HP_11_PAIRS_OF_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_11_PAIRS_OF_RIBS ALDH1A2 ATP6V1B2 ATR B3GALT6 B3GAT3 B4GAT1 BMP2 CASZ1 CENPJ CEP152 CHST3 CPLANE1 DNMT3A DONSON FLNB GABRD GPX4 HDAC6 HNRNPR HSPG2 KCNAB2 KYNU LBR LUZP1 MMP23B NALCN NFASC NUP88 PDPN PRDM16 PRIM1 PRKCZ RERE RNU4ATAC RPS19 RRAS2 SCUBE3 SKI SNRPB SOX2 SOX9 SPEN SRCAP TBC1D24 TBCK TOR1A UBE4B HP_2_3_FINGER_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_FINGER_SYNDACTYLY CDH3 DSP FANCF FGFR2 GPC3 GPC4 JUP LRP4 PITX1 SMO SOST WDPCP HP_2_3_TOE_CUTANEOUS_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_CUTANEOUS_SYNDACTYLY ATP9A BCOR CACNA1C CAMTA1 DEAF1 DHCR7 FGF16 GABRA3 IQCE MCTP2 MECP2 NECTIN4 PRKD1 RPL10 SCARF2 SMOC1 TP63 TRRAP HP_2_3_TOE_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_SYNDACTYLY ADNP ALDH1A2 AP1G1 APC2 ARCN1 BBS7 BCOR BHLHA9 BMP2 BMPR1B CDC45 CEP55 CERT1 CLCF1 CNOT2 CNTNAP1 CSGALNACT1 CTCF DDX11 DDX6 DHCR7 EBP FBXW11 FDFT1 FGFR1 FGFR2 GDF5 GNE H4C9 HEPHL1 HOXD13 IFT172 IFT43 IL11RA JARID2 KCNJ2 KCNJ5 KCTD1 KMT2A KMT2B LMBR1 MAB21L2 MAN1B1 MAPRE2 MED25 MEF2C MEIS2 MYCN MYRF NBN NEDD4L NIPBL NOG NSD1 PDE6D PHIP PIGY POLR3A PSMD12 PUF60 RAD21 RAI1 RALA RBPJ SALL1 SATB1 SETD2 SETD5 SHANK3 SHMT2 SIK3 SLC12A2 SLC12A6 SMAD4 SOX5 STAG1 SYT1 TBCK TBX15 TP63 TRIO TRMT5 TTI2 TXNL4A UBE2A WDPCP ZMIZ1 HP_2_4_FINGER_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_4_FINGER_SYNDACTYLY CDC45 CDH3 NECTIN4 SALL1 TWIST1 HP_2_HYDROXYGLUTARATE_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_HYDROXYGLUTARATE_ACIDURIA D2HGDH IDH1 IDH2 L2HGDH SLC25A1 HP_3_4_FINGER_CUTANEOUS_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_CUTANEOUS_SYNDACTYLY CACNA1C GJA1 GLI3 H4C9 KAT6A KCTD1 TP63 HP_3_4_FINGER_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_SYNDACTYLY BHLHA9 CDH3 CPLANE1 DSP EFNB1 GLI3 HOXD13 JUP MAB21L2 PORCN SALL1 TMEM53 HP_3_4_TOE_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_TOE_SYNDACTYLY CCNQ CDH3 GJA1 HOXD13 RHOA SALL1 SMO HP_3_METHYLGLUTACONIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTACONIC_ACIDURIA AGK ATAD3A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 AUH CLPB DNAJC19 FDX2 HTRA2 LETM1 MICOS13 MT-ATP6 MT-ATP8 MT-TL1 NGLY1 OPA3 POLG SDHA SERAC1 SUCLG1 TAFAZZIN TIMM50 TMEM70 HP_3_METHYLGLUTARIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTARIC_ACIDURIA DNAJC19 HMGCL HTRA2 OPA3 TIMM50 HP_4_5_FINGER_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_4_5_FINGER_SYNDACTYLY DSP GJA1 JUP NEDD4L RTTN HP_4_5_TOE_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_4_5_TOE_SYNDACTYLY CCNQ HOXD13 MAP3K20 MYCN NECTIN4 NSDHL NSUN2 RBBP8 SALL1 TBX15 TELO2 TMEM231 HP_ABDOMINAL_AORTIC_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_AORTIC_ANEURYSM ACTA2 ELN FBN1 FOXE3 HEY2 HLA-B HLA-DRB1 LOX MAT2A MFAP5 MYH11 MYLK NSMCE2 P4HA2 PRKG1 PTPN22 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 HP_ABDOMINAL_COLIC https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_COLIC ABCB4 ALAD APRT DGAT1 SI HP_ABDOMINAL_CRAMPS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_CRAMPS ASXL1 CBL POLG RUNX1 SRSF2 TET2 TYMP HP_ABDOMINAL_DISTENTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_DISTENTION ACTG2 AGR2 ALAD ALDOB ALG8 ANK1 ANO1 ARSA ATP1A2 ATP1A3 ATP7B BMPER BRCA1 C2orf69 CACNA1A CLMP COL11A1 COL11A2 COL2A1 COX11 CYP27B1 CYP2R1 DDRGK1 DHCR7 DICER1 DLK1 DLL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 EPB42 EPCAM EPHB4 EWSR1 FBN1 FGFR3 FLI1 FLNA FLNB FOCAD FOXE1 FREM2 FSHR G6PC1 GBA1 GNE GNPTAB GUSB HLA-DQA1 HLA-DQB1 HMBS IDUA IFT122 IFT52 IFT80 IL12A IL12RB1 INPPL1 INSR IPO8 IRAK1 IRF5 ITGA6 ITGB4 KAT6A KIAA0753 KRT18 LBR LIG3 LIPA LMOD1 LRP5 LYSET MEG3 MESP2 MMEL1 MNX1 MPV17 MTOR MYH11 MYL9 MYLK MYO5B NKX2-1 NKX2-5 NKX3-2 NPHS1 PAX8 PERCC1 PI4KA PLEC POLG POLG2 POU2AF1 PRKCSH PSAP PSAT1 PSMB8 PTH1R PYGL RET RRM2B RTL1 SAR1B SAT1 SEC63 SI SLC1A3 SLC26A2 SLC26A3 SLC26A4 SLC2A2 SLC35D1 SLC37A4 SLC4A1 SLC5A1 SLC9A3 SMARCAL1 SMPD1 SPIB SPINT2 SPP1 SPTA1 SPTB STAT4 STX3 TCTN2 TFAM TNFSF15 TNPO3 TREH TRIP11 TRMU TSHR TTC26 TTC7A TXNDC15 TYMP VDR WDR35 WT1 ZEB2 HP_ABDOMINAL_OBESITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_OBESITY AIP ARL6 ARMC5 ATRX BBS1 BLM BRAF CCDC28B CDH23 CUL4B DYRK1B GNAS HERC2 LIPE MAGEL2 MKRN3 NKAP NPAP1 NR3C1 PDE11A PRKAR1A PWAR1 PWRN1 RNPC3 SIM1 SNORD115-1 SNORD116-1 TP53 USP48 USP8 ZPR1 HP_ABDOMINAL_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_PAIN ABCA1 ABCB11 ABCB4 ABCC2 ABCD1 ABCG8 ACTG2 ACTN4 ADA2 ALAD ALDH4A1 ALDOB ANK1 ANKFY1 ANLN APC APOL1 APRT ARHGAP24 ARHGDIA ASXL1 ATP7A ATP8B1 ATRX BAZ1B BCL10 BCL11A BCL7B BCOR BIRC3 BMP2 BMP6 BMPR1A BRCA1 BRCA2 BUD23 C4A CALR CARD8 CASK CASR CBL CCND1 CCR1 CD2AP CD46 CD55 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEBPE CEL CFH CFI CFTR CLCNKB CLDN16 CLIP2 CLPB COL4A3 COL4A5 COL4A6 COQ8B CORIN CPA1 CPOX CPT2 CRB2 CTLA4 CTNNB1 CTRC DAAM2 DAXX DDIT3 DGAT1 DIS3L2 DLST DMPK DNAJC30 DNASE1L3 DNMT3A ECE1 EDN3 EDNRB EIF4H ELANE ELF4 ELN EMP2 EPAS1 EPB41 EPB42 EPCAM EPOR ERAP1 ERBB2 ERBB3 ESR1 EWSR1 F12 F5 FAN1 FAS FGF13 FH FIP1L1 FKBP6 FLI1 FLT1 FOXP1 FSHR FUS G6PD GAPVD1 GBA1 GCGR GDNF GFI1 GHSR GLA GNA11 GNE GOSR2 GPC3 GPR35 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C GYPC H19 HBB HBG1 HBG2 HELLPAR HEXB HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HPS1 HS3ST6 IFNGR1 IKZF1 IL10 IL12A IL12A-AS1 IL23R IL6 INF2 IRAK1 IRF2BP2 IRF4 JAK2 KCNN4 KIF1B KIT KLF1 KLRC4 KRAS LACC1 LIG3 LIMK1 LPL LRP5 MAGI2 MALT1 MAX MC2R MCM6 MDH2 MED12 MEFV MEN1 MET METTL27 MIF MITF MLH1 MLH3 MLXIPL MLYCD MMUT MPL MRAP MSH2 MSH6 MST1 MVK MYC MYO1E NABP1 NCF1 NCF4 NF1 NKX2-5 NLRP12 NLRP3 NNT NOD2 NPHS1 NPHS2 NPM1 NR1H4 NRTN NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OPLAH OTC OTULIN P4HA2 PALB2 PALLD PAX2 PIEZO1 PIGA PIGT PIGY PIK3CA PIK3CG PKHD1 PLCE1 PML PMS1 PMS2 PNPT1 POLG POMT1 PORCN POU6F2 PPOX PRKAR1A PRKCSH PRSS1 PRSS2 PRTN3 PTEN PTPN22 PTPN3 PTPRO RABL3 RAD21 RARA RBCK1 REST RET RFC2 RIPK1 RNF168 RPS20 RRM2B RUNX1 SAA1 SAT1 SCARB2 SCN1B SCN5A SDHA SDHAF2 SDHB SDHC SDHD SEC63 SEMA3C SEMA3D SEMA4A SEMA4D SERPING1 SI SLC12A3 SLC25A11 SLC25A26 SLC4A1 SMAD4 SMO SOX10 SPINK1 SPP1 SPTA1 SPTB SPTBN1 SREBF1 SRP19 SRP54 SRSF2 STAR STAT3 STAT4 STAT5B STK11 STOX1 STX1A SYK TBC1D8B TBL1XR1 TBL2 TCF4 TCIRG1 TERT TET2 TGFBR2 TLR4 TMEM127 TMEM270 TNFRSF1A TP53 TREH TRIM28 TRIP13 TRPC6 TRPM4 TSC1 TSC2 TXNRD2 TYMP UBAC2 UNC45A UQCRH VHL VPS37D WT1 ZBTB16 ZNRF3 HP_ABDOMINAL_SITUS_AMBIGUUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_SITUS_AMBIGUUS CIROP DNAAF5 GDF1 NODAL ODAD4 HP_ABDOMINAL_SITUS_INVERSUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_SITUS_INVERSUS ACTG2 CCDC32 CFAP52 CFAP53 CFC1 CPLX1 CTBP1 FOXJ1 LETM1 NELFA NODAL NSD2 PIGG PKD1L1 ZIC3 HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS ANXA11 CAPN3 CYP27B1 FRG1 GYG1 HNRNPA1 MAP2K2 NF1 PIGQ PTEN SKI SMCHD1 VDR HP_ABDUCENS_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDUCENS_PALSY AIP CCDC174 CDH23 MEN1 MYMK NAXE PSAP TBC1D2B TMEM67 TRPV4 WDR26 HP_ABLEPHARON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABLEPHARON PHGDH POLR1A PSAT1 RIPK4 TWIST2 HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD ADGRG6 ATP6V1B2 BCL10 C11orf80 C1QC CACNA1C CCDC22 CD46 CDKN1C CDKN2A CFH CFI CHEK2 CLPB CORIN DDX6 DLK1 DPF2 DPYSL5 F13A1 F13B F7 FANCB FANCF FAT4 FCGR3B FERMT1 FGFR3 FLT1 FOXF1 G6PC3 GATA6 GJA1 GJB2 GLB1 GLE1 GNB2 HELLPAR HMGA2 HNRNPK HOXD13 HSPG2 HYMAI IGF1 IGF2 IL6ST ITGB2 KANK2 KCNQ1 KCNQ1OT1 KHDC3L KIT KRT1 LBR LMNA LORICRIN MCTP2 MDM2 MEG3 MEI1 MKS1 MTHFS MUSK MYD88 MYH7 NLRP7 NRAS PACS1 PAK2 PGAP2 PGAP3 PHGDH PIGL PIGO PIGV PIGW PIGY PLAG1 PLAGL1 POMP POR QRICH1 RAC2 RBCK1 RTL1 SCARF2 SERPINE1 SKIC3 SLC30A9 SMARCAD1 SMARCD2 SPECC1L SPTBN1 STAG1 STK11 STOX1 TAPT1 TBC1D24 THSD1 TLK2 TP53 TP63 TRAF7 TRPV3 TWIST2 VPS35L WASHC5 WNT3 WT1 ZMPSTE24 ZNF699 HP_ABNORMALITY_IRIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_IRIS_MORPHOLOGY AAAS ABCB6 ACTA2 ACTB ACTG1 ADAMTS17 ADAMTSL1 ADAMTSL4 ADGRV1 ADNP AHI1 AKT1 ALG2 ALG3 ALX3 ANK1 AP3B1 AP3D1 ARL13B ARL3 ARL6IP6 ARMC9 ARSG ASPH ATOH7 ATP10A ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAP1 BAZ1B BCL7B BCOR BDNF BEST1 BLOC1S3 BLOC1S5 BLOC1S6 BMP4 BRCA1 BRCA2 BRIP1 BTRC BUD23 C12orf57 C1QTNF5 CASZ1 CBY1 CC2D2A CCDC22 CDH23 CDON CENPF CEP104 CEP120 CEP290 CEP41 CEP78 CHD7 CHN1 CHRDL1 CIB2 CLIP2 CLRN1 COL18A1 COL25A1 COL3A1 COL4A1 COL8A2 COQ2 COX7B CPAMD8 CPLANE1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CYP1B1 CYSLTR2 DACT1 DAG1 DCT DDX6 DHCR7 DIS3L2 DISP1 DLL1 DLST DLX5 DLX6 DNAJC30 DPYSL5 DTNBP1 DYRK1A EDC3 EDN3 EDNRB EFEMP1 EIF4H ELN ELP1 ELP4 EPG5 EPS15L1 ERCC4 ERCC6 ERF ESPN FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW4 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FH FKBP6 FKRP FKTN FLI1 FLNA FOXC1 FOXE3 FOXH1 FZD4 GABRD GAS1 GATA1 GDF3 GFAP GJA1 GJA8 GLI2 GMPPA GMPPB GNA11 GNAQ GPC3 GPR143 GRHL2 GTF2I GTF2IRD1 GTF2IRD2 GZF1 H19 HARS1 HCCS HERC2 HEY2 HHAT HMGB3 HMX1 HPS1 HPS4 HPS5 HPS6 HRAS HS2ST1 HSPG2 HYLS1 IFT74 IGBP1 IGF1R IMPG1 IMPG2 INPP5E ITPR1 KANSL1 KATNIP KCNAB2 KCTD1 KIAA0586 KIAA0753 KIF1B KIF21A KIFBP KIT KITLG KMT2D KRAS KRT25 KRT71 KRT74 LAMB2 LARGE1 LDHD LETM1 LIMK1 LIPH LMX1B LOX LOXL1 LPAR6 LRMDA LRP2 LRP5 LTBP2 LUZP1 LYST MAB21L2 MAD2L2 MAF MAFB MAGEL2 MAPK1 MAT2A MAX MBTPS2 MC1R MDH2 MED12L METTL27 MFAP5 MIR184 MIR204 MITF MKRN3 MKS1 MLPH MLXIPL MMP14 MMP2 MMP23B MPDZ MPZ MSH6 MT-TS2 MTSS2 MYH11 MYLK MYO5A MYO7A MYOC NAA10 NCF1 NDN NDP NDUFB11 NELFA NF1 NF2 NOD2 NODAL NOTCH2 NOTCH3 NPAP1 NPHP1 NRAS NSD2 OCA2 OCRL OFD1 OVOL2 PAH PALB2 PAX3 PAX6 PCDH15 PCYT1A PDE4D PDE6D PDPN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2A PHOX2B PIBF1 PIGG PIK3R1 PITX2 PMP22 PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU6F2 PRDM16 PRKAR1A PRKCZ PRKG1 PRPH2 PRR12 PTCH1 PTCH2 PTEN PUF60 PWAR1 PWRN1 PXDN RAB27A RAD51 RAD51C RB1 RBP4 RERE REST RET RFC2 RFWD3 RHOA RLIM ROBO1 ROR1 RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SEMA3E SF3B1 SH3TC2 SHH SIN3A SIX3 SIX6 SKI SLC24A5 SLC25A11 SLC45A2 SLX4 SMAD2 SMAD3 SMAD4 SMCHD1 SMO SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 SOX2 SPEN SPRED1 SPTBN1 SRD5A3 STIM1 STX1A SUFU TBL2 TBR1 TBX2 TBX22 TCEAL1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENM3 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THSD4 TINF2 TMEM107 TMEM127 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TOGARAM1 TONSL TP63 TRAPPC11 TRIM28 TRIM37 TRIM44 TRIP13 TRPM3 TUBA1A TUBB2B TUBB3 TXNDC15 TYR TYRP1 UBE2T UBE3A UBE4B USH1C USH1G USH2A VHL VPS13B VPS35L VPS37D VSX1 VSX2 WASHC5 WDR45 WDR73 WHRN WNT10B WNT3 WT1 XRCC2 XYLT2 YAP1 ZEB1 ZEB2 ZIC2 ZNF423 HP_ABNORMALITY_OF_ABDOMINAL_SITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ABDOMINAL_SITUS ACTG2 CCDC32 CFAP52 CFAP53 CFC1 CIROP CPLX1 CTBP1 DNAAF5 FOXJ1 GDF1 LETM1 NELFA NODAL NSD2 ODAD4 PIGG PKD1L1 ZIC3 HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS AARS2 ABCC8 ABCD4 ACAD9 ACADM ACADS ACADVL ACAT1 ACAT2 ACSF3 ADAMTS13 AGK AGXT AIFM1 AIP ALDH6A1 ALDH7A1 ALDOB AMPD1 AMPD2 AMPD3 APPL1 APRT ASL ASS1 ATAD3A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A4 ATP6V1B1 ATPAF1 ATPAF2 AUH BCKDHA BCKDHB BCS1L BLK BOLA3 BSND BTD C1QBP CA2 CA5A CACNA1D CACNA1S CAD CAMKMT CARS2 CD320 CDK5 CEL CHCHD10 CIDEC CLCN2 CLCNKA CLCNKB CLDN16 CLMP CLPB COA6 COA8 COQ2 COQ4 COQ8A COQ9 COX10 COX11 COX14 COX15 COX16 COX20 COX4I1 COX5A COX6A2 COX6B1 COX8A CPS1 CPT1A CPT2 CRAT CTNS CUL3 CYC1 CYP11A1 CYP17A1 CYP27A1 DARS2 DBT DEF6 DGUOK DLAT DLD DNAJC19 DNM1L DPYS DTYMK EARS2 ECHS1 EHHADH EIF2AK3 ELAC2 EPG5 ERCC6 ETFA ETFB ETFDH ETHE1 FAH FARS2 FASTKD2 FBP1 FBXL4 FDX2 FH FOCAD FOXRED1 G6PC1 GALT GATA3 GATB GATC GATM GCDH GCK GFER GFM1 GFM2 GK GLRX5 GLYCTK GOT2 GSS GTPBP3 GYS2 HADH HADHA HADHB HCFC1 HIBCH HLA-B HLCS HMGCL HNF1A HNF1B HNF4A HPD HPDL HS6ST2 HSD11B2 HSD17B10 HSPD1 HTRA2 HYMAI IBA57 IDH2 IKZF1 IL6 INS INSR INVS ISCA1 ISCU ITGA3 ITPR3 IVD JAG1 KARS1 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ5 KLF11 KLHL3 KYNU L2HGDH LARS1 LARS2 LCT LDHA LETM1 LIAS LIG3 LIPT1 LIPT2 LMBRD1 LONP1 LRPPRC LYRM4 LYRM7 MARS1 MCCC1 MCCC2 MCEE MDH2 MECP2 MICOS13 MIPEP MLYCD MMAA MMAB MMACHC MMADHC MMUT MPC1 MPV17 MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRPS34 MRPS7 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTO1 MTR MTRFR MTRR MYO5B NADK2 NARS2 NAXD NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD1 NEUROG3 NFS1 NFU1 NGLY1 NOTCH2 NR3C1 NR3C2 NSUN3 NUBPL OCRL OGDH OTC OXCT1 PAH PAX2 PAX4 PBX1 PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PDX1 PET100 PET117 PHKA2 PHKB PHKG2 PIGA PITRM1 PLAGL1 PLPBP PLVAP PMPCA PMPCB PNPLA8 PNPO PNPT1 POLG POLG2 POLRMT PPA2 PPCS PPM1B PRDX1 PREPL PRORP PRSS12 PTPN22 PUS1 PYGL QRSL1 RARS1 RARS2 RBCK1 RMND1 RNASEH1 RRAGD RRM2B RYR1 SARS2 SCNN1A SCNN1B SCNN1G SCO1 SCO2 SDHA SDHB SDHD SERAC1 SFXN4 SHOX SLC12A1 SLC12A3 SLC16A1 SLC25A10 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A26 SLC25A3 SLC25A4 SLC25A42 SLC26A3 SLC2A2 SLC31A1 SLC34A1 SLC37A4 SLC3A1 SLC4A1 SLC4A4 SLC52A1 SLC5A1 SLC7A7 SOD1 SQOR STAT2 STX3 SUCLA2 SUCLG1 SUGCT SUOX SURF1 SYNJ1 TAFAZZIN TANGO2 TAOK1 TARS2 TIMM22 TIMM50 TIMMDC1 TK2 TKFC TMEM126B TMEM70 TPK1 TRMT10C TRMT5 TRMU TRNT1 TSFM TTC26 TUFM TWNK TXN2 TYMP UPB1 UQCC2 UQCC3 UQCRB UQCRC2 UQCRFS1 UQCRH UQCRQ USP18 USP8 VARS2 VIPAS39 VPS33B WARS2 WNK1 WNK4 YARS1 YARS2 YME1L1 ZFP57 HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY AAAS ABCD1 AIP AIRE AKT1 ARMC5 ATRX BAP1 BCOR BRAF BSND CACNA1D CACNA1H CBX2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CLCN2 CLCNKA CLCNKB CTNNB1 CUL3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 DHX37 DMRT3 GATA4 GATB GATC GK GLI3 GMPPA GNAS HBB HERC2 HSD11B2 HSD17B4 HSD3B2 HTR1A IARS2 INSR KANSL1 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ2 KCNJ5 KLHL3 LHX4 LIPA MAGEL2 MAP3K1 MC2R MCM4 MEN1 MKRN3 MRAP MRPS25 MRPS7 NDN NDUFAF5 NF2 NFKB2 NFS1 NNT NPAP1 NR0B1 NR3C1 NR3C2 NR5A1 OCA2 OCRL PCSK1 PDE11A PDE8B PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA POMC POR PRKACA PRKAR1A PROP1 PWAR1 PWRN1 QRSL1 RBM28 RET ROBO1 SAA1 SAMD9 SCNN1A SCNN1B SCNN1G SERPINA6 SGPL1 SLC12A1 SLC12A3 SLC26A3 SMARCB1 SMARCE1 SMO SNORD115-1 SNORD116-1 SNRPN SOX9 SRY STAR STEAP3 SUFU TBCK TBX19 TCTN3 TERT TP53 TRAF7 TRAPPC11 TXNRD2 USP48 USP8 VAMP7 WNK1 WNK4 WT1 WWOX ZFPM2 ZNRF3 HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL ABCB11 ABCB4 ABCC6 ABL1 ACVR1 AKR1D1 ALPL ASXL1 ATP8B1 BCR BCS1L BGN C18orf32 CBL CCDC115 CCDC47 CEBPE CHEK2 CLCN7 COG4 COG6 CSF3R CTNS CYP27B1 CYP2R1 CYP3A4 CYP7B1 DCDC2 DMP1 ELMO2 ENPP1 ESR1 FAM20C FGF23 FKBP10 GATM GPAA1 GPR35 HNF1B HNF4A HNRNPA1 HNRNPA2B1 IARS1 IL12A IL12RB1 IRF5 KIF12 LBR LIPA LRRK1 MMEL1 MST1 NPR2 NPR3 NR1H4 PEX2 PGAP2 PGAP3 PHEX PIGA PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PKD2 PKHD1 PLEKHM1 POU2AF1 PRIM1 PRKCSH PTH1R RB1 RUNX1 SC5D SEMA4D SGMS2 SH3BP2 SIK3 SLC25A13 SLC2A2 SLC34A1 SLC34A3 SLC37A4 SLC39A4 SLC4A2 SLC51A SOST SPIB SQSTM1 SRSF2 TCF4 TCIRG1 TET2 TFAM TMEM199 TMEM67 TNFRSF11A TNFRSF11B TNFSF15 TNPO3 TP53 TREX1 TRPV6 TTC26 USP53 VCP VDR ZNF687 HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM AGA CBS ERCC2 ERCC3 ERCC4 ERCC5 SLC30A10 TAT HP_ABNORMALITY_OF_BINOCULAR_VISION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BINOCULAR_VISION ADPRS AGRN AIP AK9 ANO10 ATP1A2 ATXN3 CACNA1A CACNA1G CDH23 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DARS2 DKK1 DNAJC13 DNAJC6 DOK7 EIF4G1 ERCC2 ERCC3 ERCC4 ERCC5 FGF14 GBA1 GIGYF2 GRK1 HLA-B HLA-DQB1 HLA-DRB1 HTRA2 KCNA1 KCND3 LRP4 LRRK2 MAPT MEN1 MGME1 MT-TL1 MT-TL2 MT-TN MT-TS1 MUSK MYO5A MYO9A NAB2 NF2 NFKB2 NOP56 NPTX1 P4HA2 PARK7 PDCD1 PINK1 PODXL POLG PRKN PRNP PRRT2 PTPN22 PUM1 RAPSN RILPL1 SAG SAMD9L SCN1A SCN4A SDHA SERPINI1 SLC18A3 SLC1A3 SLC25A1 SLC2A1 SLC5A7 SNAP25 SNCA SPTBN2 STAT6 SYNJ1 SYT2 TGFB1 TMEM240 TOP3A TPP1 TTC19 TTR TYMP UCHL1 VAMP1 VPS13C VPS35 HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY ACTG2 ALDH18A1 ALG9 AQP2 ATP7A AVPR2 BAZ1B BCL7B BUD23 CC2D2A CCNQ CDH11 CLIP2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DNAJC30 EFEMP2 EIF4H ELN FBLN5 FKBP14 FKBP6 FOXF1 FREM2 G6PC3 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 ISL1 ITGA6 ITGB4 KRAS LAMA3 LAMB3 LAMC2 LIMK1 LMOD1 LRIG2 LTBP1 LTBP4 MBTPS2 MED12 METTL27 MKKS MKS1 MLXIPL MYH11 MYL9 MYLK MYOCD MYRF NCF1 NDUFB8 NKX2-1 PAH PIGN PLEC PLOD1 POR RAC2 RFC2 ROBO1 SALL4 SLC35A2 SMAD3 STK11 STX1A TBL2 TMEM270 TP63 UPB1 VPS37D WNT4 HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_AND_BLOOD_FORMING_TISSUES AAGAB AARS1 AASS ABCA1 ABCB6 ABCB7 ABCC2 ABCC6 ABCC8 ABCC9 ABCD3 ABCD4 ABCG8 ABHD5 ABL1 ACAD8 ACAD9 ACAT1 ACD ACP5 ACSL4 ACTA1 ACTA2 ACTC1 ACTN1 ACTN2 ACTN4 ACVR1 ACVRL1 ADA ADA2 ADAM17 ADAMTS13 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADH5 ADK AEBP1 AGA AGGF1 AGK AGR2 AGXT AHCY AICDA AIP AK1 AK2 AKR1D1 AKT1 ALAD ALAS2 ALB ALDOA ALDOB ALG1 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALPK1 ALPL ALX4 AMACR AMMECR1 AMN ANAPC1 ANGPTL6 ANK1 ANKRD1 ANKRD11 ANKRD26 ANKRD55 ANO6 AP1S3 AP3B1 AP3D1 APC APC2 APOB APOE APP APPL1 ARF1 ARFGEF2 ARHGAP26 ARHGAP31 ARHGEF1 ARL6IP6 ARMC5 ARPC1B ARVCF ASAH1 ASXL1 ATM ATOH7 ATP11A ATP11C ATP5F1A ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8B1 ATPAF2 ATR ATRX B2M B3GALT6 B4GALT1 BACH2 BAG3 BAG5 BANK1 BAP1 BAX BCL10 BCL11A BCL11B BCL2 BCL6 BCOR BCR BEST1 BGN BICD2 BIRC3 BLK BLM BLNK BLOC1S3 BLOC1S5 BLOC1S6 BMPR1A BMPR2 BMS1 BPGM BRAF BRCA1 BRCA2 BRCC3 BRD4 BRIP1 BSCL2 BTK BTNL2 BUB1 BUB1B BUB3 C1GALT1C1 C1QB C1R C1S C2 C2orf69 C3 C4A C4B CA2 CACNA1D CACNA1S CAD CALR CAMK2B CAP2 CAPN3 CAPN5 CARD10 CARD11 CARD9 CARMIL2 CARS1 CASK CASP10 CASP8 CASR CAT CAVIN1 CBL CBLIF CBS CCBE1 CCM2 CCND1 CCR1 CD109 CD19 CD247 CD27 CD28 CD36 CD3D CD3E CD3G CD4 CD40 CD40LG CD46 CD55 CD59 CD70 CD79A CD79B CD81 CD8A CDAN1 CDC40 CDC42 CDC42BPB CDCA7 CDH23 CDIN1 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDSN CEBPA CEBPE CEL CELA2A CEP57 CFB CFH CFHR1 CFHR3 CFI CFTR CHD7 CHEK2 CHIC2 CHST14 CIITA CISD2 CITED2 CLCN2 CLCN7 CLCNKB CLN3 CLN5 CLPB CLPX CNBP COA8 COG1 COG2 COG4 COG6 COG8 COL14A1 COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A2 COL4A5 COL5A1 COL5A2 COL7A1 COMT COPA COQ2 CORIN CORO1A COX10 COX16 COX4I2 CP CPA1 CPOX CPT2 CR2 CREB3L1 CREBBP CRIPT CRYAB CSF3R CSNK2A1 CSRP3 CST3 CTC1 CTCF CTLA4 CTNNB1 CTNNBL1 CTPS1 CTRC CUBN CXCR2 CXCR4 CYB561 CYB5A CYB5R3 CYBA CYBB CYBC1 CYCS CYP11B1 CYP11B2 CYP26C1 CYP2A6 CYP2C9 CYP4F22 CYP7B1 CYSLTR2 DAXX DBH DCDC2 DCLRE1B DCLRE1C DDOST DDX41 DEF6 DES DGCR2 DGCR6 DGCR8 DGKE DGUOK DHFR DHPS DIAPH1 DKC1 DLD DLL4 DLST DMD DMXL2 DNAJC19 DNAJC21 DNAJC3 DNASE1 DNASE1L3 DNASE2 DNM1L DNM2 DNMT3A DNMT3B DOCK2 DOCK6 DOCK8 DOLK DPAGT1 DPM1 DPM2 DPP9 DSE DSG1 DSG2 DSP DST DTNBP1 DUT DYNC2LI1 DZIP1L EDNRB EFEMP1 EFL1 EGFR EGLN1 EIF2AK3 EIF2AK4 ELANE ELF4 ELMO2 ELN EMILIN1 ENG ENPP1 EOGT EP300 EPAS1 EPB41 EPB42 EPCAM EPG5 EPHB2 EPHB4 EPO EPOR EPX ERAP1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC6 ERCC6L2 ERCC8 ERMARD ESCO2 ESS2 ETHE1 ETS1 ETV6 EVC EVC2 EWSR1 EXT2 EXTL3 F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FADD FAH FAM111A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSA FARSB FAS FASLG FAT4 FBN1 FBXL4 FBXW7 FCGR2A FCGR2B FCGR2C FCGR3A FCGR3B FCHO1 FDX2 FECH FERMT1 FERMT3 FGA FGB FGF23 FGFR2 FGG FH FHL2 FIBP FIG4 FIP1L1 FKBP10 FKBP14 FKTN FLI1 FLNA FLNC FLT1 FLT3 FMO3 FN1 FNIP1 FOCAD FOXE3 FOXN1 FOXP1 FOXP2 FOXP3 FTCD FTH1 FUCA1 FUT8 FYB1 FZD4 G6PC1 G6PC3 G6PD GAA GALC GALNT2 GALT GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD1 GATB GATC GBA1 GCDH GCK GCLC GDF2 GFI1 GFI1B GGCX GIMAP5 GINS1 GJA5 GLA GLB1 GLI1 GLRX5 GNA11 GNA14 GNAQ GNAS GNB1 GNB2 GNE GP1BA GP1BB GP6 GP9 GPC3 GPC4 GPI GPR35 GPX1 GREM1 GSN GSR GSS GTF2E2 GTF2H5 GUCY1A1 GYPC H4C9 HABP2 HADH HADHB HAMP HAND2 HAVCR2 HAX1 HBA1 HBA2 HBB HBD HBG1 HBG2 HCK HEATR3 HELLPAR HELLS HEY2 HIRA HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMCN1 HMGCL HMOX1 HNF1A HNF4A HOXA11 HPGD HPRT1 HPS1 HPS3 HPS4 HPS5 HPS6 HRG HSCB HSD17B10 HSD3B7 HSPA9 HTRA2 HYOU1 ICOS IDH1 IDH2 IFIH1 IFNG IFNGR1 IFT140 IGHG1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IKZF3 IKZF5 IL10 IL10RA IL12A IL12A-AS1 IL12B IL12RB1 IL17RA IL18BP IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL37 IL4R IL6R IL6ST IL7 IL7R INS IPO8 IRAK1 IRAK4 IREB2 IRF2BP2 IRF4 IRF5 IRF8 IRX5 ISCU ITCH ITGA2 ITGA2B ITGAM ITGB2 ITGB3 ITGB4 ITK IVD IVNS1ABP JAGN1 JAK1 JAK2 JAK3 JAM2 JAZF1 JMJD1C JPH2 KANSL1 KARS1 KCNA5 KCNE1 KCNE2 KCNE5 KCNJ1 KCNJ11 KCNJ2 KCNJ3 KCNJ5 KCNK3 KCNN4 KCNQ1 KDM6A KHK KIAA0319L KIF11 KIF15 KIF1B KIF20A KIF23 KIT KLF1 KLF11 KLHDC8B KLKB1 KLRC4 KMT2D KNG1 KNSTRN KRAS KRIT1 KRT1 KRT14 KRT5 KRT74 KRT9 LACC1 LAMA3 LAMA4 LAMB2 LAMB3 LAMC2 LAMTOR2 LARS1 LARS2 LAT LBR LCAT LCK LCP2 LDB3 LEP LEPR LIG1 LIG3 LIG4 LIPA LMAN1 LMBRD1 LMNA LMNB2 LMOD2 LMX1B LOX LPIN1 LPIN2 LPP LRBA LRP5 LRPPRC LRRC8A LSM11 LYRM7 LYST LZTR1 MAD2L2 MADD MAGT1 MALT1 MAN2B1 MAP1B MAP2K1 MAP2K2 MAPK1 MARS1 MARS2 MAT2A MAX MBD4 MCFD2 MCM10 MCM4 MDH2 MDM2 MDM4 MECOM MECP2 MED12 MEFV MEN1 MET MFAP5 MGAT2 MICOS13 MICU1 MLH1 MLH3 MLLT10 MLX MMAA MMAB MMACHC MMADHC MMEL1 MMP1 MMUT MOGS MPDU1 MPI MPIG6B MPL MPLKIP MPO MRAS MRPS7 MRTFA MS4A1 MS4A2 MSH2 MSH6 MSN MST1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTAP MTHFD1 MTHFR MTOR MTR MTRR MTTP MTX2 MUC1 MUC5B MVK MYBPC3 MYC MYD88 MYH11 MYH6 MYH7 MYH9 MYL4 MYLK MYORG MYPN MYRF MYSM1 NAA10 NABP1 NAE1 NAF1 NAGA NAGS NARS2 NAXD NBAS NBEAL2 NBN NCAPG2 NCF1 NCF2 NCF4 NCKAP1L NDE1 NDP NDUFA6 NDUFB7 NEDD4L NEU1 NEUROD1 NEXN NF1 NF2 NFATC2 NFE2L2 NFIA NFIX NFKB1 NFKB2 NFKBIA NFS1 NGLY1 NHEJ1 NHLRC2 NHP2 NIPBL NKX2-5 NKX2-6 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NOS3 NOTCH1 NOTCH3 NPC1 NPC2 NPHP1 NPHP4 NPM1 NPPA NR1H4 NR3C1 NRAS NSD1 NSMCE2 NSMCE3 NSUN2 NT5C3A NTHL1 NTRK1 NUMA1 NUP155 NUP214 NUTM1 OAS1 OBSCN OCLN OCRL OPA1 ORAI1 OSTM1 OTC OTUD5 OTULIN P2RY12 P4HA2 PACS2 PALB2 PANK2 PARN PAX2 PAX4 PBX1 PCCA PCCB PCNT PDCD1 PDCD10 PDE11A PDGFB PDGFRA PDGFRB PDX1 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGK1 PGM1 PGM3 PHF21A PHGDH PHKA2 PHKB PHKG2 PI4KA PICALM PIEZO1 PIGA PIGL PIGM PIGT PIK3CA PIK3CD PIK3CG PIK3R1 PITX2 PKHD1 PKLR PLA2G4A PLA2G7 PLAU PLCG2 PLEC PLEKHM1 PLG PLN PLOD1 PLOD3 PLVAP PML PMM2 PMS1 PMS2 PNP PNPLA2 PNPO POLE POLG POLRMT POMP POT1 POU2AF1 PPCS PPIL1 PPOX PPT1 PRDM16 PRDM5 PRDX1 PRF1 PRIM1 PRKACA PRKACB PRKACG PRKAR1A PRKCD PRKCSH PRKDC PRKG1 PRLR PROC PRORP PROS1 PRPS1 PRSS1 PRSS2 PRTN3 PSAP PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PSMC1 PSMG2 PSTPIP1 PTEN PTF1A PTH1R PTPN11 PTPN2 PTPN22 PTPRC PUF60 PUS1 PXK PYCR1 QRSL1 RAB27A RAC2 RACGAP1 RAD50 RAD51 RAD51C RAD54B RAD54L RAF1 RAG1 RAG2 RANBP2 RARA RASA1 RASA2 RASGRP1 RASGRP2 RB1 RBCK1 RBM10 RBM20 RBM8A RBPJ RECQL RECQL4 REL RELB REN RET RFT1 RFWD3 RFX5 RFXANK RFXAP RHAG RHBDF2 RHCE RHD RHOH RIN2 RINT1 RIPK1 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF43 RNU4ATAC RNU7-1 RPA1 RPGRIP1L RPL11 RPL13 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RRAS RRAS2 RREB1 RRM2B RS1 RTEL1 RUNX1 RYR1 SAA1 SALL4 SAMD9 SAMD9L SAMHD1 SAR1B SARS2 SASH3 SAT1 SBDS SC5D SCARB2 SCN10A SCN11A SCN1B SCN2B SCN3B SCN4B SCN5A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEC24C SEC61A1 SEC63 SEMA4A SEMA4D SERAC1 SERPINA6 SERPINC1 SERPIND1 SERPINE1 SERPINF2 SETBP1 SETD2 SETX SF3B1 SFTPA2 SFTPC SFXN4 SGCD SGCG SGPL1 SH2B3 SH2D1A SH3GL1 SH3KBP1 SHOC2 SHPK SIK3 SIN3A SKIC2 SKIC3 SLC11A2 SLC12A3 SLC17A5 SLC19A1 SLC19A2 SLC20A2 SLC25A10 SLC25A11 SLC25A13 SLC25A15 SLC25A21 SLC25A38 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC30A10 SLC35A1 SLC35C1 SLC37A4 SLC39A13 SLC39A4 SLC39A7 SLC40A1 SLC46A1 SLC4A1 SLC4A2 SLC4A4 SLC51A SLC5A2 SLC5A6 SLC7A7 SLCO2A1 SLF2 SLFN14 SLX4 SMAD2 SMAD3 SMAD4 SMARCAL1 SMARCB1 SMARCD2 SMARCE1 SMC5 SMO SMPD1 SNORD118 SNX10 SOCS1 SON SOS1 SOS2 SP110 SPARC SPATA5 SPI1 SPIB SPINK1 SPINK5 SPP1 SPPL2A SPRED1 SPRED2 SPTA1 SPTB SRC SRD5A3 SREBF1 SRP19 SRP54 SRP72 SRSF2 SSR4 STAT1 STAT2 STAT3 STAT4 STAT5B STEAP3 STIM1 STING1 STK11 STK4 STN1 STOX1 STS STT3A STT3B STX11 STXBP1 STXBP2 SUCLA2 SUFU SURF1 SYK TAF1A TAFAZZIN TAL1 TAL2 TALDO1 TAOK1 TARS1 TBC1D24 TBCE TBK1 TBL1XR1 TBX1 TBX2 TBX21 TBXA2R TBXAS1 TCAP TCF3 TCF4 TCIRG1 TCN2 TDP2 TEK TERC TERT TET2 TF TFR2 TFRC TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBD THPO THRA THSD1 THSD4 TICAM1 TIMM8A TINF2 TKFC TLL1 TLR3 TLR4 TLR7 TLR8 TMEM127 TMEM147 TMEM165 TMEM237 TMEM67 TMPO TMPRSS6 TMTC3 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TNFSF15 TNFSF4 TNIP1 TNNC1 TNNI3 TNNT2 TNPO3 TNXB TOM1 TONSL TOR1A TP53 TP63 TPI1 TPM1 TPMT TPP2 TRAC TRAF3 TRAF7 TREM2 TREX1 TRIP13 TRMT5 TRMU TRNT1 TSC1 TSC2 TSPAN12 TSR2 TTC7A TTI2 TTN TTR TUBA8 TUBB1 TXNRD2 TYK2 TYMP TYMS TYROBP UBA1 UBA2 UBAC2 UBE2A UBE2L3 UBE2T UBR1 UFD1 UMPS UNC119 UNC13D UNC45A UNC93B1 UNG UQCRFS1 UROD UROS USB1 USP18 USP48 USP8 VCL VEZF1 VHL VKORC1 VPS13A VPS13B VPS33A VPS33B VPS45 VWF WARS2 WAS WDR1 WDR19 WFS1 WIPF1 WRAP53 WRN WT1 XIAP XK XPR1 XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YARS2 YIPF5 ZAP70 ZBTB16 ZBTB20 ZBTB24 ZBTB7A ZCCHC8 ZEB2 ZMPSTE24 ZNF341 ZNF408 ZNF469 ZNF699 ZNFX1 ZPR1 HP_ABNORMALITY_OF_BLOOD_CIRCULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_CIRCULATION ABCC6 ABCC8 ACAD9 ACTA1 ACTA2 ACTC1 ACVRL1 ADA2 AGGF1 AKT1 ALDOB ALPL AMACR ANGPTL6 APC APOE APP AQP2 ARHGAP31 ARPC1B ARVCF ASXL1 ATOH7 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATRX AVPR2 BAP1 BCOR BEST1 BICD2 BMPR1A BRCC3 C4A CACNA1D CALR CAPN5 CASP10 CBL CBS CCM2 CCR1 CD109 CD46 CDKN1A CDKN1B CDKN2B CDKN2C CFH CFHR1 CFHR3 CFI CISD2 CITED2 CLCN2 COL3A1 COL4A1 COL4A2 COMT COPA CPT2 CST3 CTC1 CTCF CTLA4 CTNNB1 CTNS CYP11A1 CYP11B1 CYP11B2 CYP26C1 CYP7B1 CYSLTR2 DAXX DHPS DLL4 DLST DNM2 DNMT3A DOCK6 DOCK8 DPAGT1 DST DZIP1L EFEMP1 EIF2AK4 ELN ENG ENPP1 EOGT EPAS1 EPCAM EPOR ERAP1 ERCC6 ERCC8 EXT2 F10 F11 F13A1 F13B F2 F5 F7 F8 F9 FAH FAN1 FAS FBN1 FCGR2C FGA FGB FGG FH FIP1L1 FLNA FN1 FOXE3 FOXF1 FSHR FZD4 GAA GATA2 GATA4 GATA6 GBA1 GCDH GCK GDF2 GFI1B GGCX GNA11 GNAQ GP1BA GP1BB GP9 GREM1 HADHB HELLPAR HEY2 HIRA HLA-B HLA-DPA1 HLA-DPB1 HMCN1 HMOX1 HPGD HPS1 HSD3B7 IFIH1 IFNG IFNGR1 IKBKG IKZF1 IL10 IL10RA IL12A IL12A-AS1 IL23R INS IPO8 IRF2BP2 IRF4 ITGA2 ITGA2B ITGB3 IVD JAK2 JMJD1C KANSL1 KCNJ11 KCNJ5 KIF1B KIF23 KIT KLRC4 KRAS KRIT1 LAMB2 LBR LMAN1 LMBRD1 LMNA LMOD2 LOX LRP5 MARS2 MAT2A MAX MCFD2 MDH2 MED12 MEFV MEN1 MFAP5 MLH1 MLH3 MMACHC MMUT MPI MPL MSH2 MSH6 MVK MYC MYD88 MYH11 MYH6 MYLK MYO5B NABP1 NDE1 NDP NF1 NF2 NFIA NKX2-5 NLRC4 NOTCH1 NOTCH3 NPM1 NUMA1 PCCA PCCB PDCD10 PDGFB PDGFRA PDX1 PET100 PIK3CA PKHD1 PLAU PLOD1 PLVAP PML PMM2 PMS1 PMS2 POT1 PRF1 PRKAR1A PRKCSH PRKG1 PROC PROS1 PRTN3 PTEN PTPN22 PUF60 RACGAP1 RANBP2 RARA RASA1 RB1 RBCK1 RBM10 RBPJ RET RHBDF2 RNF168 RPS20 RREB1 RS1 RUNX1 SAMD9 SBDS SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC63 SEMA4A SERPINE1 SERPINF2 SF3B1 SH2B3 SIN3A SLC25A11 SLC25A13 SLC35A1 SLC7A7 SLCO2A1 SMAD2 SMAD3 SMAD4 SMARCB1 SMARCE1 SMC5 SMO SNORD118 SP110 SPARC SREBF1 SRSF2 STAT2 STAT3 STAT4 STAT5B STIM1 STK11 STN1 STT3A STX3 SUFU TAOK1 TBL1XR1 TBX1 TBX20 TEK TERC TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THOC6 THSD1 THSD4 TLL1 TLR4 TMEM127 TMEM237 TNFRSF1A TNXB TRAF7 TREX1 TSC1 TSC2 TSPAN12 TTC26 TTC7A UBAC2 UFD1 USP18 VHL VWF WAS WFS1 WIPF1 XYLT1 XYLT2 ZBTB16 ZEB2 ZMPSTE24 ZNF408 ZNFX1 HP_ABNORMALITY_OF_BODY_MASS_INDEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BODY_MASS_INDEX CEACAM3 CEACAM6 CFTR CLCA4 CORIN DCTN4 EDNRA FLT1 GCLC GSTM3 HFE HMOX1 HTT KCNJ11 KCNN4 MIF SERPINA1 SLC11A1 SLC16A2 SLC25A13 SLC26A9 SLC2A3 SLC6A14 SLC9A3 STOX1 STX1A TGFB1 THOC2 THRA HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY ACD ACP5 ADA2 ADH5 ALPK1 AMN ANAPC1 ANKRD26 ASXL1 ATM ATR BACH2 BCOR BRCA2 BRIP1 CA2 CALR CARD11 CASP10 CBL CCND1 CD27 CD28 CIITA CLCN7 CLPB COG6 COQ2 CSF3R CTC1 CTLA4 CUBN CXCR2 CXCR4 DCLRE1B DDX41 DHFR DKC1 DNAJC21 DNASE2 DPP9 DUT DYNC2LI1 EFL1 ELANE ERCC4 ERCC6L2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FARSB FAS FASLG FIP1L1 FLI1 FLNA FYB1 GATA1 GATA2 GBA1 GFI1 GFI1B GLI1 GNA14 GNAS GP1BA GP1BB GP9 HAVCR2 HLA-DRB1 HOXA11 HPGD IFIH1 IFNG IKZF1 IRF2BP2 IRF8 ITCH ITK IVD JAGN1 JAK2 KIF15 KIT KRAS LBR LIG4 LMBRD1 LPIN2 LRBA LYST MAD2L2 MAN2B1 MDM4 MMAA MMAB MMADHC MPIG6B MPL MRPS7 MTHFD1 MTRR MYC MYH9 MYSM1 NABP1 NAXD NBEAL2 NBN NHP2 NLRC4 NOP10 NPM1 NRAS NUMA1 OSTM1 PALB2 PARN PCCA PCCB PGM3 PIGA PIGM PML PRF1 PRKACA PRKACB PRKAR1A PRKCD PSTPIP1 PTPRC RAB27A RAC2 RAD51 RARA RASGRP1 RECQL4 RFWD3 RFX5 RFXANK RFXAP RNASEH2A RPA1 RPL18 RPL26 RPS14 RTEL1 RUNX1 SAMD9 SAMD9L SARS2 SBDS SCARB2 SF3B1 SH2B3 SH2D1A SHOC2 SLC35A1 SLC46A1 SLC7A7 SLCO2A1 SLX4 SMARCAL1 SMARCD2 SP110 SRC SRP19 SRP54 SRP72 SRSF2 STAT3 STAT5B STN1 STX11 STXBP2 TALDO1 TBL1XR1 TBXAS1 TCF3 TCIRG1 TCN2 TERC TERT TET2 TGFB1 TINF2 TLR8 TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TP53 TYMS UBA1 UBE2T UNC13D USB1 VPS33A WAS WDR19 WRAP53 XIAP XRCC4 ZBTB16 ZCCHC8 ZNF699 ZNFX1 HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY AARS1 ABCC6 ABCC9 ACP5 ADAMTS2 ADAMTSL2 ADCY10 AEBP1 AFF3 AGK AGXT AIFM1 AIP AKR1D1 ALB ALDH18A1 ALG3 ALPL AMER1 ANAPC1 ANKH ANO5 ANOS1 ANTXR2 AP1S2 AP2S1 ARL6IP6 ARMC5 ASAH1 ASXL1 ASXL2 ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP7A ATP7B ATP8B1 ATRX AVP B3GALT6 B3GAT3 B4GALT7 BAAT BANF1 BAZ1B BCL7B BMP1 BMP15 BMP2 BMP6 BMS1 BNC1 BRAF BRCA1 BRCA2 BRIP1 BUD23 CA2 CALCR CANT1 CARS1 CASR CAVIN1 CBFB CBL CBS CCDC134 CCDC141 CCN6 CCND1 CDC73 CDH23 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEACAM3 CEACAM6 CEP164 CEP290 CFTR CHD7 CHST3 CLCA4 CLCN5 CLCN7 CLIP2 CLPB COG1 COL1A1 COL1A2 COL2A1 COL5A1 COL5A2 COL7A1 COPB2 COX4I2 CPLX1 CREB3L1 CRIPT CRTAP CSF1R CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNND2 CTNS CTSK CYB5A CYP11A1 CYP17A1 CYP19A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 DCAF17 DCC DCHS1 DCTN4 DDOST DDRGK1 DHCR24 DHX37 DKC1 DKK1 DLK1 DLL4 DLX3 DMP1 DMRT3 DNAJC21 DNAJC30 DPAGT1 DPM2 DUSP6 DVL1 EBP EDNRA EED EFL1 EHHADH EIF2AK3 EIF4H ELANE ELN ENPP1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ESR1 ESR2 EXT2 FAH FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBLN5 FBN1 FBN2 FERMT3 FEZF1 FGF17 FGF23 FGF8 FGFR1 FGFR2 FKBP10 FKBP14 FKBP6 FLNA FLRT3 FN1 FOXA2 FSHR FUT8 FZD4 G6PC1 GALNS GALT GATA1 GATA4 GATM GBA1 GCLC GCM2 GEMIN4 GET4 GFI1 GJA1 GK GLA GLB1 GLI2 GLIS3 GNA11 GNAS GNPAT GNPTAB GNRH1 GNRHR GORAB GPAA1 GPR35 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HAMP HBB HECW2 HERC2 HESX1 HFE HGD HGSNAT HHAT HJV HLA-DQA1 HLA-DQB1 HMGA2 HMOX1 HNF4A HNRNPH1 HNRNPK HPGD HRAS HS6ST1 HSD17B4 HSD3B7 HSPG2 HTRA1 IARS2 IER3IP1 IFIH1 IFITM5 IFT122 IFT140 IFT43 IFT52 IGF1 IKBKG IL12A IL12RB1 IL17RD IL1RN IL6ST INVS IQCB1 IRF5 IRX5 ITGB4 KARS1 KCNJ1 KCNJ8 KCNN4 KDELR2 KIF1A KISS1 KISS1R KIT KL KNSTRN KRAS LAMA3 LAMA5 LAMB3 LAMC2 LARS2 LBR LEMD2 LEMD3 LETM1 LHX4 LIFR LIMK1 LMNA LMX1B LPIN2 LRP4 LRP5 LRP6 LRRK1 LTBP4 MAD2L2 MAFB MAGEL2 MALT1 MAN2B1 MAP2K1 MAP3K1 MAP3K7 MBTPS1 MBTPS2 MC4R MDM4 MED12 MEG3 MEN1 METTL27 MGAT2 MIA3 MIF MITF MKRN3 MLXIPL MMEL1 MMP1 MMP13 MMP14 MMP2 MPLKIP MRPS22 MSH4 MST1 MTAP MTRR MTTP MTX2 NAA20 NAB2 NAE1 NAF1 NAGA NAGLU NCF1 NDN NDNF NDP NDUFAF1 NDUFAF6 NELFA NF1 NFATC2 NFIX NFKBIA NGLY1 NHERF1 NHLH2 NHP2 NLRP3 NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NPR2 NR0B1 NR3C1 NR5A1 NRAS NSD2 NSMF NUP107 OCA2 OCRL OFD1 OSTM1 OTX2 P3H1 P4HB PALB2 PAPPA2 PARN PCCA PCCB PDE11A PDGFRB PDLIM4 PEPD PEX12 PHEX PHKA2 PHKB PHKG2 PIGG PIGT PIGU PIGY PIK3CD PLEC PLEKHM1 PLOD1 PLOD2 PLOD3 PMM2 POC1A POF1B POLD1 POLE POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3H POLRMT POU1F1 POU2AF1 PRDM5 PRG4 PRKACA PRKAR1A PRLR PROK2 PROKR2 PROP1 PSAP PSMC3IP PTDSS1 PTEN PTH1R PWAR1 PWRN1 PYCR1 PYGL RAB3GAP1 RAD51 RAD51C RBL2 RECQL4 RETREG1 RFC2 RFWD3 RIGI RIN2 RNF113A RNF125 RNU4ATAC RNU7-1 RPL10 RPL11 RRM2B RSPRY1 RTEL1 RTL1 RUNX1 RUNX2 SATB2 SBDS SC5D SCARB2 SCN4A SCN9A SDCCAG8 SEC23A SEC24D SEMA3A SEMA3E SEMA4D SEMA5A SERPINA1 SERPINH1 SETBP1 SFRP4 SGMS2 SGSH SH3PXD2B SIK3 SIM1 SKI SLC10A1 SLC11A1 SLC12A1 SLC17A5 SLC25A19 SLC25A4 SLC26A2 SLC26A9 SLC29A3 SLC2A2 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC37A4 SLC39A13 SLC39A14 SLC39A8 SLC4A1 SLC4A2 SLC6A14 SLC7A7 SLC9A3 SLCO2A1 SLX4 SMAD3 SMARCAL1 SMARCD2 SMPD1 SMS SNORD115-1 SNORD116-1 SNRPN SNX10 SOST SOX10 SOX3 SOX9 SP7 SPARC SPIB SPIDR SPRTN SPRY4 SQSTM1 SRC SRCAP SRP19 SRP54 SRSF2 SRY STAT1 STAT3 STAT6 STN1 STX16 STX1A STX3 SYK TAC3 TACR3 TAF1 TAPT1 TARS1 TBCE TBCK TBL2 TBXAS1 TCF12 TCF4 TCIRG1 TCOF1 TENT5A TERC TERT TET2 TGFB1 TGFBR2 TINF2 TJP2 TMEM165 TMEM270 TMEM38B TMEM53 TMEM67 TNFRSF11A TNFRSF11B TNFSF11 TNFSF15 TNNC2 TNPO3 TOM1 TONSL TP53 TRAF3IP1 TRAPPC2 TREM2 TRIP11 TRMT10A TRPS1 TRPV6 TSPAN12 TTC26 TWNK TYMS TYROBP UBA2 UBE2T UFSP2 UNC45A UNC80 UROD UROS USB1 USP48 USP8 USP9X VAMP7 VCP VDR VPS37D VPS53 WDR11 WDR19 WDR35 WNK1 WNT1 WNT3A WRAP53 WRN WT1 WWOX XRCC2 XYLT2 ZBTB20 ZFPM2 ZMPSTE24 ZNF408 ZNF469 ZNF668 ZNF699 ZSWIM7 HP_ABNORMALITY_OF_CANINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CANINE APC AXIN2 CHSY1 DDX59 EDA EDARADD FGF3 FGFR1 IRF6 KDM1A LRP6 MSX1 PAX9 SUMO1 TGFA WNT10A WNT10B HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY ABCA12 ABCA3 ABCC6 ABCC8 ABCC9 ABCG5 ABCG8 ACAD9 ACADM ACADVL ACTA1 ACTC1 ACTN2 ACY1 ADAMTS19 AGK AGXT AKAP9 AKT1 ALDOA ALG10B ALPK3 AMN ANK2 APOB APRT ARSB ASXL1 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1E1 ATPAF1 ATPAF2 ATRX BAG5 BANF1 BAZ1B BCL7B BMP2 BMP6 BPTF BRAF BRAT1 BRF1 BTNL2 BUD23 BVES C1QBP CACNA1A CACNA1C CACNA1D CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CASR CAV3 CAVIN1 CBL CCND1 CDC45 CDC73 CDH2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CITED2 CIZ1 CLCF1 CLCNKB CLIC2 CLIP2 CLN3 CNBP COL4A1 COQ4 COQ9 COX7B CPOX CPT1A CPT2 CREBBP CRLF1 CRLS1 CRYAB CSF2RA CSF2RB CSRP3 CTLA4 CTNNA3 CTNNB1 CUBN DAXX DBH DCAF17 DEF6 DES DHCR7 DISP1 DLL1 DLST DMD DMPK DNAJC19 DNAJC30 DNMT3A DOHH DOLK DPAGT1 DPP6 DSC2 DSC3 DSG2 DSP DST DTNA DUOX2 DUOXA2 DYSF ECE1 ECHS1 EFEMP2 EIF4H ELN ELP1 EMD ENPP1 EP300 EPAS1 ERCC6 ERCC8 EXOSC5 EYA4 FBP1 FBXL4 FGF8 FGFR1 FH FHL1 FHOD3 FKBP6 FLAD1 FLNC FMO3 FNIP1 FOXC2 FOXH1 FXN GAA GABRA3 GALC GAS1 GATA4 GATA5 GATA6 GATAD1 GBA1 GCGR GDAP1 GFM2 GJA1 GJA5 GLA GLI2 GLUL GLYCTK GMPPB GNA11 GNAI2 GNAQ GNAS GNB2 GNB5 GPC3 GPC4 GPD1L GPX4 GRIN1 GSN GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GYG1 HADH HADHA HADHB HBB HCCS HCN4 HDAC4 HEPHL1 HESX1 HFE HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HNF1A HNF4A HRAS HSPG2 HTRA2 IDS IFNG IKZF1 IPO8 IRX5 ISCU IYD JAG2 JPH2 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ3 KCNJ5 KCNJ8 KCNK3 KCNQ1 KCTD1 KIF1B KIF20A KIT KLHL24 KRAS KYNU LAMA2 LAMA3 LAMB3 LAMC2 LAMP2 LARS2 LDB3 LDLR LDLRAP1 LEMD2 LHX3 LHX4 LIMK1 LIPT1 LMNA LMOD2 LPIN1 LRP1 LRP12 LRP6 LZTR1 MADD MAX MDH2 MECP2 MEFV MEN1 METTL27 MFAP5 MGAT2 MGME1 MLXIPL MMP14 MMP2 MRAS MRPL12 MRPS14 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK2 MYO1H MYOZ2 MYPN MYRF NAA10 NAXD NCF1 NDUFA2 NDUFA8 NDUFAF1 NDUFB11 NDUFS2 NEU1 NEXN NF1 NFIX NKX2-5 NKX2-6 NODAL NOS1AP NPPA NRAS NUP155 OBSCN P4HA2 PAX8 PCCA PCCB PCSK9 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGM1 PHOX2B PHYH PIGU PIK3CA PITX2 PKP2 PLCH1 PLEC PLN PLXND1 PNPLA2 POLG POLG2 POMT2 POU1F1 PPA2 PPOX PPP1CB PRDM16 PRKAG2 PRKAR1A PRKG2 PROP1 PRORP PRTN3 PSAP PSEN1 PSEN2 PSMB8 PSMD12 PTCH1 PTEN PTPN11 PTPN22 PYGM RAB3GAP2 RAF1 RANGRF RASA2 RBM20 RET RFC2 RHAG RHCE RHD RIGI RIT1 RMRP RNASEH1 RNU12 RRAS RRAS2 RRM2B RYR1 RYR2 SALL4 SCN10A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCUBE3 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SELENON SEMA3A SFTPB SFTPC SGCD SGO1 SHH SIX3 SLC12A3 SLC19A2 SLC1A3 SLC25A11 SLC25A20 SLC25A4 SLC2A10 SLC40A1 SLC4A3 SLC5A5 SLC6A8 SLMAP SMAD3 SMC1A SNTA1 SOS1 SOS2 SOX10 SPECC1L SPRED1 SPRED2 SRSF2 SRY STAG2 STIL STX16 STX1A SVIL SYNE1 SYNE2 TAB2 TAFAZZIN TANGO2 TBL2 TBX20 TBX3 TBX5 TCAP TDGF1 TDP2 TECRL TERT TET2 TG TGFB3 TGFBR1 TGFBR2 TGIF1 TLL1 TMEM126B TMEM127 TMEM270 TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TNXB TOP3A TOR1A TOR1AIP1 TP53 TPM1 TPM2 TPM3 TPO TRDN TRPM4 TSC1 TSC2 TSHB TSHR TSPYL1 TTC26 TTN TTPA TTR TWNK UCP2 UQCRFS1 USP18 VEZF1 VHL VPS33A VPS37D WAS WIPF1 WIPI2 XK YY1 ZIC2 ZNF699 ZNRF3 HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR ABCC6 DHX30 EDN1 ENPP1 FGFR2 FGFR3 GNAI3 HS2ST1 MGP NSD2 PLCB4 STEEP1 TCTN3 TWIST1 ZBTB20 ZNF462 HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY AARS1 AARS2 AASS ABAT ABCA5 ABCC8 ABCD1 ACOX1 ACTL6B ADARB1 ADGRG1 ADGRV1 ADK ADRA2B AFG3L2 AGRN AHDC1 AHSG AIMP1 AIMP2 AKT3 ALDH4A1 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG13 ALG14 ALG2 ALG3 AMT ANKRD11 ANKRD17 ANTXR1 AP1S2 AP2M1 AP3B2 AP3D1 APC2 APOL2 APOL4 ARFGEF1 ARFGEF2 ARG1 ARHGAP31 ARHGEF2 ARHGEF9 ARV1 ARX ASL ASNS ASPA ATAD1 ATN1 ATP10A ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATXN1 ATXN10 B3GALNT2 BCS1L BRAF BRAT1 C1QBP CABP4 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1H CACNA2D1 CACNB4 CAMK2A CAMSAP1 CARS2 CASK CASZ1 CCDC47 CCDC88A CDK19 CDK5 CDKL5 CELF2 CEP85L CERS1 CHAT CHD2 CHI3L1 CHMP2B CHRNA2 CHRNA4 CHRNB2 CILK1 CLCN2 CLCN4 CLCN6 CLN5 CLN8 CLTC CLTCL1 CLTRN CNKSR2 CNPY3 CNTN2 CNTNAP2 COL13A1 COMT COX16 COX4I1 CPA6 CPLX1 CPT1C CREBBP CRH CRPPA CSTB CTBP1 CTNNA2 CTNND2 CUL3 CUL4B CUX2 CYFIP2 CYP27A1 D2HGDH DAG1 DALRD3 DAOA DCX DDB2 DEAF1 DENND5A DEPDC5 DHDDS DHPS DIAPH3 DLL4 DMXL2 DNM1 DNM2 DOCK6 DOCK7 DOLK DPAGT1 DPM1 DPM2 DPYD DRD3 EBP EDNRB EEF1A2 EFHC1 EIF2S3 EMC1 EOGT EP300 EPG5 EPM2A ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD EXOC8 FARS2 FBXO28 FDXR FGF12 FGF13 FGFRL1 FKRP FKTN FLCN FLII FOXG1 FOXP1 FRRS1L FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GFM2 GJC2 GLS GLUD1 GLYCTK GMPPB GNAO1 GNB1 GNB2 GNB5 GOLGA2 GON7 GOSR2 GPAA1 GRIA1 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GRN GUF1 HCFC1 HCN1 HECW2 HIBCH HIC1 HID1 HIKESHI HMGCL HNRNPU HRAS HSPG2 HTR2A IARS2 IER3IP1 IQSEC2 IREB2 ITGB6 JRK KANSL1 KARS1 KCNA1 KCNA2 KCNAB2 KCNB1 KCNC1 KCNC2 KCNH1 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KCTD7 KDM6A KIF1A KMT2D KPNA3 KPTN KRAS LAGE3 LAMC3 LARGE1 LARS2 LETM1 LGI1 LIPT2 LMNB1 LONP1 LRPPRC LSS LUZP1 MADD MAF MAP1B MAP2K1 MAP2K2 MAPK10 MAPT MARCHF6 MCOLN1 MDH1 MECP2 MED13L MED17 MFF MFSD8 MGAT2 MMP23B MOGS MORC2 MPDU1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTHFS MTMR2 MTOR MYD88 MYH3 MYO9A NACC1 NALCN NARS2 NAXD NBEA NDP NDRG1 NDUFA9 NDUFAF8 NECAP1 NECTIN1 NEDD4L NEFL NEU1 NEUROD2 NEXMIF NF1 NGLY1 NHLRC1 NLGN3 NLGN4X NLRP3 NMNAT1 NOTCH1 NOTCH2NLC NPRL2 NPRL3 NRAS NSD2 NSF NSRP1 NTNG1 NTNG2 NTRK2 NUP107 NUP133 NUP188 NUS1 OCA2 OCRL OGDHL OPA1 OSGEP OTOF P4HTM PACS2 PAFAH1B1 PARS2 PCDH12 PCDH19 PCK1 PDE2A PDHA1 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHACTR1 PHF6 PHGDH PI4KA PIDD1 PIGA PIGG PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3CA PLAA PLCB1 PLCH1 PLP1 PLPBP PNKP PNPO POGZ POLG POMGNT1 POMT1 POMT2 PPFIBP1 PPP3CA PPT1 PRDM16 PRICKLE1 PRKAG2 PRKCZ PRNP PRODH PRPS1 PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PTPN23 PTRH2 PTS PURA RAI1 RBPJ RELN RERE RIPOR2 RMRP RNF13 ROGDI RPL10 RTN2 RTN4R RTTN RUSC2 SACS SAMD12 SATB1 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEMA6B SETBP1 SETD1B SH3TC2 SHQ1 SIK1 SKI SLC12A5 SLC12A6 SLC13A5 SLC18A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A10 SLC25A22 SLC25A46 SLC2A1 SLC32A1 SLC33A1 SLC35A2 SLC38A3 SLC39A8 SLC44A1 SLC5A7 SLC6A1 SLC6A19 SLC9A6 SMC1A SMS SNAP25 SNIP1 SNRPN SOX10 SPATA5 SPEN SPTAN1 SPTBN1 SPTBN4 SQSTM1 SRPX2 ST3GAL3 ST3GAL5 STARD7 STRADA STUB1 STX1B STXBP1 SUOX SYN2 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TBC1D24 TBC1D2B TBCK TBK1 TBL1XR1 TET3 TFE3 TGFB1 TICAM1 TIMM50 TIMM8A TLR3 TMEM106B TP53RK TPRKB TRAF3 TRAK1 TRAPPC11 TRAPPC12 TREM2 TRIM8 TRIT1 TRPM3 TTPA TUBB2A TUBGCP2 TYROBP UBA5 UBAP1 UBE3A UBE4B UBTF UFC1 UGDH UNC80 UNC93B1 UPB1 VAMP1 VAMP2 VARS1 VARS2 VCP WASHC5 WDR4 WDR45 WDR62 WDR73 WWOX XPA XPC YEATS2 YME1L1 YRDC YWHAE YWHAG ZEB2 ZNF148 ZNF526 ZNHIT3 HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION BEST1 DCT IFNG MAGEL2 MICOS13 OAT PAX6 SIM1 SLC25A15 TSC1 TSC2 VPS33A WT1 HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION BUB1B CDAN1 ESCO2 GJA1 LBR MECP2 NKX2-5 PMFBP1 RAI1 SEC23B SHH SUN5 TRIP13 TSC1 HP_ABNORMALITY_OF_CHROMOSOME_STABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY AKT1 ATM BAP1 BLM BRCA1 BRCA2 BRIP1 CDCA7 CENATAC COX4I1 DCLRE1B DNAJC21 DNMT3B ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FMR1 HELLS LIG4 MAD2L2 MCM4 NBN NF2 PALB2 PDGFB PIK3CA RAD50 RAD51 RAD51C RFWD3 RMRP RNF168 SLX4 SMARCB1 SMARCE1 SMO SUFU TCN2 TERT TINF2 TMEM185A TOP3A TRAF7 UBE2T XRCC2 XRCC4 ZBTB24 HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL AASS ABCC9 ABHD5 ACAD9 ACADM ACADVL ACTA1 ACTC1 ACTN2 ADK ADSS1 AGL AGXT AHCY AIFM1 ALDOA ALG14 ALG2 AMACR AMPD1 AMPD3 ANKRD1 ANO5 ANXA11 AP5Z1 APTX AR ASAH1 ATP5F1D B3GALNT2 B4GALT1 B4GAT1 BAG3 BAG5 BAZ1B BCL7B BICD2 BIN1 BUD23 BVES C19orf12 C1QBP CA2 CACNA1S CAP2 CAPN3 CASQ1 CAV3 CAVIN1 CCDC115 CCDC78 CFL2 CHCHD10 CHKB CLIP2 CNBP CNTN1 COA7 COG6 COG7 COG8 COL12A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COL9A3 COQ2 COX16 COX20 CPT1A CPT2 CRPPA CRYAB CSRP3 DAG1 DCXR DES DGUOK DHX16 DMD DMGDH DNA2 DNAJB4 DNAJB6 DNAJC30 DNM2 DNMT3B DOK7 DOLK DPAGT1 DPM1 DPM2 DPM3 DSG2 DSP DUX4 DUX4L1 DYSF EIF4H ELN EMD ENO3 EPG5 ERGIC1 FAM111B FDX2 FHL1 FHL2 FKBP14 FKBP6 FKRP FKTN FLAD1 FLNC FRG1 GAA GABRA3 GATAD1 GATB GATC GBE1 GFPT1 GGPS1 GIPC1 GMPPB GNE GOLGA2 GOSR2 GTF2I GTF2IRD1 GTF2IRD2 GYG1 HACD1 HADH HADHA HADHB HAND2 HEXB HHAT HINT1 HNRNPA1 HNRNPA2B1 HNRNPDL HSPG2 INF2 INPP5K ISCA1 ISCU ITGA7 ITGB4 JAG2 JPH2 KBTBD13 KCNA1 KCNE3 KCNJ18 KLHL41 KLHL9 KY LAMA1 LAMA2 LAMA4 LAMP2 LARGE1 LDB3 LDHA LIMK1 LIMS2 LIPE LMNA LMOD2 LMOD3 LPIN1 LRP12 LTBP4 LYRM7 MATR3 MB MEGF10 METTL27 MGME1 MICU1 MIEF2 MLIP MLXIPL MPDU1 MPV17 MPZ MSTO1 MT-CO1 MT-CO3 MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MTMR14 MVK MYBPC3 MYF6 MYH14 MYH6 MYH7 MYL1 MYL2 MYMK MYOT MYPN NARS2 NCF1 NEB NEFH NEFL NEXN NFS1 NOTCH2NLC NSUN2 OBSCN OCRL ORAI1 OTUD5 PABPN1 PDK3 PET100 PEX6 PFKM PGAM2 PGM1 PHKA1 PHKA2 PHKB PHKG2 PIEZO2 PIGY PIK3R5 PITRM1 PLA2G6 PLEC PLEKHG5 PLIN4 PLN PLXNA1 PNPLA2 POGLUT1 POLG POLG2 POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPCS PRDM16 PRUNE1 PSEN1 PSEN2 PYGM PYROXD1 QRICH1 QRSL1 RAF1 RBCK1 RBM20 RFC2 RILPL1 RNASEH1 RPL3L RRM2B RXYLT1 RYR1 SCN4A SCN5A SCO2 SCYL2 SDHA SETX SGCA SGCB SGCD SGCG SIL1 SLC12A6 SLC16A1 SLC22A5 SLC25A20 SLC25A4 SLC25A42 SLC30A9 SLC39A14 SMCHD1 SPEG SPTBN4 SQOR SQSTM1 STIM1 STX1A SUCLA2 SUGCT SUOX SVIL SYNE1 SYNE2 SYNJ1 TAF1A TAFAZZIN TANGO2 TBCD TBL2 TCAP TFG TIA1 TIMM22 TK2 TMEM165 TMEM270 TMEM43 TMPO TMTC3 TNNC1 TNNI3 TNNT1 TNNT2 TOP3A TOR1AIP1 TPM1 TPM2 TPM3 TRAPPC11 TRAPPC2L TRIM32 TRIP4 TRMU TRPV4 TSFM TTN TWNK TXNRD2 UBA1 UQCRFS1 USB1 VAC14 VAPB VCL VCP VEZF1 VMA21 VPS13A VPS37D XK YME1L1 HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN AHCY ANK1 B4GALT1 BCOR CD46 CFH CFI EPB42 FGA FGB FGG FIP1L1 GNA14 HAVCR2 HELLPAR IRF2BP2 ITGB2 LYST MCM10 NABP1 NGLY1 NLRC4 NPM1 NUMA1 PML PRF1 PRKAR1A RARA SLC37A4 SLC4A1 SLC7A7 SPTA1 SPTB STAT3 STAT5B STX11 STXBP2 TBL1XR1 TNFRSF9 UNC13D XIAP ZBTB16 HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL AAAS ABCD1 AIRE AKT1 ARMC5 ATRX BAP1 BRAF CBX2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CTNNB1 CYB5A CYP11A1 CYP11B1 CYP11B2 CYP17A1 GATB GATC GLI3 GNAS HSD11B2 HSD3B2 HTR1A KCNJ11 MC2R MEN1 MRAP NF2 NFKB2 NNT NR0B1 NR3C1 PCSK1 PDE11A PDE8B PDGFB PIK3CA POMC POR PRKACA PRKAR1A QRSL1 RET ROBO1 SERPINA6 SMARCB1 SMARCE1 SMO STAR SUFU TBX19 TERT TP53 TRAF7 TXNRD2 USP48 USP8 ZNRF3 HP_ABNORMALITY_OF_COAGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COAGULATION ABCC2 ABCD3 ACAD9 ACD ADK AGA AGGF1 AHCY AKR1D1 ALDOB ALG12 ALG13 ALG2 ALG6 ALG8 AMACR ANK1 ANO6 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BCOR BRAF CACNA1S CBL CD46 CFH CFI CLPB COG2 COG4 COG8 COX16 CTC1 CYP7B1 DDOST DKC1 DLD DPAGT1 DPM1 DPM2 EFL1 EPB42 F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FAH FGA FGB FGG FIP1L1 FLNA FOCAD FOXP2 GALT GATA2 GATA6 GFI1B GGCX GNA14 GNE GP1BA GP1BB GP6 GP9 GPR35 HADH HAVCR2 HBB HELLPAR HLA-DQA1 HLA-DQB1 HMGCL HRG HSD17B10 HSD3B7 IDH1 IDH2 IKZF5 IRF2BP2 ITGA2B ITGB2 ITGB3 KLKB1 KNG1 KRAS LARS1 LMAN1 LRPPRC LYST LZTR1 MAP2K1 MCFD2 MCM10 MGAT2 MICOS13 MPDU1 MPI MRAS MST1 MTTP MYD88 NABP1 NBAS NBEAL2 NGLY1 NHP2 NLRC4 NOP10 NPM1 NR1H4 NRAS NUMA1 ORAI1 OSTM1 OTC PARN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PLG PLOD3 PML PMM2 PRF1 PRKAR1A PROC PROS1 PTH1R PTPN11 RAF1 RARA RASA2 RBM8A RFT1 RINT1 RIT1 RRAS RRAS2 RTEL1 RYR1 SEMA4D SERAC1 SERPINC1 SERPINE1 SERPINF2 SHOC2 SLC25A13 SLC25A15 SLC30A10 SLC37A4 SLC4A1 SLC7A7 SOS1 SOS2 SPRED2 SPTA1 SPTB SRD5A3 SSR4 STAT2 STAT3 STAT5B STIM1 STX11 STXBP2 TBL1XR1 TCF4 TEK TERC TERT THBD TINF2 TNFRSF9 TRMU TYMS UNC13D UQCRFS1 USB1 VKORC1 VPS33A VPS33B VWF WRAP53 XIAP ZBTB16 HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM BANK1 BLK C1QA C1QB C1QC C1S C3 C4A C4B C5 C6 C7 C8A C8B C9 CD46 CFB CFD CFH CFHR1 CFHR3 CFI CFP CR2 CTLA4 DNASE1 DNASE1L3 ETS1 FCGR2B FCGR3B GALK1 HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L LMNA LMNB2 MASP2 MECP2 PACS1 PDCD1 PRKCD PTPN22 PXK SAT1 SERPING1 SLC7A7 SPP1 STAT4 THBD TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 HP_ABNORMALITY_OF_CONNECTIVE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CONNECTIVE_TISSUE AARS1 ABCA4 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABHD12 ABL1 ACADM ACADS ACER3 ACP4 ACTA1 ACTA2 ACTB ACTC1 ACTG2 ACTN2 ADA2 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADCY6 ADGRG1 ADGRG6 ADGRV1 ADNP AEBP1 AGA AGBL5 AGGF1 AGPAT2 AGRN AGTPBP1 AHI1 AHR AHSG AIFM1 AIMP1 AIMP2 AIRE AKT1 AKT2 ALAD ALB ALDH18A1 ALDH1A2 ALDH3A2 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ALG9 ALMS1 ALPL ALS2 ALX1 ALX3 AMBN AMELX AMER1 AMH AMHR2 AMTN ANAPC1 ANAPC7 ANGPT2 ANKH ANKLE2 ANKRD1 ANKRD55 ANO5 ANTXR1 ANTXR2 AP1S2 AP2S1 AP4B1 AP4E1 AP4S1 APC APC2 AR ARF1 ARFGEF2 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARMC5 ARPC1B ARPC4 ARSB ARVCF ARX ASAH1 ASCC1 ASXL1 ASXL3 ATAD1 ATP11A ATP1A2 ATP2A1 ATP5F1D ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATPAF2 ATR ATRIP ATRX AUTS2 AXIN2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D2 BAG3 BAG5 BANF1 BAZ1B BBS1 BBS2 BCAS3 BCL11B BCL7B BCOR BCR BEST1 BGN BHLHA9 BICD2 BIN1 BLM BLNK BLTP1 BMP1 BMPER BMPR1A BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BSCL2 BTK BTNL2 BUB1 BUD23 C18orf32 C19orf12 C1R C1S CA4 CACNA1A CACNA1C CACNA1E CADM3 CAMLG CAMSAP1 CAMTA1 CANT1 CAP2 CAPN3 CARMIL2 CARS1 CASK CASP10 CASZ1 CAV1 CAVIN1 CBS CC2D2A CCBE1 CCDC134 CCDC22 CCDC32 CCDC47 CCDC8 CCL2 CCN2 CCN6 CCR6 CD247 CD79A CD79B CD96 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH11 CDH23 CDH3 CDHR1 CDK13 CDK5 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CDT1 CENPE CENPJ CEP120 CEP152 CEP55 CERKL CFAP418 CFI CFL2 CHAMP1 CHAT CHCHD10 CHD3 CHD7 CHMP1A CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHUK CIB2 CIDEC CLCF1 CLCN3 CLCN4 CLCNKB CLDN1 CLDN11 CLDN19 CLEC7A CLIC2 CLIP2 CLMP CLPB CLRN1 CNGA1 CNGB1 CNNM4 CNTN1 CNTNAP1 COASY COG1 COG5 COG6 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLEC11 COMT COQ6 COQ7 COX11 COX7B CPLX1 CPOX CPT2 CRB1 CREBBP CRKL CRLF1 CRPPA CRTAP CRX CRYAB CSGALNACT1 CSNK2A1 CSRP3 CTBP1 CTCF CTDP1 CTNND2 CTSC CTSK CUL4B CUL7 CWC27 CXCR4 CYBA CYBB CYP26C1 CYP27B1 CYP2R1 DACT1 DAG1 DARS2 DCHS1 DCX DDHD2 DDOST DDR2 DDX59 DDX6 DEGS1 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHODH DHX16 DHX38 DIAPH1 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLX3 DMD DMP1 DMXL2 DNA2 DNAJB4 DNAJB6 DNAJC21 DNAJC30 DNASE2 DNM2 DNMT3A DNMT3B DOK7 DOLK DPAGT1 DPF2 DPH1 DPH2 DPM1 DPM2 DPP9 DPYSL5 DSE DSG2 DSP DSPP DST DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DYSF EBP ECE1 ECEL1 ECM1 EDA EDARADD EED EFEMP2 EFNB1 EHMT1 EIF4H EIF5A ELANE ELMO2 ELN ELOVL4 EMD EMG1 EN1 ENAM ENPP1 EOGT EP300 EPB41L1 EPCAM EPHB4 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 ESPN ESS2 EXOC2 EXOC7 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT2 EXTL3 EYS EZH2 F8 FAM111B FAM161A FAM20A FAM20C FAM83H FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN1 FBN2 FBXO28 FBXW11 FCSK FDFT1 FERMT1 FGD1 FGF10 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FH FHL1 FHL2 FIBP FIG4 FITM2 FKBP10 FKBP14 FKBP6 FKRP FKTN FLCN FLI1 FLNA FLNB FLNC FLRT1 FLT4 FLVCR1 FLVCR2 FOCAD FOS FOXC2 FOXE3 FOXF1 FOXH1 FOXP1 FRAS1 FREM1 FREM2 FSCN2 FTO FUCA1 FUS FUT8 FUZ FXYD2 FZD2 G6PC3 GABRD GAD1 GALNS GALNT3 GARS1 GAS1 GATA1 GATA2 GATA4 GATA6 GATAD1 GBA1 GBE1 GCH1 GCK GCM2 GDAP1 GDF1 GDF11 GDF5 GFI1 GFM2 GFPT1 GJA1 GJA5 GJA8 GJB1 GJB2 GJB6 GJC2 GLB1 GLDN GLE1 GLI2 GLI3 GLIS3 GLRA1 GLRB GLUL GMNN GMPPB GNA11 GNAO1 GNAS GNB2 GNE GNPAT GNPTAB GNRH1 GNRHR GNS GOLGA2 GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GPR68 GPT2 GRHL2 GRIA4 GRID2 GRIN1 GRIN2B GRIP1 GRM7 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUSB GZF1 H1-4 H19 H3-3A H4C3 H4C5 H4C9 HACD1 HAND2 HAVCR2 HBA1 HBA2 HCCS HDAC4 HDAC8 HELLS HEPACAM HES7 HESX1 HEXB HEY2 HGSNAT HIC1 HIKESHI HINT1 HIRA HIVEP2 HK1 HLA-A HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HNRNPA1 HOXD13 HPDL HPGD HRAS HS2ST1 HS6ST1 HSPB1 HSPD1 HSPG2 HUWE1 HYAL1 HYLS1 HYMAI IARS2 IBA57 IDH1 IDH3A IDH3B IDS IDUA IFIH1 IFITM5 IFNG IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IFT88 IGF1R IGF2 IGHM IGHMBP2 IGLL1 IKBKG IL17F IL17RA IL17RC IL2RA IL2RB IL6R IL6ST IMPDH1 IMPDH2 IMPG1 IMPG2 INF2 INPP5E INPP5K INS INSR IPO8 IRF5 IRF6 IRX5 ISL1 ITCH ITGA6 ITGA7 ITGB4 ITGB6 IYD JAG2 JARID2 JMJD1C JPH2 JUP KAT6B KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ1 KCNJ11 KCNJ2 KCNJ6 KCNJ8 KCNK9 KCNN3 KCNQ1 KCNQ1OT1 KCTD1 KDF1 KDM3B KDM5B KDM5C KDM6A KIAA0319L KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF21A KIF22 KIF26A KIF5A KIF5C KIF7 KISS1 KISS1R KIZ KLC2 KLHL40 KLHL41 KLHL7 KLHL9 KLK4 KLLN KMT2A KMT2B KMT2C KMT2D KNSTRN KRAS KRT1 KRT14 KRT16 KRT5 KRT9 KY L1CAM LAGE3 LAMA2 LAMA3 LAMA4 LAMA5 LAMB3 LAMC2 LARGE1 LBR LCK LDB3 LDHD LEMD2 LEMD3 LETM1 LFNG LGI4 LHX3 LHX4 LIAS LIFR LIMK1 LIMS2 LIPE LMBR1 LMBRD2 LMF1 LMNA LMNB1 LMNB2 LMOD1 LMOD2 LMOD3 LMX1B LONP1 LOX LPIN2 LRAT LRP1 LRP2 LRP4 LRP6 LRPPRC LRRC8A LSM11 LSS LTBP1 LTBP3 LTBP4 LUZP1 LZTR1 MAD1L1 MAD2L2 MAF MAFB MAGEL2 MAK MAMLD1 MAN1B1 MAN2B1 MAP1B MAP3K20 MAP3K7 MAPK1 MAPRE2 MARS1 MASP1 MAT2A MBTPS1 MBTPS2 MC4R MCTP2 MDFIC MECP2 MECR MED11 MED12 MED13L MED25 MEFV MEG3 MEGF10 MEGF8 MEIS2 MEN1 MERTK MESP2 MET METTL27 MFAP5 MFN2 MIA3 MID1 MKS1 MLH1 MLH3 MLXIPL MMP1 MMP14 MMP2 MMP20 MMP23B MN1 MORC2 MPDU1 MPEG1 MPLKIP MPV17 MRPS34 MSH2 MSH6 MSL3 MSTO1 MSX1 MT-ND5 MT-RNR1 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MTFMT MTHFR MTM1 MTMR14 MTOR MTRFR MTX2 MUSK MYBPC1 MYBPC3 MYH11 MYH2 MYH3 MYH6 MYH7 MYH8 MYL1 MYL11 MYL2 MYLK MYMK MYO18B MYO7A MYO9A MYOD1 MYOT MYPN MYRF MYSM1 NAA10 NACC1 NALCN NARS1 NAT8L NCAPG2 NCF1 NCF2 NCSTN NDE1 NDRG1 NDUFA8 NDUFAF4 NDUFAF5 NDUFB11 NEB NECTIN1 NECTIN4 NEDD4L NEFL NEK2 NEK9 NELFA NEU1 NEUROD2 NEXN NF1 NF2 NFATC2 NFIA NFIX NGLY1 NHLH2 NIPBL NKAP NKX2-5 NKX3-2 NLRP1 NLRP3 NMNAT1 NOD2 NODAL NOG NOTCH1 NOTCH2 NOTCH3 NPHP3 NPPA NR2E3 NR2F2 NR3C1 NR4A2 NRCAM NRL NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NT5C2 NTRK1 NUAK2 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCLN OCRL ODAPH ODC1 OFD1 OPA1 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTULIN P3H1 P4HB P4HTM PACS1 PAFAH1B1 PAK2 PALB2 PAX3 PAX7 PAX8 PAX9 PBX1 PCARE PCDH15 PCNA PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDGFRB PDHA1 PDPN PDX1 PDXK PDZD7 PERP PEX1 PEX2 PEX5 PEX6 PEX7 PGAP1 PHACTR1 PHEX PHF6 PHGDH PI4KA PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGP PIGQ PIGS PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PIP5K1C PITX1 PKP1 PLA2G6 PLAA PLAG1 PLAGL1 PLCG2 PLCH1 PLD1 PLEC PLEKHG5 PLIN1 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PMM2 PMP22 PMS1 PMS2 PNKP PNPT1 POGZ POLA1 POLD1 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3GL POMC POMGNT1 POMK POMP POMT1 POMT2 POP1 POR PORCN POU1F1 PPARG PPCS PPIB PPM1D PPOX PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PPT1 PQBP1 PRCD PRDM12 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKAR1A PRKCD PRKCZ PRKG1 PRKG2 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRR12 PRUNE1 PSAT1 PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN2 PTPN22 PTRH2 PUF60 PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RARS2 RASGRP1 RBBP8 RBM20 RBM28 RBP3 RDH12 RECQL4 REEP1 REEP6 RELT RERE REV3L RFC1 RFC2 RFT1 RFWD3 RFX7 RGR RHO RHOA RIC1 RIN2 RIPK4 RIPPLY2 RLBP1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNF2 RNU12 RNU4ATAC RNU7-1 ROGDI ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPL10 RPL3L RPS20 RPS26 RPS28 RPS6KA3 RREB1 RSPO2 RTL1 RTTN RUNX2 RYR1 RYR3 SAG SALL1 SALL4 SAMHD1 SATB1 SATB2 SCAPER SCARF2 SCN1B SCN2A SCN4A SCN5A SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SEC24C SEC24D SEC31A SELENON SEMA4A SEMA5A SEPSECS SERPINF1 SERPINH1 SET SETBP1 SETD2 SF3B4 SGCA SGCD SGCG SGSH SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SHOC2 SHPK SIGMAR1 SIK1 SIK3 SIL1 SIN3A SIX3 SIX6 SKI SKIC2 SKIC3 SLC10A7 SLC12A1 SLC12A3 SLC12A6 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC1A4 SLC24A4 SLC25A1 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC2A2 SLC32A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC39A7 SLC39A8 SLC5A5 SLC5A6 SLC5A7 SLC6A5 SLC6A9 SLC7A14 SLC9A6 SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMOC1 SMOC2 SMPD4 SMS SNAP25 SNIP1 SNRNP200 SNRPB SNX14 SON SOX10 SOX11 SOX18 SOX4 SOX6 SOX9 SP6 SP7 SPARC SPART SPATA7 SPECC1L SPEG SPEN SPG11 SPI1 SPRED1 SPRTN SPRY4 SPTBN4 SPTLC1 SRCAP SRD5A3 SRP19 SRP54 SRPX2 STAC3 STAG2 STAT3 STAT4 STIL STIM1 STRA6 STX16 STX1A SUCLG1 SUMO1 SUZ12 SVIL SYNE1 SYNE2 SYT1 SYT2 TAC3 TACR3 TAF1 TAF1A TAFAZZIN TAPT1 TARS1 TASP1 TBC1D20 TBC1D2B TBCD TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX3 TBX4 TBXT TCAP TCF3 TCF4 TCIRG1 TCOF1 TCTN3 TDGF1 TDO2 TELO2 TENT5A TFAP2A TFE3 TG TGDS TGFA TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM1 THOC6 THRA THSD4 TLK2 TMCO1 TMEM107 TMEM165 TMEM216 TMEM218 TMEM222 TMEM270 TMEM43 TMEM67 TMEM70 TMEM94 TMPO TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNNC1 TNNC2 TNNI2 TNNI3 TNNT1 TNNT2 TNNT3 TNPO3 TNRC6B TNXB TOP3A TOPORS TOR1A TOR1AIP1 TP53 TP53RK TP63 TPM1 TPM2 TPM3 TPO TPRKB TRAF3IP2 TRAF7 TRAIP TRAK1 TREM2 TREX1 TRIM2 TRIM37 TRIM8 TRIP11 TRIP13 TRIP4 TRMT10A TRPS1 TRPV3 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN54 TSHB TSHR TTC26 TTC7A TTC8 TTN TUB TUBA1A TUBB TUBB3 TULP1 TWIST2 TXNL4A TXNRD2 TYROBP UBA1 UBE2T UBE4B UCHL1 UFC1 UFD1 UNC80 UPF3B UROD UROS USF3 USH1C USH1G USH2A USP48 USP7 USP8 VAMP1 VANGL1 VANGL2 VARS1 VCL VDR VEGFC VEZF1 VIPAS39 VMA21 VPS11 VPS33A VPS33B VPS35L VPS37D VPS4A VPS53 VRK1 VWA1 WASHC5 WDR11 WDR19 WDR26 WDR35 WDR4 WDR45B WDR72 WDR73 WHRN WIPI2 WLS WNT10A WNT10B WNT3 WNT4 WNT5A WNT7A WNT7B WRN WT1 XRCC2 XRCC4 XYLT1 YRDC YWHAE YY1 ZBTB20 ZBTB24 ZBTB42 ZBTB7A ZC4H2 ZDHHC9 ZEB1 ZEB2 ZFHX2 ZFP57 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZNF335 ZNF407 ZNF408 ZNF469 ZNF513 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_COORDINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COORDINATION AAAS AARS1 AARS2 AASS ABCA2 ABCA5 ABCA7 ABCB7 ABCC8 ABCD1 ABHD12 ABHD16A ABHD5 ACADM ACADS ACAT1 ACBD5 ACD ACO2 ACOX1 ACOX2 ACTA1 ACTL6B ADA2 ADAR ADCY5 ADGRG1 ADGRV1 ADPRS ADSL ADSS1 AFF2 AFG3L2 AGRN AGTPBP1 AHDC1 AHI1 AIFM1 AKT1 ALDH18A1 ALDH5A1 ALG11 ALG13 ALG14 ALG2 ALG6 ALG8 ALMS1 ALS2 AMACR AMFR ANK1 ANO10 ANOS1 AP1S2 AP2M1 AP3B2 AP4M1 AP5Z1 APC APC2 APOB APP APTX ARCN1 ARG1 ARHGEF2 ARID1B ARL13B ARL3 ARL6 ARMC9 ARSA ARSG ARV1 ARX ASAH1 ASL ASS1 ATAD1 ATAD3A ATCAY ATG5 ATG7 ATL1 ATM ATN1 ATP10A ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP7B ATP8A2 ATP9A ATPAF1 ATPAF2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH B4GALNT1 B9D1 B9D2 BAP1 BAZ1B BBS1 BCKDHA BCKDHB BCL11A BCL7B BCS1L BEAN1 BMP15 BMPR1B BNC1 BOLA3 BRAT1 BRCA1 BSCL2 BSND BTD BUD23 C12orf4 C19orf12 C4A CA8 CACNA1A CACNA1B CACNA1G CACNA2D1 CACNA2D2 CACNB4 CAMK2B CAMTA1 CAPN1 CAPN3 CARS1 CASK CAV1 CAV3 CBY1 CC2D2A CCDC141 CCDC28B CCDC78 CCDC88C CCR1 CDC42 CDC42BPB CDH23 CDK19 CDKL5 CELF2 CEP104 CEP120 CEP164 CEP290 CEP41 CEP78 CERS1 CFL2 CHAMP1 CHAT CHCHD10 CHD2 CHD7 CHD8 CHMP1A CHP1 CIB2 CIITA CISD2 CLCN2 CLCN4 CLCNKA CLCNKB CLIP2 CLN3 CLN5 CLN6 CLN8 CLPB CLRN1 CLTC CLTRN CNKSR2 CNTNAP2 COA7 COA8 COG4 COG5 COG8 COL12A1 COL13A1 COL18A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COQ5 COQ8A COX10 COX20 COX6B1 CP CPLANE1 CPLX1 CPS1 CRAT CREBBP CRPPA CSF1R CSNK2A1 CSPP1 CSTB CTBP1 CTC1 CTDP1 CTNNA2 CTSD CTSF CTSH CUL4B CUX1 CWF19L1 CXCR4 CYFIP2 CYP27A1 CYP7B1 DAB1 DALRD3 DARS1 DARS2 DBT DCC DCHS1 DCPS DCX DDB2 DEAF1 DEGS1 DGUOK DHDDS DHFR DHX30 DKC1 DKK1 DLAT DLD DLK1 DLL1 DMPK DMXL2 DNAJC13 DNAJC19 DNAJC3 DNAJC30 DNAJC5 DNAJC6 DNAL4 DNASE1L3 DNM1 DNM1L DNMT1 DOCK3 DOHH DPAGT1 DPM1 DPP9 DPYSL5 DUSP6 DYM DYNC1H1 DYRK1A EBF3 EDNRB EED EEF1A2 EEF2 EIF2AK2 EIF2S3 EIF4G1 EIF4H ELN ELOVL1 ELOVL4 ELOVL5 ELP1 EP300 EPB42 EPM2A EPRS1 ERAP1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESPN ETHE1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EZH2 FA2H FAM149B1 FAS FASTKD2 FAT2 FAT4 FBXL4 FBXO28 FBXW7 FDXR FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FHL1 FIG4 FKBP6 FKRP FKTN FLRT3 FLVCR1 FMR1 FOCAD FOXG1 FOXI1 FOXP2 FOXRED1 FRMD4A FRMD5 FRMPD4 FRRS1L FSHR FTL FUS FXN FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GALC GALT GAMT GBA1 GBA2 GBE1 GCDH GCH1 GCK GCLC GDAP1 GDAP2 GEMIN5 GFAP GFPT1 GGT1 GIGYF2 GJA1 GJB1 GJC2 GLB1 GLRA1 GLRB GLRX5 GLS GMPPA GMPPB GNAO1 GNB5 GNE GOSR2 GPAA1 GPHN GPI GRIA2 GRID2 GRIK2 GRIN1 GRIN2A GRIN2D GRM1 GRM7 GRN GSN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H4C5 HACE1 HADHA HADHB HARS1 HAX1 HCN1 HCRT HEPACAM HERC1 HERC2 HESX1 HEXB HIBCH HIC1 HIKESHI HINT1 HIVEP2 HK1 HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HNRNPA1 HNRNPH1 HNRNPH2 HPDL HS6ST1 HSD17B10 HSD17B4 HTRA1 HTT HUWE1 HYLS1 IFNGR1 IFRD1 IFT140 IFT74 IL10 IL12A IL12A-AS1 IL17RD IL23R IMPDH2 INPP5E INPP5K INS INVS IQCB1 IQSEC1 IRF2BPL IRF4 ISCU ITM2B ITPR1 JAM2 KARS1 KATNIP KBTBD13 KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNJ10 KCNJ11 KCNJ16 KCNMA1 KCNN2 KCNQ2 KCTD7 KDM4B KDM5B KIAA0586 KIAA0753 KIF1A KIF1B KIF1C KIF5A KIF7 KIT KLHL41 KLLN KLRC4 KNSTRN L1CAM L2HGDH LAGE3 LAMA1 LAMB2 LARGE1 LARS2 LETM1 LGI3 LIG3 LIMK1 LINGO1 LITAF LMBRD1 LMNB1 LMNB2 LNPK LONP1 LRP12 LRP4 LRPPRC LRRK2 LYRM7 LYST LZTFL1 MAB21L1 MAG MAGEL2 MAN1B1 MAN2B1 MAPK8IP3 MAPT MARS1 MARS2 MAST1 MBD5 MCM3AP MCOLN1 MECP2 MECR MED13L MEFV MEG3 METTL27 MFN2 MFSD2A MFSD8 MICOS13 MICU1 MKRN3 MKS1 MLC1 MLXIPL MMACHC MMADHC MME MOG MORC2 MPDU1 MPLKIP MPV17 MPZ MRE11 MRPL12 MRPS22 MSH4 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTPAP MTR MTRFR MTTP MVK MYD88 MYO5A MYO7A MYO9A MYORG MYPN NAA20 NADK2 NAGS NALCN NANS NARS1 NAT8L NAXD NAXE NCF1 NDNF NDRG1 NDST1 NDUFA1 NDUFA11 NDUFA13 NDUFA4 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEDD4L NEFH NEFL NELFA NEMF NEU1 NEUROD2 NEXMIF NF1 NF2 NFASC NFIX NGLY1 NHLRC1 NIPA1 NIPA2 NKX2-1 NKX6-2 NMNAT1 NOL3 NONO NOP56 NOTCH2NLC NPAP1 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPTX1 NR4A2 NR5A1 NRCAM NSD1 NSD2 NTN1 NTNG1 NTRK2 NUBPL NUDT2 NUP107 NUP214 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OFD1 OGDH OGDHL OPA1 OPA3 OPHN1 OTC OTUD6B OXR1 P2RY11 P4HA2 PACS2 PAFAH1B1 PAK1 PAK3 PANK2 PARN PARS2 PAX6 PCDH15 PCDH19 PCNA PDCD1 PDCD6IP PDE10A PDE2A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDHB PDHX PDP1 PDX1 PDYN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGK1 PGM2L1 PGM3 PHYH PI4KA PIBF1 PIDD1 PIEZO2 PIGA PIGG PIGK PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3CA PIK3CD PIK3R5 PITRM1 PLA2G6 PLD3 PLEC PLEKHG4 PLP1 PMM2 PMP2 PMP22 PMPCA PMPCB PNKP PNP PNPLA6 PNPLA8 PNPT1 PODXL POGZ POLG POLG2 POLR1C POLR3A POLR3B POLR3H POLR3K POMT1 POMT2 POU3F4 POU4F1 PPP1R15B PPP1R21 PPP2R1A PPP2R2B PPP2R5D PPP3CA PPT1 PRDM13 PRDM8 PRDX3 PRF1 PRICKLE1 PRKCG PRNP PRODH PROK2 PROKR2 PRPS1 PRRT2 PRX PSAP PSEN1 PSEN2 PSMC3IP PTEN PTPN22 PTRH2 PTS PUM1 PURA PWAR1 PWRN1 PYCR2 PYROXD1 RAB11B RAD50 RAD51 RAI1 RARS1 RDH11 REEP1 REEP2 REPS1 RFC1 RFC2 RFT1 RFX5 RFXANK RFXAP RIMS2 RIPK4 RNASEH1 RNASET2 RNF113A RNF125 RNF168 RNF216 RNF220 RNU12 ROGDI RORA RPGRIP1L RPIA RPL10 RRM2B RTEL1 RTL1 RTN2 RTN4IP1 RUBCN RUSC2 RYR1 RYR3 SACS SAMD9L SARDH SARS1 SATB1 SBF2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SEMA3A SEMA6B SET SETD2 SETX SFXN4 SGCA SGCG SGPL1 SH3TC2 SHMT2 SIGMAR1 SIK1 SIL1 SIM1 SIN3A SLC12A3 SLC12A6 SLC13A3 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC20A2 SLC22A5 SLC25A1 SLC25A15 SLC25A22 SLC25A4 SLC25A42 SLC25A46 SLC26A4 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC32A1 SLC35A1 SLC35C1 SLC38A3 SLC39A14 SLC39A4 SLC44A1 SLC46A1 SLC4A1 SLC52A2 SLC52A3 SLC5A6 SLC5A7 SLC6A1 SLC6A19 SLC6A5 SLC6A8 SLC7A6OS SLC9A1 SLC9A6 SMAD4 SMARCA2 SMARCB1 SMARCE1 SMC1A SMC5 SMG9 SMO SMPD1 SNAI2 SNAP25 SNAP29 SNCA SNORD115-1 SNORD116-1 SNORD118 SNRPN SNX14 SOD1 SORL1 SOX10 SPART SPAST SPEN SPG11 SPG21 SPG7 SPIDR SPR SPRY4 SPTA1 SPTB SPTBN1 SPTBN2 SPTLC1 SQSTM1 SRD5A3 SRPX2 STARD7 STAT3 STAT4 STIM1 STN1 STUB1 STX1A STX1B STXBP1 SUCLA2 SUFU SUMF1 SUOX SUPT16H SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACR3 TAF1 TANC2 TANGO2 TARDBP TARS1 TAT TBC1D23 TBC1D24 TBC1D2B TBCD TBCE TBK1 TBL2 TBP TCF20 TCF4 TCN2 TCTN1 TCTN2 TCTN3 TDP1 TDP2 TECPR2 TELO2 TERC TERT TGFB1 TGM6 TH THG1L TIA1 TIMMDC1 TINF2 TK2 TLR4 TMEM106B TMEM107 TMEM126B TMEM138 TMEM163 TMEM216 TMEM218 TMEM231 TMEM237 TMEM240 TMEM270 TMEM63A TMEM67 TMEM70 TNFSF4 TNPO2 TOE1 TOGARAM1 TOMM40 TOP3A TOPORS TPK1 TPM2 TPM3 TPP1 TPR TPRKB TRAF3IP1 TRAF7 TRAK1 TRANK1 TRAPPC11 TRAPPC6B TREM2 TRIM8 TRIO TRNT1 TRPC3 TSFM TSHB TSPOAP1 TTBK2 TTC19 TTN TTPA TTR TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBG1 TWNK TXN2 UBA5 UBAC2 UBAP1 UBE3A UBE3C UBTF UCHL1 UFC1 UQCRQ UROC1 USF3 USH1C USH1G USH2A VAMP1 VARS2 VCP VLDLR VPS13A VPS13D VPS35 VPS37D VPS41 VPS4A VPS51 VRK1 VWA1 VWA3B WARS1 WARS2 WASHC5 WDR11 WDR19 WDR26 WDR73 WDR81 WFS1 WHRN WWOX XPA XPC XRCC1 XRCC4 YME1L1 YWHAE YWHAG ZBTB11 ZBTB20 ZEB2 ZFYVE26 ZNF142 ZNF365 ZNF423 ZNF592 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_CORNEAL_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_SIZE AARS1 ACTB ACTG1 ADAMTS18 ANK1 ANTXR1 ARL2 ATOH7 B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCL7B BCOR BEST1 BMP4 BRD4 BUD23 CARS1 CC2D2A CDH11 CENPF CEP290 CHN1 CHRDL1 CHST14 CLIP2 COL11A1 COL4A1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTCF CTDP1 DAG1 DEAF1 DNAJC30 DPYD EBP EIF4H ELN ERCC2 ERCC3 ERCC6 ERCC8 FANCB FBN1 FGD1 FGF3 FGFR2 FKBP14 FKBP6 FKRP FKTN FLI1 FLII FOXE3 FOXL2 FZD4 GJA1 GJA8 GMPPB GNPTAB GORAB GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HMGB3 HMX1 HSPG2 IQSEC2 JAG1 KCNMA1 KDM6A KIF11 KIFBP KMT2D KRAS LARGE1 LETM1 LIMK1 LMX1B LTBP2 MAB21L2 MAF MAFB MAPRE2 MED25 METTL27 MIR184 MITF MKS1 MLXIPL MPLKIP MT-CYB NAA10 NCF1 NDP NELFA NHS NIPBL NSD2 OTX2 PAX6 PIGG PIK3R1 PITX2 PITX3 PLK4 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP2CA PRDM5 PRR12 PRSS56 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RBP4 RECQL4 RFC2 RNF113A RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL4 SC5D SH3PXD2B SLC16A12 SMC1A SMC3 STX1A TARS1 TBC1D20 TBL1XR1 TBL2 TBX15 TBX22 TCTN1 TCTN2 TCTN3 TEK TENM3 TFAP2A TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TUBB TXNDC15 UBE3B VPS37D WNT3 ZEB2 HP_ABNORMALITY_OF_CORNEAL_THICKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_THICKNESS ABCA4 AGBL5 AHI1 AHR AIPL1 ANTXR1 AP1B1 ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 CA4 CC2D2A CDHR1 CEP290 CERKL CFAP418 CHRDL1 CHST6 CLRN1 CNGA1 CNGB1 COL3A1 CRB1 CRX DCN DDR2 DHDDS DHX38 EYS FAM161A FGF10 FGFR2 FGFR3 FSCN2 GDF6 GNB5 GUCA1B GUCY2D HGSNAT HRAS IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 IQCB1 KCNJ13 KERA KIAA1549 KIZ KLHL7 LCA5 LMX1B LRAT MAK MERTK MIR184 NEK2 NMNAT1 NR2E3 NR2F1 NRL OFD1 PCARE PCYT1A PDE6A PDE6B PDE6G PIEZO2 PLOD1 POMGNT1 PRCD PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SLC2A10 SLC4A11 SLC7A14 SNRNP200 SPATA7 TOPORS TTC8 TUB TUBA3D TUBB4B TULP1 USH2A USP45 VSX1 ZEB1 ZNF408 ZNF469 ZNF513 HP_ABNORMALITY_OF_CRANIAL_SUTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CRANIAL_SUTURES AARS1 AASS ABCC8 ACE ACTB ACTG1 ADAMTS2 ADAMTS3 ADAMTSL1 ADARB1 ADSL AFF4 AGO2 AGT AGTR1 AHDC1 AIFM1 AKT1 ALDH18A1 ALG9 ALPL ALX4 AMER1 ANKRD11 ANTXR1 APC2 ARID2 ARVCF ASPA ASXL1 ASXL3 ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP B3GALT6 B3GAT3 B3GLCT B4GALT7 BANF1 BCL11B BICRA BMP1 BMP4 BPNT2 CAMSAP1 CARS1 CASZ1 CCBE1 CCDC134 CCNQ CDC45 CDC6 CDH11 CDK8 CDKN1C CDT1 CENPE CENPJ CEP120 CEP152 CEP57 CHD4 CHD5 CHST14 CHST3 CLCN3 CLCN7 COL11A1 COL1A1 COL1A2 COL25A1 COLEC10 COLEC11 COMT CREB3L1 CREBBP CRTAP CTCF CTSK CWC27 CYP26B1 CYP27B1 CYP2R1 DCHS1 DDB1 DDX6 DIAPH1 DLK1 DMP1 DNA2 DNMT3A DONSON DPF2 DPH1 DPH2 DSE DUOX2 DUOXA2 EFEMP2 EFNB1 ELN ENPP1 EP300 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERF ERMARD ESCO2 EXOC8 EXTL3 FAM111A FAM20C FAT4 FBLN5 FBN1 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FLNA FLNB FOXG1 FREM1 GABRD GCK GH1 GJA1 GJA5 GJA8 GLI3 GLIS3 GMNN GNPTAB GORAB GP1BB GPC3 GPC4 GPC6 GRB10 GTF2E2 GTF2H5 H19 H3-3B H4C9 HDAC4 HERC1 HESX1 HIRA HNRNPK HNRNPU HPGD HSD17B4 HSPG2 HUWE1 IFITM5 IFT122 IFT140 IFT43 IFT52 IGF2 IL11RA IL6ST INS INTU IPO8 IRX5 IYD JMJD1C KANSL1 KAT6A KCNAB2 KCNJ11 KCNQ1 KCNQ1OT1 KDELR2 KDM4B KDM5B KIF1A KPTN KRAS KRT14 KRT5 LEMD2 LHX3 LHX4 LIG4 LMNA LMX1B LRP5 LTBP1 LUZP1 MAF MAN2B1 MAP1B MAP3K7 MAPK1 MASP1 MED12 MEG3 MEGF8 MESD MID1 MMP14 MMP2 MMP23B MPLKIP MSX2 MTX2 MYH3 NAA10 NARS2 NCAPG2 NFIA NFIX NLRP3 NOTCH2 NOTCH3 NSD1 NSRP1 NSUN2 NUP188 NUP85 ORC1 ORC4 ORC6 OTUD5 P3H1 P4HB PAM16 PCDHGC4 PCNT PDGFRB PDPN PDX1 PEX1 PEX14 PEX19 PEX2 PHEX PIGA PIGO PIGT PLK4 PLOD2 POGZ POLA1 POLR3A POR POU1F1 PPFIBP1 PPIB PPP1CB PPP1R21 PPP2R1A PPP3CA PRDM16 PRIM1 PRKCZ PRKG2 PROP1 PSAT1 PTCH1 PTDSS1 PTEN PURA PYCR1 RAB23 RAC3 RBBP8 RBM10 RECQL4 REN RERE RETREG1 RNF113A RNF125 RNU12 RNU4ATAC ROR2 RPS19 RPS6KA3 RREB1 RSPRY1 RTL1 RTTN RUNX2 SC5D SCARF2 SCN9A SCUBE3 SEC23A SEC24C SEC24D SETBP1 SETD1A SETD2 SH2B1 SH3PXD2B SIX2 SKI SLC12A6 SLC25A24 SLC2A10 SLC34A3 SLC35A2 SLC39A8 SLC5A5 SMAD3 SMAD6 SMARCD1 SMC3 SMG9 SMO SNX10 SON SP7 SPECC1L SPEN SRCAP STAT3 STXBP1 TANC2 TAPT1 TARS1 TBC1D24 TBCE TBCK TBX1 TCF12 TCIRG1 TENT5A TG TGFBR1 TGFBR2 THRA TLK2 TMCO1 TMEM216 TNFSF11 TOGARAM1 TPO TRAIP TRPV6 TSHB TWIST1 UBE4B UFD1 USP7 VAC14 VDR WDR19 WDR35 WNK1 YY1 ZEB2 ZFHX4 ZIC1 ZMPSTE24 ZNF292 ZNF462 ZNF699 HP_ABNORMALITY_OF_CYTOKINE_SECRETION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CYTOKINE_SECRETION MEFV NFKBIA PRF1 STX11 STXBP2 UNC13D HP_ABNORMALITY_OF_DENTAL_COLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_COLOR ADGRV1 ALMS1 AMBN CNNM4 COL17A1 DLX3 DSPP ENAM FAM20A GALNS GATA1 GLB1 HRAS ITGB4 ITGB6 KCNJ2 KCNJ5 KLK4 KRAS KRT14 MMP20 MYO7A NRAS PDZD7 RELT ROGDI SATB1 SLC13A5 SLC24A4 UROD UROS USH2A WHRN HP_ABNORMALITY_OF_DENTAL_ERUPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_ERUPTION ABCA5 ACP5 ADAMTS3 ADAMTSL1 ADNP AMER1 AMMECR1 ANAPC1 ANTXR1 APC APC2 ARHGAP29 ARHGEF38 ARID1A ARID1B ARID2 ARSB ATP6V0A2 ATP6V1B2 AXIN2 BCL11B BCOR BMP4 BRD4 C2CD3 CA2 CAMK2B CBFB CCBE1 CCDC8 CDH1 CDH11 CEP120 CHD7 CHST3 CILK1 CLCN7 COBLL1 CREBBP CRTAP CTSK CUL7 CYP27B1 CYP2R1 DEAF1 DHCR7 DLG1 DLX4 DMP1 DNAJC21 DPF2 DPH1 DPYD DSP DVL1 DYNC2LI1 EDA EDA2R EDARADD EDNRA EFL1 EHMT1 ELMO2 ENPP1 EP300 ERCC1 ERCC4 ERCC6 ERCC8 EVC EVC2 FAM111A FAM20A FAM20C FAT4 FGD1 FGF3 FGFR1 FGFR2 FLII FLNA FLNB GDF5 GHR GJA1 GLI1 GLI3 GNAS GNB2 GRHL2 GTF2H5 HDAC4 HDAC8 HOXD13 IDS IFIH1 IGF1 IKBKG IL11RA IL6ST INSR INTU IQSEC2 IRF6 JUP KAT6B KCNH1 KCNJ2 KCNJ5 KCTD1 KDF1 KDM6A KIF7 KMT2C KMT2D KRT16 KRT17 KRT6A KRT6B LEMD2 LIG4 LMNA LONP1 LRP6 MAP3K7 MIA3 MID1 MKS1 MMP2 MSX1 MYSM1 NAA10 NDUFB11 NECTIN1 NEK1 NFIX NIPBL NPHS1 NSD1 NSUN2 OBSL1 OCRL P4HB PAPPA2 PAX9 PDE4D PDGFRA PDGFRB PIGA PIGF PIGL PIK3R1 POLR3A POLR3B PORCN PRKACA PRKACB PRKAR1A PTCH1 PTH1R PTHLH PUS7 RAB23 RAD21 RAI1 RECQL RECQL4 RHOA RIC1 ROR2 RPS6KA3 RUNX2 SATB1 SBDS SEC23A SEC24D SEMA3E SETBP1 SETD2 SFRP4 SH3BP2 SH3PXD2B SLC13A5 SLC1A2 SLC29A3 SLC37A4 SLC39A13 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SNX10 SNX14 SOX11 SOX4 SP7 SPECC1L SRCAP SRP54 STAT3 STX16 SUMO1 SUOX TBC1D24 TCF4 TCIRG1 TEKT3 TFAP2B TGFA TGFB1 THRA TNFRSF11A TNFSF11 TONSL TP63 TRIO TRIP11 TRPS1 TWIST2 UBR1 VARS1 VDR WNT10A WNT10B WNT5A ZBTB7A ZEB2 ZMPSTE24 ZSWIM6 HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY ABCC9 ADAMTS10 ADAMTS3 ADGRV1 ADNP ALX4 ANAPC1 ANKRD11 ANTXR2 ARHGAP29 ARHGEF38 ARID1B ATP6V0A2 ATP6V1B2 ATR AXIN2 B3GALT6 B3GAT3 B3GLCT BAZ1B BCL11B BCL7B BCOR BMP4 BRCA1 BRF1 BUD23 C1R C1S CACNA1C CACNA1I CCBE1 CCDC47 CDH1 CDH11 CDH3 CDK10 CDK13 CHD3 CHST3 CHSY1 CKAP2L CLCN7 CLIP2 COBLL1 COL11A1 COL3A1 CREBBP CSTB CTC1 CTCF CTNND1 DCHS1 DEAF1 DHCR7 DHODH DHX37 DKC1 DLG1 DLX3 DLX4 DNAJC21 DNAJC30 DPF2 DPH2 DYNC2LI1 EDA EDA2R EDAR EDARADD EIF4H ELN ENAM EP300 EVC EVC2 EYA1 FAM20C FARS2 FAT4 FBN1 FBXO28 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FKBP6 FLII FOXC1 GALNT3 GHR GJA1 GJA5 GJA8 GJB2 GLI1 GRB10 GREM2 GRIA3 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HEPHL1 HRAS HS2ST1 IDS IDUA IFIH1 IFT122 IFT140 IFT43 IFT52 IKBKG IQSEC2 IRF6 KANSL1 KAT6A KAT6B KCNK9 KCNMA1 KDF1 KDM6A KIAA0753 KMT2D KRAS KRT14 KRT71 LAMB3 LIMK1 LMBRD2 LONP1 LRP6 LTBP3 MAPK1 MAPK8IP3 MAPRE2 MBD5 MCOLN1 MED12 METTL27 MGAT2 MLXIPL MSX1 MYO7A NAA10 NCF1 NECTIN1 NECTIN4 NEK1 NFIX NFKBIA NHP2 NHS NMNAT1 NOP10 NPM1 NRAS OCRL ORC1 P4HB PACS2 PARN PAX9 PCGF2 PCNT PDGFRA PDZD7 PEX1 PEX6 PIGA PIGF PIGL PIK3C2A PIK3R1 PITX2 PKP1 PLEKHM1 PLXNA1 PLXND1 POLR1B POLR1C POLR1D PORCN PQBP1 PRIM1 PRKACA PRKACB PRKD1 PURA RAI1 RBBP8 RECQL4 REV3L RFC2 RHOA RIC1 RIN2 RMRP RNU12 RPS6KA3 RTEL1 RUSC2 SATB1 SATB2 SCNM1 SEC23A SH3BP2 SIX1 SLC25A24 SLC35A2 SMARCA2 SMARCAL1 SMARCD2 SMC3 SMOC1 SMOC2 SNRPN SOX9 SRCAP ST14 STX1A SUMO1 TBC1D24 TBL2 TCF12 TCIRG1 TCOF1 TERC TERT TFAP2A TGFA TINF2 TMCO1 TMEM231 TMEM270 TNFRSF11A TONSL TP63 TRAF6 TRPS1 TSPEAR TWIST2 TYMS UBE3B UBR1 USB1 USH2A VPS13B VPS37D VPS51 WDR19 WDR35 WDR4 WHRN WNT10A WNT10B WRAP53 ZEB2 ZNF141 HP_ABNORMALITY_OF_DENTAL_STRUCTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_STRUCTURE AARS1 ABL1 ACP4 ADGRV1 ADNP AGA AIRE AKT1 ALDH3A2 ALDOB ALMS1 ALPL AMBN AMELX AMTN ANAPC1 AP3B1 APC ARSB ARVCF ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRIP AXIN2 B3GALT6 BAZ1B BCL7B BMP1 BRF1 BUD23 C12orf57 CARS1 CAV1 CCDC134 CCDC8 CCN2 CCR6 CDH1 CDH11 CDH23 CDH3 CENPE CENPJ CEP152 CHD3 CIB2 CLCN7 CLDN1 CLDN19 CLEC7A CLIP2 CNNM4 COG6 COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL7A1 COMT COX4I2 COX7B CREBBP CRLF1 CRTAP CSTB CTBP1 CTC1 CTNND1 CTSK CUL7 CYP27B1 CYP2R1 DDX59 DEAF1 DHCR7 DIAPH1 DKC1 DLX3 DMP1 DNA2 DNAJC21 DNAJC30 DPH5 DSPP EDA EDAR EDARADD EFL1 EIF4H ELANE ELMO2 ELN ENAM ENPP1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ESPN FAM111A FAM20A FAM20C FAM83H FBXO28 FERMT1 FGF10 FGF23 FGF3 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FKBP6 FLII FLNA FLNB GALNS GALNT3 GATA1 GJA1 GLB1 GNAS GNB2 GP1BB GPR68 GREM2 GRHL2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HCCS HECTD4 HERC2 HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 HRAS IFIH1 IFITM5 IFT122 IFT43 IFT52 IKBKG IL17F IL17RA IL17RC IQSEC2 IRF5 IRF6 IRX5 ITGA6 ITGB4 ITGB6 JMJD1C KCNJ2 KCNJ5 KIF7 KLK4 KMT2D KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIFR LIMK1 LMNA LMX1B LONP1 LRP4 LRP6 LTBP3 MAGEL2 MAPRE2 MBTPS2 MED12 MEGF8 METTL27 MIA3 MKRN3 MLXIPL MMP1 MMP13 MMP20 MPLKIP MSX1 MYO7A NCF1 NDUFB11 NECTIN1 NECTIN4 NEK1 NF1 NHP2 NOP10 NPAP1 NPM1 NRAS NTRK1 NUP133 NUP85 OBSL1 OCRL ODAPH OFD1 ORAI1 P3H1 P4HB PAK2 PARN PAX1 PAX9 PCDH15 PCGF2 PCNT PDE4D PDZD7 PEPD PERP PEX1 PEX6 PGAP1 PGM2L1 PHEX PIK3C2A PIK3R1 PKP1 PLEC PLK4 POLR1B POLR1C POLR1D PORCN PPIB PPP1CB PPP1R15B PTCH1 PTCH2 PTDSS1 PTEN PWAR1 PWRN1 RAD21 RAI1 RBBP8 RBM28 RECQL4 RELT RFC2 RHOA RNF113A RNU12 ROGDI RREB1 RTEL1 RUNX2 SATB1 SBDS SCNM1 SCUBE3 SEC23A SEC24C SEC24D SERPINF1 SERPINH1 SFRP4 SGMS2 SHOC2 SLC10A7 SLC12A2 SLC13A5 SLC24A4 SLC29A3 SLC35A2 SLC37A4 SLF2 SMARCA2 SMARCD2 SMCHD1 SMOC2 SNORD115-1 SNORD116-1 SNRPB SNRPN SOX9 SP6 SP7 SPARC SRCAP SRP54 STIM1 STX16 STX1A SUFU SUMO1 TARS1 TBCE TBL2 TBX1 TCIRG1 TCOF1 TERC TERT TGFA TGFB1 THOC6 TINF2 TMEM165 TMEM270 TNFRSF11A TNFSF11 TP63 TRAF3IP2 TRAIP TRIM37 TRIP11 TRMT10A TRPS1 TRPV3 TSC1 TTC7A TYMS UBE3B UBR1 UFD1 UROD UROS USB1 USH1C USH1G USH2A VAC14 VDR VPS37D WDR19 WDR35 WDR72 WHRN WNT10A WNT10B WRAP53 ZMPSTE24 ZMYM2 ZNF469 HP_ABNORMALITY_OF_DERMAL_MELANOSOMES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES AP3B1 AP3D1 CACNA1F GPR143 LYST MYO5A RAB27A HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY AAGAB ABCB1 ABCB11 ABCB4 ABCC2 ABCD1 ABL1 ACADVL ACD ACOX2 ACTA2 ACTG2 ACVRL1 ADA2 ADAM17 ADAMTS2 ADAMTS3 ADAMTSL2 AGA AHI1 AIRE AK2 AKR1D1 AKT1 ALAD ALDH18A1 ALG1 ALG12 ALG3 ALG6 ALG8 ALG9 ALMS1 AMACR AMER1 ANTXR2 AP1B1 AP1S1 AP2S1 APC APC2 APOB AR ARF1 ARFGEF2 ARHGAP31 ARID1B ARL13B ARL3 ARL6 ARMC9 ARNT2 ARPC1B ARVCF ARX ASCC1 ASCL1 ASXL1 ASXL3 ATAD1 ATN1 ATP6V1E1 ATP7A ATP7B ATP8B1 ATRX AURKA AXIN2 B2M B3GLCT B9D1 B9D2 BACH2 BAP1 BAX BAZ1B BBS1 BCL10 BCL7B BCOR BCR BDNF BICRA BIN1 BLM BLNK BMPR1A BRAF BRCA1 BRCA2 BRD4 BRIP1 BTK BUB1 BUB1B BUB3 BUD23 C1R C1S C2CD3 C4A CACNA1C CALR CAMK2A CAMTA1 CAPN15 CARD11 CARD8 CARMIL2 CASP10 CASZ1 CAV1 CAVIN1 CBL CBLIF CBS CBY1 CC2D2A CCBE1 CCDC103 CCDC22 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCN2 CCND1 CCNO CCNQ CCR1 CCR6 CD19 CD3G CD55 CD79A CD79B CD81 CDC45 CDC73 CDCA7 CDH1 CDH11 CDK4 CDK8 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CENPF CEP104 CEP120 CEP290 CEP41 CEP57 CFAP221 CFAP298 CFAP300 CFAP45 CFAP74 CFC1 CFTR CHD4 CHD7 CHEK2 CHN1 CHRM3 CHRNG CHST14 CIITA CISD2 CLCA4 CLIP2 CLMP CLTRN COG6 COG8 COL14A1 COL18A1 COL1A1 COL3A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COMT COX4I2 COX7B CPLANE1 CPLX1 CPOX CR2 CREBBP CRKL CSPP1 CTBP1 CTC1 CTHRC1 CTLA4 CTNNB1 CTNND1 CTRC CXCR4 CYBA CYBB CYBC1 CYP7B1 DACT1 DCC DCDC2 DCHS1 DCLRE1B DCTN4 DDB1 DDX3X DDX59 DDX6 DEF6 DGAT1 DGUOK DHCR24 DHCR7 DHODH DICER1 DIS3L2 DISP1 DKC1 DLC1 DLEC1 DLK1 DLL1 DLL4 DMP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNM2 DNMT3B DOCK2 DOCK6 DOCK8 DOK7 DPYS DPYSL5 DRC1 DSE DSG1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L ECE1 EDN3 EDNRA EDNRB EFEMP2 EFL1 EFTUD2 EGFR EHMT1 EIF4H ELANE ELF4 ELN EMC1 ENG ENPP1 EOGT EP300 EPCAM ERAP1 ERBB2 ERBB3 ERCC2 ERCC4 ERMARD ESCO2 EWSR1 EXT1 EXT2 EXTL3 EYA1 F12 F13A1 F13B F5 FAH FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN2 FCGR2A FCHO1 FCN3 FERMT1 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKBP6 FKRP FKTN FLCN FLI1 FLNA FLNB FOCAD FOXC1 FOXE1 FOXF1 FOXH1 FOXJ1 FOXP3 FRAS1 FREM1 FREM2 FUZ G6PC3 GABRD GAS1 GAS2L2 GAS8 GATA1 GATA6 GBA1 GBE1 GCLC GDF2 GDF3 GDF6 GDNF GFRA1 GIMAP5 GLA GLI2 GLI3 GLIS3 GLMN GLRA1 GLRB GMPPA GMPPB GNA11 GNAS GNB2 GON7 GP1BB GPC3 GPC4 GPHN GPIHBP1 GPR35 GRB10 GREB1L GREM1 GRHL2 GRIP1 GSTM3 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C HABP2 HCCS HDAC4 HDAC8 HEATR3 HELLS HEPACAM HES7 HESX1 HFE HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMGA2 HMOX1 HNF1B HNRNPK HNRNPU HOXD13 HPGD HPS1 HRAS HSD3B7 HSPA9 HSPG2 HYDIN HYLS1 HYOU1 IARS1 ICOS IDS IFIH1 IFNGR1 IFT43 IFT74 IFT80 IGHG2 IGHM IGKC IGLL1 IKBKG IKZF1 IKZF3 IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12RB1 IL1B IL1RN IL21 IL23R IL2RA IL37 IL6 INAVA INPP5E INSR INTU IPO8 IRF1 IRF2BP2 IRF4 IRF5 IRGM ISL1 ITCH ITGA6 ITGA8 ITGB2 ITGB4 IVNS1ABP JAK1 JAK2 JAK3 JMJD1C KANSL1 KAT6A KAT6B KATNIP KCNAB2 KCNN4 KDM3B KDM6A KEAP1 KIAA0586 KIAA0753 KIF12 KIF21A KIF26A KIF3B KIF7 KIFBP KIT KITLG KLF6 KLLN KLRC4 KMT2C KMT2D KRAS KRT18 KYNU L1CAM LAGE3 LAMA3 LAMB3 LAMC2 LARGE1 LBR LBX1 LCT LEMD3 LETM1 LIG3 LIG4 LIMK1 LIPA LMBRD1 LMNA LMOD1 LMX1B LONP1 LPIN2 LRBA LRP2 LRPPRC LRRC56 LRRC8A LTBP1 LTBP4 LUZP1 LZTS1 MAD1L1 MAD2L2 MADD MAFB MALT1 MAMLD1 MAP1B MAP3K7 MAPK1 MASP2 MBD4 MBTPS2 MC1R MCC MCIDAS MCM6 MDM2 MED12 MEFV MEG3 MEN1 MEOX1 METTL27 MGMT MID1 MIF MINPP1 MIR17HG MITF MKKS MKS1 MLH1 MLH3 MLXIPL MMEL1 MMP1 MMP21 MMP23B MNX1 MPI MS4A1 MSH2 MSH3 MSH6 MSR1 MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTM1 MTMR14 MTOR MTRFR MTTP MUSK MUTYH MVK MYC MYCN MYD88 MYF6 MYH11 MYH3 MYLK MYO1H MYO5B MYOD1 MYRF NAA10 NBN NCF1 NCF2 NCF4 NDUFB11 NEDD4L NEFH NEK1 NEK10 NEK9 NEUROG3 NFIX NFKB1 NFKB2 NFKBIA NHP2 NIPBL NLRC4 NME5 NME8 NOD2 NODAL NOP10 NOTCH1 NOTCH2 NOTCH3 NPHP1 NPHP3 NPHS1 NPM1 NRAS NRTN NSD1 NSD2 NSUN2 NTHL1 NUP107 NUP133 NUP88 NXN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPLAH OSGEP OTC OTUD5 OTX2 PACS1 PAH PAICS PAK2 PALB2 PALLD PARN PAX3 PCSK1 PDE11A PDE6D PDGFRA PDGFRB PDGFRL PDPN PERCC1 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM3 PHGDH PHKA2 PHKG2 PHOX2B PI4KA PIBF1 PIEZO1 PIEZO2 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PITX2 PKD1 PKHD1 PKP1 PLA2G2A PLA2G4A PLCG2 PLCH1 PLEC PLG PLVAP PMM2 PMS1 PMS2 PNLIP POLA1 POLD1 POLE POLG POLR1B POLR1C POLR1D POMT1 POMT2 POR PORCN POT1 POU2AF1 PPOX PPP1R12A PPP2R3C PPP2R5D PQBP1 PRDM16 PRF1 PRKAR1A PRKCD PRKCZ PRMT7 PROKR2 PRSS1 PRSS2 PRTN3 PSPH PSTPIP1 PTCH1 PTDSS1 PTEN PTF1A PTPN12 PTPN22 PTPN3 PTPRJ PTRH2 PYCR1 RABL3 RAC2 RAD21 RAD51 RAD51C RAD54B RAPSN RARB RASGRP1 RBCK1 RBM10 RBM8A RBPJ RECQL4 REL RELA RERE RET RFC2 RFWD3 RFX5 RFX6 RFXANK RFXAP RHBDF2 RIPK1 RIPK4 RMRP RNF43 RNF6 RNU12 ROBO1 ROR2 RPGR RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTEL1 RTL1 RTTN RUNX1 RYR1 SAA1 SALL1 SALL4 SAMD9 SAR1B SATB1 SATB2 SBDS SDHA SDHB SDHC SDHD SEC23B SEC24C SEMA3C SEMA3D SEMA3E SEMA4A SEMA4D SERPINA1 SERPING1 SERPINH1 SETBP1 SETD2 SETD5 SF3B4 SGO1 SH2B1 SH3KBP1 SHH SHPK SI SIN3A SIX1 SIX3 SIX6 SKI SKIC2 SKIC3 SLC10A2 SLC11A1 SLC12A2 SLC18A3 SLC25A12 SLC25A24 SLC26A3 SLC26A9 SLC29A3 SLC2A10 SLC2A2 SLC30A10 SLC37A4 SLC39A4 SLC39A7 SLC46A1 SLC51B SLC5A1 SLC6A14 SLC6A19 SLC6A5 SLC6A8 SLC7A7 SLC9A3 SLCO2A1 SLX4 SMAD2 SMAD3 SMAD4 SMAD7 SMARCAL1 SMARCD1 SMC1A SMC3 SMO SNAI2 SNRPB SOCS1 SON SOX10 SOX2 SOX3 SPAG1 SPEF2 SPEN SPI1 SPIB SPINK1 SPINK5 SPINT2 SRC SRCAP SREBF1 SRP54 SRSF2 STAG2 STAT1 STAT3 STAT4 STAT5B STIL STK11 STK36 STN1 STRA6 STS STX11 STX1A STX3 STXBP1 STXBP2 SUFU SUZ12 SYK SYT2 TBC1D23 TBC1D7 TBCE TBL2 TBX1 TBX3 TBXT TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TEK TERC TERF2IP TERT TET2 TFAP2A TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC6 TINF2 TJP2 TLR2 TLR4 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TMPRSS6 TMTC3 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF12 TNFSF15 TNPO3 TNRC6B TNXB TOGARAM1 TOM1 TP53 TP53RK TP63 TPRKB TRAPPC11 TREH TREX1 TRIP13 TRMT5 TSR2 TTC12 TTC26 TTC7A TTR TUBA1A TWIST1 TWIST2 TWNK TYMP TYMS TYR UBA2 UBAC2 UBE2T UBE3B UBE4B UBR1 UFD1 UNC13D UNC45A UPB1 UROD UROS USB1 USF3 USP9X VAC14 VANGL1 VARS1 VPS35L VPS37D VPS51 VWF WAC WAS WASHC5 WBP11 WDR35 WDR4 WDR73 WFS1 WIPF1 WNT2B WNT3 WNT4 WNT7A WNT7B WNT9B WRAP53 WT1 WWOX XIAP XRCC2 XRCC4 XYLT2 YRDC YY1 ZAP70 ZBTB24 ZBTB7A ZEB2 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYND10 ZNF423 ZNF699 ZPR1 HP_ABNORMALITY_OF_DNA_REPAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DNA_REPAIR AARS1 CARS1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FANCA FANCC FANCD2 FANCE GTF2E2 GTF2H5 MPLKIP RNF113A TARS1 XPA XPC HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY ABCC8 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DIS3L2 EIF2AK3 FAH GCGR GCK GLUD1 GPC3 GPC4 HAMP HJV HNF1B HNF4A INS INSR KCNJ11 LBR MAFA MEN1 PAX4 PDX1 SLC16A1 STAT3 UCP2 VHL YY1 HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY ABCD1 ACTG2 AHI1 APC2 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASCL1 ATP7A ATRX B9D1 B9D2 BBS1 BCOR BDNF BRCA1 BRCA2 BRIP1 CBY1 CC2D2A CCDC28B CEP104 CEP120 CEP290 CEP41 COMT CPLANE1 CSPP1 DDX3X DDX59 DHCR7 ECE1 EDN3 EDNRB ERBB2 ERBB3 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXF1 GATA1 GDNF GP1BB HIRA HYLS1 IFT74 INPP5E JMJD1C KATNIP KIAA0586 KIAA0753 KIFBP KIT KITLG KRAS L1CAM LBX1 MAD2L2 MBTPS2 MITF MKKS MKS1 MYO1H NAA10 NPHP1 NRTN NSD1 OFD1 PALB2 PAX3 PDE6D PGAP2 PGAP3 PHOX2B PIBF1 PIGL PIGN PIGO PIGV PIGW PIGY RAD51 RAD51C RET RFWD3 RMRP RPGRIP1L RREB1 SALL4 SEC24C SEMA3C SEMA3D SETBP1 SETD2 SF3B4 SH2B1 SLC6A8 SLX4 SMO SNAI2 SOX10 SREBF1 SUFU TBX1 TCF4 TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TTR TUBA1A TYR UBE2T UFD1 XRCC2 ZEB2 ZNF423 HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY ABCC8 APPL1 ARX ATP6AP1 BLK BRCA1 BRCA2 CCDC47 CDKN2A CEACAM3 CEACAM6 CEL CFTR CLCA4 CNOT1 COX4I2 CTNS CTRC DCTN4 DNAJC21 EDNRA EFL1 EIF2AK3 FCGR2A FOCAD GATA6 GCK GCLC GSTM3 HFE HMOX1 HNF1A HNF1B HNF4A INS JAG1 KCNJ11 KCNN4 KLF11 KRAS MADD MIF NEUROD1 NSD2 OFD1 PALB2 PALLD PAX4 PDX1 PRIM1 PRSS1 PRSS2 PTF1A PTRH2 PUF60 RABL3 SBDS SCNN1A SCNN1B SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SMAD4 SPINK1 SRP54 STAT3 STX1A TGFB1 TP53 TRMT5 UBR1 YARS1 HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION ABCA7 ACAT1 ACD ACTA1 ADAR ADGRV1 ADH1C AFG3L2 ALG13 ALS2 AOPEP AP5Z1 APOE APP ARHGEF9 ASNS ATL1 ATN1 ATP13A2 ATP1A3 ATP2B3 ATP5MK ATP6AP2 ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS BAP1 BAZ1B BCL7B BOLA3 BRAT1 BUD23 C19orf12 C9orf72 CACNA1I CAMK2B CAT CDK4 CDKN2A CDKN2B CHCHD10 CHCHD2 CHMP2B CLIP2 CLN3 CLN6 CLPB CLTC COASY COQ2 CP CSF1R CTC1 CTSF CYP27A1 DCAF17 DCTN1 DDB2 DDC DENND5A DHDDS DNAJC12 DNAJC13 DNAJC30 DNAJC5 DNAJC6 DPYS EARS2 EIF2AK1 EIF2AK2 EIF4G1 EIF4H ELN ERCC2 ERCC3 ERCC4 ERCC5 ETHE1 FA2H FARS2 FBXO7 FGF13 FKBP6 FKTN FLRT1 FMR1 FTL FUS GABRA1 GABRD GABRG2 GAMT GBA1 GBE1 GCH1 GIGYF2 GLB1 GLRA1 GLRB GLUD2 GM2A GPHN GRIA4 GRN GTF2I GTF2IRD1 GTF2IRD2 HCN1 HEXA HEXB HIKESHI HLA-DQB1 HPRT1 HTRA1 HTRA2 HTT IFIH1 IMPDH2 JAM2 JPH3 KBTBD13 KCNC3 KCNN2 KIF5A KLC2 KLHL41 L2HGDH LIMK1 LIPT1 LRRK2 LSM11 LYST MAPT MC1R MECP2 MED11 METTL27 MGMT MICU1 MINPP1 MITF MLXIPL MMACHC MPO MT-TT MTHFS MYORG MYPN NAGA NCF1 NDUFS7 NEB NFU1 NOS3 NOTCH3 NR4A2 OPA3 PANK2 PARK7 PCBD1 PCDH19 PDE10A PDE8B PDGFB PDGFRB PET117 PIDD1 PINK1 PLA2G6 PLAA PLAU PLP1 PODXL POLG POLG2 POT1 PPP2R2B PRDX1 PRDX3 PRKAR1B PRKN PRKRA PRNP PSAP PSEN1 PSEN2 PTS PURA RAB39B RARS1 RBM10 RFC2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RRM2B SAMD9L SAMHD1 SCN1A SCN1B SCN2A SCN9A SERAC1 SERPINI1 SIGMAR1 SLC16A2 SLC18A2 SLC20A2 SLC25A4 SLC2A1 SLC2A3 SLC30A10 SLC39A14 SLC6A3 SLC6A5 SLC6A9 SNCA SNCAIP SNCB SNORD118 SOD1 SORL1 SPG11 SPG21 SPR SPTLC1 SQSTM1 STUB1 STX1A STX1B SYNE1 SYNJ1 SYT1 TACO1 TAF1 TANGO2 TARDBP TBC1D24 TBK1 TBL2 TBP TENM4 TERF2IP TERT TH TK2 TMEM106B TMEM240 TMEM270 TNIK TNR TOMM40 TPM2 TPM3 TRAK1 TREM2 TREX1 TRPM7 TSEN2 TSEN54 TSPOAP1 TSPYL1 TTC19 TWNK UBAP1 UBTF UCHL1 UQCRC1 UQCRQ VCP VPS13A VPS13C VPS35 VPS37D WARS2 WDR45 WDR73 XPA XPC XPR1 ZFYVE26 ZMYM2 ZNF592 HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE CIDEC ERCC6 ERCC8 KCNJ6 LMNA LMNB2 POLR3A PPARG PSMB8 ZMPSTE24 HP_ABNORMALITY_OF_FACIAL_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE ABCA1 ABCD1 ACADS ACTA1 ACTN2 ADA2 ADCY5 ADCY6 ADGRG1 ADNP ADSS1 AGRN AK9 AKT1 ALG14 ALG2 ALS2 AMER1 AMPD2 ANKH ANO5 ANTXR1 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ASAH1 ASXL1 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATXN1 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CACNA1A CACNA1S CADM3 CAMK2G CAPN3 CC2D1A CFL2 CHAMP1 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCF1 CLCN7 CLTC CNBP CNTNAP1 COL12A1 COL13A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ COX6A2 CRLF1 CRPPA CRYAB DBH DCTN1 DDHD2 DES DLL4 DMPK DNAJB6 DNAJC13 DNAJC6 DNM1L DNM2 DNMT3B DOK7 DPAGT1 DSE DYNC1H1 EBF3 EIF4G1 EYA1 FBXO7 FKRP FKTN FLNC FRG1 FTL GAA GAN GBA1 GDAP1 GFPT1 GIGYF2 GIPC1 GJA1 GJC2 GLE1 GMPPB GNE GPC3 GPC4 GRIA3 GSN HACD1 HERC1 HK1 HLA-DRB1 HOXB1 IRF2BPL IRF6 ITGA7 ITGB4 JAG2 JAM2 KBTBD13 KCNK4 KCNK9 KDM4B KDM5C KIF1B KLHL40 KLHL41 KMT2D KY LAMA2 LAMB2 LARGE1 LGI3 LMOD3 LPIN1 LRIF1 LRP12 LRP4 LRP5 LRRK2 MAN2B1 MAP3K20 MB MECP2 MEGF10 MGME1 MPZ MSTO1 MSX1 MT-CO1 MT-CO3 MT-TE MT-TN MT-TS1 MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL1 MYL2 MYMK MYMX MYO9A MYOT MYPN NARS2 NEB NECTIN1 NEFL NF2 NFU1 NGLY1 NOD2 NOTCH2NLC NUTM2B-AS1 OBSCN OGDHL OPA1 OSTM1 PABPN1 PAX7 PCGF2 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLA2G6 PLAA PLEC PLXND1 PNPT1 PODXL POGZ POLG POLG2 POMT1 POMT2 POU3F3 PPP2R1A PPP2R2B PPP2R5D PRDX3 PRKCG PRRT2 PTDSS1 PTRH2 PUF60 PURA RAB11B RAPSN REV3L RILPL1 RNASEH1 RRM2B RYR1 RYR3 SALL4 SATB2 SBF2 SCN1A SCN4A SCO2 SELENON SEMA3E SET SF3B2 SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A2 SLC18A3 SLC19A3 SLC1A3 SLC25A1 SLC25A21 SLC25A4 SLC25A42 SLC30A10 SLC30A9 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SLC6A3 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNCA SNX10 SOST SPEG SPR SPTBN2 SPTBN4 SQSTM1 SRPX2 STAC3 STAG2 STRADA SUCLA2 SUFU SUPT16H SURF1 SYNE1 SYNJ1 SYT2 TCIRG1 TECPR2 TERT TET3 TFAP2A TGFB1 TK2 TNFSF11 TNNC2 TNNT1 TOR1A TP63 TPM2 TPM3 TRAF7 TREX1 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK TXNL4A UBA1 UBA2 UBE2T UNC80 VAMP1 VCP VPS13B VPS35 XRCC2 XYLT2 YARS1 YME1L1 YY1 ZBTB11 ZC4H2 ZFHX4 ZMIZ1 HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE ABCA1 ABCD1 ACADS ACTA1 ACTB ACTG1 ACTN2 ACTN4 ADA2 ADAMTS2 ADCY5 ADCY6 ADGRG1 ADNP ADSS1 AGRN AIP AK9 AKT1 ALB ALG14 ALG2 ALS2 AMER1 AMPD2 ANAPC1 ANGPT1 ANKFY1 ANKH ANLN ANO5 ANTXR1 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 APOL1 ARHGAP24 ARHGDIA ASAH1 ASXL1 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATXN1 BAG3 BAP1 BAZ1B BCL7B BICRA BIN1 BMS1 BTNL2 BUD23 CACNA1A CACNA1S CADM3 CAMK2G CAMTA1 CAPN3 CC2D1A CCBE1 CCDC22 CD2AP CD96 CDH11 CFL2 CHAMP1 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CIDEC CLCF1 CLCN7 CLIP2 CLTC CNBP CNTNAP1 COL12A1 COL13A1 COL1A1 COL25A1 COL4A1 COL4A3 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COQ8B COX6A2 CRB2 CRLF1 CRPPA CRYAB CTLA4 DAAM2 DBH DCTN1 DDHD2 DES DHCR7 DHX30 DLL4 DMPK DNAJB6 DNAJC13 DNAJC30 DNAJC6 DNM1L DNM2 DNMT3B DOK7 DPAGT1 DPYSL5 DSE DUOX2 DUOXA2 DUX4 DUX4L1 DYNC1H1 EBF3 EIF4G1 EIF4H ELN EMP2 EPHB4 ERCC6 ERCC8 ESCO2 EYA1 F12 FBXO7 FKBP6 FKRP FKTN FLNC FOXG1 FRG1 FRMD4A FTL GAA GAN GAPVD1 GBA1 GDAP1 GFPT1 GIGYF2 GIPC1 GJA1 GJC2 GLE1 GLI3 GMPPB GNA14 GNAQ GNE GNPTAB GPC3 GPC4 GPR101 GRIA3 GSN GTF2I GTF2IRD1 GTF2IRD2 HACD1 HAVCR2 HERC1 HESX1 HK1 HLA-DPA1 HLA-DPB1 HLA-DRB1 HOXB1 HRAS HS3ST6 IFNG IGSF3 INF2 IRF2BPL IRF6 ITGA7 ITGB4 IYD JAG2 JAM2 KAT6A KBTBD13 KCNJ6 KCNK4 KCNK9 KCTD1 KDM4B KDM5C KIF1A KIF1B KLHL40 KLHL41 KLLN KMT2D KNG1 KNSTRN KPTN KRAS KRT17 KY LAMA2 LAMB2 LARGE1 LGI3 LHX3 LHX4 LIMK1 LMNA LMNB2 LMOD3 LPIN1 LRIF1 LRP12 LRP4 LRP5 LRRK2 LTBP4 MAGI2 MAN2B1 MAP3K20 MB MECP2 MED12L MEGF10 MEN1 METTL27 MGAT2 MGME1 MLH1 MLXIPL MPZ MSH2 MSH6 MSTO1 MSX1 MT-CO1 MT-CO3 MT-TE MT-TN MT-TS1 MTM1 MTMR14 MTMR2 MTRFR MUSK MYD88 MYH7 MYL1 MYL2 MYMK MYMX MYO1E MYO9A MYOF MYOT MYPN NARS2 NCF1 NEB NECTIN1 NEFL NEU1 NF2 NFU1 NGLY1 NLRP1 NOD2 NOTCH2NLC NPHS1 NPHS2 NRAS NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 NUTM2B-AS1 OBSCN OGDHL OPA1 OSTM1 PABPN1 PAX2 PAX7 PCGF2 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIEZO1 PIK3CA PIK3CD PLA2G6 PLAA PLCD1 PLCE1 PLEC PLG PLXND1 PNPT1 PODXL POGZ POLG POLG2 POLR3A POMP POMT1 POMT2 POR POU1F1 POU3F3 POU4F1 PPARG PPP1CB PPP2R1A PPP2R2B PPP2R5D PRDX3 PRKCG PROP1 PRRT2 PRTN3 PSMB4 PSMB8 PSMB9 PSPH PTDSS1 PTEN PTPN22 PTPRO PTRH2 PUF60 PURA RAB11B RAPSN RASA1 RBM8A RECQL4 REV3L RFC2 RILPL1 RIN2 RNASEH1 RRM2B RYR1 RYR3 SALL4 SATB2 SBF2 SCN1A SCN4A SCO2 SDHB SDHC SDHD SEC23B SELENON SEMA3E SERPING1 SET SETBP1 SF3B2 SGCD SH3TC2 SHANK3 SHMT2 SIX1 SIX5 SLC12A6 SLC18A2 SLC18A3 SLC19A3 SLC1A3 SLC25A1 SLC25A21 SLC25A4 SLC25A42 SLC26A2 SLC29A3 SLC30A10 SLC30A9 SLC35C1 SLC39A14 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A3 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNCA SNX10 SNX14 SOST SOX18 SPEG SPR SPTBN1 SPTBN2 SPTBN4 SQSTM1 SRD5A3 SRPX2 STAC3 STAG2 STRADA STX1A SUCLA2 SUFU SUMF1 SUPT16H SURF1 SYNE1 SYNJ1 SYT2 TBC1D8B TBL2 TCIRG1 TECPR2 TERT TET3 TFAP2A TG TGFB1 TGFBI TK2 TMEM270 TNFRSF1A TNFSF11 TNNC2 TNNT1 TOR1A TP63 TPM2 TPM3 TPO TPP2 TRAF7 TREX1 TRIM32 TRPC6 TRPM3 TRPV4 TSC1 TSC2 TSHB TTN TUBB3 TUBB6 TWNK TXNL4A UBA1 UBA2 UBE2T UNC80 USF3 VAMP1 VCP VPS13B VPS35 VPS35L VPS37D WASHC5 WT1 XPNPEP2 XRCC2 XYLT2 YARS1 YME1L1 YY1 ZBTB11 ZC4H2 ZFHX4 ZMIZ1 ZMPSTE24 ZNHIT3 HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA ACTB AGPAT2 AR ARID1B ATIC ATR B3GLCT BRD4 BSCL2 CASZ1 CAV1 CAVIN1 CBX2 CCNQ CD96 CDC45 CDC6 CDT1 CEP152 CHD7 CHRNG COX7B CTCF CXCR4 CYP11A1 CYP11B1 CYP19A1 DHCR24 DHCR7 DHH DHX37 DMRT3 DVL1 DVL3 ECEL1 ESCO2 ESR2 FDXR FGFR2 FIG4 FOS FRAS1 FREM2 FZD2 GABRD GAD1 GATA4 GMNN GRIP1 HCCS HDAC8 HERC2 HNRNPR HSD3B2 HSPG2 HYMAI INSR IRF6 ISL1 KAT6B KCNAB2 LIG4 LIPE LMNA LUZP1 MAGEL2 MAP3K1 MED25 MINPP1 MKRN3 MKS1 MMP23B MOGS MYH3 NDN NDUFB11 NIPBL NPAP1 NR0B1 NR3C1 NR5A1 NSUN2 NXN OCA2 ORC1 ORC4 ORC6 PCNT PDE4D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PLAGL1 PMM2 POC1A POR PORCN PPARG PPP1R12A PPP2R3C PRDM16 PRKAR1A PRKCZ PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RERE RIPK4 ROR2 RSPO1 SEMA3E SETBP1 SIM1 SKI SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN SOX9 SPECC1L SPEN SRY TALDO1 TBC1D20 TBX15 TNXB TOE1 TP63 TRAIP TWIST2 UBE3B UBE4B UBR1 VAC14 VAMP7 WNT5A WT1 WWOX ZFPM2 HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY ABCC9 ACAN ACTB ACVR1 ADAMTS2 ADAMTSL2 AFF3 AGPS AIFM1 ALG12 AMMECR1 ANKH ARCN1 ARID1B ARSL ATP6V0A2 ATP7A ATRX B3GALT6 B4GALT7 BCR BGN BHLHA9 BICD2 BMP1 BMPR1B BRCA1 BRCA2 BRF1 BRIP1 CAMK2A CANT1 CBFB CCDC47 CCN6 CDC6 CFAP410 CHD4 CHD7 CHEK2 CHST3 CLCN5 CLCN7 COG1 COG4 COG8 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL27A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CREBBP CRKL CRTAP CSF1R CSGALNACT1 CSPP1 CTC1 CYP27A1 CYP27B1 CYP2R1 DDRGK1 DLK1 DMP1 DNAJC21 DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 EED EFL1 EIF2AK3 ENPP1 EP300 ERCC4 ERCC6 EXOC6B EXT1 EXT2 EXTL3 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGFR2 FGFR3 FIBP FKBP10 FLNA FLNB FN1 FUCA1 FZD2 GALNS GBA1 GDF5 GJA1 GJB2 GJB6 GLA GLB1 GLI3 GNAS GNPTAB GNPTG GORAB GPC6 GTF2E2 HDAC4 HESX1 HNRNPH1 HNRNPK HNRNPR HS2ST1 HSPA9 HSPG2 IARS2 IDUA IFIH1 IFNGR1 IFT140 IHH INPP5K IYD KCNJ8 KDELR2 KIAA0586 KIF22 KIFBP LAMA5 LBR LEMD2 LEMD3 LHX3 LHX4 LIFR LMNA LMX1B LRP5 LTBP3 LYSET MAD2L2 MADD MAN2B1 MAPK1 MATN3 MBTPS1 MEG3 MEGF8 MGAT2 MMP13 MMP9 MTHFS MTX2 NANS NEK8 NEK9 NEPRO NFIX NGLY1 NKX3-2 NRCAM ORC1 ORC6 OTUD5 P3H1 PALB2 PAM16 PCNT PCYT1A PDE4D PEX5 PHEX PI4KA PIK3C2A PLEKHM1 PLOD2 PLOD3 POC1A POLR1A POLR3A POP1 POR POU1F1 PRG4 PRKG2 PROP1 PSAP PTH1R PUF60 RAB23 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RASA1 RB1 RBM8A RET RFWD3 RINT1 RMRP RNU4ATAC RPL13 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL4 SBDS SCARF2 SEMA3E SERPINF1 SERPINH1 SETBP1 SGMS2 SHOX SIL1 SKIC3 SLC10A7 SLC12A2 SLC26A2 SLC2A10 SLC31A1 SLC34A3 SLC35A2 SLC35B2 SLC39A13 SLC5A5 SLX4 SMARCAL1 SOX9 SRCAP SRP54 STXBP1 SUCLG1 TAPT1 TBX15 TBX4 TBXAS1 TCIRG1 TENT5A TG TGDS TGFB1 TGFB3 TINF2 TMEM38B TMEM53 TMEM67 TNFRSF11A TNFRSF11B TONSL TP53 TPO TRAF3IP1 TRAPPC2 TREX1 TRIP11 TRPS1 TRPV4 TRPV6 TSHB TSHR UBE2T UBE3C UFC1 UFSP2 UNC45A VDR WNT5A WNT7A XRCC2 XYLT1 XYLT2 ZMPSTE24 HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY AFF3 AFF4 AMER1 ATP7A ATR BGN BHLHA9 BMPR1B CANT1 CCDC47 CEP120 CILK1 CLCN5 COG4 COL11A1 COL11A2 COL2A1 CPLANE1 CYP27B1 CYP2R1 DDR2 DDRGK1 DYNC2H1 EIF4A3 EXT1 EXT2 FGFR2 FGFR3 FLNA FLNB FZD2 GDF5 GLI3 GPC6 GPX4 IFT122 IHH INPPL1 INTU LMBR1 MET MTX2 NANS NOTCH2 PAPPA2 PHEX POR PTH1R RBM8A SERPINH1 SF3B4 SHH SHOX SLC34A3 SLC35D1 SMOC1 SOX9 TAPT1 TBX15 VDR WNT7A HP_ABNORMALITY_OF_FLUID_REGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FLUID_REGULATION ABCA12 ABCA3 ABCC6 ABCC8 ABCC9 ACAD8 ACAD9 ACADM ACAT1 ACP5 ACSF3 ACTA1 ACTB ACTC1 ACTG1 ACTN4 ADA ADA2 ADAMTS2 ADAMTS3 ADARB1 AGBL1 AGGF1 AGR2 AGXT AHCY AIP AK2 AKT1 ALB ALG1 ALG12 ALG14 ALG8 ALG9 ALOX12B ALOXE3 ALPK3 ANAPC1 ANGPT1 ANGPT2 ANKFY1 ANKH ANKRD55 ANLN ANTXR1 ANTXR2 AP1S3 APC2 APOA1 APOE APOL1 AQP2 ARHGAP24 ARHGDIA ARHGEF18 ARL3 ARSL ASAH1 ASL ASPRV1 ASS1 ATN1 ATP1A2 ATP1A3 ATP6V0A4 ATP7B ATRX AVPR2 B2M B4GALT1 BAP1 BAZ1B BCKDHA BCKDHB BCL2 BCL6 BCL7B BLNK BLTP1 BMP2 BMP6 BMPER BMPR1A BRAF BRD4 BSND BTNL2 BUB1 BUB1B BUB3 BUD23 C1QBP C4A CA12 CACNA1A CALCRL CAMTA1 CARS2 CASP10 CAV1 CBL CCBE1 CCDC88A CCN6 CCND1 CCR1 CD244 CD247 CD28 CD2AP CD46 CD55 CD79A CD79B CDAN1 CDC42 CDH11 CDH23 CDK5 CDKN1A CDKN1B CDKN2B CDKN2C CELSR1 CEP57 CFH CFI CFTR CHD7 CHEK2 CHRNA1 CHRND CHRNG CIITA CITED2 CLCNKA CLCNKB CLIP2 CLMP CLPB COG6 COL11A1 COL1A1 COL1A2 COL2A1 COL4A3 COL5A1 COL5A2 COL8A2 COQ8B COX16 CPN1 CPS1 CPSF3 CPT2 CRB2 CRLS1 CSGALNACT1 CTLA4 CTNNB1 CTNS CTRC CTSA CYBB CYBC1 CYC1 CYP11A1 CYP11B2 CYP24A1 CYP4F22 CYP4V2 DAAM2 DBH DBT DCHS1 DCLRE1C DDR2 DEF6 DHCR7 DHDDS DHPS DHX30 DIS3L2 DNAJC30 DNASE1L3 DNMT1 DNMT3B DOHH DOK7 DPAGT1 DSP DUOX2 DUOXA2 DUX4 DUX4L1 DYNC2H1 DYNC2I1 DYNC2I2 DYSF EBP EGFR EHHADH EIF2AK3 EIF2AK4 EIF4H ELN EMP2 ENG ENPP1 EPB41 EPCAM EPHB4 ERAP1 ERBB3 ERCC5 ERCC6 F12 F8 FARSB FAS FASLG FAT4 FCGR2A FECH FGA FGB FGFR3 FGG FIBP FIG4 FKBP6 FLNB FLNC FLT4 FN1 FOCAD FOXC2 FOXF1 FOXG1 FRG1 FRMD4A FSHR FZD4 GAA GAPVD1 GATA1 GATA2 GATA4 GATA6 GATB GATC GATM GBA1 GBE1 GCK GJC2 GLA GLB1 GLE1 GNAQ GNB2 GNPTAB GPC6 GPR101 GPR35 GRHL2 GRIP1 GSN GTF2I GTF2IRD1 GTF2IRD2 GUSB GYPC HADHA HAVCR2 HBA1 HBA2 HDAC8 HEATR3 HELLPAR HESX1 HFE HGD HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGCL HNRNPK HPGD HRAS HS3ST6 HSD3B2 HSPG2 HYMAI IDH3A IFIH1 IFNGR1 IFT140 IFT80 IGHM IGLL1 IGSF3 IKBKG IL10 IL12A IL12A-AS1 IL1RN IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL7R INF2 INPPL1 INS IRAK1 IRF4 ITK IVD IYD JAG1 KAT6A KCNJ1 KCNJ11 KCNN4 KCNQ2 KCTD1 KIAA0586 KIAA1549 KIF11 KIF1A KIF20A KIF7 KIT KLF1 KLHL40 KLHL41 KLHL7 KLRC4 KNG1 KNSTRN KPTN KRAS KRT13 KRT2 LACC1 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LARS2 LBR LCT LHX3 LHX4 LIAS LIG4 LIMK1 LIPN LMOD3 LPIN2 LRP5 LRPPRC LRRC8A LTBP4 LYST LYZ LZTR1 MAGEL2 MAGI2 MAP2K1 MAP2K2 MAPK1 MAPRE2 MCEE MCM10 MDFIC MECOM MED12L MEFV MEN1 METTL27 MFRP MGAT2 MIF MKKS MLXIPL MMAA MMAB MMACHC MMUT MOGS MPI MRAS MRPS16 MRPS22 MRPS28 MST1 MT-CYB MTO1 MUSK MVK MYBPC3 MYD88 MYH6 MYL11 MYLK MYO1E MYO5B MYOF MYPN NAA10 NAGA NARS2 NAXD NAXE NCF1 NDN NDP NDUFAF6 NDUFB10 NDUFS4 NEB NEK1 NEK9 NEU1 NEUROG3 NFKBIA NFKBIL1 NIPAL4 NIPBL NKX2-5 NKX2-6 NLRP3 NOD2 NOS1AP NOS3 NPHS1 NPHS2 NR0B1 NR1H4 NR2E3 NR3C1 NR3C2 NRAS NRL NSD1 NSF NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCA2 OCRL ODC1 OSGEP OTC OTULIN OVOL2 PAX2 PBX1 PCCA PCCB PDE6G PDGFRB PDSS2 PDX1 PERCC1 PEX2 PEX5 PHGDH PIEZO1 PIGA PIGN PIK3CA PIK3CD PIK3R1 PKHD1 PKLR PLAA PLAGL1 PLCE1 PLCG2 PLD1 PLG PLVAP PLXND1 PMM2 POLG POLG2 POMGNT1 POMP POU1F1 POU4F1 PPP3CA PRF1 PRKAG2 PRKAR1A PRKCD PROP1 PRPF31 PRPF8 PRPH2 PRRT2 PRSS1 PRSS2 PRTN3 PSAT1 PSMB4 PSMB9 PSMG2 PSPH PTEN PTH1R PTPN11 PTPN14 PTPN2 PTPN22 PTPRO QRSL1 RAD21 RAF1 RAG1 RAG2 RANBP2 RASA1 RASA2 RASGRP1 RB1 RBM8A RDH5 RECQL4 REEP6 RELN RFC2 RHD RHO RIN2 RIT1 RLBP1 RMRP RNF13 RNU7-1 RP1L1 RP9 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RRM2B RYR1 SAT1 SCARB2 SCN1A SCN4A SCN5A SCNN1A SCNN1B SCNN1G SDR9C7 SEMA4D SERPING1 SETD2 SFTPB SFTPC SGPL1 SHANK3 SLC12A1 SLC17A5 SLC1A3 SLC22A4 SLC22A5 SLC25A13 SLC25A4 SLC26A2 SLC26A3 SLC29A3 SLC34A1 SLC34A2 SLC35C1 SLC35D1 SLC39A7 SLC4A1 SLC4A11 SLC5A1 SLC5A2 SLC5A5 SLCO2A1 SMAD4 SMC1A SMC3 SMCHD1 SMS SNRPN SNX14 SOS1 SOS2 SOX18 SPG11 SPI1 SPINK1 SPINK5 SPP1 SPRED2 SPTA1 SPTB SPTBN1 STAG1 STAT3 STAT4 STX11 STX1A STX3 SULT2B1 SUMF1 SYK TALDO1 TAPT1 TBC1D8B TBK1 TBL2 TBX20 TCF3 TCF4 TEK TG TGFB1 TGFBI TGM1 THSD1 TICAM1 TIE1 TLL1 TLR3 TLR4 TMEM260 TMEM270 TMPRSS15 TNFRSF11B TNFRSF1A TNFRSF1B TNNI3 TNNT2 TP53 TPO TPRKB TRAF3 TRAPPC2 TREX1 TRIM37 TRIP11 TRIP13 TRPC6 TSC1 TSC2 TSHB TSHR TSPAN12 TSR2 TTC26 TTR TUBB TWNK TXNDC15 UBAC2 UBR1 UNC45A UNC93B1 UROD UROS USB1 USP18 USP48 USP8 VAC14 VEGFC VHL VPS33B VPS37D VPS51 VSX1 WDR35 WNT7A WT1 XPNPEP2 XYLT2 ZEB1 ZFP57 ZNF408 ZNFX1 ZNHIT3 HP_ABNORMALITY_OF_FOLATE_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOLATE_METABOLISM AMN CUBN DHFR FTCD HLA-DQA1 HLA-DQB1 OTUD5 PNPLA8 SLC46A1 SPTBN1 TCN2 ZNF699 HP_ABNORMALITY_OF_FONTANELLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FONTANELLES ACE ACTA1 ACTB ACTG1 ADAMTS2 AGT AGTR1 ALDH18A1 ALG1 ALG8 ALG9 ALPL AMER1 ANKRD11 ANTXR1 ARX ASPA ASXL3 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRX B3GLCT BANF1 BMPER CAV1 CBFB CCDC22 CDC45 CDH11 CDKN1C CHST14 CHUK CLCN3 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP CTSD CTSK CYP27B1 CYP2R1 DCHS1 DDR2 DDX3X DICER1 DLK1 DPYSL5 DSE DUOX2 DUOXA2 DVL1 EBP EFEMP2 EP300 ERCC1 ETFA ETFB ETFDH FAM111A FAM20C FAT4 FBLN5 FGFR2 FGFR3 FIG4 FLNA FOXE1 GH1 GJA1 GLI3 GLIS3 GNPAT GNPTAB GPX4 GRB10 H19 HDAC4 HESX1 HNF1B HOXD13 HPGD HRAS HSD17B4 HYMAI IFT140 IGF2 INPPL1 INTU IYD KCNQ1 KCNQ1OT1 KIF7 KLF1 KLHL40 KLHL41 LHX1 LHX3 LHX4 LIG4 LMNA LMOD3 LRP2 LTBP1 LTBP4 MAF MASP1 MED12 MEG3 MID1 MMP2 MPDU1 MSX2 MTOR MVK MYCN NAA10 NCAPG2 NDE1 NDUFAF3 NEB NEPRO NFASC NKX2-1 NKX2-5 NLRP3 NPHP3 NSMCE3 NSUN2 ORC1 P3H1 PAM16 PAX8 PCGF2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGA PIGQ PLAGL1 POLR3A POR POU1F1 PPP2R5D PROP1 PTDSS1 PYCR1 RBM10 RECQL4 REN RNU12 RNU4ATAC ROR2 RPS6KA3 RTL1 RUNX2 SEC23A SETBP1 SH3PXD2B SHPK SIX2 SKI SLC25A19 SLC25A24 SLC26A4 SLC34A3 SLC5A5 SMC3 SMG9 SOX9 SPTBN1 TALDO1 TBCE TG TPO TSHB TSHR TWIST1 UBR1 USP7 VARS1 VDR VPS35L WNT5A WT1 ZIC1 ZMPSTE24 ZSWIM6 HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION APOE CFHR1 CFHR3 CTNNA1 HMCN1 IMPG1 RAB28 SLC38A8 HP_ABNORMALITY_OF_FRONTAL_SINUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FRONTAL_SINUS AGA ALX1 ALX3 ATRX COL11A1 CTSK DNAI1 FLNA KCNJ2 MPDU1 NOTCH2 RUNX2 SFRP4 SIX2 TRIM37 HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION AIPL1 APC ARL6 BLOC1S6 CACNA1F CAPN5 CFAP418 CFH CFI CHM CLRN1 CNGA1 COL4A1 CRX EDNRB EFEMP1 EPG5 GGCX GPR143 GUCA1A GUCY2D IFNG KIF7 LAMB2 LRAT MC1R MITF MTTP MUTYH OCA2 PAX3 PDE6G POU3F4 PRPH2 RBP3 RDH5 RHO RLBP1 ROM1 SLC25A15 SLC45A2 SOX10 TSC1 TSC2 TYR HP_ABNORMALITY_OF_GLOBE_LOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLOBE_LOCATION AARS1 AASS ABCA12 ABCC9 ABCD4 ABL1 ACBD5 ACOX1 ACTA1 ACTA2 ACTB ACTG1 ACTL6B ACY1 ADA2 ADAMTS10 ADAMTS3 ADAT3 ADGRG6 ADK ADNP AFF3 AFF4 AGA AGL AGO2 AHDC1 AIFM1 AKT1 AKT3 ALDH18A1 ALDH6A1 ALG1 ALG13 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALPL ALX1 ALX3 ALX4 AMER1 ANAPC7 ANK1 ANKH ANKRD11 ANKRD17 ANTXR1 AP1G1 AP1S2 AP3B2 AP3D1 AP4S1 APC ARCN1 ARID1B ARNT2 ARVCF ASH1L ASNS ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATN1 ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX ATXN3 AUTS2 AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BANF1 BAP1 BBS7 BCAS3 BCL11B BCORL1 BCR BGN BICRA BLNK BLTP1 BMP2 BMPER BMPR1A BNC2 BPNT2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRIP1 BRPF1 BUB1B C12orf57 CACNA1C CACNA1G CAMK2A CAMK2B CAMTA1 CANT1 CARS1 CASK CASZ1 CBL CC2D2A CCBE1 CCDC22 CCDC32 CCDC47 CCND2 CCNK CD79A CD79B CDC42 CDC42BPB CDC45 CDCA7 CDH1 CDH11 CDH2 CDK10 CDK13 CDK19 CDK5RAP2 CDKL5 CDKN1C CDON CENPF CENPJ CEP120 CEP290 CEP57 CHD3 CHD4 CHD7 CHD8 CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CILK1 CIT CITED2 CKAP2L CLCN3 CLCN6 CLCN7 CLP1 CNOT1 CNOT3 CNTN1 CNTNAP2 COA3 COG1 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COLEC10 COLEC11 COMT COX14 COX5A COX7B COX8A CPLANE1 CPLX1 CRB1 CREBBP CRIPT CRKL CRPPA CRTAP CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTLA4 CTNND1 CTNND2 CTSK CTU2 CUX1 CYP27A1 DCHS1 DCLRE1B DCPS DDB1 DDR2 DDX3X DDX59 DDX6 DEAF1 DEF6 DHCR7 DHPS DHX37 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLX4 DNAJC21 DNM1L DNMT3A DNMT3B DOCK6 DOK7 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DUSP6 DVL1 DVL3 DYNC1I2 DYRK1A EBF3 EBP EDEM3 EED EEF1A2 EFEMP2 EFNB1 EHMT1 EIF2AK3 EIF5A ELMO2 ELN EMC1 EP300 EPB41L1 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERF ERGIC1 ERMARD ESCO2 EVC EVC2 EXOC2 EXOSC2 EXOSC9 EXT2 EXTL3 EZH2 FAM111A FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARSA FARSB FAT4 FBN1 FBXO11 FBXO31 FGD1 FGF17 FGF20 FGF3 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP14 FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FN1 FOCAD FOXC1 FOXE3 FOXF1 FOXG1 FOXH1 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FUCA1 FZD2 GABRD GAD1 GALNT2 GAS1 GATA1 GATA2 GATA4 GATA5 GATA6 GATAD2B GBA1 GDF1 GFRA1 GGT1 GJA1 GJA5 GJA8 GK GLB1 GLE1 GLI2 GLI3 GLYCTK GNB2 GNE GNPTAB GNRH1 GNRHR GNS GON7 GORAB GP1BB GPAA1 GPC3 GPC4 GPKOW GPT2 GREB1L GRIA3 GRIN1 GRIP1 GSC GTF2E2 GTF2H5 H3-3A H4C11 H4C3 H4C5 H4C9 HACE1 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HECTD4 HECW2 HELLS HEPACAM HERC1 HEY2 HHAT HID1 HIRA HIVEP2 HLA-DPA1 HLA-DPB1 HMGA2 HNRNPH2 HNRNPK HNRNPU HPDL HRAS HS2ST1 HS6ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 HYLS1 HYMAI IARS2 IDUA IFT122 IFT140 IFT43 IFT52 IFT81 IGF1R IGF2 IGHM IGLL1 IL11RA IL1RAPL1 IL6ST INPPL1 INSR INTS1 INTS8 INTU IPO8 IQSEC2 IRF4 IRX5 ITCH ITGA3 ITGA8 JAG1 JARID2 JMJD1C KANSL1 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KCTD1 KDM1A KDM5C KDR KIAA0586 KIAA0753 KIDINS220 KIF15 KIF21A KIF26A KIF7 KIFBP KISS1 KISS1R KLF13 KLHL41 KMT2A KMT2B KMT2D KMT2E KNL1 KNSTRN KPTN KRAS KREMEN1 LAGE3 LARP7 LAS1L LBR LEMD2 LEMD3 LETM1 LIFR LIG4 LMBR1 LMNA LMNB1 LOX LRP2 LRP4 LRP5 LRPPRC LRRC8A LTBP1 LTBP4 LUZP1 LZTR1 MACF1 MAD1L1 MAD2L2 MAF MAFB MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MARS2 MASP1 MAT2A MBD5 MCTP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MFAP5 MGAT2 MICU1 MID1 MIPEP MITF MKS1 MLXIPL MMP2 MMP23B MN1 MOCS1 MOCS2 MPLKIP MRAS MRPS14 MSL3 MSTO1 MSX2 MTHFR MTOR MTX2 MUSK MYD88 MYH11 MYH3 MYLK MYOD1 MYPN NAA10 NALCN NARS1 NBAS NCDN NDE1 NDP NEB NEDD4L NELFA NF1 NF2 NFASC NFIX NGF NGLY1 NHLH2 NIN NIPBL NKX2-5 NKX2-6 NKX3-2 NLRP3 NODAL NONO NOTCH2 NOTCH3 NOVA2 NRAS NRCAM NSD1 NSD2 NSMCE3 NSMF NSRP1 NSUN2 NTNG2 NTRK1 NUP107 NUP133 NUP88 NXN OCRL ODC1 OFD1 OGT OPHN1 ORAI1 OSGEP OSTM1 OTUD5 OTX2 P3H1 P4HB PACS1 PACS2 PAFAH1B1 PAH PAICS PAK1 PAK3 PALB2 PARS2 PAX3 PCLO PDCD6IP PDE4D PDE6D PDGFB PDGFRB PDHX PDPN PDZD8 PEPD PEX1 PEX2 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PHACTR1 PHF6 PHGDH PHIP PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGU PIGV PIGW PIGY PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PKDCC PLAGL1 PLCB3 PLCH1 PLEC PLK4 PLOD3 PLP1 PMM2 POC1A POGZ POLA1 POLD1 POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POLR3GL POLRMT POR POU1F1 POU4F1 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PRDM13 PRDM16 PRKACB PRKAR1A PRKAR1B PRKCZ PRKDC PRKG1 PRMT7 PROK2 PROKR2 PRORP PRPS1 PRR12 PRRX1 PRTN3 PRUNE1 PSAT1 PSMB8 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PTRH2 PUF60 PUS1 PUS7 PYCR1 PYCR2 QARS1 QRICH1 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RALGAPA1 RAPSN RARS2 RASA2 RB1 RBL2 RBM10 RECQL RECQL4 RELN RERE RET RFWD3 RHOBTB2 RIPK4 RIT1 RLIM RMRP RNF113A RNF2 RNU12 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RSRC1 RTL1 RTTN RUNX2 RUSC2 RYR1 SALL4 SATB2 SCN1A SCN4A SCNM1 SCYL2 SEC23A SEC24C SEC24D SEMA3E SEMA5A SEPTIN9 SERPINH1 SET SETBP1 SETD1A SETD2 SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SHOC2 SHPK SIAH1 SIK3 SIN3A SIX2 SIX3 SKI SKIC2 SKIC3 SLC12A6 SLC18A3 SLC1A4 SLC25A12 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35A1 SLC35C1 SLC37A4 SLC39A13 SLC39A14 SLC39A7 SLC45A1 SLC9A6 SLC9A7 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMARCD1 SMARCE1 SMC1A SMCHD1 SMG9 SMO SMPD4 SMS SNAP29 SNRPN SON SOS1 SOS2 SOST SOX6 SOX9 SPART SPECC1L SPEN SPI1 SPINT2 SPOP SPRED1 SPRED2 SPRY4 SPTBN1 SRC SRCAP SRD5A3 SSR4 STAG1 STAG2 STAMBP STAT3 STIL STIM1 STRADA SUFU SUOX SUPT16H SUZ12 SYNGAP1 TAC3 TACR3 TAF1 TAFAZZIN TAOK1 TAPT1 TARS1 TASP1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX4 TCF12 TCF20 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDO2 TELO2 TENM3 TERT TFAP2A TFAP2B TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC2 THOC6 THRA THRB THSD1 THSD4 THUMPD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM231 TMEM237 TMEM53 TMEM67 TMEM94 TNFRSF11A TOGARAM1 TONSL TOPORS TP53RK TPM2 TPM3 TPR TPRKB TRAF7 TRAPPC9 TRIM37 TRIM8 TRIO TRIP12 TRIP13 TRIP4 TRMT10A TRPM3 TRRAP TSHR TSR2 TTC26 TTC7A TTI2 TUBA1A TUBB TWIST1 TWIST2 TXNDC15 TXNL4A UBE2A UBE2T UBE3A UBE3B UBE4B UBR7 UFC1 UFD1 UGDH UMPS USB1 USP9X VAC14 VANGL2 VPS35L VPS51 VSX1 WAC WARS2 WASF1 WASHC5 WDPCP WDR11 WDR19 WDR35 WDR37 WDR4 WDR73 WNT5A WNT9B XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YRDC YWHAE ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZFPM2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF292 ZNF526 ZNF668 ZNF699 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM ARSA GLA GM2A HEXA HEXB KHK LPIN1 MCOLN1 MT-CO1 MT-CO3 OBSCN PSAP HP_ABNORMALITY_OF_GLYCOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLYCOLYSIS ACAT2 AIFM1 BCS1L COX10 COX16 COX6A2 DLD FOXRED1 KARS1 LDHA LIPT2 LONP1 MECP2 MPC1 MT-ND1 MT-ND2 MT-ND3 MT-TF MT-TI MT-TK MT-TL1 MT-TP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL PC PDHA1 PDHX PITRM1 PNPLA8 POLG SCO2 SDHB SLC25A26 TIMMDC1 TMEM126B TWNK UQCRC2 HP_ABNORMALITY_OF_HAIR_GROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_GROWTH ADAM17 BRAF CDSN CST6 DSG4 EDAR EDARADD EGFR GJA1 GJB6 GTF2E2 IFT122 KRAS KRT25 KRT71 KRT74 KRT81 KRT83 KRT86 LIPH LPAR6 MAP2K1 MAP2K2 NR2F1 PPP1CB RNF113A RPL21 SHOC2 TP63 TRPS1 HP_ABNORMALITY_OF_HAIR_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_PIGMENTATION ABCA2 ACD AP3B1 AP3D1 ATM ATP10A ATP7A BLOC1S3 BLOC1S5 BRCC3 CACNA1F CHN1 CLCN7 CTC1 CTNS DCT DHCR7 DKC1 DPP9 DSTYK DTNBP1 EDN3 EDNRB ELN EPG5 ERCC6 ERCC8 FAS FDFT1 FGFR3 GJB6 GNPTAB HERC2 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS IFT140 INSR KANSL1 KIT KITLG KRT25 KRT71 KRT74 LAMTOR2 LIPH LMNA LPAR6 LRMDA LRPPRC LYST MAFB MAGEL2 MC1R MDM2 MITF MKRN3 MLPH MLXIPL MOGS MTAP MYO5A NAF1 NDN NHP2 NOP10 NPAP1 NPM1 OCA2 PADI3 PAH PARN PAX3 PCSK1 PDE4D PEPD PIGN POMC PRDM5 PRKAR1A PSMB8 PTPN22 PWAR1 PWRN1 RAB27A RECQL4 RMRP RPA1 RTEL1 SALL4 SIM1 SKIC2 SKIC3 SLC17A5 SLC24A5 SLC45A2 SLC5A6 SNAI2 SNORD115-1 SNORD116-1 SNRPN SOX10 SPRTN STN1 TAFAZZIN TERC TERT TFAP2A TGM3 TINF2 TMCO1 TP63 TYMS TYR TYRP1 UBE3A UBR1 USB1 WDR45 WRAP53 WRN ZNF469 ZNF699 HP_ABNORMALITY_OF_HAIR_TEXTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_TEXTURE AARS1 ABCD1 AFF4 AHCY ALMS1 ALX4 ARID1B ASL ATAD3A ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BCS1L BRAF BRF1 C18orf32 CARS1 CBL CBS CCDC47 CDH3 CDK13 CDSN CERT1 CLCN7 COL3A1 CSTB CTC1 DCAF17 DEAF1 DPYSL5 DSC2 DSG2 DSG4 DSP EBP EDA EDAR EDARADD EED EFNB1 EPS8L3 ERCC2 ERCC3 ERCC6 ERCC8 EZH2 FLNA FOCAD GAN GATAD2B GJA1 GJB6 GNB2 GNPTAB GNS GON7 GTF2E2 GTF2H5 GTPBP2 GUSB H4C5 HEATR3 HECTD4 HGSNAT HNRNPH2 HPD HR HRAS HRURF IFT122 IFT43 IKBKG ITGA3 JUP KANK2 KANSL1 KAT6B KCTD1 KRAS KREMEN1 KRT17 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LIG4 LIPH LPAR6 LZTR1 MAP2K1 MAP2K2 MED12 MPLKIP MRAS MSX1 MTOR NAA10 NAGLU NBAS NECTIN1 NECTIN4 NFIX NOTCH2 NOTCH3 NRAS NSD1 NSUN2 OCRL OFD1 PADI3 PCNT PERP PHGDH PIGL PLOD3 PORCN PPP1CB PPP1R15B PQBP1 PRR12 PTEN PTPN11 PYCR1 RAF1 RASA2 RIPK4 RIT1 RLIM RMRP RNF113A RNU4ATAC RPL21 RPS23 RPS6KA3 RRAS RRAS2 SATB2 SCUBE3 SEC23A SGSH SHOC2 SIN3A SIN3B SKIC2 SKIC3 SLC25A24 SLC7A7 SMAD4 SMARCA2 SMARCAL1 SNX10 SON SOS1 SOS2 SPINK5 SPRED2 SREBF1 ST14 SUMF1 SUOX SUZ12 SVBP TARS1 TCHH TCIRG1 TGM3 TINF2 TMCO1 TMEM147 TMEM231 TNFSF11 TP63 TRIM8 TRMT10A TRNT1 TRPS1 TTC5 TWIST2 USP9X VPS33A WDR35 WNT10A ZMPSTE24 HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY ASAH1 BRAF CBL CCN6 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COMP CSGALNACT1 FBN1 FGD1 FLNC GNB2 GNPTAB GORAB HDAC4 HNRNPDL HRAS HYAL1 IFITM5 KCNH1 KRT1 LMX1B MED12 NFASC NLRP1 OTUD6B P4HTM PIGG PKDCC PLAA PROKR2 PRR12 PTDSS1 RAB3GAP2 RNF13 RPS6KA3 SMS SP7 TMCO1 YY1 HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY ABCD3 ACAD9 ACADM ACTG2 ACVRL1 AKR1D1 ALDOB ALG1 ALG3 ALG8 ALMS1 AMACR ASAH1 ASXL1 ATP6AP2 ATP7B ATRX BAAT BCS1L BLVRA BMP6 BTNL2 CACNA1S CALR CBL CC2D2A CCDC115 CCDC47 CLDN1 COA8 COG2 COG4 COG7 COQ2 COX16 CPT1A CPT2 CTC1 CYC1 CYP7B1 DAXX DCDC2 DDOST DEF6 DGUOK DKC1 DLD EIF2AK3 ENG EPM2A F13A1 F13B F5 FADD FAH FARSB FBP1 FECH FH FOCAD GALM GALT GANAB GATC GBA1 GBE1 GDF2 GFM1 GPR35 GSTZ1 H4C3 HADH HADHA HADHB HBB HFE HLA-B HLA-DRB1 HMGCL HSD3B7 IARS1 IFT122 IFT172 IKZF1 IL12A IL12RB1 IL18BP IL21R INPP5E IRF5 ITCH JAG1 JAK2 KRT18 LARS1 LARS2 LIPA LIPT1 LRPPRC LYST MARS1 MED12 MEFV MICOS13 MMEL1 MPI MPV17 MRM2 MRPS23 MRPS7 MST1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TN MT-TS1 MT-TT MT-TV MT-TW NAGS NBAS NDUFS4 NHLRC1 NHP2 NOP10 NPC1 NPM1 NR1H4 OCLN OSTM1 OTC P4HA2 PARN PARS2 PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGA PNPT1 POLG POLG2 PORCN POU2AF1 PRF1 PTPN22 QRSL1 RBM10 RINT1 RMND1 RNU12 RPGRIP1L RTEL1 RUNX1 RYR1 SC5D SCYL1 SEMA4D SERPINA1 SH2D1A SKIC3 SLC25A15 SLC25A20 SLC2A2 SLC30A10 SLC39A8 SLC7A7 SMAD4 SMPD1 SP110 SPIB SRSF2 STX11 STXBP2 SURF1 TALDO1 TCF4 TERC TERT TET2 TFAM TINF2 TJP2 TMEM199 TMEM67 TNFSF15 TNPO3 TRMT10C TRMU TYMS UBR1 UGT1A1 UNC13D UQCRC2 USB1 VPS51 WRAP53 XIAP ZNFX1 HP_ABNORMALITY_OF_HUMORAL_IMMUNITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY AARS1 ADA ADA2 ADAM17 ADAMTS3 AICDA AK2 ALB ALG12 ARHGEF1 ATM ATP6AP1 ATP6AP2 B2M BACH2 BANK1 BCL10 BLK BLM BLNK BTK C1QA C1QB C1QC C1S C3 C4A C4B C5 C6 C7 C8A C8B C9 CARD10 CARD11 CARD9 CARMIL2 CARS1 CASP10 CASP8 CAVIN1 CCBE1 CCND1 CD19 CD247 CD27 CD28 CD3D CD3E CD3G CD40 CD40LG CD46 CD55 CD70 CD79A CD79B CD81 CDCA7 CDSN CFB CFD CFH CFHR1 CFHR3 CFI CFP CIITA CISD2 CNBP COG6 COL1A1 COL7A1 CORO1A CR2 CSNK2A1 CTLA4 CTNNBL1 CTPS1 CXCR4 DCLRE1C DNASE1 DNASE1L3 DNMT3B DOCK8 DSG1 EGFR ELANE EPG5 ERCC2 ERCC3 ETS1 EXTL3 FAS FASLG FAT4 FCGR2B FCGR3B FLNA FNIP1 FOXP3 GALK1 GBA1 GPC3 GPC4 GPR35 GTF2E2 GTF2H5 HELLS HLA-DQA1 HLA-DQB1 HLA-DRB1 HYOU1 ICOS IFIH1 IFNGR1 IGHG1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL10 IL12A IL12RB1 IL21 IL21R IL2RA IL2RB IL2RG IL4R IL6R IL6ST IL7R IPO8 IRAK1 IRAK4 IRF2BP2 IRF5 IRF8 ITCH ITGAM ITK IVNS1ABP JAK3 JAZF1 KIAA0319L KLHDC8B KNSTRN KRAS KRT14 KRT5 KRT74 KRT9 LAMTOR2 LAT LCK LIG1 LIG4 LMNA LMNB2 LRBA LRRC8A MAGT1 MALT1 MAN2B1 MASP2 MECP2 MGAT2 MMEL1 MOGS MPLKIP MS4A1 MS4A2 MSN MST1 MTHFD1 MTOR MUC5B MVK MYD88 MYSM1 NAE1 NBN NCKAP1L NFE2L2 NFKB1 NFKB2 NFKBIA NHEJ1 NHLRC2 NLRP1 NRAS NSMCE3 NTRK1 OAS1 ORAI1 OTULIN PACS1 PDCD1 PEPD PGM3 PIGT PIK3CD PIK3CG PIK3R1 PLA2G7 PLCG2 PLVAP PMM2 POLE POMP POU2AF1 PRF1 PRIM1 PRKCD PSMB4 PSMB8 PSMB9 PSTPIP1 PTEN PTPN22 PTPRC PXK RAC2 RAD50 RAG1 RAG2 RASGRP1 RBM8A REL RFX5 RFXANK RFXAP RIPK1 RMRP RNF113A RNF168 RNU4ATAC RPA1 RTEL1 SAMD9L SASH3 SAT1 SCARB2 SEMA4D SERPING1 SETX SFTPA2 SFTPC SH2D1A SH3KBP1 SIK3 SKIC2 SKIC3 SLC25A13 SLC35C1 SLC39A7 SLC46A1 SLC5A6 SLC7A7 SMARCAL1 SON SP110 SPI1 SPIB SPINK5 SPP1 SPPL2A SRP54 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STX11 STXBP2 SYK TARS1 TCF3 TCF4 TCN2 TERT TFRC TGFB1 THBD TIMM8A TLR7 TLR8 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF9 TNFSF12 TNFSF15 TNFSF4 TNIP1 TNPO3 TOM1 TONSL TP53 TPP2 TREX1 TRMU TRNT1 TTC7A TYK2 TYMS UBE2L3 UNC13D UNG VPS33A VPS45 WAS XIAP ZAP70 ZBTB24 ZEB2 ZNF341 HP_ABNORMALITY_OF_IMMUNE_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IMMUNE_SYSTEM_PHYSIOLOGY A2ML1 AARS1 AASS ABCA12 ABCA3 ABCB1 ABCB11 ABCB4 ABCC6 ABCC8 ABCC9 ABCD1 ACADVL ACD ACP5 ACTA1 ACTB ACTC1 ACTG2 ACTN4 ACVRL1 ADA ADA2 ADAM17 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADNP ADORA2A AEBP1 AFF4 AGA AGL AGPAT2 AGR2 AGRN AGXT AICDA AIP AIRE AK2 AKR1D1 AKT1 AKT2 ALB ALDH18A1 ALDH1A2 ALDH3A2 ALG1 ALG12 ALG13 ALG14 ALG3 ALG5 ALG9 ALMS1 ALOX12B ALOX5 ALOXE3 ALPL AMACR AMN ANAPC1 ANGPT2 ANK1 ANKFY1 ANKRD11 ANKRD17 ANKRD55 ANLN ANO5 ANTXR2 AP1B1 AP1S3 AP2S1 AP3B1 AP3D1 APC APC2 APOA1 APOC2 APOE APOL1 APPL1 APRT AR ARHGAP24 ARHGAP29 ARHGDIA ARHGEF1 ARHGEF2 ARHGEF38 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARMC5 ARPC1B ARSB ARSL ARVCF ASAH1 ASPRV1 ASXL1 ASXL3 ATAD1 ATL1 ATL3 ATM ATN1 ATOH7 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1B2 ATP7A ATP7B ATP8B1 ATR ATRX AUTS2 AXIN1 B2M B3GALT6 B4GALT1 BACH2 BANK1 BAP1 BAZ1B BBS1 BCAP31 BCHE BCKDHA BCKDHB BCL10 BCL11A BCL11B BCL2 BCL6 BCL7B BCOR BCR BCS1L BICC1 BICRA BIRC3 BLK BLM BLNK BLOC1S6 BMP4 BNC2 BPTF BRAF BRCA1 BRCA2 BRD4 BRIP1 BSCL2 BTD BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C1GALT1C1 C1QA C1QB C1QC C1R C1S C2 C2orf69 C3 C4A C4B C5 C6 C7 C8A C8B C9 CACNA1B CACNA1C CACNA1G CALR CAMK2B CAPN3 CAPN5 CARD10 CARD11 CARD14 CARD8 CARD9 CARMIL2 CARS1 CASP10 CASP8 CASR CAT CAV1 CAVIN1 CBL CBS CCBE1 CCDC103 CCDC22 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCL11 CCN2 CCN6 CCND1 CCNO CCR1 CCR6 CCT5 CD151 CD19 CD244 CD247 CD27 CD28 CD2AP CD3D CD3E CD3G CD4 CD40 CD40LG CD46 CD55 CD70 CD79A CD79B CD81 CD8A CD96 CDC42 CDC42BPB CDC45 CDC73 CDCA7 CDH1 CDH23 CDH3 CDK10 CDKN1B CDKN1C CDON CDSN CEACAM3 CEACAM6 CEBPE CEL CEP57 CERS3 CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP52 CFAP74 CFB CFD CFH CFHR1 CFHR3 CFHR5 CFI CFP CFTR CHAMP1 CHAT CHD1 CHD7 CHRM3 CHRNA1 CHRNA3 CHRNB1 CHRND CHRNE CHST14 CIB1 CIC CIDEC CIITA CISD2 CITED2 CLCA4 CLCN7 CLCNKB CLDN1 CLDN16 CLDN19 CLEC7A CLIP2 CLN3 CLPB CLTCL1 CLTRN CNBP COBLL1 COG1 COG4 COG6 COG7 COG8 COL11A1 COL11A2 COL13A1 COL17A1 COL1A1 COL2A1 COL3A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COMT COPA COQ8B CORIN CORO1A COX4I2 COX8A CPA1 CPLX1 CPN1 CPSF3 CR2 CRB2 CREBBP CRIPT CRKL CRLF1 CRYAB CSF2RA CSF2RB CSF3R CSNK2A1 CSPP1 CST6 CSTA CTBP1 CTC1 CTCF CTLA4 CTNNB1 CTNNBL1 CTPS1 CTRC CTSB CTSC CUBN CUL4B CXCR2 CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP4F22 CYP7A1 CYP7B1 CYSLTR2 DAAM2 DBR1 DBT DCDC2 DCLRE1B DCLRE1C DCTN4 DDB1 DDB2 DDOST DDR2 DDX41 DDX59 DDX6 DEAF1 DEF6 DGCR2 DGCR6 DGCR8 DGKE DHCR7 DIAPH1 DIP2B DISC1 DISP1 DKC1 DLG1 DLK1 DLL1 DLL3 DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC21 DNAJC3 DNAJC30 DNAL1 DNASE1 DNASE1L3 DNASE2 DNMT1 DNMT3B DOCK2 DOCK8 DOHH DOK7 DOLK DPF2 DPM2 DPP9 DPYSL5 DRC1 DSE DSG1 DUT DYM DYNC2I2 DYRK1A DZIP1L EBP ECE1 ECM1 EDA EDAR EDARADD EDN3 EDNRA EDNRB EFEMP2 EFL1 EGFR EHMT1 EIF2AK3 EIF2AK4 EIF4H ELANE ELF4 ELN ELOVL4 ELP1 EMP2 EN1 ENG ENPP1 EOMES EP300 EPB42 EPCAM EPG5 EPHB4 EPM2A ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESR1 ESS2 ETS1 EXOSC9 EXT1 EXTL3 EYA4 F13A1 F13B F5 FADD FAM111B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN1 FBXL4 FBXO11 FBXO28 FBXW7 FCGR2A FCGR2B FCGR3A FCGR3B FCHO1 FCN3 FCSK FECH FERMT1 FERMT3 FGA FGF10 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIG4 FIP1L1 FKBP6 FLG FLG2 FLI1 FLII FLNA FLNC FLT1 FLT4 FLVCR1 FMO3 FMR1 FNIP1 FOCAD FOXC2 FOXD3 FOXH1 FOXJ1 FOXN1 FOXP1 FOXP2 FOXP3 FRAS1 FUCA1 FUT8 FZD2 G6PC1 G6PC3 GAA GALC GALK1 GALM GALNS GALT GANAB GAPVD1 GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA3 GATA4 GATA6 GBA1 GCGR GCK GCLC GDNF GEMIN4 GFI1 GFM2 GGT1 GIMAP5 GINS1 GIPC1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLB1 GLI2 GLI3 GLIS3 GLRA1 GLRA2 GLRB GLUL GMNN GNA11 GNAQ GNAS GNB1 GNB2 GNPTAB GNS GON7 GORAB GOT2 GP1BA GP1BB GP9 GPC3 GPC4 GPHN GPIHBP1 GPR101 GPR35 GRB10 GRHL2 GRHL3 GRHPR GRIA1 GRIA3 GRIN2A GRM7 GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C GUSB H3-3B H4C3 H4C5 H6PD HACD1 HAVCR2 HAX1 HBA1 HBA2 HBB HBG1 HBG2 HCK HDAC4 HDAC8 HELLS HEPHL1 HERC2 HES7 HFE HGD HGSNAT HIRA HLA-A HLA-B HLA-C HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G HLCS HMGA2 HMGCL HMOX1 HNF1A HNF4A HNMT HNRNPA2B1 HOXA13 HPGD HPS1 HPS6 HPSE2 HSD3B7 HSPA9 HSPG2 HYAL1 HYDIN HYMAI HYOU1 IARS1 IARS2 ICOS IDH1 IDS IDUA IER3IP1 IFIH1 IFNAR1 IFNAR2 IFNG IFNGR1 IFNGR2 IFT122 IFT140 IFT172 IGBP1 IGF2 IGF2R IGHG1 IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IKBKG IKZF1 IKZF3 IL10 IL10RA IL10RB IL11RA IL12A IL12A-AS1 IL12B IL12RB1 IL13 IL17F IL17RA IL17RC IL18BP IL1R1 IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL37 IL4R IL6 IL6R IL6ST IL7 IL7R INAVA INF2 INPPL1 INS INSR IPO8 IQSEC2 IRAK1 IRAK4 IRF2BP2 IRF3 IRF4 IRF5 IRF6 IRF7 IRF8 IRF9 IRGM ISG15 ISL1 ITCH ITGA3 ITGA6 ITGA7 ITGAM ITGB2 ITGB4 ITK ITPR3 IVNS1ABP JAGN1 JAK1 JAK2 JAK3 JAZF1 JMJD1C KANK2 KANSL1 KARS1 KAT5 KAT6A KAT6B KATNIP KCNJ11 KCNJ6 KCNN4 KCTD1 KDF1 KDM5C KDM6A KDSR KIAA0319L KIAA0586 KIF11 KIF12 KIF15 KIF1A KIF20A KIRREL1 KIT KLF1 KLF11 KLHDC8B KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT5B KNSTRN KPTN KRAS KRT1 KRT10 KRT14 KRT17 KRT18 KRT5 KRT74 KRT9 KYNU L2HGDH LACC1 LAGE3 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMTOR2 LAT LBR LCK LCP2 LDHA LEMD3 LEP LEPR LETM1 LFNG LGI3 LHCGR LIFR LIG1 LIG3 LIG4 LIMK1 LIPN LMBRD1 LMF1 LMNA LMNB1 LMNB2 LMOD1 LMX1B LONP1 LPIN1 LPIN2 LPL LRBA LRIF1 LRIG2 LRP12 LRRC32 LRRC56 LRRC8A LSM11 LSS LTBP1 LTBP3 LTBP4 LYST LYZ MAB21L1 MAD2L2 MAF MAGEL2 MAGI2 MAGT1 MALT1 MAN2B1 MANBA MAP3K20 MAP3K7 MAPK1 MARS2 MASP2 MBD5 MBL2 MBTPS2 MC2R MCCC2 MCIDAS MCM10 MCM4 MDFIC MDM4 MECP2 MED12 MED13L MED25 MEFV MEG3 MEGF10 MEIS2 MEN1 MESP2 MET METTL27 MGAT2 MGME1 MGP MIA3 MID1 MIF MINPP1 MIR140 MKRN3 MLPH MLX MLXIPL MMACHC MME MMEL1 MMP1 MMP2 MMUT MNS1 MNX1 MOGS MORC2 MPDU1 MPEG1 MPL MPLKIP MPV17 MRAP MRTFA MS4A1 MS4A2 MSMO1 MSN MST1 MSX1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTAP MTHFD1 MTM1 MTOR MTTP MUC5B MUC7 MVK MYC MYCN MYD88 MYH11 MYH3 MYH6 MYH9 MYL2 MYL9 MYLK MYO1E MYO1H MYO5A MYO9A MYPN MYSM1 NAA10 NABP1 NADK2 NAE1 NAGLU NARS2 NAXD NBEA NBN NCF1 NCF2 NCF4 NCKAP1L NCSTN NDE1 NDN NDP NDUFA6 NDUFC2 NDUFS3 NECTIN1 NEK10 NEK9 NELFA NEPRO NEUROD1 NF1 NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NFKBIL1 NFS1 NGF NGLY1 NHEJ1 NHLRC1 NHLRC2 NHP2 NIPAL4 NIPBL NKX2-1 NKX2-5 NLRC4 NLRP1 NLRP12 NLRP3 NME5 NME8 NNT NOD2 NODAL NOP10 NOS1 NOTCH2 NOTCH2NLC NPAP1 NPHS1 NPHS2 NPM1 NR1H4 NR3C1 NRAS NRTN NSD1 NSD2 NSMCE2 NSMCE3 NSUN2 NTRK1 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP214 NUP37 NUP85 NUP93 NXN OAS1 OBSCN OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPLAH ORAI1 ORC6 OSGEP OSTM1 OTULIN P4HA2 P4HTM PACS1 PAFAH1B1 PAH PAK2 PALB2 PANK2 PAPSS2 PARN PAX1 PAX2 PAX4 PAX6 PCCA PCCB PCGF2 PCNT PCYT1A PDCD1 PDE11A PDE4D PDGFRA PDGFRL PDHA1 PDX1 PEPD PERCC1 PET117 PEX19 PEX5 PGM1 PGM2L1 PGM3 PHGDH PHIP PHKA2 PHKB PHKG2 PI4KA PIEZO1 PIGA PIGG PIGN PIGT PIGU PIGY PIK3CA PIK3CD PIK3CG PIK3R1 PKD1 PKD2 PKHD1 PKP1 PLA2G6 PLA2G7 PLAG1 PLAGL1 PLCD1 PLCE1 PLCG2 PLCH1 PLEC PLEKHM1 PLG PLOD1 PLP1 PLVAP PLXND1 PML PMM2 PNP PNPLA1 PNPLA2 POFUT1 POGLUT1 POGZ POLA1 POLE POLG POLH POLR2A POLR3A POLR3F POLR3GL POMP POU2AF1 PPARG PPM1D PPP1R21 PRDM12 PREPL PRF1 PRG4 PRIM1 PRKACA PRKAR1A PRKAR1B PRKCD PRKDC PRMT7 PRORP PRPS1 PRSS1 PRSS2 PRTN3 PSAP PSEN1 PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSMD12 PSMG2 PSPH PSTPIP1 PTCD3 PTCH1 PTEN PTGER2 PTPN2 PTPN22 PTPRC PTPRO PURA PWAR1 PWRN1 PXK PYROXD1 RAB27A RAB3GAP2 RAB7A RAC1 RAC2 RAD21 RAD50 RAD51 RAD51C RAG1 RAG2 RAI1 RALGAPA1 RANBP2 RAPSN RARA RASGRP1 RBCK1 RBM8A RBP4 RECQL RECQL4 REEP1 REL RELA RELB RET RETREG1 REV3L RFC2 RFT1 RFWD3 RFX5 RFX7 RFXANK RFXAP RHAG RHCE RHD RHOH RIC1 RILPL1 RIN2 RIPK1 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNF168 RNF2 RNU12 RNU4ATAC RNU7-1 ROR2 RORC RPA1 RPGR RPL10 RPL11 RPS14 RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RTTN RUNX1 RUNX2 RYR1 SAMD9 SAMD9L SAMHD1 SASH3 SAT1 SATB1 SATB2 SBDS SCARB2 SCGB3A2 SCN10A SCN11A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC61A1 SELENON SEMA3C SEMA3D SEMA3E SEMA4D SEMA6B SEPSECS SERAC1 SERPINA1 SERPING1 SERPINH1 SETBP1 SETD1A SETD2 SETX SF3B1 SFTPA2 SFTPB SFTPC SGCG SGSH SH2D1A SH3KBP1 SH3PXD2B SHANK3 SHH SHOC2 SHPK SHROOM4 SIAH1 SIK1 SIK3 SIM1 SIN3A SIX3 SKIC2 SKIC3 SLC11A1 SLC12A3 SLC18A3 SLC1A4 SLC22A4 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A22 SLC25A24 SLC26A2 SLC26A9 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC30A2 SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC41A1 SLC46A1 SLC4A1 SLC52A3 SLC5A2 SLC5A6 SLC5A7 SLC6A14 SLC6A19 SLC6A5 SLC7A7 SLC7A9 SLC9A3 SLCO2A1 SLF2 SLURP1 SLX4 SMAD3 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SMO SMPD1 SNAP25 SNAP29 SNORA31 SNORD115-1 SNORD116-1 SNRPN SNX10 SOCS1 SON SOX11 SOX17 SOX18 SOX4 SOX6 SOX9 SP110 SPAG1 SPATA5 SPEF2 SPI1 SPIB SPINK1 SPINK5 SPP1 SPPL2A SPTA1 SPTB SPTBN1 SPTBN4 SPTLC1 SPTLC2 SRCAP SRD5A3 SREBF1 SRP19 SRP54 SRSF2 SRY ST14 STAG2 STAR STAT1 STAT2 STAT3 STAT4 STAT5B STIL STIM1 STING1 STK36 STK4 STOX1 STUB1 STX11 STX16 STX1A STX3 STXBP1 STXBP2 SUCLG1 SUFU SULT2B1 SUOX SYK SYT2 TAF1 TAFAZZIN TALDO1 TAOK1 TAP1 TAP2 TAPBP TARS1 TASP1 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBC1D8B TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBX1 TBX19 TBX2 TBX20 TBX21 TBX4 TBX6 TBXAS1 TCEAL1 TCF3 TCF4 TCIRG1 TCN2 TCTN3 TDGF1 TECPR2 TEK TERC TERT TET2 TF TFE3 TFG TFRC TG TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 TGM5 THBD THOC6 THRB TICAM1 TIMM8A TIMMDC1 TINF2 TK2 TKFC TKT TLK2 TLL1 TLR3 TLR4 TLR7 TLR8 TMC6 TMC8 TMCO1 TMEM270 TMEM70 TMEM94 TNF TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TNFSF15 TNFSF4 TNIP1 TNNI3 TNNT2 TNPO3 TNRC6B TNXB TOM1 TONSL TOP3A TP53 TP53RK TP63 TP73 TPI1 TPM2 TPM3 TPP2 TPR TPRKB TRAC TRAF3 TRAF3IP2 TRAF6 TRAIP TRAPPC11 TRAPPC2 TREX1 TRHR TRIM37 TRIM8 TRIO TRIP11 TRIP13 TRIP4 TRMT10A TRMU TRNT1 TRPC6 TRPM4 TRPS1 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSHB TSHR TTC12 TTC26 TTC7A TXNRD2 TYK2 TYMS UBA1 UBA2 UBAC2 UBB UBE2A UBE2L3 UBE2T UBE3B UFC1 UFD1 UGP2 UMOD UMPS UNC119 UNC13D UNC45A UNC93B1 UNG UQCRH UROC1 UROD UROS USB1 USF3 USP26 USP48 USP7 USP8 USP9X VAMP1 VANGL1 VARS1 VIPAS39 VPS33A VPS33B VPS35L VPS37D VPS45 VPS4A VPS51 WAC WAS WASF1 WASHC5 WDR1 WDR11 WDR19 WDR26 WDR35 WDR4 WDR73 WFS1 WIPF1 WNT4 WRAP53 WT1 XDH XIAP XPA XPC XPNPEP3 XRCC2 XRCC4 XYLT1 YARS1 YRDC YY1 ZAP70 ZBTB16 ZBTB24 ZBTB7A ZEB1 ZEB2 ZFAT ZFP57 ZIC2 ZMYND10 ZNF341 ZNF668 ZNF699 ZNF750 ZNFX1 ZNHIT3 HP_ABNORMALITY_OF_IRON_HOMEOSTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS ABCD3 ALAS2 BCS1L BMP2 BMP6 CARD9 COL7A1 CP FOXP1 FTH1 FTL HAMP HBB HFE HJV KIF23 PIGA PKLR RACGAP1 SKIC2 SKIC3 SLC11A2 SLC25A38 SLC30A10 SLC40A1 STEAP3 TFR2 TRNT1 HP_ABNORMALITY_OF_JAW_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_JAW_MUSCLES ADGRG1 AGRN AK9 ATXN1 CACNA1S CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 FLNC GIPC1 IRF6 LPIN1 LRP12 LRP4 MSX1 MT-CO1 MT-CO3 MUSK NECTIN1 NOTCH2NLC OBSCN PI4KA RAPSN RILPL1 RYR1 SCN4A SRPX2 TP63 HP_ABNORMALITY_OF_JOINT_MOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_JOINT_MOBILITY AARS1 ABCA12 ABCC6 ABCC8 ABCC9 ABCD1 ABHD12 ABL1 ACADM ACADS ACAN ACER3 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADAT3 ADCY6 ADGRG1 ADGRG6 ADGRL1 ADGRV1 ADNP AEBP1 AFF4 AGA AGRN AGTPBP1 AHDC1 AHSG AIFM1 AIMP1 AIMP2 AKT1 ALAD ALDH18A1 ALDH3A2 ALG1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ALG9 ALOX12B ALOXE3 ALS2 ALX1 ALX3 AMER1 AMMECR1 ANAPC1 ANKH ANKLE2 ANKRD11 ANKRD17 ANKRD55 ANO5 ANTXR1 ANTXR2 AP1G1 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARCN1 ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARPC4 ARSB ARVCF ARX ASAH1 ASCC1 ASH1L ASPA ASPH ASPN ASXL1 ASXL2 ASXL3 ATAD1 ATN1 ATP11A ATP2A1 ATP5F1D ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATPAF2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D2 BAG3 BANF1 BAZ1B BCAS3 BCL11A BCL7B BCOR BCR BGN BHLHA9 BICD2 BICRA BIN1 BLTP1 BMP1 BMP6 BMPER BMPR1A BMPR1B BPNT2 BRAF BRAT1 BRD4 BRF1 BRPF1 BUD23 C12orf4 C18orf32 C19orf12 C1R C1S CACNA1A CACNA1C CACNA1E CADM3 CAMK2A CAMLG CAMTA1 CANT1 CAPN3 CARS1 CASZ1 CAV1 CAVIN1 CBL CBS CCBE1 CCDC22 CCDC32 CCDC47 CCDC8 CCN2 CCN6 CCNQ CCR6 CD244 CD247 CD96 CDC42 CDC42BPB CDC45 CDC6 CDH11 CDH3 CDK13 CDK5 CDON CDT1 CENPE CENPJ CEP104 CEP152 CEP55 CFL2 CHAMP1 CHAT CHD3 CHD4 CHD7 CHMP1A CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CHSY1 CIITA CISD2 CKAP2L CLCF1 CLCN3 CLDN11 CLIC2 CLIP2 CLPB CNTN1 CNTNAP1 COASY COG1 COG5 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP COMT COQ7 COX11 CPLX1 CPT2 CREB3L1 CREBBP CRKL CRLF1 CRPPA CRTAP CSGALNACT1 CSNK2A1 CTBP1 CTCF CTDP1 CTNNB1 CTNND2 CTSK CUL4B CUL7 CYP26B1 DAG1 DARS2 DBH DCC DCHS1 DCPS DCX DDB1 DDHD2 DDR2 DDRGK1 DDX3X DEAF1 DEGS1 DHCR24 DHODH DHX16 DHX30 DISP1 DKK1 DLG4 DLK1 DLL1 DLL3 DMD DNA2 DNAJB6 DNAJC21 DNAJC30 DNAL4 DNM2 DNMT3A DOK7 DONSON DPAGT1 DPF2 DPH1 DPH2 DPM1 DPM2 DPYD DPYSL5 DSE DSP DST DUSP6 DVL1 DVL3 DYM DYNC2LI1 DYRK1A DYSF EBP ECE1 ECEL1 EED EFEMP2 EFNB1 EIF4A3 EIF4H EIF5A ELN ELOVL4 EMD EMG1 EMILIN1 EN1 ENPP1 EP300 EPB41L1 EPCAM EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC2 EXOC6B EXOC7 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EZH2 F8 FAM111B FAM20C FAN1 FANCC FANCI FARSA FARSB FAT4 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXO28 FBXW11 FCSK FDFT1 FERMT1 FGD1 FGF16 FGF17 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FITM2 FKBP10 FKBP14 FKBP6 FKRP FKTN FLII FLNA FLNB FLNC FLRT1 FLVCR1 FLVCR2 FMR1 FN1 FOCAD FOXH1 FOXP1 FUCA1 FUS FUT8 FUZ FZD2 GABRA1 GABRD GABRG2 GAD1 GALNS GAN GARS1 GAS1 GATA1 GATAD2B GBA1 GBE1 GCH1 GCK GDAP1 GDF11 GDF3 GDF5 GDF6 GFM2 GFPT1 GJA1 GJA5 GJA8 GJB1 GJB2 GJB6 GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLRA1 GLRB GLUL GMNN GMPPB GNAI3 GNAS GNB1 GNB2 GNE GNPAT GNPTAB GNPTG GNRH1 GNRHR GNS GOLGA2 GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GPT2 GRIA3 GRIA4 GRID2 GRIN1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H3-3A H3-3B H4C5 H4C9 HACD1 HBA1 HBA2 HCN1 HDAC4 HDAC8 HEPHL1 HERC1 HES7 HEXB HFE HGD HGSNAT HIKESHI HINT1 HIRA HK1 HLA-B HLA-DRB1 HNF1B HNRNPA1 HNRNPDL HNRNPH1 HNRNPH2 HNRNPK HOXA11 HOXA13 HOXD13 HPDL HPGD HRAS HS2ST1 HS6ST1 HSPB1 HSPD1 HSPG2 HUWE1 HYAL1 HYMAI IARS1 IARS2 IBA57 IDH1 IDH2 IDS IDUA IFIH1 IFITM5 IFT122 IFT43 IFT52 IGF2 IGHMBP2 IHH IKBKG IL10 IL1RAPL1 IL1RN IL2RA IL2RB IL6ST IMPDH2 INF2 INPPL1 INS IPO8 IQSEC2 IRF5 IRF6 ITCH ITGA7 ITGB4 ITGB6 JAG2 JARID2 JMJD1C JUP KANSL1 KAT6B KBTBD13 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNK9 KCNMA1 KCNN3 KDELR2 KDM1A KDM3B KDM5B KDM5C KDM6A KDM6B KIAA0319L KIAA0753 KIDINS220 KIF14 KIF15 KIF1A KIF21A KIF22 KIF26A KIF5A KIF5C KISS1 KISS1R KLC2 KLHL40 KLHL41 KLHL7 KLHL9 KMT2A KMT2B KMT2D KRAS KRT1 KRT14 KRT16 KRT83 KRT9 KY L1CAM LAGE3 LAMA2 LAMA5 LAMB2 LAMB3 LARGE1 LBR LEMD3 LETM1 LFNG LGI4 LIAS LIFR LIG4 LIMK1 LMBR1 LMBRD2 LMNA LMNB1 LMNB2 LMOD3 LMX1B LONP1 LOX LPIN2 LRP4 LRP5 LSM11 LSS LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LZTR1 MACROH2A1 MAF MAFB MAGEL2 MAMLD1 MAN1B1 MAN2B1 MAP1B MAP2K2 MAP3K20 MAP3K7 MAPK1 MARS1 MASP1 MATN3 MBTPS2 MCTP2 MECOM MECP2 MECR MED11 MED12 MED13L MED25 MEFV MEG3 MEGF10 MEGF8 MEOX1 MESP2 MET METTL27 MFN2 MICU1 MKKS MKS1 MLH1 MLH3 MLXIPL MMP1 MMP13 MMP2 MMP23B MMP9 MORC2 MPDU1 MPLKIP MRAS MRE11 MRPS34 MSH2 MSH6 MSL3 MSTO1 MT-TE MTM1 MTMR14 MTRFR MTX2 MUSK MVK MYBPC1 MYH2 MYH3 MYH7 MYH8 MYL1 MYL11 MYL2 MYMK MYO18B MYO9A MYOD1 MYOT MYPN NAA10 NACC1 NADSYN1 NAE1 NAGLU NALCN NANS NARS1 NCAPG2 NCF1 NDE1 NDRG1 NDUFAF4 NDUFS3 NEB NEDD4L NEFL NEK9 NEPRO NF1 NFASC NFATC2 NFIX NFKBIL1 NGLY1 NHLH2 NIPA1 NIPBL NKAP NKX3-2 NLRP1 NLRP3 NOD2 NODAL NOG NONO NOTCH2 NOTCH3 NPPA NPR2 NPR3 NR4A2 NRAS NRCAM NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NT5C2 NTN1 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCA2 OCRL OFD1 OPA1 OPA3 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTX2 P3H1 P4HA2 P4HB P4HTM PAK2 PAX2 PAX3 PAX7 PCDH19 PCGF2 PCNA PCNT PCYT1A PDE4D PDGFRB PDHA1 PDPN PDX1 PDXK PERP PEX1 PEX2 PEX5 PEX6 PEX7 PGM2L1 PGM3 PHACTR1 PHEX PHF6 PHGDH PHIP PI4KA PIEZO2 PIGA PIGG PIGL PIGN PIGP PIGS PIGT PIGU PIGY PIK3C2A PIK3CA PIK3R1 PIK3R2 PIP5K1C PITX1 PKDCC PLA2G6 PLAA PLAGL1 PLCH1 PLEC PLEKHG5 PLK4 PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PMM2 PMP22 PMS1 PMS2 PNKD PNPT1 POGZ POLD1 POLR1D POLR3A POLR3GL POMK POMT1 POMT2 POP1 POR PORCN PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PPP3CA PPT1 PQBP1 PRDM16 PRDM5 PRG4 PRKACA PRKACB PRKCZ PROK2 PROKR2 PRR12 PRRT2 PRUNE1 PSAT1 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN2 PTPN22 PTRH2 PUF60 PUS1 PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAF1 RAI1 RAPSN RARS2 RASA2 RBBP8 RBM28 RBM8A RECQL RECQL4 REEP1 RERE RET REV3L RFC1 RFC2 RFT1 RFX7 RIC1 RIN2 RIPK4 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNU12 RNU4ATAC RNU7-1 ROR2 RPL10 RPL26 RPS20 RPS6KA3 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUSC2 RYR1 RYR3 SALL1 SALL4 SAMHD1 SATB1 SATB2 SCARF2 SCN1A SCN1B SCN2A SCN4A SCN5A SCN9A SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHD SEC23A SEC24C SEC24D SEC31A SELENON SEMA4A SEMA5A SEPSECS SERPINF1 SERPINH1 SET SETBP1 SETD1A SETD2 SF3B2 SF3B4 SFRP4 SGCA SGCG SGSH SH3PXD2B SHANK3 SHH SHOC2 SHOX SHPK SIGMAR1 SIK3 SIL1 SIN3A SIN3B SIX3 SIX6 SKI SLC10A7 SLC12A6 SLC16A2 SLC18A3 SLC1A2 SLC1A4 SLC22A4 SLC25A1 SLC25A19 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC35A2 SLC35A3 SLC35B2 SLC39A13 SLC39A14 SLC39A8 SLC5A7 SLC6A5 SLC6A8 SLC6A9 SLC9A6 SLCO2A1 SLURP1 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMOC1 SMPD4 SMS SNAP25 SNRPB SNX14 SOBP SON SOS1 SOS2 SOX10 SOX11 SOX2 SOX4 SOX5 SOX9 SP7 SPARC SPART SPEG SPEN SPG11 SPRED2 SPRTN SPRY4 SPTBN1 SPTBN4 SPTLC1 SRCAP SRD5A3 SRPX2 STAC3 STAG1 STAG2 STAT3 STAT4 STIL STIM1 STING1 STRADA STX1A STX1B STXBP1 SUCLG1 SUFU SUMF1 SUZ12 SVIL SYNE1 SYNE2 SYT1 SYT2 TAB2 TAC3 TACR3 TAF1 TANC2 TAOK1 TAPT1 TARS1 TBC1D20 TBC1D2B TBCD TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX5 TBX6 TCF12 TCTN3 TDGF1 TDO2 TELO2 TENT5A TET3 TFAP2A TFAP2B TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THOC2 THOC6 TLK2 TMCO1 TMEM107 TMEM165 TMEM218 TMEM222 TMEM270 TMEM43 TMEM70 TMTC3 TNFRSF11B TNFRSF1A TNNC2 TNNI2 TNNT1 TNNT3 TNPO3 TNRC6B TNXB TOGARAM1 TONSL TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRAK1 TRAPPC2 TREM2 TREX1 TRIM2 TRIM8 TRIP11 TRIP13 TRIP4 TRMT10A TRPS1 TRPV3 TRPV4 TSEN54 TTC26 TTN TUBA1A TUBB3 TWIST1 TWIST2 TYROBP UBA1 UBE3A UBE4B UBR1 UCHL1 UFC1 UFD1 UNC80 UPF3B UROS USB1 USP7 USP9X VAMP1 VANGL1 VAPB VARS1 VCP VIPAS39 VMA21 VPS11 VPS13B VPS33A VPS33B VPS37A VPS37D VPS53 VRK1 VWA1 WASF1 WBP11 WDR11 WDR19 WDR26 WDR35 WDR4 WDR45B WDR73 WFS1 WIPI2 WNT1 WNT5A WNT7A WRN XYLT1 XYLT2 YARS1 YRDC YWHAG YY1 ZBTB20 ZBTB42 ZC4H2 ZDHHC9 ZEB2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF335 ZNF341 ZNF407 ZNF469 ZNHIT3 ZPR1 HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM FH FXN MMAA MMAB MMACHC MMADHC MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW OGDH PRDX1 HP_ABNORMALITY_OF_LENS_SHAPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LENS_SHAPE ADAMTS10 ASPH COL4A3 COL4A4 COL4A5 COL4A6 CRYAB ERCC6 ERCC8 FBN1 LAMB2 LTBP2 OCRL PRPH2 RDH5 RHO RLBP1 HP_ABNORMALITY_OF_LIMB_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIMB_BONE AARS1 ABCA12 ABCA3 ABCC8 ABCC9 ABCD1 ABL1 ACAN ACOX1 ACP5 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ACVRL1 ADA ADA2 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAT3 ADCY6 ADGRG6 ADGRV1 ADH5 ADNP AEBP1 AFF2 AFF3 AFF4 AGA AGO2 AGPS AHI1 AHSG AIFM1 AIP AKT1 AKT3 ALDH18A1 ALDH1A2 ALDH6A1 ALG12 ALG13 ALG14 ALG3 ALG6 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC1 ANKH ANKLE2 ANKRD11 ANKRD55 ANO5 ANTXR1 ANTXR2 AP1G1 AP2M1 AP4M1 APC APC2 ARCN1 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARL6IP6 ARMC9 ARPC4 ARSB ARSK ARSL ARVCF ARX ASAH1 ASPH ASPN ASXL1 ASXL2 ASXL3 ATAD1 ATG7 ATL3 ATN1 ATP11A ATP13A2 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATPAF2 ATR ATRIP ATRX AUTS2 B2M B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCORL1 BCR BGN BHLHA9 BICD2 BICRA BIN1 BLM BLTP1 BMP1 BMP15 BMP2 BMP4 BMP6 BMPER BMPR1A BMPR1B BMS1 BNC1 BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BTNL2 BTRC BUB1 BUB1B BUB3 BUD23 C12orf57 C1R C2CD3 CA2 CACNA1C CACNA1G CACNA2D1 CAMK2A CAMK2G CAMSAP1 CAMTA1 CANT1 CAPN3 CARS1 CASK CASR CASZ1 CBFB CBL CBS CBY1 CC2D2A CCBE1 CCDC103 CCDC134 CCDC22 CCDC28B CCDC32 CCDC39 CCDC40 CCDC47 CCDC65 CCDC8 CCDC88A CCN6 CCND2 CCNK CCNO CCNQ CD244 CD247 CD55 CD96 CDAN1 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH1 CDH11 CDH3 CDIN1 CDK10 CDK13 CDKL5 CDKN1C CDT1 CENPE CENPF CENPJ CENPT CEP104 CEP120 CEP152 CEP164 CEP19 CEP290 CEP41 CEP55 CEP57 CERT1 CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP74 CFL2 CFTR CHCHD10 CHD1 CHD2 CHD4 CHD7 CHEK2 CHN1 CHP1 CHRNA1 CHRNA7 CHRND CHRNG CHST11 CHST14 CHST3 CHSY1 CHUK CIBAR1 CIC CIITA CILK1 CITED2 CKAP2L CLCF1 CLCN3 CLCN5 CLCN7 CLIC2 CLIP2 CLP1 CLTCL1 CNOT1 CNOT2 CNOT3 CNTN1 CNTNAP1 CNTNAP2 COA7 COASY COG1 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP COMT COPB1 COX4I1 COX7B CPLANE1 CPLX1 CPT1C CPT2 CRB2 CREB3L1 CREBBP CRIPT CRKL CRLF1 CRPPA CRTAP CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNND1 CTNND2 CTNS CTSC CTSD CTSK CTU2 CUL3 CUL4B CUL7 CWC27 CWF19L1 CYP19A1 CYP26B1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 DACT1 DAG1 DBH DCAF8 DCHS1 DCLRE1C DCPS DDR2 DDRGK1 DDX11 DDX3X DDX59 DDX6 DEAF1 DHCR24 DHCR7 DHODH DHPS DHX30 DKC1 DLEC1 DLG4 DLK1 DLL3 DLL4 DLX3 DLX5 DLX6 DMP1 DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNM1L DNMT3A DOCK3 DOCK6 DOK7 DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPP9 DPYS DPYSL5 DRC1 DSE DSP DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A EBF3 EBP ECE1 ECEL1 EDA EDA2R EDN3 EDNRB EED EFEMP2 EFL1 EFNB1 EFTUD2 EGR2 EHHADH EHMT1 EIF2AK3 EIF2AK4 EIF2S3 EIF4A3 EIF4H EIF5A ELN EMC1 EMG1 EN1 ENG ENPP1 EOGT EP300 EPB41L1 EPS15L1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC6B EXOC7 EXOSC2 EXOSC5 EXOSC9 EXT1 EXT2 EXTL3 EZH2 FAM111A FAM13A FAM149B1 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FAT4 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXL4 FBXO11 FBXO28 FBXW11 FBXW4 FCGR2A FDFT1 FERMT1 FGD1 FGF10 FGF16 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FKBP10 FKBP6 FKRP FKTN FLI1 FLII FLNA FLNB FLT4 FLVCR1 FMR1 FN1 FOXA2 FOXE3 FOXJ1 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FSHR FTO FTSJ1 FUCA1 FZD2 G6PC3 GABBR2 GABRA1 GABRA3 GABRD GABRG2 GALNS GALNT2 GAN GARS1 GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA5 GATA6 GATAD2B GBA1 GBF1 GCH1 GDAP1 GDF1 GDF5 GDF6 GDNF GFM2 GGCX GH1 GHR GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLMN GMNN GNA11 GNAI1 GNAO1 GNAS GNAS-AS1 GNB1 GNB2 GNB4 GNE GNPAT GNPTAB GNPTG GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPX4 GRB10 GRIN1 GRIP1 GRM7 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 H3-3A H3-3B H4C3 H4C5 H4C9 HACD1 HADHA HADHB HARS1 HBA1 HBA2 HBB HCN1 HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HEPACAM HEPHL1 HERC1 HERC2 HES7 HESX1 HEY2 HFE HHAT HIC1 HINT1 HIRA HIVEP2 HLA-DRB1 HMGA2 HNRNPA1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXA11 HOXA13 HOXD10 HOXD13 HPGD HRAS HS2ST1 HS6ST1 HSD17B4 HSPA9 HSPB1 HSPB8 HSPG2 HTT HUWE1 HYAL1 HYDIN HYLS1 HYOU1 IARS1 IARS2 IDH1 IDH2 IDS IDUA IFIH1 IFITM5 IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IGF1 IGF1R IGF2 IGHMBP2 IHH IKBKG IL10 IL11RA IL21 IL2RA IL2RB IL2RG IL6ST IL7R IMPDH2 INF2 INPP5E INPP5K INPPL1 INSR INTS1 INTS8 INTU IPO8 IQCE IQSEC2 IRF6 IRX5 ITCH ITGA7 ITGB4 ITGB6 ITPR3 IYD JAG1 JARID2 JMJD1C JPH1 JUP KANSL1 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KDELR2 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KDR KDSR KIAA0586 KIAA0753 KIAA0825 KIF14 KIF15 KIF1A KIF1B KIF21A KIF22 KIF26A KIF3B KIF5C KIF7 KIFBP KL KLF13 KLHL15 KLHL40 KLHL41 KLLN KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNSTRN KPTN KRAS KRT1 KRT10 KRT14 KRT16 KRT9 L1CAM LAGE3 LAMA3 LAMA5 LAMB3 LAMC2 LARGE1 LARS1 LAS1L LBR LEMD2 LEMD3 LETM1 LFNG LHX3 LHX4 LIFR LIG4 LIMK1 LMBR1 LMNA LMNB2 LMOD3 LMX1B LONP1 LOX LPIN2 LRBA LRP4 LRP5 LRRC56 LRRK1 LRSAM1 LSS LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LYSET LZTFL1 LZTR1 MAB21L2 MACROH2A1 MAD1L1 MAD2L2 MADD MAF MAFB MAGEL2 MALT1 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MARS2 MASP1 MAT2A MATN3 MBD5 MBTPS1 MBTPS2 MCIDAS MCM3AP MCTP2 MECOM MECP2 MED12 MED12L MED13L MED25 MEF2C MEG3 MEGF10 MEGF8 MEIS2 MESP2 MET METTL27 MFAP5 MFN2 MGAT2 MGP MIA3 MID2 MIR140 MIR17HG MITF MKKS MKRN3 MKS1 MLXIPL MMP13 MMP14 MMP2 MMP23B MMP9 MOGS MORC2 MPLKIP MPV17 MPZ MRAS MRPS16 MRPS22 MRPS28 MSH4 MSL3 MSX2 MTAP MTFMT MTHFS MTM1 MTOR MTRR MTX2 MUC5B MUSK MYBPC1 MYCN MYH11 MYH3 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYOD1 MYRF MYSM1 NAA10 NAA20 NALCN NANS NARS1 NARS2 NBAS NBN NCAPG2 NCF1 NCKAP1L NDE1 NDN NDRG1 NDUFAF6 NEB NECTIN1 NECTIN4 NEDD4L NEFL NEK1 NEK10 NEK8 NEK9 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFASC NFIX NFKBIL1 NGLY1 NHP2 NHS NIN NIPBL NKAP NKX2-5 NKX2-6 NKX3-2 NLRP1 NLRP3 NME5 NME8 NOD2 NOG NONO NOP10 NOTCH1 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPM1 NPR2 NPR3 NR2F1 NR4A2 NR5A1 NRAS NRCAM NRTN NSD1 NSD2 NSDHL NSMCE2 NSMF NSUN2 NT5C2 NTNG1 NUP107 NUP133 NUP188 NUP37 NUP85 NUP88 NXN OBSL1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGT OPA3 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B OTX2 P3H1 P4HB P4HTM PACS1 PACS2 PAFAH1B1 PAH PAICS PAK3 PALB2 PAM16 PAPPA2 PAPSS2 PARN PAX1 PAX3 PCDH19 PCDHGC4 PCGF2 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PDXK PDZD8 PEPD PEX1 PEX2 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM3 PHEX PHF21A PHF6 PHF8 PHGDH PHIP PHOX2A PHYH PI4KA PIBF1 PIEZO2 PIGA PIGB PIGF PIGG PIGH PIGK PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PISD PITX1 PKDCC PLAA PLAG1 PLCB3 PLEC PLEKHG5 PLEKHM1 PLK4 PLOD1 PLOD2 PLOD3 PLXND1 PMM2 PMP2 PMP22 PNKP PNPLA6 POC1A POGZ POLA1 POLE POLR1A POLR3A POLR3GL POLR3H POLRMT POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POP1 POR PORCN POU1F1 PPIB PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKD1 PRKDC PRKG1 PRKG2 PRMT7 PROKR2 PROP1 PRR12 PRX PSAP PSAT1 PSMB4 PSMB8 PSMB9 PSMC3IP PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN2 PTPN22 PTRH2 PUF60 PUM1 PURA PUS3 PWAR1 PWRN1 PYCR1 PYCR2 PYROXD1 QRICH1 RAB11B RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAB7A RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALA RAPSN RASA1 RASA2 RASGRP1 RB1 RBBP8 RBM10 RBM8A RBPJ RDH11 RECQL RECQL4 REEP1 RELN RERE RET RETREG1 REV3L RFC2 RFT1 RFWD3 RFX7 RHBDF2 RHOA RIGI RIN2 RINT1 RIPK4 RIPPLY2 RIT1 RLIM RMRP RNF113A RNF13 RNF2 RNF216 RNF6 RNU12 RNU4ATAC ROBO1 ROR2 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL13 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RXYLT1 RYR1 RYR3 SACS SALL1 SALL4 SAMD9 SATB1 SATB2 SBDS SBF1 SBF2 SC5D SCAPER SCARF2 SCLT1 SCN1A SCN1B SCN2A SCN4A SCN9A SCNM1 SCNN1A SCNN1B SCNN1G SCUBE3 SCYL2 SDCCAG8 SDHB SDHC SDHD SEC23B SEC24C SEC24D SELENON SEM1 SEMA3C SEMA3D SEMA3E SEMA5A SERPINF1 SERPINH1 SETBP1 SETD1B SETD2 SETD5 SF3B2 SF3B4 SFRP4 SFTPA1 SFTPA2 SFTPB SFTPC SGMS2 SH2B1 SH3PXD2B SH3TC2 SHANK3 SHH SHMT2 SHOC2 SHOX SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIN3B SKI SKIC3 SLC10A7 SLC12A2 SLC12A6 SLC16A2 SLC17A5 SLC18A3 SLC22A4 SLC25A12 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC31A1 SLC32A1 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35A3 SLC35B2 SLC35C1 SLC35D1 SLC39A13 SLC39A8 SLC52A2 SLC5A5 SLC5A6 SLC6A1 SLC6A17 SLC6A9 SLC9A6 SLC9A7 SLCO2A1 SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMC5 SMG9 SMO SMOC1 SMPD4 SMS SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SNX14 SOD1 SON SOS1 SOS2 SOST SOX11 SOX4 SOX5 SOX6 SOX9 SP7 SPAG1 SPARC SPART SPECC1L SPEF2 SPEG SPEN SPIDR SPOP SPRED1 SPRED2 SPRTN SPTBN1 SRCAP SREBF1 SRP54 SRY SSR4 STAG1 STAG2 STAMBP STAT4 STK11 STK36 STN1 STUB1 STX16 STX1A STX1B STXBP1 SUCLG1 SUFU SUMF1 SUPT16H SUZ12 SVBP SVIL SYNE1 SYNGAP1 SYT1 SYT2 TAF1 TAF6 TAPT1 TARS1 TASP1 TBC1D24 TBC1D2B TBC1D7 TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX5 TBXAS1 TCF12 TCF20 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TDO2 TELO2 TENT5A TERC TERT TFAP2A TFAP2B TFE3 TG TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THOC6 THSD4 TINF2 TLK2 TLL1 TMCO1 TMEM107 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM38B TMEM53 TMEM67 TMEM70 TMEM94 TNFRSF11A TNFRSF11B TNFSF11 TNNI2 TNNT3 TOGARAM1 TONSL TOPORS TOR1A TOR1AIP1 TP53 TP53RK TP63 TPM2 TPM3 TPO TPR TPRKB TRAF3IP1 TRAF7 TRAIP TRAPPC2 TRAPPC9 TREX1 TRIM32 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRMT10A TRMT5 TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSHB TSHR TSR2 TTC12 TTC21B TTC26 TTC8 TTI2 TTN TUBA1A TUBB TUBB2B TUBB3 TWIST1 TWIST2 TXNDC15 TXNL4A TYMS UBA1 UBA2 UBE2A UBE2T UBE3A UBE3B UBE3C UBE4B UBR1 UBR7 UFC1 UFD1 UFSP2 UGP2 UNC45A UNC80 UPF3B UQCC2 USB1 USF3 USP7 USP9X VAC14 VCP VDR VPS13B VPS33A VPS35L VPS37D VPS51 WAC WASF1 WASHC5 WDPCP WDR11 WDR19 WDR26 WDR35 WDR4 WDR62 WDR73 WDR81 WFS1 WIPI2 WLS WNK1 WNT10B WNT4 WNT5A WNT7A WRAP53 WRN WWOX XRCC2 XRCC4 XYLT1 XYLT2 YRDC YWHAE YY1 YY1AP1 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC1 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF141 ZNF292 ZNF407 ZNF423 ZNF462 ZNF469 ZNF668 ZNF699 ZNHIT3 ZPR1 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION ABCA1 ABCA2 ABCG5 ABCG8 ALB ALG6 ALMS1 ANGPTL3 APOA1 APOA2 APOA5 APOB APOC2 APOC3 APOE B4GALT1 CCDC115 CELA2A CEP19 CETP CREB3L3 CYP7A1 DYRK1B EMD EPHX2 FDFT1 FHL1 GALNT2 GHR GPIHBP1 LCAT LDLR LDLRAP1 LIPA LIPC LMNA LPL LRP6 MSMO1 MTTP NGLY1 PANK2 PCSK9 PPARG PPP1R17 PSMB8 SAR1B SLC25A13 SLC7A7 SMPD1 SYNE1 SYNE2 TMEM199 TMEM43 TTPA UBR1 HP_ABNORMALITY_OF_LOWER_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_EYELASHES GJA5 GJA8 SF3B4 TCOF1 TWIST2 HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY ACAN ADAMTS2 ADAMTSL2 AIFM1 ARSL ATP7A B3GALT6 BRF1 CANT1 CCN6 CDC6 CHST3 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREBBP CSPP1 DLK1 DNAJC21 DUOX2 DUOXA2 DVL1 DVL3 DYM EFL1 EIF2AK3 EP300 EXT1 EXTL3 FN1 FZD2 GLB1 GNPTG HESX1 HS2ST1 HSPG2 IFT140 IHH INPP5K IYD KIAA0586 KIF22 LHX3 LHX4 MATN3 MEG3 NEK9 PCNT PEX5 PIK3C2A PLOD3 POU1F1 PROP1 RAB3GAP2 RAD21 RET RINT1 RNU4ATAC RPL13 RSPRY1 RTL1 SBDS SIL1 SKIC3 SLC26A2 SLC2A10 SLC39A13 SLC5A5 SMARCAL1 SRCAP SRP54 TBC1D2B TBX4 TG TINF2 TONSL TPO TRAPPC2 TREX1 TRPS1 TRPV4 TSHB TSHR UFSP2 UNC45A WNT5A HP_ABNORMALITY_OF_LOWER_LIMB_JOINT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT AARS1 ABCC6 ABCC9 ABCD1 ACAN ACTA1 ADAMTS2 ADAMTSL2 ADGRG1 ADGRV1 ADNP AEBP1 AFF3 AFF4 AGRN AIFM1 AKT1 ALAD ALDH18A1 ALG14 ALG2 ALG9 ANAPC1 ANGPT2 ANKLE2 ANKRD55 ANO10 ANO5 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARF1 ARFGEF2 ARID1B ARL6IP1 ARNT2 ARSB ARSK ARVCF ASAH1 ATAD1 ATL1 ATP5F1D ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRX B3GALT6 B3GAT3 B4GALT7 BAG3 BAZ1B BCL7B BCOR BGN BHLHA9 BICD2 BICRA BIN1 BMP1 BMPR1B BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUD23 C12orf57 C18orf32 C19orf12 CAMK2A CANT1 CAPN1 CAPN3 CARS1 CBFB CBS CCDC47 CCDC8 CCDC88C CCN6 CD247 CD40LG CD96 CDC45 CDC6 CDON CDT1 CENPJ CENPT CEP120 CEP85L CFL2 CHAT CHD4 CHMP1A CHRM3 CHRNB1 CHRNG CHST11 CHST3 CHSY1 CLCN3 CLCN5 CLCN7 CLIP2 CLTCL1 CNTNAP1 COG1 COG5 COL10A1 COL11A1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP COMT COX11 COX8A CPLX1 CPT2 CREBBP CRTAP CSGALNACT1 CSPP1 CTBP1 CTC1 CTDP1 CTNS CUL7 CYP19A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7B1 DAG1 DDR2 DDRGK1 DHCR7 DHODH DHX16 DISP1 DLL1 DMD DMP1 DNAJC21 DNAJC30 DNMT3A DONSON DPAGT1 DPM1 DPYSL5 DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2LI1 DYNLT2B DYRK1A DYSF EBP ECEL1 EFEMP2 EFL1 EIF2AK3 EIF4A3 EIF4H ELN EMD ENPP1 EP300 ERCC1 ERCC4 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC6B EXOSC3 EXT1 EXT2 EXTL3 EYA1 EZH2 F8 FA2H FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBLN5 FBN1 FBN2 FDFT1 FGD1 FGF13 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP6 FKRP FLI1 FLNA FLNB FLNC FLT4 FN1 FOXH1 FUT8 FZD2 GABRA1 GABRD GABRG2 GALC GALNS GAN GARS1 GAS1 GATA1 GBA2 GDF5 GDF6 GEMIN4 GET4 GFM2 GFPT1 GJA1 GJB2 GJB6 GJC2 GLB1 GLI1 GLI2 GLI3 GLRA1 GLRB GMNN GMPPB GNB2 GNPTAB GNPTG GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPX4 GRIA3 GSC GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HACD1 HACE1 HBB HCN1 HDAC4 HDAC8 HEATR3 HERC2 HGD HIRA HK1 HNRNPH1 HOXA11 HOXD13 HPGD HPRT1 HRAS HS2ST1 HS6ST1 HSPG2 HTT HYAL1 IARS2 IDH1 IDUA IFIH1 IFT172 IFT52 IFT57 IHH IL2RA IL2RB IL6ST INPP5K INPPL1 IPO8 ITGA7 JAG2 JMJD1C KANSL1 KAT6A KAT6B KDM6A KIAA0586 KIAA0753 KIF1A KIF1C KIF22 KIF5A KIF7 KLC2 KLHL41 KLHL9 KMT2D KPNA3 KRAS KRT5 KY LAMA5 LAMB2 LARGE1 LBR LETM1 LGI4 LIFR LIMK1 LMBR1 LMBRD2 LMNA LMNB2 LMOD3 LMX1B LONP1 LRP4 LTBP1 LYSET MAB21L2 MACF1 MAD2L2 MAFB MAGEL2 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK8IP3 MARS1 MASP1 MATN3 MBTPS2 MCOLN1 MCTP2 MEFV MEGF10 MEGF8 METTL27 MFN2 MIA3 MKKS MKRN3 MLXIPL MMP13 MMP2 MMP9 MPZ MTX2 MUSK MYH3 MYH8 MYL1 MYL11 MYL2 MYO18B MYO9A MYOT NAA10 NALCN NANS NCF1 NDUFAF6 NDUFS8 NEB NEDD4L NEPRO NF1 NFATC2 NFIX NGLY1 NIPA1 NIPBL NKX3-2 NLRP3 NODAL NOG NONO NOTCH2 NPAP1 NRAS NRCAM NSD1 NSD2 NSDHL NT5C2 NTRK1 OBSL1 OCA2 OCRL OFD1 ORAI1 ORC1 ORC4 ORC6 OSGEP OSTM1 P4HTM PAFAH1B1 PALB2 PAM16 PCDH19 PDGFRB PEPD PEX16 PHEX PI4KA PIEZO1 PIEZO2 PIGA PIGL PIGT PIGY PIK3R2 PITX1 PKDCC PLA2G6 PLCH1 PLOD1 PLOD2 PMP22 PNPT1 POLR1A POLR3A POLR3B POLRMT POMT1 POMT2 POR PORCN POU3F4 PPP2R5D PRG4 PRKACA PRKACB PRKG2 PRMT7 PRR12 PSAP PSAT1 PSMD12 PSTPIP1 PTCH1 PTDSS1 PTEN PTH1R PTPN2 PTPN22 PTRH2 PUF60 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 RAB18 RAB23 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RBM8A RECQL4 REEP1 RETREG1 RFC2 RFWD3 RINT1 RMRP RNU12 RNU4ATAC RPGRIP1L RPL10 RPL13 RPS15A RREB1 RSPRY1 RTN2 RTTN RUNX2 RYR1 RYR3 SALL1 SAMD9L SATB2 SCARF2 SCN1A SCN1B SCN2A SCN4A SCN9A SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC31A SELENOI SELENON SERPINF1 SERPINH1 SETD2 SF3B2 SF3B4 SFRP4 SGCA SH3PXD2B SHH SHOX SHROOM4 SIK3 SIL1 SIX1 SIX3 SKI SLC10A7 SLC12A2 SLC16A2 SLC18A3 SLC1A4 SLC25A1 SLC25A46 SLC26A2 SLC2A10 SLC34A3 SLC35A2 SLC35A3 SLC35B2 SLC35D1 SLC39A14 SLC39A8 SLC52A3 SLC5A7 SLC6A5 SLC6A9 SLCO2A1 SLX4 SMAD2 SMAD3 SMARCAL1 SMC1A SMC3 SMG9 SMO SMOC1 SNAP25 SNORD115-1 SNORD116-1 SNRPB SOD1 SOX9 SPARC SPART SPAST SPEG SPG11 SPTBN1 SPTBN2 SPTBN4 SRD5A3 STAG2 STAT4 STIL STUB1 STX1A STX1B STXBP1 SVIL SYNE1 SYT2 TBC1D7 TBCD TBL2 TBX1 TBX15 TBX4 TCEAL1 TCTN3 TDGF1 TELO2 TFE3 TGDS TGFB1 TGFB2 TGFBR2 TGIF1 THOC2 THRA TIMM22 TIMM8A TMEM270 TMEM67 TMTC3 TNFRSF1A TNFSF11 TNNI2 TNNT1 TNNT3 TONSL TOR1A TOR1AIP1 TPM2 TPM3 TRAPPC12 TRAPPC2 TRIM2 TRIM8 TRIP11 TRPS1 TRPV4 TTC26 TTN TUBB3 UBA1 UBA2 UBE2T UBE3A UBE3B UBR7 UCHL1 UFC1 UFD1 UFSP2 UGP2 UNC80 USP9X VAC14 VAMP1 VARS1 VCP VDR VPS13B VPS33A VPS37D WASF1 WDR19 WDR35 WDR62 WNK1 WNT5A WNT7A XRCC2 XYLT1 YWHAE YY1 ZBTB20 ZC4H2 ZEB2 ZFYVE27 ZIC2 ZIC3 ZMPSTE24 ZNF407 ZNF469 ZNF699 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM ASAH1 CA2 CLCN7 GNPTAB LRP5 OCRL PSAP TNFRSF11B HP_ABNORMALITY_OF_MACULAR_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION ABCA4 ADAR APOE CACNA1F CDH3 CFAP418 CFH CFHR1 CFHR3 CFI CHM CLN3 CNGB3 CRLS1 CRX CTNNA1 EFEMP1 ELOVL4 HARS1 HMCN1 IFT74 IMPDH1 IMPG1 LCA5 LRAT MAK MC1R MFSD8 MMACHC NMNAT1 OCA2 OPN1LW OPN1MW PAX2 PCYT1A PROM1 PRPH2 RAB28 RAX2 RD3 RP2 RPE65 SLC38A8 SPATA7 TLCD3B TMCO1 VPS13B HP_ABNORMALITY_OF_MASSETER_MUSCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MASSETER_MUSCLE CACNA1S GIPC1 LRP12 NOTCH2NLC RILPL1 RYR1 HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY CHST14 CISD2 DSE TMEM94 WFS1 HP_ABNORMALITY_OF_MOUTH_SHAPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SHAPE ABCC8 ABL1 ADAM22 AFF3 AFF4 AGO2 AHI1 AKT1 ALX4 ANKLE2 AP1S2 ASH1L ASXL3 ATN1 ATP1A2 ATP1A3 ATP6V1B2 ATRX BAP1 BCAS3 BRAF BRD4 BRPF1 BUB1B CACNA1A CACNA1C CACNA1I CAMTA1 CCDC174 CCDC47 CCDC88A CDC42 CDH11 CDK13 CDK5 CHAMP1 CHD8 CHRNG CLTC CNOT3 COLEC10 COLEC11 COLQ CPLX1 CSNK2B CTBP1 DCHS1 DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DHX30 DHX37 DIS3L2 DLK1 DNAJC21 DPF2 DPH5 DPYD DST DVL1 DVL3 EBF3 EBP ECEL1 EEF1A2 EHMT1 EIF2S3 ELN ERCC2 ESS2 EXT2 EXTL3 FAM149B1 FAT4 FBXO11 FGFRL1 FLII FOXP1 FZD2 GBA1 GCK GFM2 GK GMPPA GNB2 GPC4 GRB10 GRIA3 GTPBP2 H3-3A H4C11 H4C5 HACE1 HDAC4 HDAC8 HERC2 HMGA2 HNRNPK HOXB1 HRAS HS6ST2 HSPG2 IGF2 IL1RAPL1 INPP5E INS INTS1 IQSEC2 KANSL1 KAT6A KAT8 KCNH1 KCNJ11 KCNJ6 KCNK9 KCNMA1 KDM1A KDM4B KIAA0753 KIF15 KIF1A KIF7 KMT2D LAMA2 LAMB2 LEMD3 LETM1 LIFR LMBR1 MAFB MAGEL2 MASP1 MBD5 MED12 MED12L MED13L MEF2C MEG3 MGAT2 MKRN3 MLXIPL MSL3 MTOR MYH3 MYL11 MYMX NALCN NARS2 NCAPG2 NDN NELFA NEXMIF NFIX NGLY1 NIPBL NKAP NOG NONO NOTCH2 NOVA2 NPAP1 NRAS NSD2 NTNG2 NXN OCA2 OCRL OGT PACS1 PACS2 PAK3 PARS2 PCGF2 PCLO PDE4D PDX1 PDZD8 PGAP2 PGAP3 PHF21A PIGA PIGF PIGG PIGL PIGN PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3R1 PLOD3 PLXND1 POGZ POLA1 POLR3A POLRMT POMT2 PPP1CB PPP1R15B PPP2R1A PPP2R5D PRKAR1A PRKAR1B PRR12 PURA PUS7 PWAR1 PWRN1 RAB18 RAC1 RAD21 RAI1 REV3L RLIM RNU4ATAC ROR2 RPS23 RPS6KA3 RTL1 SC5D SCN4A SCNM1 SETBP1 SETD5 SF3B2 SHMT2 SIM1 SIN3A SLC1A3 SLC35A2 SLC6A8 SLC9A6 SMARCD1 SMC1A SMC3 SMC5 SNORD115-1 SNORD116-1 SNRPN SON SOX11 SOX5 SRCAP STAC3 STAT3 STRADA TASP1 TBC1D24 TBL1XR1 TBX1 TCF20 TCF4 TELO2 TET3 TFAP2B TFE3 TMEM237 TRAPPC9 TRIP12 TRMT10A TUBB4A TWIST2 UBE2A UBR1 UNC80 VPS13B WAC WDR37 WDR4 WNT5A ZBTB20 ZC4H2 ZEB2 ZMYM2 ZNF407 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_MOUTH_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SIZE ABCC9 ACTB ACTG1 ACTL6B ADAMTS3 ADAMTSL2 ADAT3 ADNP ADSL AFF3 AGA AKT1 AKT3 ALDH18A1 ALG9 AMMECR1 ANKRD11 AP1S2 AP2M1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARID1A ARID1B ARID2 ARVCF ASXL1 ASXL3 ATAD3A ATIC ATP10A ATP6V0A2 ATP6V1B2 ATP6V1E1 ATPAF2 ATRX AUTS2 B3GAT3 B3GLCT B4GALT7 BAZ1B BBS7 BCL11B BCL7B BCR BIN1 BMP2 BMPR1A BPNT2 BPTF BRPF1 BUD23 CA2 CACNA1C CAMK2A CAMTA1 CANT1 CASZ1 CAV1 CCBE1 CCDC47 CCND2 CD96 CDC42 CDC42BPB CDC45 CDC6 CDK13 CDK19 CDT1 CENPF CENPT CEP57 CHD2 CHD7 CHRNG CHST14 CHST3 CHSY1 CLCF1 CLCN3 CLIP2 COG1 COG7 COL11A1 COL11A2 COL2A1 COL3A1 COL7A1 COMT CREBBP CRKL CRLF1 CTCF CUL4B DACT1 DCHS1 DCPS DDB1 DDX11 DHCR24 DHCR7 DLK1 DNAJC30 DONSON DPF2 DPYD DPYSL5 DSE DVL1 ECEL1 EDN1 EIF4A3 EIF4H ELN EP300 ERLIN2 EXOSC5 EXTL3 FAM20C FAT4 FBN1 FBXO11 FGFR2 FKBP6 FLCN FLNA FOXP2 FREM2 GABRA3 GABRD GALNS GATAD2B GBA1 GJA1 GLB1 GMNN GNAI3 GNB2 GNPTAB GNS GP1BB GPC3 GPC4 GRB10 GSC GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C11 H4C3 H4C5 HDAC6 HEATR3 HECTD4 HECW2 HIRA HIVEP2 HNRNPH2 HS2ST1 HSPG2 HUWE1 IARS2 IDUA IFT140 IGF1R INSR IRX5 ITGA3 JMJD1C KARS1 KAT5 KAT6A KATNB1 KCNAB2 KCNH1 KCNJ8 KCNK4 KCNMA1 KCNN3 KDM3B KDM6B KIF15 KIF7 KLHL15 KMT2B LARP7 LEMD2 LGI3 LIG4 LIMK1 LMNA LMX1B LTBP3 LUZP1 MADD MAF MAP2K1 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MBD5 MCM5 MDM2 MECP2 MED12 MED12L MED13 MED13L MEG3 METTL27 MGAT2 MIPEP MKS1 MLXIPL MMP1 MMP23B MTOR MTX2 MUSK MYBPC1 MYH3 MYL11 MYT1L NALCN NCF1 NEB NEDD4L NEXMIF NFIA NFIX NMNAT1 NONO NOTCH2 NR2F1 NRXN1 NSUN2 NXN OCA2 ORC1 ORC4 ORC6 OSGEP OTX2 PACS1 PACS2 PAFAH1B1 PAX3 PCGF2 PDPN PGAP1 PGAP2 PHACTR1 PIEZO2 PIGA PIGB PIGF PIGL PIGN PIGU PIK3CA PIK3R2 PLCB4 PMM2 POGZ POLA1 POLD1 POLR1B POLR1C POLR1D POLR3A POR POU4F1 PPM1D PPP1R15B PQBP1 PRDM16 PRKCZ PRPS1 PRRX1 PSPH PTCH1 PTDSS1 PTEN QRICH1 RAB3GAP1 RAF1 RAI1 RALGAPA1 RECQL4 RERE RFC2 RIPK4 RLIM RNF113A RNF125 RNF2 RNU12 ROR2 RPL10 RPS6KA3 RREB1 RSPO2 RTL1 RTTN RYR1 SALL1 SATB2 SCARF2 SCN1A SCNM1 SCYL2 SEC23A SEC24C SEMA3E SEPTIN9 SET SETBP1 SETD1A SF3B2 SF3B4 SH2B1 SH3PXD2B SIN3A SKI SKIC3 SLC12A2 SLC25A24 SLC2A1 SLC6A1 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMS SNIP1 SNRPN SON SOS1 SOX11 SOX4 SOX6 SOX9 SP7 SPEG SPEN SPRED2 SRCAP SSR4 STAG1 STRADA STX1A STXBP1 SUPT16H SYNGAP1 TAF6 TALDO1 TASP1 TBC1D20 TBL2 TBX1 TBX4 TCF4 TCOF1 TGDS THUMPD1 TLK2 TMCO1 TMEM147 TMEM270 TMEM67 TMEM70 TMLHE TNNI2 TNNT3 TP63 TPM2 TRIO TRIP12 TRIP4 TRMT10A TRMT5 TRPM3 TRRAP TTN TUBB TWIST1 TWIST2 TXNL4A UBE2A UBE3A UBE3B UBE4B UFC1 UFD1 VPS37D WAC WDR4 WDR73 WLS WNT3 YWHAE ZBTB20 ZMIZ1 ZMPSTE24 ZMYND11 ZNF148 ZNF526 ZNF699 ZSWIM6 HP_ABNORMALITY_OF_MULTIPLE_CELL_LINEAGES_IN_THE_BONE_MARROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MULTIPLE_CELL_LINEAGES_IN_THE_BONE_MARROW ACD ACP5 ADA2 ADH5 ALPK1 AMN ANAPC1 ASXL1 ATR BACH2 BCOR BRCA2 BRIP1 CA2 CALR CASP10 CBL CD27 CIITA CLCN7 CLPB COG6 COQ2 CTC1 CUBN CXCR4 DCLRE1B DDX41 DHFR DKC1 DNAJC21 DNASE2 DPP9 DUT EFL1 ELANE ERCC4 ERCC6L2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FARSB FAS FASLG FIP1L1 FLI1 GATA1 GATA2 GBA1 GFI1 GFI1B GNAS HAVCR2 HLA-DRB1 HOXA11 IFIH1 IFNG IKZF1 IRF2BP2 ITCH ITK IVD JAK2 KIT KRAS LBR LIG4 LMBRD1 LRBA LYST MAD2L2 MAN2B1 MDM4 MMAA MMAB MMADHC MPIG6B MPL MRPS7 MTHFD1 MTRR MYSM1 NABP1 NAXD NBEAL2 NBN NHP2 NLRC4 NOP10 NPM1 NRAS NUMA1 OSTM1 PALB2 PARN PCCA PCCB PGM3 PIGA PML PRF1 PRKAR1A PRKCD PSTPIP1 PTPRC RAB27A RAC2 RAD51 RARA RASGRP1 RECQL4 RFX5 RFXANK RFXAP RNASEH2A RPA1 RPL26 RPS14 RTEL1 RUNX1 SAMD9 SAMD9L SARS2 SBDS SCARB2 SF3B1 SH2B3 SH2D1A SHOC2 SLC46A1 SLC7A7 SLX4 SMARCAL1 SP110 SRC SRP19 SRP54 SRP72 SRSF2 STAT3 STAT5B STN1 STX11 STXBP2 TALDO1 TBL1XR1 TBXAS1 TCF3 TCIRG1 TCN2 TERC TERT TET2 TGFB1 TINF2 TLR8 TNFRSF4 TNFRSF9 TNFSF11 TP53 TYMS UBE2T UNC13D USB1 VPS33A WDR19 WRAP53 XIAP XRCC4 ZBTB16 ZCCHC8 ZNF699 HP_ABNORMALITY_OF_MUSCLE_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MUSCLE_SIZE AARS1 ABCA1 ABCC8 ABHD12 ACADM ACADSB ACTA1 ACTB ACTN2 ADARB1 ADCY6 ADK ADSL ADSS1 AFF4 AFG3L2 AGA AGL AGPAT2 AGRN AGTPBP1 AIFM1 AIMP1 AIP AK9 AKT1 ALDH18A1 ALG3 ALG6 ALG8 ALG9 ALS2 AMPD1 AMPD2 ANG ANO5 ANTXR2 ANXA11 AP1S2 APTX AR ARCN1 ARID1A ARL6 ARMC5 ARSB ARSI ASAH1 ASCC1 ATAD3A ATL1 ATL3 ATM ATP13A2 ATP1A1 ATP2A1 ATP6V0A2 ATP6V1B2 ATP7A ATP8A2 ATRX ATXN1 ATXN2 ATXN3 B3GALNT2 B4GALNT1 B4GALT7 B4GAT1 BAG3 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICD2 BIN1 BMP1 BRAF BSCL2 BUD23 BVES C19orf12 C2orf69 C9orf72 CA8 CADM3 CAPN1 CAPN3 CARS1 CAV1 CAV3 CAVIN1 CCDC115 CCDC47 CCNF CCT5 CD28 CD59 CDCA7 CDH23 CDKN1C CEP126 CEP19 CEP290 CFAP410 CFAP418 CHAT CHCHD10 CHMP2B CHN1 CHP1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CIDEC CIZ1 CLCN1 CLIP2 CNBP CNTNAP1 COA7 COASY COG7 COG8 COL12A1 COL13A1 COL25A1 COL2A1 COL4A1 COL6A1 COL6A2 COL6A3 COL7A1 COLEC11 COLQ COMP COQ2 CPLANE1 CPSF3 CPT1A CPT1C CRPPA CTLA4 CTNS CUL4B CYP27A1 CYP7B1 DAG1 DALRD3 DAO DARS2 DCAF8 DCTN1 DES DGUOK DHH DHTKD1 DHX16 DIAPH1 DLK1 DMD DNA2 DNAJB2 DNAJC19 DNAJC30 DNM1L DNM2 DNMT3B DOK7 DPM3 DUOX2 DUOXA2 DUX4 DUX4L1 DVL1 DYNC1H1 DYSF EGR2 EHMT1 EIF4H ELN EMD ENTPD1 EPHA4 ERBB3 ERBB4 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 EXOSC3 EXOSC8 EXOSC9 FAM111B FARS2 FBLN5 FBN2 FBXL4 FBXO38 FDX2 FGD4 FHL1 FIBP FIG4 FITM2 FKBP14 FKBP6 FKRP FKTN FLNA FLNC FLRT1 FLVCR1 FLVCR2 FOS FOXE1 FOXG1 FOXP2 FRG1 FUCA1 FUS FXN GAA GAN GARS1 GATA1 GBA2 GBE1 GBF1 GDAP1 GFPT1 GIPC1 GJB1 GLB1 GLE1 GLT8D1 GMPPB GNAS GNB4 GNE GNPTAB GNS GPC3 GPC4 GPR101 GPR35 GRIA3 GTF2I GTF2IRD1 GTF2IRD2 GUSB GYG1 H4C11 HACD1 HARS1 HBB HELLS HESX1 HEXB HINT1 HK1 HMGA2 HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPK HRAS HS2ST1 HSPB1 HSPB3 HSPB8 HSPG2 HUWE1 HYCC1 HYMAI IBA57 IDS IDUA IFRD1 IFT140 IFT172 IFT27 IFT74 IGF2 IGHMBP2 IL6ST INF2 INPP5E INPP5K INSR IPO8 ISCU ITGA7 ITPR3 IYD JAG1 JAG2 JPH1 KANSL1 KAT6A KBTBD13 KCNA1 KCNH1 KCNJ11 KCNK9 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KDM5C KIF1A KIF1B KIF1C KIF21A KIF5A KLC2 KLHL40 KLHL41 KLHL9 KLLN KRT14 KRT5 KY LAMA2 LAMB2 LAMP2 LARGE1 LDB3 LEMD3 LETM1 LHX3 LHX4 LIMK1 LIMS2 LIPE LITAF LMNA LMNB2 LMOD3 LMX1B LRP12 LRP4 LRSAM1 LTBP4 LZTFL1 MAFB MAG MAN2B1 MAN2C1 MAP3K20 MAP3K7 MARS1 MATR3 MB MBD5 MCCC2 MDH2 MECP2 MED13L MED25 MEG3 MEGF10 METTL27 MFN2 MGME1 MICU1 MINPP1 MKKS MKS1 MLIP MLXIPL MME MORC2 MPV17 MPZ MRE11 MST1 MSTN MSTO1 MT-ATP8 MT-TE MT-TL1 MTAP MTMR14 MTMR2 MTRFR MUSK MYBPC1 MYF6 MYH14 MYH3 MYH7 MYL2 MYMK MYMX MYO9A MYOD1 MYOT MYPN NAGA NALCN NARS2 NBN NCF1 NDE1 NDRG1 NDUFA12 NDUFA8 NDUFA9 NDUFAF6 NDUFB8 NDUFS2 NDUFS4 NEB NEFH NEFL NEK1 NEK9 NEMF NEU1 NEXMIF NGLY1 NIPA1 NKX2-1 NKX2-5 NOP56 NOTCH2NLC NPHP1 NPPA NR3C1 NT5C2 NUP88 OGDH OPA1 OPTN PAX7 PAX8 PDK3 PDXK PEX1 PEX10 PEX5 PEX6 PEX7 PFKM PFN1 PGAP1 PHF6 PHKA1 PHKA2 PHKB PHKG2 PHYH PIEZO2 PIGA PIGS PIGW PIK3C2A PIK3CA PIK3R2 PIK3R5 PIP5K1C PLAGL1 PLEC PLEKHG5 PLIN1 PLOD3 PLP1 PLXND1 PMP2 PMP22 PNKP PNPLA2 PNPLA6 PNPT1 POGLUT1 POLG POLR2A POLR3A POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 PON1 PON2 PON3 POP1 POPDC3 POU1F1 PPARG PPARGC1A PQBP1 PRKAG2 PROP1 PRPH PRPS1 PRUNE1 PRX PSMB8 PSMG2 PTEN PTRH2 PUS1 PYCR2 PYGM PYROXD1 RAB7A RAI1 RAPSN RASA1 RBCK1 RBM28 RBM8A RECQL REEP1 RETREG1 REV3L RFC2 RILPL1 RMRP RNASEH1 RNF125 RNF170 ROR2 RPS6KA3 RRM2B RTL1 RTN2 RXYLT1 RYR1 RYR3 SACS SALL4 SBF1 SBF2 SCAPER SCLT1 SCN4A SCN5A SCN9A SCO2 SCYL1 SCYL2 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SELENON SEMA4D SEPTIN9 SETBP1 SETX SFXN4 SGCA SGCB SGCD SGCG SH3TC2 SHOX SIGMAR1 SIL1 SLC12A6 SLC16A2 SLC18A3 SLC25A1 SLC25A19 SLC25A21 SLC25A4 SLC25A46 SLC26A4 SLC33A1 SLC39A13 SLC46A1 SLC52A2 SLC52A3 SLC5A5 SLC5A6 SLC5A7 SLC7A7 SLC9A6 SMAD4 SMARCA4 SMARCB1 SMCHD1 SMN1 SMN2 SMPD1 SNAP25 SNIP1 SNRPN SNX14 SOD1 SOX10 SPART SPAST SPEG SPG11 SPRTN SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRY STAC3 STAT1 STIM1 STING1 STT3A STUB1 STX1A SUCLA2 SUCLG1 SURF1 SVBP SYNE1 SYNE2 SYT2 TAF15 TARDBP TBC1D23 TBCD TBCE TBCK TBK1 TBL2 TBX3 TBX5 TCAP TCF4 TDP1 TFG TG TGFB1 THRA TIA1 TIMM8A TIMMDC1 TK2 TMEM270 TMEM43 TMTC3 TNFRSF1B TNNT1 TNR TNXB TOE1 TOR1AIP1 TP53 TPI1 TPM2 TPM3 TPO TRAF3IP2 TRAPPC11 TREM2 TRIM2 TRIM32 TRIP4 TRMU TRPV4 TSHB TSHR TTC19 TTC8 TTN TTPA TUBA1A TUBB2B TWNK TYMP UBA1 UBAP1 UBE3A UBQLN2 UNC13A UNC45B USF3 USP48 USP8 VAMP1 VAPB VCP VLDLR VMA21 VPS13A VPS13D VPS33A VPS37D VRK1 VWA1 WARS1 WARS2 WASHC5 WDPCP WDR81 WNK1 WNT5A WRN YARS1 YARS2 YY1 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZFP57 ZFYVE26 HP_ABNORMALITY_OF_NAIL_COLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NAIL_COLOR ABCA12 ATP2A2 ATR CAST DSC3 DSG1 DSP FOXC2 GJA1 GJB2 KANK2 KIF11 PEX1 PEX6 PLCD1 RNU4ATAC STK11 TRPS1 HP_ABNORMALITY_OF_NEURONAL_MIGRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEURONAL_MIGRATION ACTB ACTG1 ADAMTS3 ADD3 ADGRG1 ADGRL1 AHDC1 AHI1 AIPL1 AKT1 AKT3 ALDH6A1 ALG11 ALG12 ANKLE2 ANKRD11 APC2 ARF1 ARFGEF2 ARHGAP31 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARX ASCC1 ASNS ASPM ASXL1 ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATXN2 B3GALNT2 B4GAT1 B9D1 B9D2 BICD2 BLTP1 BMPER C2CD3 CAMSAP1 CAMTA1 CASK CBY1 CC2D2A CCBE1 CCDC22 CCDC88A CCND2 CDC40 CDH2 CDK5 CDK5RAP2 CDK6 CDKL5 CDON CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP290 CEP41 CEP63 CEP85L CILK1 CIT CLP1 CNTNAP2 COG6 COL18A1 COL25A1 COL3A1 COL4A1 COL4A2 COPB2 CPLANE1 CPLX1 CPT2 CRADD CRB1 CRB2 CRPPA CRX CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTNNA2 CTU2 CUL4B DAG1 DCHS1 DCX DEPDC5 DHCR24 DHCR7 DHX16 DHX37 DISC1 DISP1 DLK1 DLL1 DMXL2 DOCK6 DONSON DPF2 DPYSL5 DYNC1H1 DYNC1I2 DYRK1A EIF2AK2 EML1 EOMES EPG5 ERCC1 ERMARD ETFA ETFB ETFDH EXOC7 EXOSC5 FAM149B1 FAT4 FBXO28 FDFT1 FGF8 FGFR3 FH FIG4 FKRP FKTN FLI1 FLNA FLVCR2 FMR1 FOXG1 FOXH1 FRAS1 FRMD5 FTO GAS1 GDF6 GFM2 GGT1 GLI2 GLS GMNN GMPPB GNAO1 GNB1 GON7 GPHN GPSM2 GPX4 GRIN1 GRM7 GUCY2D HIC1 HNRNPK HSD17B4 HYLS1 IBA57 IER3IP1 IFT140 IFT74 IMPDH1 INPP5E INTS8 IQCB1 ISCA1 JAM2 KANSL1 KAT5 KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNJ13 KIAA0586 KIAA0753 KIF11 KIF14 KIF21A KIF26A KIF2A KIF5C KIF7 KIFBP KLHL15 KNL1 LAGE3 LAMA1 LAMA2 LAMB1 LAMC3 LARGE1 LCA5 LIPT2 LMBRD2 LMNB1 LMNB2 LONP1 LRAT LRPPRC MACF1 MAGEL2 MAN1B1 MAN2C1 MAP1B MAPK8IP3 MAST1 MBOAT7 MCM7 MCPH1 MECP2 MED11 MED12 MED27 MEG3 METTL5 MFSD2A MICU1 MKS1 MLH1 MLYCD MN1 MPDZ MTOR MYORG NANS NARS1 NBN NCAPD3 NDE1 NDN NDUFA6 NEDD4L NEK1 NEUROD2 NFIX NMNAT1 NODAL NPHP1 NPRL2 NPRL3 NRCAM NSDHL NSRP1 NUP107 NUP133 NUP37 OCA2 OCLN ODC1 OFD1 OSGEP PAFAH1B1 PAX6 PCYT1A PDCD6IP PDE6D PDGFB PDGFRB PDHA1 PDHB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHC1 PHGDH PHOX2A PI4KA PIBF1 PIDD1 PIGB PIGP PIGQ PIK3CA PIK3R2 PLAA PLCH1 PLK4 PLP1 PMS2 PNKP POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POU4F1 PPFIBP1 PPIL1 PPP1R12A PRKDC PRORP PSAT1 PTCH1 PTEN PYCR2 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RALGAPA1 RD3 RDH12 RECQL4 RELN RMND1 RNU12 RNU4ATAC ROBO1 RPE65 RPGRIP1 RPGRIP1L RPS6KA3 RTL1 RTTN RXYLT1 SARS1 SASS6 SCN1B SCN2A SCN3A SEPSECS SF3B4 SHH SHMT2 SIK1 SIN3A SIX3 SLC20A2 SLC25A19 SLC25A22 SLC25A24 SLC30A9 SLC32A1 SLC5A6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SMPD4 SNAP29 SNRPN SON SOX11 SOX4 SPATA7 SPEN SPOP SRD5A3 SRPX2 STAMBP STIL STS SUFU SUZ12 TAF13 TBC1D20 TBC1D24 TBL1XR1 TBR1 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 THOC2 TMEM107 TMEM138 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM67 TMTC3 TMX2 TOGARAM1 TOPORS TP53RK TP73 TPRKB TRAIP TRAPPC10 TRAPPC12 TRAPPC14 TRIM8 TRMT10C TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTC5 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4B TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TULP1 USP18 USP45 USP9X VAC14 VIPAS39 VLDLR VPS33B VPS35L VPS4A WARS1 WASHC5 WDR26 WDR4 WDR62 WDR73 WT1 WWOX XPR1 XRCC4 YRDC YWHAE ZEB2 ZIC2 ZMIZ1 ZNF292 ZNF335 ZNF423 ZNF526 ZNHIT3 ZSWIM6 HP_ABNORMALITY_OF_NEUTROPHILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHILS AARS1 ABCC9 ABCD4 ACP5 ACTC1 ACTN2 ADA2 AGA AK2 AMN ANAPC1 ANKRD1 AP3B1 AP3D1 ASXL1 ATRX BAG3 BAG5 BCOR BLNK BTK CAMK2B CAP2 CARS1 CASP10 CBL CD40 CD40LG CD79A CD79B CDC40 CDCA7 CEBPE CIITA CLPB COG4 CRYAB CSF3R CSRP3 CTC1 CTLA4 CUBN CXCR2 CXCR4 CYBA CYBB CYBC1 DES DIAPH1 DKC1 DMD DNAJC21 DNMT3B DOLK DSG2 DSP EFL1 EIF2AK3 ELANE EPG5 ERCC2 ERCC3 ETV6 FANCA FANCC FANCD2 FANCE FANCG FANCI FAS FASLG FBXL4 FBXW7 FCGR3B FDX2 FHL2 FIBP FIP1L1 FKTN FMO3 FNIP1 FOXP3 FTCD FUT8 G6PC3 GATA1 GATA2 GATAD1 GFI1 GINS1 GPI GSS GTF2E2 GTF2H5 HAND2 HAX1 HEATR3 HELLS HLA-B HSCB HTRA2 ICOS IFNG IGHM IGLL1 IKBKG IKZF1 IL1RN IL36RN IL6ST IL7R IRAK4 IRF2BP2 IRF8 ITCH JAGN1 JPH2 KIT KRAS LAMA4 LAMTOR2 LBR LCP2 LDB3 LIG4 LMBRD1 LMNA LMOD2 LRBA LRRC8A LYST MAD2L2 MDM4 MECOM MEFV MMAA MMAB MMACHC MMUT MPLKIP MSN MTHFD1 MTRR MVK MYBPC3 MYD88 MYH6 MYH7 MYH9 MYPN MYSM1 NABP1 NBAS NCAPG2 NCF1 NCF2 NCF4 NDUFA6 NEXN NHP2 NLRP3 NOP10 NPM1 NRAS NSUN2 NUMA1 OTULIN PACS2 PARN PCCA PCCB PGM3 PIK3CD PIK3CG PIK3R1 PLN PML PMM2 PNP PPCS PPIL1 PRDM16 PRDX1 PRF1 PRKAR1A PRKCD PSEN1 PSEN2 RAB27A RAC2 RAF1 RAG1 RARA RASGRP1 RBM20 RECQL4 RELB RFX5 RFXANK RFXAP RMRP RNF113A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 RUNX1 SAMD9 SAMD9L SASH3 SBDS SCN5A SDHA SEC61A1 SF3B1 SFXN4 SGCD SH2D1A SLC19A1 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SMARCAL1 SMARCD2 SPI1 SPPL2A SRP19 SRP54 SRSF2 STAT1 STAT3 STAT5B STK4 STX11 STXBP2 TAF1A TAFAZZIN TARS1 TBK1 TBL1XR1 TCAP TCF3 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TICAM1 TINF2 TLR3 TLR8 TMEM147 TMPO TNNC1 TNNI3 TNNT2 TOM1 TONSL TPM1 TPP2 TRAC TRAF3 TSR2 TTN TXNRD2 TYMS UBE2A UNC13D UNC93B1 USB1 VCL VEZF1 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 WRAP53 XIAP ZBTB16 ZBTB24 ZNFX1 HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY AMN CEBPE CUBN CXCR4 FTCD LBR LYST MTHFD1 MYH9 NBAS RPS14 SF3B1 SFXN4 SLC19A1 SMARCD2 TET2 TMEM147 HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY CEBPE CYBA CYBB CYBC1 DNAJC21 EFL1 GPI IRF8 LCP2 LYST NCF1 NCF2 PMM2 RAC2 SBDS SLC35C1 SPPL2A SRP54 HP_ABNORMALITY_OF_OCCIPITOFRONTALIS_MUSCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCCIPITOFRONTALIS_MUSCLE AGRN CHAT COL13A1 MYO9A SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1 HP_ABNORMALITY_OF_OCULAR_ABDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_ABDUCTION COL25A1 GRM1 KIF21A MAFB MYMK MYMX PHOX2A ROBO3 SALL4 TUBA1A TUBB2B TUBB3 HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT AARS1 ALS2 ANO10 ATN1 ATP2B3 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS CACNA1A CACNA1G DARS2 DPM2 EEF2 ELOVL4 FGF14 FMR1 FTL GBA2 GDAP2 GJB1 GNB1 INPP5E ITPR1 KCNC3 KCND3 KCNN2 MAN2B1 MRE11 NOP56 PAFAH1B1 PDHB PEX10 PIK3R5 PLA2G6 PLD3 PMPCA POLR3A POLR3B PRDX3 PRKCG PRNP RARS1 RFC1 RNF170 RUBCN SACS SCYL1 SETX SPG11 SPTBN2 STT3A STUB1 STXBP1 SYNE1 SYT14 TBCD TBP THG1L TMEM106B TMEM216 TMEM240 TPP1 TSEN54 TTBK2 TULP1 UCHL1 WARS2 XRCC1 XRCC4 ZFYVE26 HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY ANOS1 EDN3 EDNRB MITF MKS1 PEX1 PIGA SOX10 HP_ABNORMALITY_OF_OPTIC_CHIASM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OPTIC_CHIASM_MORPHOLOGY ALDH1A3 DYRK1A LETM1 OPA1 TRAPPC12 UCHL1 HP_ABNORMALITY_OF_PAIN_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PAIN_SENSATION ABCA1 ABCD1 AIFM1 ALDH18A1 ALDH4A1 ATL1 ATL3 ATP1A2 ATXN1 CACNA1A CACNA2D1 CCT5 CDKL5 CHAMP1 CHST14 CLTCL1 DDHD1 DEAF1 DKK1 DNM1L DSE EBF3 ELP1 FAR1 FBN1 FLII FMR1 GABBR2 GABRG2 GDAP1 GJB1 GNB4 GRIA3 GRIN2A H19 HARS1 HDAC4 HERC2 HK1 HNRNPK HSPB1 IARS2 IGF2 IL6ST IQSEC2 JAG1 KCNQ1OT1 KDM5C KIF1A LIFR LMX1B MADD MAGEL2 MCM3AP MECP2 MEN1 MFN2 MKRN3 MPV17 MPZ NEFL NGF NGLY1 NKX6-2 NLRP3 NPAP1 NTNG1 NTRK1 PDK3 PDXK PEX16 PMP2 PMP22 PNPT1 PRDM12 PRNP PRPS1 PRRT2 PWAR1 PWRN1 RAI1 RELA RETREG1 RFX7 SCN10A SCN11A SCN1A SCN9A SCYL1 SDHA SH3TC2 SHANK3 SMC1A SNORD115-1 SNORD116-1 SORD SPTLC1 SPTLC2 SRPX2 SYNGAP1 TDP1 TMEM218 TRIO TRPM3 UBTF VCP WNK1 YY1 ZEB2 ZFHX2 ZFTA HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY ABCB4 ABCC8 ACTG2 AGPAT2 ALMS1 AP2S1 APOC2 APOE APPL1 ARX ATP6AP1 ATP8B1 BCKDHA BCKDHB BLK BRCA1 BRCA2 BSCL2 C4A CASR CAV1 CBS CCDC47 CCND1 CCR1 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEACAM3 CEACAM6 CEL CFTR CIDEC CLCA4 CNOT1 COX4I2 CPA1 CTLA4 CTNS CTRC CYBC1 DBT DCTN4 DIS3L2 DNAJC21 EDNRA EFL1 EIF2AK3 ERAP1 FAH FAS FCGR2A FLI1 FOCAD G6PC1 GATA6 GCGR GCK GCLC GK GLUD1 GNA11 GNAS GPC3 GPC4 GPIHBP1 GPR35 GSTM3 HAMP HFE HJV HLA-B HLA-DPA1 HLA-DPB1 HMGCL HMOX1 HNF1A HNF1B HNF4A IFNGR1 IFT172 IKZF1 IL10 IL12A IL12A-AS1 IL23R INS INSR JAG1 KCNJ11 KCNN4 KLF11 KLRC4 KRAS LBR LMF1 LMNA LPL MADD MAFA MEFV MEN1 MIF MMUT MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NADK2 NDUFS3 NEUROD1 NFS1 NSD2 NSMCE2 OFD1 PALB2 PALLD PAX4 PCCA PCCB PDE11A PDX1 PNPLA2 PPARG PRIM1 PRSS1 PRSS2 PRTN3 PTF1A PTPN22 PTRH2 PUF60 RABL3 RNU7-1 SBDS SCNN1A SCNN1B SEMA4D SERPINA1 SLC11A1 SLC16A1 SLC25A13 SLC26A9 SLC37A4 SLC6A14 SLC7A7 SLC9A3 SMAD4 SMARCAL1 SPINK1 SRP54 STAT3 STAT4 STUB1 STX1A TCF4 TGFB1 TKFC TLR4 TP53 TRMT5 UBAC2 UBR1 UCP2 UQCRH VHL XPNPEP3 YARS1 YY1 HP_ABNORMALITY_OF_PATTERN_VISUAL_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PATTERN_VISUAL_EVOKED_POTENTIALS CLN8 CWC27 DNM1L OPA1 SPG11 HP_ABNORMALITY_OF_PERIPHERAL_NERVE_CONDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PERIPHERAL_NERVE_CONDUCTION AARS1 ABHD12 AIFM1 ALS2 ARHGEF10 ARSA ATL1 ATL3 ATP11A ATP7B ATXN1 ATXN10 BSCL2 CACNA1S CADM3 CCT5 CEP126 CHCHD10 CNTNAP1 CPLANE1 CTDP1 CYP27A1 DCAF8 DEGS1 DHH DHX16 DNAJB6 DNAJC3 DNM2 EGR2 EMILIN1 ERCC3 ERCC4 ERCC6 ERCC8 FBLN5 FBN1 FBXO38 FGD4 FIG4 FLVCR1 FXN GABRA3 GALC GARS1 GDAP1 GFM2 GJB1 GJC2 HK1 HPDL HSD17B4 HSPB1 HSPB8 HYCC1 IDUA IGHMBP2 ITPR3 JPH1 KARS1 KCNJ18 KIF1A KIF1B LAMA2 LIG3 LITAF LMNA LRSAM1 LTBP3 LYST MATR3 MED25 MEGF10 MFF MFN2 MORC2 MPV17 MPZ MTMR2 MTRFR MYH14 NALCN NDRG1 NEFL NEU1 NFASC NGLY1 NOTCH2NLC NTRK1 PDK3 PEX6 PLA2G6 PLEKHG5 PLP1 PMP2 PMP22 PNKP PNPT1 POLG PRDX3 PRPS1 PRX PSAP PTRH2 RAB7A RAI1 REEP1 RETREG1 RFC1 RRM2B SACS SAMD9L SBF1 SBF2 SCN9A SCP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC25A15 SLC5A7 SNAP29 SORD SOX10 SPG21 SPTLC1 SPTLC2 SUCLA2 SUMF1 SYT2 TBC1D20 TDP1 TFG TPI1 TRIM2 TRPV4 TYMP UBA1 UQCRC1 VAMP1 VCP VPS13A WNK1 YARS1 YME1L1 HP_ABNORMALITY_OF_PREMOLAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PREMOLAR AXIN2 EDA EDARADD FGF3 FGFR1 IRF6 LRP6 MSX1 PAX9 SUMO1 TGFA WNT10A WNT10B HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH AARS1 ABCA12 ABCA3 ABCB11 ABCB4 ABCC6 ABCD4 ACE ACTA1 ACTG2 ACTL6B ACY1 ADA ADA2 ADAMTS2 ADAMTS3 ADARB1 ADAT3 ADCY6 ADGRG6 ADNP AFF2 AGGF1 AGRN AGT AGTPBP1 AGTR1 AHCY AIMP1 AKAP9 AKT2 ALB ALDH1A2 ALDH7A1 ALG1 ALG12 ALG14 ALG8 ALG9 ALPK3 ALPL ALX4 AMER1 AMMECR1 ANK2 ANO1 AP1S2 AP3B2 AQP2 ARHGAP31 ARSB ARSL ARV1 ARVCF ASAH1 ASCC1 ASCL1 ASH1L ASNS ASXL1 ASXL2 ASXL3 ATAD3A ATN1 ATP1A2 ATP1A3 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP8B1 AVPR2 B3GALT6 B3GLCT B4GALT1 B9D1 B9D2 BAZ1B BCL10 BCL7B BCR BICD2 BIN1 BMPER BNC2 BRAF BRCA1 BRCA2 BRD4 BRIP1 BSND BTG4 BUB1 BUB1B BUB3 BUD23 C11orf80 C1QBP C1QC CA2 CACNA1A CACNA1B CACNA1C CACNA1D CACNA2D1 CALCRL CALM1 CALM2 CALM3 CAMK2B CAMKMT CARS1 CARS2 CASP10 CAV3 CBL CC2D2A CCBE1 CCDC174 CCDC22 CCDC47 CD109 CD46 CD96 CDAN1 CDC42BPB CDK13 CDK19 CDKN1C CDKN2A CDON CELF2 CEP290 CEP55 CEP57 CERT1 CFH CFI CFL2 CHAT CHD7 CHEK2 CHMP2B CHRM3 CHRNA1 CHRND CHRNE CHRNG CHST3 CHUK CILK1 CLCN3 CLCN7 CLCNKA CLCNKB CLIP2 CLPB CLTC CLTCL1 CNKSR2 CNOT1 CNTN1 CNTNAP1 COASY COG5 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COMT COPB2 COQ7 CORIN COX11 COX14 COX15 CPLX1 CPSF3 CPT2 CRB2 CREBBP CRKL CRLS1 CRPPA CRTAP CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTSA CYFIP2 CYP11A1 CYP11B1 CYP11B2 DALRD3 DCLRE1B DCLRE1C DDX6 DEAF1 DEF6 DHCR7 DHDDS DHPS DIS3L2 DISP1 DLK1 DLL1 DLL4 DMPK DNA2 DNAJC30 DNM1 DNM1L DNM2 DNMT3A DOCK6 DOHH DOK7 DONSON DPAGT1 DPF2 DPH5 DPM2 DPYSL5 DSP DST DTYMK DUOX2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP EEF1A2 EFEMP2 EFNB1 EGFR EIF4H EIF5A ELN EMC10 ENPP1 EOGT EP300 EPB41 EPHB4 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 ERF ERGIC1 ESCO2 EXOSC9 EXT2 EXTL3 F13A1 F13B F2 F7 F8 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FARSB FAS FASLG FAT4 FBLN5 FBN1 FBXO28 FBXO43 FCGR3B FCSK FDXR FERMT1 FGF12 FGF13 FGF20 FGF8 FGFR1 FGFR3 FGFRL1 FH FIG4 FKBP14 FKBP6 FLI1 FLII FLNB FLT1 FLT4 FLVCR2 FOXC2 FOXE1 FOXF1 FOXH1 FOXRED1 FRA10AC1 FREM2 FUT8 FXR1 FZD4 FZR1 G6PC3 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALK1 GAS1 GATA1 GATA6 GATB GATC GBA1 GBE1 GFPT1 GFRA1 GGPS1 GJA1 GJB2 GLB1 GLDN GLE1 GLI2 GLI3 GLRB GMPPB GNB2 GNPTAB GON7 GOSR2 GP1BA GP1BB GPC3 GPC4 GPC6 GPKOW GREB1L GRIN2D GRIP1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB GYPC H19 H4C3 HACD1 HADHA HBA1 HBA2 HBB HCN1 HDAC8 HEATR3 HELLPAR HERC2 HIC1 HIRA HLCS HMGA2 HNF1B HNRNPK HOXD13 HRAS HS2ST1 HSD17B4 HSPA9 HSPG2 HYLS1 HYMAI IARS1 IARS2 IBA57 IFIH1 IFT80 IGF1 IGF2 IGHMBP2 IKZF1 IL1RN IL2RB IL2RG IL6ST IL7R INPPL1 INVS IPO8 IQCN IQSEC2 IRF6 ITGA2 ITGA2B ITGA6 ITGA7 ITGA8 ITGB2 ITGB3 ITGB4 JMJD1C JUP KANK2 KANSL1 KAT6B KBTBD13 KCNA2 KCNB1 KCNE1 KCNE2 KCNH2 KCNJ1 KCNJ5 KCNJ6 KCNQ1 KCNQ1OT1 KCNQ5 KDM3B KHDC3L KIAA0586 KIDINS220 KIF14 KIF20A KIF21A KIF26A KIF5C KIF7 KIT KLF1 KLHL40 KLHL41 KMT2D KRAS KRT1 LAGE3 LAMA5 LAMB2 LARS2 LBR LDHA LEMD2 LETM1 LGI4 LHX1 LIFR LIG4 LIMK1 LMNA LMOD1 LMOD3 LONP1 LORICRIN LRP5 LRPPRC LTBP3 LTBP4 LZTR1 MAD2L2 MADD MAFB MAGED2 MAGEL2 MAMLD1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPT MBTPS2 MCM10 MCM4 MCTP2 MDFIC MDM2 MECOM MED12 MEG3 MEGF10 MEI1 METTL27 MGAT2 MKRN3 MKS1 MLXIPL MMACHC MOGS MPLKIP MPZ MRAS MRPS16 MRPS22 MSX1 MT-ND1 MT-ND2 MT-ND3 MTHFR MTHFS MTM1 MTMR14 MTO1 MUSK MYCN MYD88 MYF6 MYH11 MYH3 MYH7 MYL1 MYL11 MYL2 MYL9 MYLK MYMK MYO9A MYOD1 MYPN NAA10 NAA20 NALCN NCF1 NDN NDP NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEK1 NEK8 NEK9 NELFA NEU1 NEXMIF NFASC NIPBL NLRP3 NLRP7 NODAL NOS1AP NOTCH1 NPAP1 NPC1 NPC2 NPHP3 NR1H4 NRAS NRCAM NSD1 NSD2 NSF NTRK2 NUBPL NUP107 NUP133 NUP188 NUP88 NUS1 OCA2 ODC1 OPA1 ORC1 OSGEP OSTM1 OTUD5 OTX2 PACS1 PACS2 PADI6 PAFAH1B1 PAICS PAK2 PALB2 PARS2 PAX2 PAX7 PBX1 PCDH12 PCGF2 PDHA1 PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHACTR1 PHGDH PHIP PHOX2B PI4KA PIEZO1 PIGA PIGG PIGL PIGN PIGO PIGQ PIGS PIGV PIGW PIGY PKHD1 PKLR PLAG1 PLAGL1 PLD1 PLEC PLOD1 PLPBP PLVAP PMM2 PNPO POLR2A POLR3A POMP POR PPM1B PPP1CB PPP3CA PRDM13 PREPL PRKAG2 PRKCD PRMT7 PRPS1 PRRX1 PRUNE1 PSAT1 PSEN1 PTCD3 PTCH1 PTH1R PTPN11 PTPN23 PTRH2 PUF60 PWAR1 PWRN1 QRICH1 QRSL1 RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALGAPA1 RAPSN RASA1 RASA2 RASGRP1 RBCK1 RBM10 RBPJ REC114 REN RET RFC2 RFWD3 RHAG RHCE RHD RIPK4 RIT1 RMND1 RMRP RNF113A RNF2 RNU4ATAC ROBO1 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RYR1 RYR3 SARS2 SATB1 SCARF2 SCN10A SCN3A SCN4A SCN4B SCN5A SCN8A SCYL2 SEC24C SEC24D SELENON SEMA3E SERPINE1 SERPINH1 SETD1A SF3B4 SFTPB SFTPC SFXN4 SHH SHOC2 SHPK SHQ1 SIN3A SIX3 SKIC2 SKIC3 SLC12A1 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC1A2 SLC25A1 SLC25A12 SLC25A19 SLC25A24 SLC25A26 SLC25A46 SLC26A2 SLC26A3 SLC27A4 SLC2A1 SLC30A9 SLC31A1 SLC35A2 SLC35D1 SLC38A3 SLC3A1 SLC5A7 SLC6A5 SLC6A9 SLC9A3 SLX4 SMARCAD1 SMARCAL1 SMARCD2 SMC1A SMC3 SMG9 SMN1 SMPD4 SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SNTA1 SOD1 SON SOS1 SOS2 SOX10 SOX17 SOX18 SOX9 SPECC1L SPEN SPINT2 SPOP SPRED2 SPTA1 SPTB SPTBN1 SQSTM1 STAG1 STAT2 STK11 STOX1 STRADA STX1A SUFU SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TALDO1 TAOK1 TAPT1 TARS1 TBC1D24 TBCD TBCK TBL2 TBX1 TBX5 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TFAM TGIF1 TGM1 THOC2 THSD1 TIMMDC1 TLK2 TMCO1 TMEM106B TMEM107 TMEM126B TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TNNC2 TOR1A TP53 TP53RK TP63 TPI1 TPM2 TPM3 TPRKB TRAF7 TRAIP TRAK1 TRAPPC12 TRDN TREM2 TRIM37 TRIP11 TRIP13 TRIP4 TRPV3 TRPV4 TRPV6 TSEN2 TSEN54 TSFM TSHR TSR2 TTC26 TTC7A TUBA1A TWIST1 TWIST2 TXNDC15 UBA1 UBA5 UBE2A UBE2T UFD1 UNC45B UQCC2 UQCRFS1 UROD UROS USP18 USP7 USP9X VAC14 VAMP1 VANGL2 VARS1 VCP VPS13B VPS33B VPS35L VPS37D WARS2 WASHC5 WDR35 WDR4 WDR62 WDR73 WDR81 WNT3 WNT4 WNT7A WNT9B WT1 WWOX XRCC2 YARS1 YRDC YWHAE YWHAG ZBTB18 ZBTB42 ZC4H2 ZFP36L2 ZIC2 ZIC3 ZMPSTE24 ZNF699 HP_ABNORMALITY_OF_PRIMARY_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRIMARY_TEETH ALPL AXIN2 B4GALT7 BCOR C1R C1S CA2 CAMK2B CBFB CLCN7 COL3A1 CSTB CTSC CTSK DEAF1 DVL1 EDA EDAR EDARADD EDNRA EHMT1 ERCC1 ERCC4 ERCC6 ERCC8 FAM111A FERMT1 FGFR1 FGFR2 FIG4 FLII FLNA GJA1 HNRNPK IL6ST IQSEC2 IRF6 KCNJ2 KCNJ5 KDF1 KIF7 LEMD2 LMNA LRP6 MSX1 NDUFB11 PAX9 PCGF2 PRKD1 PTH1R PURA PUS7 RAB23 RAI1 RHOA RNF113A RUNX2 SFRP4 SMARCAL1 SNRPN SNX10 SRCAP STAT3 SUMO1 TCIRG1 TFAP2B TGFA TMCO1 TNFSF11 TRAF6 UBR1 VAC14 VDR WNT10A WNT10B WNT5A ZBTB7A ZMPSTE24 HP_ABNORMALITY_OF_PROTHROMBIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PROTHROMBIN ACAD9 ADK AGA AHCY AKR1D1 ALG12 AMACR CD46 CFH CFI CLPB COG8 CYP7B1 EFL1 F10 F2 F5 F7 F9 FAH GFI1B GGCX GNE GPR35 HADH HELLPAR HLA-DQA1 HLA-DQB1 HMGCL LMAN1 MCFD2 MICOS13 MST1 MTTP NBAS NGLY1 NR1H4 OTC PET100 PGM1 PLOD3 PMM2 PRF1 RINT1 SEMA4D SLC25A13 SLC30A10 SLC37A4 SOS2 TCF4 TRMU VKORC1 HP_ABNORMALITY_OF_PULMONARY_CIRCULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION ABCC6 ABCD4 ACTA2 ACTC1 ACVRL1 AFF4 AGGF1 AGK AGR2 AKT1 ALDH1A2 ALMS1 ARHGAP31 ARSB ATP13A3 ATP5F1A BANF1 BMPR2 BTNL2 C4A CA2 CACNA1C CACNA1D CAV1 CBS CCN2 CCR1 CCR6 CD55 CHST3 CITED2 CLCN7 COG1 COL1A1 COL1A2 COLQ COX5A COX6B1 COX7B COX8A CTCF DEF6 DLK1 DLL4 DOCK6 EIF2AK4 ENG ENPP1 EOGT ERAP1 F13A1 F2 F8 FAS FBN1 FGFR1 FGFR3 FIG4 FLNA FLNC FOXF1 FOXP1 G6PC3 GATA4 GATA6 GBA1 GDF2 GNAQ HABP2 HBB HLA-B HLA-DRB1 HSPG2 IDUA IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL12B IL23R IL6ST IPO8 IRF5 JAK2 KCNJ5 KCNK3 KCNN4 KIAA0319L KIF20A KLRC4 KMT2D KRAS KRT18 LAMA2 LAMB2 LARS2 LIFR LIPT1 LMNA MED12 MED25 MEFV MEG3 MGP MLX MMACHC MPL MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MUC5B MYBPC3 MYH11 MYH6 MYH7 MYMK MYPN NAA10 NDUFA8 NDUFB10 NF1 NFIX NFU1 NKX2-1 NKX2-5 NOD2 NOTCH1 ODAD1 PAM16 PDSS1 PGM1 PIEZO1 PIGA PIGN PLP1 PPCS PRIM1 PROC PROS1 PTEN RBPJ RHAG RPL3L RTL1 SARS2 SCARB2 SERPINC1 SFTPA2 SFTPB SFTPC SLC25A24 SLC29A3 SLC34A2 SLC37A4 SLC4A1 SMAD4 SMAD9 SMARCAL1 SNX10 STAT1 STAT4 TBX20 TBX4 TCIRG1 TERT TET2 THBD THPO THSD1 TLL1 TLR4 TNFSF11 TNNI3 TNNT2 TOM1 TRRAP TTC26 UBAC2 UBE2A VAC14 VCL VHL VPS33A ZMPSTE24 ZNF699 HP_ABNORMALITY_OF_RADIAL_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RADIAL_EPIPHYSES BGN COL9A1 COL9A2 COL9A3 IFIH1 SLC26A2 HP_ABNORMALITY_OF_REFRACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REFRACTION AARS1 ABCC6 ACOX1 ACSL4 ADAMTS10 ADAMTS17 ADAMTS18 ADAMTS2 ADAMTSL1 ADAMTSL4 ADGRL1 ADGRV1 ADNP AEBP1 AFF4 AGBL5 AGK AHDC1 AIFM1 AKT1 ALDH18A1 ALDH1A3 ALDH3A2 AMMECR1 ANKRD11 ANTXR1 AP1B1 AP1G1 AP3D1 APC2 ARCN1 ARHGEF2 ARID1A ARID1B ARID2 ARL6 ARPC4 ARR3 ARSG ARV1 ASH1L ASPH ASXL1 ASXL3 ATAD3A ATF6 ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 BAP1 BAZ1B BBS1 BBS9 BCL11B BCL7B BEST1 BFSP2 BICRA BLOC1S3 BLTP1 BMP4 BPTF BRAF BRCA1 BRCA2 BRD4 BRIP1 BUD23 C12orf57 C1QBP CABP4 CACNA1F CACNA1G CACNA2D4 CAMK2B CAMK2G CAMSAP1 CAMTA1 CANT1 CARS1 CASK CASZ1 CBS CC2D2A CCDC28B CCDC47 CCNQ CDC45 CDH23 CDK8 CENPT CEP78 CFAP418 CHAMP1 CHD3 CHD4 CHM CHMP1A CHRDL1 CHST14 CHST3 CHST6 CIB2 CLCN3 CLDN11 CLDN16 CLDN19 CLIP2 CLP1 CLRN1 CNGA3 CNGB3 CNNM4 CNOT3 COL11A1 COL11A2 COL12A1 COL17A1 COL18A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL8A2 COL9A1 COL9A2 COL9A3 COX7B CPSF1 CRB1 CREBBP CRIPT CRPPA CRYAA CRYAB CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSGALNACT1 CSPP1 CSTA CTCF CTNNB1 CTSK CYP1B1 CYP4V2 CYSLTR2 DAG1 DDX6 DEAF1 DNAJC21 DNAJC30 DOHH DPAGT1 DPF2 DPH5 DPYD DSE DYRK1A EBF3 EDEM3 EED EFEMP1 EFL1 EHMT1 EIF2S3 EIF4H ELN ELOVL4 ELP1 EMC1 ENPP1 EP300 EPHA2 EPRS1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERMARD ESPN EXOSC2 EXOSC5 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FBXO11 FBXW11 FBXW7 FGD1 FGF3 FGFR2 FGFR3 FIBP FKBP14 FKBP6 FKRP FKTN FLCN FLII FLNA FN1 FOXL2 FOXP1 GABRD GALNT2 GATAD2B GJA1 GJA5 GJA8 GJC2 GLE1 GLRA2 GLRB GMPPB GNA11 GNAQ GNAT1 GNAT2 GNB2 GNB3 GNPTAB GNPTG GPAA1 GPR143 GPR179 GRHL2 GRIA1 GRK1 GRM6 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GZF1 H1-4 H4C3 H4C5 HACE1 HADHA HARS1 HCCS HDAC4 HDAC8 HERC1 HERC2 HIVEP2 HK1 HNRNPK HNRNPR HS6ST2 HSPG2 HTT HUWE1 IARS2 IFIH1 IFT122 IFT172 IFT27 IFT43 IFT52 IGF1 INTS1 IPO8 IQSEC2 IRX5 JAG1 KANSL1 KAT5 KAT6A KAT8 KCNAB2 KCNE5 KCNH1 KCNV2 KDM5B KDM5C KERA KIAA0586 KIAA0753 KIDINS220 KIF11 KIF21A KIFBP KLLN KMT2B KMT2C KRAS KRT14 KRT5 LAMA1 LAMB2 LARGE1 LAS1L LCA5 LIG4 LIMK1 LMBRD2 LMX1B LOX LOXL3 LRAT LRIT3 LRMDA LRP2 LRPAP1 LRRC32 LTBP2 LUZP1 MAD2L2 MADD MAF MAG MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK8IP3 MARK3 MBD5 MBTPS2 MC1R MED12 MED12L MED13L MED25 METTL27 MFRP MFSD8 MID1 MIR184 MKRN3 MLXIPL MMP23B MPLKIP MSX2 MT-TS2 MYO1H MYO5A MYO7A MYOC NADK2 NALCN NBAS NCF1 NDP NDRG1 NDUFB11 NEDD4L NEK1 NEUROD2 NFIX NIPBL NMNAT1 NOG NONO NOTCH2 NPAP1 NPR3 NR2F1 NRAS NSD1 NSUN2 NT5C2 NYX OAT OCA2 OFD1 OGT OPN1LW OPN1MW OPTN OTUD5 OTX2 OVOL2 P3H2 P4HA2 P4HTM PACS1 PACS2 PAK2 PALB2 PAX2 PAX6 PBX1 PCDH15 PCNT PCYT1A PDE4D PDE6B PDE6C PDE6H PDGFRB PDPN PDZD7 PDZD8 PGAP2 PGAP3 PGM2L1 PHIP PHOX2A PIEZO2 PIGG PIGL PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3R1 PITX2 PLOD1 PLOD3 PMM2 PNPLA6 POC1B POGZ POLR1C POLR3A POLR3B POLR3GL POMGNT1 POMK POMT1 POMT2 PPM1D PPP1R12A PPP1R21 PPP2R5D PQBP1 PRDM16 PRDM5 PRIMPOL PRKAR1B PRKCZ PRMT7 PRPS1 PRR12 PRSS56 PSMD12 PTEN PTPN11 PUF60 PURA PWAR1 PWRN1 RAB11B RAB28 RAD21 RAD50 RAD51 RAD51C RAI1 RAX RBM10 RECQL4 RERE RFC2 RFWD3 RHO RHOA RIN2 RLBP1 RMRP RNF113A RNF2 RNU4ATAC ROBO1 ROBO3 RORA RP1 RP2 RPE65 RPGR RPGRIP1 RPL10 RRAS2 RS1 SAG SATB1 SATB2 SCO2 SCUBE3 SDHB SDHC SDHD SEC23B SETBP1 SETD2 SETD5 SF3B1 SHANK3 SHOC2 SIN3A SIX6 SKI SLC12A6 SLC24A1 SLC25A24 SLC25A4 SLC2A10 SLC35A2 SLC38A8 SLC39A5 SLC39A8 SLC4A11 SLC6A6 SLC6A8 SLITRK6 SLX4 SMAD4 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMS SNORD115-1 SNORD116-1 SNRPN SOBP SON SOX10 SOX11 SOX2 SOX4 SOX5 SOX9 SPATA7 SPEN SRCAP STX1A STXBP1 SYNE1 SYT1 TAF1 TAOK1 TARS1 TASP1 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCE TBL2 TCEAL1 TCF20 TCF4 TCTN2 TDO2 TEAD1 TFAP2A TFAP2B TFE3 TGFBI TGM5 THG1L THOC6 TIMM8A TKFC TLK2 TMEM270 TMEM63A TMEM94 TMEM98 TNPO2 TRAPPC11 TRIM37 TRIT1 TRNT1 TRPM1 TRPV4 TSPAN7 TTC8 TTLL5 TTR TUB TUBA1A TUBB2B TUBB3 TUBB4B TULP1 TWIST2 TYR UBE2T UBE3A UBE3B UBE4B UCHL1 UFC1 UNC119 UQCC3 USF3 USH1C USH1G USH2A USP7 USP9X VARS1 VCAN VPS13B VPS37D VPS50 VSX1 WAC WDR19 WDR26 WDR35 WDR45 WHRN XRCC2 XYLT1 XYLT2 YME1L1 YY1 ZBTB7A ZC4H2 ZEB1 ZEB2 ZFHX4 ZMIZ1 ZMYM2 ZNF148 ZNF408 ZNF469 ZNF644 ZSWIM6 HP_ABNORMALITY_OF_RENAL_EXCRETION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENAL_EXCRETION ACE AGT AGTR1 APRT AQP2 ATP1A1 AVPR2 BSND C3 CASR CAV1 CCN2 CCR6 CD46 CFB CFH CFHR1 CFHR3 CFI CLCNKA CLCNKB CLDN10 CLDN16 CTNS CYP24A1 DMP1 DZIP1L ENPP1 FAM20A GALNT3 HLA-DRB1 HNF1A IL6 IRF5 ITPR3 KCNJ1 KCNJ10 KCNJ5 KL LPIN1 LZTFL1 MAGED2 MT-CO1 MT-CO3 MUC1 MYH11 NPHP1 NPHP3 NPHP4 OBSCN PAX2 PBX1 PKHD1 PLVAP PTPN22 REN RRAGD RYR1 SARS2 SLC12A1 SLC12A3 SLC22A12 SLC25A20 SLC34A1 SLC41A1 SLC5A2 SON THBD TMEM67 HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM AVPR2 BSND CACNA1D CASR CDKN1A CDKN1B CDKN2B CDKN2C CLCN2 CLCNKA CLCNKB CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 HSD3B2 INSR KCNJ1 KCNJ10 KCNJ16 KCNJ5 MAGED2 MC2R MEN1 MRAP NNT NR3C2 POR SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3 WNK1 HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY AARS1 AARS2 ABCA4 ABCD1 ABCD4 ABL1 ACTA2 ACTB ACTG2 ACTL9 ADAMTS3 ADARB1 ADAT3 ADGRG2 ADNP AEBP1 AFF4 AGA AGBL5 AGGF1 AGK AGPAT2 AHI1 AHR AHSG AIP AIRE AK7 AKAP3 AKR1C2 AKR1C4 AKT1 AKT2 ALDH18A1 ALDH1A2 ALG1 ALG12 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALX4 AMACR AMH AMHR2 ANAPC1 ANAPC7 ANGPT2 ANK1 ANKLE2 ANKRD11 ANOS1 ANTXR1 AP1S2 APC2 AR ARCN1 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARMC2 ARMC5 ARNT2 ARSL ARVCF ARX ASH1L ASTL ASXL3 ATAD3A ATM ATN1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATPAF1 ATPAF2 ATR ATRX ATXN8OS AURKC AUTS2 AXL B3GALNT2 B3GLCT B4GALNT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL10 BCL7B BCOR BCS1L BDNF BEST1 BICC1 BICRA BIN1 BLM BLOC1S3 BLOC1S5 BMP15 BMP2 BMP4 BMP6 BMPR1B BNC1 BPTF BPY2 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRDT BRF1 BRIP1 BRWD3 BSCL2 BTG4 BUB1B BUD23 C11orf80 C14orf39 C2CD3 C2CD6 C4A CA4 CACNA1G CAMK2A CAMKMT CAMSAP1 CARS1 CASP10 CASZ1 CATIP CATSPER1 CATSPER2 CAV1 CAVIN1 CBL CBX2 CC2D2A CCBE1 CCDC103 CCDC141 CCDC174 CCDC22 CCDC28B CCDC32 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCDC8 CCN2 CCNO CCR1 CCR6 CD96 CDC14A CDC20 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH11 CDH2 CDH23 CDHR1 CDK8 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDT1 CDY1 CDY2A CEP112 CEP120 CEP152 CEP164 CEP19 CEP290 CERKL CFAP221 CFAP251 CFAP298 CFAP300 CFAP410 CFAP418 CFAP43 CFAP44 CFAP45 CFAP47 CFAP52 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CFTR CHD4 CHD7 CHEK2 CHP1 CHRM3 CHRNG CHST14 CIDEC CILK1 CISD2 CITED2 CKAP2L CLCN3 CLCN4 CLDN2 CLEC7A CLIC2 CLIP2 CLP1 CLPP CLRN1 CNBP CNGA1 CNGB1 COG1 COG5 COL25A1 COL3A1 COL4A1 COLEC10 COLEC11 COMT COQ2 COX7B CPE CPLANE1 CPLX1 CRB1 CREBBP CRPPA CRX CSPP1 CT55 CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNS CUL4B CUL7 CWC27 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DBH DCAF17 DCC DDB2 DDX3X DDX3Y DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHH DHODH DHX37 DHX38 DIAPH1 DIAPH2 DICER1 DIS3L2 DKC1 DLK1 DLL3 DLX4 DMPK DMRT1 DMRT3 DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAJC6 DNAL1 DNAL4 DNALI1 DNHD1 DNM1L DNM2 DNMT3A DOK7 DPAGT1 DPF2 DPH2 DPP9 DPY19L2 DPYSL5 DRC1 DSE DTNBP1 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1 EBF3 EBP EDEM3 EED EFNB1 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S3 EIF4H EIF5A ELN EMG1 EP300 ERAL1 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESR1 ESR2 ESS2 EVC EVC2 EWSR1 EXT2 EYS EZH2 F10 F11 F13A1 F13B F2 F5 F7 F8 FAM111A FAM149B1 FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FASLG FAT4 FBLN1 FBN1 FBXO43 FBXW7 FCGR2A FDFT1 FEZF1 FGA FGB FGD1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FGG FIG4 FIGLA FIP1L1 FKBP6 FKRP FKTN FLG FLI1 FLNA FLNB FLRT3 FLT4 FMR1 FOCAD FOS FOXA2 FOXJ1 FOXL2 FRAS1 FREM2 FSCN2 FSHB FSHR FSIP2 FTO FUZ FXR1 FZD2 G6PC3 GABRD GALC GALK1 GALT GANAB GAS2L2 GAS8 GATA1 GATA3 GATA4 GATA5 GATA6 GBA1 GBA2 GCM2 GCNA GDF1 GDF6 GDF9 GFM2 GGN GGPS1 GHR GJA1 GJA5 GJB2 GJB3 GJB4 GJC2 GK GLE1 GLI1 GLI2 GLI3 GMNN GMPPB GNAS GNB2 GNRH1 GNRHR GP1BA GP1BB GP6 GP9 GPC3 GPC4 GPC6 GPR101 GPR161 GRB10 GRIA2 GRIA3 GRIN2B GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY1A1 H1-4 H19 H4C5 H4C9 H6PD HAMP HARS2 HBA1 HBA2 HBB HCCS HDAC4 HDAC8 HERC2 HES7 HESX1 HEXB HFE HFM1 HGSNAT HIBCH HIRA HJV HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HNF1B HNRNPH1 HNRNPK HNRNPR HOXD13 HPRT1 HPS4 HPS5 HPSE2 HRAS HS2ST1 HS6ST1 HSD17B3 HSD17B4 HSD3B2 HSF2BP HSFY1 HSPG2 HTRA2 HTT HUWE1 HYDIN HYLS1 HYMAI IDH3A IDH3B IER3IP1 IFNGR1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGBP1 IGF1 IGF2 IKZF1 IL10 IL12A IL12A-AS1 IL17F IL17RA IL17RC IL17RD IL1RAPL1 IL23R IMPDH1 IMPG1 IMPG2 INPP5K INPPL1 INSL3 INVS IQCB1 IQCN IRF2BP2 IRF4 IRF5 IRF6 IRX5 ITGA2B ITGA8 ITGB3 ITGB6 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KCNAB2 KCNJ6 KCNQ1 KCNQ1OT1 KCNU1 KDM1A KDM3B KDM5B KDM5C KDM5D KDM6A KDM6B KDR KDSR KEAP1 KIAA0753 KIAA1549 KIF21A KIF7 KISS1 KISS1R KIT KIZ KLHL10 KLHL15 KLHL7 KLRC4 KMT2A KMT2D KMT2E KMT5B KPNA7 KRAS LARGE1 LARP7 LARS2 LAS1L LEP LEPR LETM1 LFNG LGR4 LHB LHCGR LHX1 LHX3 LHX4 LIG3 LIG4 LIMK1 LIPE LMAN1 LMBR1 LMNA LMNB1 LMNB2 LMOD1 LMX1B LONP1 LRAT LRIG2 LRRC56 LRRK2 LSS LUZP1 LZTFL1 LZTR1 M1AP MAD2L2 MADD MAF MAGEL2 MAK MAMLD1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MBTPS2 MC2R MCFD2 MCIDAS MCM3AP MCM5 MCM8 MCM9 MCTP2 MDFIC MDM2 MECOM MECP2 MED11 MED12 MED13L MEFV MEG3 MEGF8 MEI1 MEIOB MEN1 MERTK MESP2 METTL27 MGME1 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MNS1 MOGS MOS MOV10L1 MPLKIP MRAP MRAS MRE11 MRPS22 MRPS28 MRPS7 MSH4 MSH5 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTM1 MTMR14 MTOR MUSK MYF6 MYH11 MYH3 MYH9 MYL11 MYLK MYMK MYOD1 MYRF NAA10 NABP1 NAF1 NALCN NANOS1 NBEAL2 NBN NCF1 NDN NDNF NDP NDUFB11 NDUFB7 NECTIN1 NEDD4L NEK10 NEK2 NELFA NF1 NF2 NFIB NFIX NHLH2 NHP2 NIN NIPBL NKAP NKX2-5 NKX2-6 NLRP2 NLRP5 NME5 NME8 NNT NOBOX NONO NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NR0B1 NR2E3 NR3C1 NR5A1 NRAS NRL NSD1 NSD2 NSMF NSUN2 NTN1 NUMA1 NUP107 NUP88 NXN OBSL1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGT OPA1 OPHN1 ORC1 ORC4 ORC6 OTUD5 OTUD6B OTX2 PACS1 PACS2 PADI6 PAICS PALB2 PANX1 PAPSS2 PARK7 PARN PATL2 PAX2 PAX6 PAX7 PBX1 PCARE PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDHA2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGR PHACTR1 PHF6 PHF8 PHGDH PHIP PHKA2 PHKB PHKG2 PHOX2A PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGS PIK3C2A PIK3CA PINK1 PKD1 PKD2 PLAG1 PLAGL1 PLAU PLCZ1 PLIN1 PLVAP PLXND1 PMFBP1 PML PMM2 PNLDC1 PNPLA6 POC1A PODXL POF1B POLA1 POLD1 POLE POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3B POLR3H POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F3 PPARG PPFIBP1 PPM1B PPP1CB PPP1R12A PPP1R15B PPP2R3C PQBP1 PRCD PRDM13 PRDM16 PREPL PRIM1 PRKACA PRKACB PRKACG PRKAR1A PRKCD PRKCZ PRKN PRLR PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRY PRY2 PSMB8 PSMC1 PSMC3IP PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PTPRF PWAR1 PWRN1 PYCR1 QRICH2 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAPSN RARA RARB RASA2 RASGRP1 RASGRP2 RBM10 RBM28 RBMX RBMY1A1 RBP3 RCBTB1 RDH12 REC114 RECQL4 REEP6 RERE REV3L RFC2 RFWD3 RGR RHO RIN2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RNF113A RNF135 RNF212 RNF216 RNU4ATAC ROBO1 ROM1 ROR2 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL10L RPS4Y2 RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RTEL1 RTL1 RTN2 RTTN RXYLT1 RYR1 SACS SAG SALL1 SAMD9 SATB2 SCAPER SCLT1 SCP2 SCYL2 SDCCAG8 SEC23A SEC24C SEMA3A SEMA3E SEMA4A SEPTIN12 SERPINE1 SETBP1 SETD1A SETD2 SETD5 SGPL1 SHOC1 SHOC2 SIAH1 SIL1 SIM1 SIN3A SIX6 SKI SLC16A2 SLC18A3 SLC19A2 SLC25A10 SLC25A13 SLC25A24 SLC26A2 SLC26A8 SLC29A3 SLC2A3 SLC34A2 SLC35D1 SLC37A4 SLC39A4 SLC3A1 SLC40A1 SLC7A14 SLFN14 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMOC1 SMS SNAP29 SNCA SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX2 SOX3 SOX4 SOX9 SPAG1 SPAG17 SPATA16 SPATA7 SPECC1L SPEF2 SPEN SPIDR SPINK2 SPRED2 SPRTN SPRY4 SQSTM1 SRA1 SRCAP SRD5A2 SRY SSX1 STAC3 STAG1 STAG3 STAR STAT3 STAT4 STAT5B STEAP3 STK11 STK36 STRA6 STRC STS STT3A STT3B STUB1 STX1A STXBP1 SUFU SUN5 SUZ12 SYCE1 SYCP2 SYCP3 SYNE1 SYNJ1 TAC3 TACR3 TAF4B TAF6 TARS1 TASP1 TBC1D20 TBCD TBCE TBCK TBL1X TBL1XR1 TBL2 TBX1 TBX22 TBX3 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDRD9 TEKT3 TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TFAP2A TFR2 TGDS TGFB1 THOC2 THOC6 THSD1 TIAM1 TINF2 TKT TLE6 TLR4 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMEM94 TNFRSF1A TNRC6B TOE1 TOGARAM1 TOPORS TP53 TP63 TPM2 TPR TRAF3IP1 TRAF3IP2 TRAF7 TRANK1 TRIM32 TRIP13 TRIP4 TRMT10A TRPM3 TRRAP TSGA10 TSHB TSPY1 TSPYL1 TSR2 TTC12 TTC21A TTC29 TTC5 TTC8 TTI2 TTR TUB TUBA1A TUBB TUBB2B TUBB3 TUBB8 TULP1 TWIST1 TWIST2 TWNK TXNDC15 TXNRD2 TYMP TYMS UBA1 UBAC2 UBAP1 UBE2A UBE2T UBE4B UBR1 UBR7 UCHL1 UFD1 UPF3B UQCC2 USB1 USH2A USP26 USP48 USP7 USP8 USP9Y VAC14 VAMP7 VANGL1 VCY VEGFC VPS13B VPS13C VPS35L VPS37D VPS4A VPS50 VWF WAS WDPCP WDR11 WDR19 WDR35 WDR37 WDR62 WEE2 WFS1 WIPF1 WNT3 WNT4 WNT5A WNT7A WNT7B WRAP53 WRN WT1 WWOX XKRY XPA XPC XRCC2 XRCC4 XYLT2 YARS1 YY1 ZBTB16 ZBTB20 ZDHHC9 ZEB2 ZFHX4 ZFP36L2 ZFPM2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND15 ZNF408 ZNF513 ZNF699 ZNRF3 ZP1 ZP2 ZP3 ZPBP ZPR1 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_RETINAL_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION ABCA4 ACOX1 ADAM9 AGBL5 AHI1 AHR AIPL1 AIRE AKT1 ALDH1A3 ALDH3A2 ALDH6A1 ALMS1 AMACR APC ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARSG ATF6 ATXN7 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CA4 CABP4 CACNA1F CACNA2D4 CAV1 CBS CC2D2A CCDC28B CDH3 CDHR1 CEP120 CEP164 CEP19 CEP290 CERKL CFAP410 CFAP418 CFH CFI CHM CLCC1 CLCN3 CLDN19 CLN3 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COA8 COX7B COX8A CP CRB1 CRX CTNNB1 CTNS CYP4V2 DHDDS DHX16 DHX38 DRAM2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EDN3 EDNRB EFEMP1 ELMO2 ELOVL4 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EYS FAM161A FKRP FLCN FLNB FLVCR1 FSCN2 GDF6 GMPPB GNAT1 GNAT2 GNB3 GPR179 GRK1 GRM6 GSS GUCA1A GUCA1B GUCY2D HADH HADHA HADHB HCCS HGSNAT HK1 HKDC1 IDH3A IDH3B IDS IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IFT88 IMPDH1 IMPG1 IMPG2 INVS IQCB1 ISCA1 JAG1 KCNJ13 KIAA0753 KIAA1549 KIF11 KIZ KLHL7 LARGE1 LCA5 LMNA LRAT LRIT3 LYST LZTFL1 MAK MC1R MCOLN1 MECR MED12 MERTK MFRP MFSD8 MITF MKKS MKS1 MMACHC MORC2 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTTP NBN NCAPG2 NDUFAF1 NDUFB11 NEK2 NGLY1 NMNAT1 NOTCH2NLC NPHP1 NPHP3 NPHP4 NR2E3 NRL NYX OCA2 OFD1 OPN1LW OPN1MW OTX2 PANK2 PAX6 PCARE PCYT1A PDE6A PDE6B PDE6C PDE6G PDE6H PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PIEZO2 PISD PITPNM3 PLK4 PNPLA6 POC1B POLG POLR3A POMGNT1 POMT1 POMT2 PRCD PRDX1 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS56 PTEN PUS1 RAB18 RAB28 RAB3GAP1 RAB3GAP2 RAX RAX2 RBP3 RD3 RDH11 RDH12 RDH5 REEP6 RGR RHO RIMS1 RLBP1 RMRP RNASEH1 RNF216 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPS6KA3 RRM2B SAG SCAPER SCLT1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SELENOI SEMA4A SIX6 SLC12A6 SLC24A1 SLC45A2 SLC6A6 SLC7A14 SNRNP200 SOX10 SOX2 SPATA7 SUMF1 SURF1 TAF2 TBC1D20 TIMP3 TLCD3B TMEM98 TNFRSF11A TNFRSF11B TOPORS TRAF3IP1 TRIM32 TRIM37 TRPM1 TTC21B TTC8 TTLL5 TTPA TUB TUBB4B TUBGCP4 TUBGCP6 TULP1 TWNK TYR UNC119 USH2A USP45 VPS13B VPS33A VPS41 WDPCP WDR19 WFS1 WRN ZFYVE26 ZNF408 ZNF513 HP_ABNORMALITY_OF_SALIVATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SALIVATION ADGRG1 ALS2 ANG ANKLE2 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP10A ATP1A3 ATP6AP2 ATP7B ATRX ATXN2 BANK1 BCORL1 BLK C4A C4B CACNA1I CAMTA1 CAV1 CCN2 CCNF CCR6 CERT1 CFAP410 CHAMP1 CHCHD10 CHMP2B CHRM3 CLDN10 CLDN11 CR2 CTLA4 DAO DCTN1 DEAF1 DLAT DLK1 DNASE1 DNM1L EDARADD EIF2S3 ELOVL1 EPHA4 ERBB4 ETS1 EXTL3 FBLN1 FBXO28 FCGR2B FCGR3B FGF10 FGFR2 FGFR3 FIG4 FOXG1 FOXP1 FOXP2 FUS GABBR2 GABRA1 GABRG2 GCH1 GFM2 GLE1 GLT8D1 GNS GPT2 GRIK2 GRIN2A GRIN2D GSN HDAC4 HERC1 HIVEP2 HLA-B HLA-DRB1 HNRNPA1 HNRNPH2 HPDL IGHG1 IKZF1 IL10 IRAK1 IRF5 ITGAM JAZF1 KCNC2 KIAA0319L KIF15 KIF7 LBR LMNB2 LNPK MAGEL2 MATR3 MBD5 MECP2 MED12 MED27 MEG3 MRE11 MTHFS NAA20 NALCN NAXD NEFH NEK1 NEXMIF NFIX NOD2 NONO NRXN1 NTNG2 OCA2 OPTN PAK3 PCDH19 PCGF2 PDCD1 PDE10A PFN1 PI4KA PIGL PLA2G6 PMP22 POLR3A POLR3B PON1 PON2 PON3 POU3F3 PPARGC1A PRPH PRPS1 PTPN22 PTS PXK QDPR RAB11B RSRC1 RTL1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN9A SERPING1 SETD5 SH3TC2 SHMT2 SIM1 SLC12A2 SLC12A5 SLC16A2 SLC1A4 SLC25A12 SLC9A6 SLC9A7 SMARCA2 SNRPN SOD1 SPART SPEN SPP1 SPTBN1 SQSTM1 SRPX2 STAT4 STRADA SYNGAP1 TAF15 TANGO2 TARDBP TASP1 TBK1 TBX1 TH TLR7 TNFAIP3 TNFSF4 TNIP1 TP63 TREM2 TREX1 TSPOAP1 TUBB2B UBE2L3 UBE3A UBQLN2 UNC13A VAC14 VAPB VCP VPS13A ZBTB11 ZC4H2 ZEB2 HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR ADAMTS3 ANOS1 APCDD1 APOE AR AXIN2 AXL BMP15 BNC1 CCBE1 CCDC141 CDSN COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DSC3 DUSP6 EPS8L3 ESR1 FAT4 FEZF1 FGF17 FOXA2 FOXL2 FSHB FSHR GATA4 GJB2 GJB6 GLI2 GNRH1 GNRHR HESX1 HLA-DRA HR ITGB4 KCTD1 KRT74 LHB LHX4 LIPH LPAR6 LSS MAP3K1 MDM2 MRPS22 MSH4 NR0B1 NR5A1 NUP107 ORC6 OTX2 POLR3H POU1F1 PPP2R3C PROP1 PSMB8 PSMC3IP RPL21 SEMA3E SNRPE SOX3 SOX9 SPIDR SPRY4 SRA1 SRY TBX3 TP63 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2 ZSWIM7 HP_ABNORMALITY_OF_SERUM_CYTOKINE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SERUM_CYTOKINE_LEVEL ABCB11 ABCB4 ADAR ANKRD55 ATP8B1 CARD10 CASP10 CD247 ELF4 FADD FAS FASLG HMOX1 IFIH1 IL12RB1 IL2RA IL2RB IL6R LSM11 MEFV NR1H4 POLA1 PRF1 PRKCD PSMB8 PTPN2 PTPN22 RASGRP1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SASH3 SP110 STAT1 STAT4 STX11 STXBP2 TOM1 TREX1 UNC13D HP_ABNORMALITY_OF_SKELETAL_MATURATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MATURATION AARS1 ABCC9 ABCD4 ACAN AGA AGPAT2 AHSG AIFM1 AIP ALDH18A1 ALG9 ALMS1 ANAPC1 ANKRD11 ANKRD17 ANOS1 ANTXR1 APC2 ARCN1 ARID1A ARID1B ARID2 ASXL2 ATR ATRIP ATRX B3GAT3 B4GALT7 BAZ1B BCL7B BMP15 BMP2 BMPR1B BNC1 BRAF BRD4 BRF1 BSCL2 BTK BUD23 CANT1 CARS1 CAV1 CAVIN1 CBL CCBE1 CCDC141 CCDC8 CD96 CDC45 CDC6 CDKN1C CDT1 CENPE CENPJ CENPT CEP152 CEP57 CHD7 CHP1 CHST3 CKAP2L CLIP2 COL2A1 COX4I1 COX4I2 CPLX1 CREBBP CSGALNACT1 CTBP1 CTNS CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DCAF17 DCC DDB2 DDOST DDX6 DHX37 DMRT3 DNA2 DNAJC21 DNAJC30 DONSON DPF2 DPP6 DUSP6 DVL1 DYNC2LI1 EED EFL1 EIF4H ELN ENPP1 EP300 ERCC2 ERCC3 ERCC4 ERCC5 ESR1 EVC EVC2 EXT1 EXTL3 EYA1 EZH2 FAM111A FARSB FBN1 FEZF1 FGF17 FGF8 FGFR1 FGFRL1 FKBP6 FLNB FLRT3 FMR1 FOS FOXA2 FOXP2 FSHB FSHR GATA4 GBA1 GDF5 GET4 GH1 GHR GHRHR GHSR GJA1 GLI1 GLI2 GLI3 GMNN GNAS GNRH1 GNRHR GPC3 GPC4 GPR101 GPX4 GRB10 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H1-4 H19 HDAC8 HESX1 HMGA2 HRAS HS6ST1 HSD11B1 HSD17B4 HSPG2 HUWE1 IFT57 IGF1 IGF1R IGF2 IGFALS IHH IL17RD INPPL1 INSR ITCH ITGB6 KARS1 KCNJ2 KCNJ8 KCNQ1 KCNQ1OT1 KIF15 KISS1 KISS1R KMT2A KRAS LEP LEPR LETM1 LGR4 LHCGR LHX4 LIG4 LIMK1 LONP1 LPIN2 LSS LTBP3 LZTR1 MADD MALT1 MAP3K1 MAP3K7 MBTPS2 MC2R MCM9 MECP2 MEN1 METTL27 MKRN3 MLXIPL MMP13 MPLKIP MRAS MRPS22 MSH4 MSMO1 MSTO1 MT-ATP8 MT-TL1 MVK NAA10 NBAS NCF1 NDNF NELFA NEU1 NFE2L2 NFIX NGLY1 NHLH2 NIN NIPBL NMNAT1 NPR2 NR0B1 NR2F1 NR5A1 NRAS NSD1 NSD2 NSMF NSUN2 NUP107 NUP85 OBSL1 ORC1 ORC4 ORC6 OTX2 PAM16 PAX1 PAX8 PCGF2 PCNT PCSK1 PDE4D PDGFRB PEX1 PEX6 PIGG PIGT PIK3C2A PIK3R1 PLK4 PNPLA6 POLA1 POLR3H POMC POP1 POR POU1F1 POU3F4 PPARG PPP1CB PPP1R15B PPP1R21 PPP2R3C PRKACA PRKACB PRKAR1A PRKG2 PROK2 PROKR2 PROP1 PSMC3IP PTCH1 PTDSS1 PTEN PTH1R PTPN11 QRICH1 RAD21 RAF1 RASA2 RBBP8 RBM28 RECQL4 RFC2 RIT1 RMRP RNF113A RNF13 RNF135 RNPC3 RNU12 RNU4ATAC ROR2 RPS6KA3 RRAS RRAS2 RRM2B RSPRY1 SBDS SCARB2 SECISBP2 SEMA3A SETD2 SHANK3 SHOC2 SIN3A SIN3B SLC10A7 SLC25A24 SLC26A2 SLC29A3 SLC35D1 SLC7A7 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD1 SOHLH1 SOS1 SOS2 SOX10 SOX11 SOX3 SOX4 SOX9 SPIDR SPRED2 SPRTN SPRY4 SRCAP SRP54 SRY STAT1 STAT5B STX1A SUZ12 TAB2 TAC3 TACR3 TAF13 TARS1 TBCE TBCK TBL2 TCF20 TET3 THRA TMEM270 TMEM67 TOM1 TONSL TP53 TRAIP TRH TRHR TRPS1 TRPV4 TSHB TSHR UBE3C UBR1 UFSP2 VAMP7 VPS37D WDR11 WDR4 WNT5A WT1 WWOX XPA XPC XYLT1 ZEB2 ZFPM2 ZNF699 ZSWIM7 HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE AARS2 ACTA1 ACTN2 ADGRG6 AHCY AIFM1 ALDOA ALG2 ANO5 ANXA11 ASCC1 BVES CACNA1S CAPN3 CASQ1 CAV3 CAVIN1 CCDC174 CFL2 CHRNB1 CLCN6 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CRYAB CTBP1 DAG1 DMD DNAJB6 DPM3 DYSF FHL1 FKTN GARS1 GIPC1 GNE HNRNPA1 HNRNPA2B1 HPDL ISCU ITGA7 JAG2 KBTBD13 KIF5A KLHL41 KY LAMA2 LMNA LMOD3 LRP12 LYRM4 MAP3K20 MATR3 MB MEGF10 MICU1 MIPEP MLIP MSTO1 MTM1 MYH14 MYH2 MYL1 MYL2 MYOT MYPN NDUFA4 NEB NEFH NEK9 NOTCH2NLC OBSCN OPA1 ORAI1 PFKM PLEC POLG POMGNT1 POMT1 POMT2 POPDC3 PPARG RILPL1 RYR1 RYR3 SCN4A SCO2 SELENON SGCA SGCB SGCG SLC25A12 SMN1 SMPX SQSTM1 STAC3 STIM1 SUCLG1 SYNE1 SYNE2 SYT2 TCAP TMEM43 TNNC2 TNNT1 TOR1AIP1 TPM2 TPM3 TRIM32 TRIP4 TTN TWNK UNC45B VCP YME1L1 HP_ABNORMALITY_OF_SKIN_ADNEXA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_ADNEXA_MORPHOLOGY AAGAB AARS1 AASS ABCA1 ABCA12 ABCA2 ABCA5 ABCC9 ABCD1 ABHD5 ABL1 ACAN ACD ACER3 ACSL4 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ACVRL1 ADA ADA2 ADAM17 ADAMTS2 ADAMTS3 ADAMTSL2 ADARB1 ADAT3 ADNP AEBP1 AFF3 AFF4 AGPAT2 AHCY AHI1 AHSG AIFM1 AIMP2 AIP AIRE AKT1 ALDH18A1 ALDH3A2 ALDH6A1 ALDOA ALG11 ALG12 ALG3 ALG9 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMMECR1 ANAPC1 ANGPT1 ANGPT2 ANKRD11 ANKRD17 ANOS1 ANTXR1 ANTXR2 AP1B1 AP1S3 AP2M1 AP3B1 AP3B2 AP3D1 APC APC2 APCDD1 APOE APTX AR ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC5 ARMC9 ARSB ARX ASH1L ASL ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATAD3A ATL1 ATM ATP10A ATP1A2 ATP1A3 ATP2A2 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 AXIN2 AXL B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BANK1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL11B BCL7B BCOR BCORL1 BCR BCS1L BGN BHLHA9 BICRA BLK BLM BLOC1S3 BLOC1S5 BMP1 BMP15 BMP2 BMP4 BMPER BMPR1B BNC1 BPTF BRAF BRCA1 BRCC3 BRD4 BRF1 BSCL2 BTD BTK BTNL2 BUD23 C12orf57 C18orf32 C3orf52 C4A C4B CACNA1A CACNA1C CACNA1F CACNA1G CAMK2A CAMK2B CAMK2G CAMKMT CAMTA1 CANT1 CAPN15 CARD14 CARS1 CASK CASR CAST CASZ1 CAV1 CAVIN1 CBL CBS CBY1 CC2D2A CCBE1 CCDC141 CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCNK CD151 CD28 CD96 CDC42 CDC42BPB CDC45 CDH1 CDH11 CDH2 CDH23 CDH3 CDIN1 CDK10 CDK13 CDK19 CDK4 CDK5 CDKL5 CDKN1C CDKN2A CDKN2B CDON CDSN CEBPE CENPE CENPJ CENPT CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP57 CERS3 CERT1 CFAP418 CHD1 CHD2 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA7 CHRNG CHST3 CHST8 CHSY1 CIT CKAP2L CLCN3 CLCN6 CLCN7 CLDN1 CLEC7A CLIP2 CLMP CLN3 CLP1 CNBP CNOT2 CNOT3 CNP COG4 COG5 COG6 COG7 COL11A1 COL11A2 COL14A1 COL17A1 COL18A1 COL1A2 COL25A1 COL3A1 COL7A1 COLEC10 COLEC11 COPB1 COX5A COX7B CPLANE1 CPLX1 CPOX CPT2 CR2 CREBBP CRIPT CRKL CSF1R CSGALNACT1 CSNK2A1 CSPP1 CST6 CSTA CSTB CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNNB1 CTNND1 CTNS CTSC CTSK CTU2 CUL4B CUL7 CWC27 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP11B1 CYP17A1 CYP19A1 CYP4F22 DCAF17 DCLRE1B DCLRE1C DCT DDB1 DDB2 DDX3X DDX6 DEAF1 DENND5A DHCR7 DHX30 DHX37 DICER1 DKC1 DLK1 DLL4 DLX3 DLX4 DMPK DMRT3 DMXL2 DNA2 DNAJC21 DNAJC30 DNASE1 DNMT3A DNMT3B DOCK6 DOCK7 DOLK DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPP9 DPYD DPYSL5 DSC2 DSC3 DSG1 DSG2 DSG4 DSP DST DSTYK DTNBP1 DUSP6 DUX4 DUX4L1 DVL1 DVL3 DYNC2LI1 EBF3 EBP ECE1 ECEL1 ECM1 EDA EDA2R EDAR EDARADD EDEM3 EDN3 EDNRA EDNRB EED EFNB1 EGFR EHMT1 EIF4H EIF5A ELMO2 ELN EMC1 EMC10 ENG ENPP1 EOGT EP300 EPG5 EPS8L3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 ESR1 ETS1 EVC EVC2 EXOC8 EXOSC2 EXT1 EXT2 EZH2 FAM111B FAM149B1 FAM20C FAR1 FAS FAT4 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FCGR2B FCGR3B FDFT1 FERMT1 FEZF1 FGD1 FGF10 FGF17 FGF3 FGF5 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP6 FKRP FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FOCAD FOS FOXA2 FOXC2 FOXE1 FOXG1 FOXL2 FOXN1 FOXP1 FOXP2 FOXP3 FRA10AC1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FRMPD4 FSHB FSHR FTL FTO FUCA1 FUT8 FZD2 FZD6 GABRA3 GABRD GAD1 GAN GATA1 GATA4 GATAD2B GDF11 GDF3 GDF5 GDF6 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GJC2 GLB1 GLI1 GLI2 GLI3 GMPPA GNA11 GNA14 GNAO1 GNAS GNB2 GNE GNPTAB GNRH1 GNRHR GNS GON7 GORAB GPC3 GPC4 GPR101 GPRASP2 GRHL2 GRIN1 GRIP1 GRM7 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB H1-4 H3-3A H3-3B H4C11 H4C5 H4C9 H6PD HBA1 HBA2 HCCS HDAC4 HDAC8 HEATR3 HECTD4 HECW2 HEPHL1 HERC1 HERC2 HESX1 HFE HGD HGSNAT HHAT HID1 HIVEP2 HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HMGA2 HNF1B HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA13 HOXC13 HPD HPDL HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HR HRAS HRURF HS2ST1 HS6ST1 HSD3B2 HSPA9 HSPG2 HTRA1 HUWE1 HYLS1 HYMAI HYOU1 IARS2 IDS IDUA IFIH1 IFNG IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IGF1 IGF1R IGF2 IGHG1 IHH IKBKG IL10 IL11RA IL17F IL17RA IL17RC IL1RAPL1 IL2RA IL2RG IL36RN IL6ST IL7R INPP5E INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IRAK1 IRF5 IRF6 IRX5 ITGA3 ITGA6 ITGAM ITGB4 ITGB6 ITPR2 JARID2 JAZF1 JUP KANK2 KANSL1 KAT5 KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDM4B KDM5C KDM6A KDSR KEAP1 KIAA0319L KIAA0586 KIAA0753 KIF11 KIF15 KIF1A KIF26A KIF7 KIFBP KISS1 KISS1R KIT KITLG KLF13 KLHL24 KLLN KMT2A KMT2B KMT2C KMT2D KMT5B KNL1 KNSTRN KRAS KREMEN1 KRT1 KRT10 KRT14 KRT16 KRT17 KRT25 KRT5 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 KRT9 LAMA3 LAMB3 LAMC2 LAMTOR2 LARP7 LAS1L LEMD3 LETM1 LHB LHCGR LHX4 LIFR LIG4 LIMK1 LIPH LIPN LMBRD2 LMNA LMNB1 LMNB2 LMX1B LORICRIN LPAR6 LRMDA LRP1 LRP2 LRP4 LRPPRC LSS LTBP1 LTBP3 LTV1 LUZP1 LYST LZTFL1 LZTR1 MAB21L1 MAB21L2 MACROH2A1 MAD1L1 MADD MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MBD5 MBTPS2 MC1R MCCC2 MCTP2 MDM2 MECP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEN1 MEOX1 MESD METTL27 MGAT2 MGMT MGP MID1 MITF MKKS MKRN3 MKS1 MLH1 MLPH MLXIPL MMP1 MMP14 MMP2 MMP23B MN1 MOGS MPLKIP MRAS MRPS22 MSH2 MSH4 MSTO1 MSX1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTAP MTHFS MTOR MTX2 MVK MYH3 MYO18B MYO5A MYOF NAA10 NAF1 NAGLU NANS NBAS NBN NCAPG2 NCF1 NDN NDST1 NDUFA12 NDUFA6 NDUFAF6 NDUFB11 NECTIN1 NECTIN4 NEK1 NEK9 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFIB NFIX NFKB1 NFKB2 NFKBIA NHLH2 NHP2 NIPAL4 NIPBL NKX6-2 NLRP1 NMNAT1 NOG NOP10 NOTCH1 NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NPM1 NPR2 NR0B1 NR2F1 NR3C1 NR5A1 NRAS NRCAM NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NTRK1 NUDT2 NUP107 NUP188 NUP85 NUS1 NXN OAT OBSL1 OCA2 OCRL ODC1 OFD1 OGT ORC1 ORC6 OTUD5 OTUD6B OTX2 P4HA2 PACS1 PACS2 PADI3 PAH PAK2 PAPSS2 PARN PAX3 PAX9 PCDHGC4 PCGF2 PCNT PCSK1 PDCD1 PDCD6IP PDE11A PDE4D PDE6D PDGFRB PDPN PEPD PERP PEX1 PEX19 PEX2 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PHF6 PHF8 PHGDH PHIP PHYH PI4KA PIBF1 PIEZO1 PIGA PIGB PIGF PIGG PIGK PIGL PIGN PIGO PIGP PIGQ PIGS PIGU PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX1 PKP1 PLAA PLAG1 PLAGL1 PLCD1 PLEC PLK4 PLOD3 PLXNA1 PNKP PNPLA1 PNPLA6 POC1A POFUT1 POGLUT1 POGZ POLA1 POLR1B POLR1C POLR1D POLR3A POLR3H POMC POMP POP1 POR PORCN POT1 POU1F1 PPARG PPM1B PPM1D PPOX PPP1CB PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PQBP1 PRDM13 PRDM16 PRDM5 PREPL PRIM1 PRKACA PRKACB PRKAR1A PRKCD PRKCZ PRKD1 PRKG2 PRMT7 PROK2 PROKR2 PROP1 PRPS1 PRR12 PRRX1 PSENEN PSMB8 PSMC1 PSMC3 PSMC3IP PSMD12 PTCH1 PTDSS1 PTEN PTPN11 PTPN22 PTPRF PUF60 PURA PUS1 PUS7 PWAR1 PWRN1 PXK PYCR1 PYCR2 RAB18 RAB27A RAB3GAP1 RAB3GAP2 RAB7A RAC1 RAC3 RAD21 RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RASA2 RBBP8 RBCK1 RBL2 RBM10 RBM28 RBPJ RECQL RECQL4 RERE RET RETREG1 RFC2 RHOA RHOBTB2 RIN2 RIPK4 RIT1 RLIM RMRP RNF113A RNF125 RNF13 RNF2 RNU12 RNU4ATAC ROBO1 ROR2 RPA1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL21 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RSPO1 RSPO4 RTEL1 RTL1 RUNX2 RUSC2 SALL4 SASH1 SAT1 SATB1 SATB2 SCAPER SCARF2 SCLT1 SCN1A SCN1B SCN2A SCN4A SCN9A SCNM1 SCO2 SCUBE3 SDCCAG8 SDR9C7 SEC23A SEC23B SEC31A SEMA3E SET SETBP1 SETD1B SETD2 SETD5 SF3B1 SF3B4 SGSH SH2B1 SHANK3 SHMT2 SHOC2 SHOX SHROOM4 SIAH1 SIK1 SIM1 SIN3A SIN3B SKI SKIC2 SKIC3 SLC12A6 SLC17A5 SLC1A3 SLC1A4 SLC24A4 SLC24A5 SLC25A12 SLC25A22 SLC25A24 SLC27A4 SLC29A3 SLC2A1 SLC30A2 SLC30A9 SLC32A1 SLC35A2 SLC35C1 SLC35D1 SLC39A4 SLC3A1 SLC45A1 SLC45A2 SLC5A6 SLC6A1 SLC6A17 SLC6A9 SLC7A7 SLC9A6 SLC9A7 SLCO2A1 SLITRK1 SLURP1 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMOC1 SMPD4 SMS SNAI2 SNORD115-1 SNORD116-1 SNRPE SNRPN SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX3 SOX4 SOX6 SOX9 SPATA5 SPATA5L1 SPECC1L SPEN SPIDR SPINK5 SPOP SPP1 SPRED1 SPRED2 SPRTN SPRY4 SPTBN1 SRA1 SRCAP SRD5A2 SRD5A3 SREBF1 SRY ST14 STAG1 STAG2 STAMBP STAT3 STAT4 STIM1 STING1 STK11 STN1 STRADA STT3A STUB1 STX1A STXBP1 SUCLA2 SUFU SULT2B1 SUMF1 SUOX SUPT16H SUZ12 SVBP SYNGAP1 SYT1 SZT2 TAC3 TACR3 TAF1 TAF6 TAFAZZIN TALDO1 TARS1 TASP1 TAT TBC1D20 TBC1D24 TBCD TBCK TBL1XR1 TBL2 TBX15 TBX2 TBX3 TBX4 TCF12 TCF4 TCHH TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TELO2 TENT5A TERC TERF2IP TERT TET2 TFAP2A TFAP2B TFE3 TGDS TGM1 TGM3 TGM5 THOC6 THUMPD1 TIMM50 TINF2 TLK2 TLR7 TMCO1 TMEM138 TMEM147 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TNFAIP3 TNFRSF1B TNFSF11 TNFSF4 TNIP1 TOE1 TOGARAM1 TOPORS TP53 TP63 TRAC TRAF3IP2 TRAF6 TRAF7 TRAIP TRAPPC10 TRAPPC9 TREX1 TRIM32 TRIM8 TRIO TRMT1 TRMT10A TRNT1 TRPM3 TRPS1 TRPV3 TRRAP TSC1 TSC2 TSPAN7 TSPEAR TSR2 TTC5 TTC7A TTC8 TTI2 TUBB TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TYMS TYR TYRP1 UBA2 UBE2A UBE2L3 UBE3A UBE3B UBE4B UBR1 UBR7 UFC1 UGDH UGP2 UMPS UQCC2 UQCRFS1 UROD UROS USB1 USP48 USP8 USP9X VAC14 VAMP7 VARS1 VDR VEGFC VPS13B VPS33A VPS35L VPS37A VPS37D VPS51 WAC WARS1 WASHC4 WASHC5 WBP11 WDPCP WDR11 WDR19 WDR26 WDR35 WDR45 WDR73 WDR81 WLS WNK1 WNT10A WNT10B WNT4 WNT5A WNT7A WRAP53 WRN WT1 WWOX XPA XPC XRCC4 XYLT1 XYLT2 YARS2 YY1 ZBTB18 ZBTB20 ZC4H2 ZEB2 ZFHX4 ZFPM2 ZIC1 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZMYND11 ZNF141 ZNF292 ZNF341 ZNF407 ZNF423 ZNF462 ZNF469 ZNF699 ZNF711 ZNRF3 ZPR1 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY ABCA12 ABCC8 ADAT3 AIP ALDOB ALOX12B ALOXE3 ALPK1 ALX4 ARNT2 ARX ATL1 ATL3 ATP1A2 ATP1A3 BCL10 BCS1L BIRC3 BOLA3 BRAF CACNA1A CACNA1S CAMK2B CASK CCND1 CDH23 CDH3 CDKN2A CDSN CERS3 CFTR CLCF1 CLCN6 CLCNKB CLDN10 COG6 COL11A1 COL17A1 COL25A1 COL6A1 COL6A2 COL6A3 COQ2 CRLF1 CST6 CSTB CTC1 CTNNB1 CTNS CTSB CUL4B DDC DKC1 DLST DNMT3A DPP9 DSG1 DST EDA EDA2R EDAR EDARADD ELOVL4 ELP1 EPAS1 ERCC4 ERCC6 ERCC8 FAM111B FGFR1 FGFR2 FH FLG FLRT1 FOXP1 FUCA1 GABRA3 GHR GJB2 GJB6 GLA GMPPA GNA14 GPR101 GRB10 H19 HESX1 HEXB HINT1 HLA-B HLA-DRB1 HMBS HNF1A HNF4A HNRNPK HPGD HRAS IGF2 IGHMBP2 IKBKG IL12B IL6ST ITPR2 JAK2 JUP KCNA1 KCNJ11 KCNJ18 KCTD1 KDF1 KIF1A KIF1B KLC2 KLHL7 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT9 LAMB3 LIFR LMNB1 LPAR6 MADD MALT1 MAP2K1 MAP2K2 MAX MBTPS2 MDH2 MEN1 MLX MPL NECTIN1 NF1 NFKBIA NGF NGLY1 NHP2 NIPAL4 NLRP3 NOP10 NPM1 NTRK1 OTX2 P4HA2 PARN PAX9 PERP PHOX2B PKP1 PLAA PNPLA1 POLA1 PRDM12 PRKAR1A PRNP PROKR2 PTPN22 RET RETREG1 RIPK4 ROGDI RSPO1 RTEL1 RYR1 SCN11A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SERPINB7 SHANK3 SHQ1 SLC12A3 SLC13A5 SLC18A2 SLC1A3 SLC25A11 SLC39A14 SLCO2A1 SLURP1 SMARCAD1 SOX10 SOX2 SOX3 SPR SPRED2 SPTLC1 SPTLC2 ST14 STIM1 STS SUCLA2 SUCLG1 SULT2B1 TAT TERC TERT TGM1 THPO TINF2 TMEM127 TP53 TP63 TRAF6 TRANK1 TRIP4 TRPV3 TSPEAR TYMS UCP2 USB1 VHL WNK1 WNT10A WRAP53 YY1 ZFHX2 ZFHX4 ZNRF3 HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY AARS1 ABCA12 ABCB11 ABCB4 ABCC6 ABCC9 ACADVL ACP5 ADA ADA2 ADAM17 ADAMTS3 ADAR AGA AIP AIRE AK2 ALOX12B ALOXE3 ANGPT2 ANK1 AP1B1 AP1S3 AP3B1 APOA1 AQP5 AR ARHGEF2 ARMC5 ARPC1B ARVCF ASPRV1 ASXL1 ATP2A2 ATP7B ATP8B1 ATRX AUTS2 B2M B4GALT1 BANK1 BCL11B BLK BLM BLNK BLOC1S6 BRAF BRCA1 BRCA2 BTD BTK BTNL2 C1QB C1QC C4A C4B C5 CACNA1G CAMK2B CARD11 CARD14 CARD9 CARMIL2 CARS1 CASP10 CASP8 CASR CAST CBL CCBE1 CCDC47 CCR1 CD247 CD28 CD3D CD3E CD3G CD40LG CD79A CD79B CDH23 CDK10 CDSN CERS3 CFI CFTR CHD7 CHST14 CHST8 CIB1 CIC CIITA CLDN1 CLEC7A CLN3 CLPB CLTRN COL7A1 COMT CORO1A COX4I2 CR2 CST6 CSTA CTLA4 CTNNB1 CTSB CTSC CYBA CYBB CYBC1 CYP11B1 CYP4F22 DCDC2 DCLRE1C DDX41 DHCR7 DIP2B DNAJC21 DNASE1 DNASE1L3 DNASE2 DOCK2 DOCK8 DOLK DPP9 DSE DSG1 DSG4 DSP EBP ECM1 EDA EDAR EDARADD EFL1 EGFR ELANE ELF4 ELOVL4 ENPP1 EPAS1 EPB42 EPG5 EPHB4 EPOR ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ESR1 ETS1 EXTL3 FAM111B FAS FAT4 FCGR2A FCGR2B FCGR3B FDPS FECH FERMT1 FERMT3 FGA FGFR2 FH FLG FLG2 FLI1 FLT4 FOCAD FOXC2 FOXN1 FOXP1 FOXP3 G6PC3 GATA1 GATA3 GFI1 GGT1 GINS1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GNA11 GNAS GNB2 GP1BB GPNMB GPR101 GPR35 GSN GTF2E2 GTF2H5 H3-3B H6PD HDAC4 HIRA HLA-B HLA-C HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HPGD HSD3B7 HSPA9 HYOU1 IFIH1 IFNG IFNGR1 IGHG1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF3 IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12RB1 IL17F IL17RA IL17RC IL1R1 IL1RN IL21R IL23R IL2RA IL2RG IL31RA IL36RN IL4R IL6 IL6R IL6ST IL7 IL7R IPO8 IRAK1 IRF2BP2 IRF5 ITGA6 ITGAM ITGB2 ITGB4 IVNS1ABP JAK1 JAK2 JAK3 JAZF1 JMJD1C KANSL1 KARS1 KDF1 KDSR KIAA0319L KIF11 KIF12 KIT KLRC4 KNSTRN KRT1 KRT10 KRT14 KRT17 KRT5 KRT74 LACC1 LAMA3 LAMB3 LAMC2 LBR LCK LCP2 LDHA LEMD3 LGI3 LHCGR LIG1 LIG4 LIPA LIPN LMBRD1 LPIN2 LRBA LRP1 LRRC32 LRRC8A LSM11 LSS LYST LYZ MALT1 MBL2 MBTPS2 MC1R MCCC2 MECP2 MED12 MEFV MEIS2 MIA3 MIF MMEL1 MMP1 MNX1 MORC2 MPDU1 MPEG1 MPL MPLKIP MRTFA MS4A2 MSMO1 MSN MST1 MTHFD1 MVD MVK MYD88 MYO5B MYSM1 NAA10 NAE1 NAXD NBEA NCF1 NCF2 NCF4 NCKAP1L NCSTN NEK9 NFE2L2 NFKB1 NFKB2 NFKBIA NIPAL4 NLRC4 NLRP12 NLRP3 NOD2 NR1H4 NR3C1 NRAS NSMCE3 NSUN2 NUP107 OSMR OTULIN PAH PAPSS2 PCCA PCCB PDCD1 PDGFRA PEPD PERP PGM2L1 PGM3 PI4KA PIEZO1 PIGA PIK3CA PIK3CD PIK3CG PIK3R1 PKHD1 PKP1 PLA2G7 PLCG2 PLEC PMVK PNPLA1 PNPLA2 POFUT1 POGLUT1 POLE POLR3A POMP POU2AF1 PRDM12 PRF1 PRKACA PRMT7 PRTN3 PSEN1 PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSTPIP1 PTPN22 PTPN3 PTPRC PXK RAC1 RAG1 RAG2 RBCK1 RBM8A RBP4 RELB RFX5 RFX7 RFXANK RFXAP RIPK1 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNU12 RNU4ATAC RNU7-1 RORC RRAS2 RREB1 RTTN RUNX1 SAMHD1 SASH3 SAT1 SBDS SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHB SDHC SDR9C7 SEC24C SEMA4D SEMA7A SH3PXD2B SHANK3 SHOC2 SIK3 SIN3A SLC17A9 SLC27A4 SLC29A3 SLC30A2 SLC39A4 SLC39A7 SLC4A1 SLC6A19 SLCO1B1 SLCO1B3 SLCO2A1 SLF2 SLURP1 SMARCA2 SMARCAD1 SMARCC2 SMG8 SP110 SPI1 SPIB SPINK5 SPP1 SPTA1 SPTB SRCAP SRD5A3 SREBF1 SRP19 SRP54 SRSF2 ST14 STAT1 STAT3 STAT4 STAT5B STING1 STK4 STX11 STX3 STXBP2 SULT2B1 SUOX SYK TAF1 TARS1 TBC1D2B TBCK TBX1 TCF3 TCF4 TCIRG1 TEK TET2 TFRC TGFB1 TGM1 TGM5 THPO TJP2 TKT TLR4 TLR7 TLR8 TMC6 TMC8 TNFAIP3 TNFRSF1A TNFRSF1B TNFSF15 TNFSF4 TNIP1 TNPO3 TOM1 TOP3A TP53 TP63 TPR TRAC TRAF3IP2 TRAF6 TREX1 TRPM4 TRPV3 TTC7A UBA1 UBAC2 UBE2A UBE2L3 UFD1 UNC13D UNC45A UROD UROS USB1 USP48 USP53 USP8 VIPAS39 VPS33B WAS WDR1 WIPF1 WNT4 XIAP XPNPEP2 XYLT1 ZAP70 ZFYVE19 ZNF341 ZNF750 ZNFX1 HP_ABNORMALITY_OF_SKIN_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PIGMENTATION AAAS AARS1 ABCB6 ABCC9 ABCD1 ACD ACP5 ACTB ADAR ADH5 AIP AIRE AKT1 ALAS2 ALDH3A2 ALG3 ANAPC1 ANKLE2 ANTXR1 ANTXR2 AP3B1 AP3D1 APC APC2 APOE ARL6IP6 ARVCF ATM ATP10A ATP2A2 ATP6V1B2 ATP7A ATRX B4GALT7 BANF1 BAP1 BLM BLOC1S3 BLOC1S5 BLOC1S6 BMP2 BMP6 BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 BUB1 BUB1B BUB3 C1R C1S CACNA1F CARD14 CARS1 CASR CAT CAV1 CBL CBS CCN2 CCR6 CD28 CDH23 CDH3 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEP57 CHN1 CHRNA7 CIB1 CLCN7 CLTRN COL17A1 COL25A1 COL3A1 COL7A1 COMT COPB1 COX7B CPOX CREBBP CRIPT CSTA CTC1 CTLA4 CTNNBL1 CTNS CTSC CWC27 CXCR4 CYBA CYBB CYBC1 CYP11A1 CYP11B1 DCLRE1C DCPS DCT DDB2 DDX11 DDX3X DHX30 DKC1 DNAJC21 DNASE1L3 DPP9 DST DSTYK DTNBP1 DUOX2 EBP EDA EDAR EDARADD EDN3 EDNRB EED EMC1 EP300 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FBN1 FERMT1 FGFR1 FGFR2 FGFR3 FKBP10 FLNA FOXD3 GALC GATA1 GBA1 GJA1 GJB3 GJB4 GJB6 GMPPA GNA11 GNAQ GNAS GNB2 GNPTAB GP1BB GPNMB GPR101 GPR143 GTF2E2 GTF2H5 H4C5 HAMP HBB HCCS HEPACAM HERC2 HFE HGD HIRA HJV HLA-DRB1 HMGA2 HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HSD3B2 IDUA IFNG IGF1 IGF2 IKBKG IL12A IL12RB1 IL6 IL7 INSR IRF4 IRF5 ITGB4 JAK3 JMJD1C KANSL1 KAT6A KCNH1 KCNMA1 KCNN3 KDF1 KDM5C KDM6A KDM6B KDSR KIAA0319L KIF15 KIT KITLG KLHL24 KLLN KMT2D KNSTRN KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LAMTOR2 LBR LEMD3 LIFR LIG4 LIPE LMNA LRBA LRMDA LTV1 LYST LZTR1 MAD2L2 MAFB MAGEL2 MAN1B1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MAX MC1R MC2R MCM4 MED12 MEN1 MGMT MITF MKRN3 MLH1 MLPH MMEL1 MMP2 MPL MPLKIP MRAP MRAS MSH2 MSH6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTOR MYO5A NBN NCF1 NCF2 NCF4 NDN NDUFB11 NF1 NF2 NFIX NFKB2 NHP2 NLRP1 NNT NOD2 NOP10 NOTCH3 NPAP1 NPM1 NR0B1 NR3C1 NRAS NSD1 NSUN2 OCA2 OCRL PAH PALB2 PANK2 PARN PAX3 PAX6 PCGF2 PCNT PCSK1 PDE11A PDE4D PDGFRA PDGFRB PHIP PIDD1 PIGA PIGN PIK3CA PIK3CD PLAG1 PLCG2 PLEC PLXND1 PMS2 POFUT1 POGLUT1 POGZ POLA1 POLE POLH POMC PORCN POT1 POU2AF1 PPOX PPP1CB PRKAR1A PROC PROS1 PSAP PSENEN PSMB8 PTCH1 PTCH2 PTEN PTPN11 PTPN22 PWAR1 PWRN1 RAB27A RAD51 RAD51C RAF1 RASA2 RBBP8 RBM28 RECQL4 RERE RET REV3L RFWD3 RFX7 RIT1 RNF113A RPA1 RPS27 RRAS RRAS2 RREB1 RTEL1 SALL4 SASH1 SDHA SDHB SDHC SDHD SEC23A SEC23B SEC24C SET SETBP1 SETD2 SGPL1 SH3PXD2B SHOC2 SIM1 SKIC2 SKIC3 SLC17A5 SLC24A5 SLC27A4 SLC29A3 SLC35A2 SLC40A1 SLC45A2 SLC6A19 SLC9A1 SLCO1B1 SLCO1B3 SLF2 SLX4 SMARCA2 SMARCAD1 SMARCAL1 SMG8 SMO SMS SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOS2 SOX10 SOX18 SPIB SPINK5 SPRED1 SPRED2 SPTBN1 SRD5A3 ST3GAL5 STAR STEAP3 STK11 SUFU SUZ12 SVBP TARS1 TBX1 TCF4 TERC TERF2IP TERT TFE3 TFR2 TGM5 THPO TINF2 TMC6 TMC8 TMEM127 TNFRSF11A TNFRSF11B TNFRSF1A TNFRSF1B TNFSF15 TNPO3 TOE1 TOP3A TP53 TP53RK TP63 TRAC TRAF6 TRAPPC11 TRIP13 TRPM1 TSC1 TSC2 TUBB TUBGCP6 TWIST2 TXNRD2 TYMS TYR TYRP1 UBE2A UBE2T UBE3A UBR1 UFD1 UROD UROS USB1 USF3 USP48 USP8 USP9X UVSSA VHL VPS13B WASF1 WBP11 WDR11 WDR45 WDR73 WRAP53 XPA XPC XRCC2 ZFHX4 ZMPSTE24 ZNF699 ZPR1 HP_ABNORMALITY_OF_SKULL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKULL_OSSIFICATION ALG9 ALPL ALX4 ANTXR1 BMPER COL1A1 COL1A2 COL2A1 CREB3L1 CRTAP CSF1R EXT2 FAM111A FGFR2 FIG4 HDAC6 HGSNAT HHAT IFT43 INTU LAMA5 LBR LMNA MPL NAGLU NOTCH2 OSTM1 P3H1 PHF21A PPIB PPP3CA RBL2 RUNX2 SEC23A SERPINH1 SGSH SLC25A19 SLC25A24 TAPT1 TBCE THPO TRIP11 TXNDC15 VAC14 VCP WNT7A ZMPSTE24 HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS ABCD1 ATXN1 CYP27A1 EPM2A GJC2 LMNB1 MARCHF6 MORC2 NHLRC1 PLP1 PRPS1 SAMD12 SEMA6B STARD7 TBC1D24 TIMM8A TTPA YEATS2 HP_ABNORMALITY_OF_SPEECH_OR_VOCALIZATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SPEECH_OR_VOCALIZATION AAAS AARS1 AARS2 AASS ABCA2 ABCA7 ABCB7 ABCD1 ABHD12 ABHD16A ACAD8 ACADM ACADS ACBD5 ACOX1 ACOX2 ACSF3 ACSL4 ACTB ACTG1 ACTL6B ADA2 ADAMTS2 ADAMTSL2 ADAR ADARB1 ADAT3 ADCY5 ADD3 ADGRG1 ADGRL1 ADH1C ADK ADNP ADPRS ADSL AFF2 AFG3L2 AGA AGO1 AGO2 AGTPBP1 AHDC1 AIFM1 AIMP1 AIMP2 AKT1 ALAD ALDH18A1 ALDH3A2 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALG11 ALG12 ALG13 ALG14 ALG2 ALG9 ALMS1 ALS2 AMACR AMER1 AMFR AMMECR1 AMN AMPD2 ANK3 ANKRD11 ANKRD17 ANO10 ANOS1 ANXA11 AP1G1 AP1S2 AP2M1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APOE APP APTX AR ARF1 ARFGEF1 ARG1 ARHGAP29 ARHGEF2 ARHGEF38 ARID1A ARID1B ARID2 ARL13B ARL6 ARMC9 ARPC4 ARSA ARV1 ARVCF ARX ASAH1 ASH1L ASPA ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATCAY ATG5 ATG7 ATL1 ATM ATN1 ATP10A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7B ATP8A2 ATP9A ATPAF1 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AUTS2 B3GALNT2 B3GALT6 B4GALNT1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL11B BCL7B BCOR BCORL1 BEAN1 BIN1 BLM BLTP1 BMP4 BMPR1A BMPR1B BPTF BRAF BRAT1 BRCA1 BRD4 BRF1 BRPF1 BRWD3 BSCL2 BTK BUD23 C12orf4 C19orf12 C2CD3 C9orf72 CA8 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1G CACNA1I CACNA2D1 CACNA2D2 CACNB4 CAD CAMK2A CAMK2B CAMK2G CAMTA1 CAPN1 CARS1 CARS2 CASK CASZ1 CBL CC2D1A CCDC103 CCDC141 CCDC174 CCDC22 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCDC88A CCDC88C CCND2 CCNF CCNK CCNO CDC42 CDH1 CDK10 CDK13 CDK19 CDKL5 CDKN1C CDON CELF2 CENPJ CEP19 CEP290 CEP63 CERS1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP74 CFH CFHR1 CFHR3 CHAMP1 CHCHD10 CHD2 CHD3 CHD5 CHD7 CHD8 CHKA CHKB CHMP1A CHMP2B CHRNA1 CHRNB1 CHRNE CHSY1 CIC CIITA CISD2 CIT CKAP2L CLCN3 CLCN4 CLDN11 CLIC2 CLIP2 CLN3 CLN5 CLN8 CLP1 CLPB CLTC CNKSR2 CNNM2 CNOT1 CNOT2 CNTNAP2 COA7 COA8 COASY COBLL1 COG1 COG4 COG5 COG6 COG8 COL1A1 COL1A2 COL3A1 COLQ COMT COPB1 COQ2 COX20 COX7B CP CPLX1 CPT1A CRADD CRAT CRBN CREBBP CRPPA CSF1R CSNK2A1 CSPP1 CSTB CTBP1 CTC1 CTCF CTNNA2 CTNNB1 CTNND2 CTSF CUBN CUL3 CUL4B CUX1 CWC27 CWF19L1 CXCR4 CYFIP2 CYLD CYP27A1 CYP7B1 DAB1 DAG1 DALRD3 DARS1 DARS2 DCAF17 DCC DCLRE1B DCPS DCTN1 DCX DDHD2 DDOST DDX6 DEAF1 DEGS1 DENND5A DEPDC5 DHDDS DHPS DHTKD1 DHX30 DIAPH1 DISP1 DLAT DLG1 DLG3 DLK1 DLL1 DLX4 DMD DMPK DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB6 DNAJC12 DNAJC13 DNAJC30 DNAJC6 DNAL1 DNM1 DNM1L DNMT3A DOCK3 DOCK6 DOCK7 DOHH DOLK DPAGT1 DPF2 DPH5 DPM2 DPP9 DPYD DPYS DPYSL5 DRC1 DRD3 DUSP6 DYM DYNC1H1 DYNC1I2 DYNC2I2 DYRK1A EARS2 EBF3 EBP EED EEF1A2 EEF2 EFTUD2 EHMT1 EIF2AK1 EIF2AK2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S3 EIF3F EIF4A3 EIF4G1 EIF4H ELN ELOVL1 ELOVL4 ELOVL5 ELP2 EMC1 EMC10 EN1 ENTPD1 EP300 EPCAM EPM2A EPRS1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC8 ERF ERLIN1 ERLIN2 ERMARD EXOSC2 EXOSC3 EXOSC5 EXT2 EXTL3 EYA1 EZH2 FA2H FAM111A FAN1 FANCF FAR1 FARS2 FAT2 FBLN1 FBXL3 FBXO11 FBXO28 FBXO7 FBXW11 FBXW7 FDXR FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FH FIBP FIG4 FKBP6 FKRP FKTN FLCN FLG FLII FLNA FLRT1 FLRT3 FMN2 FMR1 FOCAD FOXG1 FOXH1 FOXI1 FOXJ1 FOXP1 FOXP2 FOXRED1 FRA10AC1 FRMD4A FRMPD4 FRRS1L FTCD FTL FTSJ1 FUS FXN FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GALE GALNT2 GALT GAMT GAN GAS1 GAS2L2 GAS8 GATA2 GATA4 GATAD2B GATM GBA1 GBA2 GBF1 GCDH GCH1 GCLC GDAP2 GDF5 GEMIN4 GEMIN5 GET4 GFAP GFM2 GFPT1 GHR GIGYF2 GIPC1 GJA1 GJA5 GJA8 GJB1 GJC2 GLB1 GLE1 GLI2 GLRA2 GLRX5 GLS GLUD2 GLYCTK GM2A GMNN GMPPA GMPPB GNAI1 GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GOLGA2 GORAB GOSR2 GOT2 GP1BB GPAA1 GPC3 GPC4 GPR88 GPT2 GRB10 GRHL3 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRN GSN GSS GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H4C11 H4C5 HACE1 HAL HBA1 HBA2 HCCS HCN1 HCN4 HDAC4 HDAC8 HECW2 HEPACAM HEPHL1 HERC1 HERC2 HESX1 HEXB HGSNAT HHAT HID1 HIKESHI HIRA HIVEP2 HK1 HLA-B HLA-DQB1 HMBS HMGA2 HMGCL HNMT HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXA2 HOXB1 HPCA HPRT1 HS2ST1 HS6ST1 HS6ST2 HSD17B10 HSD17B4 HSPG2 HTRA1 HTT HUWE1 HYCC1 HYDIN IARS1 IFIH1 IFNG IFRD1 IFT172 IFT27 IFT74 IGF1R IGF2 IL12B IL17RD INPP5E INPP5K INTS1 INTS8 INTU IQSEC1 IQSEC2 IREB2 IRF2BPL IRF6 ISCA2 ITPA ITPR1 JAG1 JAG2 JAK2 JAM2 JMJD1C JPH3 KANSL1 KARS1 KAT6A KAT6B KAT8 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNC3 KCND3 KCNH1 KCNJ10 KCNK4 KCNMA1 KCNN2 KCNQ5 KCTD17 KCTD7 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF1A KIF1C KIF4A KIF5C KLC2 KLHL15 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KPNA3 KPTN KRAS KYNU L1CAM L2HGDH LAGE3 LAMA1 LARGE1 LAS1L LEMD3 LGI1 LIG4 LIMK1 LINGO1 LINS1 LIPT2 LMAN2L LMBRD2 LMNA LMNB1 LMNB2 LMX1B LNPK LPIN1 LRP12 LRP5 LRPPRC LRRC32 LRRC56 LRRK2 LSM11 LSS LTBP4 LUZP1 LYRM7 LZTFL1 LZTR1 MAB21L1 MACF1 MADD MAG MAGEL2 MAN1B1 MAN2B1 MAN2C1 MANBA MAP1B MAP2K1 MAP2K2 MAPK1 MAPRE2 MAPT MARS1 MARS2 MAST1 MATR3 MBD5 MBOAT7 MCIDAS MCM3AP MCOLN1 MCTP2 MDH2 MDM2 MECP2 MECR MED12 MED12L MED13 MED13L MED23 MED25 MED27 MEF2C MEG3 MEIS2 MESD METTL27 METTL5 MFF MFN2 MFSD2A MFSD8 MICOS13 MICU1 MID1 MID2 MINPP1 MKKS MKRN3 MKS1 MLH1 MLH3 MLX MLXIPL MMACHC MME MMP23B MMUT MN1 MORC2 MPDU1 MPL MPLKIP MRAS MRE11 MRPL12 MRPS14 MRPS2 MRPS34 MSH2 MSH6 MSL3 MSTO1 MSX1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFS MTO1 MTOR MTPAP MTRFR MTRR MTTP MTX2 MVK MYH3 MYH7 MYO9A MYORG MYOT MYT1L NAA10 NAA15 NAA20 NACC1 NAGS NALCN NARS1 NARS2 NAXD NAXE NBAS NBEA NBN NCAPD2 NCAPG2 NCDN NCF1 NDNF NDST1 NDUFA1 NDUFA13 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS7 NDUFS8 NEB NECAP1 NECTIN1 NEDD4L NEFH NEFL NEK1 NEK10 NEMF NEU1 NEXMIF NF1 NF2 NFASC NFE2L2 NFIB NFIX NGLY1 NHLRC1 NIPA1 NIPA2 NIPBL NKX2-1 NKX6-2 NLGN3 NLGN4X NME5 NME8 NODAL NONO NOP56 NOTCH2NLC NOTCH3 NOVA2 NPAP1 NPC1 NPC2 NPHP1 NPPA NPRL2 NPRL3 NR2F1 NR4A2 NRAS NSD1 NSDHL NSRP1 NSUN2 NTNG1 NTNG2 NTRK2 NUBPL NUDT2 NUP107 NUP54 NUP62 NUS1 NUTM2B-AS1 NXN OBSCN OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OPA1 OPA3 OPHN1 OPTN ORAI1 ORC4 ORC6 OSGEP OTOG OTUD6B OXR1 P4HB PABPN1 PACS1 PACS2 PAK1 PAK3 PANK2 PARS2 PAX1 PAX6 PBX1 PCDH19 PCGF2 PCNA PCNT PCYT2 PDE10A PDE2A PDE4D PDE8B PDGFB PDGFRA PDGFRB PDPN PDYN PEX1 PEX10 PEX12 PEX16 PEX2 PEX6 PFN1 PGAP1 PGAP2 PGAP3 PGK1 PGM2L1 PGM3 PHF21A PHF8 PHKA2 PHKB PHKG2 PI4KA PIEZO2 PIGA PIGC PIGF PIGG PIGH PIGM PIGN PIGO PIGP PIGS PIGV PIGW PIK3C2A PIK3CA PIK3R1 PIK3R5 PLA2G6 PLAA PLAG1 PLCH1 PLD3 PLEC PLEKHG4 PLK4 PLP1 PLPBP PMM2 PMPCA PMPCB PMS1 PMS2 PNKD PNKP PNPLA6 PNPLA8 PNPT1 POC1A PODXL POGZ POLD1 POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3B POLR3GL POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR POT1 POU3F3 POU4F1 PPFIBP1 PPIL1 PPM1D PPP1CB PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R2B PPP2R5D PPP3CA PPT1 PRDM16 PRDM8 PRDX3 PRICKLE1 PRKAR1B PRKCG PRKCZ PRKD1 PRKRA PRMT7 PRNP PRODH PROK2 PROKR2 PRPH PRPS1 PRR12 PRRT2 PRUNE1 PSAP PSEN1 PSEN2 PSMB1 PSMC1 PSMD12 PSMG2 PTCH1 PTEN PTPN11 PTS PUF60 PUM1 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB39B RAB3GAP2 RAB5IF RAC1 RAD21 RAF1 RAI1 RALA RALGAPA1 RANBP2 RARS1 RARS2 RASA2 RBBP8 REEP1 REEP2 RELN REPS1 RERE RFC1 RFC2 RFX5 RFX7 RFXANK RFXAP RHOBTB2 RIC1 RILPL1 RIMS2 RIN2 RIT1 RLIM RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF170 RNF216 RNF220 RNU12 RNU7-1 ROGDI RORA RORB RPGR RPIA RPL10 RPS20 RPS6KA3 RRAS RRAS2 RREB1 RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RSRC1 RTL1 RTTN RUBCN RUSC2 RYR1 RYR3 SACS SAMD9L SAMHD1 SARDH SASS6 SATB1 SATB2 SCAPER SCARB2 SCLT1 SCN1A SCN3A SCN4A SCN5A SCN8A SCNM1 SCO2 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SEC23A SEC24C SEC24D SEC31A SELENOI SELENON SEMA3A SEMA4A SEMA5A SEMA6B SEPTIN9 SERAC1 SERPINH1 SERPINI1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SETX SF3B4 SFXN4 SGCB SH2B1 SH3TC2 SHANK3 SHH SHMT2 SHQ1 SHROOM4 SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SIX3 SKI SLC12A2 SLC12A6 SLC13A3 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A12 SLC25A15 SLC25A36 SLC25A4 SLC25A42 SLC25A46 SLC26A4 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC35A1 SLC35A2 SLC35B2 SLC38A3 SLC39A14 SLC39A8 SLC44A1 SLC6A1 SLC6A17 SLC6A19 SLC6A3 SLC6A8 SLC7A6OS SLC9A1 SLC9A6 SLC9A7 SLITRK2 SMAD6 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMS SNAP25 SNCA SNCAIP SNORD115-1 SNORD116-1 SNORD118 SNRPN SNX14 SOBP SOD1 SORL1 SOS1 SOS2 SOX10 SOX11 SOX4 SOX5 SOX6 SPAG1 SPARC SPART SPAST SPATA5 SPEF2 SPEG SPEN SPG11 SPG21 SPG7 SPOP SPR SPRED1 SPRED2 SPRY4 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SQSTM1 SRCAP SRPX2 ST3GAL5 STAC3 STAG1 STAG2 STAT5B STIL STIM1 STK36 STRADA STS STT3A STUB1 STX1A STX1B STXBP1 SUFU SUOX SUPT16H SUZ12 SVBP SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAF2 TAF6 TAF8 TANC2 TANGO2 TAOK1 TARDBP TARS1 TAT TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX4 TBXAS1 TCEAL1 TCF20 TCF4 TCOF1 TCTN2 TDGF1 TDO2 TDP1 TECPR2 TECR TELO2 TENM3 TENT5A TERT TET3 TFAP2A TFE3 TGFB1 TGFBR2 TGIF1 TGM6 TH THAP1 THG1L THOC2 THOC6 THPO THRB THUMPD1 TIA1 TIAM1 TICAM1 TIMM50 TIMM8A TINF2 TK2 TKFC TKT TLK2 TLR3 TM4SF20 TMCO1 TMEM106B TMEM147 TMEM163 TMEM222 TMEM231 TMEM240 TMEM270 TMEM63C TMEM94 TMLHE TMTC3 TNIK TNNT1 TNPO2 TNR TNRC6B TOE1 TOGARAM1 TOMM40 TOP3A TOR1A TP53RK TP63 TPK1 TPP1 TPRN TRAF3 TRAF7 TRAK1 TRANK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC2L TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM32 TRIM37 TRIM8 TRIO TRIP12 TRIP4 TRIT1 TRMT1 TRMT10A TRMT5 TRPM3 TRPS1 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSHR TSPAN7 TSPOAP1 TTBK2 TTC12 TTC19 TTC5 TTC8 TTI2 TTN TTPA TTR TUBA8 TUBB TUBB2A TUBB3 TUBB4A TUBG1 TWIST1 TWIST2 TWNK TYROBP UBA1 UBA2 UBA5 UBAP1 UBB UBE2A UBE3A UBE3B UBE3C UBE4A UBE4B UBQLN2 UBTF UCHL1 UFC1 UFD1 UFM1 UFSP2 UGP2 UGT1A1 UNC80 UNC93B1 UPB1 UPF3B UQCC2 UQCRQ UROC1 USP27X USP7 USP9X VAC14 VAMP1 VAPB VARS1 VCP VLDLR VPS11 VPS13A VPS13B VPS13D VPS33A VPS35 VPS35L VPS37A VPS37D VPS41 VPS4A VWA3B WAC WARS1 WARS2 WASF1 WASHC4 WASHC5 WDPCP WDR11 WDR26 WDR37 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WFS1 WIPI2 WLS WRN WWOX XK XPR1 XRCC1 XRCC4 XYLT1 YARS1 YIF1B YME1L1 YWHAG YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB7A ZC4H2 ZDHHC9 ZEB2 ZFYVE26 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF148 ZNF292 ZNF407 ZNF462 ZNF592 ZNF711 ZSWIM6 HP_ABNORMALITY_OF_SPINAL_FACET_JOINT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SPINAL_FACET_JOINT AEBP1 CCL2 FUZ TBXT VANGL1 VANGL2 HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE ADAMTS2 ADAMTSL2 AGPAT2 AKT1 ALG8 ALMS1 ARMC5 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX BMPR1A BRAF BSCL2 CAV1 CDH23 CDKN1B COL1A1 COL1A2 ERCC6 ERCC8 FBN1 FGFR1 FH GNAS GNB2 H4C5 IGF1R INSR KCNJ6 KCNK9 LEMD2 LMNA MEN1 NAA10 NR3C1 PDE11A PHGDH PIK3CA PLIN1 PMM2 POLR3A PPARG PPP1R15B PRKACA PRKAR1A PTEN PTF1A RBM28 SKI SLC25A24 SLC2A2 SOX18 TBL1XR1 TGFB1 TGFB3 TOP3A TP53 TRMT10A USP48 USP8 ZMPSTE24 HP_ABNORMALITY_OF_SUPEROXIDE_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SUPEROXIDE_METABOLISM CYBA CYBB NADK2 NCF1 NCF2 HP_ABNORMALITY_OF_TASTE_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TASTE_SENSATION ELP1 KIF1A RETREG1 SCN9A SLC39A4 TRANK1 WNK1 HP_ABNORMALITY_OF_TEMPERATURE_REGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION ABCA12 ABCC2 ABCC6 ABL1 ACADSB ACADVL ACAT1 ACTN4 ADA ADA2 ADAMTS13 ADAR AK2 ALDOA ALG11 ALOXE3 ALPK1 ALPL ANK1 ANKFY1 ANKRD55 ANLN AP1S3 APOL1 AQP2 ARHGAP24 ARHGDIA ARL3 ASAH1 ASXL1 ATM ATP13A2 ATP1A2 ATP2A1 ATP5F1B ATP7A ATXN3 AVP AVPR2 BACH2 BCAP31 BCL10 BCL2 BCL6 BCOR BCR BIN1 BIRC3 BLNK BRAT1 BRCA1 BRCA2 BTK BTNL2 C1QB C2orf69 C3 C4A CACNA1A CACNA1C CACNA1S CALR CASK CCND1 CCR1 CD244 CD247 CD27 CD2AP CD3D CD3E CD70 CD79A CD79B CDON CEBPE CFH CFHR1 CFHR3 CFTR CHD7 CHEK2 CHRNA1 CHRND CHRNG CIITA CLCF1 CLCN6 CLCN7 CLDN10 CLEC7A CLPB COA6 COG6 COG7 COL1A1 COL4A3 COQ8B COQ9 CPOX CPT2 CR2 CRB2 CRLF1 CRLS1 CTLA4 CTRC CYBA CYBB CYBC1 CYP11B2 CYP21A2 DAAM2 DBH DCLRE1C DDB2 DDC DEF6 DGUOK DIS3L2 DISP1 DLL1 DNASE2 DNM2 DOCK2 DPP9 DST DUOX2 DUOXA2 EDA EDAR EDARADD EIF2AK3 EIF2B1 ELANE ELF4 ELP1 EMP2 ENPP1 EPB41 EPB42 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 F5 FAH FAS FBP1 FCGR3B FGF8 FGFR1 FIP1L1 FOCAD FOXH1 FOXP1 G6PD GAA GABRA2 GALC GAPVD1 GAS1 GATA2 GCH1 GFI1 GLA GLI2 GPC3 GPR35 GYPC H19 H4C5 HAVCR2 HBB HEPHL1 HERC2 HESX1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HNRNPK HSPG2 HTR1A IBA57 IFIH1 IFNG IFNGR1 IGHM IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL1R1 IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL6R IL6ST IL7R INF2 IRAK1 IRF2BP2 IRF4 IRF8 ITK ITPR2 IYD JAK2 KCNJ1 KDF1 KIF1B KIT KLHL7 KLRC4 KRT14 KRT18 KRT5 LACC1 LAMA3 LAMB3 LAMC2 LBR LBX1 LCK LDHA LHX3 LHX4 LIFR LIG4 LIPA LMNB1 LPIN1 LPIN2 LRRC8A LSM11 LYST MADD MAGEL2 MAGI2 MALT1 MAP2K1 MAP2K2 MBTPS2 MCM10 MEFV MICOS13 MIF MKRN3 MLX MMACHC MPL MRPS7 MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTHFS MTMR14 MVK MYD88 MYF6 MYH3 MYO1E MYO1H NAB2 NABP1 NALCN NAXD NCF1 NCF2 NCF4 NDUFA2 NECTIN4 NFKBIA NFKBIL1 NGF NGLY1 NKX2-1 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NODAL NPAP1 NPHS1 NPHS2 NPM1 NTRK1 NUAK2 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OCA2 ORAI1 OTULIN P4HA2 P4HTM PAX2 PAX8 PEX6 PGM1 PHOX2B PIK3CG PIK3R1 PKHD1 PLA2G6 PLCE1 PLCH1 PML PMM2 PMP22 POFUT1 POGLUT1 POLR3A POMP POU1F1 POU6F2 PRF1 PRKAR1A PRKCD PRNP PROP1 PRSS1 PRSS2 PRTN3 PSAP PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTCH1 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTS PWAR1 PWRN1 QDPR RAB27A RAG1 RAG2 RANBP2 RARA RB1 RBCK1 REL REST RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNU4ATAC RNU7-1 RUNX1 RYR1 SAMHD1 SAT1 SCN10A SCN11A SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCYL1 SEMA4D SH2B3 SH2D1A SH3KBP1 SHANK3 SHH SHQ1 SIX3 SLC11A1 SLC12A1 SLC12A3 SLC18A2 SLC19A3 SLC22A4 SLC25A19 SLC25A20 SLC29A3 SLC31A1 SLC34A2 SLC35C1 SLC39A7 SLC41A1 SLC4A1 SLC52A1 SLC5A1 SLC5A5 SMARCAL1 SMC1A SNORD115-1 SNORD116-1 SNX10 SPI1 SPINK1 SPP1 SPR SPTA1 SPTB SPTBN1 SRP19 SRP54 SRSF2 STAC3 STAG2 STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STIL STIM1 STING1 STK4 STX11 STXBP2 SUCLG1 SYK TBC1D8B TBCK TBK1 TBL1XR1 TBX3 TCF3 TCF4 TCIRG1 TDGF1 TET2 TG TGIF1 TH TICAM1 TLR3 TLR4 TLR7 TMEM165 TNFAIP3 TNFRSF1A TNFSF11 TP53 TPO TRAF3 TRAF3IP2 TRAF6 TRANK1 TRAPPC9 TREX1 TRIM28 TRIP13 TRNT1 TRPC6 TSC1 TSC2 TSHB TSHR TSPOAP1 TSPYL1 UBA1 UBAC2 UBE3A UNC13D UNC93B1 UQCRFS1 UQCRH VANGL2 VPS11 WAS WDR1 WIPF1 WT1 XIAP XPA XPC ZBTB16 ZFHX2 ZFYVE19 ZIC2 ZNF699 ZNFX1 HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY AKT1 BAP1 CLN8 COASY COX10 CP DCC EXOC2 EXOC7 FKRP FTL GFAP GMPPB GSX2 GTPBP3 HEXB JAM2 MED17 MFF MTRFR MYORG NDE1 NF2 PDGFB PIK3C2A PIK3CA POLG POMGNT1 POMK POMT1 POMT2 PTCD3 PTCH1 RANBP2 SCP2 SETD5 SLC2A1 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TREM2 TUBA1A TUBB2B TUBB3 TWNK HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS AAGAB ABCA1 ABCA12 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCD1 ABCD3 ABCG5 ABCG8 ABHD5 ABL1 ACAD9 ACADM ACADS ACADVL ACAT1 ACD ACOX1 ACP5 ACSL5 ACTG2 ACTN4 ACVR1B ACVR2B ACVRL1 ADA ADA2 ADAMTS13 ADAMTS3 ADAMTSL2 ADAR ADK AFF4 AGA AGGF1 AGL AGPAT2 AGR2 AHCY AIRE AKR1D1 AKT1 AKT2 ALAS2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG5 ALG6 ALG8 ALG9 ALMS1 ALPK1 AMACR ANK1 ANKFY1 ANKRD55 ANKS6 ANLN ANTXR1 AP1B1 AP1S1 AP2S1 AP3B1 AP3D1 APC APC2 APOA1 APOB APOC2 APOE APOL1 APPL1 ARG1 ARHGAP24 ARHGAP31 ARHGDIA ARID1A ARID1B ARID2 ARL13B ARL6 ARMC5 ARSA ARSB ARVCF ARX ASAH1 ASL ASS1 ASXL1 ATAD3A ATM ATP11C ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6AP2 ATP6V1B2 ATP7A ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX AUH AXIN1 B2M B3GLCT B4GALT1 B9D1 B9D2 BAAT BACH2 BAP1 BARD1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCHE BCKDHA BCKDHB BCL11A BCL2 BCL6 BCL7B BCR BCS1L BICC1 BLK BLM BLNK BLVRA BMP2 BMP6 BMPER BMPR1A BOLA3 BPGM BRAF BRCA1 BRCA2 BRD4 BRIP1 BSCL2 BTD BTK BTNL2 BUD23 C1QBP C1S C2orf69 C4A C4B CA2 CA5A CALR CARD11 CARS2 CASK CASP10 CASP8 CASR CASZ1 CAV1 CAVIN1 CBL CBS CC2D2A CCBE1 CCDC103 CCDC115 CCDC28B CCDC32 CCDC39 CCDC40 CCDC47 CCDC65 CCND1 CCNO CCR1 CD19 CD247 CD27 CD28 CD2AP CD3D CD3E CD40LG CD55 CD70 CD79A CD79B CD81 CD96 CDAN1 CDC45 CDC73 CDIN1 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEL CENPF CEP120 CEP164 CEP19 CEP290 CEP83 CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP45 CFAP52 CFAP53 CFAP74 CFB CFC1 CFTR CHD7 CHEK2 CHST14 CIDEC CIITA CIROP CISD2 CLCA4 CLCN7 CLCNKB CLDN1 CLEC7A CLIP2 CLPB CNOT1 CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COG8 COL14A1 COL4A3 COMT COQ8B CORIN COX10 COX14 COX15 COX4I2 COX5A CP CPA1 CPLX1 CPOX CPT1A CPT2 CR2 CRB2 CREBBP CSF3R CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNB1 CTNS CTRC CTSA CTSC CTSK CYBA CYBB CYBC1 CYP19A1 CYP27A1 CYP7A1 CYP7B1 DAAM2 DAXX DBT DCDC2 DCLRE1C DCTN4 DDOST DDRGK1 DEF6 DGUOK DHCR24 DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DLL4 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAL1 DNASE1L3 DNASE2 DOCK2 DOCK6 DPAGT1 DPF2 DPM1 DPM2 DRC1 DSE DUOX2 DUOXA2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EARS2 EDNRA EFL1 EIF2AK3 EIF4H ELANE ELN ELP1 EMP2 ENG ENPP1 EOGT EP300 EPB41 EPB42 EPCAM EPOR ERAP1 ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH EWSR1 EXOC2 EXTL3 F10 F5 FADD FAH FAM111A FAM111B FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSA FARSB FAS FASLG FAT4 FBN1 FBP1 FCGR2A FCGR3B FCHO1 FDX2 FECH FERMT3 FGA FGB FGFR2 FGFRL1 FGG FH FKBP6 FLI1 FLNB FLNC FLT1 FMO3 FOCAD FOS FOXF1 FOXJ1 FOXP3 FOXRED1 FTH1 FTL FUCA1 G6PC1 G6PC3 G6PD GAA GABRD GALE GALK1 GALM GALNS GALT GANAB GAPVD1 GAS2L2 GAS8 GATA1 GATA2 GATA6 GBA1 GBE1 GCDH GCGR GCK GCLC GDF1 GDF2 GEMIN4 GFM1 GH1 GIMAP5 GK GLB1 GLIS3 GLRX5 GLUD1 GNA11 GNAS GNB2 GNE GNMT GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GSN GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GUCY2D GUSB GYPC H19 HADH HADHA HADHB HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEPACAM HESX1 HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGA2 HMGCL HMGCS2 HMOX1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPA2B1 HOXD13 HPGD HSD17B10 HSD17B4 HSD3B7 HSPG2 HTRA2 HYDIN HYLS1 HYMAI HYOU1 IARS1 ICOS IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 IGF2R IGHG2 IGHM IGKC IGLL1 IKBKG IKZF1 IKZF3 IL10 IL12A IL12A-AS1 IL12RB1 IL17F IL17RA IL17RC IL18BP IL1RN IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL6ST IL7R INF2 INPP5E INPPL1 INS INSR INTU INVS IQCB1 IRAK4 IRF2BP2 IRF4 IRF5 IRF8 ITCH ITK IYD JAG1 JAK1 JAK2 JAK3 JAM2 JAM3 JMJD1C KATNB1 KCNAB2 KCNH1 KCNJ11 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KDM5C KIAA0753 KIF12 KIF20A KIF23 KIF3B KIT KLF1 KLF11 KLRC4 KMT2B KMT2D KMT2E KPTN KRAS KRIT1 KRT18 KYNU LACC1 LAMA5 LARS1 LAT LBR LCAT LDLR LDLRAP1 LEMD3 LETM1 LHX1 LHX3 LHX4 LIG3 LIG4 LIMK1 LIPA LIPE LMBRD1 LMF1 LMNA LMNB2 LONP1 LPIN2 LPL LRBA LRP5 LRPPRC LRRC56 LRRC8A LSM11 LTBP3 LTBP4 LUZP1 LYRM4 LYST LYZ LZTFL1 LZTR1 MAD2L2 MADD MAFA MAGI2 MAGT1 MAN2B1 MAPK8IP3 MARS1 MC1R MCCC1 MCIDAS MCM10 MCM4 MDM2 MECOM MECP2 MED12 MED25 MEFV MEG3 MEGF8 MEN1 MET METTL27 MFN2 MGMT MICOS13 MICU1 MIF MITF MKKS MKS1 MLH1 MLH3 MLXIPL MMAA MMAB MMACHC MMEL1 MMP21 MMP23B MMUT MNS1 MOGS MPC1 MPI MPIG6B MPL MPV17 MRAS MRE11 MRPL3 MRPL44 MRPS28 MRPS7 MS4A1 MSH2 MSH6 MST1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTRR MTTP MTX2 MUC5B MVK MYBPC3 MYC MYCN MYD88 MYH11 MYL2 MYO1E MYO5B MYORG MYPN MYRF NAA10 NAB2 NADK2 NAE1 NAF1 NAGA NAGLU NAGS NBAS NBEAL2 NBN NCF1 NCF2 NCF4 NCKAP1L NDE1 NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK1 NEK10 NEK8 NELFA NEU1 NEUROD1 NEUROG3 NFKB1 NFKB2 NFKBIA NFS1 NGLY1 NHLRC2 NHP2 NKX2-5 NLRC4 NLRP1 NLRP12 NLRP3 NME5 NME8 NOD2 NODAL NOP10 NOTCH1 NOTCH2 NOTCH3 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NR1H4 NRAS NSD1 NSD2 NSMCE2 NTHL1 NUBPL NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 NUTM1 OAS1 OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORAI1 OSTM1 OTC OTUD5 PALB2 PALLD PARN PARS2 PAX2 PAX4 PAX8 PC PCCA PCCB PCK1 PCK2 PCSK1 PCSK9 PDE11A PDGFB PDGFRA PDGFRB PDGFRL PDPN PDX1 PEPD PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGM1 PHKA2 PHKB PHKG2 PHYH PI4KA PIBF1 PIEZO1 PIGA PIGG PIGL PIGM PIGS PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKD1 PKD1L1 PKD2 PKHD1 PKLR PLAGL1 PLCE1 PLEC PLEKHM1 PLIN1 PMM2 PMS1 PMS2 PNP PNPLA2 PNPLA6 POLD1 POLG POLG2 POLR3A POMC POT1 POU1F1 POU2AF1 POU6F2 PPARG PPOX PPP1R21 PPP2R3C PRDM16 PRF1 PRIM1 PRKAR1A PRKCD PRKCSH PRKCZ PROP1 PRPS1 PRSS1 PRSS2 PRTN3 PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTF1A PTPN11 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTRH2 PUF60 PUS7 PYGL RAB23 RAB27A RABL3 RAC2 RAD50 RAD51 RAD51C RAD51D RAF1 RAG1 RAG2 RARB RASA2 RASGRP1 RBCK1 RBM8A RBPJ RECQL4 REL RELA RELN RERE REST RFC2 RFT1 RFWD3 RFX5 RFX6 RFXANK RFXAP RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF43 RNU4ATAC RNU7-1 RORC RPGR RPGRIP1 RPGRIP1L RPS20 RPSA RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RUNX1 SAA1 SAMD9 SAMD9L SAMHD1 SAR1B SASH3 SBDS SC5D SCAPER SCARB2 SCLT1 SCN4A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL1 SDCCAG8 SDHA SDHB SDHC SDHD SEC23B SEC24C SEC63 SEMA4A SEMA4D SEMA7A SERPINA1 SERPINC1 SERPINE1 SETBP1 SETD2 SF3B1 SFTPA2 SFTPC SGSH SH2B3 SH2D1A SHPK SIK3 SKI SKIC2 SKIC3 SLC10A1 SLC11A1 SLC11A2 SLC12A3 SLC16A1 SLC16A2 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A4 SLC26A4 SLC26A9 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC39A7 SLC39A8 SLC40A1 SLC44A1 SLC4A1 SLC51A SLC51B SLC5A5 SLC6A14 SLC7A7 SLC9A3 SLCO1B1 SLCO1B3 SLCO2A1 SLX4 SMAD2 SMAD4 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMPD1 SNX10 SNX14 SOCS1 SON SOS1 SOS2 SOX10 SOX11 SOX4 SP110 SPAG1 SPEF2 SPEN SPI1 SPIB SPINK1 SPOP SPRED2 SPRTN SPTA1 SPTB SPTBN1 SRP54 SRSF2 STAT1 STAT3 STAT4 STAT6 STEAP3 STIM1 STK11 STK36 STN1 STOX1 STRA6 STUB1 STX11 STX1A STXBP2 SUCLG1 SUMF1 SUPT16H SURF1 SYK TALDO1 TARS2 TBC1D8B TBL2 TBX1 TBX19 TBXAS1 TCF3 TCF4 TCIRG1 TCN2 TCTN1 TCTN2 TCTN3 TELO2 TERC TERF2IP TERT TET2 TF TFAM TFE3 TFR2 TG TGFB1 TGFBR2 THPO TIMMDC1 TINF2 TJP2 TKFC TKT TLR4 TLR8 TMEM107 TMEM126B TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMEM94 TMPRSS6 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TNFSF15 TNNI3 TNNT2 TNPO3 TOGARAM1 TOM1 TP53 TPI1 TPO TPP2 TRAC TRAF3IP1 TRAF3IP2 TRAPPC11 TREX1 TRHR TRIM28 TRIM32 TRIM37 TRIP13 TRMT5 TRMU TRNT1 TRPC6 TRPV6 TSC1 TSC2 TSFM TSHB TSHR TTC12 TTC21B TTC26 TTC7A TTC8 TUFM TULP3 TWIST1 TWNK TXNDC15 TYMP TYMS UBAC2 UBE2T UBE4B UBR1 UCP2 UFD1 UGT1A1 UMPS UNC13D UNC45A UQCRB UQCRFS1 UQCRH UROD UROS USB1 USP18 USP53 USP9X VCP VHL VIPAS39 VPS11 VPS13A VPS33A VPS33B VPS37D VPS45 VPS4A VPS50 WDPCP WDR1 WDR19 WDR35 WFS1 WNT3 WNT7B WRAP53 WT1 XIAP XK XPNPEP3 XPR1 XRCC2 XRCC4 XYLT1 YARS1 YARS2 YME1L1 YY1 ZAP70 ZEB2 ZFTA ZFYVE19 ZIC3 ZMYND10 ZNF699 ZNFX1 ZPR1 HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL AARS1 ABCC8 ABCC9 ABCD4 ACTA2 ACTG2 ADAMTS2 ADAMTSL2 ADNP AEBP1 AGA AGPAT2 ALDH18A1 ALG9 ALKBH8 AMER1 AMH AMHR2 ANTXR1 AP1S2 APC APC2 AR ARID1A ARID1B ARPC4 ARSB ARVCF ARX ATAD1 ATP1A2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATRX AUTS2 B3GAT3 B3GLCT BAZ1B BCL11B BCL7B BCOR BCR BGN BHLHA9 BMP1 BMPER BRAF BRAT1 BRCA1 BRCA2 BRF1 BRIP1 BSCL2 BUB1 BUD23 C1R C1S CAMSAP1 CANT1 CARS1 CASK CAVIN1 CBL CBS CC2D2A CCBE1 CCDC22 CD96 CDC42 CDCA7 CDH11 CDKL5 CDKN1C CEP120 CHAMP1 CHD3 CHD7 CHRM3 CHRNG CHST14 CHST3 CHUK CLCN4 CLDN19 CLIP2 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT COX11 CREBBP CRKL CSGALNACT1 CSNK2A1 CTCF CTNNB1 CTNND2 CUL4B CWC27 DACT1 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DICER1 DIS3L2 DLK1 DLL3 DMXL2 DNAJB4 DNAJC30 DNMT3A DNMT3B DPH1 DPH2 DPP9 DPYSL5 DSE DUOX2 DUOXA2 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EED EFEMP2 EFNB1 EHMT1 EIF4H ELMO2 ELN ELOVL4 EN1 EOGT ERCC2 ERCC3 ERCC4 ESS2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBLN5 FBN1 FBXW11 FGD1 FGFR1 FGFR2 FIBP FKBP14 FKBP6 FLI1 FLNA FLNB FOCAD FOXE3 FOXF1 FRAS1 FREM1 FREM2 FTO FZD2 G6PC3 GAD1 GALNS GATA4 GATA6 GDF1 GDF11 GJA1 GLB1 GLI3 GLIS3 GLRA1 GLRB GMNN GNAO1 GNB2 GNE GNPAT GNPTAB GNS GP1BB GPC3 GPC4 GPC6 GPHN GRIN1 GRIN2B GRIP1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB GZF1 H19 H4C3 HDAC4 HELLS HES7 HESX1 HEY2 HIC1 HIRA HIVEP2 HLA-DQA1 HLA-DQB1 HMGA2 HOXD13 HSPG2 HYLS1 HYMAI IDS IDUA IFT122 IFT140 IFT80 IFT81 IGF2 IKBKG INPP5E INSR IPO8 IRF6 IRX5 ISL1 IYD JMJD1C KAT6A KCNA1 KCNH1 KCNJ11 KCNJ8 KCNQ1 KCNQ1OT1 KDM3B KDM5B KIF7 KMT2C KNSTRN KRAS KRT1 LBR LDHD LFNG LHX3 LHX4 LIMK1 LMNA LMOD1 LONP1 LOX LRP2 LRPPRC LTBP1 LTBP4 LZTR1 MAD2L2 MAF MAMLD1 MAN2B1 MANBA MAPK1 MAPRE2 MASP1 MAT2A MBTPS1 MBTPS2 MCOLN1 MDFIC MECP2 MED12 MED13L MED25 MEG3 MEGF8 MEIS2 MESP2 METTL27 MFAP5 MID1 MKS1 MLXIPL MMP14 MMP2 MPLKIP MRAS MSX1 MTFMT MTHFR MTOR MYH11 MYH3 MYLK NAA10 NALCN NAT8L NCF1 NDUFA8 NECTIN1 NEK9 NEU1 NEUROD2 NFIA NFIX NIPBL NKX2-5 NLRP3 NOTCH1 NOTCH2 NOTCH3 NPHP3 NRAS NSD1 NSDHL NUAK2 NXN OCLN OCRL ODC1 OFD1 P3H1 PACS1 PAFAH1B1 PAH PALB2 PAX8 PHGDH PI4KA PIEZO1 PIEZO2 PIGL PIGN PIGP PIGQ PIGS PIGW PIGY PIK3CD PIK3R1 PLAG1 PLAGL1 PLD1 PLOD1 PLOD2 PNKP POGZ POLR2A POLR3GL PORCN POU1F1 PPP1R12A PPP2CA PPP2R1A PPP2R3C PRDM5 PRKG1 PRKG2 PROP1 PRR12 PTCH1 PTDSS1 PTPN11 PUF60 PYCR1 RAB23 RAB3GAP2 RAC1 RAD51 RAD51C RAF1 RASA2 RFC2 RFWD3 RFX7 RIC1 RIN2 RIPK4 RIPPLY2 RIT1 RMRP RNF113A RNF13 RNF2 ROR2 RPGRIP1L RPL10 RPS6KA3 RRAS RRAS2 RREB1 RTL1 SALL1 SATB2 SCN1B SCN2A SEC24C SEC31A SEMA5A SERPINH1 SET SETBP1 SETD2 SF3B4 SGSH SH3PXD2B SHANK3 SHOC2 SHPK SIK1 SIN3A SKI SKIC2 SKIC3 SLC10A7 SLC25A22 SLC25A24 SLC26A2 SLC2A10 SLC32A1 SLC35C1 SLC35D1 SLC37A4 SLC5A5 SLC5A6 SLC6A5 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMARCC2 SMCHD1 SNIP1 SOS1 SOS2 SOX6 SPECC1L SPRED2 SRCAP STRA6 STS STX1A SUZ12 TARS1 TASP1 TBCK TBL2 TBX1 TBX3 TBXT TENT5A TFE3 TG TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THRA THSD4 TMCO1 TMEM107 TMEM216 TMEM270 TMEM67 TMEM70 TMEM94 TNRC6B TOR1A TP63 TPO TRAF7 TRIM8 TRIP11 TRPV6 TRRAP TSHB TSHR TTC26 TTC7A TUBB TWIST2 TXNL4A UBA1 UBE2T UFD1 UPB1 USP9X VANGL2 VPS35L VPS37D WASHC5 WDR19 WDR35 WNT3 WNT5A XRCC2 XRCC4 XYLT1 YWHAE ZBTB24 ZBTB7A ZEB1 ZFP57 ZIC3 ZMPSTE24 HP_ABNORMALITY_OF_THE_ACHILLES_TENDON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON ABCC9 ABHD12 ACTA1 ADAT3 ALS2 ARL6IP1 BICD2 COL12A1 COL6A1 COL6A2 COL6A3 CRPPA CYP27A1 DMD EMD FHL1 FKRP FKTN GAN GJB1 GNS HGD HINT1 HRAS JAG2 KL KRT1 KY LARGE1 LMNA LMX1B MARS1 MEGF10 MT-TE MYOT NGLY1 NSUN2 OPA1 PLEC POMT1 POU3F4 PRKCG PTRH2 PYROXD1 SCN4A SGCA SGCG SLC12A6 SLC25A4 SLC39A14 SYNE1 SYNE2 TFG TMEM43 TNNT1 TTN UFC1 ZC4H2 HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS AAAS ABCC6 ABCD1 ADA ADH5 AIP AIRE AKT1 ANTXR2 APC ARMC5 ATP6V1B2 ATRX BAP1 BCAP31 BCOR BMP4 BRAF BSND BTNL2 CACNA1D CACNA1H CACNA1S CBX2 CCDC22 CCND1 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CHD7 CHEK2 CILK1 CLCN2 CLCNKA CLCNKB CTNNB1 CUL3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 DHX37 DLST DMRT3 DNMT3A DPYSL5 ENPP1 EPAS1 ESR1 FH GATA4 GATB GATC GK GLI3 GMPPA GNAS GPR161 HBB HERC2 HESX1 HLA-DRB1 HSD11B2 HSD17B4 HSD3B2 HTR1A HYLS1 IARS2 IDH1 IDH2 IGF2 INSR KANSL1 KCNE3 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ2 KCNJ5 KCNQ1 KCNQ1OT1 KIF1B KLHL3 LHX4 LIPA LMNA LTBP4 MAGEL2 MAP3K1 MAX MC2R MCM4 MDH2 MDM2 MEN1 MKRN3 MKS1 MRAP MRPS25 MRPS7 MTHFR NDN NDUFAF5 NF1 NF2 NFKB2 NFS1 NKX2-6 NNT NPAP1 NR0B1 NR3C1 NR3C2 NR5A1 NSDHL NUAK2 OCA2 OCRL PCSK1 PDE11A PDE8B PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA PLXND1 POLE POLR1B POLR1C POLR1D POMC POR PRKACA PRKAR1A PROKR2 PROP1 PTEN PWAR1 PWRN1 QRSL1 RBM28 RET ROBO1 SAA1 SAMD9 SCN4A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SEMA3E SERPINA6 SGPL1 SIX3 SLC12A1 SLC12A3 SLC25A11 SLC26A3 SMARCB1 SMARCE1 SMO SNORD115-1 SNORD116-1 SNRPN SOX9 SRY STAR STEAP3 SUFU TBC1D24 TBC1D7 TBCK TBX19 TCOF1 TCTN3 TERT TMEM127 TNXB TP53 TRAF7 TRAPPC11 TXNRD2 USP48 USP8 VAMP7 VANGL2 VHL VPS35L WASHC5 WDR11 WNK1 WNK4 WNT3 WNT4 WT1 WWOX YY1 ZFPM2 ZMPSTE24 ZNRF3 HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES ARX ASXL1 ATP6V1B2 BRF1 C1R C1S CD96 CPLANE1 CTSC DHCR24 DHCR7 DIS3L2 DPH5 ELANE EVC EVC2 FAM149B1 FIG4 FTO GJA1 GNPTAB GNS IRF6 KIAA0753 KIF7 LYST NTRK1 OFD1 PDE6D PIGA RBM10 RERE SETBP1 SH3BP2 SH3PXD2B SNRPN TBC1D24 TBX15 TCTN3 TMEM216 TOPORS VAC14 WDR4 ZC4H2 HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID ABCB11 ABCB4 ABCC6 ACE ACTA1 ACTG2 ADAMTS3 ADARB1 ADAT3 ADCY6 ADGRG6 ADNP AGRN AGT AGTR1 AKT2 ALB ALDH1A2 ALDH7A1 ALG1 ALG12 ALG14 ALG8 ALG9 ALPL ALX4 AMER1 AMMECR1 ANO1 AQP2 ARVCF ASCC1 ASCL1 ASXL1 ASXL3 ATAD3A ATN1 ATP1A2 ATP6V0A1 ATP6V1B2 ATP6V1E1 ATP8B1 AVPR2 B3GALT6 B3GLCT B9D1 B9D2 BICD2 BIN1 BMPER BNC2 BRAF BRCA1 BRCA2 BRIP1 BSND BUB1 BUB1B BUB3 C1QBP CA2 CALCRL CBL CC2D2A CCDC47 CD96 CDC42BPB CDK13 CDKN1C CEP290 CEP55 CEP57 CERT1 CFL2 CHAT CHD7 CHRM3 CHRNA1 CHRND CHRNG CILK1 CLCN7 CLCNKA CLCNKB CLPB CLTCL1 CNTN1 CNTNAP1 COASY COG5 COL11A2 COL13A1 COL25A1 COL2A1 COMT COQ7 COX14 CPT2 CRB2 CREBBP CSNK2A1 CSPP1 DALRD3 DDX6 DEF6 DHCR7 DHPS DIS3L2 DLK1 DMPK DNM2 DOCK6 DOK7 DONSON DPF2 DPH5 DPM2 DSP DTYMK DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP EFEMP2 EGFR ENPP1 EP300 ERBB3 ERCC4 ERF ERGIC1 ESCO2 EXOSC9 EXT2 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FARSB FBLN5 FBN1 FGF20 FGFR3 FH FIG4 FKBP14 FLNB FLVCR2 FOXE1 FOXF1 FRA10AC1 FREM2 FUT8 FXR1 GATA1 GATA6 GBA1 GBE1 GFRA1 GLDN GLE1 GLI3 GMPPB GNB2 GNPTAB GP1BB GPC3 GPC4 GREB1L GRIP1 GRM7 H19 HACD1 HADHA HBA1 HBA2 HERC2 HIC1 HIRA HMGA2 HNF1B HOXD13 HRAS HS2ST1 HSD17B4 HSPA9 HSPG2 HYLS1 HYMAI IARS1 IBA57 IFIH1 IGF2 IKZF1 IL6ST INPPL1 INVS IPO8 IRF6 ITGA6 ITGA7 ITGA8 ITGB4 JMJD1C JUP KAT6B KBTBD13 KCNJ1 KCNJ6 KDM3B KIAA0586 KIDINS220 KIF14 KIF21A KIF7 KLHL40 KLHL41 KMT2D KRAS LAMB2 LARS2 LBR LHX1 LIFR LMNA LMOD1 LMOD3 LONP1 LTBP3 LZTR1 MAD2L2 MADD MAFB MAGED2 MAGEL2 MAMLD1 MAP2K2 MAP3K20 MBTPS2 MDFIC MEG3 MKRN3 MKS1 MOGS MSX1 MTHFR MTM1 MTMR14 MTO1 MUSK MYCN MYF6 MYH11 MYH3 MYL1 MYL2 MYL9 MYLK MYO9A MYOD1 MYPN NAA10 NALCN NDUFA6 NDUFB7 NEB NECTIN1 NEK8 NEK9 NPAP1 NPC2 NPHP3 NR1H4 NRAS NRCAM NUP88 ODC1 OSGEP OTUD5 OTX2 PAFAH1B1 PAICS PALB2 PAX2 PBX1 PCGF2 PDX1 PGAP2 PGAP3 PHACTR1 PHGDH PHIP PHOX2B PI4KA PIEZO1 PIGA PIGL PIGN PIGO PIGQ PIGV PIGW PIGY PKHD1 PLAG1 PLAGL1 PLEC PLPBP PLVAP PMM2 PNPO POR PPP1CB PRDM13 PRMT7 PRRX1 PSAT1 PTH1R PUF60 PWAR1 PWRN1 RAD51 RAD51C RAF1 RAPSN RBM10 REN RET RFWD3 RHAG RHCE RHD RIT1 RMND1 RNF2 RNU4ATAC ROBO1 RPGRIP1 RPGRIP1L RPL10 RPL11 RRAS2 RREB1 RSPO2 RTL1 RYR1 SATB1 SCN4A SCN8A SCYL2 SEC24C SEC24D SELENON SEMA3E SETD1A SFXN4 SHOC2 SIN3A SKIC3 SLC12A1 SLC16A2 SLC18A3 SLC25A1 SLC25A12 SLC25A24 SLC25A26 SLC25A46 SLC26A2 SLC26A3 SLC27A4 SLC2A1 SLC35A2 SLC35D1 SLC5A7 SLC6A5 SLC9A3 SLX4 SMG9 SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SOD1 SOS1 SOX17 SOX9 SPINT2 SPOP SPRED2 STRADA SYNE1 SYT2 SZT2 TALDO1 TAPT1 TBC1D24 TBCD TBCK TBX1 TCTN1 TCTN2 TCTN3 TFAM TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TNNC2 TOR1A TP63 TPI1 TPM2 TPM3 TRAIP TRAPPC12 TRIP11 TRIP13 TRIP4 TRPV6 TSEN2 TSEN54 TTC26 TTC7A TUBA1A TWIST1 TXNDC15 UBE2A UBE2T UFD1 UQCC2 UROD UROS VAC14 VAMP1 VANGL2 VPS33B WDR35 WDR73 WDR81 WNT3 WNT4 WNT9B XRCC2 YWHAE ZBTB42 ZC4H2 ZIC3 ZMPSTE24 ZNF699 HP_ABNORMALITY_OF_THE_ANKLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANKLE AARS1 ABCD1 ACTA1 ADGRG1 ADGRV1 ALAD ANGPT2 ANKRD55 ANO10 ANO5 APC2 ATL1 ATP5F1D ATP6AP2 BAZ1B BCL7B BPTF BUD23 C18orf32 C19orf12 CAPN1 CAPN3 CARS1 CCDC88C CD247 CD40LG CHMP1A CLCN5 CLIP2 COL10A1 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COMP CYP27A1 CYP27B1 CYP2R1 CYP7B1 DAG1 DDR2 DNAJC30 DNMT3A DPM1 DYM DYRK1A EIF4H ELN ERGIC1 ERLIN2 ESCO2 EXT1 EXT2 FA2H FGF13 FIG4 FKBP10 FKBP6 FLNA FLT4 GABRD GABRG2 GALC GBA2 GDF5 GFM2 GJC2 GLI3 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HCN1 HNRNPH1 HTT IDH1 IL2RA IL2RB ITGA7 KIF1A KIF1C KIF5A KLC2 KLHL9 KPNA3 LGI4 LIFR LIMK1 LMNA MAFB MAN2B1 MAP3K20 MAP3K7 MARS1 METTL27 MFN2 MLXIPL MMP2 MYL2 NCF1 NDUFS8 NEB NFATC2 NIPA1 NOG NONO NSD1 NT5C2 NTRK1 OCA2 ORAI1 PEX16 PI4KA PIEZO1 PIGT PLA2G6 PNPT1 POU3F4 PSAP PSAT1 PSMD12 PTPN2 PTPN22 PYCR2 RAB18 RAB3GAP2 REEP1 RETREG1 RFC2 RPL10 RTN2 RTTN RYR1 SAMD9L SCN1A SCN1B SCN2A SCN9A SCYL2 SELENOI SELENON SETD2 SGCA SLC16A2 SLC1A4 SLC34A3 SLC39A14 SLC52A3 SMG9 SOD1 SPART SPAST SPG11 SPTBN2 SPTBN4 STAT4 STUB1 STX1A STX1B SVIL SYNE1 SYT2 TBL2 TCEAL1 TIMM8A TMEM270 TNNT1 TOR1AIP1 TPM2 TPM3 UBA1 UBE3A UCHL1 VAC14 VARS1 VCP VDR VPS37D WNK1 ZFYVE27 ZMPSTE24 HP_ABNORMALITY_OF_THE_ANTERIOR_COMMISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_COMMISSURE CEP85L DCC MACF1 RERE TUBB3 ZEB2 HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE ADAMTS2 ALG9 AMER1 ANKRD11 ANTXR1 ARX ASPA ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GLCT BANF1 CBFB CCDC22 CDC45 CDH11 CHUK COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP CTSK DCHS1 DDR2 DDX3X DICER1 DLK1 DPYSL5 DSE DVL1 EBP EFEMP2 EP300 ETFA ETFB ETFDH FAM111A FAT4 FBLN5 FGFR2 FGFR3 FLNA GH1 GLI3 GLIS3 GNPTAB GRB10 H19 HDAC4 HRAS HYMAI IFT140 IGF2 INTU KIF7 KLF1 LIG4 LRP2 LTBP1 MASP1 MED12 MEG3 MID1 MMP2 MPDU1 MTOR MYCN NAA10 NCAPG2 NDUFAF3 NEPRO NFASC NLRP3 NSMCE3 NSUN2 ORC1 P3H1 PCGF2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGQ PLAGL1 POLR3A POR PPP2R5D RECQL4 RNU12 RNU4ATAC ROR2 RPS6KA3 RTL1 RUNX2 SEC23A SETBP1 SH3PXD2B SIX2 SKI SLC25A19 SLC25A24 SMC3 SMG9 SOX9 TALDO1 TBCE TSHB TWIST1 UBR1 VARS1 VPS35L WNT5A WT1 ZIC1 ZMPSTE24 HP_ABNORMALITY_OF_THE_ANUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANUS ABL1 ACADVL ADAM17 AMER1 AR ARVCF ATN1 ATP2A2 B3GLCT BCOR BRCA1 BRCA2 BRIP1 C2CD3 CACNA1C CAPN15 CASZ1 CCDC22 CCNQ CD19 CD3G CD81 CD96 CDC45 CDH1 CDH11 CDK8 CDON CEP120 CHD4 CHD7 CHRM3 COL7A1 COMT COX7B CR2 CTNND1 CYBC1 DACT1 DCHS1 DDB1 DDX3X DDX6 DEF6 DISP1 DKC1 DLL1 DOCK8 DPYS DPYSL5 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EGFR EHMT1 ELANE ELF4 EMC1 EPCAM ERCC4 ESCO2 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FERMT1 FGF8 FGFR2 FKRP FKTN FLI1 FOXC1 FOXF1 FOXH1 FRAS1 FREM1 FREM2 FUZ G6PC3 GABRD GAS1 GATA1 GDF3 GDF6 GLI2 GLI3 GP1BB GPC3 GPC4 GRIP1 HCCS HES7 HIRA HOXD13 HSPA9 HSPG2 ICOS IFT80 IKZF3 IL10RA IL10RB INTU IRF2BP2 ISL1 JMJD1C KAT6B KCNAB2 KDM6A KIF7 KMT2C KMT2D KYNU LARGE1 LIG4 LONP1 LRPPRC LUZP1 MAD2L2 MAMLD1 MED12 MEOX1 MID1 MKKS MKS1 MMP1 MMP23B MNX1 MS4A1 MYCN NAA10 NBN NCF4 NDUFB11 NFIX NFKB1 NFKB2 NODAL NSUN2 NXN PALB2 PDPN PERCC1 PGAP2 PGAP3 PIGL PIGN PIGO PIGV PIGW PIGY PITX2 PKP1 POMT1 POMT2 POR PORCN PPP2R3C PQBP1 PRDM16 PRKCD PRKCZ PTCH1 PTDSS1 RAD51 RAD51C RECQL4 RERE RFWD3 RFX6 RIPK1 RIPK4 RMRP RNU12 ROBO1 ROR2 RRAS2 RREB1 RSPO2 SALL1 SALL4 SEC24C SETBP1 SHH SIN3A SIX3 SKI SLC25A24 SLX4 SMO SNRPB SPEN SPINT2 STIL SUZ12 SYK TBC1D23 TBX1 TBX3 TBXT TCTN3 TDGF1 TGFB1 TGIF1 THOC6 TNFRSF13B TNFRSF13C TNFSF12 TNRC6B TP63 TWIST1 TWIST2 UBE2T UBE4B UBR1 UFD1 UPB1 USP9X VANGL1 VPS35L WASHC5 WDR35 WNT3 WNT7A XRCC2 ZIC2 ZIC3 HP_ABNORMALITY_OF_THE_AUDITORY_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL ADAM17 ANAPC7 ATP6V1B2 B3GLCT BRD4 CDC45 CDC6 CDT1 CHN1 CHRNG COG1 COL2A1 COL7A1 CPLX1 CTBP1 DCHS1 DDR2 EDN1 EDNRA EFTUD2 EGFR ERBB3 EYA1 FAT4 FGFR2 FGFRL1 FKRP FKTN FRAS1 FREM2 GLI3 GMNN GNAI3 GPRASP2 GRIP1 GSC HDAC8 HMX1 HOXA2 IPO8 KIF15 KMT2D LARGE1 LETM1 MAF MAFB MED12 MRTFA NIPBL NOTCH3 NSD2 ORC1 ORC4 ORC6 PAX1 PLCB4 POMT1 POMT2 POR PORCN RAD21 RPL11 RPL26 RPS26 RPS28 SALL4 SF3B2 SF3B4 SIX1 SIX5 SLC12A2 SMC1A SMC3 SMCHD1 SNRPB SOST SP7 STAG2 TBC1D24 TBX15 TCOF1 TP63 TSHZ1 TSR2 TWIST2 VPS37A HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM AAAS ABCD1 ACOX1 ACTG2 ADH1C AHI1 AKAP9 ANK2 APC2 ARL13B ARL3 ARL6 ARMC9 ARSA ARVCF ARX ASCL1 ATL1 ATL3 ATP1A2 ATP1A3 ATP7A ATRX ATXN2 ATXN3 ATXN8OS B2M B9D1 B9D2 BBS1 BCOR BDNF BRAT1 BRCA1 BRCA2 BRIP1 CACNA1A CACNA1C CALM1 CALM2 CALM3 CAV1 CAV3 CBY1 CC2D2A CCDC28B CCT5 CDON CEP104 CEP120 CEP290 CEP41 CHCHD2 CHRNA3 CISD2 COL1A1 COL25A1 COL5A1 COL5A2 COMT COQ2 CPLANE1 CSPP1 CYB561 CYP11B2 DBH DDX3X DDX59 DEPDC5 DHCR7 DISP1 DLL1 DNAJC13 DNAJC6 ECE1 EDN3 EDNRB EIF4G1 ELP1 ERBB2 ERBB3 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO7 FGF8 FGFR1 FMR1 FOXF1 FOXH1 GABBR2 GAS1 GATA1 GBA1 GBE1 GCK GDNF GFAP GIGYF2 GLA GLI2 GLUD2 GMPPA GNB2 GP1BB GSN HEXB HIRA HTRA2 HYLS1 IFT74 IL12A IL12RB1 IL6ST INPP5E IRF5 JMJD1C KATNIP KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 KIAA0586 KIAA0753 KIF1B KIFBP KIT KITLG KRAS L1CAM LBX1 LEP LEPR LGI1 LIFR LMNB1 LRRK2 MAD2L2 MAPT MBTPS2 MECP2 MITF MKKS MKS1 MMEL1 MT-TT MYO1H NAA10 NODAL NOS1AP NPHP1 NR4A2 NRTN NSD1 NTRK1 OFD1 PALB2 PARK7 PAX3 PDE6D PGAP2 PGAP3 PHOX2B PIBF1 PIGL PIGN PIGO PIGV PIGW PIGY PINK1 PLA2G6 PLCH1 PODXL POLR3A POU2AF1 PPOX PRKN PRNP PSAP PTCH1 RAD21 RAD51 RAD51C RELN RET RFC1 RFWD3 RMRP RPGRIP1L RREB1 SALL4 SCN10A SCN11A SCN3A SCN4B SCN5A SCN9A SEC24C SEMA3C SEMA3D SETBP1 SETD2 SF3B4 SH2B1 SHH SIM1 SIX3 SLC18A2 SLC1A3 SLC6A2 SLC6A8 SLX4 SMC1A SMO SNAI2 SNCA SNCAIP SNTA1 SOX10 SPG11 SPIB SPTLC1 SPTLC2 SREBF1 STAG2 STIL SUFU SYNE1 SYNJ1 TBP TBX1 TBX5 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNFSF15 TNPO3 TOGARAM1 TRDN TSPYL1 TTR TUBA1A TUBB3 TWNK TXN2 TYR UBE2T UCHL1 UFD1 VPS11 VPS13A VPS13C VPS35 WDR45 WFS1 XRCC2 ZEB2 ZFHX4 ZIC2 ZNF423 HP_ABNORMALITY_OF_THE_AXILLARY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR ADAMTS3 APCDD1 APOE AR AXIN2 AXL CCBE1 CCDC141 CDSN COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DSC3 DUSP6 EPS8L3 FAT4 FEZF1 FGF17 FSHB GATA4 GJB2 GJB6 GNRH1 GNRHR HLA-DRA HR ITGB4 KCTD1 KRT74 LHB LIPH LPAR6 LSS MAP3K1 NR0B1 NR5A1 ORC6 PPP2R3C PSMB8 RPL21 SEMA3E SNRPE SOX9 SPRY4 SRA1 SRY TBX3 TP63 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2 HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM ABCB11 ABCB4 ABCC2 ABCD1 ABCD3 ABCG8 ACADVL ACVRL1 ADAMTS13 ADAR ADK AGR2 AIRE AKR1D1 ALAS2 ALDOA ALDOB ALG6 ALG8 AMACR ANK1 ANKS6 AP1B1 AP1S1 APC2 APOA1 ARG1 ARL13B ARL6 ARSA ARVCF ASAH1 ASXL1 ATP11C ATP6AP1 ATP6AP2 ATP7A ATP7B ATP8B1 B2M B3GLCT B9D2 BAAT BAZ1B BBS1 BCAP31 BCL7B BCS1L BLVRA BMP6 BRCA1 BRCA2 BUD23 CA5A CALR CASK CASR CC2D2A CCDC115 CCDC28B CCDC47 CD40LG CDAN1 CDIN1 CDKN1B CDKN2A CEP290 CEP83 CFTR CIITA CLDN1 CLIP2 CNOT1 COG6 COG7 COMT COX4I2 CPA1 CPLX1 CPOX CTBP1 CTCF CTRC CYP27A1 CYP7A1 CYP7B1 DCDC2 DEF6 DGUOK DHCR7 DHFR DMPK DNAJC30 DNASE2 DPAGT1 DUOX2 DUOXA2 DZIP1L EARS2 EIF2AK3 EIF4H ELN ENG EPB41 EPB42 EPCAM ERCC4 ESCO2 ETFA ETFB ETFDH F5 FADD FARSB FCGR2A FCGR3B FECH FGA FGFRL1 FH FKBP6 FLI1 FOCAD FOXF1 FUCA1 G6PD GALE GALK1 GALM GALT GATA6 GBA1 GCGR GCLC GDF2 GFM1 GH1 GLIS3 GLRX5 GNAS GNB2 GNE GP1BB GPI GPR35 GTF2I GTF2IRD1 GTF2IRD2 GYPC HADHA HADHB HBB HBG2 HESX1 HFE HIRA HK1 HMGCL HNF1B HOXD13 HSD17B4 HSD3B7 HTRA2 HYOU1 IARS1 IER3IP1 IFIH1 IFT122 IFT140 IFT172 IGHG2 IGKC IL12A IL12RB1 IL18BP IL21R IL2RG IL36RN INPP5E INSR INTU IRF5 ITCH IYD JAG1 JAK2 JMJD1C KCNN4 KDM5C KIF12 KIF23 KIF3B KMT2D KMT2E KRAS KRT18 KYNU LBR LETM1 LHX3 LHX4 LIMK1 LIPA LMBRD1 LMNA LONP1 LPL LSM11 LYST LYZ MARS1 MECP2 MED12 MED25 METTL27 MICOS13 MKS1 MLXIPL MMACHC MMEL1 MPV17 MST1 MYO5B NAA10 NBAS NCF1 NEK8 NELFA NEUROG3 NKX2-5 NOTCH2 NPC1 NPC2 NPHP3 NR1H4 NSD1 NSD2 OCLN PALB2 PALLD PARS2 PAX8 PCSK1 PEPD PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGM1 PHKA2 PHKG2 PI4KA PIEZO1 PIGA PIGG PKD2 PKHD1 PKLR PNPLA2 POLG POLG2 POMC POU1F1 POU2AF1 PRF1 PRKAR1A PROP1 PRPS1 PRSS1 PRSS2 PSAP PTPN3 PYGL RAB27A RABL3 RBCK1 REL RFC2 RFX5 RFX6 RFXANK RFXAP RHAG RHCE RHD RINT1 RNASEH2A RNASEH2B RNASEH2C RNF43 RNU4ATAC RNU7-1 RPGRIP1L RREB1 SAA1 SAMHD1 SC5D SCARB2 SCNN1A SCNN1B SCNN1G SEC23B SEC24C SEMA4D SERPINA1 SETD2 SHPK SKIC3 SLC10A1 SLC16A2 SLC25A13 SLC26A4 SLC2A1 SLC2A2 SLC30A10 SLC37A4 SLC44A1 SLC4A1 SLC51A SLC51B SLC5A5 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SON SP110 SPIB SPINK1 SPOP SPTA1 SPTB SPTBN1 STK11 STX11 STX1A STXBP2 SUPT16H TBL2 TBX1 TBX19 TCF4 TCTN3 TFAM TFE3 TG TGFB1 TJP2 TMEM216 TMEM270 TMEM67 TMPRSS6 TNFSF15 TNPO3 TP53 TPI1 TPO TRAF3IP1 TREX1 TRHR TRMU TSHB TSHR TTC26 TTC7A TULP3 UBR1 UFD1 UGT1A1 UNC13D UNC45A UQCRFS1 UROS USP53 USP9X VIPAS39 VPS33B VPS37D VPS4A VPS50 WDR19 WDR35 YARS1 ZFYVE19 ZIC3 ZNF699 HP_ABNORMALITY_OF_THE_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BLADDER ABCD1 ACER3 ACTG2 ADH1C ADNP AFF4 AGXT AIP AKT1 ALDH18A1 ALG9 ALMS1 ALS2 AMFR ANKLE2 AP5Z1 APC2 APRT AQP2 ARNT2 ARSA ARVCF ARX ASPM ASXL1 ATL1 ATP13A2 ATP1A3 ATP7A ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS AUH AVPR2 B4GALNT1 BAP1 BAZ1B BCL7B BICC1 BIN1 BMP1 BNC2 BPTF BRD4 BUD23 CABP4 CACNA1G CACNA1H CACNA1S CAMK2B CAPN1 CARMIL2 CC2D2A CCBE1 CCL2 CCND1 CCNQ CDC45 CDH11 CDK5RAP2 CDK6 CDKN1C CENPE CENPJ CEP135 CEP152 CEP63 CEP85L CFAP43 CHCHD10 CHD4 CHD7 CHMP2B CHRM3 CHRNA2 CHRNA3 CHRNA4 CHRNB2 CHST14 CISD2 CIT CLCN6 CLCNKB CLIP2 CLN3 COG5 COG7 COL18A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL7A1 COMT COPB1 COPB2 COQ2 CPT1C CREBBP CRH CYP7B1 DACT1 DARS2 DBH DCDC2 DDHD2 DDX6 DEPDC5 DKK1 DLG3 DMPK DNAJC13 DNAJC30 DNM2 DNMT1 DNMT3A DPH1 DPH2 DPH5 DSE DSTYK DVL3 DYSF EBF3 EFEMP2 EHMT1 EIF2AK1 EIF2AK2 EIF4G1 EIF4H ELN ELOVL1 EN1 EP300 EPHB4 ERCC6 ERCC8 ERLIN2 EXT1 EXT2 EYA1 FA2H FAM20A FANCF FANCI FAR1 FARS2 FBLN5 FBXO7 FGF10 FGFR2 FGFR3 FITM2 FKBP14 FKBP6 FLNA FLVCR1 FMR1 FOXF1 FOXP1 FOXP2 FREM2 FRMD5 FUS FUZ FXN G6PC3 GAA GABRA1 GABRA3 GABRB3 GABRG2 GALC GALNT2 GATA3 GBA1 GBA2 GBE1 GFAP GGT1 GIGYF2 GJA1 GJC2 GLUD2 GNB1 GNB2 GP1BB GPR101 GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C9 HAAO HACE1 HDAC8 HES7 HEXB HIRA HLA-B HLA-DQB1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HNRNPK HNRNPU HOGA1 HOXA13 HPDL HPRT1 HPSE2 HS6ST2 HSPA9 HSPD1 HTRA1 IFT57 IGF2 IGHMBP2 IKZF1 ISL1 ITGA6 ITGB4 JAG1 JMJD1C JRK KANSL1 KAT5 KCNC3 KCND3 KCNJ10 KCNJ18 KCNQ1 KCNQ1OT1 KCNT1 KIF14 KIF1A KIF5A KIFBP KMT2B KMT2C KNL1 KPNA3 KRAS KY LAMA3 LAMB3 LAMC2 LIG3 LIMK1 LMNB1 LMOD1 LRIG2 LRRK2 LTBP1 LTBP4 MACF1 MAP3K7 MAPKAPK5 MAPKBP1 MAPT MARS2 MBTPS2 MCM7 MCPH1 MED12 MED27 METTL27 METTL5 MFSD2A MID1 MKKS MKS1 MLXIPL MMP1 MNX1 MORC2 MPZ MT-TT MTFMT MTMR14 MYCN MYF6 MYH11 MYL9 MYLK MYO1H MYOCD MYRF NAB2 NBN NCAPD3 NCAPG2 NCF1 NDUFB8 NEFL NEXMIF NF2 NFIA NGF NIPA1 NIPBL NKX2-1 NOTCH2NLC NOTCH3 NPHP3 NR4A2 NRIP1 NSD1 NUP37 OTUD5 PAH PAK2 PANK2 PAX2 PAX6 PBX1 PDCD1 PDGFB PDGFRB PEX11B PEX3 PHC1 PI4KA PIGA PIGN PIGO PIGQ PIK3CA PIK3R5 PINK1 PLA2G6 PLEC PLOD1 PLP1 PLXNA1 PMP22 PNPT1 POLG POLG2 POLR3A POLRMT POR POT1 PPOX PPP3CA PRDM8 PRKAR1B PRMT7 PRNP PSAP PSMD12 PUF60 PYCR2 RAC2 RAD21 RALGAPA1 RARB RASA1 RBCK1 RBM8A RECQL4 REEP1 REEP2 RERE RETREG1 RFC2 RNF125 RNF168 RNF170 ROBO1 ROBO2 RPL11 RREB1 RRM2B RSRC1 RTN2 RYR1 SACS SALL1 SALL4 SARS1 SASS6 SBF1 SCN9A SDHA SDHAF1 SDHB SDHD SEC24C SEMA3E SETD2 SETX SF3B2 SH2B1 SHANK3 SIGMAR1 SIX1 SIX5 SLC12A3 SLC1A4 SLC20A2 SLC25A13 SLC25A4 SLC2A1 SLC35A2 SLC44A1 SLC5A2 SLC9A6 SMAD3 SMARCA2 SMARCB1 SMARCE1 SMC1A SMC3 SMO SNCA SNCAIP SOX17 SP110 SPART SPAST SPG11 SPG7 SPOP SPTLC1 SQSTM1 STAMBP STAT1 STAT6 STIL STK11 STRA6 STUB1 STX1A SUFU SYNE1 TAF13 TBCD TBCK TBL2 TBP TBX1 TBXT TERT TGFB1 TIMM50 TMEM270 TNXB TOM1 TP63 TPP1 TRAF7 TRAPPC10 TRAPPC12 TRAPPC14 TRIO TRPS1 TRPV4 TRRAP TTR TWNK TYROBP UBAP1 UBE2A UFC1 UFD1 UNC45A UPB1 VANGL1 VANGL2 VCP VPS11 VPS35 VPS37D WARS1 WASHC5 WDR62 WFS1 WNT4 WNT7B WWOX ZC4H2 ZEB2 ZFYVE26 ZMIZ1 ZMYM2 HP_ABNORMALITY_OF_THE_BREAST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BREAST AAGAB AARS1 ABCD4 ACD ACOX1 ACTB ADNP AFF4 AIP AKT1 AKT2 ALG11 ALG12 ALG14 ALG2 ALG3 ALG8 ALG9 ALMS1 AMER1 AMMECR1 ANOS1 ANTXR1 APC AR ARCN1 ARHGAP31 ARHGEF2 ASH1L ASXL1 ASXL3 ATM ATN1 ATR AXIN2 AXL B3GLCT B4GALT1 BAP1 BARD1 BICRA BLM BMP15 BMP6 BMPR1A BNC1 BRAF BRCA1 BRCA2 BRD4 BRIP1 C18orf32 CACNA1C CARS1 CASP10 CASP8 CBL CCDC141 CCDC22 CCDC47 CDC45 CDC6 CDH1 CDH11 CDH2 CDH23 CDK13 CDK4 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDT1 CERT1 CHAMP1 CHD7 CHEK2 CHRNG CHST3 CILK1 CKAP2L COG1 COG7 COL14A1 COLEC10 COLEC11 COQ8A COX7B CPE CPLX1 CPT2 CSPP1 CTBP1 CTNNB1 CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DCC DDX6 DEF6 DES DHCR7 DHODH DHX37 DLK1 DMRT3 DPAGT1 DPM1 DPYSL5 DUSP6 DYRK1A EBF3 EDA EDARADD EED EFNB1 ERBB2 ERCC2 ERCC3 ERCC6 ERMARD ESR1 EXOC2 EZH2 FAS FASLG FAT4 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FIG4 FLRT3 FMR1 FOXA2 FOXL2 FRAS1 FREM2 FSHB FSHR GATA4 GDF11 GLI2 GMNN GNAS GNB2 GNE GNPTAB GNRH1 GNRHR GPC3 GPC4 GPR101 GRIP1 GTF2E2 GTF2H5 H3-3A H4C9 HDAC4 HDAC8 HESX1 HFE HMMR HNRNPK HPGD HS2ST1 HS6ST1 HSD17B3 HSD3B2 IBA57 IDH1 IDH2 IGF1R IKBKG IL17RD INSR INTU IRF4 ITGA3 JARID2 KANSL1 KAT6A KATNB1 KCTD1 KDM1A KDM5B KDM6A KDM6B KIAA0586 KIF15 KIFBP KISS1 KISS1R KLLN KMT2B KMT2D KNSTRN KRAS KRT10 LAMA5 LAS1L LBR LEP LEPR LETM1 LHB LHX4 LMNA LZTR1 MAB21L1 MADD MAF MAN1B1 MAP2K1 MAP3K1 MAPRE2 MASP1 MBD4 MC1R MDH2 MDM2 MECP2 MEFV MEG3 MEGF8 MEN1 MGAT2 MGMT MITF MLH1 MPLKIP MRAS MRE11 MRPS22 MSH2 MSH4 MSH6 NBN NDNF NECTIN1 NELFA NF1 NFIX NHLH2 NIN NIPBL NONO NQO2 NR0B1 NR5A1 NRAS NSD2 NSMF NTHL1 NUP107 NUP188 OPCML ORC1 ORC4 ORC6 OTX2 PACS1 PALB2 PALLD PDE11A PEX2 PEX3 PGAP2 PGAP3 PHB1 PHF6 PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3CD PLXND1 PMM2 PNPLA6 POC1A POLD1 POLE POLR3A POLR3H PORCN POT1 POU1F1 PPM1D PPP1CB PPP2R5D PRKAR1A PRKCD PRKN PRLR PROK2 PROKR2 PROP1 PSAT1 PSMB8 PSMC3IP PTEN PTPN11 PTPRF RAB18 RAB3GAP2 RABL3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54L RAF1 RASA2 RASGRP1 RB1CC1 RBM28 RELA RERE REV3L RFT1 RIPK4 RIT1 RNF113A RNF216 RNF43 RPS20 RRAS RRAS2 RSPO1 RSPO2 RTL1 SCN4A SDHB SDHC SDHD SEC23B SEMA3A SEMA3E SEMA4A SET SETBP1 SH3PXD2B SLC22A18 SLC25A24 SLC25A46 SLC29A3 SLC35A2 SLC6A17 SLCO2A1 SMAD4 SMARCA2 SMC1A SMC3 SMC5 SMCHD1 SMPD4 SMS SOS1 SOS2 SOX10 SOX3 SOX6 SOX9 SPIDR SPRED2 SPRY4 SPTBN1 SRA1 SRD5A3 SRY STAG1 STK11 STT3A TAC3 TACR3 TARS1 TBL1XR1 TBX3 TCF20 TCF4 TERF2IP TERT TFAP2A TFAP2B TIMM50 TMCO1 TMEM53 TMEM94 TNRC6B TOGARAM1 TP53 TP63 TRAF7 TRRAP TTC5 TUBB TWIST1 TWIST2 UBA2 UBE2A UBR1 USF3 USP9X VAC14 VAMP7 VPS35L WAC WASF1 WASHC5 WDR11 WDR19 WDR37 WLS WNT3 WNT7A WRN WT1 WWOX XRCC3 YY1 ZBTB20 ZC4H2 ZEB2 ZFPM2 ZFTA ZMYND11 ZNF148 ZSWIM7 HP_ABNORMALITY_OF_THE_CALCANEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALCANEUS ADAMTSL1 AEBP1 ATP6AP2 CCDC8 COL1A2 COL2A1 DLK1 DYM ECEL1 EZH2 FBN1 FLNA FLNB GFM2 GJB2 GJB6 HADHA HADHB HDAC6 HOXD10 KANSL1 LBR MEG3 MET NALCN OBSL1 PHGDH RAB33B RSPRY1 RTL1 SATB2 SYT1 TNNI2 TPM2 ZEB2 HP_ABNORMALITY_OF_THE_CALF https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF ACAN ACP5 ACTA1 ACTB ADGRV1 ADNP AFF3 AFF4 AIFM1 ALG12 ALPL AMER1 ANAPC1 ARCN1 ARSB ARSK ATP7A ATR ATRX B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BGN BHLHA9 BMP1 BMPR1B BPNT2 BRAF BRF1 BUD23 CAMK2A CANT1 CBFB CBS CCDC47 CCN6 CDC45 CENPT CEP120 CFL2 CHD7 CHEK2 CHST3 CILK1 CLCN5 CLCN7 CLIP2 CLTCL1 COG4 COG5 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CRTAP CSGALNACT1 CTC1 CTNS CYP19A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 DDR2 DDRGK1 DDX6 DLK1 DMP1 DNAJC30 DONSON DYM DYNC2H1 DYNC2I1 DYNC2LI1 EFL1 EHHADH EIF2AK3 EIF4A3 EIF4H ELN EN1 ENPP1 EVC EVC2 EXT1 EXT2 FBN1 FGF23 FGFR2 FGFR3 FIBP FKBP6 FLNA FLNB FN1 FZD2 GABRA1 GABRD GABRG2 GALNS GAN GDF5 GLB1 GLI1 GLI3 GNPTG GORAB GPC6 GPX4 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HBB HCN1 HEATR3 HERC2 HPGD HS2ST1 HS6ST1 HSPG2 HYLS1 IARS2 IDH1 IDUA IFIH1 IFT122 IFT172 IFT57 IHH IL6ST INPPL1 INTU IPO8 KAT6A KDELR2 KIF22 KIF7 KLHL41 KRAS LAMA5 LBR LIFR LIMK1 LMBR1 LMOD3 LMX1B LONP1 LRP5 LTBP1 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MATN3 MBTPS2 MCTP2 MEG3 MEGF8 MET METTL27 MKRN3 MLXIPL MMP13 MMP9 MPZ MTAP MTX2 NANS NCF1 NDUFAF6 NEB NEK1 NEK8 NEK9 NEPRO NF1 NKX3-2 NOTCH2 NPAP1 NSD1 OCRL ORC1 ORC6 P3H1 P4HTM PAPPA2 PAPSS2 PCDH19 PCNT PCYT1A PDGFRB PEPD PHEX PITX1 PLOD2 PMP22 POLR1A POLR3A POLRMT POR PRKACA PRKACB PRKG2 PRR12 PTH1R PUS3 PWAR1 PWRN1 RAB23 RAB33B RAD21 RB1 RBM8A RECQL4 RFC2 RMRP RNU4ATAC RPGRIP1L RPL13 RSPRY1 RTL1 RUNX2 SATB2 SCARF2 SCN1A SCN1B SCN2A SCN9A SEMA3E SERPINH1 SETBP1 SF3B2 SF3B4 SFRP4 SGMS2 SHH SHOX SKI SLC10A7 SLC26A2 SLC29A3 SLC31A1 SLC34A1 SLC34A3 SLC35A2 SLC35D1 SLCO2A1 SMOC1 SNORD115-1 SNORD116-1 SOX9 SP7 SPART SPTBN1 STX1A STX1B TAPT1 TBC1D7 TBL2 TBX15 TBXAS1 TCTN3 TENT5A TFE3 TGDS TGFB1 TMEM270 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TONSL TP53 TPM2 TRAPPC2 TRIP11 TRPS1 TRPV4 TRPV6 TUBB3 UFSP2 UGP2 VDR VPS13B VPS37D WDR62 WNT7A XYLT1 ZBTB20 ZEB2 ZNF699 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE AAAS ANO5 AR BIN1 CAPN3 CAV3 CHCHD10 CIDEC CRPPA DAG1 DES DHX16 DMD DNM2 DPM3 DYSF FBN2 FHL1 FKRP FKTN FLNC FRG1 GMPPA GMPPB HINT1 KCNA1 KLHL9 LAMA2 LARGE1 LIMS2 LMNA LTBP4 MAP3K20 MATR3 MICU1 MTMR14 MYF6 MYH7 NEB PLEC PLIN1 PMP22 PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPARG REEP1 RYR1 SACS SGCA SGCB SGCD SGCG SLC25A1 SMN1 SPG11 TCAP TRAPPC11 TRIM32 TRPV4 TTN UNC45B VAPB VPS13A WASHC5 HP_ABNORMALITY_OF_THE_CAPITATE_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CAPITATE_BONE ATP7A BPNT2 DYNC2LI1 EVC EVC2 FGFR3 FLNA FLNB GLI1 PRKACA PRKACB SMOC1 HP_ABNORMALITY_OF_THE_CERVICAL_SPINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE ABCC9 ACAN ACTA1 ACTB ACTG1 ADA2 ADAT3 AEBP1 AFF3 AIFM1 ALDOA ALG8 ALG9 AMMECR1 ANKRD11 ANKRD55 ANTXR2 AP5Z1 APC ARL6 ARSL ARVCF ATP6V1B2 ATRX B3GALT6 B3GAT3 B3GLCT BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BGN BMPER BPTF BRAF BRD4 BRF1 BUB1B C2CD3 CANT1 CBL CCDC22 CCDC8 CCN6 CD247 CD96 CDH11 CDK5 CEP19 CEP290 CEP55 CFAP418 CFL2 CHN1 CHRNA1 CHRND CHRNG CHST14 CHST3 CLDN11 CLP1 COG1 COG5 COG7 COL11A1 COL11A2 COL12A1 COL2A1 COL6A1 COL6A2 COL6A3 COMP COMT CREBBP CRLF1 CSGALNACT1 CTDP1 CTNND2 CUL4B CUL7 DCC DDR2 DDRGK1 DDX3X DHCR7 DHX37 DLK1 DLL3 DOK7 DONSON DPYD DPYSL5 DSE DVL1 DVL3 DYM DYRK1A EBP ECEL1 EFNB1 EMD EP300 ERCC1 ERCC2 ERCC5 ERCC6 ERMARD ESCO2 EXOC6B EXOSC9 EXTL3 FAM20C FANCB FANCI FANCL FBN2 FGD1 FGFR1 FGFR2 FGFR3 FHL1 FKRP FLI1 FLNA FLNB FN1 FOXA2 FREM2 FTO FUCA1 FZD2 GABRA3 GALNS GATA1 GATA4 GDF3 GDF6 GJA5 GJA8 GLB1 GLE1 GLI2 GMPPB GNAS GNPTG GNS GP1BB GPC3 GPC4 GPC6 GPKOW GPX4 GUSB GZF1 H4C5 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HECTD4 HES7 HESX1 HIRA HNF1B HNRNPR HPDL HRAS HS2ST1 HSPA9 HSPG2 HTRA1 IDH1 IDS IDUA IFT140 IFT172 IFT27 IFT74 IGBP1 IL2RA IL2RB IL6ST INPPL1 INTS1 INTU JMJD1C KCNH1 KCNJ8 KCNMA1 KCNN3 KIAA0586 KIF26A KIF7 KIFBP KLHL41 KNSTRN KRAS LAMA5 LARGE1 LFNG LHX3 LHX4 LIFR LMOD3 LMX1B LZTFL1 LZTR1 MADD MAFB MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MECP2 MED12 MED13L MEG3 MEGF8 MEOX1 MESP2 MGAT2 MICU1 MKKS MKS1 MMP2 MPL MRPL12 MRPS28 MSL3 MUSK MYH3 MYL11 MYO18B NAA10 NALCN NANS NBAS NBN NEB NEK9 NF1 NIPBL NKX3-2 NLRP1 NOTCH2 NOTCH3 NPHP1 NRAS NUP188 NUP88 NXN OBSL1 OTUD6B OTX2 PAFAH1B1 PAICS PALB2 PAM16 PGAP1 PGAP2 PGAP3 PHGDH PIEZO2 PIGA PIGL PIGN PIGO PIGV PIGW PIGY PIK3CD PKDCC PLXNA1 POGZ POLE POLR3A POMT1 POMT2 POP1 POU1F1 PPP1CB PPP1R15B PRMT7 PROP1 PSAT1 PSMD12 PTCH1 PTPN11 PTPN2 PTPN22 PUF60 RAB23 RAB33B RAB5IF RAD21 RAF1 RB1 RDH11 RFT1 RFX7 RIPK4 RIPPLY2 RIT1 RMRP RNU4ATAC ROBO3 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPRY1 RTL1 RYR1 SALL4 SATB2 SCAPER SCLT1 SCN4A SCYL2 SDCCAG8 SEC24C SEMA5A SETBP1 SF3B4 SHOC2 SHOX SKI SLC26A2 SLC2A1 SLC35B2 SLC35D1 SMAD3 SMAD4 SMARCAL1 SMC1A SMC3 SMPD4 SMS SNRPN SOS1 SOS2 SOX9 SPRED1 SPRED2 SRCAP STAT4 STX16 STXBP1 TAF1 TALDO1 TAPT1 TBCK TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX6 TCF4 TCTN2 TECPR2 TFAP2A TGDS TGFB3 TGFBR1 THPO TIMM50 TMCO1 TNNI2 TNNT3 TOR1A TPM2 TRAPPC2 TRAPPC9 TRIM32 TRIP11 TRMT10A TRPM3 TRPV4 TSR2 TTC8 TUBB TXNDC15 UBE2A UFD1 UNC80 VPS33A VPS35L WAC WASHC5 WDPCP WDR35 WNT4 WNT5A WNT7A XYLT1 XYLT2 YWHAE ZC4H2 HP_ABNORMALITY_OF_THE_CHIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHIN ABL1 ACAN ACTA1 ACTB ACTG1 ADAMTSL1 ADAMTSL4 ADNP AFF3 AGA AGPAT2 AIMP2 AIP ALDH1A2 ALG13 ALG14 ANKH ANKRD11 ANTXR1 AP1S2 AP4E1 AP4M1 APC APC2 ARID1B ASXL3 ATAD3A ATP10A ATP6V0A1 ATP6V1A ATP6V1E1 ATRX BAZ1B BCL7B BCR BICRA BMPR1A BRAF BSCL2 BUD23 CACNA1G CAMK2B CAMTA1 CASZ1 CAV1 CAVIN1 CBFB CCDC8 CDC42BPB CDH11 CDH2 CDK10 CHAMP1 CHD1 CHD7 CHD8 CHRNE CHRNG CLCN3 CLCN4 CLIC2 CLIP2 CNOT3 COA6 COL2A1 COL9A2 COLQ COX7B CRKL CSNK2B CTU2 CUL4B CUL7 CYP26C1 DDR2 DEAF1 DHX30 DHX37 DLK1 DNAJC30 DNM1L DNMT3A DOCK3 DST DYM DYRK1A EBF3 EDA EED EHMT1 EIF2S3 EIF4H ELN ERCC1 ERCC4 ERCC6 ERCC8 EXOSC5 EZH2 FAM20C FBN1 FBXO31 FBXW11 FGF3 FGFR1 FGFR2 FIG4 FKBP6 FLCN FLII FLNA FMR1 FN1 FOS FOXG1 FOXP1 FRA10AC1 GABRD GALNS GFPT1 GJA1 GJA5 GJA8 GLB1 GNB2 GNPTAB GORAB GPC3 GPC4 GPR101 GRB10 GRIA3 GRIA4 GTF2I GTF2IRD1 GTF2IRD2 H19 H3-3A H3-3B H4C5 HERC1 HERC2 HNF1B HNRNPH1 HRAS HS2ST1 HS6ST2 HSPG2 IARS2 IDUA IGF2 IL11RA IL1RAPL1 IL6ST INSR IQSEC2 ITCH JARID2 KANSL1 KAT5 KAT6A KCNAB2 KCNH1 KCNJ6 KCTD1 KDM3B KDM5C KDM6B KIF11 KIF7 KIFBP KNSTRN KPTN LAMB2 LIMK1 LMNA LMNB1 LMX1B LRP1 LRP4 LRP5 LTBP3 LUZP1 MADD MAF MAGEL2 MAN1B1 MAN2B1 MAP3K7 MAPK1 MBD5 MED12 MED12L MED13L MED25 MEF2C MEG3 MEIS2 MEN1 MESD METTL27 MGAT2 MLXIPL MMP23B MRAS MSTO1 MTOR MYH3 MYH7 MYH8 MYOD1 NAA10 NALCN NCF1 NDST1 NDUFS4 NEXMIF NFIA NFIX NGLY1 NHS NOTCH2 NR2F1 NRCAM NSD1 NSD2 NSRP1 NSUN2 OBSL1 OCA2 OCRL OPHN1 OTUD5 P4HTM PAPPA2 PARS2 PAX3 PCDHGC4 PCGF2 PDCD6IP PDE4D PDGFRB PDPN PGAP2 PGAP3 PGM2L1 PIEZO2 PIGB PIGL PIGO PIGS PIGU PIGV PIGW PIGY PIK3CD PIK3R1 PLK4 PLOD3 PMM2 POC1A POGZ POLR3A PORCN POU4F1 PPARG PPP1R21 PQBP1 PRDM16 PRKACB PRKAR1A PRKCZ PRKDC PRKG2 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTPN11 PUF60 PUS7 PYCR1 RAB33B RAF1 RAI1 RALA RECQL4 RERE RFC2 RFX7 RMRP RNF113A RNF125 RNF13 RNU4ATAC RPL10 RPS6KA3 RTL1 RUNX2 RUSC2 SCNM1 SCUBE3 SELENON SEMA3E SET SETBP1 SETD2 SFRP4 SH3PXD2B SHANK3 SIN3A SKI SLC10A7 SLC12A2 SLC25A24 SLC26A2 SLC35A2 SLC35C1 SLC37A4 SLC6A17 SLC6A8 SLC9A6 SLF2 SMAD4 SMARCA2 SMPD4 SMS SNRPN SNX14 SOST SOX11 SOX18 SPECC1L SPEN SPOP SPRED2 SPTBN1 SRCAP STAG2 STEEP1 STT3A STX1A STXBP1 SUFU SUZ12 SVIL TAF1 TAFAZZIN TBC1D2B TBC1D7 TBCK TBL2 TBX22 TFAP2A TGFB1 THOC6 THUMPD1 TLK2 TMEM270 TMEM94 TNFSF11 TNNI2 TONSL TPRKB TRIO TRIP12 TRPS1 TTC5 TTN TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNL4A UBE3A UBE4B UGDH UPF3B VAC14 VPS37D WAC WDR62 XRCC4 YY1 ZBTB24 ZEB2 ZMPSTE24 ZNF148 ZNF292 ZNF526 HP_ABNORMALITY_OF_THE_CHOANAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHOANAE ADGRG1 ANTXR1 ARID1B ARVCF ASXL3 BCR BRCA1 BRCA2 BRD4 BRIP1 BUB1 CDC45 CDH1 CDON CEP55 CHD7 COMT CRKL DCHS1 DHCR7 DHODH DISP1 DLL1 EFTUD2 EPCAM ERCC4 ERF FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FOXE1 FOXH1 FRAS1 GAS1 GLI2 GLI3 GLIS3 GP1BB GRIN2B HDAC8 HIRA IGBP1 IRF6 ITCH JMJD1C KMT2D LMNA MAD2L2 MAPK1 MBTPS2 MED12 MSL3 NBN NFIX NIPBL NODAL OFD1 PAICS PALB2 PERCC1 PI4KA POLR1A POLR1B POLR1C POLR1D POR PTCH1 PTDSS1 PTH1R PTPN14 RAD21 RAD51 RAD51C RECQL4 RERE RFWD3 RPL11 RPS26 RREB1 SALL1 SALL4 SCARF2 SEC24C SEMA3E SETBP1 SHH SIX3 SLC12A2 SLC37A4 SLX4 SMC1A SMC3 SMCHD1 SOST SPINT2 SRPX2 SUFU TBX1 TCOF1 TCTN3 TDGF1 TGIF1 TP63 TWIST1 TXNL4A UBE2T UFD1 USP9X WAC WBP11 WNT3 XRCC2 ZIC2 ZMPSTE24 ZNF335 HP_ABNORMALITY_OF_THE_CLITORIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CLITORIS AGPAT2 AR ARID1B ATIC ATR B3GLCT BSCL2 CAV1 CAVIN1 CCNQ CD96 CDC45 CDC6 CDT1 CEP152 COX7B CYP11A1 CYP11B1 DHCR7 DHX37 DMRT3 DVL1 DVL3 ESCO2 FDXR FGFR2 FIG4 FOS FRAS1 FZD2 GAD1 GATA4 GMNN HCCS HERC2 HSD3B2 INSR ISL1 KAT6B MAGEL2 MAP3K1 MED25 MINPP1 MKRN3 NDN NDUFB11 NPAP1 NR0B1 NR5A1 OCA2 ORC1 ORC4 ORC6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POC1A POR PORCN PPARG PPP1R12A PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 ROR2 RSPO1 SIM1 SNORD115-1 SNORD116-1 SNRPN SOX9 SRY TALDO1 TBC1D20 TOE1 TP63 TRAIP UBE3B UBR1 VAC14 VAMP7 WNT5A WT1 WWOX ZFPM2 HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE ACAD9 ADK AGA AHCY AKR1D1 ALDOB ALG12 ALG2 ALG6 ALG8 AMACR ANK1 ANO6 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BCOR BRAF CACNA1S CD46 CFH CFI CLPB COG2 COG4 COG8 COX16 CYP7B1 DDOST DPAGT1 DPM1 DPM2 EFL1 EPB42 F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FAH FGA FGB FGG FIP1L1 FLNA FOXP2 GFI1B GGCX GNA14 GNE GP1BA GP1BB GP6 GP9 GPR35 HADH HAVCR2 HELLPAR HLA-DQA1 HLA-DQB1 HMGCL HRG HSD17B10 HSD3B7 IKZF5 IRF2BP2 ITGA2B ITGB2 ITGB3 KNG1 LARS1 LMAN1 LYST LZTR1 MAP2K1 MCFD2 MCM10 MGAT2 MICOS13 MPDU1 MPI MST1 MTTP NABP1 NBAS NBEAL2 NGLY1 NLRC4 NPM1 NR1H4 NUMA1 OSTM1 OTC PET100 PGM1 PLG PLOD3 PML PMM2 PRF1 PRKAR1A PROC PROS1 PTPN11 RARA RFT1 RINT1 RYR1 SEMA4D SERAC1 SERPINC1 SERPINE1 SLC25A13 SLC25A15 SLC30A10 SLC37A4 SLC4A1 SLC7A7 SOS1 SOS2 SPTA1 SPTB SRD5A3 SSR4 STAT3 STAT5B STX11 STXBP2 TBL1XR1 TCF4 TNFRSF9 TRMU UNC13D VKORC1 VWF XIAP ZBTB16 HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY AHCY ALG12 ALG6 ANK1 ANO6 B4GALT1 BCOR BRAF CD46 CFH CFI EPB42 F10 F13A1 F13B F5 FGA FGB FGG FIP1L1 GGCX GNA14 HAVCR2 HELLPAR HRG IRF2BP2 ITGB2 LMAN1 LYST MAP2K1 MCFD2 MCM10 MGAT2 MPI NABP1 NGLY1 NLRC4 NPM1 NUMA1 PLG PML PRF1 PRKAR1A PTPN11 RARA SERPINC1 SERPINE1 SLC37A4 SLC4A1 SLC7A7 SPTA1 SPTB STAT3 STAT5B STX11 STXBP2 TBL1XR1 TNFRSF9 UNC13D VKORC1 XIAP ZBTB16 HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION ALPL ARSL CTNS CYP27B1 CYP2R1 DDR2 DLK1 DNAJC21 DYM FGFR3 MEG3 NOG PHEX PRKG2 RTL1 SBDS SLC26A1 SLC34A1 SLC34A3 SRP54 VDR HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX DHX30 EDN1 FGFR2 FGFR3 GNAI3 HS2ST1 NSD2 PLCB4 STEEP1 TCTN3 TWIST1 ZNF462 HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA AARS1 ABCA4 ADNP AEBP1 AGBL5 AHI1 AHR AIPL1 ALDH3A2 ANKRD11 ANTXR1 AP1B1 AP3D1 APC2 ARCN1 ARHGEF18 ARHGEF2 ARID1B ARL2BP ARL3 ARL6 ARPC4 ARSG ASH1L BAP1 BAZ1B BBS1 BBS2 BBS9 BCL7B BEST1 BLOC1S3 BRCA1 BRCA2 BRIP1 BUD23 C1QBP CA4 CACNA1F CAMK2B CAMSAP1 CAMTA1 CARS1 CC2D2A CCDC28B CCDC47 CDHR1 CEP290 CEP78 CERKL CFAP418 CHD3 CHD4 CHMP1A CHRDL1 CHST14 CHST6 CLDN11 CLDN16 CLDN19 CLIP2 CLRN1 CNGA1 CNGA3 CNGB1 COL17A1 COL1A2 COL25A1 COL3A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 CRB1 CRX DHDDS DHX38 DNAJC21 DNAJC30 DPAGT1 DPYD DSE DYRK1A EBF3 EDEM3 EIF4H ELN EMC1 ERCC2 ERCC3 ERCC4 EXOSC5 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW7 FIBP FKBP6 FLNA FSCN2 GALNT2 GATAD2B GDF6 GLRB GNB5 GNPTAB GPR143 GRHL2 GRIA1 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D H1-4 HARS1 HDAC4 HGSNAT HK1 HRAS IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 INTS1 IQCB1 KAT6A KCNJ13 KCNV2 KDM5B KERA KIAA1549 KIDINS220 KIF11 KIZ KLHL7 KMT2B KRAS LCA5 LIG4 LIMK1 LMBRD2 LMX1B LRAT MAD2L2 MAG MAK MAN2B1 MAP3K7 MAPK8IP3 MARK3 MBD5 MBTPS2 MERTK METTL27 MIR184 MLXIPL MPLKIP MT-TS2 MYO1H NCF1 NEK2 NEUROD2 NFIX NIPBL NMNAT1 NOG NR2E3 NR2F1 NRL NSD1 OFD1 OTUD5 OVOL2 P4HTM PACS2 PALB2 PAX2 PBX1 PCARE PCYT1A PDE6A PDE6B PDE6G PDZD8 PIEZO2 PIGQ PIGT PIK3R1 PITX2 PLOD1 POGZ POLR3GL POMGNT1 PPP1R12A PPP2R5D PRCD PRDM5 PRKAR1B PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAD51 RAD51C RBP3 RD3 RDH12 RECQL4 REEP6 RERE RFC2 RFWD3 RGR RHO RHOA RLBP1 RNF113A RNF2 RNU4ATAC ROBO3 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SCUBE3 SEMA4A SETBP1 SETD2 SETD5 SHOC2 SLC25A24 SLC2A10 SLC38A8 SLC39A8 SLC4A11 SLC7A14 SLX4 SMARCAL1 SMG8 SNRNP200 SPATA7 STX1A STXBP1 TARS1 TBC1D2B TBC1D7 TBCE TBL2 TCEAL1 TCF4 TEAD1 TFE3 TGFB2 TGFBI TMEM270 TNPO2 TOPORS TRIM37 TTC8 TUB TUBA3D TUBB4B TULP1 TYR UBE2T UBE3B USH2A USP45 USP9X VARS1 VPS37D VSX1 WAC XRCC2 YY1 ZBTB7A ZEB1 ZEB2 ZFHX4 ZMIZ1 ZNF408 ZNF469 ZNF513 HP_ABNORMALITY_OF_THE_DENTITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DENTITION AARS1 ABCA12 ABCA5 ABCC9 ABL1 ACD ACOX1 ACP4 ACP5 ACSL4 ACTA1 ACTL6B ACVR1 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAT3 ADGRV1 ADNP AEBP1 AFF3 AGA AGO2 AGXT AHCY AIMP2 AIP AIRE AKT1 ALDH3A2 ALDOB ALKBH8 ALMS1 ALOX12B ALOXE3 ALPL ALX3 ALX4 AMBN AMELX AMER1 AMMECR1 AMTN ANAPC1 ANKH ANKRD11 ANOS1 ANTXR1 ANTXR2 AP3B1 AP3B2 APC APC2 APCDD1 ARHGAP29 ARHGEF38 ARID1A ARID1B ARID2 ARL6 ARSB ARSK ARV1 ARVCF ASPH ASPRV1 ASXL3 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRIP ATRX AXIN2 B3GALT6 B3GAT3 B3GLCT B4GALT7 BANF1 BAP1 BAZ1B BBS1 BBS4 BCAS3 BCL11B BCL7B BCOR BLM BMP1 BMP2 BMP4 BPTF BRAF BRCA1 BRD4 BRF1 BUD23 C12orf57 C1R C1S C2CD3 CA2 CACNA1A CACNA1B CACNA1C CACNA1I CACNA2D1 CAMK2B CAMTA1 CARS1 CAT CAV1 CBFB CBS CCBE1 CCDC134 CCDC141 CCDC28B CCDC47 CCDC8 CCN2 CCR6 CDC42 CDC42BPB CDH1 CDH11 CDH23 CDH3 CDK10 CDK13 CDK19 CDK5RAP2 CDON CDSN CELF2 CENPE CENPJ CEP120 CEP152 CEP85L CERT1 CFAP418 CHD3 CHD7 CHRNE CHRNG CHST3 CHSY1 CIB2 CILK1 CKAP2L CLCN7 CLDN1 CLDN19 CLEC7A CLIP2 CLP1 CLPB CLTC CNKSR2 CNNM4 CNOT1 CNOT2 COBLL1 COG6 COL11A1 COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL7A1 COL9A2 COMT COX4I2 COX7B CPLX1 CREB3L1 CREBBP CRLF1 CRTAP CSTB CTBP1 CTC1 CTCF CTDP1 CTNND1 CTSC CTSK CUL4B CUL7 CUX1 CXCR4 CYFIP2 CYP27A1 CYP27B1 CYP2R1 CYP4F22 DALRD3 DCAF17 DCC DCHS1 DDB2 DDR2 DDX59 DEAF1 DHCR7 DHDDS DHODH DHX37 DIAPH1 DISP1 DKC1 DLG1 DLL1 DLX3 DLX4 DMP1 DNA2 DNAJC21 DNAJC30 DNM1 DNMT3A DOCK3 DOCK7 DPF2 DPH1 DPH2 DPH5 DPM2 DPP6 DPYD DSC3 DSE DSG4 DSP DSPP DUSP6 DVL1 DVL3 DYNC2LI1 DYRK1A EDA EDA2R EDAR EDARADD EDN1 EDNRA EEF1A2 EFL1 EFNB1 EHMT1 EIF2S3 EIF4A3 EIF4H ELANE ELMO2 ELN EMC10 ENAM ENPP1 EP300 EPS8L3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN EVC EVC2 EXOSC5 EXT1 EYA1 FAM111A FAM20A FAM20C FAM83H FARS2 FAT4 FBN1 FBXO28 FERMT1 FEZF1 FGD1 FGF10 FGF12 FGF13 FGF17 FGF23 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FKBP6 FLCN FLII FLNA FLNB FLRT3 FN1 FOXC1 FOXH1 FRAS1 FREM1 FREM2 FUCA1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALNS GALNT3 GAS1 GATA1 GATAD2B GDF5 GFI1 GFPT1 GHR GJA1 GJA5 GJA8 GJB2 GJB6 GLB1 GLI1 GLI2 GLI3 GNAI3 GNAS GNB2 GNRH1 GNRHR GON7 GORAB GP1BB GPC3 GPC4 GPR101 GPR68 GRB10 GREM2 GRHL2 GRHL3 GRIA3 GRIN2D GRIP1 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 H4C5 HACD1 HBB HCCS HCN1 HDAC4 HDAC8 HECTD4 HEPHL1 HERC2 HESX1 HIRA HIVEP2 HK1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HMGB3 HNRNPH1 HNRNPK HOXC13 HOXD13 HRAS HS2ST1 HS6ST1 HSPA9 HSPG2 HUWE1 IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT43 IFT52 IFT57 IGF1 IGF2 IKBKG IL11RA IL17F IL17RA IL17RC IL17RD IL1RAPL1 IL6ST INSR INTU IQSEC2 IRF5 IRF6 IRX5 ITGA6 ITGA7 ITGB2 ITGB4 ITGB6 JMJD1C JUP KANSL1 KAT6A KAT6B KATNB1 KCNA2 KCNB1 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNK9 KCNMA1 KCNN3 KCNQ1OT1 KCTD1 KDF1 KDM1A KDM5C KDM6A KDM6B KIAA0753 KIDINS220 KIF15 KIF1C KIF7 KIFBP KISS1 KISS1R KLK4 KMT2A KMT2C KMT2D KRAS KREMEN1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LAGE3 LAMA3 LAMB3 LAMC2 LARP7 LBR LEMD2 LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LIPH LIPN LMBRD2 LMNA LMNB1 LMX1B LONP1 LORICRIN LOX LPAR6 LRP4 LRP5 LRP6 LTBP2 LTBP3 LYST MADD MAF MAGEL2 MAN2B1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MASP1 MBD5 MBTPS2 MCOLN1 MCTP2 MECP2 MED12 MED13L MED27 MEGF8 MEIS2 MESD METTL27 MGAT2 MIA3 MID1 MKRN3 MKS1 MLXIPL MMP1 MMP13 MMP2 MMP20 MPLKIP MSX1 MSX2 MTM1 MTX2 MYH3 MYL2 MYMX MYO7A MYOD1 MYSM1 NAA10 NAA20 NALCN NARS1 NCF1 NDNF NDST1 NDUFB11 NECAP1 NECTIN1 NECTIN4 NEDD4L NEK1 NELFA NEPRO NF1 NFIX NFKBIA NGF NHLH2 NHP2 NHS NIPAL4 NIPBL NKX2-1 NMNAT1 NODAL NONO NOP10 NOTCH2 NOTCH3 NPAP1 NPHS1 NPM1 NRAS NSD1 NSD2 NSDHL NSMF NSUN2 NTRK1 NTRK2 NUP107 NUP133 NUP85 NUS1 NXN OBSL1 OCA2 OCRL ODAPH OFD1 ORAI1 ORC1 OSGEP OTUD5 P3H1 P4HB PACS1 PACS2 PAK2 PAPPA2 PARN PARS2 PAX1 PAX9 PCDH15 PCGF2 PCNT PCYT1A PDE4D PDGFRA PDGFRB PDZD7 PEPD PERP PEX1 PEX6 PGAP1 PGM2L1 PHEX PIGA PIGF PIGG PIGK PIGL PIGS PIGT PIK3C2A PIK3R1 PITX2 PKP1 PLCB4 PLCH1 PLEC PLEKHM1 PLG PLK4 PLOD1 PLOD3 PLXNA1 PLXND1 PNPLA6 POC1A POF1B POLD1 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3B POLR3GL POLR3K POP1 PORCN POU4F1 PPIB PPP1CB PPP1R15B PPP2R3C PPP3CA PQBP1 PRDM5 PRIM1 PRKACA PRKACB PRKAR1A PRKD1 PRMT7 PROK2 PROKR2 PRR12 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTHLH PTPN11 PTPRF PUF60 PURA PUS7 PWAR1 PWRN1 PYROXD1 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAI1 RBBP8 RBM28 RDH11 RECQL RECQL4 RELT REV3L RFC2 RHOA RHOBTB2 RIC1 RIGI RIN2 RIPK4 RLIM RMRP RNF113A RNF13 RNF2 RNU12 ROGDI ROR2 RPL10 RPL21 RPS23 RPS6KA3 RREB1 RSPO1 RSPRY1 RTEL1 RUNX2 RUSC2 SASH1 SATB1 SATB2 SBDS SCARF2 SCN3A SCN4A SCN8A SCNM1 SCUBE3 SDR9C7 SEC23A SEC24C SEC24D SELENON SEMA3A SEMA3E SERPINF1 SERPINH1 SET SETBP1 SETD1A SETD2 SETD5 SFRP4 SGMS2 SH3BP2 SH3PXD2B SHANK3 SHH SHOC2 SIN3A SIN3B SIX1 SIX3 SKI SLC10A7 SLC12A2 SLC13A5 SLC1A2 SLC24A4 SLC25A24 SLC29A3 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC39A13 SLF2 SMAD2 SMAD3 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMOC1 SMOC2 SMS SNAP29 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SNX14 SOBP SON SOS1 SOST SOX10 SOX11 SOX18 SOX4 SOX5 SOX9 SP6 SP7 SPARC SPART SPECC1L SPEN SPRY4 SRCAP SRD5A3 SRP19 SRP54 SSR4 ST14 STAG1 STAG2 STAT3 STIL STIM1 STX16 STX1A SUFU SULT2B1 SUMO1 SUOX SYNGAP1 SYNJ1 SZT2 TAB2 TAC3 TACR3 TAF6 TANC2 TARS1 TBC1D24 TBC1D2B TBCD TBCE TBL1XR1 TBL2 TBX1 TBX3 TBX4 TCF12 TCF4 TCIRG1 TCOF1 TDGF1 TECPR2 TEKT3 TENT5A TERC TERT TFAP2A TFAP2B TGFA TGFB1 TGIF1 TGM1 THOC6 THRA TINF2 TMCO1 TMEM165 TMEM231 TMEM270 TNFRSF11A TNFRSF11B TNFSF11 TONSL TP53RK TP63 TPM2 TPM3 TPRKB TRAF3IP2 TRAF6 TRAIP TRAK1 TRIM37 TRIO TRIP11 TRMT10A TRPS1 TRPV3 TSC1 TSPAN7 TSPEAR TTC7A TTI2 TUBGCP2 TWIST1 TWIST2 TYMS UBA5 UBE3A UBE3B UBE3C UBR1 UFD1 UPF3B UROD UROS USB1 USH1C USH1G USH2A USP9X VAC14 VARS1 VDR VPS13B VPS37D VPS51 WDR11 WDR19 WDR26 WDR35 WDR4 WDR72 WDR73 WHRN WNT10A WNT10B WNT5A WRAP53 WWOX XPA XPC XRCC4 XYLT1 XYLT2 YRDC YWHAG YY1 ZBTB7A ZDHHC9 ZEB2 ZIC2 ZMPSTE24 ZMYM2 ZNF141 ZNF341 ZNF469 ZNF526 ZSWIM6 HP_ABNORMALITY_OF_THE_DIAPHRAGM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIAPHRAGM ABL1 ACTA1 ADAT3 ADGRG6 ALDH1A2 ALG9 ANAPC7 AR ARID1B ARID2 ASNS B3GAT3 BRD4 CD96 CDC42BPB CHRNG CHST3 CHUK COX7B CPLX1 CTBP1 DACT1 DHCR7 DIS3L2 DLL3 DNAJC19 EFEMP2 EFNB1 FBLN5 FLNA GATA4 GATA6 GDAP1 GLI3 GNB2 GNE GPC3 GPC4 HCCS HDAC4 HDAC8 HES7 HOXD13 HYLS1 IGHMBP2 KCNA1 KDM3B KDM6A KIAA0586 KIF7 KLHL40 KLHL41 KMT2D LETM1 LFNG LMOD3 LONP1 LRP2 LTBP4 MAF MAFB MAMLD1 MAP3K7 MCTP2 MEGF10 MEGF8 MESP2 MID1 MN1 MTHFR MTM1 MYOD1 MYRF NDUFAF5 NDUFB11 NEB NELFA NIPBL NR2F2 NSD2 NUAK2 PBX1 PCNA PIGG PIGN PLOD3 POGZ PORCN PPM1D RAD21 RARB REEP1 RIPPLY2 RLIM RPS26 RPS28 RSPO2 SEC31A SF3B4 SH2B1 SIN3A SLC2A10 SMARCB1 SMC1A SMC3 STAG2 STRA6 TRAIP TRIP4 TRRAP VANGL2 WLS WNT3 WNT4 WNT7B WT1 ZFPM2 ZNF699 HP_ABNORMALITY_OF_THE_DIENCEPHALON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIENCEPHALON AKT1 ANOS1 BAP1 BAZ1B BCL7B BRAF BUD23 CCDC141 CDH2 CDON CHD7 CLIP2 CLN8 COASY COX10 CP CPLANE1 CTNNB1 DCC DISP1 DLL1 DNAJC30 DUSP6 EIF4H ELN EXOC2 EXOC7 FAM149B1 FEZF1 FGF17 FGF8 FGFR1 FKBP6 FKRP FLRT3 FOXH1 FTL GAS1 GFAP GLI2 GLI3 GMPPB GPKOW GSX2 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 HESX1 HEXB HS6ST1 IL17RD JAM2 KIAA0753 KIF7 LEPR LHX3 LIMK1 MAGEL2 MAN2C1 MED17 METTL27 MFF MLXIPL MTRFR MYORG NCF1 NDE1 NDNF NDP NF2 NODAL OFD1 PDE6D PDGFB PIK3C2A PIK3CA PLCH1 POLG POMGNT1 POMK POMT1 POMT2 PROK2 PROKR2 PTCD3 PTCH1 RANBP2 RFC2 SCP2 SEMA3A SETD5 SHH SIM1 SIX3 SIX6 SLC2A1 SMARCB1 SMARCE1 SMC1A SMO SOX10 SOX2 SPG11 SPRY4 STAG2 STIL STX1A SUFU TACR3 TBL2 TCTN3 TDGF1 TERT TGIF1 TIAM1 TMEM216 TMEM270 TOPORS TRAF7 TREM2 TRH TUBA1A TUBB2B TUBB3 TWNK VPS16 VPS37D WDR11 ZIC2 HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES ARID1B ARSL CANT1 EOGT FGFR1 FGFR2 FIG4 GPC4 HOXD13 HS2ST1 KCNH1 KCNN3 LMNA MAP3K20 MED25 NOG PIGF PTHLH RIPK4 ROR2 TBR1 TRPV4 TWIST1 VAC14 ZMPSTE24 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_2ND_FINGER BMPR1B COL2A1 FGFR2 FIG4 NSDHL TWIST1 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_3RD_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_3RD_FINGER COL2A1 FGFR2 GNAS NSDHL TWIST1 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER ARID1B COL2A1 GJA1 HNRNPR IGF2 NPR2 SMARCB1 TFAP2B HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX CANT1 FGFR1 FGFR2 FIG4 HOXD13 MAP3K20 PTHLH TBR1 TWIST1 VAC14 HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB ALG9 BMPR1B BPNT2 CANT1 CHSY1 CILK1 CNOT1 CREBBP CWF19L1 EP300 FGFR2 FLNA FLNB GDF5 GLI1 GLI3 GNAS HOXD13 IHH KCNH1 KIF7 KNSTRN LMBR1 MAP3K7 MEGF8 PAH PIK3CD PPP2R3C PTCH1 SALL4 SLC26A2 HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD ABCD1 ALDH18A1 ATXN1 DARS2 FAR1 SETX HP_ABNORMALITY_OF_THE_ELBOW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ELBOW ABCC6 ABCC9 ACTA1 AEBP1 AFF3 ALDH18A1 ANO5 APC ARID1B ASAH1 ASPH ASXL1 ATP7A ATR B3GALT6 B3GAT3 B3GLCT B4GALT7 BANF1 BCOR BGN BMP1 BPNT2 BPTF BRAF BRD4 CANT1 CAPN3 CBL CCDC8 CCN6 CD96 CDC45 CDC6 CDT1 CHRNG CHST3 CLCF1 CLCN3 COL12A1 COL1A1 COL25A1 COL27A1 COL2A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP CPT2 CREBBP CRLF1 CSGALNACT1 CUL4B CUL7 CYP26B1 CYP27A1 DDR2 DMD DONSON DVL1 DVL3 DYM DYNC2LI1 DYSF ECEL1 EMD ENPP1 EP300 ERCC1 ERCC6 ERGIC1 ERLIN2 ESCO2 EVC EVC2 EXOC6B EXTL3 EZH2 FBN1 FBN2 FBXO28 FDFT1 FGF9 FGFR1 FGFR2 FGFR3 FHL1 FKBP10 FLNA FLNB FZD2 GALNS GDF5 GHR GJA1 GJB2 GLDN GLE1 GLI1 GMNN GNB1 GNB2 GNS GPC6 GRB10 GSC HACD1 HDAC8 HEATR3 HEPHL1 HNRNPH1 HOXA11 HRAS HS2ST1 HSPG2 IDUA IFITM5 IL6ST ITCH ITGA7 JAG2 KCNK9 KDM5C KIF22 KMT2A KRAS KY L1CAM LAMA2 LARGE1 LARS2 LBR LGI4 LIFR LMBRD2 LMNA LMX1B LRP4 LTBP3 LZTR1 MACROH2A1 MAFB MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MASP1 MATN3 MECOM MED12 MET MMP13 MUSK MYH3 MYL1 MYL11 MYL2 MYOT NALCN NF1 NIPBL NOG NOTCH2 NPR2 NUP107 NXN OBSL1 OPA3 ORC1 ORC4 ORC6 P4HTM PCNT PEX1 PEX2 PEX5 PIGA PIGY PIK3C2A PITX1 PLOD1 PLOD2 PLOD3 POP1 POR PPP1CB PPP2R3C PRG4 PRKACA PRKACB PRKAR1A PRMT7 PSMB8 PSMD12 PSTPIP1 PTDSS1 PTH1R PTPN11 PYCR1 RAB33B RAD21 RAF1 RECQL4 RMRP RNU4ATAC ROR2 RSPO2 RSPRY1 SALL4 SCARF2 SCN4A SCYL2 SELENON SF3B4 SFRP4 SHOC2 SHOX SIL1 SKI SLC25A46 SLC26A2 SLC29A3 SLC35B2 SLC39A13 SLC39A8 SLC6A9 SMAD6 SMC1A SMC3 SMOC1 SNRPB SOS1 SOX9 SPRED2 SPRTN SRCAP SRY STAG1 STXBP1 SVIL SYNE1 SYNE2 SYT2 TBX15 TBX3 TBX5 TDO2 TFAP2A TFE3 TMEM222 TMEM43 TONSL TOR1A TPM2 TPM3 TRAPPC2 TRPV4 TUBB3 UBA1 UNC80 VPS13B WDR11 WNT4 WNT5A WNT7A XYLT1 HP_ABNORMALITY_OF_THE_ENDOCRINE_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ENDOCRINE_SYSTEM AAAS ABCA4 ABCB11 ABCB4 ABCC6 ABCC8 ABCD1 ACP5 ACTG2 ADA ADA2 ADAMTSL1 ADAR ADAT3 ADCY3 ADCY5 ADGRG1 ADH5 ADNP ADORA2A AEBP1 AFF4 AGBL5 AGPAT2 AHI1 AHR AHSG AIP AIRE AK2 AKT1 AKT2 ALB ALDOA ALG1 ALG12 ALG14 ALG2 ALG3 ALG5 ALG6 ALG8 ALG9 ALMS1 ALX3 ALX4 AMACR AMH AMHR2 ANAPC1 ANK1 ANOS1 ANTXR1 ANTXR2 AP2S1 APC APC2 APOA5 APOE APPL1 AQP2 AR ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARL6IP6 ARMC5 ARMC9 ARNT2 ARSL ARVCF ARX ASH1L ASXL3 ATAD3A ATM ATP11A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATP7A ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX AVP AVPR2 AXL B3GLCT B4GALNT1 B4GALT1 B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL10 BCL7B BCOR BCS1L BEST1 BICC1 BICRA BIRC3 BLK BLM BMP15 BMP2 BMP4 BMP6 BMPR1A BMPR1B BNC1 BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRIP1 BSCL2 BSND BTG4 BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C14orf39 C1QBP C1S CA2 CA4 CACNA1C CACNA1D CACNA1H CACNA1S CAMKMT CARS1 CASK CASP10 CASR CASZ1 CAT CATIP CAV1 CAVIN1 CBL CBX2 CBY1 CC2D2A CCBE1 CCDC134 CCDC141 CCDC22 CCDC28B CCDC34 CCDC47 CCND1 CD55 CDC42 CDC42BPB CDC73 CDH23 CDHR1 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEL CELA2A CENPT CEP104 CEP112 CEP120 CEP19 CEP290 CEP41 CEP57 CERKL CFAP418 CFTR CHD4 CHD7 CHD8 CHEK2 CHRNG CIDEC CILK1 CISD2 CLCN2 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CLN3 CLPB CLPP CLRN1 CNBP CNGA1 CNGB1 CNOT1 CNTNAP2 COG2 COL25A1 COL2A1 COL4A5 COL7A1 COMT COQ2 COQ6 CORIN CP CPA1 CPE CPLANE1 CPLX1 CRB1 CREBBP CRLS1 CRX CSPP1 CT55 CTBP1 CTC1 CTDP1 CTLA4 CTNNB1 CTNS CTRC CTSK CUL3 CUL4B CWC27 CYB5A CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 DACT1 DAXX DBH DCAF17 DCC DCHS1 DCLRE1C DDB1 DDB2 DDOST DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHH DHX37 DHX38 DIAPH1 DIAPH2 DICER1 DIO1 DIS3L2 DISP1 DKC1 DLK1 DLL1 DLST DMPK DMRT1 DMRT3 DMXL2 DNAH1 DNAH10 DNAJB11 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAL4 DNASE2 DNHD1 DNM1L DNMT1 DNMT3A DPF2 DPYSL5 DSG1 DUOX2 DUOXA2 DUSP6 DUT DYRK1A DYRK1B ECE1 EDA EDA2R EDN3 EDNRB EFL1 EHMT1 EIF2AK3 EIF2B1 EIF2S3 EIF4H EIF5A ELMO2 ELN ENPP1 ENTPD1 EP300 EPAS1 EPCAM EPG5 EPO ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 ESR1 ESR2 ESS2 EXOSC2 EXT2 EYA1 EYS FAH FAM111A FAM111B FAM161A FAM20A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FAS FASLG FAT4 FBN1 FBXO43 FCGR3B FDX2 FEZF1 FGD1 FGF13 FGF17 FGF8 FGFR1 FGFRL1 FH FIGLA FKBP6 FLCN FLI1 FLII FLNB FLRT3 FLT1 FMR1 FN1 FOCAD FOS FOXA2 FOXC1 FOXC2 FOXD3 FOXE1 FOXG1 FOXH1 FOXI1 FOXL2 FOXP1 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FSCN2 FSHB FSHR FUCA1 FUT8 FUZ FXN G6PC1 G6PC3 GABRA3 GABRD GALK1 GALNT2 GALNT3 GALT GAN GANAB GAS1 GATA1 GATA3 GATA4 GATA6 GATB GATC GBA1 GCGR GCH1 GCK GCM2 GCNA GDF9 GDNF GFM2 GH1 GHR GHRHR GHSR GJA1 GJB2 GJB3 GJB4 GK GLA GLI2 GLI3 GLIS3 GLRX5 GLUD1 GMNN GMPPA GNA11 GNAO1 GNAS GNAS-AS1 GNB1 GNB2 GNE GNRH1 GNRHR GOSR2 GP1BB GPC3 GPC4 GPD2 GPR101 GPR161 GPR35 GRB10 GREM1 GRIA1 GRIN1 GRIN2B GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GYG1 H4C5 H6PD HABP2 HACE1 HADH HADHA HADHB HAMP HBB HDAC4 HDAC8 HEPACAM HERC2 HESX1 HFE HFM1 HGSNAT HID1 HIRA HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA1 HMGA2 HNF1A HNF1B HNF4A HNRNPK HNRNPR HPD HPGD HRAS HS6ST1 HSD11B1 HSD11B2 HSD17B3 HSD17B4 HSD3B2 HSPG2 HTR1A HYLS1 HYMAI IARS1 IARS2 IDH1 IDH2 IDH3A IDH3B IER3IP1 IFIH1 IFNG IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IGF1R IGF2 IGF2BP2 IGFALS IGHG2 IGKC IGSF1 IKBKG IL12A IL12RB1 IL17RD IL18BP IL2RA IL2RG IL6 IL6ST IL7R IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E INPP5K INS INSR IPO8 IQSEC2 IRF4 IRF5 IRS1 IRS2 IRS4 IRX5 ITCH ITGB6 ITPR3 IYD JAG1 JAK1 JMJD1C KANSL1 KARS1 KAT6B KATNIP KCNA1 KCNAB2 KCNE3 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ18 KCNJ2 KCNJ5 KCNJ6 KCNQ1 KCNQ1OT1 KCNQ2 KCNT1 KCTD1 KDM6A KDSR KEAP1 KIAA0586 KIAA0753 KIAA1549 KIF1B KIF21A KISS1 KISS1R KIZ KL KLF1 KLF11 KLHL10 KLHL3 KLHL7 KLLN KMT2A KMT2B KMT2C KMT2D KRAS LARS2 LAS1L LBR LEMD3 LEP LEPR LETM1 LGR4 LHB LHCGR LHX1 LHX3 LHX4 LIFR LIG3 LIG4 LIMK1 LIPA LIPC LIPE LMF1 LMNA LMNB2 LPIN2 LRAT LRBA LRP4 LRP5 LRP6 LSM11 LSS LTBP4 LUZP1 LZTFL1 LZTR1 MAB21L2 MAD1L1 MAD2L2 MADD MAFA MAGED2 MAGEL2 MAK MALT1 MAMLD1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK8IP1 MARS1 MARS2 MAST3 MAX MC2R MC4R MCM10 MCM4 MCM8 MCM9 MCOLN1 MCTP2 MDH2 MDM2 MDM4 MECP2 MED12 MEF2A MEG3 MEIOB MEN1 MERTK METTL27 MGAT2 MGME1 MIA3 MICU1 MID1 MINPP1 MKKS MKRN3 MKS1 MLH1 MLH3 MLXIPL MMEL1 MMP1 MMP14 MMP2 MMP23B MOG MOGS MOV10L1 MPDU1 MPI MRAP MRAS MRE11 MRPS22 MRPS25 MRPS7 MSH2 MSH3 MSH4 MSH5 MSH6 MSL3 MSMO1 MST1 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTNR1B MTTP MYH3 NAA10 NAB2 NAF1 NANOS1 NCF1 NDE1 NDN NDNF NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECTIN1 NEK2 NEK9 NEUROD1 NEUROD2 NEUROG3 NEXMIF NF1 NF2 NFIX NFKB2 NFKBIA NFS1 NHLH2 NHP2 NIN NIPBL NKX2-1 NKX2-5 NKX2-6 NLGN3 NLGN4X NLRP1 NLRP3 NNT NODAL NONO NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHS1 NPM1 NR0B1 NR1H4 NR2E3 NR2F2 NR3C1 NR3C2 NR4A2 NR5A1 NRAS NRL NRTN NSD1 NSD2 NSDHL NSMCE2 NSMCE3 NSMF NSUN2 NTN1 NUAK2 NUBPL NUP107 OCA2 OCRL OFD1 OPA1 ORAI1 OTX2 P4HA2 PALB2 PALLD PAPPA2 PAPSS2 PARN PAX4 PAX8 PCARE PCBD1 PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6D PDE6G PDE8B PDGFB PDGFRB PDHA2 PDPN PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHEX PHF21A PHF6 PHGDH PHKA2 PHKG2 PHOX2A PI4KA PIBF1 PIEZO1 PIGA PIGF PIGP PIGQ PIGT PIK3C2A PIK3CA PIK3R1 PITX2 PKD1 PKD2 PLAA PLAG1 PLAGL1 PLCB1 PLCD1 PLCG2 PLCH1 PLEKHM1 PLIN1 PLVAP PLXND1 PMFBP1 PMM2 PMS1 PMS2 PNKP PNLDC1 PNPLA2 PNPLA6 POC1A POF1B POLA1 POLD1 POLE POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3B POLR3GL POLR3H POLR3K POMC POMGNT1 POR POU1F1 POU2AF1 POU3F4 PPARG PPM1B PPOX PPP1R15B PPP1R3A PPP2R3C PRCD PRDM13 PRDM16 PREPL PRIM1 PRKACA PRKAR1A PRKCD PRKCZ PRLR PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRSS1 PRSS2 PRTN3 PSMB8 PSMC3IP PSMD12 PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH PTH1R PTPN1 PTPN11 PTPN22 PTRH2 PUF60 PUS1 PWAR1 PWRN1 PYGL QRSL1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RABL3 RAC1 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RASA2 RASGRP1 RBM28 RBP3 RCBTB1 RDH12 RECQL4 REEP6 RERE RET RETN REV3L RFC2 RFWD3 RFX6 RGR RHO RIN2 RIT1 RLBP1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF212 RNF216 RNPC3 RNU4ATAC RNU7-1 ROBO1 ROM1 RORC RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPL10 RPL10L RPS20 RRAS RRAS2 RREB1 RRM2B RTEL1 RTL1 SAA1 SAG SALL1 SAMD9 SAMHD1 SARS2 SASH1 SASH3 SBDS SCAPER SCARB2 SCLT1 SCN1A SCN1B SCN2A SCN4A SCNN1A SCNN1B SCNN1G SCP2 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEC24C SECISBP2 SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SEMA4D SERPINA6 SETBP1 SETD2 SGPL1 SH2B1 SHH SHOC1 SHROOM4 SIK1 SIK3 SIL1 SIM1 SIN3A SIX1 SIX2 SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A1 SLC12A3 SLC12A5 SLC16A1 SLC16A2 SLC19A2 SLC25A11 SLC25A13 SLC25A22 SLC25A36 SLC25A4 SLC26A3 SLC26A4 SLC29A3 SLC2A2 SLC30A8 SLC32A1 SLC34A1 SLC34A3 SLC35A2 SLC37A4 SLC39A4 SLC3A1 SLC40A1 SLC4A2 SLC5A2 SLC5A5 SLC6A17 SLC7A14 SLC7A7 SLCO2A1 SLF2 SLX4 SMAD4 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMO SMPD1 SMPD4 SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOCS1 SOHLH1 SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX6 SOX9 SP110 SPAG17 SPATA7 SPEN SPI1 SPIB SPIDR SPINK1 SPOP SPRED2 SPRTN SPRY4 SPTBN1 SQSTM1 SRA1 SRCAP SRD5A2 SRD5A3 SREBF1 SRGAP1 SRP54 SRPX2 SRY STAG2 STAG3 STAR STAT1 STAT3 STAT5B STAT6 STEAP3 STIL STK11 STOX1 STRADA STS STUB1 STX16 STX1A SUFU SUGCT SUN5 SUPT16H SVBP SYCE1 SYCP3 TAC3 TACR3 TAF13 TAF4B TANGO2 TBC1D20 TBC1D24 TBC1D7 TBCE TBCK TBL1X TBL2 TBX1 TBX19 TBX2 TBX3 TCF12 TCF4 TCF7L2 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDO2 TDRD9 TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TF TFAP2A TFE3 TFR2 TG TGFB1 TGFBR2 TGIF1 THOC2 THRA THRB TIAM1 TIMMDC1 TINF2 TKT TLR8 TMCO1 TMEM126B TMEM127 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TNFSF15 TNPO3 TNRC6B TNXB TOGARAM1 TOM1 TONSL TOPORS TP53 TP63 TPO TRAF3IP1 TRAF7 TRAPPC11 TRAPPC9 TREX1 TRH TRHR TRIM32 TRIM8 TRIP13 TRIP4 TRMT10A TRPV6 TSC1 TSC2 TSHB TSHR TTC26 TTC7A TTC8 TTPA TTR TUB TUBA1A TUBB2B TUBB3 TULP1 TWNK TXNRD2 TYMP TYMS UBE2T UBE4B UBR1 UBR7 UCP2 UFD1 USB1 USF3 USH2A USP48 USP7 USP8 USP9X VAMP7 VANGL1 VANGL2 VAX1 VDR VHL VIPAS39 VPS13B VPS33B VPS35L VPS37D VPS4A VSX1 WAS WASHC5 WDPCP WDR11 WDR26 WDR4 WFS1 WIPF1 WNK1 WNK4 WNT3 WNT4 WRAP53 WRN WT1 WWOX XPA XPC XRCC2 XRCC4 YARS2 YIPF5 YRDC YY1 ZBTB20 ZFAT ZFP57 ZFPM2 ZFYVE26 ZIC2 ZMPSTE24 ZMYND15 ZNF148 ZNF408 ZNF423 ZNF513 ZNF526 ZNF668 ZNRF3 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER ARSL BMPR1B GDF5 MRPS28 SRCAP TRPS1 HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET ARSL COL9A1 COL9A2 COL9A3 EIF2AK3 MATN3 TBC1D2B HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND GDF5 IHH NPR3 RAB23 TRPS1 HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES COL25A1 KIF21A LIG3 MATR3 PHOX2A POLG RRM2B TUBA1A TUBB2B TUBB3 TYMP ZFHX4 HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY AHCY ALG12 ALG6 ALG8 B4GALT1 DPAGT1 DPM1 DPM2 F7 GGCX MGAT2 MPI PGM1 PMM2 SERPINC1 SLC37A4 SRD5A3 VKORC1 HP_ABNORMALITY_OF_THE_FALX_CEREBRI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FALX_CEREBRI ABCC6 ATN1 CDON COL11A1 DDR2 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NDE1 NODAL PLCH1 PTCH1 SHH SIX3 SMC1A STAG2 STIL SUFU TDGF1 TGIF1 ZIC2 ZSWIM6 HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA ACTB ADH5 AGPAT2 AKT1 AKT2 ALG9 ALMS1 ANOS1 ANTXR2 APC AR ARHGAP31 ARID1B ARL6 ARVCF ATIC ATM ATR AURKA AXIN1 AXIN2 B3GLCT BARD1 BAX BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BMP15 BMPR1A BMPR1B BNC1 BRAF BRCA1 BRCA2 BRD4 BRIP1 BSCL2 BUB1 BUB1B BUB3 BUD23 C14orf39 CAPN15 CASZ1 CAV1 CAVIN1 CBX2 CCDC141 CCDC28B CCND1 CCNQ CD96 CDC45 CDC6 CDC73 CDH1 CDKN1B CDKN2A CDT1 CEP152 CEP19 CEP290 CEP57 CFAP418 CHD7 CHEK2 CHRM3 CHRNG CIDEC CLEC7A CLIP2 CLPP COL1A1 COL3A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COMT COQ6 CORIN COX7B CPLX1 CTBP1 CTC1 CTCF CTNNB1 CXCR4 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DACT1 DCAF17 DCC DDB1 DHCR24 DHCR7 DHH DHX37 DICER1 DKC1 DLC1 DLL3 DMRT1 DMRT3 DNAJC30 DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 ECEL1 EIF4H ELN EP300 EPCAM ERAL1 ERBB2 ERCC4 ESCO2 ESR1 ESR2 EVC EVC2 EWSR1 F7 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FDXR FEZF1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FIGLA FKBP6 FLCN FLI1 FLRT3 FLT1 FOS FOXE1 FOXF1 FOXL2 FRAS1 FREM1 FREM2 FSHR FZD2 GABRD GAD1 GATA2 GATA3 GATA4 GFRA1 GLI1 GLI3 GMNN GNAS GNB2 GNRH1 GNRHR GP1BB GREB1L GREM1 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HARS2 HCCS HDAC8 HERC2 HES7 HESX1 HFM1 HIRA HNF1A HNF1B HNRNPR HOXA13 HOXD13 HS6ST1 HSD3B2 HSPG2 HYLS1 HYMAI IDH1 IDH2 IFT172 IFT27 IFT74 IFT80 IL10RB IL17F IL17RA IL17RC IL17RD INSR INTU IPO8 IRF6 ISL1 ITGA8 JAK3 JMJD1C KAT6B KCNAB2 KEAP1 KIF14 KIF7 KISS1 KISS1R KLLN KRAS LARS2 LEP LEPR LETM1 LFNG LHB LIG4 LIMK1 LIPE LMNA LMNB2 LONP1 LRP2 LUZP1 LZTFL1 LZTR1 MAD1L1 MAD2L2 MAGEL2 MAMLD1 MAP3K1 MBD4 MCC MCM8 MDM2 MED25 MESP2 METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLH1 MLH3 MLXIPL MMP14 MMP2 MMP23B MNX1 MOGS MRE11 MRPS22 MSH2 MSH3 MSH4 MSH5 MSH6 MSX1 MT-CYB MTM1 MYC MYH3 MYRF NAB2 NBN NCF1 NDN NDNF NDP NDUFB11 NF2 NHLH2 NHP2 NIN NIPBL NOBOX NOP10 NPAP1 NPHP1 NPM1 NR0B1 NR2F2 NR3C1 NR5A1 NRAS NSD2 NSMF NSUN2 NTHL1 NUP107 NXN OCA2 OFD1 OPCML ORC1 ORC4 ORC6 PALB2 PALLD PANX1 PARN PATL2 PAX3 PAX6 PCNT PDE11A PDE4D PDGFRL PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PHKA2 PHKB PHKG2 PI4KA PIGN PIK3CA PIK3R1 PLA2G2A PLAGL1 PLG PLIN1 PMM2 PMS1 PMS2 POC1A POLD1 POLE POLR1B POLR1C POLR1D POLR3H POR PORCN PPARG PPP1R12A PPP2R1A PPP2R3C PRDM16 PRKACA PRKACB PRKAR1A PRKCZ PRKN PRLR PROK2 PROKR2 PSMC3IP PTCH1 PTEN PTPN11 PTPN12 PTPRJ PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RABL3 RAC3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54B RARB RBM8A RECQL4 RELA RERE RET RFC2 RFWD3 RIPK4 RIPPLY2 RNF43 RNU12 ROR2 RPS20 RPS6KA3 RREB1 RSPO1 RSPO2 RTEL1 SALL1 SALL4 SCAPER SCLT1 SDCCAG8 SDHB SDHC SDHD SEC23B SEC24C SEMA3A SEMA3E SEMA4A SETBP1 SETD2 SF3B4 SIM1 SKI SLC25A24 SLC35A2 SLC37A4 SLC6A17 SLX4 SMAD3 SMAD4 SMARCA2 SMARCB1 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX11 SOX3 SOX9 SPECC1L SPEN SPIDR SPINT2 SPRED1 SPRY4 SRC SRD5A2 SRY STAG3 STAT6 STK11 STOX1 STRA6 STX1A TAC3 TACR3 TALDO1 TBC1D20 TBL2 TBX1 TBX15 TBX3 TBX6 TCOF1 TCTN3 TERC TERT TGFBR1 TGFBR2 THOC6 TINF2 TLR2 TMEM270 TNXB TOE1 TP53 TP63 TRAF3IP2 TRAIP TRIM32 TRIP13 TRPV6 TSC1 TSC2 TTC8 TUBB8 TWIST2 TXNDC15 TYMS UBE2T UBE3B UBE4B UBR1 UFD1 USB1 USF3 VAC14 VAMP7 VPS37D WDPCP WDR11 WDR35 WEE2 WNT10A WNT3 WNT4 WNT5A WNT7A WNT7B WNT9B WRAP53 WRN WT1 WWOX XRCC2 ZEB2 ZFPM2 ZFTA ZMYM2 ZPR1 ZSWIM7 HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE CDC42BPB FLNA GNAS HEPHL1 HOXD13 IQCE RIPK4 TCF4 HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE ABCC9 ACVR1 CANT1 EP300 FGFR1 FGFR2 FIG4 HOXA13 NEK1 TTC26 TWIST1 VAC14 VPS35L HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES AARS1 AASS ABCC8 ACE ACTA1 ACTB ACTG1 ADAMTS2 ADAMTS3 ADAMTSL1 ADARB1 ADSL AFF4 AGO2 AGT AGTR1 AHDC1 AIFM1 AKT1 ALDH18A1 ALG1 ALG8 ALG9 ALPL ALX4 AMER1 ANKRD11 ANTXR1 APC2 ARID2 ARVCF ARX ASPA ASXL1 ASXL3 ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX B3GALT6 B3GAT3 B3GLCT B4GALT7 BANF1 BCL11B BICRA BMP1 BMP4 BMPER BPNT2 CAMSAP1 CARS1 CASZ1 CAV1 CBFB CCBE1 CCDC134 CCDC22 CCNQ CDC45 CDC6 CDH11 CDK8 CDKN1C CDT1 CENPE CENPJ CEP120 CEP152 CEP57 CHD4 CHD5 CHST14 CHST3 CHUK CLCN3 CLCN7 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COLEC10 COLEC11 COMT COX5A CREB3L1 CREBBP CRTAP CTCF CTSD CTSK CWC27 CYP26B1 CYP27B1 CYP2R1 DCHS1 DDB1 DDR2 DDX3X DDX6 DIAPH1 DICER1 DLK1 DMP1 DNA2 DNMT3A DONSON DPF2 DPH1 DPH2 DPYSL5 DSE DUOX2 DUOXA2 DVL1 EBP EFEMP2 EFNB1 ELN ENPP1 EP300 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERF ERMARD ESCO2 ETFA ETFB ETFDH EXOC8 EXTL3 FAM111A FAM20C FAT4 FBLN5 FBN1 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FLNA FLNB FOXE1 FOXG1 FREM1 GABRD GCK GH1 GJA1 GJA5 GJA8 GLI3 GLIS3 GMNN GNPAT GNPTAB GORAB GP1BB GPC3 GPC4 GPC6 GPX4 GRB10 GTF2E2 GTF2H5 H19 H3-3B H4C9 HDAC4 HERC1 HESX1 HIRA HNF1B HNRNPK HNRNPU HOXD13 HPGD HRAS HSD17B4 HSPG2 HUWE1 HYMAI IFITM5 IFT122 IFT140 IFT43 IFT52 IGF2 IL11RA IL6ST INPPL1 INS INTU IPO8 IRX5 IYD JMJD1C KANSL1 KAT6A KCNAB2 KCNJ11 KCNQ1 KCNQ1OT1 KDELR2 KDM4B KDM5B KIF1A KIF7 KLF1 KLHL40 KLHL41 KPTN KRAS KRT14 KRT5 LEMD2 LHX1 LHX3 LHX4 LIG4 LMNA LMOD3 LMX1B LRP2 LRP5 LTBP1 LTBP4 LUZP1 MAF MAN2B1 MAP1B MAP3K7 MAPK1 MASP1 MED12 MEG3 MEGF8 MESD MID1 MMP14 MMP2 MMP23B MPDU1 MPLKIP MSX2 MTOR MTX2 MVK MYCN MYH3 NAA10 NARS2 NCAPG2 NDE1 NDUFAF3 NEB NEPRO NFASC NFIA NFIX NKX2-1 NKX2-5 NLRP3 NOTCH2 NOTCH3 NPHP3 NSD1 NSMCE3 NSRP1 NSUN2 NUP188 NUP85 ORC1 ORC4 ORC6 OTUD5 P3H1 P4HB PAM16 PAX8 PCDHGC4 PCGF2 PCNT PDGFRB PDPN PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHEX PIEZO2 PIGA PIGO PIGQ PIGT PLAGL1 PLK4 PLOD2 POGZ POLA1 POLR3A POR POU1F1 PPFIBP1 PPIB PPP1CB PPP1R21 PPP2R1A PPP2R5D PPP3CA PRDM16 PRIM1 PRKCZ PRKG2 PROP1 PSAT1 PTCH1 PTDSS1 PTEN PURA PYCR1 RAB23 RAC3 RBBP8 RBM10 RECQL4 REN RERE RETREG1 RNF113A RNF125 RNU12 RNU4ATAC ROR2 RPS19 RPS6KA3 RREB1 RSPRY1 RTL1 RTTN RUNX2 SC5D SCARF2 SCN9A SCUBE3 SEC23A SEC24C SEC24D SETBP1 SETD1A SETD2 SH2B1 SH3PXD2B SHPK SIX2 SKI SLC12A6 SLC25A19 SLC25A24 SLC26A4 SLC2A10 SLC34A3 SLC35A2 SLC39A8 SLC5A5 SMAD3 SMAD6 SMARCD1 SMC3 SMG9 SMO SNX10 SON SOX9 SP7 SPECC1L SPEN SPTBN1 SRCAP STAT3 STXBP1 TALDO1 TANC2 TAPT1 TARS1 TBC1D24 TBCE TBCK TBX1 TCF12 TCIRG1 TENT5A TG TGFBR1 TGFBR2 THRA TLK2 TMCO1 TMEM216 TNFSF11 TOGARAM1 TPO TRAIP TRPV6 TSHB TSHR TWIST1 UBE4B UBR1 UFD1 USP7 VAC14 VARS1 VDR VPS35L WASHC5 WDR19 WDR35 WNK1 WNT5A WT1 YY1 ZEB2 ZFHX4 ZIC1 ZMPSTE24 ZNF292 ZNF462 ZNF699 ZSWIM6 HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE BIN1 BSCL2 DNM2 GNE HNRNPDL KLHL9 LMNA MTMR14 MYF6 MYH7 RYR1 HP_ABNORMALITY_OF_THE_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOREHEAD AARS1 ABCC8 ABCC9 ABL1 ACAN ACER3 ACOX1 ACP5 ACTB ACTG1 ACTG2 ACTL6B ADA2 ADAM22 ADAMTS3 ADAMTSL1 ADARB1 ADAT3 ADK ADNP ADSL AFF4 AGO1 AGO2 AGPAT2 AGR2 AGRN AIFM1 AIP AKT3 ALDH18A1 ALDH6A1 ALG11 ALG9 ALPL ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANKLE2 ANKRD11 ANKRD17 ANTXR1 AP1G1 AP1S1 AP1S2 AP2M1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARCN1 ARID1A ARID1B ARID2 ARNT2 ARV1 ARX ASH1L ASNS ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATIC ATN1 ATP1A2 ATP1A3 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP7A ATR ATRX B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BAP1 BAZ1B BCL7B BCORL1 BGN BICRA BMP1 BMP2 BMP4 BMPR1A BPNT2 BRAF BRCA1 BRCA2 BRD4 BRIP1 BRPF1 BRWD3 BSCL2 BUB1 BUB1B BUB3 BUD23 C12orf57 C2CD3 CA2 CACNA1A CACNA1B CACNA1C CACNA2D1 CAMK2B CAMK2G CAMKMT CAMSAP1 CAMTA1 CARS1 CASK CASZ1 CAV1 CAVIN1 CBFB CBL CC2D2A CCBE1 CCDC22 CCDC47 CCDC8 CCDC88A CCND2 CCNK CCNQ CDC42 CDC42BPB CDC6 CDH1 CDH11 CDH2 CDK19 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDKN1C CELF2 CENPE CENPJ CEP135 CEP152 CEP290 CEP57 CEP63 CHAT CHD1 CHD2 CHD3 CHD5 CHRNA7 CHST14 CHST3 CIT CITED2 CKAP2L CLCN3 CLCN7 CLIP2 CLP1 CLTC CNKSR2 CNOT1 CNOT3 COASY COG4 COG5 COG7 COL11A1 COL11A2 COL13A1 COL18A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL9A2 COLEC11 COPB2 COX4I1 COX5A COX7B CPLANE1 CPLX1 CPOX CPT2 CREBBP CRIPT CRPPA CRTAP CSGALNACT1 CSPP1 CTBP1 CTCF CTNND1 CTNS CTSD CTSK CTU2 CUL4B CUL7 CUX1 CWC27 CYFIP2 CYP27B1 CYP2R1 D2HGDH DALRD3 DCHS1 DDB1 DDR2 DDX11 DDX59 DDX6 DEAF1 DENND5A DHCR24 DHCR7 DHDDS DHX30 DIAPH1 DICER1 DIS3L2 DLK1 DLL3 DLX3 DLX4 DLX5 DMXL2 DNAJC30 DNM1 DNMT3A DOCK6 DOCK7 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPP9 DPYD DPYSL5 DSE DTYMK DVL1 DVL3 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 EBP EDA EDA2R EDAR EDARADD EED EEF1A2 EFEMP2 EFNB1 EIF2S3 EIF4H EIF5A ELN EMC1 EMC10 EMG1 EP300 EPB41 EPB41L1 EPG5 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERF ERMARD ETFA ETFB ETFDH EXOC2 EXOSC1 EXOSC2 EXOSC5 EXT2 EXTL3 EZH2 FAM111A FAM149B1 FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBLN5 FBN1 FBN2 FBXO11 FBXO28 FBXO31 FGD1 FGF12 FGF13 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKBP14 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FOCAD FOS FOXC1 FOXG1 FOXP1 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 FUCA1 FUT8 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALNT2 GATA1 GATA4 GATA5 GATA6 GATAD2B GCK GDF1 GDF11 GET4 GH1 GHR GJA1 GJA5 GJA8 GJB2 GJB6 GK GLB1 GLE1 GLI3 GMNN GMPPA GNAO1 GNB2 GNE GNPAT GNPTAB GNS GOLGA2 GON7 GPAA1 GPC3 GPC4 GPC6 GPKOW GPR101 GPT2 GRB10 GRIN1 GRIN2D GRM7 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GYPC H1-4 H19 H3-3A H3-3B H4C5 H4C9 HBA1 HBA2 HBB HCN1 HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HECW2 HEPACAM HERC1 HERC2 HES7 HESX1 HIC1 HIVEP2 HK1 HMGA2 HNRNPH1 HNRNPK HNRNPU HOXB1 HOXD13 HRAS HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 HYOU1 IARS2 IDH1 IDUA IER3IP1 IFIH1 IFT122 IFT140 IFT43 IFT52 IFT57 IFT80 IFT81 IGBP1 IGF1 IGF2 IKBKG IL11RA IL2RA IL6ST INPP5E INPPL1 INS INSR INTS1 INTS8 INTU IPO8 IQSEC2 IRX5 ITCH ITGA3 JAG1 JARID2 KANSL1 KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNH1 KCNJ1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNN3 KCNQ1 KCNQ1OT1 KCTD1 KDF1 KDM1A KDM4B KDM5B KDM5C KDM6B KDR KIAA0586 KIAA0753 KIDINS220 KIF11 KIF14 KIF26A KIF7 KIFBP KLF1 KMT2A KMT2B KMT2D KMT2E KMT5B KNL1 KNSTRN KPTN KRAS KREMEN1 KYNU LAGE3 LARGE1 LARP7 LARS1 LBR LEMD2 LEMD3 LETM1 LFNG LGI4 LHX3 LHX4 LIFR LIG4 LIMK1 LMBRD2 LMNB1 LMX1B LRP1 LRP2 LRP4 LRP5 LRPPRC LTBP4 LUZP1 LZTR1 MAB21L1 MAB21L2 MAD1L1 MAD2L2 MADD MAF MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPKAPK5 MAPRE2 MARS2 MBD5 MBTPS1 MBTPS2 MCM7 MCPH1 MDH1 MED12 MED12L MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEN1 MESP2 METTL27 METTL5 MFSD2A MGP MID1 MITF MKRN3 MKS1 MLXIPL MMACHC MMP2 MMP23B MN1 MOCS1 MOCS2 MPDZ MRAS MSX2 MTM1 MTOR MTSS2 MTX2 MYH3 MYO18B MYO9A MYOD1 NAA10 NAA20 NAB2 NALCN NANS NARS1 NARS2 NBAS NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCF1 NDE1 NECAP1 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NFKBIA NGLY1 NHEJ1 NIPA1 NIPA2 NIPBL NKX2-5 NKX2-6 NLRP3 NONO NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP3 NPR2 NRAS NRCAM NSD1 NSD2 NSRP1 NSUN2 NTNG2 NTRK2 NUDT2 NUP107 NUP133 NUP188 NUP37 NUS1 NXN OBSL1 OCLN OCRL ODC1 OFD1 OPHN1 ORAI1 ORC1 OSGEP OTUD5 P4HB P4HTM PACS1 PACS2 PAFAH1B1 PAH PAK1 PAK3 PALB2 PAM16 PARS2 PCDHGC4 PCGF2 PCNT PDCD6IP PDE4D PDE6D PDGFRB PDHA1 PDPN PDX1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PHC1 PHEX PHF8 PHGDH PHIP PIGA PIGB PIGG PIGK PIGL PIGN PIGP PIGQ PIGS PIGT PIGU PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX2 PKDCC PLA2G6 PLAG1 PLCH1 PLK4 PMM2 PNKP PNPLA6 POC1A POGZ POLE POLR1B POLR1C POLR1D POLR2A POLR3A POMT1 POMT2 POR POU1F1 POU4F1 PPARG PPFIBP1 PPM1B PPM1D PPP1CB PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PRDM13 PRDM16 PRDX1 PREPL PRIM1 PRKACB PRKAR1B PRKCZ PRKD1 PRKDC PRMT7 PROP1 PRPS1 PRUNE1 PSAT1 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTHLH PTPN11 PUF60 PUM1 PURA PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QARS1 RAB18 RAB39B RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RALA RALGAPA1 RARS2 RASA2 RBBP8 RBL2 RBM10 RBM8A RECQL4 RELN RERE RFC2 RFWD3 RFX7 RHOBTB2 RIN2 RIPPLY2 RIT1 RLIM RMRP RNF113A RNF125 RNF13 RNF135 RNPC3 RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RRP7A RSPO2 RSPRY1 RTL1 RTTN RUNX2 RYR1 RYR3 SALL4 SARS1 SASS6 SATB1 SATB2 SC5D SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCNM1 SCUBE3 SCYL2 SEC23A SEC24D SEPSECS SERPINH1 SETBP1 SETD1A SETD2 SETD5 SH2B1 SH3PXD2B SHOC2 SHPK SIK1 SIK3 SIM1 SIN3A SIX2 SIX6 SKI SKIC2 SKIC3 SLC12A2 SLC12A6 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC1A3 SLC25A1 SLC25A12 SLC25A19 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC2A1 SLC32A1 SLC34A3 SLC35C1 SLC38A3 SLC39A13 SLC3A1 SLC5A7 SLC6A1 SLC6A8 SLC9A7 SLX4 SMAD2 SMAD3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMO SMOC1 SMPD4 SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX10 SNX14 SON SOS1 SOS2 SOST SOX11 SOX2 SOX4 SOX5 SOX6 SOX9 SP7 SPATA5L1 SPECC1L SPEN SPOP SPRED2 SPRTN SPTA1 SPTB SPTBN1 SRC SRCAP STAG2 STAMBP STAT3 STAT5B STAT6 STEEP1 STIL STIM1 STRADA STT3A STX1A STXBP1 SUFU SUMF1 SUOX SUPT16H SUZ12 SVBP SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TAB2 TAF1 TAF13 TAF6 TAFAZZIN TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBC1D7 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX15 TBX2 TBX4 TCEAL1 TCF12 TCF20 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TENT5A TET3 TFAP2A TFAP2B TGFB1 THOC2 THOC6 THSD1 THUMPD1 TIMM50 TMCO1 TMEM107 TMEM147 TMEM216 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMLHE TNPO2 TOE1 TOGARAM1 TONSL TOPORS TP53RK TP63 TRAF6 TRAK1 TRAPPC10 TRAPPC14 TRAPPC4 TRAPPC9 TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRMT10A TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSPEAR TSR2 TTC26 TTC5 TTC7A TTI2 TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNDC15 UBA2 UBA5 UBE2A UBE2T UBE4B UBR7 UFC1 UGP2 UNC45A UNC80 UPF3B USB1 USP9X VAC14 VAMP1 VARS1 VDR VIPAS39 VPS13B VPS33A VPS33B VPS35L VPS37D VPS53 WAC WARS1 WASHC4 WASHC5 WBP11 WDR19 WDR35 WDR37 WDR4 WDR62 WDR73 WLS WNT4 WNT5A WWOX XRCC2 XRCC4 YWHAE YWHAG YY1 ZBTB18 ZBTB20 ZBTB7A ZC4H2 ZDHHC9 ZEB2 ZFHX4 ZFPM2 ZIC1 ZIC2 ZNF148 ZNF292 ZNF335 ZNF462 ZNF526 ZNF699 ZNF711 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_THE_FOURTH_METATARSAL_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOURTH_METATARSAL_BONE CDC42BPB DCHS1 EZH2 FAT4 HDAC4 HEPHL1 LZTFL1 PEX7 PHYH PIGS PRMT7 RSPRY1 TCF4 ZNF407 HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE ABCC9 ADA2 ADARB1 ADNP AGPAT2 AIFM1 ALG11 ALX1 ALX3 ANKRD11 ANKRD17 APC2 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 BICRA BRCA1 BRD4 BSCL2 CAV1 CAVIN1 CCNK CDC42BPB CDH1 CDK5 CIT CLCN3 COG5 COG7 CPLX1 CPOX CREBBP CTBP1 CWC27 DEAF1 DHX30 DLX4 DOCK6 DOCK7 DPF2 DPH2 DPM2 EFNB1 EMC1 EP300 ERMARD FAT4 FGD1 FGFR2 FGFR3 FKRP FLNA FOS FRAS1 FREM2 FRMD4A GATA1 GDF11 GMPPA GNB2 H1-4 H3-3A H4C5 HDAC8 HEATR3 HS2ST1 HSPG2 HYOU1 IFIH1 IGF1 INSR JARID2 KCNH1 KCNJ8 KCNN3 KDM1A KREMEN1 LETM1 LIG4 LMX1B LRP2 LRPPRC MAB21L1 MAN2B1 MAP3K7 MAPRE2 MED12 MED13L MEGF8 MEIS2 MID1 NANS NBN NELFA NEPRO NIPBL NOTCH2 NOVA2 NSD1 NSD2 NSUN2 NUDT2 PACS1 PEPD PEX1 PEX6 PGAP1 PIGG PIGK PIK3C2A POLR1B POLR1C POLR1D PPARG PPP1CB PPP1R15B PRDM13 PRKD1 RAB18 RAB3GAP2 RAD21 RALGAPA1 RBL2 RERE RHOBTB2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SATB1 SETD2 SETD5 SH2B1 SIN3A SLC12A6 SLC25A24 SLC35C1 SLC9A7 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMPD4 SOS1 SOX11 SOX4 SPATA5L1 SPECC1L SPEN SPOP STAG2 STT3A SVBP SYT1 TAF6 TBC1D20 TBC1D24 TBL1XR1 TBX15 TBX2 TCF12 TCOF1 TECPR2 THOC6 TMCO1 TRIO TRMT10A TRPM3 TSR2 TTC5 TWIST1 TWIST2 UGP2 VPS13B VPS33A WNT4 XRCC4 ZC4H2 ZIC1 ZNF699 HP_ABNORMALITY_OF_THE_GALLBLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GALLBLADDER ABCB11 ABCB4 ABCG8 ACVRL1 AIRE ALAS2 ALDOA AMACR ANK1 ARSA ARVCF ASXL1 ATP8B1 B3GLCT BAZ1B BCL7B BLVRA BUD23 CALR CC2D2A CCDC47 CLIP2 CNOT1 COMT CPLX1 CTBP1 CYP27A1 CYP7A1 DHCR7 DMPK DNAJC30 EIF4H ELN ENG EPB41 EPB42 F5 FECH FKBP6 FOXF1 FUCA1 GATA6 GBA1 GCGR GDF2 GNE GP1BB GPI GPR35 GTF2I GTF2IRD1 GTF2IRD2 GYPC HBB HIRA HK1 HOXD13 IGHG2 IGKC INTU JAK2 JMJD1C KCNN4 KDM5C LETM1 LIMK1 MECP2 MED25 METTL27 MLXIPL MST1 NCF1 NELFA NR1H4 NSD2 PEX19 PFKM PIEZO1 PIGG PKHD1 PKLR PNPLA2 PSAP RFC2 RFX6 RREB1 SC5D SCNN1A SCNN1B SCNN1G SEC23B SEC24C SEMA4D SLC4A1 SMAD4 SMPD1 SON SPTA1 SPTB STK11 STX1A TBL2 TBX1 TCF4 TFE3 TMEM270 TPI1 UFD1 UQCRFS1 UROS VPS37D VPS4A HP_ABNORMALITY_OF_THE_GENITAL_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GENITAL_SYSTEM AAGAB AARS1 AARS2 ABCA4 ABCD1 ABCD4 ABL1 ACTA1 ACTA2 ACTB ACTG2 ACTL9 ADA2 ADAMTS3 ADAR ADARB1 ADAT3 ADGRG2 ADH5 ADNP AEBP1 AFF4 AGA AGBL5 AGGF1 AGK AGPAT2 AHI1 AHR AHSG AIP AIRE AK7 AKAP3 AKR1C2 AKR1C4 AKT1 AKT2 ALDH18A1 ALDH1A2 ALG1 ALG12 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX4 AMACR AMH AMHR2 ANAPC1 ANAPC7 ANGPT2 ANK1 ANKLE2 ANKRD11 ANOS1 ANTXR1 ANTXR2 AP1S2 APC APC2 AR ARCN1 ARHGAP31 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARL6IP6 ARMC2 ARMC5 ARNT2 ARSL ARVCF ARX ASH1L ASTL ASXL3 ATAD3A ATIC ATM ATN1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7B ATPAF1 ATPAF2 ATR ATRX ATXN8OS AURKA AURKC AUTS2 AXIN1 AXIN2 AXL B3GALNT2 B3GLCT B4GALNT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BARD1 BAX BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL10 BCL7B BCOR BCS1L BDNF BEST1 BICC1 BICRA BIN1 BLM BLOC1S3 BLOC1S5 BLTP1 BMP15 BMP2 BMP4 BMP6 BMPR1A BMPR1B BNC1 BPTF BPY2 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRDT BRF1 BRIP1 BRWD3 BSCL2 BTG4 BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C11orf80 C14orf39 C2CD3 C2CD6 C4A CA4 CACNA1G CAMK2A CAMKMT CAMSAP1 CAPN15 CARS1 CASK CASP10 CASZ1 CATIP CATSPER1 CATSPER2 CAV1 CAVIN1 CBL CBX2 CC2D2A CCBE1 CCDC103 CCDC141 CCDC174 CCDC22 CCDC28B CCDC32 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCDC8 CCN2 CCND1 CCNO CCNQ CCR1 CCR6 CD96 CDC14A CDC20 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH1 CDH11 CDH2 CDH23 CDHR1 CDK8 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDT1 CDY1 CDY2A CEACAM3 CEACAM6 CENPT CEP112 CEP120 CEP152 CEP164 CEP19 CEP290 CEP41 CEP57 CERKL CFAP221 CFAP251 CFAP298 CFAP300 CFAP410 CFAP418 CFAP43 CFAP44 CFAP45 CFAP47 CFAP52 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CFTR CHD4 CHD7 CHEK2 CHP1 CHRM3 CHRNA3 CHRNG CHST14 CIDEC CILK1 CISD2 CITED2 CKAP2L CLCA4 CLCN3 CLCN4 CLDN2 CLEC7A CLIC2 CLIP2 CLMP CLP1 CLPP CLRN1 CNBP CNGA1 CNGB1 COG1 COG5 COL14A1 COL1A1 COL25A1 COL3A1 COL4A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COLEC10 COLEC11 COMT COQ2 COQ6 CORIN COX7B CPE CPLANE1 CPLX1 CRB1 CREBBP CRPPA CRX CSPP1 CT55 CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNNB1 CTNS CTU2 CUL4B CUL7 CUX1 CWC27 CXCR4 CYB5A CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DBH DCAF17 DCC DCHS1 DCLRE1C DCTN4 DCX DDB1 DDB2 DDX3X DDX3Y DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHH DHODH DHX37 DHX38 DIAPH1 DIAPH2 DICER1 DIS3L2 DISP1 DKC1 DLC1 DLK1 DLL1 DLL3 DLX4 DMPK DMRT1 DMRT3 DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAJC6 DNAL1 DNAL4 DNALI1 DNHD1 DNM1L DNM2 DNMT3A DOCK8 DOK7 DPAGT1 DPF2 DPH2 DPM1 DPM2 DPP9 DPY19L2 DPYSL5 DRC1 DSE DTNBP1 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1 EBF3 EBP ECE1 ECEL1 EDEM3 EDNRA EED EFNB1 EHMT1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2S3 EIF4H EIF5A ELN EMG1 EP300 EPCAM EPG5 EPHB2 ERAL1 ERAP1 ERBB2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 ESR1 ESR2 ESS2 ETFA ETFB ETFDH EVC EVC2 EWSR1 EXT2 EYS EZH2 F10 F11 F13A1 F13B F2 F5 F7 F8 FAM111A FAM149B1 FAM161A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSB FAS FASLG FAT4 FBLN1 FBN1 FBXL4 FBXO43 FBXW7 FCGR2A FDFT1 FDXR FERMT1 FEZF1 FGA FGB FGD1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FGG FH FIG4 FIGLA FIP1L1 FKBP6 FKRP FKTN FLCN FLG FLI1 FLNA FLNB FLRT3 FLT1 FLT4 FMR1 FOCAD FOS FOXA2 FOXC1 FOXE1 FOXF1 FOXH1 FOXJ1 FOXL2 FRAS1 FREM1 FREM2 FSCN2 FSHB FSHR FSIP2 FTO FUZ FXR1 FZD2 G6PC3 GABRD GAD1 GALC GALK1 GALT GANAB GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD2B GBA1 GBA2 GCLC GCM2 GCNA GDF1 GDF6 GDF9 GFM2 GFRA1 GGN GGPS1 GH1 GHR GJA1 GJA5 GJB2 GJB3 GJB4 GJC2 GK GLE1 GLI1 GLI2 GLI3 GLYCTK GMNN GMPPB GNA11 GNAO1 GNAS GNB2 GNRH1 GNRHR GP1BA GP1BB GP6 GP9 GPC3 GPC4 GPC6 GPR101 GPR161 GRB10 GREB1L GREM1 GRIA2 GRIA3 GRIN1 GRIN2B GRIP1 GRM7 GSC GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY1A1 H1-4 H19 H4C11 H4C5 H4C9 H6PD HAMP HARS2 HBA1 HBA2 HBB HCCS HDAC4 HDAC8 HEATR3 HEPACAM HERC1 HERC2 HES7 HESX1 HEXB HFE HFM1 HGD HGSNAT HHAT HIBCH HID1 HIRA HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HMOX1 HNF1A HNF1B HNRNPH1 HNRNPK HNRNPR HOXA13 HOXD13 HPRT1 HPS4 HPS5 HPSE2 HRAS HS2ST1 HS6ST1 HSD17B3 HSD17B4 HSD3B2 HSF2BP HSFY1 HSPG2 HTRA2 HTT HUWE1 HYDIN HYLS1 HYMAI IDH1 IDH2 IDH3A IDH3B IER3IP1 IFIH1 IFNGR1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT81 IFT88 IGBP1 IGF1 IGF2 IGHG2 IGKC IKZF1 IL10 IL10RB IL12A IL12A-AS1 IL17F IL17RA IL17RC IL17RD IL1RAPL1 IL23R IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INPPL1 INSL3 INSR INTU INVS IPO8 IQCB1 IQCN IRF2BP2 IRF4 IRF5 IRF6 IRX5 ISL1 ITGA2B ITGA8 ITGB3 ITGB6 JAG1 JAK3 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KATNIP KCNA1 KCNAB2 KCNH1 KCNJ6 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KCNU1 KDM1A KDM3B KDM5B KDM5C KDM5D KDM6A KDM6B KDR KDSR KEAP1 KIAA0586 KIAA0753 KIAA1549 KIF14 KIF21A KIF7 KIFBP KISS1 KISS1R KIT KIZ KLF1 KLF6 KLHL10 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KLRC4 KMT2A KMT2C KMT2D KMT2E KMT5B KPNA7 KRAS KRT5 LAMA5 LARGE1 LARP7 LARS2 LAS1L LEP LEPR LETM1 LFNG LGR4 LHB LHCGR LHX1 LHX3 LHX4 LIG3 LIG4 LIMK1 LIPE LMAN1 LMBR1 LMNA LMNB1 LMNB2 LMOD1 LMOD3 LMX1B LONP1 LRAT LRIG2 LRP2 LRPPRC LRRC56 LRRK2 LSM11 LSS LUZP1 LZTFL1 LZTR1 M1AP MAB21L1 MAB21L2 MAD1L1 MAD2L2 MADD MAF MAGEL2 MAK MAMLD1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPRE2 MASP1 MBD4 MBD5 MBTPS2 MC2R MCC MCFD2 MCIDAS MCM3AP MCM5 MCM8 MCM9 MCTP2 MDFIC MDM2 MECOM MECP2 MED11 MED12 MED12L MED13L MED25 MEFV MEG3 MEGF8 MEI1 MEIOB MEN1 MERTK MESP2 METTL23 METTL27 MGME1 MID1 MIF MINPP1 MKKS MKRN3 MKS1 MLH1 MLH3 MLXIPL MMP14 MMP2 MMP23B MNS1 MNX1 MOGS MOS MOV10L1 MPLKIP MRAP MRAS MRE11 MRPS22 MRPS28 MRPS7 MSH2 MSH3 MSH4 MSH5 MSH6 MSTO1 MSX1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTM1 MTMR14 MTOR MUSK MXI1 MYC MYF6 MYH11 MYH3 MYH9 MYL11 MYLK MYMK MYMX MYOD1 MYRF NAA10 NAB2 NABP1 NAF1 NALCN NANOS1 NBEAL2 NBN NCF1 NDN NDNF NDP NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NECTIN1 NEDD4L NEK1 NEK10 NEK2 NELFA NEUROD2 NEXMIF NF1 NF2 NFIB NFIX NHLH2 NHP2 NIN NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NLRP2 NLRP3 NLRP5 NME5 NME8 NNT NOBOX NODAL NONO NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NR0B1 NR2E3 NR2F2 NR3C1 NR5A1 NRAS NRL NSD1 NSD2 NSMF NSUN2 NTHL1 NTN1 NUMA1 NUP107 NUP88 NXN OBSL1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGT OPA1 OPCML OPHN1 ORC1 ORC4 ORC6 OTUD5 OTUD6B OTX2 PACS1 PACS2 PADI6 PAFAH1B1 PAICS PALB2 PALLD PANX1 PAPSS2 PARK7 PARN PATL2 PAX2 PAX3 PAX6 PAX7 PBX1 PCARE PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDGFRL PDHA2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGR PHACTR1 PHF21A PHF6 PHF8 PHGDH PHIP PHKA2 PHKB PHKG2 PHOX2A PI4KA PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGP PIGQ PIGS PIK3C2A PIK3CA PIK3R1 PINK1 PITX2 PKD1 PKD2 PLA2G2A PLAG1 PLAGL1 PLAU PLCZ1 PLG PLIN1 PLVAP PLXND1 PMFBP1 PML PMM2 PMS1 PMS2 PNKP PNLDC1 PNPLA6 POC1A PODXL POF1B POFUT1 POGLUT1 POLA1 POLD1 POLE POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3B POLR3H POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F3 PPARG PPFIBP1 PPM1B PPP1CB PPP1R12A PPP1R15B PPP2R1A PPP2R3C PQBP1 PRCD PRDM13 PRDM16 PREPL PRIM1 PRKACA PRKACB PRKACG PRKAR1A PRKCD PRKCZ PRKDC PRKN PRLR PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRX1 PRTN3 PRY PRY2 PSENEN PSMB8 PSMC1 PSMC3IP PSMD12 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PTPN12 PTPN22 PTPRF PTPRJ PTRH2 PUF60 PWAR1 PWRN1 PYCR1 QRICH2 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RABL3 RAC1 RAC3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54B RAF1 RAPSN RARA RARB RASA2 RASGRP1 RASGRP2 RBBP8 RBM10 RBM28 RBM8A RBMX RBMY1A1 RBP3 RCBTB1 RDH12 REC114 RECQL4 REEP6 RELA RERE RET REV3L RFC2 RFWD3 RFX7 RGR RHO RIN2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNASEL RNF113A RNF135 RNF212 RNF216 RNF43 RNU12 RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL10L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS4Y2 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RTEL1 RTL1 RTN2 RTTN RXYLT1 RYR1 SACS SAG SALL1 SALL4 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCLT1 SCN1B SCN2A SCP2 SCUBE3 SCYL2 SDCCAG8 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEMA3A SEMA3E SEMA4A SEPTIN12 SERPINA1 SERPINE1 SETBP1 SETD1A SETD2 SETD5 SF3B4 SGPL1 SHH SHOC1 SHOC2 SIAH1 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SKIC3 SLC11A1 SLC16A2 SLC18A3 SLC19A2 SLC25A10 SLC25A13 SLC25A22 SLC25A24 SLC26A2 SLC26A8 SLC26A9 SLC29A3 SLC2A3 SLC31A1 SLC32A1 SLC34A2 SLC35A2 SLC35D1 SLC37A4 SLC39A4 SLC3A1 SLC40A1 SLC6A14 SLC6A17 SLC7A14 SLC9A3 SLFN14 SLX4 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMOC1 SMS SNAP29 SNCA SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOS1 SOS2 SOST SOX10 SOX11 SOX18 SOX2 SOX3 SOX4 SOX5 SOX9 SPAG1 SPAG17 SPATA16 SPATA7 SPECC1L SPEF2 SPEN SPIDR SPINK2 SPINT2 SPRED1 SPRED2 SPRTN SPRY4 SPTBN1 SQSTM1 SRA1 SRC SRCAP SRD5A2 SRY SSR4 SSX1 STAC3 STAG1 STAG3 STAR STAT3 STAT4 STAT5B STAT6 STEAP3 STK11 STK36 STOX1 STRA6 STRC STS STT3A STT3B STUB1 STX1A STXBP1 SUCLG1 SUFU SUN5 SUZ12 SYCE1 SYCP2 SYCP3 SYNE1 SYNGAP1 SYNJ1 TAC3 TACR3 TAF4B TAF6 TALDO1 TAPT1 TARS1 TASP1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBL1X TBL1XR1 TBL2 TBX1 TBX15 TBX22 TBX3 TBX4 TBX6 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDRD9 TEKT3 TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TFAP2A TFR2 TGDS TGFB1 TGFBR1 TGFBR2 TGIF1 THOC2 THOC6 THSD1 TIAM1 TINF2 TKT TLE6 TLR2 TLR4 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM63A TMEM67 TMEM70 TMEM94 TNFAIP3 TNFRSF1A TNRC6B TNXB TOE1 TOGARAM1 TONSL TOPORS TP53 TP63 TPM2 TPR TRAF3IP1 TRAF3IP2 TRAF7 TRAIP TRANK1 TREX1 TRIM32 TRIM8 TRIP13 TRIP4 TRMT10A TRPM3 TRPV6 TRRAP TSC1 TSC2 TSGA10 TSHB TSPY1 TSPYL1 TSR2 TTC12 TTC21A TTC29 TTC5 TTC8 TTI2 TTR TUB TUBA1A TUBB TUBB2B TUBB3 TUBB8 TULP1 TWIST1 TWIST2 TWNK TXNDC15 TXNRD2 TYMP TYMS UBA1 UBAC2 UBAP1 UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UCHL1 UFD1 UNG UPB1 UPF3B UQCC2 USB1 USF3 USH2A USP26 USP48 USP7 USP8 USP9X USP9Y VAC14 VAMP7 VANGL1 VCY VEGFC VHL VPS13B VPS13C VPS35L VPS37D VPS4A VPS50 VWF WAS WASHC5 WDPCP WDR11 WDR19 WDR35 WDR37 WDR62 WEE2 WFS1 WIPF1 WNT10A WNT3 WNT4 WNT5A WNT7A WNT7B WNT9B WRAP53 WRN WT1 WWOX XKRY XPA XPC XRCC2 XRCC4 XYLT2 YARS1 YWHAE YY1 ZBTB16 ZBTB20 ZDHHC9 ZEB2 ZFHX3 ZFHX4 ZFP36L2 ZFPM2 ZFTA ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND15 ZNF408 ZNF513 ZNF699 ZNRF3 ZP1 ZP2 ZP3 ZPBP ZPR1 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_THE_GINGIVA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GINGIVA ABCA5 ABCC9 ADAMTS2 ADAMTS3 AEBP1 AFF3 AGA AIMP2 ALMS1 ANTXR2 AP3B1 ASXL3 ATG7 ATP6V1B2 B4GALT7 BAZ1B BCL7B BCOR BGN BLOC1S3 BLOC1S5 BUD23 C1R C1S CAT CCBE1 CD40LG CD96 CDKN1A CDKN1B CDKN2B CDKN2C CLIP2 CLPB CLTRN CNTNAP1 COL3A1 CTC1 CTSC CXCR4 CYBA CYBB CYBC1 DDR2 DHCR24 DHCR7 DKC1 DNAJC30 DNM1 DSP DVL1 DVL3 ECM1 EIF4H ELANE ELMO2 ELN ELOVL4 EMC1 EXTL3 F10 F13A1 F13B F2 F5 F7 F8 FAM20A FAM20C FAT4 FBXO28 FCGR2C FERMT1 FGA FGB FGF3 FGFR2 FGG FIG4 FIP1L1 FKBP6 FZD2 GBA1 GFI1 GJB2 GJB6 GLB1 GNAQ GNPTAB GORAB GP1BA GP1BB GP9 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GUSB HIVEP2 HPS1 HPS3 HYLS1 HYMAI IDS IDUA IER3IP1 IFNG IL18BP IL6ST INSR IRF2BP2 IRF9 ITGA2B ITGB2 ITGB3 JAK2 KCNH1 KCNJ6 KCNK4 KCNMA1 KCNN3 KIF1A KIF23 KIF7 KRT6A LBR LIMK1 LMAN1 LMNB1 LYST MAN2B1 MAP1B MBTPS2 MCFD2 MEN1 METTL27 MGAT2 MIA3 MLXIPL MMP14 MMP2 MPL MYD88 MYSM1 NABP1 NCF1 NCF2 NCF4 NEU1 NFIX NGF NHP2 NOP10 NOTCH2 NOTCH3 NPM1 NTRK1 NUMA1 NXN OCRL OSTM1 PARN PDGFRB PERP PIGA PIGN PIGS PLAGL1 PLEKHM1 PLG PML PRF1 PRKAR1A PRMT7 RACGAP1 RALGAPA1 RARA REST RFC2 RIN2 RMRP ROR2 RTEL1 SAMD9 SATB2 SBDS SC5D SCARB2 SERPINF2 SETBP1 SH3PXD2B SLC17A5 SLC29A3 SLC35C1 SLC37A4 SLC6A19 SMAD4 SOS1 SRP19 SRP54 STAT3 STAT5B STX1A TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TCIRG1 TCTN3 TERC TERT TET2 TINF2 TMCO1 TMEM270 TRIM8 TRPV3 TSC1 TSC2 TWIST2 TYMS USB1 USP9X VAC14 VPS13B VPS37D WAS WDR26 WIPF1 WNT5A WRAP53 ZBTB16 ZEB2 ZNHIT3 HP_ABNORMALITY_OF_THE_GLABELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLABELLA ALX1 ASXL2 BICRA CPLX1 CTBP1 DLK1 DPM1 FBN1 FGFRL1 H4C5 INTS8 LETM1 LMBRD2 MEG3 NBAS NF1 NSD2 PUS7 RSPO2 RTL1 SPOP SPTBN1 TASP1 TMEM53 TP53RK ZSWIM6 HP_ABNORMALITY_OF_THE_GLENOID_FOSSA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLENOID_FOSSA DLK1 DYM LMX1B LYSET MEG3 ORC1 RTL1 SCARF2 HP_ABNORMALITY_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HAND AAAS AAGAB ABCA12 ABCA3 ABCC6 ABCC8 ABCC9 ABCD1 ABL1 ACAN ACOX1 ACP5 ACSL4 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTL6B ACTN2 ACVR1 ACVRL1 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAT3 ADGRG6 ADH5 ADNP AEBP1 AFF2 AFF3 AFF4 AGO2 AGPAT2 AGRN AHI1 AHSG AIFM1 AIP AK9 AKT1 AKT3 ALDH18A1 ALDH1A2 ALDH6A1 ALG12 ALG13 ALG14 ALG3 ALG6 ALG9 ALMS1 ALOX12B ALOXE3 ALS2 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC1 ANKLE2 ANKRD1 ANKRD11 ANKRD55 ANO5 ANTXR2 AP1B1 AP1G1 AP4M1 APC APC2 AQP5 ARCN1 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARPC4 ARSB ARSL ARVCF ARX ASAH1 ASNS ASPH ASPN ASXL1 ASXL2 ASXL3 ATAD1 ATG7 ATL1 ATL3 ATN1 ATP11A ATP13A2 ATP2A2 ATP2B1 ATP6V0A2 ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BAG3 BAG5 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCORL1 BCR BGN BHLHA9 BICD2 BICRA BIN1 BLM BLTP1 BMP1 BMP15 BMP2 BMP4 BMP6 BMPR1A BMPR1B BNC1 BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BTRC BUB1 BUB1B BUB3 BUD23 C1R C2CD3 CACNA2D1 CADM3 CAMK2G CAMTA1 CANT1 CAP2 CAPN3 CARD14 CASK CAST CASZ1 CAV1 CAV3 CAVIN1 CBFB CBL CBS CBY1 CC2D2A CCBE1 CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCDC88A CCN2 CCN6 CCND2 CCNK CCNQ CCR6 CD244 CD247 CD28 CD4 CD55 CD96 CDC42 CDC42BPB CDC45 CDC6 CDH11 CDH3 CDK10 CDK19 CDK5 CDKL5 CDKN1C CDSN CDT1 CENPE CENPJ CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CERS3 CFAP418 CFTR CHCHD10 CHD1 CHD4 CHD7 CHN1 CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CHSY1 CHUK CIB1 CIBAR1 CIC CIITA CILK1 CITED2 CKAP2L CLCF1 CLCN3 CLCN7 CLIC2 CLIP2 CLP1 CNOT1 CNOT2 CNOT3 CNTN1 CNTNAP1 COASY COG1 COG4 COG5 COG6 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL17A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLQ COMP COMT COPB1 COX14 COX4I1 COX7B CPLANE1 CPLX1 CPT2 CREBBP CRIPT CRKL CRLF1 CRPPA CRYAB CSGALNACT1 CSNK2A1 CSPP1 CSRP3 CST6 CSTA CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNNB1 CTNND2 CTSB CTSC CTSD CTSK CTU2 CUL3 CUL4B CUL7 CWC27 CWF19L1 CYP26B1 CYP27A1 CYP4F22 DACT1 DCHS1 DCTN1 DDR2 DDX11 DDX59 DDX6 DEAF1 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHODH DHPS DHX30 DIS3L2 DKC1 DLG4 DLK1 DLL3 DLL4 DLX3 DLX4 DLX5 DLX6 DMD DMXL2 DNA2 DNAJC21 DNAJC30 DNM1L DNMT3A DOCK3 DOCK6 DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPP9 DPYD DPYS DPYSL5 DSC2 DSE DSG1 DSG2 DSP DST DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DYSF EBF3 EBP ECE1 ECEL1 EDA EDA2R EDN3 EDNRB EED EFEMP2 EFL1 EFNB1 EFTUD2 EGR2 EHMT1 EIF2AK3 EIF2AK4 EIF2S3 EIF4A3 EIF4H ELN EMC1 EMG1 EMILIN1 EN1 ENPP1 EOGT EP300 EPB41L1 EPS15L1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 EVC EVC2 EXOC6B EXOSC2 EXOSC5 EXOSC9 EXT1 EXT2 EXTL3 EZH2 FAM13A FAM149B1 FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FAT4 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXO11 FBXO28 FBXO38 FBXW11 FBXW4 FCGR2A FERMT1 FGD1 FGD4 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FHL2 FIBP FIG4 FKBP6 FKTN FLG FLI1 FLII FLNA FLNB FLNC FLT4 FLVCR1 FMR1 FN1 FOS FOXE3 FOXP1 FOXP2 FRA10AC1 FRAS1 FSHR FTO FTSJ1 FXN FZD2 G6PC3 GABBR2 GABRA3 GABRD GALNS GALNT2 GAN GARS1 GATA1 GATA2 GATA4 GATA5 GATA6 GATAD1 GATAD2B GBF1 GDAP1 GDF1 GDF5 GDNF GGCX GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLYCTK GMNN GMPPA GNAI1 GNAO1 GNAS GNAS-AS1 GNB1 GNB2 GNE GNPTAB GNPTG GNS GON7 GORAB GP1BB GPC3 GPC4 GPKOW GPR101 GPR35 GPX4 GRB10 GRHL2 GRIK2 GRIN1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GYG1 H19 H3-3A H3-3B H4C3 H4C5 H4C9 HACD1 HAND2 HARS1 HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HEPACAM HERC1 HERC2 HES7 HESX1 HEY2 HFE HHAT HIC1 HINT1 HIRA HIVEP2 HK1 HLA-DRB1 HMGA2 HNRNPA1 HNRNPDL HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HPGD HRAS HS2ST1 HSD17B4 HSPB1 HSPB3 HSPG2 HTT HUWE1 HYAL1 HYLS1 HYOU1 IARS1 IARS2 IDH1 IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGF1 IGF1R IGF2 IGHMBP2 IHH IKBKG IL10 IL11RA IL21 IL2RA IL2RB IL6ST INF2 INPP5E INPP5K INPPL1 INSR INTU IPO8 IQCE IQSEC2 IRF5 IRF6 IRX5 ITCH ITGA7 ITGB4 ITGB6 ITPR3 IVNS1ABP JAG1 JARID2 JMJD1C JPH1 JPH2 JUP KANK2 KANSL1 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KDR KDSR KIAA0319L KIAA0586 KIAA0753 KIAA0825 KIDINS220 KIF15 KIF1A KIF21A KIF22 KIF5A KIF5C KIF7 KIFBP KIT KL KLF13 KLHL15 KLHL24 KLHL40 KLHL41 KLHL9 KLLN KMT2A KMT2B KMT2C KMT2D KMT2E KNSTRN KPTN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 L1CAM LAGE3 LAMA3 LAMA4 LAMA5 LAMB2 LAMB3 LAMC2 LARGE1 LARS1 LAS1L LBR LDB3 LEMD3 LETM1 LFNG LHX3 LHX4 LIFR LIG3 LIG4 LIMK1 LMBR1 LMNA LMNB2 LMOD2 LMOD3 LMX1B LONP1 LORICRIN LOX LRBA LRP4 LRP5 LSS LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MAPT MARS1 MASP1 MAT2A MATN3 MATR3 MB MBD5 MBTPS1 MBTPS2 MCM3AP MCOLN1 MCTP2 MECOM MECP2 MED12 MED12L MED13L MED25 MEF2C MEFV MEG3 MEGF10 MEGF8 MEIS2 MEN1 MESP2 MET METTL27 MFAP5 MFN2 MGAT2 MGP MIA3 MIR140 MIR17HG MITF MKKS MKRN3 MKS1 MLXIPL MMP1 MMP14 MMP2 MMP23B MOGS MORC2 MPV17 MPZ MRAS MRPS22 MRPS28 MSH4 MSL3 MST1 MSX2 MT-TS1 MTFMT MTHFS MTM1 MTOR MTX2 MUC5B MUSK MYBPC1 MYBPC3 MYCN MYH11 MYH3 MYH6 MYH7 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYOD1 MYPN MYSM1 NAA10 NAA20 NALCN NANS NARS1 NARS2 NBAS NCF1 NCKAP1L NDE1 NDN NDRG1 NDUFB11 NEB NECTIN1 NECTIN4 NEDD4L NEFL NEK1 NEK9 NELFA NEPRO NEUROD2 NEXMIF NEXN NF1 NFASC NFIX NFKBIL1 NGLY1 NHP2 NHS NIN NIPAL4 NIPBL NKAP NKX2-5 NKX2-6 NKX3-2 NLRP1 NLRP3 NOD2 NOG NONO NOP10 NOTCH1 NOTCH2 NPAP1 NPHP1 NPM1 NPR2 NPR3 NR2F1 NR5A1 NRAS NRTN NSD1 NSD2 NSDHL NSUN2 NTNG1 NTRK1 NUP107 NUP133 NUP188 NUP37 NUP85 NUP88 NXN OBSL1 OCA2 OCRL ODC1 OFD1 OGT OPA3 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B P3H1 P4HTM PACS1 PACS2 PAFAH1B1 PAH PAICS PAK3 PALB2 PAPPA2 PARN PAX1 PAX3 PCDHGC4 PCGF2 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDHA1 PDK3 PDPN PDXK PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM2L1 PHF21A PHF6 PHF8 PHGDH PHIP PHOX2A PHYH PI4KA PIBF1 PIEZO2 PIGA PIGB PIGF PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PKDCC PKP1 PLAA PLAG1 PLEC PLEKHG5 PLK4 PLN PLOD1 PLOD3 PLXND1 PMM2 PMP22 PNKP PNPLA1 PNPLA2 PNPLA6 POC1A POFUT1 POGLUT1 POGZ POLA1 POLG POLR3A POLR3GL POLR3H POLRMT POMP POR PORCN POU1F1 PPARG PPCS PPM1D PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP3CA PQBP1 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKD1 PRKDC PRKG1 PRKG2 PRMT7 PROKR2 PROP1 PRR12 PRX PSEN1 PSEN2 PSENEN PSMB4 PSMB8 PSMB9 PSMC3IP PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN2 PTPN22 PTPRF PTRH2 PUF60 PUM1 PWAR1 PWRN1 PYCR2 PYROXD1 QRICH1 RAB11B RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RASGRP1 RB1 RBBP8 RBM10 RBM20 RBM28 RBM8A RBPJ RECQL RECQL4 REEP1 RELN RERE RET RETREG1 REV3L RFC2 RFT1 RFWD3 RFX7 RHBDF2 RIGI RIN2 RIPK4 RIPPLY2 RIT1 RLIM RMRP RNF13 RNF2 RNF216 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPO1 RSPO2 RSPRY1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SACS SALL1 SALL4 SAMD9 SASH1 SATB1 SATB2 SBDS SBF2 SC5D SCAPER SCARF2 SCLT1 SCN1B SCN2A SCN4A SCN5A SCN9A SCNM1 SCUBE3 SCYL2 SDCCAG8 SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SELENON SEM1 SEMA3C SEMA3D SEMA3E SEMA4D SEMA5A SEPSECS SERPINA12 SERPINB7 SET SETBP1 SETD1B SETD2 SETD5 SF3B2 SF3B4 SFTPA1 SFTPA2 SFTPC SGCD SH2B1 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SHOX SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SKI SLC10A7 SLC12A6 SLC18A3 SLC22A4 SLC25A12 SLC25A21 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC32A1 SLC34A2 SLC35A2 SLC35A3 SLC35B2 SLC35C1 SLC35D1 SLC39A13 SLC52A2 SLC52A3 SLC5A6 SLC6A17 SLC6A9 SLC9A6 SLC9A7 SLCO2A1 SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG9 SMO SMOC1 SMPD4 SMS SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOS1 SOS2 SOST SOX11 SOX18 SOX4 SOX5 SOX6 SOX9 SP7 SPARC SPART SPECC1L SPEG SPEN SPG11 SPIDR SPOP SPRED1 SPRED2 SPRTN SPTBN1 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A3 SREBF1 SRP54 SRY STAG1 STAG2 STAMBP STAT4 STIM1 STK11 STN1 STS STUB1 STX16 STX1A STXBP1 SUFU SULT2B1 SUMF1 SUPT16H SUZ12 SVBP SVIL SYNE1 TAF1A TAF6 TAFAZZIN TAPT1 TASP1 TAT TBC1D24 TBC1D2B TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX5 TCAP TCF12 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TDO2 TELO2 TERC TERT TFAP2A TFAP2B TFE3 TFG TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGM1 TGM5 THOC2 THSD4 TIA1 TIMM8A TINF2 TK2 TLK2 TLL1 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM70 TMEM94 TMPO TNFRSF1B TNNC1 TNNI2 TNNI3 TNNT2 TNNT3 TOE1 TOGARAM1 TONSL TOPORS TOR1A TOR1AIP1 TP53RK TP63 TPM1 TPM2 TPM3 TPR TPRKB TRAIP TRAPPC11 TRAPPC2 TRAPPC9 TREX1 TRIM2 TRIM32 TRIM37 TRIM8 TRIO TRIP11 TRIP13 TRMT10A TRPM3 TRPM4 TRPS1 TRPV3 TRPV4 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSR2 TTC21B TTC26 TTC8 TTN TUBA1A TUBB TUBB2B TUBB3 TWIST1 TWIST2 TXNDC15 TXNRD2 TYMP TYMS TYROBP UBA1 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UFSP2 UNC80 UPF3B UROS USB1 USF3 USP7 USP9X VAC14 VCL VCP VEZF1 VPS13B VPS33A VPS33B VPS35L VPS37D VPS51 WAC WASF1 WASHC5 WDPCP WDR11 WDR19 WDR35 WDR37 WDR4 WDR73 WDR81 WFS1 WIPI2 WLS WNK1 WNT10A WNT10B WNT5A WNT7A WRAP53 WRN WWOX XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YRDC YWHAE YY1 YY1AP1 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC1 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF141 ZNF292 ZNF407 ZNF423 ZNF462 ZNF469 ZNF668 ZNF699 ZNHIT3 ZSWIM7 HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE ABCD3 ACTG2 ACVRL1 ADA2 ALMS1 ARHGAP31 ASXL1 BMP6 BTNL2 CALR CBL CC2D2A CLDN1 CORIN CTNNB1 DCDC2 DGUOK DLL4 DOCK6 DZIP1L ELN ENG EOGT F5 FARSB FLT1 GBE1 GDF2 GIMAP5 GLIS3 GNB2 GPR35 HFE HLA-DRB1 IL12A IL12RB1 INPP5E IRF5 ITCH JAK2 KCNN4 KIF12 KIF20A KRIT1 LIPA MED12 MET MLXIPL MMEL1 MPI MPL MST1 NAF1 NEUROG3 NOTCH1 NPHP3 PIEZO1 PIGM PKHD1 POU2AF1 PRIM1 RBPJ RECQL4 RNU7-1 RPGRIP1L RUNX1 SEMA4D SERPINC1 SHPK SLC30A10 SLC4A1 SMAD4 SOX10 SP110 SPIB SRSF2 STN1 STOX1 TCF4 TET2 TJP2 TMEM67 TNFSF15 TNPO3 TREX1 TTC26 TULP3 UBR1 ZFYVE19 HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT AFF3 ARID1B ASXL1 ATR B3GALT6 B3GAT3 B4GALT7 BMP1 CD96 CDC45 CHRNG CHST3 CLCN3 COL1A1 COL27A1 COL5A1 COL5A2 CREBBP CYP26B1 DONSON DVL1 EP300 ERCC1 EXOC6B EXTL3 FGF9 FGFR1 FGFR2 FLNA FZD2 GDF5 GPC6 GSC IFITM5 KIF22 L1CAM LMX1B MAP3K7 NIPBL NOG NOTCH2 POR PRKAR1A PTDSS1 RNU4ATAC ROR2 SCARF2 SHOX SKI SLC39A13 SOX9 SRCAP TBX15 WNT5A WNT7A HP_ABNORMALITY_OF_THE_HUMERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERUS AGPS ALG12 ATP7A B3GALT6 BMP1 COL2A1 CREB3L1 CYP26B1 DONSON DYM ESCO2 EZH2 FANCB FGF9 FGFR1 FGFR2 FLNA FLNB FZD2 GDF5 GNAS GNPAT GNPTAB GPC6 GSC IFT122 IHH KIAA0753 LAMA5 LBR LMBR1 LONP1 LYSET MACROH2A1 MTHFS MYSM1 NOG PEX5 PITX1 POLR3A POR PRKG2 PTDSS1 RBM8A RECQL4 RNU4ATAC RSPO2 SALL4 SHOX SLC26A2 SNRPB SPARC SRCAP STX16 SUCLG1 TBX15 TBX3 TBX5 TGDS TGFB1 TNFRSF11B TONSL TRPV4 WNT7A ZIC3 HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS AAAS ABCD1 ACP5 ADAT3 ADGRG1 ADNP AFF4 AHI1 AIP AKT1 ALG5 ALG9 ALMS1 ALX3 ANK1 ANOS1 APC APOA5 AR ARL13B ARL3 ARMC5 ARMC9 ARNT2 ATRX B3GLCT B9D1 B9D2 BAP1 BICC1 BMP15 BMP4 BMPR1A BMPR1B BNC1 BPTF BRAF BRCA1 BRCA2 BRCC3 BRIP1 BTK C14orf39 CATIP CBX2 CBY1 CC2D2A CCDC141 CCDC34 CDC42BPB CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEP104 CEP120 CEP290 CEP41 CEP57 CFTR CHD7 CLPP CNBP COG2 COQ6 CPLANE1 CSPP1 CT55 CTLA4 CTNNB1 CTSK CYB5A CYP11A1 CYP17A1 DBH DCAF17 DCC DHH DHX37 DIAPH2 DISP1 DLL1 DMRT3 DMXL2 DNAH10 DNAJB11 DNAJC21 DNHD1 DUSP6 DYRK1A EDA EDA2R EFL1 EIF2S3 EPCAM ERCC4 ERCC6 ERF ESCO2 ESR1 ESR2 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FBXO43 FEZF1 FGD1 FGF17 FGF8 FGFR1 FIGLA FKBP6 FLNB FLRT3 FMR1 FOXA2 FOXC1 FOXH1 FOXL2 FSHB FSHR GAN GANAB GAS1 GATA4 GATA6 GCNA GDF9 GH1 GHRHR GHSR GLI2 GLI3 GMNN GMPPA GNAS GNB2 GPR101 GPR161 GRB10 GRM7 HBB HERC2 HESX1 HFM1 HID1 HLA-DPA1 HLA-DPB1 HPGD HS6ST1 HSD17B4 HSD3B2 HYLS1 IARS2 IDH1 IDH2 IFNG IFT140 IFT74 IGF1 IGF2 IGSF1 IKBKG IL17RD INPP5E KANSL1 KATNIP KCNJ11 KIAA0586 KIAA0753 KISS1R KLHL10 KMT2A KRAS LARS2 LEP LEPR LHB LHCGR LHX3 LHX4 LZTR1 MAD2L2 MADD MAGEL2 MAP2K2 MAP3K1 MAST3 MCM4 MCM8 MCM9 MED12 MEIOB MEN1 MKRN3 MKS1 MLH1 MLH3 MOV10L1 MPDU1 MRPS22 MSH2 MSH4 MSH5 MSH6 MSTO1 MT-ATP8 MT-TL1 MTHFR NANOS1 NDE1 NDN NDNF NF2 NFKB2 NFKBIA NKX2-1 NODAL NONO NPAP1 NPHP1 NR0B1 NR3C1 NR5A1 NSMCE2 NUP107 OCA2 OFD1 OTX2 PALB2 PCSK1 PDE11A PDE6D PDGFB PDHA2 PI4KA PIBF1 PIK3CA PITX2 PKD1 PKD2 PLCH1 PMM2 PMS1 PMS2 PNLDC1 PNPLA6 POLA1 POLE POLR3A POLR3GL POLR3H POMC POR POU1F1 POU3F4 PPP2R3C PREPL PRKAR1A PRLR PROK2 PROKR2 PROP1 PRTN3 PSMC3IP PSMD12 PTCH1 PTDSS1 PTPN22 PUF60 PUS1 PWAR1 PWRN1 RAD51 RAD51C RBM28 RFWD3 RNF113A RNF212 RNF216 RNPC3 ROBO1 RPGRIP1L RPL10L RPS20 RRAS2 RRM2B SBDS SEMA3A SEMA3E SEMA4A SHH SHOC1 SIM1 SIN3A SIX3 SIX6 SLC29A3 SLC7A7 SLCO2A1 SLX4 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX11 SOX2 SOX3 SOX9 SPAG17 SPIDR SPRY4 SRD5A3 SRP54 SRPX2 SRY STAG2 STAG3 STAT5B STEAP3 STIL STX16 SUFU SYCE1 SYCP3 TACR3 TAF4B TBCE TBCK TBX19 TBX2 TBX3 TCTN1 TCTN2 TCTN3 TDGF1 TDRD9 TERB1 TERB2 TERT TEX11 TEX14 TEX15 TGFBR2 TGIF1 THOC2 TMCO1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TP53 TP63 TRAF7 TRAPPC11 TRH TRHR TSC1 TSC2 TSHB TTC26 UBE2T USP48 USP8 VAMP7 VANGL2 VPS13B VSX1 WASHC5 WDR11 WDR4 WT1 WWOX XRCC2 YY1 ZFPM2 ZIC2 ZMYND15 ZNF148 ZNF423 ZNRF3 ZSWIM6 ZSWIM7 HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE AAAS EIF4A3 FGD4 GMPPA RPL11 TRAPPC11 HP_ABNORMALITY_OF_THE_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INCISOR ABCC9 ALX3 ANKRD11 ARHGAP29 ARHGEF38 ATP6V1B2 ATR ATRX AXIN2 B3GLCT BCOR BLM BMP4 BRF1 CACNA1I CCBE1 CDC42BPB CDH1 CDH11 CDON CHSY1 CKAP2L CNOT1 COBLL1 COL11A1 CREBBP CTCF DISP1 DLG1 DLL1 DLX3 DLX4 DNMT3A DOCK7 DPH2 DYNC2LI1 EDA EDARADD EIF4A3 EP300 ERCC3 EVC EVC2 FARS2 FGF3 FGF8 FGFR1 FGFR2 FOXH1 FREM1 GAS1 GATAD2B GJA1 GLI1 GLI2 GRIA3 HMGB3 HRAS IKBKG IRF6 KAT6A KCNK9 KCNMA1 LRP6 MID1 MSX1 NAA10 NECTIN1 NEK1 NHS NODAL PACS2 PAX9 PDGFRA PLCH1 PRKACA PRKACB PTCH1 PURA RIC1 RIPK4 RNF2 SCUBE3 SHH SIX3 SMAD2 SMC1A ST14 STAG1 STAG2 STIL SUFU SUMO1 TBC1D24 TBC1D2B TDGF1 TGFA TGIF1 TP63 TUBGCP2 VPS13B WNT10A WNT10B ZIC2 HP_ABNORMALITY_OF_THE_INNER_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INNER_EAR ABCC1 ADGRV1 AIFM1 AKT1 ARSG CBL CCDC50 CCND1 CDH23 CEP78 CHD7 CHN1 CIB2 CLRN1 COCH COL4A6 COQ6 DDX11 ERF ESPN ESRP1 EYA1 FGF3 FGFR2 FGFR3 FOXI1 FOXP2 GJB2 GJB6 GREB1L HAAO HARS1 HRAS KARS1 KCNJ10 KRAS LZTR1 MAFB MAP3K7 MRAS MT-TS2 MYO7A NDP NF2 NRAS ORC1 OTX2 PCDH15 PDZD7 PEX6 PI4KB POLR1B POLR1C POLR1D POU3F4 PRRX1 PTEN PTPN11 RAF1 RASA2 RIT1 RRAS RRAS2 SALL4 SEMA3E SETBP1 SIX1 SIX5 SLC26A4 SMARCB1 SOS1 SOS2 SOX10 SPRED1 SPRED2 SRCAP TCOF1 THOC1 TIMM8A TMIE TP63 TRRAP TWIST1 USH1C USH1G USH2A USP48 VHL WHRN HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL AKT1 CHN1 ERF EYA1 FGFR2 FGFR3 GJB2 GJB6 MAFB OTX2 POLR1B POLR1C POLR1D POU3F4 PRRX1 PTEN SALL4 SIX1 TCOF1 TWIST1 HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY AHCY ALG12 ALG2 ALG6 ALG8 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BRAF DPAGT1 DPM1 DPM2 F11 F12 F8 F9 GGCX KNG1 LMAN1 LZTR1 MAP2K1 MCFD2 MGAT2 MPI NGLY1 PGM1 PMM2 PTPN11 SERPINC1 SLC37A4 SOS1 SRD5A3 VKORC1 VWF HP_ABNORMALITY_OF_THE_KNEE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_KNEE ABCC6 ACAN ACTA1 ADGRV1 ADNP AEBP1 AIFM1 ALDH18A1 ALG14 ALG2 ANAPC1 ANKLE2 ANKRD55 ANO5 AP4B1 AP4E1 AP4M1 AP4S1 ARF1 ARFGEF2 ARID1B ARL6IP1 ARSB ARSK ARVCF ASAH1 ATP6V1E1 ATP7A ATRX B3GALT6 B3GAT3 B4GALT7 BAG3 BAZ1B BCL7B BCOR BGN BHLHA9 BICD2 BMP1 BPNT2 BRAF BRF1 BUD23 C19orf12 CAMK2A CANT1 CBFB CBS CCN6 CD247 CDC45 CDC6 CDT1 CENPT CFL2 CHRNB1 CHRNG CHST11 CHST3 CLCN7 CLIP2 CNTNAP1 COG5 COL10A1 COL11A1 COL12A1 COL1A1 COL1A2 COL25A1 COL2A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLQ COMP COMT COX11 CPT2 CREBBP CSGALNACT1 CTC1 CTDP1 CTNS CYP19A1 CYP27B1 CYP2R1 CYP3A4 DDR2 DDRGK1 DHX16 DMD DMP1 DNAJC30 DNMT3A DONSON DPAGT1 DPM1 DPYSL5 DYM DYNC2LI1 DYSF EBP ECEL1 EFL1 EIF2AK3 EIF4H ELN EMD ENPP1 EP300 ERCC1 ERCC6 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EZH2 FBLN5 FBN1 FBN2 FDFT1 FGD1 FGFR3 FHL1 FKBP10 FKBP6 FLNA FLNB FLNC FN1 FZD2 GABRA1 GABRD GABRG2 GALNS GAN GDF5 GFPT1 GJB2 GJB6 GLB1 GLI1 GLI3 GMNN GMPPB GNB2 GNPTAB GNPTG GP1BB GPC6 GRIA3 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HACD1 HBB HCN1 HEATR3 HERC2 HGD HIRA HNRNPH1 HPGD HRAS HS2ST1 HS6ST1 HSPG2 HYAL1 IARS2 IDH1 IDUA IFIH1 IFT172 IFT57 IHH IL2RA IL2RB IL6ST IPO8 ITGA7 JAG2 JMJD1C KAT6A KAT6B KIF1A KIF22 KIF7 KLHL41 KRAS KRT5 KY LAMB2 LBR LGI4 LIFR LIMK1 LMBR1 LMBRD2 LMOD3 LMX1B LONP1 LTBP1 MAB21L2 MAGEL2 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK8IP3 MATN3 MCOLN1 MCTP2 MEFV MEGF10 MEGF8 METTL27 MIA3 MKRN3 MLXIPL MMP13 MMP9 MPZ MTX2 MYH3 MYL1 MYL11 MYL2 MYO9A MYOT NALCN NCF1 NDUFAF6 NEB NEDD4L NEPRO NF1 NFATC2 NKX3-2 NLRP3 NOTCH2 NPAP1 NRAS NSD1 NT5C2 OCRL ORC1 ORC4 ORC6 P4HTM PCDH19 PDGFRB PEPD PHEX PI4KA PIEZO2 PIGA PIGY PIK3R2 PITX1 PKDCC PLOD1 PLOD2 PMP22 POLR3A POLRMT PRG4 PRKACA PRKACB PRKG2 PRMT7 PRR12 PSAT1 PSTPIP1 PTDSS1 PTEN PTH1R PTPN2 PTPN22 PUS3 PWAR1 PWRN1 RAB23 RAB33B RAD21 RBM8A RECQL4 RETREG1 RFC2 RMRP RNU4ATAC RPGRIP1L RPL10 RPL13 RREB1 RSPRY1 RTTN RUNX2 RYR1 SATB2 SCARF2 SCN1A SCN1B SCN2A SCN4A SCN9A SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SELENON SERPINH1 SF3B2 SFRP4 SH3PXD2B SHH SHOX SIK3 SKI SLC10A7 SLC18A3 SLC25A46 SLC26A2 SLC35A3 SLC35B2 SLC39A8 SLC6A9 SLCO2A1 SMAD2 SMAD3 SNAP25 SNORD115-1 SNORD116-1 SOX9 SPART SPTBN1 SRD5A3 STAT4 STX1A STX1B STXBP1 SVIL SYNE1 SYT2 TBC1D7 TBL2 TBX1 TBX4 TCTN3 TELO2 TFE3 TGDS TGFB1 TMEM270 TMTC3 TNFRSF1A TNFSF11 TONSL TOR1A TPM2 TPM3 TRAPPC2 TRIM2 TRIP11 TRPS1 TRPV4 TTC26 TUBB3 UBA1 UBR7 UFC1 UFD1 UFSP2 UGP2 UNC80 USP9X VCP VDR VPS13B VPS37D WASF1 WDR62 WNK1 WNT7A XYLT1 YY1 ZBTB20 ZEB2 ZNF699 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_THE_LARYNX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LARYNX ADARB1 AFF4 AHDC1 AMER1 ANG ANO3 ANXA11 APC ARSL ARVCF ASAH1 ASXL3 ATP6V1E1 ATXN2 BRF1 BTD C2CD3 CACNA1C CAPN15 CASR CAT CCNF CDKN2A CENPE CFAP410 CHCHD10 CHD7 CHEK2 CHMP2B CILK1 COL12A1 COMT CREBBP CTSK DAO DCTN1 DDRGK1 DDX3X DHCR7 DLK1 DTYMK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EDN1 EFL1 EIF4A3 EP300 EPHA4 EPHB4 ERBB4 EXTL3 FANCB FBXW7 FERMT1 FGF10 FGFR2 FGFR3 FIG4 FLNA FLNB FOXE1 FRAS1 FREM2 FUS GABRG2 GALC GIPC1 GLE1 GLI3 GLT8D1 GMNN GP1BB GRIN2A GRIP1 H3-3A H3-3B HAAO HDAC4 HIRA HNRNPA1 HNRNPR HOXD13 HS3ST6 HSPG2 HYLS1 IDH1 IFT80 INTU JMJD1C KANSL1 KAT6A KAT6B KCNMA1 KIF22 KIF7 KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LBR LMNA LONP1 LRP12 LRP4 LTBP3 LTBP4 MAP3K7 MATR3 MDM2 MEG3 MEIS2 MGP MID1 MKS1 MLH1 MSH2 MSH6 MT-CYB MYMK MYMX NEFH NEK1 NFIX NIN NLRP1 NOTCH2NLC NRCAM OPTN ORC6 PCNT PFN1 PHIP PKDCC PLG PLP1 POLR3A PON1 PON2 PON3 POR PORCN PPARGC1A PPM1D PRMT7 PRPH PRRX1 PSAP PTH1R PUF60 RAF1 RAI1 RALGAPA1 RFX7 RILPL1 ROBO1 RPL10 RREB1 RSPO1 RSPO2 RTL1 SATB2 SCARF2 SCN4A SEC24C SEMA3E SERPING1 SETBP1 SF3B4 SIAH1 SLC26A2 SMAD2 SMAD4 SNIP1 SOD1 SOX4 SOX9 SPTBN1 SQSTM1 SRPX2 SYT1 TAF1 TAF15 TARDBP TBK1 TBX1 TBX3 TCTN3 TONSL TP53 TREM2 TSPYL1 UBE3B UBQLN2 UFC1 UFD1 UNC13A VAPB VCP VPS13B WDR35 WNT3 WRN XPNPEP2 ZBTB7A ZIC3 ZNF699 HP_ABNORMALITY_OF_THE_LEYDIG_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS ALMS1 CYP11A1 FSHB GNAS LHB MC2R MRAP NNT PDE11A PRKAR1A SMS STAR TXNRD2 HP_ABNORMALITY_OF_THE_LIVER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LIVER ABCA1 ABCA12 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCD1 ABCD3 ABCG5 ABCG8 ABHD5 ACAD9 ACADM ACADS ACADVL ACAT1 ACOX1 ACP5 ACSL5 ACTG2 ACVR2B ACVRL1 ADA ADA2 ADAMTS13 ADAMTSL2 ADAR ADK AGA AGGF1 AGL AGPAT2 AGR2 AHCY AIRE AKR1D1 AKT2 ALAS2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG5 ALG6 ALG8 ALG9 ALMS1 AMACR ANK1 ANKRD55 ANKS6 ANTXR1 AP1B1 AP1S1 AP3B1 AP3D1 APC APC2 APOA1 APOB APOC2 APOE APPL1 ARG1 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL6 ARMC5 ARSA ARSB ARVCF ASAH1 ASL ASS1 ASXL1 ATAD3A ATP11C ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6AP2 ATP6V1B2 ATP7A ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX AUH AXIN1 B2M B3GLCT B4GALT1 B9D1 B9D2 BAAT BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCHE BCL7B BCS1L BICC1 BLK BLM BLNK BLVRA BMP2 BMP6 BMPER BMPR1A BOLA3 BRCA1 BRCA2 BRIP1 BSCL2 BTD BTK BTNL2 BUD23 C1QBP C1S C2orf69 C4B CA2 CA5A CALR CARS2 CASK CASP10 CASP8 CASR CASZ1 CAV1 CAVIN1 CBL CBS CC2D2A CCDC115 CCDC28B CCDC47 CCND1 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD55 CD70 CD79A CD79B CD81 CD96 CDAN1 CDIN1 CDKN1B CDKN1C CDKN2A CEACAM3 CEACAM6 CEL CEP120 CEP164 CEP19 CEP290 CEP83 CFAP418 CFTR CHD7 CIDEC CIITA CLCA4 CLCN7 CLDN1 CLEC7A CLIP2 CLPB CNOT1 CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COG8 COMT CORIN COX14 COX15 COX4I2 COX5A CP CPA1 CPLX1 CPOX CPT1A CPT2 CR2 CREBBP CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNB1 CTNS CTRC CTSA CTSC CTSK CYBA CYBB CYBC1 CYP19A1 CYP27A1 CYP7A1 CYP7B1 DAXX DCDC2 DCLRE1C DCTN4 DDOST DDRGK1 DEF6 DGUOK DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DLL4 DMPK DNAJB11 DNAJC19 DNAJC21 DNAJC30 DNASE1L3 DNASE2 DOCK2 DOCK6 DPAGT1 DPF2 DPM1 DPM2 DUOX2 DUOXA2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EARS2 EDNRA EFL1 EIF2AK3 EIF4H ELN ENG ENPP1 EOGT EP300 EPB41 EPB42 EPCAM ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH EWSR1 EXTL3 F5 FADD FAH FAM111B FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSA FARSB FAS FASLG FBN1 FBP1 FCGR2A FCGR3B FDX2 FECH FERMT3 FGA FGFR2 FGFRL1 FH FKBP6 FLI1 FLNC FLT1 FOCAD FOS FOXF1 FOXP3 FOXRED1 FTH1 FTL FUCA1 G6PC1 G6PC3 G6PD GAA GABRD GALE GALK1 GALM GALNS GALT GANAB GATA2 GATA6 GBA1 GBE1 GCDH GCGR GCK GCLC GDF2 GFM1 GH1 GIMAP5 GLB1 GLIS3 GLRX5 GNAS GNB2 GNE GNMT GNPTAB GNS GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GUCY2D GUSB GYPC H19 HADH HADHA HADHB HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEPACAM HESX1 HEXB HFE HGSNAT HIRA HJV HK1 HLA-DRB1 HMBS HMGCL HMGCS2 HMOX1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPA2B1 HOXD13 HPGD HSD17B10 HSD17B4 HSD3B7 HSPG2 HTRA2 HYMAI HYOU1 IARS1 ICOS IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 IGF2R IGHG2 IGHM IGKC IGLL1 IKBKG IL12A IL12RB1 IL17F IL17RA IL17RC IL18BP IL1RN IL21R IL2RA IL2RB IL2RG IL36RN IL6 IL6ST IL7R INPP5E INPPL1 INS INSR INTU INVS IQCB1 IRAK4 IRF2BP2 IRF4 IRF5 IRF8 ITCH ITK IYD JAG1 JAK1 JAK2 JAK3 JAM2 JAM3 JMJD1C KCNAB2 KCNH1 KCNJ11 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KDM5C KIAA0753 KIF12 KIF20A KIF23 KIF3B KIT KLF1 KLF11 KMT2B KMT2D KMT2E KPTN KRAS KRIT1 KRT18 KYNU LACC1 LAMA5 LARS1 LBR LCAT LDLR LDLRAP1 LETM1 LHX3 LHX4 LIG3 LIG4 LIMK1 LIPA LIPE LMBRD1 LMNA LMNB2 LONP1 LPIN2 LPL LRP5 LRPPRC LRRC8A LSM11 LTBP3 LUZP1 LYRM4 LYST LYZ LZTFL1 LZTR1 MAD2L2 MADD MAGT1 MAN2B1 MAPK8IP3 MARS1 MCCC1 MCM4 MECOM MECP2 MED12 MED25 MEFV MEG3 MET METTL27 MFN2 MICOS13 MICU1 MIF MKKS MKS1 MLH1 MLH3 MLXIPL MMAA MMAB MMACHC MMEL1 MMP23B MMUT MOGS MPC1 MPI MPL MPV17 MRAS MRPL3 MRPL44 MRPS28 MRPS7 MS4A1 MSH2 MSH6 MST1 MT-ATP6 MT-ATP8 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTRR MTTP MTX2 MUC5B MVK MYBPC3 MYC MYD88 MYL2 MYO5B MYORG MYPN MYRF NAA10 NAB2 NAE1 NAF1 NAGA NAGLU NAGS NBAS NCF1 NCF2 NCF4 NCKAP1L NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK1 NEK8 NELFA NEU1 NEUROD1 NEUROG3 NFKB1 NFKB2 NFKBIA NFS1 NGLY1 NHLRC2 NHP2 NKX2-5 NLRP1 NLRP3 NOD2 NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPM1 NR1H4 NRAS NSD1 NSD2 NSMCE2 NUBPL OCLN OFD1 OSTM1 OTUD5 PALB2 PALLD PARN PARS2 PAX4 PAX8 PC PCCA PCCB PCK1 PCK2 PCSK1 PCSK9 PDE11A PDGFB PDGFRA PDGFRB PDGFRL PDPN PDX1 PEPD PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGM1 PHKA2 PHKB PHKG2 PI4KA PIEZO1 PIGA PIGG PIGL PIGM PIGS PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKD1 PKD2 PKHD1 PKLR PLAGL1 PLEKHM1 PLIN1 PMM2 PMS1 PMS2 PNPLA2 PNPLA6 POLD1 POLG POLG2 POLR3A POMC POU1F1 POU2AF1 POU6F2 PPARG PPOX PPP1R21 PRDM16 PRF1 PRIM1 PRKAR1A PRKCD PRKCSH PRKCZ PROP1 PRPS1 PRSS1 PRSS2 PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN11 PTPN2 PTPN22 PTPN3 PTPRC PTRH2 PUS7 PYGL RAB27A RABL3 RAC2 RAD51 RAD51C RAF1 RAG1 RAG2 RASA2 RASGRP1 RBCK1 RBM8A RBPJ RECQL4 REL RELA RERE REST RFC2 RFT1 RFWD3 RFX5 RFX6 RFXANK RFXAP RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF43 RNU4ATAC RNU7-1 RORC RPGRIP1 RPGRIP1L RPS20 RRAS RRAS2 RREB1 RRM2B RTEL1 RTL1 RUNX1 SAA1 SAMHD1 SAR1B SASH3 SBDS SC5D SCAPER SCARB2 SCLT1 SCN4A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL1 SDCCAG8 SDHA SDHB SDHC SDHD SEC23B SEC24C SEC63 SEMA4A SEMA4D SEMA7A SERPINA1 SERPINC1 SETBP1 SETD2 SF3B1 SFTPA2 SFTPC SGSH SH2D1A SHPK SKI SKIC2 SKIC3 SLC10A1 SLC11A1 SLC11A2 SLC16A2 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A4 SLC26A4 SLC26A9 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC39A7 SLC39A8 SLC40A1 SLC44A1 SLC4A1 SLC51A SLC51B SLC5A5 SLC6A14 SLC7A7 SLC9A3 SLCO1B1 SLCO1B3 SLCO2A1 SLX4 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMPD1 SNX10 SNX14 SOCS1 SON SOS1 SOS2 SOX10 SOX11 SOX4 SP110 SPEN SPI1 SPIB SPINK1 SPOP SPRED2 SPRTN SPTA1 SPTB SPTBN1 SRP54 SRSF2 STAT1 STAT3 STAT4 STAT6 STEAP3 STK11 STN1 STOX1 STX11 STX1A STXBP2 SUCLG1 SUMF1 SUPT16H SURF1 SYK TALDO1 TARS2 TBL2 TBX1 TBX19 TCF3 TCF4 TCIRG1 TCN2 TCTN1 TCTN2 TCTN3 TERC TERT TET2 TF TFAM TFE3 TFR2 TG TGFB1 TGFBR2 TIMMDC1 TINF2 TJP2 TKFC TKT TLR8 TMEM107 TMEM126B TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMPRSS6 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TNFSF15 TNNI3 TNNT2 TNPO3 TOGARAM1 TOM1 TP53 TPI1 TPO TPP2 TRAC TRAF3IP1 TRAF3IP2 TRAPPC11 TREX1 TRHR TRIM28 TRIM32 TRIM37 TRIP13 TRMT5 TRMU TRPV6 TSC1 TSC2 TSFM TSHB TSHR TTC21B TTC26 TTC7A TTC8 TUFM TULP3 TWNK TXNDC15 TYMP TYMS UBE2T UBE4B UBR1 UCP2 UFD1 UGT1A1 UNC13D UNC45A UQCRB UQCRFS1 UROD UROS USB1 USP18 USP53 USP9X VCP VHL VIPAS39 VPS11 VPS13A VPS33A VPS33B VPS37D VPS45 VPS4A VPS50 WDPCP WDR19 WDR35 WRAP53 WT1 XIAP XK XPR1 XRCC2 XRCC4 XYLT1 YARS1 YARS2 ZAP70 ZFTA ZFYVE19 ZIC3 ZNF699 ZNFX1 ZPR1 HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT ABCD1 ABL1 ACER3 ACTA1 ACTG2 ADA2 ADAT3 ADH1C ADNP AFF4 AGXT AIP AKT1 ALDH18A1 ALG12 ALG9 ALMS1 ALS2 AMFR ANKLE2 ANKRD11 AP5Z1 APC2 APRT AQP2 AR ARCN1 ARID1A ARID1B ARID2 ARL6IP6 ARNT2 ARSA ARVCF ARX ASPM ASXL1 ATL1 ATP13A2 ATP1A3 ATP6AP2 ATP7A ATR ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS AUH AVPR2 B3GLCT B4GALNT1 B9D1 B9D2 BAP1 BAZ1B BCL7B BCOR BDNF BICC1 BICRA BIN1 BMP1 BNC2 BPTF BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1B BUD23 C2CD3 CABP4 CACNA1G CACNA1H CACNA1S CAMK2B CAPN1 CARMIL2 CARS1 CASZ1 CC2D2A CCBE1 CCDC22 CCDC8 CCL2 CCND1 CCNQ CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDK5RAP2 CDK6 CDKN1C CDT1 CENPE CENPJ CEP135 CEP152 CEP290 CEP63 CEP85L CFAP43 CHCHD10 CHD4 CHD7 CHMP2B CHRM3 CHRNA2 CHRNA3 CHRNA4 CHRNB2 CHRNG CHST14 CILK1 CISD2 CIT CLCN6 CLCNKB CLIP2 CLMP CLN3 COG1 COG5 COG7 COL18A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL7A1 COLEC10 COLEC11 COMT COPB1 COPB2 COQ2 COX7B CPLX1 CPT1C CREBBP CRH CSPP1 CTBP1 CTC1 CUL4B CUL7 CUX1 CYB5A CYP11A1 CYP17A1 CYP21A2 CYP7B1 DACT1 DARS2 DBH DCDC2 DCHS1 DDHD2 DDX6 DEPDC5 DHCR7 DHX37 DKC1 DKK1 DLG3 DLL3 DMPK DMRT3 DNAJC13 DNAJC19 DNAJC30 DNM2 DNMT1 DNMT3A DPF2 DPH1 DPH2 DPH5 DPP9 DPYSL5 DSE DSTYK DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DYSF EBF3 EFEMP2 EFNB1 EHMT1 EIF2AK1 EIF2AK2 EIF4G1 EIF4H ELN ELOVL1 EN1 EP300 EPG5 EPHB4 ERCC4 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 EVC EVC2 EXT1 EXT2 EYA1 FA2H FAM20A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBLN5 FBXL4 FBXO7 FDFT1 FERMT1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FITM2 FKBP14 FKBP6 FLNA FLT4 FLVCR1 FMR1 FOCAD FOXC1 FOXF1 FOXP1 FOXP2 FRAS1 FREM2 FRMD5 FUS FUZ FXN FZD2 G6PC3 GAA GABRA1 GABRA3 GABRB3 GABRD GABRG2 GALC GALNT2 GATA1 GATA3 GATA4 GATAD2B GBA1 GBA2 GBE1 GFAP GGT1 GIGYF2 GJA1 GJC2 GLI1 GLI3 GLUD2 GMNN GNA11 GNB1 GNB2 GP1BB GPC3 GPC4 GPR101 GRB10 GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C11 H4C9 HAAO HACE1 HBA1 HBA2 HCCS HDAC8 HEATR3 HES7 HEXB HIRA HLA-B HLA-DQB1 HLA-DRB1 HMBS HMGA2 HNF1B HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPK HNRNPU HOGA1 HOXA13 HOXD13 HPDL HPRT1 HPSE2 HS6ST2 HSD17B10 HSD17B3 HSD3B2 HSPA9 HSPD1 HSPG2 HTRA1 HUWE1 HYLS1 IFT57 IFT80 IGF2 IGHMBP2 IKZF1 ISL1 ITGA6 ITGB4 JAG1 JMJD1C JRK KANSL1 KAT5 KAT6B KCNAB2 KCNC3 KCND3 KCNJ10 KCNJ18 KCNQ1 KCNQ1OT1 KCNT1 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIAA0753 KIF14 KIF1A KIF5A KIF7 KIFBP KLF1 KLHL40 KLHL41 KMT2B KMT2C KMT2D KNL1 KPNA3 KRAS KY LAMA3 LAMB3 LAMC2 LETM1 LFNG LIG3 LIG4 LIMK1 LMNA LMNB1 LMOD1 LMOD3 LRIG2 LRPPRC LRRK2 LSS LTBP1 LTBP4 LUZP1 MAB21L2 MACF1 MAD2L2 MAMLD1 MAP2K1 MAP3K1 MAP3K7 MAPKAPK5 MAPKBP1 MAPRE2 MAPT MARS2 MBTPS2 MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED25 MED27 MESP2 METTL27 METTL5 MFSD2A MID1 MKKS MKS1 MLXIPL MMP1 MMP23B MNX1 MORC2 MPZ MT-TT MTFMT MTM1 MTMR14 MTOR MYCN MYF6 MYH11 MYL9 MYLK MYMK MYMX MYO1H MYOCD MYRF NAA10 NAB2 NBN NCAPD3 NCAPG2 NCF1 NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFB8 NDUFS4 NEB NEFL NELFA NEXMIF NF2 NFIA NGF NHP2 NIPA1 NIPBL NKX2-1 NOP10 NOTCH2 NOTCH2NLC NOTCH3 NPHP3 NPM1 NR0B1 NR2F2 NR4A2 NR5A1 NRIP1 NSD1 NSD2 NSUN2 NUP37 OBSL1 OGT ORC1 ORC4 ORC6 OTUD5 PAH PAICS PAK2 PALB2 PANK2 PARN PAX2 PAX6 PBX1 PCNT PDCD1 PDE4D PDGFB PDGFRB PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHC1 PI4KA PIEZO2 PIGA PIGG PIGN PIGO PIGQ PIK3CA PIK3R5 PINK1 PITX2 PKP1 PLA2G6 PLAG1 PLD1 PLEC PLOD1 PLP1 PLXNA1 PMP22 PNPLA6 PNPT1 POLA1 POLE POLG POLG2 POLR3A POLRMT POR POT1 PPOX PPP1R12A PPP3CA PQBP1 PRDM16 PRDM8 PRKACA PRKACB PRKAR1B PRKCZ PRMT7 PRNP PRPS1 PSAP PSMD12 PSPH PTDSS1 PTPN11 PTPRF PUF60 PYCR2 RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RALGAPA1 RARB RASA1 RBBP8 RBCK1 RBM8A RECQL4 REEP1 REEP2 RERE RETREG1 RFC2 RFWD3 RIN2 RIPPLY2 RLIM RNF125 RNF168 RNF170 RNU12 ROBO1 ROBO2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RRM2B RSPO1 RSRC1 RTEL1 RTN2 RTTN RYR1 SACS SALL1 SALL4 SAMD9 SARS1 SASS6 SBF1 SCN9A SCUBE3 SDHA SDHAF1 SDHB SDHD SEC24C SEMA3E SETBP1 SETD2 SETD5 SETX SF3B2 SH2B1 SHANK3 SIAH1 SIGMAR1 SIN3A SIX1 SIX5 SIX6 SKI SKIC3 SLC12A3 SLC1A4 SLC20A2 SLC25A10 SLC25A13 SLC25A4 SLC2A1 SLC31A1 SLC35A2 SLC44A1 SLC5A2 SLC9A6 SLX4 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMS SNCA SNCAIP SOX11 SOX17 SOX2 SOX4 SOX9 SP110 SPART SPAST SPEN SPG11 SPG7 SPOP SPRED1 SPTBN1 SPTLC1 SQSTM1 SRCAP SRD5A2 SRY SSR4 STAMBP STAR STAT1 STAT6 STIL STK11 STRA6 STUB1 STX1A SUCLG1 SUFU SYNE1 SYNGAP1 TAF13 TAPT1 TBCD TBCK TBL2 TBP TBX1 TBX22 TBXT TCF12 TCTN1 TCTN2 TCTN3 TERC TERT TFAP2A TGFB1 THOC6 TIMM50 TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM63A TMEM67 TMEM70 TMEM94 TNXB TOM1 TONSL TP63 TPP1 TRAF7 TRAPPC10 TRAPPC12 TRAPPC14 TRIM8 TRIO TRPS1 TRPV4 TRRAP TSR2 TTC8 TTR TUBB TWNK TXNDC15 TYMS TYROBP UBA1 UBAP1 UBE2A UBE2T UBE4B UBR1 UFC1 UFD1 UNC45A UPB1 USB1 USP9X VAC14 VAMP7 VANGL1 VANGL2 VCP VPS11 VPS35 VPS35L VPS37D WARS1 WASHC5 WDR35 WDR62 WFS1 WNT3 WNT4 WNT5A WNT7A WNT7B WRAP53 WT1 WWOX XRCC2 ZC4H2 ZEB2 ZFPM2 ZFYVE26 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699 HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM ABCA1 ABCA12 ABCB11 ABCB4 ABCD3 ABCG8 ABL1 ACD ACP5 ACVR2B ADA ADA2 ADAMTS3 ADAR AFF4 AGA AGPAT2 AGR2 AICDA AIRE AK2 AKR1D1 AKT1 AKT2 ALAS2 ALDOA ALG1 ALG14 ALG9 ALMS1 ALPK1 ANK1 ANKRD55 ANTXR2 AP3B1 AP3D1 APOA1 APOC2 APOE ARPC1B ARSB ARVCF ASAH1 ASXL1 ATM ATP6AP1 ATP6V1B2 ATP7B ATP8B1 ATRX B2M B4GALT1 B9D1 B9D2 BACH2 BANK1 BAP1 BCL10 BCL11A BCL2 BCL6 BCOR BCR BIRC3 BLK BLM BMP2 BMP6 BPGM BRAF BRCA1 BRCA2 BSCL2 BTD BTK BTNL2 C3 C4A C4B CA2 CALR CARD11 CARD9 CASK CASP10 CASP8 CASR CASZ1 CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC103 CCDC115 CCDC32 CCDC39 CCDC40 CCDC47 CCDC65 CCND1 CCNO CCR1 CD19 CD247 CD27 CD28 CD3D CD3E CD40 CD40LG CD55 CD70 CD81 CDAN1 CDC42 CDIN1 CDK4 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CELSR1 CENPF CEP290 CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP74 CFC1 CFTR CHD7 CLCN7 CLDN1 CLPB COG1 COG4 COG5 COG6 COG7 COL18A1 COMT COX10 COX4I2 CPLX1 CPOX CR2 CREBBP CSF3R CSPP1 CTBP1 CTC1 CTLA4 CTNNBL1 CTNS CTSA CTSK CXCR4 CYBA CYBB CYBC1 CYP7B1 DAXX DCDC2 DCLRE1C DDRGK1 DEF6 DGUOK DHCR24 DHCR7 DIS3L2 DKC1 DLEC1 DLK1 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNASE1 DNASE1L3 DNASE2 DPM1 DRC1 DYNC2LI1 DZIP1L EIF2AK4 ELANE EP300 EPB41 EPB42 EPG5 EPHB4 EPOR ERAP1 ERBB3 ERCC6 ERCC8 ESCO2 ETS1 EWSR1 EXOC2 F5 FAH FAM111A FARSA FAS FASLG FAT4 FCGR2A FCGR2B FCGR3B FCHO1 FERMT3 FGA FGB FGFR2 FGFRL1 FGG FIP1L1 FLT4 FMO3 FOCAD FOXE1 FOXF1 FOXJ1 FOXP1 FOXP3 FRAS1 FREM2 FUCA1 G6PC3 G6PD GAA GABRD GALE GALK1 GAS2L2 GAS8 GATA1 GATA2 GBA1 GBE1 GCLC GDF1 GEMIN4 GIMAP5 GINS1 GLB1 GLIS3 GLRX5 GNB2 GNE GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GSN GUSB GYPC H19 HABP2 HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DPB1 HLA-DRB1 HMGA2 HMOX1 HPGD HRAS HSD17B4 HSD3B7 HSPG2 HYDIN HYLS1 IARS1 ICOS IDH1 IDH2 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IGHG1 IGHG2 IGKC IKBKG IKZF3 IL10 IL12A IL12A-AS1 IL12RB1 IL1RN IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 IRAK1 IRF2BP2 IRF4 IRF5 IRF8 ISG15 ITCH ITGAM ITK JAK1 JAK2 JAK3 JAZF1 JMJD1C KATNB1 KCNAB2 KCNH1 KCNMA1 KCNN3 KCNN4 KIAA0319L KIF3B KIT KLF1 KLRC4 KMT2D KPTN KRAS LACC1 LAT LBR LCAT LEMD3 LETM1 LIG4 LIPA LMNA LPIN2 LPL LRBA LRRC56 LSM11 LTBP4 LUZP1 LYST LYZ LZTR1 MAGT1 MALT1 MAN2B1 MAP2K2 MC1R MCIDAS MCM10 MCM4 MECOM MECP2 MED12 MEFV MEG3 MEGF8 MEN1 MGMT MICU1 MIF MINPP1 MITF MKS1 MMP21 MMP23B MMUT MNS1 MOGS MPEG1 MPI MPIG6B MPL MRAS MS4A1 MST1 MTHFR MVK MYC MYCN MYD88 MYO5A MYO5B MYRF NABP1 NAE1 NAGLU NBEAL2 NCF1 NCF2 NCF4 NCKAP1L NDE1 NDUFS4 NEK10 NEK8 NEK9 NEU1 NF1 NFATC2 NFKB1 NFKB2 NFKBIA NGLY1 NHLRC2 NHP2 NKX2-6 NLRC4 NLRP1 NLRP12 NLRP3 NME5 NME8 NOD2 NODAL NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS NSD2 NSMCE3 NUAK2 NUMA1 OAS1 OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORAI1 OSTM1 OTC OTULIN P4HA2 PAK2 PALB2 PALLD PARN PDCD1 PDGFRA PDPN PEPD PEX13 PEX2 PEX5 PEX7 PHKA2 PHKB PHKG2 PHYH PI4KA PIBF1 PIEZO1 PIGA PIGM PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKHD1 PKLR PLEKHM1 PLXND1 PML PNP PNPLA2 POLR1B POLR1C POLR1D POLR3A POMP POT1 POU6F2 PPARG PPP2R3C PRDM16 PRF1 PRIM1 PRKAR1A PRKCD PRKCZ PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PTPRC PXK RAB23 RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RARA RARB RASA1 RASA2 RASGRP1 RBCK1 RBM8A RELN RERE REST RFWD3 RHAG RHCE RHD RINT1 RIPK1 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNF6 RNU4ATAC RNU7-1 RORC RPGR RPGRIP1 RPGRIP1L RPSA RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RTEL1 RTL1 RUNX1 SAMD9 SAMD9L SAMHD1 SAT1 SC5D SCARB2 SCNN1A SCNN1B SCNN1G SCYL1 SDHD SEC23B SEC24C SEMA4D SERPINA1 SETBP1 SF3B1 SGSH SH2B3 SH2D1A SH3BP2 SKI SKIC2 SKIC3 SLC17A5 SLC25A13 SLC29A3 SLC2A1 SLC30A10 SLC37A4 SLC39A4 SLC4A1 SLC7A7 SLCO2A1 SMAD2 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SOX18 SP110 SPAG1 SPEF2 SPEN SPP1 SPRED2 SPTA1 SPTB SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STEAP3 STIM1 STING1 STK36 STRA6 STX11 STXBP2 SUMF1 SYK TALDO1 TBL1XR1 TBX1 TBX2 TBXAS1 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TERC TERF2IP TERT TET2 TFAP2A TFE3 TGFB1 TGFBR2 THPO TINF2 TLR4 TLR7 TLR8 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TNFSF4 TNIP1 TOM1 TP53 TP63 TPI1 TPP2 TRAC TREX1 TRIM28 TRIP13 TRNT1 TRPV6 TSC1 TSC2 TTC12 TTC26 TTC7A TULP3 TWIST1 TXNDC15 TYMS UBAC2 UBE2L3 UBE4B UBR1 UFD1 UMPS UNC13D UNG UROD UROS USB1 USP53 VANGL2 VPS11 VPS13A VPS33A VPS33B VPS45 WAS WDR1 WDR35 WIPF1 WNT3 WNT7B WRAP53 WT1 WWOX XIAP XK XRCC4 YARS1 YME1L1 ZAP70 ZBTB16 ZBTB7A ZEB2 ZFYVE19 ZIC3 ZMYND10 ZNF699 ZNFX1 HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE AGGF1 AGPAT2 AIP AKT1 AKT2 ALMS1 ANOS1 ANTXR1 AR ARMC5 ATP7B ATRX AXL BAP1 BBS9 BCOR BLOC1S3 BLOC1S5 BMP15 BMP2 BMP6 BMPR1B BNC1 BPTF BRAF BRD4 BSCL2 BTG4 C14orf39 CAV1 CAVIN1 CCDC141 CDH23 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CHD7 CIDEC CISD2 CLPP CPE CTDP1 CYB5A CYP11B1 CYP17A1 CYP19A1 DCC DHH DHX37 DIAPH1 DIAPH2 DMRT3 DNM1L DTNBP1 DUSP6 EIF2B1 EIF2B2 EIF2B3 EIF2B4 ERAL1 ERCC6 ERCC8 ESR1 ESR2 F10 F11 F13A1 F13B F2 F5 F7 F8 FANCM FEZF1 FGA FGB FGF17 FGF8 FGFR1 FGFR3 FGG FIGLA FIP1L1 FLI1 FLRT3 FMR1 FOS FOXA2 FOXL2 FSHB FSHR GALT GATA3 GATA4 GDF9 GHR GLI2 GNAS GNRH1 GNRHR GP1BA GP1BB GP6 GP9 GPR101 GPR161 H6PD HAMP HARS2 HDAC8 HERC2 HESX1 HFE HFM1 HJV HMGA2 HPS4 HPS5 HS6ST1 HSD17B4 HSF2BP IGF2 IL17RD IRF2BP2 ITGA2B ITGA8 ITGB3 KISS1 KISS1R KPNA7 LARS2 LEP LEPR LHB LHX4 LIG4 LIPE LMAN1 LMNA MAGEL2 MAP3K1 MCFD2 MCM8 MCM9 MEN1 MKRN3 MOS MRPS22 MSH4 MSH5 MSTO1 MYH9 NABP1 NBEAL2 NDN NDNF NF2 NHLH2 NIN NIPBL NOBOX NPAP1 NPM1 NR0B1 NR3C1 NR5A1 NSMF NUMA1 NUP107 OCA2 OTX2 PAPSS2 PCSK1 PDE4D PDGFB PEX1 PEX10 PEX6 PHKA2 PHKB PHKG2 PIK3CA PLAG1 PLAU PLIN1 PML POF1B POLG POLG2 POLR3H POR POU1F1 PPARG PRKACG PRKAR1A PRLR PROK2 PROKR2 PROP1 PRORP PSMB8 PSMC3IP PSMD12 PTPN11 PWAR1 PWRN1 RAD21 RARA RASGRP2 RCBTB1 RNF216 ROBO1 SEMA3A SEMA3E SERPINE1 SETD2 SIM1 SLC25A13 SLC29A3 SLC37A4 SLFN14 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOST SOX10 SOX3 SOX9 SPIDR SPRY4 SRA1 SRY STAG3 STAT3 STAT5B STUB1 SUFU SYCE1 TAC3 TACR3 TBL1X TBL1XR1 TERT TFR2 TKT TP53 TP63 TPR TRAF7 TRIP13 TRMT10A TWNK USP48 USP8 VAMP7 VWF WAS WDR11 WIPF1 WNT4 WNT7A WRN WT1 WWOX YARS1 ZBTB16 ZFPM2 ZMPSTE24 ZSWIM7 HP_ABNORMALITY_OF_THE_METOPIC_SUTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE ABCC8 ACTB ACTG1 ADAMTSL1 ADARB1 ADSL ALG9 ASXL1 ASXL3 ATIC CAMSAP1 CDC6 CDK8 CDKN1C CLCN3 COL25A1 DDB1 DIAPH1 ERCC1 ERCC2 ERCC5 ERCC6 ERF ERMARD FGFR1 FGFR2 FOXG1 FREM1 GCK GJA5 GJA8 GLI3 GNPTAB GPC3 GPC4 H3-3B HERC1 HNRNPK HNRNPU IFT140 IGF2 IL11RA INS INTU KANSL1 KCNJ11 KCNQ1 KCNQ1OT1 KDM4B KDM5B LMX1B MAF MAP1B MAPK1 MID1 MSX2 NAA10 NARS2 NFIA NOTCH3 NSRP1 NUP188 OTUD5 PCDHGC4 PDX1 PIGA PIGT PPFIBP1 PPP2R1A PTCH1 PURA RNU4ATAC RTTN SC5D SETBP1 SIX2 SMARCD1 SMG9 SON SRCAP STAT3 STXBP1 TBCK TMEM216 TOGARAM1 TWIST1 WDR35 ZFHX4 ZNF292 ZNF462 HP_ABNORMALITY_OF_THE_MIDDLE_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR A2ML1 ABCA12 ABCA4 ABCC6 ACP5 ACVR1 ADA ADA2 ADAMTS3 ADAT3 AFF4 AGA AGBL5 AGR2 AHI1 AHR AIFM1 AIRE AK2 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 AMER1 AMMECR1 ANAPC1 ANKH ANKRD11 AP3B1 APC2 ARHGAP29 ARHGEF18 ARHGEF38 ARID2 ARL2BP ARL3 ARL6 ARSL ARVCF ASPRV1 ATN1 B3GALT6 B3GLCT BAP1 BAZ1B BBS1 BBS2 BCL7B BCOR BEST1 BLM BLNK BMP2 BMP4 BPTF BRD4 BTK BUD23 C1QB C4B CA2 CA4 CACNA1B CARMIL2 CASZ1 CC2D2A CCBE1 CCDC103 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CD19 CD247 CD3D CD3E CD3G CD4 CD79A CD79B CD81 CDC42BPB CDCA7 CDH1 CDH11 CDHR1 CDK5RAP2 CERKL CFAP221 CFAP298 CFAP300 CFAP418 CFAP45 CFAP52 CFAP74 CFI CHD7 CHRNG CIITA CLCN7 CLIP2 CLRN1 CNGA1 CNGB1 CNOT1 CNOT3 COBLL1 COG1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COMT CORO1A CPLANE1 CPLX1 CR2 CRB1 CREB3L1 CREBBP CRX CTBP1 CTLA4 CTNND1 CTSK CXCR4 CYBA CYBB CYBC1 CYP4F22 DCHS1 DCLRE1C DDB1 DDR2 DEAF1 DHCR7 DHDDS DHODH DHX38 DIAPH3 DLG1 DLK1 DLST DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DNMT3A DOCK2 DOCK8 DPF2 DPP9 DRC1 DVL1 EDN1 EDNRA EFTUD2 EIF4H EIF5A ELANE ELMO2 ELMOD3 ELN ENPP1 EP300 EPAS1 ERCC6 ERCC8 ERF EXT1 EYA1 EYA4 EYS FAM149B1 FAM161A FAM20C FANCF FANCI FAT4 FBN1 FBXW7 FCGR3A FGF10 FGF3 FGF9 FGFR2 FGFR3 FGFRL1 FH FKBP14 FKBP6 FLII FLNA FLNB FMR1 FOCAD FOXJ1 FOXP1 FRAS1 FREM2 FSCN2 FZD2 G6PC3 GABRD GALNT2 GAS2L2 GAS8 GATA1 GATA2 GDF5 GDF6 GJA1 GJB2 GJB6 GLRA2 GMNN GNB2 GNPTAB GNS GP1BB GRHL3 GRIP1 GSC GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUSB H4C3 H4C5 HAX1 HDAC4 HDAC8 HEPHL1 HGSNAT HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNRNPK HOXA2 HSPG2 HYAL1 HYDIN ICOS IDH3A IDH3B IDS IDUA IFT140 IFT172 IFT88 IGBP1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IL11RA IL17RA IL21R IL2RB IL2RG IL6R IL6ST IL7R IMPDH1 IMPG1 IMPG2 IQSEC2 IRF2BP2 IRF6 JAGN1 JAK3 JMJD1C KANSL1 KAT6A KCNAB2 KDM6A KIAA0753 KIAA1549 KIF15 KIF1B KIF7 KIZ KLHL7 KMT2A KMT2D KMT5B LBR LETM1 LIG1 LIMK1 LIPN LMNA LONP1 LRAT LRBA LRP5 LRRC56 LRRC8A LUZP1 MAGT1 MAK MAN2B1 MAP3K7 MAPK1 MASP1 MAX MCIDAS MDH2 MED12 MEG3 MEOX1 MERTK METTL27 MGP MLXIPL MMP23B MNS1 MPDU1 MS4A1 MSX1 MYCN MYH3 NAA10 NBN NCF1 NCF2 NCF4 NCKAP1L NECTIN1 NEK1 NEK10 NEK2 NELFA NF1 NFIX NFKB1 NFKB2 NFKBIA NIPAL4 NIPBL NKX2-1 NME5 NME8 NOG NOTCH2 NOTCH2NLC NOTCH3 NR2E3 NRL NSD1 NSD2 NXN OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OSTM1 OTOF P4HA2 PAX1 PCARE PCGF2 PCYT1A PDE6A PDE6B PDE6D PDE6G PDGFRA PDPN PEPD PGM1 PGM3 PHIP PIGG PIGL PIK3C2A PIK3CD PIK3CG PIK3R1 PLCG2 PLG PNP POLR1B POLR1C POLR1D POLR3A POMGNT1 POR PORCN POU3F4 PRCD PRDM16 PRDM5 PRKAR1B PRKCD PRKCZ PROM1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PRTN3 PSMB8 PSMD12 PTEN PTPN22 RAB23 RAC1 RAC2 RAD21 RAG1 RAG2 RAI1 RBP3 RDH12 RECQL4 REEP6 RELB RERE RET RFC2 RFX5 RFXANK RFXAP RGR RHO RIC1 RLBP1 RNF168 RNF2 RNU4ATAC ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL11 RPS23 RPS26 RPS28 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RUNX2 SAG SALL4 SC5D SCAPER SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC24C SEMA4A SETBP1 SETD2 SF3B2 SF3B4 SGMS2 SH2B1 SH3KBP1 SIN3A SIX1 SIX5 SKI SLC25A11 SLC25A12 SLC25A24 SLC35C1 SLC37A4 SLC39A7 SLC7A14 SLF2 SMARCD2 SMC1A SMC3 SMCHD1 SMG9 SNRNP200 SNRPB SNX10 SOST SOX9 SP7 SPAG1 SPATA7 SPEF2 SPEN SPI1 SPTBN1 SRCAP SRY STAC3 STAG2 STAT3 STK36 STX1A SULT2B1 SYK TAF1 TAOK1 TAP1 TAP2 TAPBP TBL2 TBX1 TBX22 TBX4 TCF3 TCIRG1 TCOF1 TCTN3 TELO2 TFAP2A TFE3 TGDS TGM1 TLK2 TLR8 TMCO1 TMEM127 TMEM216 TMEM270 TMEM67 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNRC6B TOPORS TP63 TP73 TPP2 TRAC TRPS1 TSHZ1 TSR2 TTC12 TTC8 TUB TULP1 TWIST1 TXNL4A UBB UBE4B UFD1 UNC119 USB1 USH2A USP26 VARS1 VHL VPS37D WAS WDR26 WIPF1 ZBTB20 ZEB2 ZMPSTE24 ZMYND10 ZNF341 ZNF408 ZNF469 ZNF513 ZNF699 HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES ABCC6 BPTF COL1A1 COL1A2 ENPP1 EYA1 GDF6 GJB2 GJB6 IDS IL11RA MAP3K7 NOG NOTCH3 POLR1D POU3F4 PSMD12 RAD21 SETBP1 SIX1 SIX5 STAG2 TFAP2A HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES EOGT FGFR1 FGFR2 FGFR3 FIG4 HOXD13 IHH NOG RAB23 TRPV4 VAC14 HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER BHLHA9 BMP2 BMPR1B FIG4 GDF5 HOXD13 IFT140 INTU MYCN NSDHL RUNX2 SRCAP HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER ATP6V1B2 BHLHA9 BMP2 BMPR1B DVL1 GATA1 GDF5 GJA1 GNB2 HOXD13 IFT140 IGF2 MYCN NIN NOG PUF60 RBBP8 ROR2 RUNX2 SRCAP TFAP2B WNT5A HP_ABNORMALITY_OF_THE_MITOCHONDRION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MITOCHONDRION AARS2 ACAD8 ACAD9 ACADM AFG3L2 AGK AIFM1 AK2 ATP5F1A ATP5F1D ATP5F1E ATPAF2 BCS1L BOLA3 C1QBP CAMKMT CARS2 CDK5 CHCHD10 CHKB COA3 COA5 COA6 COA8 COL7A1 COX16 COX20 COX4I1 COX5A COX6A2 CPT2 CRLS1 CYBA CYBB CYC1 CYP27A1 DGUOK DLAT DLD DNA2 DNAJC30 DNM1L DNMT1 EARS2 ECHS1 EHHADH ELAC2 ETFA ETFB ETFDH FBXL4 FDX2 FDXR FH FLAD1 FOXRED1 FUS FXN GATC GATM GFER GFM1 GFM2 GGPS1 GLRX5 GNE GTPBP3 GYG1 HACD1 HADH HADHA HIBCH HSD17B10 IBA57 ISCA2 ISCU KARS1 LIAS LIG3 LRPPRC LYRM4 LYRM7 MECR MFF MGME1 MIEF2 MMP1 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS22 MRPS23 MRPS25 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTFMT MTO1 MTRFR MYH14 MYH7 NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NFS1 NFU1 NSUN3 NUBPL PDHA1 PDHB PDHX PDP1 PET100 PET117 PEX5 PNPT1 POLG POLG2 PPM1B PREPL PTCD3 PUS1 QRSL1 RARS2 RRM2B SCN4A SCO1 SCO2 SDHA SDHB SDHD SFXN4 SLC25A10 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC34A1 SLC39A8 SLC3A1 SPG7 SQSTM1 SUCLA2 SUCLG1 TAFAZZIN TARDBP TBK1 TIMM22 TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT5 TRMU TSFM TTC19 TTN TWNK TXN2 TYMP UQCC2 UQCC3 UQCRB UQCRH UQCRQ VARS2 VCP YARS2 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND AAAS ACTA1 ADA2 AGRN AK9 ALS2 BICD2 BSCL2 CADM3 CAV3 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ COMP DCTN1 DOK7 DYSF EIF4A3 EMILIN1 FBXO38 FBXW11 FGD4 FGFR2 FLNA FLNC FXN GARS1 GATA1 GBF1 GDAP1 GJB1 GMPPA GNE GYG1 HARS1 HEATR3 HINT1 HOXA13 HSPB3 IDUA ITPR3 JAG1 KANSL1 KIF1A KLHL9 LAMB2 LDB3 LMNA LRP4 MAP3K7 MARS1 MATR3 MB MFN2 MORC2 MPZ MUSK MYH7 NEB NEFL NGLY1 PDK3 PLOD3 PMP22 PNPLA2 POLG PRX RAD51C RAPSN REEP1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RYR1 SALL4 SBF2 SCN4A SIGMAR1 SLC12A6 SLC25A21 SLC39A13 SLC52A3 SLC5A6 SPG11 SPTLC1 SQSTM1 STIM1 SVBP TBX5 TFG TIA1 TIMM8A TK2 TRAPPC11 TRIM2 TRPV4 TSR2 TTN VCP YARS1 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS AAAS AARS1 ABCD1 ABHD5 ACOX1 ACTA1 ACTB ACTL6B ACTN2 ADA2 ADAR ADCY5 ADGRG1 ADSS1 AFG3L2 AGRN AIFM1 AK9 AKT1 ALAD ALDH18A1 ALG11 ALG14 ALG2 ALS2 ALX1 ALX3 AMPD1 AMPD3 ANO10 ANO5 ANXA11 AP3B2 AP4M1 AP5Z1 AR ARSI ARV1 ASAH1 ASH1L ASNS ASXL1 ASXL2 ATL1 ATL3 ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP5MC3 ATP6V0A2 ATP6V1A ATP7B ATRX B4GALNT1 BAG3 BAP1 BICD2 BIN1 BRAF BRAT1 BRF1 BSCL2 BTD BVES C19orf12 CACNA1A CACNA1B CACNA1G CACNA1S CACNA2D1 CADM3 CAMSAP1 CAPN1 CAPN3 CAV1 CAV3 CCDC8 CCND1 CCNF CD59 CDC42BPB CDK19 CELF2 CEP126 CFL2 CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CIDEC CLCN1 CLDN11 CLP1 CLTC CNKSR2 COA7 COG4 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ COMP COX20 COX6A1 CPLANE1 CPOX CPT1C CRPPA CRYAB CSGALNACT1 CUL7 CYFIP2 CYP27A1 CYP7B1 DAG1 DALRD3 DARS2 DCTN1 DDC DDHD1 DDHD2 DES DGUOK DHDDS DHPS DHTKD1 DHX16 DKK1 DMD DMXL2 DNA2 DNAJB2 DNAJB6 DNAJC12 DNAJC6 DNM1 DNM1L DNM2 DNMT3B DOCK6 DOK7 DPAGT1 DPH5 DPM3 DSTYK DYM DYNC1H1 DYSF EBP EEF1A2 EGR2 EIF2B2 EIF2B3 EIF4A3 ELOVL4 EMC1 EMD EMILIN1 EPHB4 ERCC1 ERCC6 ERCC8 ERGIC1 ERLIN2 EXTL3 EYA1 FA2H FAR1 FARS2 FBLN5 FBN1 FBN2 FBXO28 FBXO38 FBXW11 FDX2 FGD4 FGF12 FGF13 FGFR2 FHL1 FKRP FKTN FLI1 FLNA FLNB FLNC FRG1 FRMD4A FXN FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GALC GAN GARS1 GATA1 GBA2 GBF1 GCH1 GDAP1 GDAP2 GDF11 GFAP GFM2 GFPT1 GIPC1 GJB1 GMPPA GMPPB GNB1 GNB2 GNB4 GNE GPHN GRIK2 GRIN2D GRM7 GYG1 H4C5 HACD1 HACE1 HADHA HADHB HARS1 HCN1 HEATR3 HEXB HINT1 HK1 HMBS HNRNPA1 HNRNPDL HOXA13 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HYCC1 IBA57 IDUA IFIH1 IGHMBP2 INF2 ITGA7 ITPR3 JAG1 JAG2 KANSL1 KARS1 KAT6A KATNB1 KBTBD13 KCNA1 KCNA2 KCNB1 KCNJ10 KCNJ18 KCNJ2 KDM1A KDM5C KIDINS220 KIF1A KIF1B KIF5A KIFBP KLHL41 KLHL9 KPNA3 KY L1CAM LAMA2 LAMB2 LAMP2 LARGE1 LBR LDB3 LGI4 LIG3 LIMS2 LIPE LMNA LMOD3 LMX1B LPIN1 LRIF1 LRP12 LRP4 LRSAM1 LTBP4 LYST MAP3K20 MAP3K7 MAPT MARS1 MATR3 MB MCM3AP MED11 MEGF10 MFN2 MICU1 MINPP1 MLIP MME MORC2 MPV17 MPZ MRPS2 MT-ATP6 MT-CO1 MT-CO3 MT-TE MTAP MTHFR MTMR14 MTPAP MTRFR MTRR MTTP MUSK MYBPC1 MYF6 MYH14 MYH2 MYH7 MYL2 MYMK MYMX MYO9A MYOT MYPN NCAPD3 NDRG1 NDUFA9 NDUFC2 NEB NECAP1 NEFH NEFL NF1 NF2 NGLY1 NIPA1 NOTCH2NLC NTRK2 NUP54 NUP62 NUS1 OBSCN OBSL1 OPA1 ORAI1 OSTM1 PABPN1 PACS2 PARS2 PAX1 PAX3 PCCA PCCB PDGFB PDK3 PDXK PEX7 PHKA1 PHKB PHYH PI4KA PIEZO2 PIGA PIGN PIGP PIK3CA PLAA PLEC PLIN1 PLIN4 PLOD1 PLOD3 PLP1 PLXND1 PMP2 PMP22 PNKP PNPLA2 PNPLA6 PNPT1 PODXL POGLUT1 POLG POLG2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 POU3F4 PPARG PPOX PPP3CA PRDM13 PRNP PRORP PRPS1 PRR12 PRX PSAP PTPN11 PTS PUS1 PYCR2 PYROXD1 RAB7A RAD51C RAF1 RAI1 RAPSN RARS1 RASA1 RBM8A REEP1 REV3L RHOBTB2 RILPL1 RNASEH1 RNF170 RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRM2B RTN2 RYR1 RYR3 SACS SALL4 SARDH SBF1 SBF2 SCN3A SCN4A SCN8A SCO2 SCYL1 SCYL2 SDHA SDHAF1 SDHB SDHD SECISBP2 SELENON SEPSECS SEPTIN9 SGCA SGCB SGCD SGCG SH3TC2 SIGMAR1 SLC12A6 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A21 SLC25A4 SLC30A9 SLC31A1 SLC33A1 SLC35C1 SLC38A3 SLC39A13 SLC39A14 SLC52A2 SLC52A3 SLC5A6 SLC5A7 SLC6A3 SMARCB1 SMARCE1 SMCHD1 SMG9 SMN1 SMN2 SMO SMPX SNAP25 SORD SPART SPAST SPATA5 SPEG SPG11 SPG21 SPG7 SPR SPRED2 SPTLC1 SPTLC2 SQSTM1 SRPX2 SRY STIM1 SUFU SVBP SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TARS2 TBCE TBX3 TBX5 TCAP TDP1 TERT TFG TGFB3 TIA1 TIMM8A TK2 TMEM43 TNNT1 TNPO3 TNR TPM2 TPM3 TRAF7 TRAK1 TRAPPC11 TRIM2 TRIM32 TRIO TRIP4 TRPS1 TRPV4 TSEN15 TSEN2 TSEN34 TSEN54 TSR2 TTN TWNK TYMP UBA5 UBAP1 UBTF UFC1 UFSP2 UNC45B USP8 VAMP1 VAPB VCP VHL VMA21 VPS13A VPS13D VPS37A VWA1 WARS1 WARS2 WASHC5 WDR48 WWOX YARS1 YWHAG ZFYVE26 ZFYVE27 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS AAAS ABCD1 ADSS1 ANO10 ANO5 AR ATP13A2 BIN1 BSCL2 CAPN3 CAV3 CHCHD10 CIDEC CLCN1 CRPPA CRYAB DAG1 DARS2 DES DHX16 DKK1 DMD DNAJC6 DNM2 DPM3 DYNC1H1 DYSF EMD FBN2 FHL1 FKRP FKTN FLNC FRG1 GMPPA GMPPB GNE HACE1 HINT1 HNRNPDL KCNA1 KIF1A KIF5A KLHL9 LAMA2 LARGE1 LDB3 LIMS2 LMNA LMX1B LTBP4 MAP3K20 MATR3 MICU1 MT-ATP6 MTMR14 MYF6 MYH7 NEB NEFL PI4KA PLEC PLIN1 PMP22 PNPLA2 PODXL POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPARG RASA1 REEP1 RYR1 SACS SGCA SGCB SGCD SGCG SLC25A1 SMN1 SMN2 SPAST SPG11 SPTLC1 SRY SYNE1 SYNE2 SYNJ1 TCAP TMEM43 TRAPPC11 TRIM32 TRPV4 TTN UNC45B VAMP1 VAPB VCP VMA21 VPS13A WASHC5 ZFYVE26 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH ADSS1 ANO5 DYNC1H1 EMD FHL1 HNRNPDL LMNA LMX1B NEFL REEP1 RYR1 SGCD SMN1 SMN2 SPG11 SPTLC1 SYNE1 SYNE2 TMEM43 TRPV4 VMA21 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM DNM2 EMD FHL1 HNRNPDL LMNA LMX1B MORC2 MTMR14 SGCD SYNE1 SYNE2 TCAP TMEM43 TRPV4 HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS AAAS ABHD5 ACTA1 ADA2 ADSS1 AGRN AK9 ALG14 ALG2 ALS2 ALX1 ALX3 ANO5 ANXA11 ASH1L ATP6V0A2 BAG3 BICD2 BIN1 BRAF BSCL2 C19orf12 CADM3 CAPN3 CAV3 CCDC8 CEP126 CFL2 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CLDN11 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COMP CPLANE1 CPOX CRPPA CRYAB CSGALNACT1 CUL7 CYP7B1 DCTN1 DMD DNA2 DNAJB6 DNM1L DNM2 DOK7 DPAGT1 DSTYK DYSF EIF4A3 EMD EMILIN1 EYA1 FBLN5 FBN1 FBXO38 FBXW11 FGD4 FGFR2 FHL1 FKRP FKTN FLNA FLNB FLNC FRG1 FXN GALC GARS1 GATA1 GBF1 GDAP1 GDF11 GFPT1 GIPC1 GJB1 GMPPA GMPPB GNB4 GNE GYG1 HACD1 HARS1 HEATR3 HINT1 HK1 HMBS HNRNPDL HOXA13 HSPB1 HSPB3 IDUA INF2 ITGA7 ITPR3 JAG1 JAG2 KANSL1 KAT6A KBTBD13 KCNJ2 KIF1A KIF5A KLHL41 KLHL9 KY LAMA2 LAMB2 LDB3 LGI4 LIPE LMNA LMX1B LPIN1 LRIF1 LRP12 LRP4 MAP3K20 MAP3K7 MARS1 MATR3 MB MFN2 MORC2 MPZ MT-CO1 MT-CO3 MT-TE MTMR14 MTPAP MUSK MYBPC1 MYF6 MYH2 MYH7 MYL2 MYMK MYMX MYOT MYPN NDRG1 NEB NEFH NEFL NGLY1 NOTCH2NLC OBSCN OBSL1 OPA1 PAX1 PAX3 PDK3 PLEC PLIN4 PLOD3 PLXND1 PMP22 PNPLA2 POGLUT1 POLG POLG2 POMT1 POMT2 PPOX PRR12 PRX PSAP PTPN11 PUS1 PYROXD1 RAD51C RAF1 RAPSN RBM8A REEP1 REV3L RILPL1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRM2B RYR1 RYR3 SALL4 SBF2 SCN4A SELENON SEPSECS SEPTIN9 SGCA SGCB SGCD SGCG SIGMAR1 SLC12A6 SLC25A21 SLC25A4 SLC39A13 SLC52A3 SLC5A6 SMCHD1 SMN1 SMN2 SMPX SPEG SPG11 SPG7 SPRED2 SPTLC1 SQSTM1 STIM1 SVBP SYNE1 SYNE2 TBX3 TBX5 TCAP TFG TGFB3 TIA1 TIMM8A TK2 TMEM43 TNNT1 TNPO3 TNR TPM2 TPM3 TRAPPC11 TRIM2 TRIM32 TRIO TRPS1 TRPV4 TSEN15 TSEN2 TSEN34 TSEN54 TSR2 TTN TWNK VCP VPS37A VWA1 WARS1 YARS1 HP_ABNORMALITY_OF_THE_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NAIL AAGAB AARS1 ABCA1 ABCA12 ACAN ACD ACTG2 ACTL6B ACVRL1 ADAM17 ADAMTSL2 ADNP AFF4 AIP AIRE AKT1 ALDH3A2 ALG12 ALG3 ALOX12B ALOXE3 ANAPC1 ANGPT1 ANGPT2 ANTXR1 AP1B1 AP1S3 APC APC2 APCDD1 ARHGAP31 ARID1A ARID1B ARID2 ARX ASPRV1 ATL1 ATP2A2 ATP6V0A2 ATP6V1B2 ATR B3GALT6 BANF1 BAZ1B BCL7B BCR BHLHA9 BICRA BLM BMP2 BMP4 BMPER BMPR1B BRAF BUD23 CAMK2B CAMK2G CARD14 CARS1 CASK CASR CAST CCDC22 CCDC32 CD151 CD28 CDH1 CDH3 CDIN1 CDKL5 CDKN1C CDSN CEBPE CENPT CERS3 CKAP2L CLEC7A CLIP2 COL11A1 COL11A2 COL14A1 COL17A1 COL7A1 COX7B CPLX1 CPT2 CRKL CSTA CSTB CTBP1 CTC1 CTLA4 CTNND1 CTSC CTSK CWC27 CYB5A CYB5R3 CYP4F22 DCLRE1B DHX37 DKC1 DLK1 DLL4 DLX3 DMXL2 DNAJC21 DNAJC30 DOCK6 DPF2 DPH1 DPH2 DPM1 DPYD DPYSL5 DSC3 DSG1 DSG4 DSP DST DVL1 DVL3 DYNC2LI1 EBP ECE1 EDA EDAR EDARADD EED EFNB1 EGFR EIF4H EIF5A ELN ENG ENPP1 EOGT EPS8L3 ERCC2 ERCC3 EVC EVC2 EXT2 EZH2 FAM111B FBXO28 FERMT1 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP6 FLNA FLNB FLT4 FOCAD FOXC2 FOXN1 FOXP3 FRAS1 FTL FTO FUCA1 FZD2 FZD6 GDF5 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GLI1 GLI3 GNA11 GNAO1 GPC3 GPC4 GPR101 GRHL2 GRIN1 GRM7 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H3-3B HCCS HEPHL1 HGD HHAT HLA-B HLA-C HMGA2 HOXA13 HOXC13 HPGD HRAS HUWE1 HYMAI IFIH1 IFNG IFT122 IFT43 IFT52 IGF2 IHH IKBKG IL11RA IL17F IL17RA IL17RC IL36RN IL6ST INPPL1 INSR IRF6 ITGA3 ITGA6 ITGB4 JUP KANK2 KCNA1 KCNH1 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDSR KIF11 KIF15 KIF1A KLHL24 KMT2D KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT81 KRT83 KRT85 KRT86 KRT9 LAMA3 LAMB3 LAMC2 LETM1 LIG4 LIMK1 LIPH LIPN LMNA LMX1B LORICRIN LPAR6 LRP4 LSS MACROH2A1 MAF MAP2K1 MAP2K2 MAP3K20 MAPK1 MARS1 MBTPS2 MCTP2 MEG3 METTL27 MLXIPL MMP1 MPLKIP MSX1 MTX2 MVK MYOF NAF1 NCF1 NDUFB11 NECTIN1 NECTIN4 NEPRO NEUROD2 NFKB2 NFKBIA NHP2 NIPAL4 NLRP1 NOG NOP10 NOTCH1 NOTCH2 NPM1 NPR2 NSD1 NSD2 NSDHL NSUN2 NTRK1 NXN ODC1 ORC1 OTUD5 PARN PAX9 PDE4D PEPD PERP PEX1 PEX2 PEX6 PEX7 PGAP2 PGAP3 PHYH PI4KA PIEZO1 PIGA PIGB PIGF PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PITX1 PKP1 PLAG1 PLAGL1 PLCD1 PLEC PLOD3 PNKP PNPLA1 POC1A POFUT1 POGLUT1 POLR3A POMP POP1 PORCN PPM1D PPP1CB PPP2R5D PQBP1 PRKACA PRKACB PRKAR1A PRKD1 PRR12 PSENEN PTDSS1 PTEN RAB3GAP1 RAB3GAP2 RAB7A RAF1 RBBP8 RBCK1 RBPJ RECQL RECQL4 RERE RETREG1 RFC2 RIPK4 RLIM RNF113A RNF13 RNU12 RNU4ATAC ROR2 RPA1 RPL21 RPS6KA3 RSPO1 RSPO4 RTEL1 RTL1 RUNX2 SASH1 SATB2 SCN1B SCN2A SCN9A SCO2 SDR9C7 SET SETBP1 SETD2 SF3B1 SHANK3 SHOC2 SHOX SIAH1 SIK1 SIN3A SIN3B SLC24A4 SLC25A22 SLC25A24 SLC32A1 SLC35D1 SLC39A4 SLCO2A1 SLURP1 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SOST SOX11 SOX18 SOX4 SOX9 SPEN SREBF1 SRY ST14 STAMBP STAT3 STIM1 STING1 STK11 STX1A STXBP1 SULT2B1 SUZ12 TAF1 TARS1 TAT TBC1D24 TBL2 TBX3 TBX4 TCF4 TCTN3 TELO2 TERC TERT TET2 TFAP2A TGM1 TGM5 TINF2 TMEM222 TMEM270 TNFRSF1B TP53 TP63 TRAF3IP2 TRAF6 TREX1 TRIM8 TRPS1 TRPV3 TRRAP TSC1 TSC2 TSPAN7 TTC7A TWIST1 TWIST2 TYMS UBE2A UBR1 UFC1 UMPS UROD USB1 VAC14 VEGFC VPS35L VPS37D WASHC5 WDR19 WDR35 WDR73 WLS WNK1 WNT10A WNT5A WNT7A WRAP53 ZBTB20 ZIC3 ZMPSTE24 ZMYM2 ZNF141 ZNF462 ZSWIM6 HP_ABNORMALITY_OF_THE_NASAL_CAVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_CAVITY CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 GLMN NODAL PTCH1 SHH SIX3 SUFU TDGF1 TGIF1 ZIC2 HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION ATP6V0A2 ATP6V1A ATP6V1E1 CHST14 DSE FOXP1 GNB2 LTBP1 MAN1B1 MYBPC1 NAA10 NALCN NF1 PGM2L1 SNRPN SPRED2 TNNI2 TOR1A USP9X HP_ABNORMALITY_OF_THE_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NECK ABCC6 ABCC9 ACAN ACTA1 ACTB ACTG1 ACVR1 ADA2 ADARB1 ADAT3 AEBP1 AFF3 AGPAT2 AIFM1 AKT1 ALDH18A1 ALDH1A2 ALDOA ALG12 ALG8 ALG9 ALS2 AMER1 AMMECR1 ANKRD11 ANO3 ANTXR2 APC ARHGEF2 ARL6 ARSL ARVCF ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATRX B3GALT6 B3GAT3 B3GLCT B4GALT1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCR BLTP1 BMPER BPTF BRAF BRD4 BRF1 BSCL2 BUB1 BUB1B BUB3 BUD23 C2CD3 CACNA1A CANT1 CASZ1 CAV1 CAVIN1 CBL CCDC22 CCDC8 CCN6 CD96 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK5 CEP19 CEP290 CEP55 CEP57 CEP85L CFAP418 CFL2 CHD7 CHMP2B CHN1 CHRNA1 CHRND CHRNG CHST3 CIZ1 CLDN11 CLIP2 CLP1 CNOT3 CNP COG1 COG5 COG7 COL11A1 COL11A2 COL12A1 COL25A1 COL2A1 COL6A1 COL6A2 COL6A3 COLEC11 COMT COX20 CP CPLX1 CREBBP CRKL CRLF1 CSGALNACT1 CSPP1 CTBP1 CTNND2 CUL4B CUL7 CYP27A1 DCC DDC DDR2 DDRGK1 DDX3X DHCR7 DHPS DHX37 DKK1 DLK1 DLL3 DNAJC30 DOHH DOK7 DONSON DPYD DPYSL5 DRD2 DVL1 DVL3 DYM EBP ECEL1 EDEM3 EFNB1 EIF4H ELN EMD ENPP1 EP300 EPHB4 ERCC1 ERCC2 ERCC5 ERCC6 ERLIN2 ERMARD ESCO2 EXOC6B EXOSC9 EYA1 FAM20C FANCB FANCI FANCL FBLN5 FBN2 FBXW11 FGD1 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP6 FLI1 FLNA FLNB FLVCR2 FN1 FOS FOXC2 FOXE1 FOXF1 FOXP2 FREM2 FTO FUS FZD2 GABRA1 GABRA3 GABRD GABRG2 GALNS GATA1 GATA2 GATA4 GCH1 GDAP2 GDF3 GDF6 GJA5 GJA8 GLB1 GLE1 GNAL GNAS GNE GNPTG GNS GP1BB GPC3 GPC4 GPC6 GPKOW GPX4 GRIK2 GRN GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H4C5 HABP2 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HECTD4 HERC1 HES7 HESX1 HIRA HK1 HNF1B HNRNPK HNRNPR HPCA HPDL HRAS HS2ST1 HSPA9 HSPG2 HUWE1 HYLS1 IDH1 IDS IDUA IFT140 IFT172 IFT27 IFT43 IFT74 IGBP1 IGF1 IGF1R IL6ST IMPDH2 INPPL1 INTS1 INTU IRF3 IRX5 ITGA7 JMJD1C KAT6A KCNAB2 KCNC3 KCNH1 KCNJ8 KCNMA1 KCNN2 KCNN3 KCTD17 KDM4B KIAA0586 KIF1C KIF21A KIF26A KIF7 KIFBP KLHL41 KMT2A KMT2B KMT2D KNSTRN KRAS KRT5 LAMA5 LBR LETM1 LFNG LHX3 LHX4 LIFR LIMK1 LIPE LMNA LMOD3 LMX1B LRP1 LRPPRC LUZP1 LZTFL1 LZTR1 MADD MAFB MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MAPT MBD5 MCTP2 MECP2 MED12 MED13L MEFV MEG3 MEGF8 MEOX1 MESP2 METTL27 MGAT2 MICU1 MINPP1 MKKS MKS1 MLXIPL MMP23B MPL MRAS MRPL12 MRPS16 MRPS22 MRPS28 MSL3 MUSK MYF5 MYH3 MYH7 MYL11 MYO18B MYOD1 NAA10 NALCN NANS NAXE NBAS NBN NCF1 NDE1 NDUFB10 NDUFS3 NEB NEK9 NELFA NF1 NFIX NIPBL NKX2-1 NKX3-2 NKX6-2 NLRP1 NOG NOTCH2 NOTCH3 NPHP1 NR4A2 NRAS NSD2 NUP188 NUP88 NXN OBSL1 ODC1 OTUD5 OTUD6B PAFAH1B1 PAICS PALB2 PAM16 PCDH19 PCGF2 PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PHF8 PHGDH PHOX2A PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PKDCC PLXNA1 PLXND1 PNKD POFUT1 POGLUT1 POGZ POLE POLR1B POLR1C POLR1D POLR3A POP1 POU1F1 PPARG PPP1CB PPP1R15B PPP2R5D PRDM16 PRDX3 PRKAR1B PRKCZ PRKRA PRMT7 PROP1 PRRT2 PSAT1 PSEN1 PSENEN PSMD12 PTCH1 PTCH2 PTEN PTPN11 PUF60 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAB5IF RAD21 RAF1 RAPSN RASA2 RB1 RDH11 RERE RFC2 RFT1 RFX7 RIPK4 RIPPLY2 RIT1 RMRP RNF170 RNU4ATAC ROBO3 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPRY1 RTL1 RYR1 SALL4 SATB2 SCAPER SCLT1 SCN1A SCN1B SCN2A SCN4A SCN9A SCNM1 SCP2 SCYL2 SDCCAG8 SEC24C SELENON SEMA5A SETBP1 SF3B2 SGCE SH3PXD2B SHOC2 SHOX SIGMAR1 SIN3A SIX1 SIX5 SKI SLC18A3 SLC25A24 SLC26A2 SLC2A1 SLC31A1 SLC35A1 SLC35A2 SLC35D1 SLC39A13 SMAD4 SMARCA2 SMARCAL1 SMARCD1 SMC1A SMC3 SMPD4 SMS SNRPB SNRPN SOS1 SOS2 SOX10 SOX9 SPEN SPG11 SPRED1 SPRED2 SPTBN1 SPTLC1 SQSTM1 SRCAP SRY STAG1 STX16 STX1A STXBP1 SUFU SUPT16H SVIL SYNGAP1 TAF1 TALDO1 TAPT1 TASP1 TBC1D24 TBCK TBK1 TBL1XR1 TBL2 TBP TBR1 TBX1 TBX15 TBX2 TBX6 TCF4 TCOF1 TCTN2 TECPR2 TFAP2A TGDS TGFB2 TGM6 THAP1 THPO TICAM1 TIMM50 TLR3 TMCO1 TMEM106B TMEM151A TMEM216 TMEM260 TMEM270 TMEM94 TNNI2 TNNT3 TOGARAM1 TOR1A TPM2 TRAF3 TRAF7 TRAPPC2 TRAPPC9 TREM2 TRIM32 TRIP11 TRIP13 TRMT10A TRPM3 TRPV4 TSR2 TTC8 TTN TUBA1A TUBB TUBB2B TUBB3 TUBB4A TWIST1 TXNDC15 UBE2A UBE4B UFD1 UNC80 UNC93B1 USB1 VAC14 VCP VPS11 VPS13D VPS16 VPS33A VPS35L VPS37D VPS51 WAC WASHC5 WBP11 WDPCP WDR35 WDR37 WDR81 WNT4 WNT5A WNT7A XYLT1 XYLT2 YWHAE ZC4H2 ZMPSTE24 ZMYM2 ZNF142 ZNF699 HP_ABNORMALITY_OF_THE_ORBITAL_REGION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ORBITAL_REGION AARS1 AASS ABAT ABCA1 ABCA12 ABCA5 ABCC9 ABCG8 ABHD5 ABL1 ACER3 ACOX1 ACSL4 ACTB ACTG1 ACTL6B ACVRL1 ADA ADA2 ADAM17 ADAMTS10 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADARB1 ADAT3 ADH5 ADNP AEBP1 AFF2 AFF3 AFF4 AGO1 AGO2 AGR2 AHDC1 AHI1 AHSG AIFM1 AIP AIRE AKT1 AKT3 ALDH1A2 ALDH1A3 ALDH6A1 ALDOA ALG12 ALG14 ALG2 ALG3 ALG9 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANAPC1 ANGPT2 ANK1 ANKH ANKLE2 ANKRD11 ANKRD17 ANO10 ANO3 ANTXR1 AP1B1 AP1G1 AP1S1 AP3B1 AP3B2 AP4E1 APC APC2 APCDD1 APOA1 APOA2 APOB APOE APTX ARCN1 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARPC1B ARV1 ARVCF ARX ASAH1 ASH1L ASPH ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATAD3A ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATR ATRIP ATRX AUTS2 AXIN2 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL10 BCL11A BCL11B BCL7B BCOR BCORL1 BCR BGN BICRA BIRC3 BLM BLNK BLTP1 BMP1 BMP2 BMP4 BMPER BMPR1A BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BTD BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C12orf4 C12orf57 C2CD3 C4A CACNA1A CACNA1B CACNA1C CACNA1G CACNA2D1 CAMK2A CAMK2G CAMKMT CAMTA1 CANT1 CARD14 CARS1 CASK CASZ1 CBL CBY1 CC2D2A CCBE1 CCDC115 CCDC22 CCDC32 CCDC47 CCDC8 CCDC88A CCND1 CCND2 CCNK CCNQ CCR1 CD151 CD19 CD28 CD79A CD79B CD96 CDC42 CDC42BPB CDC45 CDCA7 CDH1 CDH11 CDH2 CDH3 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDKL5 CDON CDSN CELF2 CENPE CENPJ CENPT CEP104 CEP120 CEP135 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CEP63 CERS3 CERT1 CFAP418 CHAMP1 CHD1 CHD3 CHD4 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CIT CKAP2L CLCN1 CLCN3 CLCN4 CLCN6 CLCN7 CLDN1 CLIP2 CLP1 CLTC CLTCL1 CNKSR2 CNOT1 CNOT2 CNOT3 CNTNAP1 CNTNAP2 COA3 COG1 COG6 COG7 COG8 COL11A1 COL11A2 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL3A1 COL5A1 COL5A2 COL7A1 COL9A3 COLEC10 COLEC11 COMT COPB1 COPB2 COQ4 COX5A COX7B CP CPLANE1 CPLX1 CR2 CREBBP CRIPT CRKL CRTAP CSF1R CSGALNACT1 CSNK2A1 CSPP1 CST6 CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNND1 CTNND2 CTSA CTU2 CUL4B CUL7 CUX1 CWC27 CWF19L1 CYFIP2 CYP27A1 CYP4F22 DACT1 DALRD3 DCAF17 DCHS1 DCLRE1C DDB1 DDB2 DDC DDHD2 DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHODH DHX16 DHX30 DIS3L2 DKC1 DLG3 DLK1 DLST DLX4 DMXL2 DNA2 DNAJC21 DNAJC30 DNASE1L3 DNM1 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOK7 DOLK DONSON DPF2 DPH1 DPH2 DPH5 DPM1 DPP9 DPYD DPYSL5 DRD5 DSC3 DSE DSG4 DSP DUX4 DUX4L1 DVL1 DVL3 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP ECEL1 EDA EDA2R EDAR EDARADD EDEM3 EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EGFR EHMT1 EIF2AK3 EIF4H EIF5A ELN EMC10 ENG EP300 EPG5 EPHX2 EPS8L3 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 ESS2 ETFA ETFB ETFDH EXOC2 EXOC8 EXOSC1 EXOSC2 EXOSC9 EXT1 EXT2 EYA1 EZH2 FAM111B FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FAT4 FBLN5 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FDFT1 FERMT1 FGD1 FGF10 FGF12 FGF13 FGF20 FGF3 FGF5 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIBP FIG4 FKBP14 FKBP6 FLCN FLI1 FLII FLNA FLNB FLT4 FOCAD FOXC1 FOXC2 FOXG1 FOXL2 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FTL FTSJ1 FUCA1 FZD2 FZR1 G6PC1 GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRD GABRG2 GAD1 GALNT2 GALNT3 GATA1 GATA2 GATA4 GATAD2B GBA1 GDF11 GDF2 GFRA1 GHR GJA1 GJA5 GJA8 GJB2 GJB6 GJC2 GLA GLE1 GLI3 GLIS3 GMNN GNAQ GNAS GNB2 GNE GNPTAB GNS GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPRASP2 GPT2 GREB1L GRIA1 GRIA3 GRIN2D GRIP1 GSC GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB H1-4 H3-3A H4C11 H4C3 H4C5 H4C9 HBA1 HBA2 HBB HCCS HCN1 HDAC4 HDAC8 HEATR3 HECTD4 HECW2 HELLS HEPHL1 HERC1 HERC2 HGSNAT HHAT HIBCH HIC1 HID1 HIRA HIVEP2 HK1 HLA-B HLA-DRB1 HLCS HMGA2 HMOX1 HMX1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXB1 HOXC13 HPCA HPDL HR HRAS HRURF HS2ST1 HS6ST2 HSD17B4 HSPA9 HSPG2 HUWE1 HYLS1 HYMAI IARS2 ICOS IDH1 IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGBP1 IGF1R IGHM IGLL1 IGSF3 IKZF1 IL10 IL11RA IL12A IL12A-AS1 IL1RAPL1 IL23R IL2RG IL6ST IL7R INPP5E INPPL1 INTS1 IPO8 IQSEC2 IRF6 IRX5 ITGA3 ITGA6 ITGA8 ITGB4 ITGB6 JAG1 JARID2 JMJD1C JUP KANK2 KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA2 KCNAB2 KCNB1 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KCTD17 KDF1 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIF11 KIF14 KIF15 KIF1A KIF1B KIF21A KIF26A KIF7 KIFBP KIT KITLG KLF13 KLLN KLRC4 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KNSTRN KPTN KRAS KREMEN1 KRT1 KRT10 KRT14 KRT17 KRT25 KRT4 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LARP7 LAS1L LBR LDHD LDLR LEMD2 LEMD3 LETM1 LIFR LIG1 LIG3 LIG4 LIMK1 LIPH LIPN LMBRD1 LMBRD2 LMNA LMNB1 LMX1B LONP1 LPAR6 LPL LRBA LRP1 LRP2 LRP4 LRPPRC LRRC8A LSM11 LSS LTBP1 LTBP3 LTV1 LUZP1 LZTFL1 LZTR1 MAB21L1 MAB21L2 MACF1 MAD2L2 MADD MAF MAFB MAGEL2 MALT1 MAN1B1 MAN2B1 MAN2C1 MANBA MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MAPT MARS1 MASP1 MATR3 MAX MBD5 MBTPS2 MC1R MCM7 MCPH1 MCTP2 MDH2 MECP2 MECR MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEFV MEG3 MEGF8 MEIS2 MESD METTL27 METTL5 MFSD2A MGAT2 MICU1 MID1 MINPP1 MITF MKKS MKRN3 MKS1 MLPH MLXIPL MMP1 MMP14 MMP2 MMP23B MN1 MOGS MPC1 MPDZ MPLKIP MRAS MRPL12 MRPS2 MSH6 MSL3 MSMO1 MTHFS MTOR MTSS2 MTTP MTX2 MUSK MVK MYCN MYH3 MYL11 MYMK MYMX MYO5A MYOD1 NAA10 NAA20 NAGA NAGLU NALCN NANS NARS1 NBAS NBN NCAPD3 NCAPG2 NCDN NCF1 NDN NDST1 NDUFB11 NDUFS4 NECAP1 NECTIN1 NECTIN4 NEK1 NEK9 NELFA NEPRO NEXMIF NF1 NF2 NFIA NFIB NFIX NGLY1 NHP2 NIPAL4 NIPBL NLRP1 NLRP3 NMNAT1 NOD2 NOG NONO NOP10 NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NPM1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NTRK2 NUAK2 NUDT2 NUP188 NUP37 NUP85 NUS1 NXN OBSL1 OCA2 OCRL ODC1 OFD1 OGDHL OGT ORC1 ORC6 OSGEP OTUD5 OTUD6B OTX2 P4HB PACS1 PACS2 PAFAH1B1 PAH PAK2 PAK3 PALB2 PANK2 PARK7 PARN PARS2 PAX1 PAX2 PAX3 PBX1 PCDHGC4 PCGF2 PCLO PCNA PCNT PCSK9 PDCD6IP PDE11A PDE4D PDE6D PDGFRB PDHX PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PGM3 PHC1 PHF21A PHF6 PHF8 PHGDH PHIP PHOX2A PHOX2B PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGB PIGG PIGK PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PKDCC PKHD1 PKP1 PLA2G6 PLAGL1 PLCD1 PLEC PLG PLK4 PLOD1 PLOD3 PLPBP PLXNA1 PLXND1 PMM2 PNPLA1 PNPLA6 POGZ POLA1 POLG POLH POLR1A POLR1B POLR1C POLR1D POLR3A POLR3GL POLRMT POU3F3 POU4F1 PPM1B PPP1CB PPP1R12A PPP1R15B PPP1R17 PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM13 PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCZ PRKD1 PRKG2 PRMT7 PRORP PRPS1 PRR12 PRRX1 PSAT1 PSMB4 PSMB8 PSMB9 PSMC1 PSMC3 PSMD12 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PTPRF PUF60 PURA PUS1 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QARS1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RAPSN RASA2 RAX RB1 RBBP8 RBL2 RBM10 RBMX RBPJ RDH11 RECQL RECQL4 RERE RET REV3L RFC2 RFWD3 RFX7 RHOA RHOBTB2 RIC1 RIN2 RIPK4 RIT1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF135 RNF168 RNF2 RNU12 RNU4ATAC RNU7-1 ROBO1 ROR2 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL21 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPRY1 RTEL1 RTL1 RTTN RUSC2 RYR1 RYR3 SALL1 SALL4 SAMD9 SAMHD1 SARS1 SASH1 SASS6 SATB1 SATB2 SC5D SCAPER SCARF2 SCLT1 SCN3A SCN4A SCN8A SCN9A SCNM1 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC24D SEC31A SEMA3E SEMA5A SEPTIN9 SERPINH1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SETX SF3B2 SF3B4 SGSH SH3BP2 SH3PXD2B SHANK3 SHMT2 SHOC2 SHPK SHROOM4 SIAH1 SIM1 SIN3A SIX1 SIX2 SIX5 SKI SKIC3 SLC13A5 SLC17A5 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A11 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC30A9 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC39A13 SLC39A4 SLC39A7 SLC3A1 SLC45A1 SLC6A17 SLC6A9 SLC9A6 SLC9A7 SLCO1B1 SLCO1B3 SLF2 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMO SMOC1 SMPD4 SMS SNAI2 SNAP29 SNORD115-1 SNORD116-1 SNRPB SNRPE SNRPN SNX14 SON SOS1 SOS2 SOX10 SOX11 SOX18 SOX4 SOX5 SOX6 SOX9 SPART SPATA5 SPATA5L1 SPECC1L SPEN SPI1 SPINK5 SPOP SPRED1 SPRED2 SPTBN1 SRCAP SREBF1 SRY ST14 STAC3 STAG1 STAG2 STARD7 STAT4 STEEP1 STIL STRA6 STRADA STT3A STX11 STX16 STX1A STXBP1 SUFU SULT2B1 SUMF1 SUPT16H SUZ12 SVBP SYNGAP1 SYNJ1 SYT1 SZT2 TACSTD2 TAF1 TAF13 TAF6 TALDO1 TAPT1 TARS1 TASP1 TBC1D24 TBC1D2B TBCD TBCK TBL1XR1 TBL2 TBP TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX6 TCF20 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENM3 TENT5A TERC TERT TET3 TFAP2A TFAP2B TFE3 TFRC TGDS TGFB2 TGFB3 TGFBI TGM1 THAP1 THOC6 THUMPD1 TIMM50 TINF2 TKT TLK2 TLR4 TMCO1 TMEM107 TMEM127 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM94 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNNI2 TNRC6B TOE1 TOGARAM1 TONSL TOPORS TOR1A TP63 TPRKB TRAF3IP2 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC14 TRAPPC9 TREX1 TRIM32 TRIM8 TRIO TRIP12 TRIP13 TRMT1 TRMT10A TRPM3 TRPS1 TRRAP TSC1 TSC2 TSPEAR TSR2 TTC26 TTC5 TTC7A TTC8 TTI2 TTPA TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNL4A TYMP TYMS TYR TYRP1 UBA5 UBAC2 UBE2A UBE2T UBE3A UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UGDH UGP2 UMPS UNC80 UQCC2 UROD UROS USB1 USF3 USP9X VAC14 VAMP1 VARS1 VDR VHL VPS13A VPS13B VPS33A VPS35L VPS37D VPS51 VPS53 WAC WARS1 WAS WASF1 WASHC4 WASHC5 WDPCP WDR19 WDR26 WDR35 WDR37 WDR4 WDR62 WDR73 WIPF1 WLS WNT10A WNT10B WNT4 WNT5A WNT7A WNT9B WRAP53 WT1 WWOX XPA XPC XPNPEP2 XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YARS2 YWHAE YWHAG YY1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZFHX4 ZIC1 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF407 ZNF423 ZNF462 ZNF469 ZNF526 ZNF699 ZNF711 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMALITY_OF_THE_OUTER_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OUTER_EAR AARS1 AASS ABCA12 ABCC6 ABCC8 ABHD5 ACAN ACBD5 ACER3 ACOX1 ACP5 ACTA1 ACTB ACTG1 ACTG2 ADA2 ADAM17 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAR ADAT3 ADGRG6 ADNP ADSL AEBP1 AFF2 AFF3 AFF4 AGA AGO1 AGO2 AGPAT2 AGRN AHDC1 AHI1 AHSG AIFM1 AIP AKT1 ALDH18A1 ALDH1A2 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANAPC7 ANK1 ANKRD11 ANO1 ANTXR1 ANTXR2 AP1G1 AP1S2 AP3B1 AP3D1 AP4E1 APC ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASH1L ASNS ASPRV1 ASXL1 ASXL2 ASXL3 ATIC ATN1 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRIP ATRX AUTS2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL11B BCL7B BCOR BCR BHLHA9 BICD2 BICRA BIN1 BLM BLNK BLTP1 BMP1 BMP2 BMP4 BMPER BMPR1A BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BUB1 BUB1B BUB3 BUD23 C12orf57 C2CD3 CA2 CACNA1C CACNA1G CACNA2D1 CAMK2A CAMK2G CAMKMT CAMTA1 CANT1 CAPN15 CARS1 CASK CASZ1 CAV1 CBL CBY1 CC2D2A CCBE1 CCDC22 CCDC32 CCDC47 CCDC8 CCNK CCNQ CD79A CD79B CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDK10 CDK13 CDKN1C CDT1 CENPE CENPF CENPJ CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CFAP418 CHAMP1 CHAT CHD3 CHD4 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CIT CLCF1 CLCN3 CLCNKA CLCNKB CLIC2 CLIP2 CLTC CNOT1 CNOT2 CNOT3 CNTNAP1 COG1 COG5 COG7 COL11A1 COL11A2 COL13A1 COL2A1 COL3A1 COL4A1 COL5A1 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLEC11 COMT COX7B CPE CPLANE1 CPLX1 CPOX CPT2 CREBBP CRKL CRLF1 CRPPA CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTH CTNND2 CTSD CTU2 CUL4B CUL7 CUX1 CWC27 CYP4F22 DACT1 DAG1 DCAF17 DCHS1 DCPS DDB1 DDR2 DDX11 DDX3X DDX59 DDX6 DENND5A DHCR24 DHCR7 DHODH DHPS DHX16 DHX30 DHX37 DIS3L2 DLK1 DLL3 DLX4 DLX5 DNA2 DNAJC21 DNAJC30 DNM1 DNMT3B DOCK6 DOCK7 DOK7 DONSON DPF2 DPH1 DPH2 DPP6 DPYD DPYSL5 DSE DSP DST DVL1 DVL3 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP ECE1 EDEM3 EDN1 EDNRA EED EEF1A2 EFEMP2 EFL1 EFTUD2 EGFR EHMT1 EIF2S3 EIF3F EIF4A3 EIF4H EIF5A ELN EMC1 ENPP1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 ETFA ETFB ETFDH EVC EVC2 EXOC2 EXOC7 EXOSC2 EXOSC9 EXT1 EXT2 EYA1 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXO11 FBXW11 FDFT1 FGD1 FGF10 FGF20 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FKBP6 FKRP FKTN FLI1 FLNA FLNB FMR1 FN1 FOXF1 FOXG1 FOXL2 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 FTSJ1 FUCA1 FZD2 GABRA3 GABRD GAD1 GALNT2 GATA1 GATA4 GBA1 GDF11 GFRA1 GJA1 GJA5 GJA8 GJB3 GJB4 GK GLB1 GLE1 GLI2 GLI3 GLIS3 GLUL GMNN GNAI3 GNB1 GNB2 GNE GNS GON7 GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPRASP2 GPT2 GPX4 GRB10 GREB1L GRIA3 GRIA4 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H19 H3-3A H4C3 H4C5 H4C9 HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HECW2 HELLS HERC1 HES7 HHAT HIRA HIVEP2 HMGA2 HMGB3 HMX1 HNRNPH1 HNRNPK HOXA13 HOXA2 HOXB1 HOXD13 HRAS HS2ST1 HS6ST2 HSD17B4 HSPA9 HSPG2 HUWE1 HYLS1 HYMAI IDH1 IFIH1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IFT81 IGBP1 IGF1R IGF2 IGHM IGLL1 IL1RAPL1 IL6ST INPP5E INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IREB2 IRX5 ITCH ITGA3 ITGA6 ITGA8 ITGB4 ITGB6 JAG1 JARID2 JMJD1C JUP KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNAB2 KCNH1 KCNJ1 KCNJ11 KCNJ2 KCNJ5 KCNK4 KCNK9 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KCTD1 KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDSR KIAA0586 KIAA0753 KIF11 KIF14 KIF15 KIF1A KIF21A KIF26A KIF7 KIFBP KLF13 KLHL40 KLHL41 KMT2A KMT2B KMT2C KMT2D KNSTRN KRAS KYNU LAGE3 LARGE1 LARP7 LAS1L LBR LETM1 LFNG LGI4 LIFR LIG4 LIMK1 LIPN LMBRD1 LMBRD2 LMNA LMNB1 LMOD3 LMX1B LONP1 LRP2 LRP4 LRPPRC LRRC8A LSM11 LSS LUZP1 LZTFL1 LZTR1 MAB21L1 MACF1 MAD1L1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MARS2 MASP1 MBD5 MBTPS1 MBTPS2 MCM5 MCTP2 MECP2 MED12 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEOX1 MESD MESP2 METTL27 METTL5 MGAT2 MGP MID1 MID2 MINPP1 MITF MKKS MKS1 MLXIPL MMACHC MMP23B MN1 MPDZ MPLKIP MRAS MRPL12 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRTFA MSL3 MSX2 MTHFR MUSK MVK MYCN MYH3 MYMX MYO18B MYO9A MYOD1 MYSM1 NAA10 NAA20 NALCN NANS NARS1 NARS2 NBN NCF1 NDE1 NDP NDST1 NDUFB11 NEB NECTIN1 NEK1 NEK9 NELFA NEU1 NEXMIF NF1 NFIA NFIX NGLY1 NHS NIN NIPA1 NIPA2 NIPAL4 NIPBL NKAP NOTCH2 NOTCH3 NPHP1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NTNG2 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCLN OCRL ODC1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTX2 PACS1 PAFAH1B1 PAH PAICS PAK1 PAK3 PALB2 PAM16 PAX1 PAX7 PBX1 PCDHGC4 PCGF2 PCLO PCNT PDE4D PDE6D PDPN PDZD8 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PGM2L1 PHACTR1 PHF6 PHGDH PHIP PHOX2B PIBF1 PIEZO1 PIEZO2 PIGA PIGB PIGG PIGK PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CD PIK3R1 PITX1 PKHD1 PLAA PLAG1 PLAGL1 PLCB4 PLCH1 PLEC PLK4 PLOD1 PLOD3 PLVAP PLXNA1 PLXND1 PMM2 PNPLA6 POC1A POGZ POLA1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU3F3 POU4F1 PPM1B PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R3C PPP2R5D PQBP1 PRDM16 PRDX1 PREPL PRIM1 PRKAR1B PRKCZ PRKDC PRKG2 PRPS1 PRR12 PRRX1 PRUNE1 PSAT1 PSMB8 PSMC3 PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPRF PUF60 PUM1 PURA PUS7 PYCR1 PYCR2 QARS1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RALA RALGAPA1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RBMX RDH11 RECQL RECQL4 RELN RERE RET RFC2 RFWD3 RFX7 RHOBTB2 RIC1 RIPK4 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF2 RNU4ATAC RNU7-1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUSC2 RXYLT1 RYR1 SALL1 SALL4 SAMHD1 SATB1 SATB2 SBDS SCAPER SCARF2 SCLT1 SCN4A SCNM1 SCYL2 SDCCAG8 SDR9C7 SEC24C SEMA3E SEMA5A SEPTIN9 SET SETBP1 SETD1A SETD5 SF3B2 SF3B4 SH3PXD2B SHANK3 SHOC2 SIAH1 SIM1 SIN3A SIX1 SIX2 SIX5 SKI SKIC3 SLC12A2 SLC12A6 SLC16A2 SLC18A3 SLC1A4 SLC25A1 SLC25A12 SLC25A24 SLC26A2 SLC2A1 SLC2A10 SLC35C1 SLC37A4 SLC39A7 SLC39A8 SLC3A1 SLC5A7 SLC6A17 SLC6A8 SLC6A9 SLC9A6 SLF2 SLX4 SMAD2 SMAD4 SMARCA2 SMARCD1 SMARCD2 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMG9 SMOC1 SMPD4 SMS SNAP25 SNAP29 SNRPB SOD1 SON SOS1 SOS2 SOST SOX11 SOX4 SOX5 SOX6 SOX9 SP7 SPART SPECC1L SPEG SPEN SPI1 SPINT2 SPOP SPRED1 SPRED2 SPTBN1 SRCAP SRD5A3 SRP54 SRY SSR4 STAC3 STAG1 STAG2 STAMBP STEEP1 STRA6 STT3A STX1A STXBP1 SUFU SULT2B1 SUOX SUPT16H SUZ12 SYNE1 SYNGAP1 SYT2 TAB2 TAF1 TAFAZZIN TALDO1 TAOK1 TAPT1 TARS1 TASP1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TCF20 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TENM3 TET3 TFAP2A TFAP2B TFE3 TGDS TGFB3 TGM1 THOC2 THUMPD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TMEM94 TNNI2 TNNT3 TNPO2 TOE1 TOGARAM1 TOPORS TOR1A TP53RK TP63 TPM2 TPM3 TPRKB TRAF7 TRAIP TRAPPC9 TREX1 TRIM32 TRIO TRIP11 TRIP12 TRIP13 TRMT1 TRMT10A TRPS1 TRPV4 TRPV6 TRRAP TSHZ1 TSPEAR TSR2 TTC26 TTC5 TTC8 TTI2 TTN TUBA1A TUBB TUBB3 TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBA2 UBE2A UBE2T UBE3B UBE4B UBR7 UFC1 UFD1 UGDH UGP2 UMPS UNC80 UPF3B UQCRH USP7 USP9X VAC14 VAMP1 VANGL2 VARS1 VIPAS39 VPS13B VPS33B VPS35L VPS37A VPS37D VPS51 VPS53 VSX1 WAC WARS1 WARS2 WASHC4 WASHC5 WBP11 WDPCP WDR19 WDR35 WDR37 WDR4 WDR73 WFS1 WLS WNT3 WNT4 WNT5A WNT7A WNT7B WNT9B XRCC2 XYLT1 XYLT2 YME1L1 YRDC YWHAE YY1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF407 ZNF423 ZNF462 ZNF526 ZNF668 ZNF699 ZNF711 ZNHIT3 HP_ABNORMALITY_OF_THE_OVARY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OVARY AGPAT2 AKT1 AKT2 ALG9 ALMS1 ANTXR2 AR ARL6 ATM BARD1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BMP15 BMPR1A BNC1 BRCA1 BRCA2 BRIP1 BSCL2 BUD23 C14orf39 CAV1 CAVIN1 CBX2 CCDC28B CDH1 CDKN2A CEP19 CEP290 CFAP418 CHD7 CHEK2 CIDEC CLIP2 CLPP CORIN CTNNB1 CYB5A CYP11B1 CYP17A1 CYP19A1 DCAF17 DHH DHX37 DICER1 DMRT1 DMRT3 DNAJC30 DUSP6 EIF4H ELN EPCAM ERAL1 ERBB2 ESR1 EWSR1 F7 FAN1 FGF17 FGF8 FGFR1 FGFR2 FIGLA FKBP6 FLI1 FLT1 FOS FOXE1 FOXL2 FSHR GATA4 GNAS GNRH1 GNRHR GTF2I GTF2IRD1 GTF2IRD2 HARS2 HFM1 HNF1A HS6ST1 IDH1 IDH2 IFT172 IFT27 IFT74 INSR KEAP1 KISS1 KISS1R KLLN KRAS LARS2 LEP LEPR LHB LIMK1 LIPE LMNA LMNB2 LZTFL1 MAP3K1 MBD4 MCM8 MDM2 METTL27 MID1 MKKS MKS1 MLH1 MLH3 MLXIPL MMP14 MMP2 MRE11 MRPS22 MSH2 MSH3 MSH4 MSH6 MSX1 MT-CYB MYC NBN NCF1 NDNF NHLH2 NOBOX NPHP1 NR0B1 NR5A1 NSMF NTHL1 NUP107 OFD1 OPCML PALB2 PALLD PANX1 PATL2 PAX6 PDE11A PHKA2 PHKB PHKG2 PIK3CA PIK3R1 PLG PLIN1 PMM2 PMS1 PMS2 POLR3H POR PPARG PPP1R12A PRKAR1A PRKN PRLR PROK2 PROKR2 PSMC3IP PTCH1 PTEN PTPN11 RABL3 RAD50 RAD51 RAD51C RAD51D RELA RFC2 RNF43 RPS20 SCAPER SCLT1 SDCCAG8 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SETD2 SLC37A4 SMAD4 SOX3 SOX9 SPIDR SPRED1 SPRY4 SRY STAG3 STK11 STOX1 STX1A TAC3 TACR3 TBL2 TBX1 TGFBR2 TMEM270 TP53 TP63 TRIM32 TRPV6 TTC8 TUBB8 USF3 VAMP7 VPS37D WDPCP WDR11 WEE2 WNT10A WNT4 WRN WT1 WWOX ZFPM2 ZFTA ZPR1 ZSWIM7 HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES AARS1 ABAT ABCA5 ABL1 ACSL4 ACTB ACTG1 ACTL6B ADAMTS2 ADAMTS3 ADAMTSL2 ADARB1 ADAT3 ADNP AFF3 AFF4 AGO1 AGO2 AGR2 AHDC1 AKT1 ALDH1A2 ALDH1A3 ALDH6A1 ALG14 ALG2 ALX4 AMMECR1 AMPD2 ANK1 ANKLE2 ANKRD11 ANKRD17 AP1S1 AP3B1 AP3B2 AP4E1 APC APC2 ARCN1 ARHGEF2 ARID1B ARID2 ARL6 ARV1 ARVCF ARX ASPH ASPM ASXL1 ASXL3 ATAD3A ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 B3GAT3 B3GLCT B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL11B BCL7B BCOR BCORL1 BCR BGN BICRA BLTP1 BMP1 BMP2 BMPR1A BPTF BRAF BRCA1 BRCA2 BRF1 BRIP1 BRPF1 BUB1 BUB1B BUB3 BUD23 C12orf57 C2CD3 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2A CAMK2G CAMTA1 CASK CBL CCDC115 CCDC22 CCDC32 CCDC47 CCNK CD96 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CELF2 CENPE CENPJ CENPT CEP135 CEP152 CEP19 CEP290 CEP55 CEP57 CEP63 CERT1 CFAP418 CHAMP1 CHD1 CHD4 CHD5 CHD7 CHD8 CHN1 CHRNA7 CHRNG CHST14 CHST3 CIT CKAP2L CLCN3 CLCN4 CLIP2 CLP1 CLTC CLTCL1 CNKSR2 CNOT2 CNOT3 CNTNAP2 COG1 COG7 COL11A1 COL11A2 COL25A1 COL3A1 COL5A1 COL9A3 COLEC10 COLEC11 COMT COPB1 COPB2 CPLX1 CREBBP CRKL CRTAP CSGALNACT1 CTBP1 CTNND2 CTU2 CUL4B CUX1 CWC27 CYFIP2 DACT1 DALRD3 DCHS1 DDB1 DDR2 DDX3X DDX59 DDX6 DEAF1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHODH DHX30 DLG3 DLK1 DLX4 DMXL2 DNA2 DNAJC21 DNAJC30 DNM1 DNMT3A DOCK3 DOCK6 DOK7 DONSON DPF2 DPH1 DPH2 DPH5 DPM1 DPP9 DPYD DPYSL5 DSE DVL1 DVL3 DYNC1H1 DYNC1I2 DYNC2LI1 DYRK1A EBF3 EBP EDEM3 EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EHMT1 EIF2AK3 EIF4H EIF5A ELN EP300 ERCC1 ERCC4 ERCC6 ERMARD ESCO2 ESS2 EXOC2 EXOSC2 EZH2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN5 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FGD1 FGF12 FGF13 FGF3 FGFR1 FGFR2 FGFR3 FHL1 FIBP FIG4 FKBP6 FLCN FLI1 FLII FLNA FOXG1 FOXL2 FOXP1 FOXP2 FRA10AC1 FREM1 FTSJ1 FZD2 FZR1 GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GAD1 GALNT2 GATA1 GATA4 GATAD2B GJA1 GJA5 GJA8 GLE1 GLI3 GMNN GNB2 GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GRIN2D GSC GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C11 H4C3 H4C5 H4C9 HBA1 HBA2 HBB HCN1 HDAC4 HEATR3 HECTD4 HERC1 HERC2 HHAT HIRA HIVEP2 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HRAS HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 IDH1 IFT140 IFT172 IFT27 IFT57 IFT74 IGBP1 IGF1R IL11RA IL1RAPL1 IL6ST INPPL1 INTS1 IPO8 IQSEC2 IRX5 JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6B KAT8 KATNB1 KCNA2 KCNB1 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 KCTD1 KDM1A KDM4B KDM5B KDM5C KDM6A KIF11 KIF14 KIF15 KIF26A KIF7 KIFBP KLF13 KMT2A KMT2C KMT2D KMT2E KNL1 KPTN KRAS KREMEN1 LARP7 LDHD LETM1 LIFR LIG4 LIMK1 LMBRD2 LMNA LMNB1 LMX1B LRP2 LRP4 LTBP1 LZTFL1 LZTR1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MASP1 MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED13 MED13L MED25 MEF2C MEG3 MEGF8 MEIS2 METTL27 METTL5 MFSD2A MGAT2 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MN1 MOGS MPDZ MRAS MRPS2 MSL3 MTOR MTSS2 MUSK MVK MYCN MYH3 MYL11 MYMK MYMX MYOD1 NAA10 NAA20 NALCN NARS1 NBN NCAPD3 NCF1 NDN NDUFS4 NECAP1 NECTIN1 NEK9 NELFA NEXMIF NF1 NFIA NFIB NFIX NOG NONO NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NTRK2 NUAK2 NUP37 NUP85 NUS1 NXN OCA2 OCRL ODC1 OFD1 OGDHL ORC1 ORC6 OSGEP OTUD5 OTUD6B P4HB PACS1 PACS2 PAFAH1B1 PAK3 PALB2 PARS2 PAX3 PCDHGC4 PCGF2 PCLO PCNT PDE4D PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PGM3 PHC1 PHF6 PHF8 PHIP PHOX2B PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3R2 PITX1 PKDCC PLK4 PLOD1 PLPBP PMM2 POGZ POLA1 POLR1A POLR1B POLR1C POLR1D POLR3A POLR3GL PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R5D PPP3CA PQBP1 PRDM13 PRIM1 PRKAR1B PRMT7 PRPS1 PRR12 PRRX1 PSMD12 PTCH1 PTEN PTPN11 PUF60 PURA PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RBBP8 RBM10 RBMX RBPJ RDH11 RECQL4 RERE RFC2 RFWD3 RFX7 RHOA RIN2 RIPK4 RIT1 RLIM RNF135 RNF2 RNU4ATAC ROR2 RPL10 RPS19 RPS28 RPS6KA3 RRAS RRAS2 RREB1 RTL1 RTTN RYR1 SALL1 SALL4 SARS1 SASS6 SATB1 SATB2 SC5D SCAPER SCARF2 SCLT1 SCN3A SCN4A SCN8A SCNM1 SDCCAG8 SEC24C SEC24D SEMA5A SEPTIN9 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B2 SF3B4 SH3PXD2B SHOC2 SIAH1 SIM1 SIN3A SKI SKIC3 SLC13A5 SLC19A3 SLC1A2 SLC25A24 SLC29A3 SLC2A10 SLC30A9 SLC38A3 SLC39A13 SLC45A1 SLC6A17 SLC9A7 SLF2 SLX4 SMAD4 SMARCA2 SMC1A SMC5 SMO SMOC1 SMPD4 SMS SNAP29 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOX11 SOX5 SOX6 SOX9 SPART SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 SPTBN1 SRCAP STAC3 STAG2 STEEP1 STIL STRA6 STT3A STX1A STXBP1 SUPT16H SUZ12 SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TAF13 TASP1 TBC1D2B TBCD TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX6 TCF4 TCOF1 TELO2 TENM3 TFAP2A TFAP2B TFE3 TGDS TGFB2 TGFB3 THOC6 THUMPD1 TLK2 TMCO1 TMEM107 TMEM147 TMEM237 TMEM270 TNNI2 TNRC6B TOE1 TOR1A TP63 TRAIP TRAK1 TRAPPC10 TRAPPC14 TRIM32 TRIO TRIP12 TRIP13 TRMT1 TRMT10A TRPM3 TRRAP TSPEAR TSR2 TTC26 TTC8 TUBB TUBB3 TUBGCP2 TWIST1 TWIST2 TXNL4A UBA5 UBE2A UBE2T UBE3A UBE3B UBR1 UBR7 UFD1 UGDH UMPS UNC80 UQCC2 USP9X VAC14 VPS13B VPS35L VPS37D WAC WARS1 WASF1 WASHC5 WDPCP WDR35 WDR62 WNT5A WWOX XRCC2 XRCC4 YWHAE YWHAG YY1 ZBTB18 ZBTB20 ZC4H2 ZEB2 ZFHX4 ZIC1 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF462 ZNF526 ZSWIM6 HP_ABNORMALITY_OF_THE_PANCREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PANCREAS AAGAB ABCB11 ABCB4 ABCC6 ABCC8 ACD ACTG2 ACVR1B AGPAT2 ALG5 ALG9 ALMS1 AP2S1 APC APOC2 APOE APPL1 ARX ASXL1 ATP6AP1 ATP8B1 B9D1 B9D2 BAP1 BARD1 BCKDHA BCKDHB BICC1 BLK BMPR1A BRCA1 BRCA2 BRD4 BRIP1 BSCL2 C4A CASR CASZ1 CAV1 CBS CC2D2A CCDC47 CCND1 CCR1 CDC73 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEACAM3 CEACAM6 CEL CEP290 CFTR CHEK2 CIDEC CLCA4 CLCNKB CNOT1 COL14A1 COX4I2 CP CPA1 CSPP1 CTC1 CTLA4 CTNS CTRC CYBC1 DBT DCTN4 DIS3L2 DKC1 DNAJB11 DNAJC21 DYNC2I1 DZIP1L EDNRA EFL1 EIF2AK3 ENPP1 EPCAM ERAP1 EWSR1 FAH FAN1 FANCD2 FAS FCGR2A FGFR2 FLI1 FLNB FOCAD FOXF1 G6PC1 GABRD GANAB GATA6 GCGR GCK GCLC GK GLIS3 GLUD1 GNA11 GNAS GPC3 GPC4 GPIHBP1 GPR35 GSTM3 HAMP HFE HJV HLA-B HLA-DPA1 HLA-DPB1 HMGCL HMOX1 HNF1A HNF1B HNF4A HOXD13 HSPG2 IFNGR1 IFT140 IFT172 IGF2 IKZF1 IL10 IL12A IL12A-AS1 IL23R INS INSR JAG1 KCNAB2 KCNJ11 KCNN4 KCNQ1 KCNQ1OT1 KLF11 KLRC4 KRAS LBR LHX1 LMF1 LMNA LPL LRP5 LUZP1 MADD MAFA MC1R MDM2 MEFV MEN1 MGMT MIF MITF MKS1 MLH1 MLH3 MMP23B MMUT MRE11 MSH2 MSH6 MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYC MYCN NADK2 NBN NDUFS3 NEK1 NEUROD1 NFS1 NHP2 NOP10 NOTCH3 NPHP3 NPM1 NR1H4 NSD2 NSMCE2 NTHL1 NUTM1 OFD1 PALB2 PALLD PARN PAX4 PCCA PCCB PDE11A PDGFRB PDPN PDX1 PIK3CA PKD1 PKD2 PKHD1 PMS1 PMS2 PNPLA2 POT1 PPARG PRDM16 PRIM1 PRKAR1A PRKCSH PRKCZ PRSS1 PRSS2 PRTN3 PTEN PTF1A PTPN22 PTRH2 PUF60 RABL3 RAD50 RAD51 RAD51C RAD51D RARB RBM8A RECQL4 RERE RFX6 RMRP RNF43 RNU7-1 RPGRIP1 RPGRIP1L RPS20 RTEL1 SBDS SCNN1A SCNN1B SEC63 SEMA4A SEMA4D SERPINA1 SETBP1 SIK3 SKI SKIC3 SLC11A1 SLC12A3 SLC16A1 SLC25A13 SLC26A9 SLC29A3 SLC37A4 SLC6A14 SLC7A7 SLC9A3 SMAD4 SMARCAL1 SPEN SPINK1 SRP54 STAT3 STAT4 STK11 STRA6 STUB1 STX1A TCF4 TCTN1 TCTN2 TCTN3 TELO2 TERC TERF2IP TERT TF TGFB1 TGFBR2 TINF2 TKFC TLR4 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TP53 TRMT5 TXNDC15 TYMS UBAC2 UBE4B UBR1 UCP2 UQCRH USB1 VHL WDR19 WNT7B WRAP53 WT1 XPNPEP3 YARS1 YY1 HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND ACTG2 AIRE AP2S1 ARMC5 ARVCF ATP7B CA2 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 CLCNKB CLDN10 COL4A5 COMT CYP27B1 CYP2R1 DGCR2 DGCR6 DGCR8 ESS2 FAM111A FLCN FOXI1 GALNT3 GATA3 GCM2 GNA11 GNAS GNAS-AS1 GP1BB HADHA HADHB HBB HIRA IDH1 IDH2 IFNG IRX5 JMJD1C KCNJ10 KL LIG4 MEN1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NF1 NKX2-1 NSUN2 OCRL PIGT PLEKHM1 PRMT7 PTEN PTH PTH1R RET RREB1 SEC24C SLC12A1 SLC12A3 SLC26A4 SLC4A2 STX16 TBCE TBX1 TBX2 TRPV6 TSC1 TSC2 UFD1 VDR YY1 HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 CLCNKB FLCN GATA3 GCM2 IDH1 IDH2 IFNG KL MEN1 NF1 RET SLC12A3 TBX1 TSC1 TSC2 HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION AARS1 ABCC9 ACTB ACTG1 ACTN4 ADAMTS2 AGPAT2 AIP ANKFY1 ANKRD17 ANLN ANTXR1 AP1G1 APOL1 ARHGAP24 ARHGDIA ARX ASXL3 BAZ1B BCL7B BRAF BSCL2 BUD23 CAMTA1 CAV1 CAVIN1 CCBE1 CD2AP CDH11 CHD1 CHD8 CITED2 CLIP2 CLPB COL11A2 COL1A1 COL4A3 COL5A1 COL5A2 COQ8B CRB2 CTLA4 CYP26C1 DAAM2 DHPS DHX30 DNAJC30 DNMT3B DOCK7 DUX4 DUX4L1 EDA EDAR EDARADD EDEM3 EIF4H ELN EMP2 EPHB4 ERCC4 ESCO2 EXOC2 FBXO31 FGFR1 FGFR2 FGFR3 FHL1 FKBP6 FLNA FLT4 FOS FOXG1 FREM1 FRG1 FRMD4A FTSJ1 GAPVD1 GATA4 GATA5 GATA6 GATAD2B GDF1 GHR GJA5 GNE GNPTAB GPR101 GRIA3 GSN GTF2I GTF2IRD1 GTF2IRD2 H4C11 H4C3 H4C5 HBA1 HBA2 HDAC8 HLA-DPA1 HLA-DPB1 HRAS HS2ST1 IARS2 IDS IGSF3 INF2 JAG1 JARID2 KAT6A KCNJ8 KCTD1 KDR KIF11 KIF15 KIF1A KMT2B KMT2E KNSTRN KPTN KRAS LAS1L LBR LIG4 LIMK1 LMBRD2 LRP2 LTBP4 LZTR1 MAB21L2 MAGI2 MAP2K1 MAP2K2 MAP3K7 MASP1 MDH1 MED12L MED13 MEGF8 METTL27 MLXIPL MYD88 MYO1E MYOD1 NAA10 NCF1 NEU1 NKX2-5 NKX2-6 NPHS1 NPHS2 NRAS NRCAM NSD2 NSUN2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OPHN1 PAK3 PAX2 PCGF2 PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF6 PHF8 PIEZO1 PIK3CD PIK3R1 PITX2 PLCE1 PLPBP POLR3A POMP POU4F1 PPARG PPP1R21 PPP2CA PRMT7 PRR12 PRTN3 PSMB4 PSMB9 PSMC3 PSPH PTCH1 PTH1R PTPN22 PTPRO PUS7 RAB23 RBL2 RBM10 RBMX RFC2 RIN2 RPS23 RPS6KA3 SEC23A SERPING1 SETD2 SHANK3 SIK3 SKIC3 SLC25A24 SLC29A3 SLC35C1 SMARCA2 SMCHD1 SNX14 SOST SOX11 SOX18 SOX4 SP7 SPEN SPOP SPTBN1 SRCAP STX1A SUMF1 SUZ12 TAF1 TASP1 TBC1D8B TBL2 TBX1 TCF12 TGFBI TMEM270 TNFRSF1A TOE1 TRAPPC9 TRIO TRPC6 TUBB TWIST1 TWIST2 UBE2A VPS33A VPS37D WDR4 WT1 XPNPEP2 YARS1 YY1 ZFPM2 ZIC1 ZNHIT3 ZSWIM6 HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM AAAS AARS1 ABCD1 ABHD12 ACOX1 ACTG2 ADH1C AHI1 AIFM1 AKAP9 ALS2 ANK2 APC2 ARHGEF10 ARHGEF2 ARL13B ARL3 ARL6 ARMC9 ARSA ARVCF ARX ASCL1 ATL1 ATL3 ATP11A ATP1A2 ATP1A3 ATP7A ATP7B ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS B2M B9D1 B9D2 BBS1 BCOR BDNF BRAT1 BRCA1 BRCA2 BRIP1 BSCL2 CACNA1A CACNA1C CACNA1S CADM3 CALM1 CALM2 CALM3 CAV1 CAV3 CBY1 CC2D2A CCDC28B CCT5 CDON CEP104 CEP120 CEP126 CEP290 CEP41 CHCHD10 CHCHD2 CHRNA3 CISD2 CNTNAP1 COL1A1 COL25A1 COL5A1 COL5A2 COMP COMT COQ2 CPLANE1 CSPP1 CTDP1 CYB561 CYP11B2 CYP27A1 DBH DCAF8 DDX3X DDX59 DEGS1 DEPDC5 DHCR7 DHH DHX16 DIAPH3 DISP1 DLL1 DNAJB6 DNAJC13 DNAJC3 DNAJC6 DNM2 DYSF EBP ECE1 EDN3 EDNRB EGR2 EIF4G1 ELP1 EMILIN1 EPM2A ERBB2 ERBB3 ERCC3 ERCC4 ERCC6 ERCC8 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBXO38 FBXO7 FGD4 FGF8 FGFR1 FIG4 FLNC FLVCR1 FMR1 FOXF1 FOXH1 FXN GABBR2 GABRA3 GALC GARS1 GAS1 GATA1 GBA1 GBE1 GCK GDAP1 GDNF GFAP GFM2 GIGYF2 GJB1 GJC2 GLA GLI2 GLUD2 GMPPA GNB2 GP1BB GSN HEXB HIKESHI HINT1 HIRA HK1 HPDL HSD17B4 HSPB1 HSPB8 HTRA2 HYCC1 HYLS1 IDUA IFT74 IGHMBP2 IL12A IL12RB1 IL6ST INPP5E IRF5 ITPR3 JMJD1C JPH1 KARS1 KATNIP KCNE1 KCNE2 KCNH2 KCNJ18 KCNJ5 KCNQ1 KIAA0586 KIAA0753 KIF1A KIF1B KIFBP KIT KITLG KRAS L1CAM LAMA2 LBX1 LEP LEPR LGI1 LIFR LIG3 LITAF LMNA LMNB1 LRRK2 LRSAM1 LTBP3 LYST MAD2L2 MAPT MARCHF6 MATR3 MBTPS2 MECP2 MED25 MEGF10 MFF MFN2 MITF MKKS MKS1 MMEL1 MOGS MORC2 MPV17 MPZ MT-TT MTMR2 MTRFR MYH14 MYH3 MYO1H NAA10 NALCN NDRG1 NEFL NEU1 NFASC NGLY1 NHLRC1 NMNAT1 NODAL NOS1AP NOTCH2NLC NPHP1 NPTX1 NR4A2 NRTN NSD1 NTRK1 OFD1 OPA1 OTOF PALB2 PARK7 PAX3 PDE6D PDK3 PEX6 PGAP2 PGAP3 PHOX2B PIBF1 PIGL PIGN PIGO PIGV PIGW PIGY PINK1 PLA2G6 PLCH1 PLEKHG5 PLOD1 PLP1 PMP2 PMP22 PNKP PNPT1 PODXL POLG POLR3A POU2AF1 PPOX PRDX3 PRKN PRNP PRPS1 PRX PSAP PTCH1 PTRH2 RAB7A RAD21 RAD51 RAD51C RAI1 REEP1 RELN RET RETREG1 RFC1 RFWD3 RIPOR2 RMRP RPGRIP1L RREB1 RRM2B SACS SALL4 SAMD12 SAMD9L SBF1 SBF2 SCN10A SCN11A SCN3A SCN4B SCN5A SCN9A SCP2 SEC24C SEMA3C SEMA3D SEMA6B SEPTIN9 SETBP1 SETD2 SETX SF3B4 SH2B1 SH3TC2 SHH SIGMAR1 SIM1 SIX3 SLC12A6 SLC18A2 SLC1A3 SLC25A15 SLC5A7 SLC6A2 SLC6A8 SLX4 SMC1A SMO SNAI2 SNAP29 SNCA SNCAIP SNTA1 SORD SOX10 SPG11 SPG21 SPIB SPTBN4 SPTLC1 SPTLC2 SREBF1 STAG2 STARD7 STIL SUCLA2 SUFU SUMF1 SYNE1 SYNJ1 SYT2 TBC1D20 TBC1D24 TBP TBX1 TBX5 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TFG TGIF1 TIMM8A TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNFSF15 TNPO3 TOGARAM1 TPI1 TRDN TRIM2 TRPV4 TSPYL1 TTPA TTR TUBA1A TUBB3 TWNK TXN2 TYMP TYR UBA1 UBE2T UCHL1 UFD1 UQCRC1 VAMP1 VCP VPS11 VPS13A VPS13C VPS35 WDR45 WFS1 WNK1 XRCC2 YARS1 YEATS2 YME1L1 ZEB2 ZFHX4 ZIC2 ZNF423 HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION ADAM17 BLM CEBPE IFNG IL6ST KIF1A KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB3 LAMC2 MBTPS2 NFKB2 RETREG1 SCN9A SLC39A4 STAT3 STING1 TSC1 TSC2 WNK1 HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER BHLHA9 BMP2 BMPR1B COL2A1 FGFR2 FIG4 GDF5 HOXD13 IFT140 INTU KIF15 MYCN NSDHL RUNX2 SRCAP TWIST1 HP_ABNORMALITY_OF_THE_PHARYNX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHARYNX ACP5 ADA ADA2 ADNP AICDA ALG12 ALMS1 ARHGEF1 ARID1A ARID1B ARID2 ARSB ARVCF ASAH1 ATM BLM BTK C4B CARMIL2 CCDC65 CD19 CD4 CD79A CD79B CD81 CFAP298 CFAP74 CFI CIITA CLPB COG4 COL5A1 COL5A2 COMT CORO1A CR2 CREBBP CTC1 CTLA4 CXCR4 DCLRE1C DKC1 DNAAF1 DNAAF11 DNAAF2 DNAAF4 DNAAF5 DNAAF6 DNAH5 DNAI1 DNAI2 DNAJB13 DOCK8 DPF2 DPP9 DYM EGFR ELANE EP300 F12 FCGR3A FCHO1 FOXJ1 FOXN1 FOXP1 G6PC3 GALNS GAS2L2 GAS8 GFI1 GIPC1 GJA1 GLB1 GLI3 GNPTAB GNS GP1BB GUSB HCK HGSNAT HIRA HLA-B HLA-DPB1 HLA-DRB1 HPS6 HSPG2 HYDIN HYOU1 ICOS IDS IFIH1 IGHG2 IGHM IGKC IKBKB IKBKG IL10RB IL17RA IL21R IL2RG IL6R IL6ST IL7R IRF2BP2 IVNS1ABP JAK3 JMJD1C KATNIP KDM5C KRT5 LCK LEP LEPR LRBA LRP12 MAGT1 MATR3 MBTPS2 MCIDAS MDFIC MDM4 MGAT2 MGP MID1 MS4A1 MST1R MYSM1 NAGLU NBN NCF4 NEK10 NFIX NFKB1 NFKB2 NFKBIA NHP2 NLRP12 NME5 NME8 NOP10 NOTCH2NLC NPM1 ODAD1 ODAD2 OFD1 P4HA2 PABPN1 PARN PDE11A PHIP PIK3CD PIK3R1 PLG PLP1 PLVAP PNP POLE PRKAR1A PRKCD PRPS1 PSMB8 PTEN PTPN22 RAC2 RAG1 RAG2 RAI1 RELB RFX5 RFX7 RFXANK RFXAP RILPL1 RNF168 RPGR RREB1 RSPH1 RSPH4A RSPRY1 RTEL1 SALL4 SASH3 SCNN1A SCNN1B SCNN1G SEC24C SERPING1 SETBP1 SGSH SH2D1A SH3KBP1 SHH SLC29A3 SLC37A4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX9 SPAG1 SPI1 SRP19 SRP54 STAT1 STAT3 STK11 STK36 STK4 STX3 STXBP2 TAFAZZIN TAP1 TAP2 TAPBP TBC1D24 TBX1 TCIRG1 TCOF1 TERC TERT TINF2 TMCO1 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF12 TOM1 TP53 TP63 TYMS UFD1 UNC119 UNG UQCRH USB1 USP26 USP9X WAS WRAP53 XIAP XPNPEP2 ZAP70 ZBTB24 ZBTB7A ZMYND10 ZNF341 HP_ABNORMALITY_OF_THE_PHILTRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHILTRUM AARS1 AASS ABCC8 ABCC9 ABL1 ACER3 ACTA1 ACTB ACTG1 ADAMTS3 ADAMTSL1 ADAMTSL2 ADNP ADSL AFF3 AFF4 ALDH6A1 ALG11 ALG12 ALG13 ALG8 ALG9 ALX4 ANKRD11 ANKRD17 ANO1 ANTXR1 AP1G1 AP1S2 AP2M1 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARHGEF2 ARID1A ARID1B ARID2 ARNT2 ARSK ARVCF ARX ASH1L ATG7 ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATRX AUTS2 AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 BAP1 BAZ1B BCAS3 BCL11B BCL7B BCOR BCR BMP1 BMP2 BPTF BRAF BRAT1 BRCC3 BRD4 BRF1 BRPF1 BUB1B BUD23 C12orf57 CAMK2G CAMTA1 CANT1 CASK CASZ1 CBL CCBE1 CCDC22 CCDC8 CCNK CD96 CDC42 CDC42BPB CDC6 CDH11 CDH2 CDK10 CDK13 CDKL5 CDON CERT1 CHAMP1 CHD2 CHD5 CHD8 CHRNG CHST14 CHST3 CHSY1 CKAP2L CLCF1 CLCN3 CLCN6 CLIC2 CLIP2 CLTC CNOT1 CNOT3 COG1 COG7 COL11A1 COL11A2 COL2A1 COL3A1 COLEC11 COMT COX7B CPLX1 CREBBP CRKL CRLF1 CRTAP CSGALNACT1 CSNK2B CTBP1 CTCF CTNNB1 CUL4B CUL7 DDR2 DDX59 DDX6 DEAF1 DENND5A DHCR7 DHPS DHX30 DHX37 DIS3L2 DISP1 DLK1 DLL1 DLL3 DNAJC30 DNMT3A DOCK7 DPF2 DPM1 DPM2 DPYD DPYSL5 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 EBP EDEM3 EED EFTUD2 EIF2S3 EIF4H ELN EMC1 EP300 EPB41L1 EPG5 ERCC1 ERCC6 ERLIN2 ERMARD EXOC2 EXOC7 EXOSC1 EXOSC2 EXT1 EXT2 EXTL3 EZH2 FAR1 FAT4 FBN1 FBXO11 FGD1 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FIG4 FKBP6 FLCN FLI1 FLII FLNA FOXG1 FOXH1 FOXL2 FOXP2 FRA10AC1 FREM1 FZD2 GABRD GAD1 GALNT2 GAS1 GATAD2B GJA1 GJA5 GJA8 GLB1 GLI2 GLIS3 GMPPA GNB1 GNB2 GNE GNPTAB GOLGA2 GP1BB GPC6 GRIA3 GRIA4 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C11 H4C5 H4C9 HDAC6 HDAC8 HECTD4 HES7 HIRA HIVEP2 HNRNPH2 HNRNPU HOXB1 HPDL HRAS HS2ST1 HSD17B4 HSPG2 HUWE1 IARS2 IDH1 IFIH1 IFT140 IFT57 IFT80 IFT81 IGF1R IL6ST INPPL1 INTS1 IQSEC2 IREB2 IRX5 ITCH JARID2 JMJD1C KARS1 KAT6A KAT6B KCNAB2 KCNH1 KCNJ11 KCNJ6 KCNJ8 KCNK4 KCNK9 KDF1 KDM4B KDM5B KDM5C KIAA0753 KIDINS220 KIF11 KIF15 KIF26A KIF7 KIFBP KIT KLHL41 KMT2A KMT2D KRAS LARP7 LEMD2 LETM1 LFNG LIMK1 LMNB1 LMX1B LRP4 LRRC32 LTBP1 LTBP3 LTBP4 LUZP1 MAB21L1 MAB21L2 MADD MAF MAGEL2 MAN1B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MCTP2 MED12 MED12L MED13 MED25 MEF2C MEG3 MEGF8 MEIS2 MESP2 METTL23 METTL27 METTL5 MGAT2 MGP MID1 MID2 MKS1 MLXIPL MMACHC MMP23B MOCS1 MOCS2 MPC1 MRPS28 MSL3 MTOR MTX2 MUSK MYH3 MYH8 MYMK MYMX MYO18B MYOD1 NAA10 NAA20 NALCN NARS2 NBAS NBN NCF1 NEB NECTIN1 NEK9 NELFA NEXMIF NF1 NFIB NFIX NIPBL NKAP NLRP1 NODAL NOG NONO NOTCH2 NOTCH3 NOVA2 NRAS NRCAM NSD1 NSD2 NSRP1 NSUN2 NUP107 NXN OBSL1 OCLN OCRL OFD1 OPHN1 ORC4 OSTM1 OTUD6B PACS1 PAH PAM16 PARS2 PAX3 PBX1 PCDHGC4 PCLO PDCD6IP PDE4D PDGFRB PDHA1 PDPN PEX26 PGAP2 PGAP3 PGM2L1 PHF21A PHIP PIEZO2 PIGB PIGG PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PITX2 PKDCC PLAA PLPBP PMM2 POC1A POGZ POLR3A POLR3GL POR POU4F1 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM16 PRDX1 PRIM1 PRKACA PRKACB PRKCZ PRKDC PRMT7 PSMC3 PSMD12 PTCH1 PTEN PTH1R PTPRF PUF60 PURA PUS1 PUS7 PYCR1 PYCR2 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAI1 RALA RECQL RERE RFC2 RFX7 RHOBTB2 RIC1 RIN2 RIPPLY2 RNF135 RNF2 RNU4ATAC ROBO1 ROR2 RPL10 RREB1 RTL1 RTTN RUNX2 RYR1 SATB1 SATB2 SC5D SCN1A SCN4A SEC23A SEC24C SETBP1 SETD5 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIN3A SIX3 SKI SKIC3 SLC25A24 SLC26A2 SLC2A1 SLC2A10 SLC35A1 SLC35A2 SLC35C1 SLC45A1 SLC6A1 SLC6A17 SLC9A7 SLF2 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMOC1 SMPD4 SMS SNAI2 SNRPB SNX14 SON SOX11 SOX4 SOX9 SPECC1L SPEN SPOP SPRED2 SPTBN1 SRCAP STAG2 STEEP1 STIM1 STX1A STXBP1 SUFU SUMF1 SUZ12 SYNE1 SYNGAP1 SYT1 TAB2 TAF1 TAF6 TAF8 TALDO1 TAOK1 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TCF3 TCF4 TCTN3 TDGF1 TENM3 TET3 TFAP2A TFAP2B TGFB3 TGIF1 THOC6 THSD1 THUMPD1 TMCO1 TMEM147 TMEM237 TMEM270 TMEM53 TMEM70 TMEM94 TMLHE TNNI2 TNPO2 TOE1 TOR1A TPM3 TPR TRAPPC4 TRAPPC9 TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRPM3 TRPS1 TRRAP TSPAN7 TTC5 TUBB TUBGCP2 TWIST1 TWIST2 TXNL4A UBE2A UBE3B UBE4B UBR1 UBR7 UFD1 UGDH UGP2 UNC80 UPF3B USB1 USP9X VAC14 VPS13B VPS37D VPS51 WARS2 WDR19 WDR35 WDR37 WDR4 WLS WNT4 WNT5A WWOX XYLT1 XYLT2 YARS2 ZBTB18 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZMIZ1 ZNF148 ZNF292 ZNF462 ZNF699 ZPR1 HP_ABNORMALITY_OF_THE_PINEAL_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PINEAL_GLAND ABCB11 ABCB4 ADNP ATP8B1 BPTF GALNT2 INSR KANSL1 KRAS NONO NR1H4 PNPLA2 PSMD12 VAX1 WDR26 HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AIP AKT1 ALOX12B ALOXE3 ANAPC1 ANKRD1 AP1B1 AQP5 ASXL1 ATP2A2 ATP6V0A2 ATP6V1B2 B4GALT7 BAG3 BAG5 BRAF C1R CAP2 CARD14 CAST CD28 CD4 CDSN CERS3 CFTR COG6 COL14A1 COL17A1 COL7A1 CREBBP CRYAB CSRP3 CST6 CSTA CTC1 CTLA4 CTSB CTSC CYP27A1 CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP DST ENPP1 EP300 ERCC6 FERMT1 FGFR2 FGFR3 FHL2 FIG4 FKTN GATAD1 GJA1 GJB2 GJB3 GJB4 GJB6 GMPPA GPR101 GRHL2 HAND2 HNRNPK HPGD HRAS ITGB4 IVNS1ABP JPH2 JUP KANK2 KCNH1 KCNJ8 KCNMA1 KCNN3 KDSR KLHL24 KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LIG4 LMNA LMOD2 LORICRIN LSS LZTR1 MAP2K1 MAP2K2 MBTPS2 MCOLN1 MMP1 MRAS MT-TS1 MTOR MTX2 MYBPC3 MYH6 MYH7 MYPN NECTIN1 NEXN NHP2 NIPAL4 NLRP1 NOP10 NPM1 PARN PDGFRB PEPD PERP PIGL PIGN PIGQ PIK3CA PKP1 PLAA PLEC PLN PLOD1 PNPLA1 POMP PPCS PRDM16 PRKD1 PSEN1 PSEN2 PTCH1 PTCH2 PTEN RAF1 RBM20 RECQL4 RHBDF2 RIT1 RPL3L RSPO1 RTEL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINA12 SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 SOX18 SRD5A3 STS SUFU SULT2B1 TAF1A TAFAZZIN TAT TBL1XR1 TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRPM4 TRPV3 TTN TXNRD2 TYMS USB1 USF3 VCL VEZF1 VPS33B WNT10A WRAP53 ZNF469 HP_ABNORMALITY_OF_THE_PREMAXILLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PREMAXILLA COLEC11 EFEMP2 GLI2 HRAS NFIX NRAS PEX19 PTCH1 RECQL SIX3 SMOC1 HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY ALG12 ALG6 ALG8 B4GALT1 DPAGT1 DPM1 F5 GGCX MPI NGLY1 PROC PROS1 HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_5TH_FINGER BHLHA9 GDF5 KIF15 NOG ROR2 HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB BMPR1B CHSY1 FGFR2 IHH NONO PQBP1 RAB23 HP_ABNORMALITY_OF_THE_PUBIC_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PUBIC_HAIR ANOS1 APCDD1 AR AXL BMP15 BNC1 CCDC141 CDSN COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DUSP6 EPS8L3 ESR1 FEZF1 FGF17 FOXL2 FSHB FSHR GATA4 GJB2 GJB6 GNRH1 GNRHR HLA-DRA HR ITGB4 KCTD1 KRT74 LHB LSS MAP3K1 MDM2 MRPS22 MSH4 NR0B1 NR5A1 NUP107 ORC6 POLR3H PPP2R3C PSMC3IP RPL21 SEMA3E SOX9 SPIDR SPRY4 SRA1 SRY TP63 VAMP7 WDR11 WT1 WWOX ZFPM2 ZSWIM7 HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY AASS ACTA2 ACVR2B ADAMTS19 AGGF1 ALDH18A1 ALDH1A2 ARHGAP31 ARSL B3GLCT BAZ1B BCL11B BCL7B BCOR BGN BMPR2 BRAF BUD23 CBL CCDC22 CCNQ CHD7 CIROP CLCN7 CLIP2 CNTN1 COL3A1 COL5A1 CRELD1 CRTAP DGCR2 DGCR6 DGCR8 DLK1 DLL4 DNAJC30 DOCK6 DVL3 EDNRB EFEMP2 EIF4H ELN EOGT ESS2 FADD FBLN5 FBN1 FGFR1 FKBP6 FLT4 FOXF1 FRA10AC1 GATA1 GATA4 GATA6 GDF1 GPC6 GTF2I GTF2IRD1 GTF2IRD2 IFT43 IPO8 ITPR1 JAG1 KITLG KRAS LIFR LIMK1 LMNA LTBP1 LTBP4 LZTR1 MED12 MEG3 METTL27 MGP MITF MLXIPL MMP21 MRAS MYH7 NAA10 NCF1 NKX2-5 NKX2-6 NODAL NOTCH1 NOTCH2 NRAS ODAD1 OTUD5 PAX6 PIGL PIGN PIGO PKD1L1 PLD1 PLXND1 POLA1 PPP1CB PTPN11 RAF1 RASA2 RBPJ RFC2 RIT1 RPL10 RRAS RRAS2 RTL1 SKIC2 SKIC3 SLC2A10 SMARCA4 SMG8 SNAI2 SNX10 SOS1 SOS2 SOX10 SPRED2 STRA6 STX1A TAOK1 TBL2 TBX1 TCIRG1 TGFBR1 TGFBR2 TLL1 TMEM270 TMEM94 TNFSF11 TRAF7 TRAIP TTC26 TYR UBE2A VPS37D WNT4 WRN ZEB2 HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE AASS ACTA2 ACVR2B ACVRL1 ADAMTS19 AFF4 AGGF1 ALDH18A1 ALDH1A2 ARHGAP31 ARSL B3GLCT BAZ1B BCL11B BCL7B BCOR BGN BMPR2 BRAF BUD23 CAV1 CBL CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCND1 CCNO CCNQ CDC42 CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CHD7 CIROP CITED2 CLCN7 CLIP2 CNTN1 COL3A1 COL5A1 CRELD1 CRTAP DGCR2 DGCR6 DGCR8 DHCR24 DLK1 DLL3 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DOCK6 DRC1 DVL3 EDNRB EFEMP2 EIF2AK4 EIF4H ELN ENG EOGT ESS2 FADD FBLN5 FBN1 FGFR1 FKBP6 FLT4 FOXC2 FOXF1 FOXJ1 FRA10AC1 GAS2L2 GAS8 GATA1 GATA4 GATA6 GDF1 GPC3 GPC4 GPC6 GTF2I GTF2IRD1 GTF2IRD2 HES7 HYDIN IFT43 IPO8 ITPR1 JAG1 KITLG KRAS LFNG LIFR LIMK1 LMNA LRRC56 LTBP1 LTBP4 LZTR1 MCIDAS MED12 MEG3 MESP2 METTL27 MGP MITF MLXIPL MMP21 MRAS MYH7 MYRF NAA10 NCF1 NEK10 NIPA1 NIPA2 NKX2-5 NKX2-6 NME5 NME8 NODAL NOTCH1 NOTCH2 NRAS ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTUD5 PAX6 PIGL PIGN PIGO PKD1L1 PLD1 PLXND1 POLA1 PORCN PPP1CB PTPN11 RAF1 RASA2 RBPJ RFC2 RIPPLY2 RIT1 RPGR RPL10 RPS15A RRAS RRAS2 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTL1 SFTPB SKIC2 SKIC3 SLC2A10 SMAD2 SMAD4 SMARCA4 SMC1A SMG8 SNAI2 SNX10 SOS1 SOS2 SOX10 SPAG1 SPEF2 SPRED2 STK36 STRA6 STX1A TAOK1 TBL2 TBX1 TBX5 TCIRG1 TGFBR1 TGFBR2 TLL1 TMEM260 TMEM270 TMEM94 TNFSF11 TRAF7 TRAIP TTC12 TTC26 TUBG1 TYR UBE2A VHL VPS37D WNT3 WNT4 WRN WT1 ZEB2 ZIC3 ZMYND10 HP_ABNORMALITY_OF_THE_PULMONARY_VEINS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS ACVR2B AFF4 B3GLCT BMPR2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDC42 CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CIROP CITED2 CRTAP DHCR24 DLL3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EIF2AK4 FOXF1 FOXJ1 GAS2L2 GAS8 GATA1 GDF1 GPC3 GPC4 HES7 HYDIN LFNG LRRC56 MCIDAS MED12 MESP2 MMP21 MYRF NEK10 NIPA1 NIPA2 NME5 NME8 NODAL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RIPPLY2 RPGR RPS15A RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 SFTPB SMAD2 SMC1A SPAG1 SPEF2 STK36 TBX5 TMEM260 TTC12 TUBG1 WT1 ZIC3 ZMYND10 HP_ABNORMALITY_OF_THE_PYLORUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PYLORUS ADAMTS3 ARF1 ARFGEF2 ATP6V1E1 BCOR BCR BIN1 BRD4 CASZ1 CAVIN1 CCBE1 COL18A1 CRKL CYBA CYBB CYBC1 DHCR7 DHODH DLK1 DNM2 DYRK1A EFEMP2 ERMARD FAT4 FBLN5 FGFR2 FIG4 FLI1 FLNA GABRD GTF2H5 HDAC4 HDAC8 HNF1B HRAS HSPG2 ITGA6 ITGB4 KANSL1 KCNAB2 LAMA3 LAMB3 LAMC2 LTBP1 LTBP4 LUZP1 MAP1B MAP3K7 MAPK1 MED12 MEG3 MMP23B MTM1 MTMR14 MYF6 NAA10 NCF1 NCF2 NCF4 NEDD4L NEFH NEK9 NFIX NFKB2 NIPBL NPHS1 OTC PAK2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PLEC PPP2R3C PPP2R5D PRDM16 PRKCZ PYCR1 RAD21 RERE RTL1 RYR1 SERPINH1 SH2B1 SKI SLC2A10 SMC1A SMC3 SPEN SYT2 TBX3 TFAP2A TMTC3 UBE4B VAC14 ZEB2 ZNF699 HP_ABNORMALITY_OF_THE_RADIAL_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_RADIAL_HEAD AFF3 ANAPC1 ARID1B ASXL1 ATR B3GALT6 B3GAT3 B4GALT7 BMP1 CD96 CDC45 CHRNG CHST3 CLCN3 COL1A1 COL27A1 COL5A1 COL5A2 CREBBP DONSON DVL1 EP300 ERCC1 ESCO2 EXOC6B EXTL3 FLNA FZD2 GPC6 GSC IFITM5 KIF22 L1CAM LMX1B MAP3K7 NIPBL NOG NOTCH2 PRKAR1A RECQL4 RNU4ATAC ROR2 SCARF2 SHOX SKI SLC39A13 SOX9 SRCAP TBX15 WNT5A HP_ABNORMALITY_OF_THE_SCROTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SCROTUM ACTB AKT1 ALG12 ALX4 ANOS1 AR ARCN1 ATRX BLTP1 BMP4 BUB1B CDH11 CDKN1C CHD7 CHRNG CILK1 COLEC10 CREBBP CYB5A CYP17A1 DACT1 DHCR7 DHX37 DMRT3 DYRK1A EFNB1 EP300 ERCC2 FARSB FAT4 FGD1 FGFR2 FLI1 FRAS1 FREM2 FZD2 GATA4 GLI3 GRIP1 HERC2 HMGA2 HNF1B HOXA13 HOXD13 HSD3B2 IER3IP1 IGF2 IRF6 KAT6B KIFBP KRT5 LAMA5 LHX1 LMX1B MAB21L1 MAGEL2 MAMLD1 MAP3K1 MAPRE2 MED12 MEGF8 METTL23 MID1 MINPP1 MKRN3 MNX1 MTM1 MYH3 MYRF NDN NECTIN1 NEXMIF NPAP1 NR0B1 NR5A1 OCA2 OPHN1 ORC1 ORC6 PHF6 PLAG1 PNPLA6 POFUT1 POGLUT1 POLR1B POLR1C POLR1D POR PSENEN PSMD12 PTEN PTRH2 PWAR1 PWRN1 RAB18 RAB3GAP2 RFX7 RYR1 SALL1 SAMD9 SEMA3E SETBP1 SIM1 SLC25A24 SNORD115-1 SNORD116-1 SNRPN SOX9 SPECC1L SPTBN1 SRCAP SRD5A2 SRY STT3A STT3B STXBP1 TBC1D20 TBX3 TBX4 TCOF1 TMCO1 TOE1 TRRAP TSPYL1 TUBB TWIST2 UPB1 VAMP7 WNT7A WT1 WWOX ZEB2 ZFPM2 HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL ADCY3 AKT1 ANK1 ANOS1 ARNT2 ARSL ATP13A2 ATP7A ATP7B AXL BAP1 CCDC141 CEP290 CHD7 DCC DDX6 DMXL2 DNAI1 DNAJC13 DNAJC6 DUSP6 EIF4G1 FEZF1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FLRT3 FSHB GBA1 GIGYF2 GNRH1 GNRHR HESX1 HS6ST1 HTRA2 HTT HYLS1 IFT27 IL17RD KIF7 KISS1 KISS1R LGI1 LHB LRRK2 LZTFL1 MFN2 MICAL1 NDNF NF2 NHLH2 NSMF OTX2 PARK7 PDGFB PEX7 PHYH PIK3CA PINK1 PLXND1 PODXL PRDM12 PRKN PROK2 PROKR2 PTCH1 PTCH2 PTPN11 RELN REV3L SCN9A SCP2 SEMA3A SEMA3E SHH SLC2A3 SLC39A14 SMARCB1 SMARCE1 SMCHD1 SMO SNCA SOX10 SOX2 SOX3 SOX9 SPRY4 SRA1 SUFU SYNJ1 TAC3 TACR3 TCF12 TERT TRAF7 TRANK1 TSHZ1 UCHL1 VPS13C VPS35 WDR11 HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE ABCA1 ACTA1 ADA2 ADCY6 ADGRG1 ADNP AGRN AK9 AKT1 ALG14 ALG2 AMER1 ANKH ANO5 ANTXR1 ASAH1 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CAPN3 CFL2 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN7 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ CRLF1 CRPPA CRYAB DES DLL4 DMPK DNAJB6 DNM2 DOK7 DPAGT1 EYA1 FKRP FKTN FRG1 GAN GFPT1 GJA1 GJC2 GLE1 GMPPB GNE GSN HK1 HLA-DRB1 HOXB1 ITGB4 KBTBD13 KIF1B KLHL40 KLHL41 KMT2D KY LAMA2 LAMB2 LARGE1 LMOD3 LRP12 LRP4 LRP5 MEGF10 MGME1 MPZ MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL2 MYMK MYMX MYO9A MYPN NEB NEFL NF2 NOD2 OSTM1 PABPN1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLXND1 POLG POLG2 POMT1 POMT2 PTDSS1 PTRH2 PUF60 RAPSN REV3L RRM2B RYR1 SALL4 SCN4A SCO2 SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A4 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPTBN4 SQSTM1 SRPX2 STAG2 SUCLA2 SUFU SUPT16H SYNE1 SYT2 TCIRG1 TERT TFAP2A TFG TGFB1 TK2 TOR1A TPM2 TPM3 TRAF7 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 UBE2T VAMP1 VCP XRCC2 YME1L1 ZC4H2 ZFHX4 HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE ABHD5 ACTA1 AGRN AK9 ALG14 ALG2 ALX1 ALX3 ANO5 ANXA11 ASH1L ATP6V0A2 BAG3 BICD2 BIN1 BRAF C19orf12 CAPN3 CCDC8 CFL2 CHRNA1 CHRNB1 CHRND CHRNE COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA CRYAB CSGALNACT1 CUL7 DMD DNA2 DNAJB6 DNM1L DOK7 DPAGT1 DSTYK DYSF EMD EMILIN1 EYA1 FBN1 FHL1 FKRP FKTN FLNA FLNB FLNC FRG1 GALC GDAP1 GDF11 GFPT1 GMPPB GNE GYG1 HACD1 HNRNPDL ITGA7 KBTBD13 KCNJ2 KLHL41 LAMB2 LGI4 LMNA LRIF1 LRP4 MAP3K20 MAP3K7 MATR3 MT-TE MUSK MYBPC1 MYH2 MYH7 MYL2 MYMK MYMX MYOT MYPN NEB NEFL OBSL1 OPA1 PAX1 PAX3 PLIN4 PLXND1 PNPLA2 POGLUT1 POLG POLG2 POMT2 PRR12 PSAP PTPN11 PUS1 PYROXD1 RAF1 RAPSN RBM8A REV3L RRM2B RYR1 RYR3 SALL4 SCN4A SELENON SEPTIN9 SGCA SGCB SGCD SGCG SLC25A4 SMCHD1 SMN1 SMN2 SMPX SPEG SPRED2 SPTLC1 SQSTM1 SYNE1 SYNE2 TBX3 TBX5 TGFB3 TK2 TMEM43 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TRIO TRPS1 TRPV4 TTN TWNK VCP VWA1 HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS ATXN1 ATXN2 ATXN3 GCLC GJB1 MAN2B1 PLP1 PRKAR1B REPS1 RNASEH1 RRM2B TDP1 HP_ABNORMALITY_OF_THE_SPLEEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPLEEN ABCA1 ABCA12 ABCB11 ABCB4 ABCD3 ABCG8 ABL1 ACVR2B ADA ADA2 ADAMTS3 ADAR AFF4 AGA AGPAT2 AIRE AKR1D1 AKT1 ALAS2 ALDOA ALG1 ALG9 ALMS1 ALPK1 ANK1 ANKRD55 AP3B1 AP3D1 APOA1 APOC2 APOE ARSB ARVCF ASAH1 ASXL1 ATM ATP6AP1 ATP6V1B2 ATP7B ATP8B1 ATRX B2M B4GALT1 B9D1 B9D2 BACH2 BCL11A BCL2 BCL6 BCR BMP2 BMP6 BPGM BRAF BRCA1 BRCA2 BSCL2 BTD BTNL2 C4A CA2 CALR CARD11 CASK CASP10 CASP8 CASR CASZ1 CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC103 CCDC115 CCDC32 CCDC39 CCDC40 CCDC47 CCDC65 CCND1 CCNO CCR1 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD70 CD81 CDAN1 CDIN1 CDKN2A CDON CENPF CEP290 CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP74 CFC1 CFTR CHD7 CLCN7 CLDN1 CLPB COG1 COG4 COG5 COG6 COG7 COMT COX10 COX4I2 CPLX1 CPOX CR2 CREBBP CSF3R CSPP1 CTBP1 CTC1 CTLA4 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 DCDC2 DCLRE1C DDRGK1 DGUOK DHCR24 DHCR7 DKC1 DLK1 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNASE1L3 DNASE2 DPM1 DRC1 DYNC2LI1 DZIP1L EP300 EPB41 EPB42 EPOR ERAP1 ERBB3 ERCC6 ERCC8 ESCO2 EXOC2 F5 FAH FAM111A FARSA FAS FASLG FAT4 FCGR2A FCHO1 FERMT3 FGA FGB FGFR2 FGFRL1 FGG FMO3 FOCAD FOXF1 FOXJ1 FOXP3 FUCA1 G6PC3 G6PD GAA GABRD GALE GALK1 GAS2L2 GAS8 GATA1 GATA2 GBA1 GBE1 GCLC GDF1 GEMIN4 GIMAP5 GLB1 GLIS3 GLRX5 GNB2 GNE GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GSN GUSB GYPC HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DRB1 HMGA2 HMOX1 HPGD HSD17B4 HSD3B7 HSPG2 HYDIN HYLS1 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IKBKG IKZF3 IL10 IL12A IL12A-AS1 IL1RN IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 IRF2BP2 IRF4 IRF8 ITCH ITK JAK1 JAK2 JAK3 JMJD1C KATNB1 KCNAB2 KCNH1 KCNMA1 KCNN3 KCNN4 KIF3B KIT KLF1 KLRC4 KPTN KRAS LACC1 LAT LBR LCAT LEMD3 LETM1 LIG4 LIPA LMNA LPIN2 LPL LRBA LRRC56 LSM11 LTBP4 LUZP1 LYST LYZ LZTR1 MAGT1 MAN2B1 MCIDAS MCM10 MCM4 MECOM MED12 MEFV MEG3 MEGF8 MICU1 MIF MKS1 MMP21 MMP23B MMUT MNS1 MOGS MPIG6B MPL MRAS MS4A1 MST1 MVK MYC MYCN MYD88 MYO5B MYRF NAE1 NAGLU NBEAL2 NCF1 NCF2 NCF4 NCKAP1L NDE1 NDUFS4 NEK10 NEK8 NEU1 NFKB1 NFKB2 NFKBIA NGLY1 NHLRC2 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NME5 NME8 NOD2 NODAL NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS NSD2 OAS1 OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORAI1 OSTM1 OTC PALB2 PALLD PARN PDGFRA PDPN PEPD PEX13 PEX2 PEX7 PHKA2 PHKB PHKG2 PHYH PIBF1 PIEZO1 PIGA PIGM PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKHD1 PKLR PLEKHM1 PNP PNPLA2 PPARG PPP2R3C PRDM16 PRF1 PRIM1 PRKCD PRKCZ PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN11 PTPN2 PTPN22 PTPRC RAB23 RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RARB RASA2 RASGRP1 RBCK1 RBM8A RELN RERE RFWD3 RHAG RHCE RHD RINT1 RIPK1 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RORC RPGR RPGRIP1 RPGRIP1L RPSA RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RUNX1 SAMD9 SAMD9L SAMHD1 SC5D SCARB2 SCYL1 SEC23B SEC24C SEMA4D SERPINA1 SETBP1 SF3B1 SGSH SH2B3 SH2D1A SKI SKIC2 SKIC3 SLC17A5 SLC25A13 SLC29A3 SLC2A1 SLC30A10 SLC37A4 SLC39A4 SLC4A1 SLC7A7 SLCO2A1 SMAD2 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SP110 SPAG1 SPEF2 SPEN SPRED2 SPTA1 SPTB SRSF2 STAT1 STAT3 STAT4 STEAP3 STIM1 STK36 STRA6 STX11 STXBP2 SUMF1 SYK TALDO1 TBX1 TBXAS1 TCF3 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TERC TERT TET2 TFE3 TGFB1 THPO TINF2 TLR4 TLR8 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TOM1 TP53 TPI1 TPP2 TRAC TREX1 TRNT1 TRPV6 TTC12 TTC26 TULP3 TWIST1 TXNDC15 TYMS UBAC2 UBE4B UBR1 UFD1 UMPS UNC13D UROD UROS USB1 USP53 VPS11 VPS13A VPS33A VPS33B VPS45 WDR1 WDR35 WNT3 WNT7B WRAP53 WT1 XIAP XK YARS1 YME1L1 ZAP70 ZEB2 ZFYVE19 ZIC3 ZMYND10 ZNF699 ZNFX1 HP_ABNORMALITY_OF_THE_STAPES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_STAPES ABCC6 BPTF COL1A1 COL1A2 ENPP1 GDF6 GJB2 GJB6 IDS IL11RA NOG POU3F4 PSMD12 RAD21 SETBP1 STAG2 HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION ATP2A2 CARD14 COL7A1 IFNG JUP KDF1 KRT14 KRT17 MBTPS2 TRPV3 TSC1 TSC2 HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES ABCC9 AGPAT2 ANTXR1 AP1G1 ARX BRAF BSCL2 CAV1 CAVIN1 CHD8 CITED2 COL11A2 EDA ERCC4 ESCO2 FBXO31 FGFR1 FGFR2 FGFR3 FHL1 FLNA FLT4 FOS FREM1 GATA4 GATA5 GATA6 GDF1 GHR GJA5 GRIA3 HBA1 HBA2 HDAC8 IDS JAG1 JARID2 KCNJ8 KDR KIF11 KNSTRN KRAS LAS1L LBR LIG4 LMBRD2 LZTR1 MAP2K1 MAP2K2 MAP3K7 MASP1 MEGF8 MYOD1 NEU1 NKX2-5 NKX2-6 NSUN2 OPHN1 PAK3 PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF6 PHF8 PIK3CD PIK3R1 PITX2 POLR3A PPARG PPP1R21 PRMT7 PRR12 PSMC3 PTCH1 PTH1R RAB23 RBM10 RBMX RPS6KA3 SEC23A SHANK3 SIK3 SKIC3 SLC25A24 SOST SOX11 SP7 SPOP SUZ12 TAF1 TBX1 TCF12 TOE1 TRAPPC9 TWIST1 UBE2A ZFPM2 ZIC1 ZSWIM6 HP_ABNORMALITY_OF_THE_TARSAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TARSAL_BONES AARS1 ADAMTSL1 ADAT3 AEBP1 ARID1B ATP6AP2 ATP7A ATPAF2 BAP1 BMPR1B CANT1 CCDC8 CHRNG CHSY1 CLTCL1 COASY COL11A2 COL1A2 COL25A1 COL2A1 CUL7 DLK1 DOK7 DPH5 DYM EBP ECEL1 EIF2AK3 EMG1 EN1 EPB41L1 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 EXT1 EXT2 EZH2 FBLN1 FBN1 FGFR1 FGFR2 FGFR3 FIG4 FLNA FLNB GDF5 GDF6 GFM2 GJB2 GJB6 GLE1 GLI3 GPX4 H4C9 HADHA HADHB HDAC6 HOXA13 HOXD10 HOXD13 INPPL1 IPO8 KANSL1 KATNB1 KIF14 LBR LEMD3 LMBR1 LMNA MAF MAFB MAGEL2 MAP3K7 MATN3 MEG3 MET MKKS MMP14 MMP2 MUSK MYBPC1 MYH3 MYL11 NALCN NDE1 NGLY1 NOG NUP188 NUP88 OBSL1 OFD1 OTUD5 PEX1 PHEX PHGDH PLAA POR PSAT1 PTH1R PUF60 RAB33B RBM10 RELN RNU12 RSPRY1 RTL1 SAMD9 SATB2 SCYL2 SLC29A3 SLC2A10 SLC35D1 SMOC1 SMPD4 SOX4 SYT1 TBX4 TELO2 TNNI2 TNNT3 TOR1A TPM2 VAC14 WNT7A WRN ZC4H2 ZEB2 ZMPSTE24 HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT ANKRD55 CD247 COL1A1 COL5A1 COL5A2 EDN1 GNAI3 IDS IL2RA IL2RB LAMA2 LMNA PLCB4 PTPN2 PTPN22 SF3B4 STAT4 VPS13A ZMPSTE24 HP_ABNORMALITY_OF_THE_TESTIS_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TESTIS_SIZE AGA AKT1 ALMS1 ANOS1 ARL6 ARX ATRX AXL B4GAT1 BBS1 BRCA1 BRCA2 BRCC3 BRIP1 CATIP CCDC141 CCDC28B CCDC34 CDKN1C CEP112 CFTR CHD7 CHRM3 CLIC2 CT55 CTDP1 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DDB2 DDX3Y DHX37 DKC1 DMRT3 DMXL2 DNAH10 DNAJC19 DNHD1 DUSP6 ERCC2 ERCC3 ERCC4 ERCC5 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXO43 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 FOXA2 FSHB GATA4 GBA2 GDF6 GLI2 GLI3 GNAS GNRH1 GNRHR H4C5 HDAC8 HESX1 HS6ST1 HSD3B2 HSPG2 IL17RD IL1RAPL1 KCNJ6 KDM5C KISS1 KISS1R KLHL10 LEP LEPR LHCGR LHX4 MAD2L2 MAGEL2 MAP3K1 MAP3K7 MBTPS2 MCM8 MECP2 MED12 MEIOB MOV10L1 MSH5 NAA10 NANOS1 NDN NDNF NF1 NHLH2 NR0B1 NR5A1 NSMF OCA2 OGT OTX2 PALB2 PDE11A PDHA2 PHF6 PHF8 PHGDH PMM2 PNLDC1 POLA1 POU1F1 PQBP1 PRKAR1A PROK2 PROKR2 PROP1 PTEN RAB18 RAD51 RAD51C RBMX RBMY1A1 RFWD3 RLIM RNF113A RNF212 RPL10 RPL10L RSPO1 SAMD9 SATB2 SEMA3A SEMA3E SHOC1 SIM1 SLC29A3 SLC39A4 SLX4 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPAG17 SPRY4 SRA1 SRY STAG3 SYCE1 SYCP3 TAC3 TACR3 TAF4B TBC1D20 TCTN3 TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 THOC2 TOGARAM1 TSHB TSPY1 TYMS UBE2T UPF3B USP9Y VAMP7 WDR11 WRN WT1 WWOX XPA XPC XRCC2 ZDHHC9 ZFPM2 ZMYND15 ZPR1 HP_ABNORMALITY_OF_THE_THENAR_EMINENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE ADA2 EIF4A3 EMILIN1 FBXW11 FGD4 FGFR2 GATA1 HEATR3 HOXA13 RAD51C RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL4 TBX5 TSR2 HP_ABNORMALITY_OF_THE_THORACIC_CAVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY AGR2 AKT1 APOE BAP1 BCL10 BCL2 BCL6 BIRC3 BRD4 BTNL2 CYBA CYBB CYBC1 DNAJC21 EFEMP2 EFL1 EIF2AK4 EWSR1 FBLN5 FOXP1 GLMN GNPTAB HLA-B HLA-DPB1 HLA-DRB1 IRF4 LTBP1 MAGT1 MALT1 NAB2 NCF1 NCF2 NCF4 NF2 NUTM1 P4HA2 PDGFB PIK3CA PIK3CG PORCN PRKCD PTPN22 RASGRP1 RHBDF2 SBDS SMARCB1 SMARCE1 SMO SRP54 STAT6 SUFU TERT TRAF7 WT1 HP_ABNORMALITY_OF_THE_THYROID_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THYROID_GLAND ABCB11 ABCB4 ABCC6 ABCC8 ABCD1 ACP5 ADA ADA2 ADAMTSL1 ADAR ADAT3 ADCY5 AFF4 AIP AIRE AKT1 ALB ALG2 ALG8 ALMS1 ALX4 ANAPC1 APC APC2 APOE ARID1A ARID1B ARID2 ARL6IP6 ARNT2 ARVCF ASH1L ATP11A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATP7A ATP8B1 ATPAF1 ATPAF2 B3GLCT B4GALT1 BAP1 BAZ1B BCL10 BCL7B BCOR BICRA BIRC3 BMP4 BMP6 BMPR1A BRAF BTNL2 BUB1 BUB1B BUB3 BUD23 C1QBP C1S CACNA1C CACNA1S CASP10 CASR CASZ1 CCBE1 CCDC47 CD55 CDC73 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEP57 CHD7 CHD8 CHEK2 CLCNKB CLIP2 CLPB COMT CPE CTLA4 CTNNB1 CTNS CYP27A1 DACT1 DCAF17 DCLRE1C DDB1 DDOST DEAF1 DICER1 DIO1 DISP1 DLL1 DMXL2 DNAH1 DNAJC19 DNAJC30 DNM1L DPF2 DUOX2 DUOXA2 DYRK1A ECE1 EDN3 EDNRB EIF2AK3 EIF4H ELN ENPP1 EPCAM ERBB2 ERBB3 EXOSC2 EXT2 EYA1 FAN1 FANCI FARSA FAS FASLG FDX2 FGF13 FGF8 FGFR1 FKBP6 FLCN FLII FMR1 FOCAD FOXA2 FOXD3 FOXE1 FOXG1 FOXH1 FOXI1 FOXP1 FOXP3 FUCA1 FUT8 GABRA3 GABRD GAS1 GATA1 GATA4 GATA6 GCH1 GDNF GLI2 GLI3 GLIS3 GNA11 GNAS GNB1 GNB2 GNE GP1BB GPR161 GPR35 GREM1 GRIA1 GRIN2B GRM7 GTF2I GTF2IRD1 GTF2IRD2 GYG1 HABP2 HBB HDAC4 HEPACAM HESX1 HFE HID1 HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HNF1B HNRNPK HPD HRAS HSD17B3 HSPG2 HYMAI IDH1 IDH2 IFIH1 IFNG IGF2 IGSF1 IL12A IL12RB1 IL18BP IL2RA IL2RG IL6ST IL7R IMPDH2 INSR IPO8 IQSEC2 IRF4 IRF5 IRS4 ITCH IYD JAG1 JAK1 JMJD1C KANSL1 KARS1 KAT6B KATNIP KCNAB2 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KDM6A KEAP1 KISS1R KLF1 KLLN KMT2B KMT2D KRAS LEP LEPR LHX3 LHX4 LIFR LIG4 LIMK1 LMNA LRBA LRP4 LSM11 LUZP1 MAD1L1 MADD MAGEL2 MALT1 MARS1 MC2R MCM8 MDM2 MDM4 MEN1 METTL27 MID1 MINPP1 MLH1 MLH3 MLXIPL MMEL1 MMP14 MMP2 MMP23B MOGS MPI MRAP MSH2 MSH3 MSH6 MST1 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTTP NCF1 NDN NDUFB11 NEXMIF NF2 NFKB2 NIN NKX2-1 NKX2-5 NLRP1 NNT NODAL NPHS1 NR1H4 NR4A2 NRAS NRTN NSD1 NSDHL OCA2 OPA1 OTX2 PAX8 PCSK1 PDE11A PDE4D PDGFB PDPN PHF21A PI4KA PIEZO1 PIK3C2A PIK3CA PLAA PLAG1 PLAGL1 PLCG2 PLCH1 PLVAP PMM2 PMS1 PMS2 PNPLA6 POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3GL POMC POU1F1 POU2AF1 POU3F4 PPP1R15B PRDM16 PRIM1 PRKAR1A PRKCD PRKCZ PROKR2 PROP1 PTCH1 PTEN PTRH2 RAG1 RAG2 RAI1 RASGRP1 RBM28 RCBTB1 RERE RET RFC2 RMRP RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROBO1 RPL10 RPS20 RREB1 RRM2B SAA1 SALL1 SAMHD1 SASH1 SASH3 SCN4A SDHB SDHC SDHD SEC23B SEC24C SECISBP2 SEMA3C SEMA3D SEMA4A SEMA4D SETBP1 SETD2 SGPL1 SHH SIM1 SIX1 SIX2 SIX3 SKI SKIC2 SKIC3 SLC12A3 SLC16A2 SLC25A36 SLC25A4 SLC26A4 SLC37A4 SLC5A5 SLC6A17 SLF2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMO SNRPN SOCS1 SOX11 SOX3 SOX4 SPEN SPIB SPOP SRD5A3 SREBF1 SRGAP1 SRY STAG2 STAR STAT1 STAT3 STAT5B STEAP3 STIL STUB1 STX1A SUFU SUGCT SUPT16H SVBP TANGO2 TBC1D24 TBCK TBL1X TBL2 TBX1 TBX2 TCF4 TCOF1 TDGF1 TERT TF TG TGFBR2 TGIF1 THRA THRB TIAM1 TMEM270 TMEM67 TNFSF15 TNPO3 TOM1 TONSL TP53 TPO TRAF7 TRAPPC9 TREX1 TRH TRHR TRIP13 TRMT10A TRPV6 TSC1 TSC2 TSHB TSHR TTC7A TTR TWNK TXNRD2 UBE4B UBR1 UBR7 UFD1 USF3 USP9X VPS37D WDR11 WDR4 WFS1 WRN XRCC4 YRDC YY1 ZBTB20 ZFAT ZFP57 ZIC2 HP_ABNORMALITY_OF_THE_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE ABCC8 ACTB ACVRL1 ADGRG1 ADNP ADPRS AFF3 AFF4 AGA AGPAT2 AGTPBP1 AIFM1 AIP AKT1 ALG3 ALG6 ALG8 ALS2 ALX3 AMN AMPD2 AP1S3 ARID1A ARSB ASAH1 ATP11A ATP13A2 ATP1A2 ATP6V1B2 ATRX B2M B9D1 B9D2 BAP1 BAZ1B BCL7B BCR BMP4 BSCL2 BTK BUD23 C2CD3 CACNA1A CASP10 CAV1 CAVIN1 CC2D2A CCDC22 CCDC47 CDC42BPB CDCA7 CDKN1C CEP120 CEP290 CHCHD10 CHRNG CLIC2 CLIP2 CLTRN COG1 COG7 COL11A1 COL11A2 COL2A1 COL7A1 CPLANE1 CPSF3 CRKL CRPPA CSNK2A1 CSNK2B CSPP1 CUBN CUL4B DDX59 DHCR7 DHX30 DLK1 DNAJC30 DNM1 DNMT3B DOK7 DUOX2 DUOXA2 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 ECEL1 ECM1 EDN1 EDNRA EGR2 EHMT1 EIF4H ELN ELP1 ENG ERLIN2 EXOSC3 EXOSC8 EXOSC9 FAM111A FAM149B1 FAM20C FAS FASLG FBXO28 FDX2 FIBP FIG4 FKBP6 FKRP FLNA FOS FOXE1 FOXG1 FRAS1 FREM2 FRG1 FTO FUCA1 FXR1 FZD2 GAA GATA1 GIPC1 GJB2 GJB6 GLB1 GLI3 GMPPB GNAI3 GNE GNPTAB GNS GPC3 GPC4 GPR101 GRIK2 GRIP1 GSN GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C5 HELLS HESX1 HEXB HLA-B HLA-DRB1 HNRNPK HRAS HS2ST1 HYMAI IDS IDUA IFT140 IFT80 IGF2 IGHMBP2 IL36RN IL6ST INPP5E INSR INTU IPO8 IYD KAT6B KCNH1 KCNJ11 KCNK9 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KDM5C KIAA0586 KIAA0753 KIF1A KIF7 KLLN KMT2D KRT14 KRT5 KRT6A KY LAMA2 LARGE1 LGI3 LHX3 LHX4 LIFR LIMK1 LIMS2 LMBRD1 LMNA LMNB1 LMNB2 LRP12 MAN2B1 MAN2C1 MAPK1 MBD5 MBTPS2 MCTP2 MDM4 MED13L MED25 MEF2C MEG3 MEGF10 METTL27 MGAT2 MID1 MKS1 MLXIPL MMACHC MMP1 MORC2 MPZ MT-TE MTPAP MYH3 MYMK MYMX NCF1 NDUFS4 NEFL NEK1 NEK9 NEU1 NF2 NFASC NFIX NKX2-1 NKX2-5 NOP56 NOTCH2NLC NRXN1 NTRK1 NXN OCA2 OFD1 OPTN OTX2 P4HA2 PANK2 PAX8 PDE11A PDE6D PDGFB PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIGB PIGS PIGW PIK3C2A PIK3CA PKP1 PLAGL1 PLCB4 PLXND1 PMP22 POLG POLR1B POLR1C POLR1D POMGNT1 POMK POMT1 POMT2 POP1 POU1F1 POU4F1 PPARG PQBP1 PRKAG2 PRKAR1A PRKCD PROP1 PRR12 PRRT2 PRRX1 PRUNE1 PRX PSMB8 PTDSS1 PTEN PTH1R PTPN22 RAB3GAP1 RAB3GAP2 RALGAPA1 RASGRP1 RBBP8 RBM10 RERE RETREG1 REV3L RFC2 RILPL1 RIPK4 RMND1 RMRP RNF125 ROR2 RPGRIP1 RPGRIP1L RSPO2 RTL1 RUNX2 SBF2 SCN1A SCN9A SCNM1 SDHB SDHC SDHD SEC23B SERPING1 SET SETBP1 SGCG SH3TC2 SLC25A21 SLC25A24 SLC25A46 SLC26A4 SLC35B2 SLC35C1 SLC37A4 SLC39A4 SLC46A1 SLC52A2 SLC52A3 SLC5A5 SLC6A19 SMARCA4 SMARCB1 SMARCE1 SMN1 SMN2 SMO SNIP1 SNRPB SNRPN SNX14 SOX5 SOX9 SPTBN1 SPTLC1 SREBF1 SRPX2 STX1A SUFU SYNGAP1 SYT2 TAF1 TBCD TBCK TBL2 TBX15 TBX22 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TERT TG TGDS THRA TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TOE1 TOPORS TPO TRAF3IP2 TRAF7 TRANK1 TRIM37 TRIP11 TRMU TRPV3 TSHB TSHR TSPYL1 TUBB4A TXNDC15 UBA1 UBE3A USF3 VAC14 VCP VPS13A VPS13B VPS33A VPS37D VRK1 VWA1 WDPCP WDR35 WNK1 WNT10A WNT5A WRAP53 XPNPEP2 ZBTB24 ZFP57 ZMPSTE24 ZNF699 HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE FKRP GMPPB LARGE1 POMT1 POMT2 HP_ABNORMALITY_OF_THE_TONSILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONSILS ABCA1 ADA AKT2 ARVCF BLM BTK C3 CA2 CD40LG COMT CYBC1 DCLRE1C ELANE GP1BB HIRA IDS IDUA IGHG2 IGKC IL2RA IL2RG JMJD1C MPEG1 MYO5A PIK3CD PIK3R1 PTEN RIPK1 RREB1 RSPRY1 SCNN1A SCNN1B SCNN1G SEC24C TBX1 UFD1 ZBTB7A HP_ABNORMALITY_OF_THE_UMBILICAL_CORD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD ADGRG6 C1QC CACNA1C CCDC22 CLPB DDX6 DPF2 DPYSL5 F13A1 F13B F7 FANCB FANCF FAT4 FCGR3B FOXF1 G6PC3 GATA6 GNB2 HNRNPK HOXD13 HSPG2 IL6ST ITGB2 LMNA MCTP2 MKS1 MTHFS MUSK MYD88 MYH7 NRAS PACS1 PAK2 PGAP2 PGAP3 PHGDH PIGL PIGO PIGV PIGW PIGY POR QRICH1 RAC2 RBCK1 SCARF2 SERPINE1 SLC30A9 SMARCD2 SPECC1L STAG1 TAPT1 THSD1 TLK2 TRAF7 TWIST2 VPS35L WASHC5 WNT3 WT1 ZMPSTE24 ZNF699 HP_ABNORMALITY_OF_THE_UPPER_ARM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_ARM AGPS ALG12 ATP7A B3GALT6 BMP1 COL2A1 CREB3L1 CYP26B1 DNM2 DONSON DYM EMD ESCO2 EZH2 FANCB FGF9 FGFR1 FGFR2 FHL1 FLNA FLNB FZD2 GDF5 GNAS GNPAT GNPTAB GPC6 GSC HNRNPDL IFT122 IHH KIAA0753 LAMA5 LBR LMBR1 LMNA LMX1B LONP1 LYSET MACROH2A1 MORC2 MTHFS MTMR14 MYSM1 NOG PEX5 PITX1 POLR3A POR PRKG2 PTDSS1 RBM8A RECQL4 RNU4ATAC RSPO2 SALL4 SGCD SHOX SLC26A2 SNRPB SPARC SRCAP STX16 SUCLG1 SYNE1 SYNE2 TBX15 TBX3 TBX5 TCAP TGDS TGFB1 TMEM43 TNFRSF11B TONSL TRPV4 WNT7A ZIC3 HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT ACP5 ADA ADA2 ADARB1 ADNP AFF4 AGA AHDC1 AICDA ALG12 ALMS1 ALX1 ALX3 AMER1 ANG ANO3 ANXA11 APC ARHGEF1 ARID1A ARID1B ARID2 ARSB ARSL ARVCF ASAH1 ASXL3 ATM ATP6V1E1 ATRX ATXN2 BLM BLNK BRF1 BTD BTK C2CD3 C4B CACNA1C CAPN15 CARMIL2 CASR CAT CCDC103 CCDC39 CCDC40 CCDC65 CCNF CCNO CD19 CD4 CD79A CD79B CD81 CDKN2A CEACAM3 CEACAM6 CENPE CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP52 CFAP74 CFI CFTR CHCHD10 CHD7 CHEK2 CHMP2B CIITA CILK1 CLCA4 CLPB COG4 COL11A1 COL12A1 COL5A1 COL5A2 COMT CORO1A CR2 CREBBP CSPP1 CTC1 CTLA4 CTSK CXCR4 CYBA CYBB CYBC1 DAO DCLRE1C DCTN1 DCTN4 DDRGK1 DDX3X DHCR7 DKC1 DLK1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DNMT3B DOCK8 DPF2 DPP9 DRC1 DTYMK DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EDN1 EDNRA EFL1 EGFR EIF4A3 ELANE EP300 EPHA4 EPHB4 ERBB4 EXTL3 F12 FANCB FBXW7 FCGR2A FCGR3A FCHO1 FERMT1 FGF10 FGFR2 FGFR3 FIG4 FLNA FLNB FMR1 FOXE1 FOXJ1 FOXN1 FOXP1 FRAS1 FREM2 FUCA1 FUS G6PC3 GABRG2 GALC GALNS GAS2L2 GAS8 GCLC GFI1 GIPC1 GJA1 GLB1 GLE1 GLI3 GLT8D1 GMNN GNPTAB GNS GP1BB GRIN2A GRIP1 GSTM3 GUSB H3-3A H3-3B HAAO HCK HDAC4 HFE HGSNAT HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HNRNPA1 HNRNPR HOXD13 HPS6 HS3ST6 HSPG2 HYDIN HYLS1 HYOU1 ICOS IDH1 IDS IFIH1 IFT80 IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IKBKG IL10RB IL17RA IL21R IL2RG IL6R IL6ST IL7R INTU IRF2BP2 IRF8 IVNS1ABP JAK3 JMJD1C KANSL1 KAT6A KAT6B KATNIP KCNJ2 KCNMA1 KCNN4 KDM5C KIF22 KIF7 KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LBR LCK LEP LEPR LIG4 LMNA LONP1 LRBA LRP12 LRP4 LRRC56 LRRC8A LTBP3 LTBP4 MAGT1 MAN2B1 MAP3K7 MATR3 MBTPS2 MCIDAS MDFIC MDM2 MDM4 MEG3 MEIS2 MGAT2 MGP MID1 MIF MKS1 MLH1 MPDU1 MS4A1 MSH2 MSH6 MST1R MT-CYB MYMK MYMX MYSM1 NAGLU NBN NCF1 NCF2 NCF4 NEFH NEK1 NEK10 NF1 NFIX NFKB1 NFKB2 NFKBIA NHP2 NIN NLRP1 NLRP12 NME5 NME8 NOP10 NOTCH2 NOTCH2NLC NPM1 NRCAM ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPTN ORC6 P4HA2 PABPN1 PARN PCNT PDE11A PFN1 PGM3 PHIP PIK3CD PIK3R1 PKDCC PLG PLP1 PLVAP PNP POLE POLR3A PON1 PON2 PON3 POR PORCN PPARGC1A PPM1D PRKAR1A PRKCD PRMT7 PRPH PRPS1 PRRX1 PRTN3 PSAP PSMB4 PSMB8 PSMB9 PTEN PTH1R PTPN22 PUF60 RAC2 RAF1 RAG1 RAG2 RAI1 RALGAPA1 RELB RFX5 RFX7 RFXANK RFXAP RILPL1 RNF168 ROBO1 RPGR RPL10 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RSPRY1 RTEL1 RTL1 RUNX2 SALL4 SASH3 SATB2 SBDS SCARF2 SCN4A SCNN1A SCNN1B SCNN1G SEC24C SEMA3E SERPINA1 SERPING1 SETBP1 SF3B4 SFRP4 SGSH SH2D1A SH3KBP1 SHH SIAH1 SIX2 SLC11A1 SLC26A2 SLC26A9 SLC29A3 SLC37A4 SLC39A7 SLC6A14 SLC9A3 SMAD2 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMCHD1 SNIP1 SOD1 SOX11 SOX4 SOX9 SPAG1 SPEF2 SPI1 SPTBN1 SQSTM1 SRP19 SRP54 SRPX2 STAT1 STAT3 STK11 STK36 STK4 STX1A STX3 STXBP2 SYT1 TAF1 TAF15 TAFAZZIN TAP1 TAP2 TAPBP TARDBP TBC1D24 TBK1 TBX1 TBX3 TCF3 TCIRG1 TCOF1 TCTN3 TERC TERT TGFB1 TINF2 TMCO1 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF12 TOM1 TONSL TP53 TP63 TREM2 TRIM37 TSPYL1 TTC12 TYMS UBE3B UBQLN2 UFC1 UFD1 UNC119 UNC13A UNG UQCRH USB1 USP26 USP9X VAPB VCP VPS13B WAS WDR35 WIPF1 WNT3 WRAP53 WRN XIAP XPNPEP2 ZAP70 ZBTB24 ZBTB7A ZIC3 ZMYND10 ZNF341 ZNF699 HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_URINARY_TRACT AAGAB ABCA12 ABCC6 ABCC8 ABCG5 ABCG8 ACE ACP5 ACSL4 ACTB ACTG1 ACTG2 ACTN4 ACVRL1 ADA ADA2 ADAMTS13 ADAMTS3 ADAMTSL1 ADAT3 ADCY10 ADGRG2 ADNP AFF3 AFF4 AGGF1 AGPAT2 AGT AGTR1 AGXT AHI1 AIP AIRE AKR1D1 AKT1 AKT3 ALDH18A1 ALDH4A1 ALDOA ALDOB ALG1 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALPL ALX4 AMER1 AMMECR1 AMN ANKFY1 ANKLE2 ANKRD17 ANKS6 ANLN ANOS1 ANTXR1 AP1S3 AP2S1 APC APC2 APOA1 APOB APOE APOL1 APPL1 APRT AQP2 ARHGAP24 ARHGDIA ARID1A ARID1B ARID2 ARL3 ARL6 ARL6IP6 ARMC5 ARNT2 ARPC4 ARSK ARVCF ARX ASPM ASPRV1 ASXL1 ASXL2 ATN1 ATP1A1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATPAF1 ATPAF2 ATRX AURKA AVIL AVPR2 AXIN1 AXIN2 B2M B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BANK1 BAP1 BAX BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCS1L BICC1 BICRA BLK BLM BMP4 BMPER BMPR1A BNC2 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BSND BTNL2 BUB1 BUB1B BUB3 BUD23 C1QA C1QBP C1S C2CD3 C3 C4A C4B CA2 CACNA1D CACNA1S CAD CAMK2A CAMKMT CAPN15 CASK CASP10 CASR CASZ1 CAV1 CC2D2A CCBE1 CCDC141 CCDC22 CCDC28B CCN2 CCND1 CCND2 CCNQ CCR1 CCR6 CD109 CD151 CD2AP CD46 CD81 CD96 CDC42 CDC42BPB CDC45 CDC73 CDH11 CDK4 CDK5RAP2 CDK6 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEL CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP164 CEP19 CEP290 CEP41 CEP55 CEP57 CEP63 CEP83 CFAP418 CFB CFH CFHR1 CFHR3 CFHR5 CFI CFTR CHD4 CHD7 CHEK2 CHKA CHN1 CHRM3 CHRNA3 CHST14 CHUK CILK1 CISD2 CIT CLCA4 CLCN3 CLCN5 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLDN2 CLEC7A CLIP2 CLPB CNNM2 COA8 COG1 COG6 COG7 COL14A1 COL18A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COLEC10 COLEC11 COMT COPA COPB2 COQ2 COQ6 COQ7 COQ8B CORIN COX14 CPLANE1 CPLX1 CPOX CPT1A CPT2 CR2 CRB2 CREBBP CRTAP CSPP1 CTBP1 CTH CTLA4 CTNNB1 CTNS CTU2 CUBN CWC27 CYB561 CYBC1 CYP24A1 CYP4F22 DAAM2 DACT1 DCC DCDC2 DCHS1 DCLRE1C DCTN4 DDB1 DDX59 DDX6 DEAF1 DGKE DHCR24 DHCR7 DHDDS DHODH DHX16 DHX37 DICER1 DIS3L2 DISP1 DKC1 DLC1 DLK1 DLL1 DLL3 DLL4 DLST DMP1 DMRT3 DMXL2 DNA2 DNAJB11 DNAJC21 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPF2 DPH1 DPH2 DPYSL5 DSE DSTYK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP EDNRA EDNRB EFEMP2 EHHADH EHMT1 EIF2AK3 EIF4H ELN ELP1 EMP2 EN1 ENG ENPP1 EP300 EPAS1 EPG5 ERAP1 ERBB3 ERCC4 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH ETS1 EVC EVC2 EXT1 EXT2 EXTL3 EYA1 F10 F2 F5 F8 FAH FAM149B1 FAM20A FAM20C FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBLN5 FBN1 FBXL4 FBXW11 FCGR2A FCGR2B FCGR3B FEZF1 FGA FGF10 FGF13 FGF17 FGF20 FGF23 FGF8 FGFR1 FGFR2 FGFR3 FH FIBP FIG4 FIP1L1 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT3 FLT1 FN1 FOCAD FOXC2 FOXE1 FOXF1 FOXH1 FOXI1 FOXP1 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FUT8 FUZ FXYD2 G6PC1 G6PC3 GABRD GALNT3 GANAB GAPVD1 GAS1 GATA1 GATA3 GATA4 GATA6 GATM GBA1 GBE1 GCDH GCK GCLC GCM2 GDF2 GDF3 GDF6 GEMIN4 GFRA1 GLA GLI1 GLI2 GLI3 GLIS2 GLIS3 GLMN GNA11 GNAO1 GNAS GNB1 GNB2 GNPTAB GON7 GP1BA GP1BB GP9 GPC3 GPC4 GPKOW GPR35 GRB10 GREB1L GRHPR GRIA3 GRIN1 GRIP1 GRM7 GSN GSTM3 GTF2I GTF2IRD1 GTF2IRD2 H19 H4C3 H4C5 H4C9 HAAO HABP2 HBB HDAC4 HDAC8 HEATR3 HELLPAR HES7 HESX1 HFE HGD HIC1 HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGA2 HMOX1 HNF1A HNF1B HNF4A HNRNPH1 HNRNPK HNRNPU HOGA1 HOXA13 HOXD13 HPRT1 HPS1 HPSE2 HRAS HS2ST1 HS6ST1 HSD11B2 HSD17B4 HSPA9 HSPG2 HYLS1 HYMAI IARS1 IDH1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 IGHG1 IKZF1 IL10 IL12A IL12A-AS1 IL17F IL17RA IL17RC IL17RD IL23R IL2RG IL36RN IL6 IL7R INF2 INPP5E INS INSL3 INSR INTS1 INTU INVS IPO8 IQCB1 IQSEC2 IRAK1 IRF2BP2 IRF5 ISL1 ITGA2 ITGA2B ITGA3 ITGA6 ITGA8 ITGAM ITGB3 ITGB4 ITPR3 JAG1 JAK1 JAM3 JAZF1 JMJD1C KANK2 KANSL1 KARS1 KAT5 KAT6A KAT6B KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ2 KCNJ5 KCNN4 KCNQ1 KCNQ1OT1 KCTD1 KDM6A KEAP1 KIAA0319L KIAA0586 KIAA0753 KIF14 KIF1B KIF7 KIFBP KIRREL1 KITLG KL KLF11 KLLN KLRC4 KMT2A KMT2C KMT2D KNL1 KNSTRN KRAS KRT17 KYNU LAGE3 LAMA3 LAMA5 LAMB2 LAMB3 LAMC2 LARGE1 LARS2 LCAT LDHA LDLR LDLRAP1 LEMD3 LETM1 LFNG LHX1 LIG1 LIG4 LIMK1 LIPN LMAN1 LMBRD1 LMNA LMNB1 LMNB2 LMOD1 LMX1B LONP1 LPIN1 LPIN2 LRIG2 LRP2 LRP4 LRP5 LTBP1 LTBP4 LUZP1 LYZ LZTFL1 MAD2L2 MAFB MAGED2 MAGI2 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPKAPK5 MAPKBP1 MAPRE2 MARS1 MASP1 MAX MBTPS2 MCC MCFD2 MCM5 MCM7 MCPH1 MCTP2 MDH2 MDM2 MECP2 MED11 MED12 MED25 MEFV MEG3 MEN1 MEOX1 MESP2 MET METTL27 METTL5 MFSD2A MGME1 MIA3 MID1 MIF MINPP1 MITF MKKS MKS1 MLH1 MLH3 MLXIPL MMACHC MME MMP1 MMP23B MMUT MNX1 MOCOS MOCS1 MOCS2 MPDU1 MPI MRPL3 MRPS22 MRPS34 MSH2 MSH3 MSH6 MST1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTRR MTX2 MUC1 MVK MYCN MYD88 MYH11 MYH9 MYL9 MYLK MYMK MYMX MYO1E MYO5B MYOCD MYOD1 MYRF NAA10 NABP1 NADK2 NADSYN1 NARS2 NBN NCAPD3 NCAPG2 NCF1 NDNF NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECTIN1 NEK1 NEK8 NELFA NEU1 NEUROD1 NEUROD2 NEXMIF NF1 NFIA NFS1 NHERF1 NIPAL4 NIPBL NKX2-1 NLRP3 NOD2 NODAL NOS1AP NOTCH2 NOTCH3 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NR0B1 NR5A1 NRAS NRIP1 NSD1 NSD2 NSDHL NSUN2 NTRK1 NUBPL NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 NXN OBSCN OCLN OCRL OFD1 OGG1 OPLAH OSGEP OTUD5 OXGR1 P4HA2 PACS1 PAFAH1B1 PAH PAK2 PALB2 PAX1 PAX2 PAX4 PAX6 PAX7 PBRM1 PBX1 PC PCK1 PCK2 PCSK9 PDCD1 PDCD6IP PDE6D PDGFRB PDGFRL PDHA1 PDPN PDSS2 PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGAP2 PGAP3 PGK1 PGM1 PGM3 PHC1 PHEX PHF21A PHGDH PHKA2 PHKB PHKG2 PHYH PI4KA PIDD1 PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PKD1 PKD2 PKDCC PKHD1 PLA2G2A PLAGL1 PLCD1 PLCE1 PLD1 PLEC PLG PLVAP PLXNA1 PML PMM2 PNKP PNPLA2 PNPLA6 POGZ POLE POLR3A POLRMT POMT1 POMT2 POR PORCN POT1 POU3F4 POU6F2 PPFIBP1 PPM1B PPOX PPP1R15B PPP2R1A PPP2R3C PPP3CA PQBP1 PRCC PRDM16 PRDX1 PREPL PRF1 PRIM1 PRKACA PRKACB PRKAG2 PRKAR1A PRKCD PRKCSH PRKCZ PRMT7 PRODH PROK2 PROKR2 PRPS1 PRTN3 PSMC1 PSMD12 PTCH1 PTEN PTH PTH1R PTPN11 PTPN12 PTPN22 PTPRJ PTPRO PUF60 PUS3 PXK PYCR2 PYGL PYGM RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAD54B RAF1 RAG1 RAG2 RAI1 RALGAPA1 RARA RARB RASA1 RASGRP1 RBBP8 RBCK1 RBM10 RBM8A RECQL4 REN RERE REST RET RFC2 RFWD3 RFX7 RIPK4 RIPPLY2 RMND1 RMRP RNF139 RNU4ATAC RNU7-1 ROBO1 ROBO2 ROR2 RORA RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAGD RREB1 RRM2B RSPO2 RTL1 RTTN RYR1 SAA1 SALL1 SALL4 SARS1 SARS2 SASS6 SAT1 SBDS SC5D SCAPER SCARB2 SCARF2 SCLT1 SCN1B SCN2A SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC61A1 SEC63 SEMA3A SEMA3E SEMA4A SEMA4D SERPINA1 SERPINF2 SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SGPL1 SH2B1 SHANK3 SHH SHOC2 SHPK SI SIK1 SIX1 SIX2 SIX3 SIX5 SKI SKIC2 SKIC3 SLC11A1 SLC12A1 SLC12A3 SLC17A5 SLC1A1 SLC1A2 SLC22A12 SLC25A11 SLC25A20 SLC25A22 SLC26A1 SLC26A4 SLC26A9 SLC29A3 SLC2A2 SLC2A9 SLC30A9 SLC32A1 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC36A2 SLC37A4 SLC3A1 SLC41A1 SLC4A1 SLC4A2 SLC4A4 SLC5A1 SLC5A2 SLC6A14 SLC6A17 SLC7A7 SLC7A9 SLC9A3 SLX4 SMAD4 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMOC1 SMS SNAI2 SNAP29 SNRPB SNRPN SOCS1 SON SOS1 SOS2 SOX10 SOX11 SOX17 SOX18 SOX4 SOX9 SPART SPECC1L SPEN SPINK5 SPINT2 SPOP SPP1 SPRED1 SPRY2 SPRY4 SPTBN1 SRC SRCAP SREBF1 SRP54 SRY SSR4 STAG1 STAMBP STAT1 STAT2 STAT3 STAT4 STAT5B STIL STIM1 STK11 STOX1 STRA6 STRADA STS STX11 STX1A STX3 STXBP1 STXBP2 SUCLG1 SUFU SULT2B1 SURF1 TACR3 TAF13 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBC1D7 TBC1D8B TBCK TBL1XR1 TBL2 TBX1 TBX15 TBX18 TBX22 TBX3 TBXT TCF4 TCN2 TCTN1 TCTN2 TCTN3 TDGF1 TELO2 TFAP2A TFE3 TGFB1 TGIF1 TGM1 THBD THOC6 TIMMDC1 TKT TLR2 TLR4 TLR7 TMCO1 TMEM107 TMEM126B TMEM127 TMEM138 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TNFAIP3 TNFSF4 TNIP1 TNXB TOGARAM1 TOM1 TOPORS TOR1A TP53 TP53RK TP63 TPRKB TRAF3IP1 TRAF3IP2 TRAPPC10 TRAPPC14 TREX1 TRIM28 TRIM32 TRIM37 TRIM8 TRIP11 TRIP13 TRMT5 TRNT1 TRPC6 TRPS1 TRPV6 TRRAP TSC1 TSC2 TSR2 TTC21B TTC26 TTC8 TTR TULP3 TWIST2 TXNDC15 TXNL4A TYR UBA2 UBAC2 UBE2A UBE2L3 UBE2T UBE4B UBR1 UFC1 UFD1 UMOD UMPS UNC13D UNC45A UQCC2 USF3 USP18 USP8 USP9X VAC14 VAMP7 VANGL1 VDR VHL VIPAS39 VPS33A VPS33B VPS35L VPS37D VPS45 WAC WARS1 WAS WASHC5 WBP11 WDPCP WDR11 WDR19 WDR35 WDR4 WDR62 WDR73 WFS1 WIPF1 WLS WNT3 WNT4 WNT5A WNT7B WNT9B WRN WT1 WWOX XDH XPNPEP3 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YRDC YWHAE YY1 YY1AP1 ZAP70 ZBTB16 ZBTB18 ZEB2 ZFP57 ZFPM2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF423 ZNF592 ZNF687 ZNF699 ZNFX1 ZPR1 HP_ABNORMALITY_OF_THE_URETER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETER ACTB ACTG1 ACTG2 AFF4 ALG9 ANKLE2 APC2 APRT AQP2 ARID1B ARNT2 ARVCF ARX ASPM ASXL1 ATP7A ATRX AVPR2 AXIN1 B3GLCT B9D1 B9D2 BAZ1B BBS12 BCL7B BCOR BICC1 BNC2 BPTF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUD23 CASK CC2D2A CCBE1 CCNQ CDC45 CDH11 CDK5RAP2 CDK6 CDKL5 CDKN1C CENPE CENPJ CEP135 CEP152 CEP290 CEP55 CEP63 CHD4 CHD7 CHRM3 CHRNA3 CIT CLIP2 COL18A1 COMT COPB2 CPT2 CREBBP CSPP1 CTLA4 DACT1 DCDC2 DDB1 DDX6 DEAF1 DHCR7 DLL3 DMXL2 DNAJC30 DNMT3A DSTYK DVL3 DYNC2LI1 EBF3 EDNRA EFEMP2 EHMT1 EIF4H ELN EP300 EPG5 ERCC4 ERCC6 ERCC8 EVC EVC2 EXT1 EYA1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FGF10 FGFR2 FGFR3 FIBP FKBP6 FLII FLNA FOXF1 FREM2 FUZ GATA3 GATA6 GLI1 GLI3 GNAO1 GNB1 GP1BB GPC3 GPC4 GREB1L GRHPR GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 H4C9 HAAO HDAC8 HES7 HIRA HLA-DPA1 HLA-DPB1 HNF1B HNRNPK HNRNPU HOXA13 HPSE2 HS2ST1 HSPA9 HSPG2 IFT140 IGF2 IQSEC2 ISL1 ITGA6 ITGB4 JAG1 JMJD1C KANSL1 KAT5 KCNA1 KCNQ1 KCNQ1OT1 KCTD1 KDM6A KIF14 KIFBP KMT2C KMT2D KNL1 KRAS LAMA3 LAMB3 LAMC2 LFNG LHX1 LIMK1 LMNA LMOD1 LONP1 LRIG2 LTBP1 MAD2L2 MAP3K7 MAPKAPK5 MAPKBP1 MAPRE2 MBTPS2 MCM7 MCPH1 MED12 MESP2 METTL27 METTL5 MFSD2A MID1 MKKS MKS1 MLXIPL MNX1 MYCN MYH11 MYLK MYOD1 NAA10 NADSYN1 NCAPD3 NCAPG2 NCF1 NDUFAF3 NECTIN1 NEUROD2 NFIA NIPBL NKX2-1 NODAL NPHP3 NRIP1 NSD1 NUP37 OTUD5 PAK2 PALB2 PAX2 PAX6 PBX1 PEX6 PHC1 PIEZO2 PIGA PIGL PIGN PIGO PIGP PIGQ PIGT PLD1 PLEC PLXNA1 PNKP POLR3A POR PORCN PPP3CA PRKACA PRKACB PRMT7 PRPS1 PRTN3 PSMD12 PTPN22 PUF60 PYCR2 RAB23 RAD21 RAD51 RAD51C RAI1 RALGAPA1 RARB RBCK1 RBM8A RECQL4 RERE RFC2 RFWD3 RIPK4 RIPPLY2 RNU4ATAC ROBO2 RPGRIP1 RPGRIP1L RPL11 RREB1 SALL1 SALL4 SARS1 SASS6 SCN1B SCN2A SDHA SDHAF1 SDHB SDHD SEC24C SEMA3E SETBP1 SETD2 SF3B2 SH2B1 SHANK3 SIK1 SIX1 SIX5 SLC22A12 SLC25A22 SLC26A1 SLC32A1 SLC35A2 SLC6A17 SLX4 SMC1A SMC3 SOS1 SOS2 SOX17 SPINT2 SPOP STAMBP STIL STK11 STRA6 STX1A TAF13 TBL2 TBX1 TBX18 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TNXB TP63 TRAPPC10 TRAPPC14 TRIM8 TRPS1 TRRAP TXNDC15 UBE2A UBE2T UFC1 UFD1 UMPS UNC45A VANGL1 VPS37D WARS1 WDR62 WFS1 WNT7B XRCC2 YY1 ZEB2 ZMIZ1 ZMPSTE24 ZMYM2 HP_ABNORMALITY_OF_THE_URETHRA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETHRA ABL1 ACTA1 ADA2 ADAT3 AFF4 ALG12 ANKRD11 APC2 AR ARCN1 ARID1A ARID1B ARID2 ARL6IP6 ARVCF ARX ATP6AP2 ATR ATRX B3GLCT B9D1 B9D2 BAZ1B BCL7B BCOR BDNF BICRA BNC2 BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1B BUD23 C2CD3 CARS1 CASZ1 CC2D2A CCDC22 CCDC8 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDKN1C CDT1 CEP152 CEP290 CHRM3 CHRNA3 CHRNG CILK1 CLIP2 CLMP COG1 COL3A1 COL7A1 COLEC10 COLEC11 COMT COX7B CPLX1 CREBBP CSPP1 CTBP1 CTC1 CUL4B CUL7 CUX1 CYB5A CYP11A1 CYP17A1 CYP21A2 DACT1 DCHS1 DHCR7 DHX37 DKC1 DLL3 DMRT3 DNAJC19 DNAJC30 DPF2 DPP9 DPYSL5 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EFEMP2 EFNB1 EHMT1 EIF4H ELN EP300 EPG5 ERCC4 ERMARD ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN5 FBXL4 FDFT1 FERMT1 FGFR1 FGFR2 FGFRL1 FIG4 FKBP6 FLNA FLT4 FOCAD FOXC1 FOXF1 FRAS1 FREM2 FZD2 GABRD GATA1 GATA4 GATAD2B GLI1 GLI3 GMNN GNA11 GP1BB GPC3 GPC4 GRB10 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C11 HBA1 HBA2 HCCS HDAC8 HEATR3 HES7 HIRA HLA-B HMGA2 HNF1B HNRNPH1 HOXA13 HOXD13 HPSE2 HSD17B3 HSD3B2 HSPG2 HUWE1 HYLS1 IFT80 IGF2 IKZF1 ISL1 ITGA6 ITGB4 JMJD1C KANSL1 KAT5 KAT6B KCNAB2 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIAA0753 KIF7 KIFBP KLF1 KLHL40 KLHL41 KMT2D KRAS LAMA3 LAMB3 LAMC2 LETM1 LFNG LIG4 LIMK1 LMNA LMOD3 LRIG2 LRPPRC LSS LTBP1 LUZP1 MAB21L2 MAD2L2 MAMLD1 MAP2K1 MAP3K1 MAP3K7 MAPRE2 MBTPS2 MCTP2 MECP2 MED12 MED12L MED25 MESP2 METTL27 MID1 MKKS MKS1 MLXIPL MMP1 MMP23B MNX1 MTM1 MTOR MYMK MYMX MYRF NAA10 NCF1 NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NELFA NHP2 NIPBL NKX2-1 NOP10 NOTCH2 NPM1 NR0B1 NR2F2 NR5A1 NSD1 NSD2 NSUN2 OBSL1 OGT ORC1 ORC4 ORC6 OTUD5 PAICS PALB2 PARN PAX6 PCNT PDE4D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGG PIGN PITX2 PKP1 PLAG1 PLD1 PLEC PNPLA6 POLA1 POLE POLR3A POR PPP1R12A PQBP1 PRDM16 PRKACA PRKACB PRKCZ PRPS1 PSMD12 PSPH PTDSS1 PTPN11 PTPRF PUF60 RAC1 RAD21 RAD51 RAD51C RAF1 RBBP8 RERE RFC2 RFWD3 RIN2 RIPPLY2 RLIM RNU12 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPO1 RTEL1 RTTN SALL1 SAMD9 SCUBE3 SEC24C SETBP1 SETD2 SETD5 SIAH1 SIN3A SIX6 SKI SKIC3 SLC25A10 SLC31A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMS SOX11 SOX2 SOX4 SOX9 SPEN SPRED1 SPTBN1 SRCAP SRD5A2 SRY SSR4 STAR STX1A SUCLG1 SYNGAP1 TAPT1 TBL2 TBX1 TBX22 TCF12 TCTN1 TCTN2 TCTN3 TERC TERT TFAP2A THOC6 TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM63A TMEM67 TMEM70 TMEM94 TONSL TP63 TRIM8 TSR2 TTC8 TUBB TXNDC15 TYMS UBA1 UBE2A UBE2T UBE4B UBR1 UFD1 USB1 USP9X VAC14 VAMP7 VPS35L VPS37D WASHC5 WDR35 WNT3 WNT4 WNT5A WNT7A WRAP53 WT1 WWOX XRCC2 ZEB2 ZFPM2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699 HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY AASS ABCA12 ABCC2 ABCC6 ABCC8 ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACE ACP5 ACSF3 ACSL4 ACTN4 ACVR1B ACVRL1 ADA ADA2 ADAMTS13 ADCY10 ADNP AGA AGGF1 AGK AGT AGTR1 AGXT AGXT2 AHI1 AKR1D1 ALAD ALDH18A1 ALDH4A1 ALDH5A1 ALDH6A1 ALDOA ALDOB ALG1 ALG5 ALG9 ALK ALMS1 ALOX12B ALOXE3 ALPL AMMECR1 AMN AMT ANKFY1 ANKS6 ANLN ANO5 AP1S3 AP2S1 APC APC2 APOA1 APOE APOL1 APPL1 APRT AQP2 ARG1 ARHGAP24 ARHGDIA ARL3 ARL6 ARNT2 ARSB ARSK ASL ASPA ASPH ASPRV1 ASS1 ATAD3A ATIC ATP11C ATP1A1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP7A ATP7B ATPAF1 ATPAF2 ATRX AUH AVIL AVPR2 B2M BANK1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCKDHA BCKDHB BCL7B BCOR BCR BCS1L BICC1 BLK BLM BLVRA BNC2 BRCA1 BRCA2 BRD4 BRIP1 BSND BTD BTK BTNL2 BUD23 C1QA C1QBP C3 C4A C4B CA2 CA5A CACNA1S CAD CAMKMT CASK CASP10 CASR CAV1 CBS CC2D2A CCN2 CCND1 CCNQ CCR1 CCR6 CD109 CD151 CD2AP CD320 CD46 CD59 CD81 CDC42BPB CDC73 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEL CEP120 CEP164 CEP19 CEP290 CEP83 CFAP418 CFB CFH CFHR1 CFHR3 CFHR5 CFI CFTR CHD4 CHD7 CHRM3 CHRNA3 CHST14 CHUK CIITA CISD2 CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLEC7A CLIP2 CLPB CLTRN CNNM2 COA8 COG1 COG6 COL2A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COPA COQ2 COQ6 COQ8B CORIN COX14 COX16 CPOX CPS1 CPT1A CPT2 CR2 CRB2 CREBBP CRKL CRPPA CSPP1 CTH CTLA4 CTNNB1 CTNS CUBN CYB561 CYBC1 CYC1 CYP11A1 CYP11B1 CYP11B2 CYP21A2 CYP24A1 CYP27B1 CYP2R1 CYP4F22 D2HGDH DAAM2 DACT1 DBH DBT DCDC2 DCLRE1C DCXR DDB2 DDOST DGKE DGUOK DHDDS DHTKD1 DHX37 DIS3L2 DLD DLST DMD DMGDH DMP1 DMRT3 DNAJB11 DNAJC19 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPH1 DPYD DPYS DSTYK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EFEMP2 EHHADH EHMT1 EIF2AK3 EIF4H ELN ELP1 EMP2 EN1 ENG ENPP1 EP300 EPAS1 EPG5 ERAP1 ERBB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ETFA ETFB ETFDH ETHE1 ETS1 EXT1 EXT2 EYA1 F10 F2 F5 F8 FAH FAM20A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSB FAS FASLG FBLN5 FBP1 FBXL4 FCGR2A FCGR2B FCGR3B FDX2 FGA FGF23 FGFR2 FH FIG4 FIP1L1 FKBP6 FKRP FLAD1 FLT1 FLVCR1 FMO3 FN1 FOCAD FOXC2 FOXI1 FOXP2 FOXP3 FOXRED1 FTCD FUCA1 FUZ FXYD2 G6PC1 G6PC3 G6PD GAA GABRA3 GALE GALK1 GALNS GALNT3 GALT GANAB GAPVD1 GATA1 GATA3 GATA4 GATA6 GATM GBA1 GCDH GCK GCLC GCM2 GDF2 GEMIN4 GGT1 GK GLA GLB1 GLDC GLIS2 GLUD1 GLYCTK GNA11 GNAS GNAS-AS1 GNE GNPTAB GNPTG GNS GON7 GP1BA GP1BB GP9 GPC3 GPHN GPR35 GRHPR GSN GSS GTF2I GTF2IRD1 GTF2IRD2 GUCY2D GUSB GYS2 H19 HACE1 HADH HADHA HADHB HAL HBB HCFC1 HDAC8 HELLPAR HGD HGSNAT HIBCH HIC1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS HMBS HMGA2 HMGCL HMOX1 HNF1A HNF1B HNF4A HNRNPK HOGA1 HOXA13 HPD HPRT1 HPS1 HPSE2 HRAS HSD11B2 HSD17B10 HSD3B2 HSPA9 HSPD1 HTRA2 IBA57 IDH1 IDH2 IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGHG1 IGHG2 IGKC IKZF1 IL10 IL12A IL12A-AS1 IL17F IL17RA IL17RC IL1B IL1RN IL23R IL2RB IL2RG IL36RN IL6 IL7R INF2 INPP5E INPPL1 INS INSR INVS IQCB1 IRAK1 IRF1 IRF2BP2 IRF5 ISCU ISL1 ITGA2 ITGA2B ITGA3 ITGA6 ITGA8 ITGAM ITGB3 ITGB4 ITPR3 IVD JAG1 JAK1 JAZF1 KANK2 KANSL1 KARS1 KAT5 KAT6A KCNE5 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ18 KCNJ2 KCNJ5 KCTD1 KHK KIAA0319L KIAA0586 KIAA0753 KIF1B KIF23 KIRREL1 KL KLF11 KLF6 KLRC4 KNSTRN KRAS KRT18 KYNU L2HGDH LAGE3 LAMA3 LAMA5 LAMB2 LAMB3 LAMC2 LARS2 LCAT LDHA LDHD LETM1 LHX1 LIG4 LIMK1 LIN28B LIPN LIPT1 LMAN1 LMBRD1 LMNA LMNB1 LMNB2 LMO1 LMX1B LPIN1 LPIN2 LRIG2 LRP2 LRPPRC LTBP1 LYRM4 LYZ LZTFL1 MAD2L2 MAF MAFB MAGED2 MAGI2 MAN2B1 MANBA MAP3K1 MAPK1 MAPKBP1 MARS1 MAX MC2R MCCC1 MCCC2 MCEE MCFD2 MDH2 MDM2 MECP2 MED12 MEFV MEN1 METTL27 MIA3 MICOS13 MINPP1 MKKS MKS1 MLIP MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MME MMP1 MMUT MNX1 MOCOS MOCS1 MOCS2 MPC1 MPI MRAP MRPS2 MSN MST1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTHFR MTR MTRR MTX2 MUC1 MUTYH MVK MYCN MYD88 MYH11 MYH9 MYL9 MYO1E MYO5B MYOCD NABP1 NADK2 NAE1 NAGA NAGLU NBN NCF1 NDUFA1 NDUFA11 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEU1 NEUROD1 NEXMIF NF1 NFS1 NFU1 NGLY1 NHERF1 NIPAL4 NIPBL NLRP3 NNT NOD2 NOS1AP NOS3 NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NPR2 NR0B1 NR5A1 NRAS NSD1 NSMCE2 NT5C3A NTRK1 NUBPL NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OAT OBSCN OCLN OCRL OFD1 OGDH OPA3 OPLAH OSGEP OTC OXCT1 OXGR1 P4HA2 PAFAH1B1 PAH PALB2 PAX2 PAX4 PAX6 PBX1 PC PCBD1 PCCA PCCB PCK1 PDCD1 PDP1 PDSS2 PDX1 PEPD PET100 PET117 PEX1 PEX14 PEX19 PEX5 PEX7 PFKM PGAM2 PGK1 PGM2L1 PGM3 PHEX PHKA1 PHKA2 PHKB PHKG2 PHOX2B PHYH PHYKPL PIEZO1 PIGA PIGB PIGT PIK3C2A PIK3CA PIK3CD PIK3CG PKD1 PKD2 PKDCC PKHD1 PLCE1 PLG PLOD1 PLOD2 PLVAP PML PMM2 PNP PNPLA6 POLG POLR3A POLR3GL POLRMT POU6F2 PPM1B PPOX PRDX1 PREPL PRF1 PRKAR1A PRKCD PRMT7 PRODH PRPS1 PRTN3 PSTPIP1 PTH1R PTPN22 PTPRO PUS3 PXK PYGL PYGM RAD21 RAD51 RAD51C RAG1 RAG2 RARA RASA1 RASGRP1 RELB REN REST RET RFC2 RFWD3 RFX5 RFXANK RFXAP RMND1 RMRP RNU7-1 ROBO1 RPGRIP1L RPIA RRAGD RRM2B RYR1 SAA1 SALL1 SAMD9 SARDH SARS2 SAT1 SATB1 SCAPER SCARB2 SCLT1 SCNN1A SCNN1B SCNN1G SCO1 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC61A1 SEMA4D SERAC1 SERPINA1 SERPINA6 SERPINF2 SETD2 SFXN4 SGCB SGPL1 SGSH SH2B1 SHANK3 SHPK SIX1 SIX5 SKIC3 SLC12A1 SLC12A3 SLC13A3 SLC16A1 SLC16A12 SLC17A5 SLC18A2 SLC19A2 SLC1A1 SLC22A12 SLC22A5 SLC25A1 SLC25A11 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A4 SLC26A1 SLC26A4 SLC28A1 SLC2A2 SLC2A9 SLC30A9 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC35A2 SLC35C1 SLC36A2 SLC37A4 SLC3A1 SLC41A1 SLC46A1 SLC4A1 SLC4A2 SLC4A4 SLC52A1 SLC52A2 SLC5A1 SLC5A2 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC7A7 SLC7A9 SLCO1B1 SLCO1B3 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCAL1 SMC1A SMC3 SNAP29 SNX14 SOCS1 SON SOX17 SOX18 SOX9 SPINK5 SPP1 SPRY2 SPTBN1 SRCAP SREBF1 SRY STAR STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STK11 STOX1 STS STX11 STX16 STX1A STX3 STXBP2 SUCLA2 SUCLG1 SUGCT SULT2B1 SUMF1 SUOX SURF1 TAFAZZIN TANGO2 TAOK1 TAT TBC1D24 TBC1D8B TBL1XR1 TBL2 TBX1 TBX18 TCF4 TCN2 TDO2 TERT TFAM TGFB1 TGM1 THBD THOC6 TIMM50 TIMMDC1 TK2 TKT TLR4 TLR7 TMEM126B TMEM127 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF4 TNIP1 TNXB TOM1 TOP2A TP53 TP53RK TP63 TPK1 TPRKB TRAF3IP1 TRAF3IP2 TRAIP TREX1 TRIM28 TRIM32 TRIM8 TRIP13 TRMT5 TRMU TRNT1 TRPC6 TRPS1 TRPV4 TRPV6 TSC1 TSC2 TTC21B TTC26 TTC8 TTR TXNRD2 UBAC2 UBE2L3 UBE2T UMOD UMPS UNC13D UNC45A UQCC2 UQCRB UROC1 UROD UROS VAC14 VAMP7 VANGL1 VHL VIPAS39 VPS33A VPS33B VPS37D VPS50 WAS WASF1 WDPCP WDR19 WDR35 WDR4 WDR73 WFS1 WIPF1 WT1 WWOX XDH XPA XPC XPNPEP3 XRCC2 XYLT1 XYLT2 YAP1 YRDC YWHAE YY1AP1 ZAP70 ZBTB16 ZFPM2 ZMPSTE24 ZNF423 ZNF592 ZNF699 ZNFX1 ZNRF3 HP_ABNORMALITY_OF_THE_UTERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UTERUS ADH5 AKT1 ALG9 APC AR ARID1B ARVCF AURKA AXIN1 AXIN2 B3GLCT BAX BMP15 BMPR1A BMPR1B BNC1 BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B C14orf39 CCND1 CCNQ CDC73 CDH1 CDKN1B CHD7 CHEK2 CHRM3 CLPP COL1A1 COL3A1 COL4A5 COL4A6 COL5A1 COL5A2 COMT COQ6 COX7B CPLX1 CTBP1 CTNNB1 CXCR4 CYB5A CYP11A1 CYP11B1 CYP17A1 DACT1 DCAF17 DCC DHCR7 DHH DHX37 DLC1 DUSP6 DYNC2H1 DYNC2I1 DYNC2I2 ELN EP300 EPCAM ERAL1 ERCC4 ESCO2 ESR1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIGLA FLCN FLI1 FOXF1 FOXL2 FRAS1 FREM2 FSHR FZD2 GATA2 GATA3 GLI3 GNB2 GNRH1 GNRHR GP1BB GREB1L GREM1 GRIP1 HCCS HDAC8 HIRA HNF1B HOXA13 HS6ST1 HYLS1 IFT80 INTU IPO8 IRF6 ITGA8 JMJD1C KIF14 KISS1 KISS1R KLLN LARS2 LETM1 LRP2 LZTR1 MAD1L1 MAD2L2 MCC MID1 MINPP1 MKS1 MLH1 MLH3 MNX1 MRPS22 MSH2 MSH3 MSH4 MSH5 MSH6 MYRF NAB2 NDP NDUFB11 NF2 NHLH2 NIN NIPBL NR5A1 NRAS NSD2 NSMF NTHL1 NUP107 PALB2 PAX6 PDGFRL PHGDH PIGN PIK3CA PLA2G2A PLG PMS2 POLD1 POLE POLR3H POR PPP1R12A PPP2R1A PPP2R3C PROK2 PROKR2 PSMC3IP PTEN PTPN12 PTPRJ RAD21 RAD51 RAD51C RAD54B RARB RBM8A RFWD3 RIPK4 RPS20 RPS6KA3 RREB1 SALL1 SDHB SDHC SDHD SEC23B SEC24C SEMA4A SETBP1 SF3B4 SLC6A17 SLX4 SMAD3 SMARCB1 SMC1A SMC3 SOHLH1 SOX11 SOX9 SPECC1L SPIDR SPRY4 SRC SRY STAT6 STK11 STRA6 TAC3 TACR3 TBX1 TBX3 TGFBR1 TGFBR2 THOC6 TLR2 TNXB TOE1 TP53 TP63 TXNDC15 UBE2T UFD1 USF3 WDR11 WDR35 WNT4 WNT7A WNT7B WT1 XRCC2 ZSWIM7 HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE AARS1 ABCA4 ABCC6 ACVRL1 AEBP1 AGBL5 AHI1 AHR AIPL1 AIRE ANO10 ANTXR1 AP1B1 AP1G1 APOC2 ARHGEF18 ARL2BP ARL3 ARL6 ARV1 ARVCF ASAH1 ATF6 ATM BAZ1B BBS1 BBS2 BBS9 BCL7B BEST1 BLNK BTD BTK BTNL2 BUD23 C4A CA4 CAPN5 CARS1 CC2D2A CCDC28B CCM2 CCND1 CCR1 CD19 CD79A CD79B CDHR1 CENPF CERKL CFAP410 CFAP418 CHM CLCC1 CLCNKB CLIP2 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL17A1 COL18A1 COL4A1 COL7A1 COMT CR2 CRB1 CRX CTC1 CTNNB1 CTSA CYP1B1 CYP27A1 DARS1 DDB2 DGCR2 DGCR6 DGCR8 DHDDS DHX38 DKC1 DLK1 DLST DNAJC30 DNASE1L3 DNMT3A DNMT3B DUX4 DUX4L1 EFEMP1 EIF4H ELN ENG ENPP1 EPAS1 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESS2 ETHE1 EYS F12 FAM161A FAS FBN1 FERMT1 FGF10 FGF12 FGFR2 FGFR3 FH FKBP6 FLVCR1 FOXC1 FOXC2 FRG1 FSCN2 FUCA1 FZD4 G6PC1 GALC GATA1 GDF2 GGCX GJB2 GJB6 GLA GLB1 GM2A GNAQ GNAS GNAT2 GP1BB GPIHBP1 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D HARS1 HEXA HEXB HGSNAT HIRA HK1 HLA-A HLA-B HLA-DRB1 HLCS HSD11B2 IARS2 ICOS IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT43 IFT88 IGFBP7 IGHM IGLL1 IGSF3 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 IVNS1ABP JMJD1C KAT6A KIAA1549 KIF1B KIZ KLHL7 KLRC4 KRIT1 LAMB2 LBR LCA5 LCK LIG1 LIMK1 LOXL1 LPL LRAT LRBA LRP5 LRRC32 LRRC8A MAB21L1 MAK MANBA MAPT MASP1 MAX MBTPS2 MDH2 MEFV MEG3 MERTK METTL27 MKS1 MLXIPL MMP1 MPLKIP MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTTP MVK MYD88 MYOC NAGA NBN NCF1 NDP NDUFS2 NEK1 NEK2 NEU1 NF1 NLRP1 NLRP3 NMNAT1 NOD2 NR2E3 NRL NUS1 OFD1 PAX1 PAX6 PCARE PCNA PDCD10 PDE6A PDE6B PDE6C PDE6G PDE6H PEX6 PIK3CA PIK3R1 PLG POLH POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP PSMB4 PSMB8 PSMB9 RAG1 RAG2 RAX2 RBP3 RDH11 RDH12 RDH5 RECQL REEP6 RET RFC2 RGR RHO RLBP1 RNF113A RNF125 RNF168 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RREB1 RTL1 RTTN SAG SAMD9 SASH1 SCAPER SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SELENOI SEMA4A SERPINC1 SETD2 SETX SHMT2 SLC24A1 SLC25A11 SLC37A4 SLC39A4 SLC39A7 SLC6A6 SLC7A14 SMAD4 SMCHD1 SMPD1 SNRNP200 SPATA7 SPI1 SREBF1 SSBP1 STAT4 STN1 STX11 STX16 STX1A TARS1 TBL2 TBX1 TCF3 TFRC TGFBI TKT TLCD3B TLR4 TMEM127 TMEM231 TMEM270 TNFRSF13B TNFRSF13C TNFRSF1A TOPORS TP63 TREX1 TSPAN12 TTC8 TUB TULP1 UBAC2 UFD1 UNC119 UROD UROS USB1 USH2A USP45 VHL VPS33A VPS37D WAS WDR19 WIPF1 WT1 XPA XPC YME1L1 ZNF408 ZNF513 HP_ABNORMALITY_OF_THE_VERTEBRAL_COLUMN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VERTEBRAL_COLUMN AARS1 ABCB7 ABCC6 ABCC9 ABCD1 ABHD16A ABL1 ACADS ACAN ACP5 ACTA1 ACTA2 ACTB ACTG1 ACTN2 ACVR1 ADA ADA2 ADAMTS10 ADAMTS2 ADAMTSL2 ADAR ADAT3 ADCY5 ADGRG6 ADNP AEBP1 AFF3 AFF4 AGA AGRN AHDC1 AHI1 AHSG AIFM1 AIMP1 AIMP2 AIP AK9 AKT1 ALDH18A1 ALDH1A2 ALDH3A2 ALDOA ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG6 ALG8 ALG9 ALMS1 ALPL ALS2 ALX3 AMER1 AMMECR1 ANK1 ANKH ANKRD11 ANKRD17 ANKRD55 ANO5 ANTXR1 ANTXR2 ANXA11 AP1G1 AP1S2 AP5Z1 APC APC2 APTX ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARL6IP6 ARMC9 ARPC4 ARSB ARSK ARSL ARVCF ARX ASAH1 ASH1L ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATG7 ATL1 ATN1 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT7 B9D1 B9D2 BAG3 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL7B BCOR BCR BDNF BGN BICD2 BICRA BIN1 BMP1 BMP15 BMP2 BMPER BMPR1B BNC1 BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BUB1B BUD23 C1R C1S C2CD3 CACNA1G CACNA1S CADM3 CAMK2G CAMSAP1 CAMTA1 CANT1 CAPN1 CAPN15 CAPN3 CARS1 CASK CASZ1 CAVIN1 CBL CBS CBY1 CC2D2A CCBE1 CCDC134 CCDC22 CCDC32 CCDC47 CCDC8 CCL2 CCM2 CCN6 CCND1 CD247 CD46 CD96 CDC42 CDC42BPB CDC45 CDH11 CDH23 CDK10 CDK13 CDK19 CDK5 CDKL5 CDKN2A CDON CENPE CENPJ CENPT CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CFAP410 CFAP418 CFH CFI CFL2 CHAT CHD3 CHD4 CHD7 CHKA CHMP1A CHN1 CHRM3 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CIC CLCF1 CLCN3 CLCN4 CLCN7 CLDN11 CLIC2 CLIP2 CLP1 CNOT2 CNP COG1 COG4 COG5 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP COMT COPB1 COQ2 COQ4 COQ6 COX7B COX8A CPLANE1 CPLX1 CPOX CREB3L1 CREBBP CRKL CRLF1 CRPPA CRTAP CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNND2 CTSA CTSK CUL4B CUL7 CYP27A1 CYP7B1 DACT1 DAG1 DCC DCHS1 DCX DDHD1 DDR2 DDRGK1 DDX3X DDX59 DDX6 DEAF1 DEGS1 DES DHCR7 DHODH DHPS DHX30 DHX37 DICER1 DISP1 DKC1 DKK1 DLG4 DLK1 DLL1 DLL3 DLX5 DMD DMP1 DMPK DNA2 DNAJB4 DNAJC21 DNAJC30 DNAJC6 DNAL4 DNM1L DNM2 DNMT3A DNMT3B DOK7 DONSON DPAGT1 DPF2 DPM2 DPP6 DPP9 DPYD DPYSL5 DSE DSTYK DUX4 DUX4L1 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DYSF EBP ECEL1 EED EFL1 EFNB1 EGR2 EIF2AK3 EIF4H EIF5A ELN ELP1 EMC1 EMD ENPP1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 EXOC6B EXOSC5 EXOSC9 EXT1 EXT2 EXTL3 EZH2 FA2H FAM111B FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXO28 FGD1 FGD4 FGF10 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP14 FKBP6 FKRP FKTN FLAD1 FLCN FLI1 FLII FLNA FLNB FLNC FLRT1 FLVCR1 FMR1 FN1 FOXA2 FOXC2 FOXE3 FOXF1 FOXG1 FOXH1 FOXP2 FOXRED1 FRAS1 FREM2 FRG1 FSHR FTO FUCA1 FUS FUT8 FUZ FXN FZD2 GABBR2 GABRA3 GABRD GAD1 GALNS GAN GARS1 GAS1 GATA1 GATA4 GBA1 GBA2 GCH1 GDAP1 GDF11 GDF3 GDF5 GDF6 GET4 GFAP GFM2 GFPT1 GFRA1 GGPS1 GH1 GJA1 GJA5 GJA8 GJB1 GJC2 GLB1 GLE1 GLI2 GLI3 GLIS3 GLS GMPPB GNA11 GNAQ GNAS GNB2 GNE GNPAT GNPTAB GNPTG GNS GON7 GORAB GOSR2 GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPX4 GRB10 GREB1L GRIA3 GRIN1 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H19 H3-3B H4C5 H4C9 HAAO HACD1 HACE1 HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HELLPAR HERC1 HERC2 HES7 HESX1 HEY2 HGD HGSNAT HHAT HIBCH HIC1 HINT1 HIRA HK1 HLA-B HMBS HMGA2 HMGB3 HNF1B HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA13 HOXD13 HPDL HPGD HRAS HS2ST1 HSD17B4 HSPA9 HSPB8 HSPD1 HSPG2 HTRA1 HTT HUWE1 HYAL1 HYCC1 HYLS1 IARS2 IDH1 IDH2 IDS IDUA IFIH1 IFITM5 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGBP1 IGF2 IGHMBP2 IHH IKBKG IL1RN IL2RA IL2RB IL6ST IMPDH2 INPP5E INPP5K INPPL1 INTS1 INTU IPO8 IQSEC2 IRF6 ITCH ITGA7 ITGA8 ITGB6 JAG1 JAG2 JARID2 JMJD1C JPH1 KANSL1 KAT6B KATNIP KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNN3 KCNQ1OT1 KCNQ2 KCNT1 KDELR2 KDM1A KDM6A KIAA0586 KIAA0753 KIF15 KIF1A KIF21A KIF22 KIF26A KIF5A KIF7 KIFBP KLC2 KLHL41 KLHL7 KLLN KMT2A KMT2C KMT2D KMT2E KNSTRN KRAS KRIT1 KY KYNU L1CAM LAGE3 LAMA2 LAMA5 LAMB2 LARGE1 LARP7 LBR LEMD3 LETM1 LFNG LGI3 LHX3 LHX4 LIFR LIG4 LIMK1 LIPE LMNA LMNB1 LMNB2 LMOD3 LMX1B LONP1 LOX LRP4 LRP5 LRRK1 LSM11 LSS LTBP1 LTBP3 LTBP4 LUZP1 LYSET LZTFL1 LZTR1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKBP1 MAPRE2 MAPT MARS1 MARS2 MASP1 MAT2A MATN3 MBD5 MBTPS1 MBTPS2 MCM3AP MECP2 MED12 MED12L MED13L MED25 MEG3 MEGF10 MEGF8 MEIS2 MEOX1 MESD MESP2 METTL27 MFAP5 MFN2 MGAT2 MGME1 MIA3 MICU1 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP13 MMP14 MMP2 MMP23B MNX1 MOGS MORC2 MPL MPLKIP MPZ MRAS MRPL12 MRPS22 MRPS28 MRPS34 MSH4 MSL3 MSTO1 MT-ATP8 MT-TL1 MTMR14 MTMR2 MTRFR MTRR MTTP MUSK MVK MYBPC1 MYF5 MYH11 MYH2 MYH3 MYH7 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO1H MYO9A MYOD1 MYPN NAA10 NAA20 NAB2 NACC1 NADSYN1 NAGLU NALCN NANS NARS1 NBAS NBN NCAPG2 NCF1 NDN NDP NDRG1 NDUFA12 NDUFAF1 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB11 NDUFS3 NEB NECTIN1 NEDD4L NEFL NEK1 NEK9 NELFA NEMF NEPRO NEU1 NF1 NF2 NFATC2 NFIX NGF NGLY1 NHP2 NIN NIPBL NKAP NKX3-2 NKX6-2 NLRP1 NMNAT1 NODAL NOG NONO NOP10 NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NPHP1 NPM1 NPR2 NR3C1 NR4A2 NR5A1 NRAS NRCAM NRXN1 NSD1 NSD2 NSDHL NSUN2 NT5E NTN1 NTNG1 NTRK1 NUP107 NUP133 NUP188 NUP85 NUP88 NUS1 NXN OBSL1 OCA2 OCRL ODC1 OFD1 OGDHL ORAI1 ORC1 OSGEP OTUD5 OTUD6B OTX2 OXR1 P3H1 P4HB P4HTM PABPN1 PACS1 PAFAH1B1 PAICS PALB2 PALLD PAM16 PAPSS2 PARN PAX2 PAX3 PAX6 PAX7 PCGF2 PCNT PCYT1A PDCD10 PDE11A PDE4D PDE6D PDGFB PDGFRB PDPN PDZD8 PET100 PEX5 PEX7 PGAP1 PGAP2 PGAP3 PGM3 PHACTR1 PHEX PHF6 PHF8 PHGDH PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PISD PKDCC PLAA PLCB1 PLCB3 PLCH1 PLEC PLEKHG5 PLEKHM1 PLK4 PLOD1 PLOD2 PLOD3 PLP1 PLXNA1 PMM2 PMP22 PNKP PNPT1 POC1A PODXL POGZ POLA1 POLD1 POLE POLG POLR1B POLR1C POLR1D POLR3A POLR3GL POLR3H POMGNT1 POMK POMT1 POMT2 POP1 POR PORCN POU1F1 POU4F1 PPIB PPM1D PPOX PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PQBP1 PRDM13 PRDM16 PRDM5 PRG4 PRKAR1A PRKCSH PRKCZ PRKD1 PRKG1 PRKG2 PRMT7 PROP1 PRORP PRPS1 PRR12 PRUNE1 PRX PSAT1 PSMC3IP PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PUF60 PUS1 PWAR1 PWRN1 PYCR1 PYCR2 PYROXD1 QRICH1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAB5IF RABL3 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA1 RASA2 RB1 RBBP8 RBCK1 RBM10 RBM28 RBM8A RDH11 RECQL4 RERE RET RETREG1 RFC2 RFT1 RFWD3 RFX7 RIGI RIN2 RINT1 RIPK4 RIPPLY2 RIT1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNU12 RNU4ATAC RNU7-1 ROBO3 ROR2 RPGRIP1L RPL10 RPL11 RPL13 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPO2 RSPRY1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SACS SALL1 SALL4 SAMD9 SAMHD1 SATB1 SATB2 SBDS SBF1 SBF2 SC5D SCAPER SCARB2 SCARF2 SCLT1 SCN1A SCN2A SCN4A SCN9A SCUBE3 SCYL2 SDCCAG8 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SEC63 SELENON SEMA3E SEMA5A SERPINF1 SERPINH1 SETBP1 SETD2 SETD5 SETX SF3B2 SF3B4 SFRP4 SGCA SGCG SGMS2 SGSH SH2B1 SH3PXD2B SH3TC2 SHANK3 SHH SHMT2 SHOC2 SHOX SHROOM4 SIGMAR1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC10A7 SLC12A5 SLC12A6 SLC16A2 SLC18A3 SLC1A2 SLC22A12 SLC25A1 SLC25A21 SLC25A22 SLC25A24 SLC25A42 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC2A9 SLC30A9 SLC35A2 SLC35A3 SLC35B2 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SLC6A1 SLCO2A1 SLF2 SLITRK2 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMG9 SMO SMOC1 SMPD4 SMS SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SOCS1 SON SORD SOS1 SOS2 SOST SOX11 SOX2 SOX3 SOX4 SOX5 SOX9 SP7 SPARC SPART SPAST SPATA5 SPATA5L1 SPEG SPEN SPG11 SPG7 SPIDR SPOP SPRED1 SPRED2 SPRTN SPTBN1 SPTBN4 SPTLC1 SRCAP SRD5A3 SRP54 SRY SSR4 STAC3 STAG1 STAG2 STAT3 STAT4 STAT6 STIL STX16 STX1A STXBP1 SUFU SUGCT SUMF1 SUPT16H SURF1 SUZ12 SVIL SYNE1 SYNE2 SYNJ1 SYT1 SYT2 TAF1 TALDO1 TANC2 TAPT1 TARS1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX18 TBX2 TBX4 TBX5 TBX6 TBXAS1 TBXT TCF12 TCF20 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TELO2 TENT5A TERC TERT TFAP2A TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THPO THSD4 TIMM50 TINF2 TK2 TLK2 TMCO1 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM38B TMEM43 TMEM53 TMEM63C TMEM67 TMEM94 TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNNI2 TNNT1 TNNT3 TNPO3 TOGARAM1 TONSL TOR1A TOR1AIP1 TP53 TP53RK TP63 TPI1 TPM2 TPM3 TPRKB TRAF7 TRAIP TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC4 TRAPPC9 TREX1 TRIM32 TRIO TRIP11 TRIP4 TRMT10A TRPM3 TRPS1 TRPV4 TRRAP TSR2 TTC19 TTC21B TTC5 TTC8 TTI2 TTN TTPA TTR TUBA1A TUBB TUBB3 TUBB4A TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNDC15 TYMS UBA1 UBE2A UBE2T UBE3A UBE3B UBE4B UBTF UFC1 UFD1 UFSP2 UNC80 UPB1 UPF3B UROS USB1 USF3 USP48 USP7 USP8 USP9X VAC14 VAMP1 VANGL1 VANGL2 VCP VDR VHL VMA21 VPS13B VPS33A VPS35L VPS37A VPS37D VPS53 WAC WASHC5 WBP11 WDPCP WDR11 WDR35 WDR4 WDR45B WDR73 WDR81 WIPI2 WLS WNK1 WNT1 WNT3 WNT3A WNT4 WNT5A WNT7A WNT9B WRAP53 WRN WT1 XRCC2 XYLT1 XYLT2 YARS2 YIF1B YRDC YWHAE YWHAG ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF341 ZNF407 ZNF423 ZNF469 ZNF699 ZSWIM7 HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES ACP5 B3GALT6 CCN6 CHST3 CLCN7 COG4 COL10A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP DMP1 DYM EIF2AK3 ENPP1 EXOC6B FN1 GNPAT GORAB IDH1 KIF22 LRRK1 MMP13 NANS PAPSS2 PDE4D POLR3A RNU4ATAC SLC10A7 SLC29A3 SLC39A13 SOST TCIRG1 TNFRSF11A TONSL TRAPPC2 ZBTB20 HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE COCH COQ6 DKK1 HRAS KARS1 LZTR1 NF2 PRNP SMARCB1 SPRED1 HP_ABNORMALITY_OF_THE_VOICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VOICE AARS1 ABAT ACAN ACTA1 ACTB ADAR ADCY6 ADGRG1 ADH1C AFF2 AGA AGRN AIP ALDH18A1 ALDH4A1 ALPL ALS2 AMER1 ANOS1 AOPEP AR ARHGAP29 ARHGEF38 ARID1B ARVCF ASAH1 ASPA ATG7 ATP1A3 ATP5F1A ATP5MC3 ATP6AP2 ATP6V0A2 ATRX ATXN2 ATXN3 ATXN8OS B3GALNT2 B4GALNT1 BAG3 BAZ1B BCL7B BIN1 BMP4 BRAF BUD23 C1R CADM3 CAMK2B CAMKMT CAMTA1 CAPN15 CARS1 CCDC141 CDC73 CDH1 CEP104 CHAT CHD7 CHRNA1 CHRND CHRNE CIZ1 CLIP2 CNOT2 COBLL1 COL13A1 COL6A3 COLQ COMT COQ2 COQ6 COQ9 CRLF1 CRPPA CRTAP CRYAB CTNND2 CYP27A1 DCC DCTN1 DDRGK1 DEAF1 DGCR2 DGCR6 DGCR8 DGUOK DKK1 DLEC1 DLG1 DLK1 DLST DLX4 DNAJB2 DNAJC30 DNAJC6 DNMT3A DST DUOX2 DUSP6 DYNC1I2 ECM1 EDA EED EIF2AK2 EIF4A3 EIF4H ELN EMD EPAS1 ERCC2 ERCC3 ESS2 EXOSC9 EZH2 FBN1 FEZF1 FGF17 FGF8 FGFR1 FH FHL1 FIG4 FKBP6 FKRP FKTN FLII FLNA FLRT3 FOXP1 FOXP2 FRRS1L FTL FTO GABRG2 GALT GARS1 GBA1 GDAP1 GFAP GFPT1 GGPS1 GIPC1 GLUD2 GMPPA GMPPB GNAI3 GNAL GNAS GNE GNPTAB GNRH1 GNRHR GP1BB GPC3 GPC4 GPR101 GRHL3 GRIN2A GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HAAO HACD1 HERC2 HESX1 HIRA HK1 HMBS HRAS HS6ST1 HSPG2 HTRA1 HTT IDS IFIH1 IGHMBP2 IL17RD IL1RAPL1 INPP5K IQSEC2 IRF6 ITGA7 JAG1 JMJD1C KANSL1 KCNK9 KCTD17 KDM6A KIF1B KISS1 KISS1R KMT2B KMT2D KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LARGE1 LEMD3 LIFR LIMK1 LMNA LMNB1 LONP1 LRP12 LSM11 LTBP3 LTBP4 LYRM4 LZTR1 MAGEL2 MAP3K20 MAPK1 MAPT MATR3 MAX MDH2 MECP2 MED12 MEG3 MEGF10 METTL27 MFN2 MGME1 MGP MID1 MKRN3 MLXIPL MPLKIP MSX1 MT-TT MUSK MYCN MYH14 MYH3 MYL2 MYMX MYO9A MYOT MYPN NALCN NCF1 NDN NDNF NDUFS8 NECTIN1 NEFH NEU1 NF1 NF2 NFE2L2 NHLH2 NIPBL NLRP1 NLRP3 NONO NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NR4A2 NSD1 NSMF NUS1 OCA2 OCRL OPA1 P4HB PABPN1 PANK2 PAX8 PCNT PDGFRA PEX19 PHF8 PI4KA PIGN PLCB4 PLEC PLIN4 PLXND1 PMP22 PNPO PODXL POLA1 POLG POMGNT1 POMT1 POMT2 POU1F1 PPM1B PPP1R21 PPP3CA PQBP1 PREPL PRKRA PROK2 PROKR2 PRPH PRX PTPN11 PWAR1 PWRN1 PYROXD1 RAF1 RAI1 RAPSN RARS1 RET REV3L RFC2 RIC1 RILPL1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF6 RNU7-1 RREB1 RRM2B RTL1 RYR1 SAMHD1 SBF2 SCN4A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC24D SEC31A SELENON SEMA3A SEMA5A SERPING1 SET SETBP1 SH2B1 SH3BP2 SH3TC2 SHOC2 SHQ1 SIL1 SIM1 SLC18A2 SLC18A3 SLC19A2 SLC25A1 SLC25A11 SLC26A2 SLC2A3 SLC3A1 SLC52A3 SLC5A7 SMAD4 SMARCB1 SMS SNAP25 SNCAIP SNORD115-1 SNORD116-1 SNRPB SNRPN SOD1 SOX10 SPART SPEG SPG7 SPRY4 SPTBN1 SRCAP SRD5A2 SRPX2 STAG2 STX16 STX1A SUZ12 SYNE1 SYNE2 SYNJ1 SYT2 TAC3 TACR3 TARS1 TBC1D2B TBL2 TBP TBX1 TFAP2A TGFBR2 TGM6 THAP1 THRA TK2 TLK2 TMEM127 TMEM270 TMEM43 TNNC2 TONSL TOR1A TP63 TPK1 TPM2 TPM3 TRAPPC12 TREX1 TRH TRHR TRIM2 TRIM37 TRIP4 TRPV4 TSHB TSHR TSPYL1 TTC19 TTC26 TTN TUBB4A TUBB6 TWNK UBA1 UBB UFD1 UNC45B UPF3B VAMP1 VARS1 VHL VPS11 VPS13A VPS13B VPS37D WDR11 WRN WWOX ZBTB18 ZDHHC9 ZFYVE26 ZNF699 HP_ABNORMALITY_OF_THE_WRIST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_WRIST ABCC6 ADAMTSL2 ADGRG6 AEBP1 AIFM1 AKT1 ALDH18A1 ALG12 ANKRD55 ANO5 APC ASAH1 ASXL1 ATP7A B3GALT6 BGN BHLHA9 BMPR1B BPNT2 BPTF CADM3 CANT1 CAPN3 CBFB CCN6 CD247 CHST3 CHSY1 CLCN5 COG4 COL12A1 COL25A1 COL27A1 COL2A1 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COMP CYP27B1 CYP2R1 DDR2 DHX16 DLK1 DMP1 DYM DYNC2LI1 EBP EIF2AK3 ENPP1 ERCC1 ERGIC1 ERLIN2 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 FBLN1 FBN2 FGFR2 FGFR3 FLNA FLNB GALNS GDAP1 GDF5 GJA1 GLB1 GLI1 GNE GNPTAB GPC3 GPC4 HOXA13 HOXD13 HSPG2 IDH1 IHH IL2RA IL2RB KIDINS220 KIF22 LAMB2 LEMD3 LMBR1 LMNA LONP1 LRP4 LTBP3 MACROH2A1 MAFB MAP3K7 MATN3 MBTPS1 MECP2 MEG3 MMP14 MMP2 MUSK MYH3 MYL11 NALCN NANS NIN NOG NOTCH2 NXN OCRL OPA3 PAX3 PDE4D PI4KA PIEZO2 PIGV PITX1 POR PRG4 PRKACA PRKACB PSMD12 PTEN PTH1R PTPN2 PTPN22 RAC3 RBM8A RECQL4 RMRP ROR2 RSPRY1 RTL1 SALL4 SCYL2 SETD2 SHH SHOX SIK3 SLC10A7 SLC34A2 SLC34A3 SLC35B2 SLC35D1 SMOC1 SPG11 STAT4 TBX15 TBX3 TBX5 TNNI2 TNNT1 TNNT3 TONSL TPM2 TRAPPC2 TRIP11 TRPV4 TUBB3 UFSP2 VDR WNT7A XRCC2 XYLT1 ZMPSTE24 HP_ABNORMALITY_OF_THROMBOCYTES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THROMBOCYTES ABCA1 ABCC6 ABCD4 ABCG8 ABL1 ACAD9 ACAT1 ACD ACP5 ACTN1 ADA ADA2 ADAMTS13 ADAR ADH5 AGK ALG12 ALG8 AMN ANKRD11 ANKRD26 AP3B1 APOE ARHGAP31 ARHGEF1 ARPC1B ARVCF ASAH1 ASXL1 ATP6AP1 ATP6V1B2 ATP7B ATRX BANK1 BCOR BCR BLK BLOC1S3 BLOC1S5 BLOC1S6 BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 C3 C4A C4B CA2 CALR CASP10 CBL CD109 CD19 CD36 CD40LG CD46 CD55 CD81 CDC40 CDC42 CFB CFH CFHR1 CFHR3 CFI CIITA CISD2 CLCN7 CLPB COG1 COG4 COG6 COL4A5 COMT CORIN CR2 CTC1 CTLA4 CTNNBL1 CUBN CYCS DCLRE1C DEF6 DGKE DGUOK DHFR DIAPH1 DKC1 DLL4 DNAJC21 DNASE1 DOCK2 DOCK6 DTNBP1 DZIP1L EFL1 ELANE ELF4 ENPP1 EOGT EPB42 EPHB2 ERBB3 ERCC4 ERCC6L2 ESCO2 ETS1 ETV6 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FASLG FCGR2A FCGR2B FCGR2C FCGR3B FERMT3 FIP1L1 FLI1 FLNA FLT1 FOCAD FOXP3 FYB1 G6PC3 GALC GATA1 GATA2 GBA1 GFI1B GIMAP5 GNA14 GNAS GP1BA GP1BB GP6 GP9 GUCY1A1 HBB HEATR3 HELLPAR HIRA HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HMOX1 HOXA11 HPS3 HPS4 HPS5 HPS6 HSCB ICOS IFIH1 IFNG IFNGR1 IGHG1 IKZF1 IKZF5 IL10 IL6ST IL7R IRAK1 IRF2BP2 IRF5 IRF8 ITGA2 ITGA2B ITGAM ITGB3 ITK IVD JAK2 JAM2 JAZF1 JMJD1C KARS1 KCNJ1 KCNN4 KDM6A KIAA0319L KIF15 KIT KMT2D KRAS LACC1 LARS2 LAT LBR LCK LCP2 LIG4 LIPA LMBRD1 LRBA LSM11 LYST LZTR1 MAD2L2 MADD MAGT1 MAP2K1 MARS1 MECOM MECP2 MED12 MGAT2 MMAA MMAB MMACHC MMUT MOGS MPIG6B MPL MRAS MS4A1 MTHFD1 MTOR MVK MYH9 MYORG MYSM1 NAA10 NABP1 NAF1 NBEAL2 NBN NFKB1 NFKB2 NHEJ1 NHP2 NIPBL NLRC4 NLRP3 NOP10 NOS3 NOTCH1 NPM1 NRAS NSUN2 NUMA1 OCLN OCRL ORAI1 OSTM1 OTUD5 P2RY12 P4HA2 PALB2 PARN PCCA PCCB PDCD1 PDGFB PDGFRB PEPD PHGDH PIGA PIK3CD PIK3CG PKHD1 PLA2G4A PLAU PLEKHM1 PLOD3 PML PMM2 PNP POLRMT POMP PPIL1 PRDX1 PRF1 PRIM1 PRKACG PRKAR1A PRKCD PSAP PSMB4 PSMB8 PSMB9 PSTPIP1 PTPN11 PTPN22 PXK RAD51 RAD51C RAF1 RAG1 RAG2 RARA RASA2 RASGRP1 RASGRP2 RBM8A RBPJ RECQL REL RFWD3 RFX5 RFXANK RFXAP RIT1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RRAS RRAS2 RREB1 RTEL1 RUNX1 RYR1 SALL4 SAMD9 SAMD9L SAMHD1 SARS2 SASH3 SAT1 SBDS SC5D SCARB2 SCN10A SCN11A SCN9A SEC24C SF3B1 SH2B3 SH2D1A SKIC2 SKIC3 SLC19A2 SLC20A2 SLC35A1 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SLF2 SLFN14 SLX4 SMARCAL1 SMARCD2 SMC5 SMPD1 SNX10 SOCS1 SOS1 SOS2 SP110 SPATA5 SPP1 SPRED2 SRC SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STOX1 STT3B STX11 STXBP2 TALDO1 TBC1D24 TBL1XR1 TBX1 TBXA2R TBXAS1 TCIRG1 TCN2 TERC TERT TET2 TFRC TGFB1 THBD THPO TINF2 TLR7 TLR8 TMEM165 TNFAIP3 TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNFSF4 TNIP1 TOM1 TP53 TPP2 TREX1 TRNT1 TSR2 TTC7A TUBA8 TUBB1 TYMS UBA1 UBE2L3 UBE2T UFD1 UNC13D UQCRFS1 UROS USB1 USP18 VPS33A VPS33B VPS45 VWF WARS2 WAS WDR1 WFS1 WIPF1 WRAP53 XIAP XPR1 XRCC2 ZAP70 ZBTB16 ZNFX1 HP_ABNORMALITY_OF_THUMB_PHALANX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THUMB_PHALANX ACAN ACTB ACTG1 ACVR1 ADA2 ADNP ALG9 ALX4 ATP6V1B2 B3GAT3 BCOR BICRA BMP2 BMPR1A BMPR1B BPNT2 BPTF BRCA1 BRCA2 BRD4 BRIP1 CANT1 CBFB CHN1 CHST3 CHSY1 CILK1 CNOT1 COL2A1 CREBBP CWF19L1 DACT1 DHX30 DLK1 DLX5 DNM1L DVL1 DVL3 EED EP300 ERCC4 ESCO2 EXOSC2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FLNA FLNB FZD2 G6PC3 GATA1 GATA4 GDF5 GJA5 GJA8 GLI1 GLI3 GNAS GPC3 GPC4 H3-3A H3-3B HDAC8 HEATR3 HNRNPR HOXA13 HOXD13 HPGD IHH INPPL1 INTU KCNH1 KCNN3 KCTD1 KIF7 KNSTRN LAMA5 LIG4 LMBR1 MAD2L2 MAFB MAN2C1 MAP3K7 MED12 MEG3 MEGF8 MEIS2 MSX2 NAA10 NIPBL NOG NONO NSD1 NSUN2 NUP107 NXN OFD1 OTUD6B PACS1 PAH PALB2 PCDHGC4 PCNT PIGB PIGF PIK3CD POGZ PPP2R3C PQBP1 PRKD1 PRKG2 PSMD12 PTCH1 PTEN PUF60 PYCR2 RAB23 RAD21 RAD51 RAD51C RBM8A RFWD3 RLIM ROBO1 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTL1 SALL1 SALL4 SATB2 SETBP1 SF3B2 SF3B4 SHH SHMT2 SIAH1 SLC26A2 SLX4 SMC1A SMC3 SMO SMOC1 SNIP1 SOX9 SRCAP SUMF1 SUZ12 TBC1D24 TBX5 TP63 TRIO TRPM3 TSR2 TTC26 TWIST1 UBE2T USP9X VAC14 VPS35L WNT5A XRCC2 XYLT1 ZNF668 HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY ABCB11 ABCB4 ABCC6 ABCC8 ACP5 ADA ADAMTSL1 ADAR ADAT3 ADCY5 AFF4 AIP AIRE AKT1 ALB ALG2 ALG8 ALMS1 ALX4 ANAPC1 APC APC2 APOE ARL6IP6 ARNT2 ARVCF ASH1L ATP11A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATP8B1 ATPAF1 ATPAF2 B3GLCT B4GALT1 BAP1 BAZ1B BCL7B BCOR BICRA BMP4 BMP6 BRAF BTNL2 BUB1 BUB1B BUB3 BUD23 C1QBP CACNA1C CACNA1S CASZ1 CCDC47 CD55 CDH23 CDKN1B CDKN1C CDON CEP57 CHD7 CHD8 CLCNKB CLIP2 CLPB COMT CPE CTNNB1 CTNS CYP27A1 DACT1 DCAF17 DCLRE1C DDB1 DDOST DEAF1 DICER1 DIO1 DISP1 DLL1 DMXL2 DNAH1 DNAJC19 DNAJC30 DNM1L DUOX2 DUOXA2 DYRK1A EIF2AK3 EIF4H ELN ENPP1 EXOSC2 EXT2 FANCI FARSA FDX2 FGF13 FGF8 FGFR1 FKBP6 FLCN FLII FMR1 FOCAD FOXA2 FOXE1 FOXG1 FOXH1 FOXI1 FOXP1 FOXP3 FUCA1 FUT8 GABRA3 GABRD GAS1 GATA1 GATA4 GATA6 GCH1 GLI2 GLI3 GLIS3 GNA11 GNAS GNB1 GNE GP1BB GPR161 GRIA1 GRIN2B GRM7 GTF2I GTF2IRD1 GTF2IRD2 GYG1 HBB HDAC4 HESX1 HFE HID1 HIRA HLA-DRB1 HMGA2 HNF1B HNRNPK HPD HSD17B3 HSPG2 HYMAI IFIH1 IFNG IGF2 IGSF1 IL2RA IL2RG IL6ST IL7R IMPDH2 INSR IPO8 IQSEC2 IRF4 IRS4 ITCH IYD JAK1 JMJD1C KANSL1 KARS1 KAT6B KATNIP KCNAB2 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KDM6A KEAP1 KISS1R KLF1 KMT2B KMT2D LEP LEPR LHX3 LHX4 LIFR LIG4 LIMK1 LRBA LRP4 LSM11 LUZP1 MADD MAGEL2 MARS1 MC2R MCM8 MDM4 MEN1 METTL27 MLXIPL MMP23B MOGS MPI MRAP MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTTP NCF1 NDN NEXMIF NF2 NIN NKX2-1 NKX2-5 NNT NODAL NPHS1 NR1H4 NR4A2 NSD1 OCA2 OPA1 OTX2 PAX8 PCSK1 PDE4D PDGFB PDPN PHF21A PIEZO1 PIK3C2A PIK3CA PLAA PLAG1 PLAGL1 PLCH1 PLVAP PMM2 PNPLA6 POLG POLG2 POLR3A POLR3GL POMC POU1F1 POU3F4 PPP1R15B PRDM16 PRIM1 PRKAR1A PRKCZ PROKR2 PROP1 PTCH1 PTEN PTRH2 RAG1 RAG2 RAI1 RBM28 RERE RFC2 RMRP RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROBO1 RPL10 RREB1 RRM2B SAA1 SALL1 SAMHD1 SASH3 SCN4A SEC24C SECISBP2 SETBP1 SETD2 SGPL1 SHH SIM1 SIX3 SKI SKIC2 SKIC3 SLC12A3 SLC16A2 SLC25A36 SLC25A4 SLC26A4 SLC37A4 SLC5A5 SLC6A17 SLF2 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMO SNRPN SOX3 SPEN SPOP SRD5A3 SRY STAG2 STAR STAT1 STAT3 STEAP3 STIL STUB1 STX1A SUFU SUGCT SUPT16H SVBP TANGO2 TBC1D24 TBCK TBL1X TBL2 TBX1 TDGF1 TERT TF TG TGIF1 THRA THRB TIAM1 TMEM270 TMEM67 TOM1 TONSL TPO TRAF7 TRAPPC9 TREX1 TRH TRHR TRIP13 TRMT10A TSC1 TSC2 TSHB TSHR TTR TWNK TXNRD2 UBE4B UBR1 UBR7 UFD1 USP9X VPS37D WDR11 WDR4 WFS1 XRCC4 YRDC YY1 ZBTB20 ZFP57 ZIC2 HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES COL11A1 COL2A1 DLK1 MEG3 RTL1 HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY ACTB ADGRV1 AIFM1 ALG12 ATP7A BHLHA9 BMPR1B CEP120 CHD7 CHEK2 CHST3 CILK1 CLCN5 CLTCL1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A2 COL9A3 CPLANE1 CYP27A1 CYP27B1 CYP2R1 DDX6 DLK1 DMP1 DONSON DYM DYNC2H1 EIF4A3 EN1 ENPP1 EXT1 EXT2 FGFR3 FIBP FLNA FLNB FN1 GABRA1 GABRD GABRG2 GDF5 GLI3 GORAB GPC6 HCN1 HPGD HYLS1 IHH INTU LAMA5 LIFR LMBR1 LMX1B LRP5 MEG3 MMP13 NEK1 NF1 P3H1 PCDH19 PCNT PCYT1A PDGFRB PHEX PITX1 POR PRR12 RB1 RBM8A RMRP RTL1 SATB2 SCN1A SCN1B SCN2A SCN9A SEMA3E SERPINH1 SETBP1 SHH SHOX SLC26A2 SLC29A3 SLC31A1 SLC34A3 SLC35A2 SMOC1 SOX9 STX1B TBXAS1 TCTN3 TGFB1 TP53 TRAPPC2 VDR WNT7A ZSWIM6 HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION MEFV PRF1 STX11 STXBP2 UNC13D HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY ADA AK2 ARVCF CARD11 CARMIL2 CASP10 CASP8 CD19 CD3E CD40LG CIITA COG6 COMT CR2 CTPS1 DGCR2 DGCR6 DGCR8 DOCK2 EPG5 ESS2 FAS FASLG GATA3 GP1BB HIRA HLA-DRB1 ICOS JAK3 JMJD1C LCP2 LEP LEPR LIG1 MAGT1 MRTFA NSMCE3 PGM3 PNP RAB27A RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RNU4ATAC RREB1 SEC24C SLC39A4 SMARCAL1 TBX1 TGFB1 TNFRSF13B TNFRSF13C UFD1 UMPS WAS WIPF1 HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY ARSL ATR BGN BMPR1B BPNT2 COG4 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLX1 CTBP1 DYM EIF2AK3 ERCC6 ERCC8 EVC EVC2 EXT1 FGFR3 FGFRL1 FLNA FLNB GDF5 GNPAT GPX4 IFIH1 IFT140 IFT172 IFT52 IHH KCNH1 KIF15 LETM1 MATN3 MGP MIA3 MRPS28 NEK1 NKX3-2 NPR2 NPR3 NSD2 PCNT POR PRKAR1A RAB23 RAD21 RMRP RPS6KA3 RUNX2 SALL1 SLC26A2 SRCAP TONSL TRAPPC2 TRIP11 TRPS1 TRPV4 HP_ABNORMALITY_OF_UPPER_LIMB_JOINT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT ABCC6 ABCC9 ACTA1 ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ADGRG6 AEBP1 AFF3 AIFM1 AKT1 ALDH18A1 ALG12 ALG3 ALX1 ALX3 AMER1 ANAPC1 ANKRD55 ANO5 ANTXR2 APC APC2 ARID1B ARPC4 ASAH1 ASPH ASXL1 ASXL3 ATP7A ATR AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 BANF1 BAZ1B BCL7B BCOR BCR BGN BHLHA9 BICRA BMP1 BMPR1B BPNT2 BPTF BRAF BRD4 BUD23 CADM3 CANT1 CAPN3 CASZ1 CAV1 CBFB CBL CCBE1 CCDC22 CCDC8 CCN2 CCN6 CCR6 CD247 CD96 CDC45 CDC6 CDH3 CDT1 CHRNG CHST3 CHSY1 CLCF1 CLCN3 CLCN5 CLIP2 CNTN1 COG4 COG5 COL11A1 COL11A2 COL12A1 COL1A1 COL25A1 COL27A1 COL2A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP CPLX1 CPT2 CREBBP CRKL CRLF1 CSGALNACT1 CTBP1 CTCF CTDP1 CUL4B CUL7 CYP26B1 CYP27A1 CYP27B1 CYP2R1 DDR2 DHCR24 DHODH DHX16 DLK1 DLL3 DMD DMP1 DNAJC30 DOK7 DONSON DVL1 DVL3 DYM DYNC2LI1 DYRK1A DYSF EBP ECE1 ECEL1 EED EFNB1 EIF2AK3 EIF4A3 EIF4H ELN EMD EMG1 ENPP1 EP300 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 ERLIN2 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 EZH2 FAT4 FBLN1 FBN1 FBN2 FBXO28 FBXW11 FDFT1 FERMT1 FGD1 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FKBP10 FKBP6 FKTN FLNA FLNB FLVCR1 FZD2 GABRD GALNS GDAP1 GDF5 GHR GJA1 GJB2 GLB1 GLDN GLE1 GLI1 GLI3 GMNN GNB1 GNB2 GNE GNPTAB GNS GON7 GPC3 GPC4 GPC6 GPKOW GRB10 GSC GTF2I GTF2IRD1 GTF2IRD2 H4C9 HACD1 HDAC8 HEATR3 HEPHL1 HES7 HINT1 HK1 HLA-DRB1 HNRNPA1 HNRNPH1 HOXA11 HOXA13 HOXD13 HRAS HS2ST1 HSPB1 HSPG2 IDH1 IDS IDUA IFITM5 IGHMBP2 IHH IKBKG IL2RA IL2RB IL6ST INF2 IPO8 IRF5 ITCH ITGA7 JAG2 JARID2 KAT6B KCNAB2 KCNK9 KDM5B KDM5C KIAA0319L KIDINS220 KIF21A KIF22 KIF5A KMT2A KMT2B KRAS KRT1 KRT14 KRT16 KRT9 KY L1CAM LAGE3 LAMA2 LAMB2 LAMB3 LARGE1 LARS2 LBR LEMD3 LETM1 LFNG LGI4 LIFR LIMK1 LMBR1 LMBRD2 LMNA LMX1B LONP1 LRP4 LTBP3 LUZP1 LZTR1 MACROH2A1 MAF MAFB MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MASP1 MATN3 MBTPS1 MBTPS2 MECOM MECP2 MED12 MED25 MEG3 MEGF10 MESP2 MET METTL27 MKS1 MLXIPL MMP13 MMP14 MMP2 MMP23B MORC2 MRAS MUSK MYBPC1 MYH3 MYL1 MYL11 MYL2 MYOD1 MYOT NAA10 NALCN NANS NCF1 NDRG1 NEDD4L NEFL NF1 NIN NIPBL NLRP3 NOD2 NOG NONO NOTCH2 NPR2 NRAS NSD1 NSD2 NUP107 NUP133 NUP88 NXN OBSL1 OCRL OPA3 ORC1 ORC4 ORC6 OSGEP P4HTM PAX3 PCNT PDE4D PDGFRB PDPN PDXK PEX1 PEX2 PEX5 PEX6 PHGDH PI4KA PIEZO2 PIGA PIGL PIGV PIGY PIK3C2A PITX1 PLEKHG5 PLOD1 PLOD2 PLOD3 PMP22 POLR3A POLR3GL POP1 POR PORCN PPP1CB PPP2R3C PQBP1 PRDM16 PRG4 PRKACA PRKACB PRKAR1A PRKCZ PRMT7 PSMB8 PSMD12 PSTPIP1 PTDSS1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PTRH2 PYCR1 PYROXD1 RAB23 RAB33B RAB3GAP1 RAC3 RAD21 RAF1 RAPSN RASA2 RBM8A RECQL4 RERE RFC2 RIPPLY2 RIT1 RMRP RNU4ATAC ROR2 RPL10 RPL26 RRAS RRAS2 RSPO2 RSPRY1 RTL1 RTTN SALL4 SCARF2 SCN4A SCYL2 SELENON SETBP1 SETD2 SF3B4 SFRP4 SH3PXD2B SHH SHOC2 SHOX SIGMAR1 SIK3 SIL1 SIN3A SKI SLC10A7 SLC18A3 SLC25A46 SLC26A2 SLC29A3 SLC34A2 SLC34A3 SLC35A2 SLC35A3 SLC35B2 SLC35D1 SLC39A13 SLC39A8 SLC6A9 SMAD3 SMAD6 SMARCAD1 SMC1A SMC3 SMG9 SMOC1 SNRPB SOS1 SOS2 SOX9 SPEN SPG11 SPRED2 SPRTN SRCAP SRY STAG1 STAT4 STX1A STXBP1 SUZ12 SVIL SYNE1 SYNE2 SYT2 TBC1D2B TBL2 TBR1 TBX15 TBX2 TBX22 TBX3 TBX5 TCF12 TCTN3 TDO2 TFAP2A TFAP2B TFE3 TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMEM218 TMEM222 TMEM270 TMEM43 TMEM70 TNNI2 TNNT1 TNNT3 TONSL TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPRKB TRAPPC2 TRIP11 TRPS1 TRPV4 TUBA1A TUBB3 TWIST1 TWIST2 UBA1 UBE4B UFSP2 UNC80 UPF3B UROS VDR VPS13B VPS37D WDR11 WDR4 WDR73 WNT4 WNT5A WNT7A XRCC2 XYLT1 YRDC ZDHHC9 ZIC1 ZMPSTE24 ZNF407 HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION AARS1 ABCC9 ACTB ACTG1 ADAMTSL1 ADARB1 ADGRG6 ADNP ADSL AFF3 AFF4 AGL AGO1 AGO2 AGR2 ALDH6A1 ALG12 ALG9 AMMECR1 ANKLE2 ANKRD11 ANKRD17 AP2M1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARHGEF2 ARID1A ARID1B ARID2 ARX ASPM ASXL2 ASXL3 ATIC ATN1 ATP1A2 ATP1A3 ATP6V1B2 ATP9A ATRX B3GLCT B4GALT1 BAP1 BCL11A BCL11B BCR BMP2 BPTF BRAT1 BRCA1 BUB1 CACNA1A CACNA1C CACNA2D1 CAMSAP1 CCNK CCNQ CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDON CENPE CENPJ CEP135 CEP152 CEP63 CHAMP1 CHD2 CHD8 CHMP1A CHST14 CILK1 CIT CLCN3 CLCN6 CLP1 CLTC CNOT2 COG1 COL11A1 COPB2 CPLX1 CREBBP CRKL CSF1R CSNK2A1 CTCF CTNNB1 CUX1 CYFIP2 DCHS1 DCPS DDB1 DDX59 DEAF1 DENND5A DHPS DIS3L2 DISP1 DLK1 DLL1 DMPK DNMT3A DPF2 DPM1 DPM2 DSE DVL1 DYRK1A EBF3 EDA EDA2R EDAR EDARADD EDEM3 EEF1A2 EHMT1 EIF5A EP300 EPG5 EXOC2 EXOSC2 EXT1 FAR1 FAT4 FBN1 FBXO28 FGF8 FGFR1 FIG4 FLII FOXG1 FOXH1 FZD2 GAD1 GALNT2 GAS1 GATAD2B GBA1 GJA5 GJA8 GLI2 GLIS3 GNAI1 GNB2 GNE GOLGA2 GPC4 H3-3A H4C5 H4C9 HDAC8 HERC2 HIVEP2 HK1 HNRNPK HNRNPU HOXB1 HS2ST1 HUWE1 IER3IP1 IFIH1 IFT43 IGF1R IL1RAPL1 IQSEC2 IRF6 IRX5 JARID2 KAT6A KAT6B KATNB1 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNK9 KCNMA1 KDM1A KDM3B KDM4B KDM5C KIF11 KIF14 KIF15 KIF7 KMT2A KMT2D KNL1 LAS1L LMBRD1 MAF MAGEL2 MAN1B1 MAP1B MAPK1 MAPK8IP3 MAPRE2 MBD5 MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED13 MED25 MED27 MEF2C MEG3 MEIS2 MESD METTL5 MFSD2A MICU1 MID1 MINPP1 MKRN3 MKS1 MPC1 MSL3 MTOR MYL2 MYMX MYO18B MYOD1 NAA10 NAA20 NALCN NCAPD3 NCAPG2 NDN NEXMIF NFIA NIPBL NODAL NOG NONO NPAP1 NRCAM NSRP1 NSUN2 NUP37 NXN OCA2 OCRL ODC1 OGT OPHN1 OTUD6B PACS1 PACS2 PAK3 PAX3 PBX1 PCGF2 PDE4D PDGFRB PGAP2 PGAP3 PGM2L1 PHC1 PIEZO2 PIGB PIGG PIGK PIGL PIGN PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PITX2 PLAA PLPBP PMM2 POGZ POLR3A PPM1D PPP1CB PPP1R15B PPP1R21 PPP2R1A PPP2R5D PQBP1 PREPL PRKACB PRKAR1B PRKDC PSMD12 PTCH1 PTRH2 PUF60 PURA PWAR1 PWRN1 PYCR2 QRICH1 RAB11B RAD21 RAI1 RALA RAPSN RFX7 RHOBTB2 RNF135 RNU4ATAC ROR2 RPL10 RPS7 RSPRY1 RTL1 RYR1 SARS1 SASS6 SATB2 SC5D SCN1A SCN4A SEC23A SETBP1 SETD1A SETD5 SH3PXD2B SHH SHMT2 SIM1 SIN3A SIX3 SLC1A3 SLC25A24 SLC25A46 SLC26A2 SLC2A1 SLC35A2 SLC6A1 SLC9A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SNIP1 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SPATA5L1 SPECC1L SPEN SPTBN1 SRCAP SSR4 STAG2 STEEP1 STIL STRADA STT3A SUFU SUPT16H SYNGAP1 SYT1 TAF1 TAF13 TAF6 TAF8 TASP1 TBC1D24 TBCE TBCK TBL1XR1 TCF20 TCF3 TDGF1 TGFB3 TGIF1 THOC6 THUMPD1 TLK2 TMEM147 TMEM237 TMEM53 TMEM94 TNRC6B TOE1 TPR TRAPPC10 TRAPPC14 TRAPPC9 TRIO TRIP12 TRMT10A TRPS1 TRRAP TTC5 TUBGCP2 TWIST2 UBE3B UFC1 UNC80 USP9X VPS35L VPS51 WAC WARS1 WARS2 WASHC4 WDR19 WDR26 WDR4 WDR62 WNT5A YY1 ZBTB18 ZC4H2 ZIC2 ZMIZ1 ZNF292 ZNF407 ZNF462 ZNF526 ZNHIT3 ZSWIM6 HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL ALDOB EHHADH GATM HPRT1 MOCS1 MOCS2 NDUFAF6 PNP PRPS1 SLC22A12 SLC2A9 SLC34A1 HP_ABNORMALITY_OF_URINE_BICARBONATE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_BICARBONATE_LEVEL ALDOB EHHADH GATM NDUFAF6 OCRL SLC34A1 HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION ADCY10 ALPL AMMECR1 AP2S1 ATP6V0A4 ATP7B BAZ1B BCL7B BSND BTNL2 BUD23 CASR CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CFTR CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CYP24A1 DNAJC30 EHHADH EIF4H ELN FAM20A FCGR2A FGF23 FKBP6 FXYD2 GATM GCM2 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 HNF1B INSR KCNJ1 KCNJ10 KCNJ5 LIMK1 MAGED2 MEN1 METTL27 MLXIPL NCF1 NDUFAF6 OCRL PHEX PIGT PIK3C2A PTH1R RFC2 SLC12A1 SLC12A3 SLC22A12 SLC2A2 SLC2A9 SLC34A1 SLC34A3 STX1A TBL2 TGFB1 TMEM270 TNFRSF11B VPS37D HP_ABNORMALITY_OF_URINE_HOMEOSTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS AASS ABCC2 ABCC6 ABCC8 ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACP5 ACSF3 ACSL4 ACTN4 ACVR1B ACVRL1 ADAMTS13 ADCY10 AGA AGGF1 AGK AGXT AGXT2 AKR1D1 ALAD ALDH4A1 ALDH5A1 ALDH6A1 ALDOA ALDOB ALG5 ALG9 ALK ALPL AMMECR1 AMN AMT ANKFY1 ANLN ANO5 AP2S1 APC APOA1 APOE APOL1 APPL1 APRT AQP2 ARG1 ARHGAP24 ARHGDIA ARNT2 ARSB ARSK ASL ASPA ASPH ASS1 ATAD3A ATIC ATP11C ATP1A1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A4 ATP6V1B2 ATP7B ATPAF1 ATPAF2 AUH AVPR2 B2M BANK1 BAZ1B BCKDHA BCKDHB BCL7B BCOR BCS1L BICC1 BLK BLVRA BRCA2 BSND BTD BTNL2 BUD23 C3 C4A C4B CA5A CACNA1S CAD CAMKMT CASK CASP10 CASR CBS CCND1 CD109 CD2AP CD320 CD46 CD59 CD81 CDC73 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEL CFB CFH CFHR5 CFI CFTR CHUK CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLEC7A CLIP2 CLPB CLTRN COA8 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COQ2 COQ6 COQ8B CORIN COX14 COX16 CPOX CPS1 CPT1A CPT2 CR2 CRB2 CRPPA CTH CTLA4 CTNNB1 CTNS CUBN CYC1 CYP11A1 CYP11B1 CYP11B2 CYP21A2 CYP24A1 CYP27B1 CYP2R1 D2HGDH DAAM2 DBH DBT DCDC2 DCXR DDB2 DDOST DGKE DGUOK DHTKD1 DIS3L2 DLD DLST DMD DMGDH DMP1 DNAJB11 DNAJC19 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPH1 DPYD DPYS EHHADH EIF4H ELN EMP2 ENG ENPP1 EPAS1 ERBB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ETFA ETFB ETFDH ETHE1 ETS1 EXT2 F10 F2 F5 F8 FAH FAM20A FAN1 FARS2 FBP1 FCGR2A FCGR2B FCGR3B FDX2 FGA FGF23 FGFR2 FH FIP1L1 FKBP6 FKRP FLAD1 FLT1 FMO3 FN1 FOCAD FOXC2 FOXP2 FTCD FUCA1 FXYD2 G6PC1 G6PD GAA GABRA3 GALE GALK1 GALNS GALT GANAB GAPVD1 GATA1 GATA3 GATA6 GATM GBA1 GCDH GCK GCLC GCM2 GDF2 GEMIN4 GGT1 GK GLA GLB1 GLDC GLUD1 GLYCTK GNA11 GNAS GNAS-AS1 GNE GNPTAB GNPTG GNS GON7 GP1BA GP1BB GP9 GPC3 GPHN GRHPR GSN GSS GTF2I GTF2IRD1 GTF2IRD2 GUCY2D GUSB GYS2 H19 HACE1 HADH HADHA HADHB HAL HBB HCFC1 HELLPAR HGD HGSNAT HIBCH HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS HMBS HMGCL HMOX1 HNF1A HNF1B HNF4A HOGA1 HPD HPRT1 HRAS HSD11B2 HSD17B10 HSD3B2 HSPD1 HTRA2 IBA57 IDH1 IDH2 IDS IDUA IER3IP1 IFT122 IFT140 IFT172 IGHG1 IL10 IL17F IL17RA IL17RC IL1B IL1RN INF2 INPPL1 INS INSR IRAK1 IRF1 IRF2BP2 IRF5 ISCU ITGA2 ITGA2B ITGA3 ITGA6 ITGA8 ITGAM ITGB3 ITGB4 IVD JAZF1 KANK2 KARS1 KCNE5 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ18 KCNJ5 KHK KIAA0319L KIF1B KIF23 KIRREL1 KLF11 KLF6 KRAS KRT18 KYNU L2HGDH LAGE3 LAMB2 LARS2 LCAT LDHA LDHD LETM1 LIMK1 LIN28B LIPT1 LMAN1 LMBRD1 LMNA LMNB2 LMO1 LMX1B LPIN1 LPIN2 LRP2 LRPPRC LYRM4 LYZ MAF MAFB MAGED2 MAGI2 MAN2B1 MANBA MARS1 MAX MC2R MCCC1 MCCC2 MCEE MCFD2 MDH2 MECP2 MED12 MEFV MEN1 METTL27 MIA3 MICOS13 MLIP MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCOS MOCS1 MOCS2 MPC1 MRAP MRPS2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTR MTRR MTX2 MUC1 MUTYH MVK MYCN MYH9 MYO1E NABP1 NADK2 NAGA NAGLU NCF1 NDUFA9 NDUFAF6 NDUFB10 NDUFS4 NEU1 NEUROD1 NF1 NFS1 NFU1 NGLY1 NHERF1 NIPBL NNT NOS1AP NOS3 NOTCH2 NPHP1 NPHP3 NPHS1 NPHS2 NPM1 NPR2 NR0B1 NRAS NSMCE2 NT5C3A NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OAT OBSCN OCRL OFD1 OGDH OPA3 OPLAH OSGEP OTC OXCT1 OXGR1 P4HA2 PAH PAX2 PAX4 PBX1 PCBD1 PCCA PCCB PCK1 PDCD1 PDP1 PDSS2 PDX1 PEPD PET100 PET117 PEX1 PEX14 PEX5 PFKM PGAM2 PGK1 PGM2L1 PHEX PHKA1 PHKA2 PHKB PHKG2 PHOX2B PHYKPL PIEZO1 PIGA PIGB PIGT PIK3C2A PIK3CA PKD1 PKD2 PLCE1 PLOD1 PLOD2 PML PMM2 PNP POLG POLRMT POU6F2 PPM1B PPOX PRDX1 PREPL PRKAR1A PRODH PRPS1 PRTN3 PSTPIP1 PTH1R PTPN22 PTPRO PUS3 PXK PYGL PYGM RARA REN REST RET RFC2 RMRP RNU7-1 RPIA RRM2B RYR1 SAA1 SARDH SARS2 SAT1 SCARB2 SCNN1A SCO1 SDHA SDHAF2 SDHB SDHC SDHD SERAC1 SERPINA6 SERPINF2 SFXN4 SGCB SGPL1 SGSH SH2B1 SHPK SKIC3 SLC12A1 SLC12A3 SLC13A3 SLC16A1 SLC16A12 SLC18A2 SLC19A2 SLC1A1 SLC22A12 SLC22A5 SLC25A1 SLC25A11 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A21 SLC25A4 SLC26A1 SLC28A1 SLC2A2 SLC2A9 SLC34A1 SLC34A2 SLC34A3 SLC35A1 SLC36A2 SLC37A4 SLC3A1 SLC52A1 SLC52A2 SLC5A1 SLC5A2 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC7A7 SLC7A9 SLCO1B1 SLCO1B3 SLCO2A1 SMAD4 SMARCAL1 SNAP29 SNX14 SPINK5 SPP1 SPRY2 SPTBN1 SREBF1 STAR STAT2 STAT3 STAT4 STAT5B STIM1 STK11 STOX1 STX16 STX1A SUCLA2 SUCLG1 SUGCT SUMF1 SUOX SURF1 TAFAZZIN TANGO2 TAT TBC1D24 TBC1D8B TBL1XR1 TBL2 TCN2 TDO2 TERT TFAM TGFB1 THBD TIMM50 TK2 TKT TLR7 TMEM126B TMEM127 TMEM270 TMEM67 TMEM70 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF4 TNIP1 TOP2A TP53 TP53RK TPK1 TPRKB TRAF3IP2 TREX1 TRIM28 TRIM8 TRIP13 TRMT5 TRMU TRNT1 TRPC6 TRPV4 TRPV6 TSC1 TSC2 TTC26 TXNRD2 UBE2L3 UMPS UNC45A UQCRB UROC1 UROD UROS VHL VIPAS39 VPS33A VPS33B VPS37D VPS50 WDR19 WDR4 WDR73 WT1 XDH XPA XPC YAP1 YRDC ZAP70 ZBTB16 ZNRF3 HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY BMP6 BMPR2 CD55 F5 HFE JAK2 MPL MYH7 PIGA TERC TERT TET2 TINF2 HP_ABNORMALITY_OF_VISION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VISION AAAS AARS1 ABCA1 ABCA4 ABCA7 ABCC6 ABCD1 ACO2 ACTB ACTL6B ACVRL1 ADA2 ADAM9 ADAMTS10 ADAMTSL4 ADARB1 ADGRV1 ADNP ADPRS ADRA2B AFF3 AFF4 AFG3L2 AGBL1 AGBL5 AGO2 AGRN AGTPBP1 AHDC1 AHI1 AHR AHSG AIFM1 AIMP1 AIP AIPL1 AIRE AK9 AKT1 AKT3 ALDH3A2 ALG11 ALG2 ALG3 ALMS1 ALPK1 AMACR AMPD2 ANGPTL6 ANKH ANKRD11 ANKRD55 ANO10 ANOS1 ANTXR1 AP1B1 AP1G1 AP1S2 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APOA1 APOE APP ARHGDIA ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL2 ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARPC4 ARSA ARSG ARSK ARV1 ARX ASB10 ASNS ASPA ASPH ATF6 ATIC ATN1 ATOH7 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A1 ATP6V1A ATP8A2 ATPAF1 ATPAF2 ATRX ATXN3 ATXN7 B3GALNT2 B3GAT3 B3GLCT B4GAT1 BAP1 BAZ1B BBS1 BBS2 BBS4 BBS5 BCL10 BCL7B BCOR BDNF BEST1 BIRC3 BLOC1S3 BLOC1S5 BMP4 BMPR1A BOLA3 BRAF BRAT1 BRCA1 BRCA2 BRIP1 BTD BTNL2 BUB1 BUB1B BUB3 BUD23 C19orf12 C1QBP C1QTNF5 C4A CA2 CA4 CA8 CABP4 CACNA1A CACNA1B CACNA1D CACNA1E CACNA1F CACNA1G CACNA1I CACNA2D1 CACNA2D4 CALR CAMK2A CAMK2B CAMSAP1 CAPN5 CARS1 CARS2 CASK CASZ1 CBS CC2D2A CCDC141 CCDC28B CCDC47 CCND1 CCR1 CD109 CD247 CDC42 CDC42BPB CDH1 CDH23 CDH3 CDHR1 CDK19 CDK8 CDKL5 CDON CEACAM16 CELF2 CEP120 CEP164 CEP250 CEP290 CEP41 CEP57 CEP78 CEP85L CERKL CERT1 CFAP410 CFAP418 CFH CFHR1 CFHR3 CFI CHAT CHD3 CHD7 CHKA CHM CHMP1A CHN1 CHP1 CHRDL1 CHRNA1 CHRNB1 CHRND CHRNE CHST3 CHST6 CIB2 CKAP2L CLCC1 CLCN2 CLCN4 CLCN6 CLCN7 CLCNKB CLEC3B CLEC7A CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLRN1 CLTC CLTRN CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 CNTN2 CNTNAP1 COG4 COG5 COL11A1 COL13A1 COL17A1 COL18A1 COL25A1 COL2A1 COL3A1 COL4A1 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COPB2 COQ2 COQ7 CORIN COX11 COX6B1 COX7B CPSF3 CRB1 CREBBP CRLS1 CRPPA CRX CRYAA CRYBB1 CRYGC CSF1R CSPP1 CST6 CTC1 CTLA4 CTNNA1 CTNNB1 CTNND1 CTNND2 CTNS CTSD CTSH CWC27 CYFIP2 CYP1B1 CYP27A1 CYP4V2 CYSLTR2 D2HGDH DACT1 DALRD3 DARS2 DBH DCC DCN DCT DDB2 DDR2 DDX3X DHDDS DHX37 DHX38 DIAPH1 DISP1 DKK1 DLAT DLD DLL1 DNAJC13 DNAJC30 DNAJC6 DNM1 DNM1L DNMBP DOCK6 DOCK7 DOHH DOK7 DOLK DPAGT1 DPF2 DPM1 DPP6 DPYD DRAM2 DTNBP1 DTYMK DUSP6 DYRK1A EARS2 EBP EDN3 EDNRA EDNRB EEF1A2 EFEMP1 EIF2B1 EIF2B3 EIF4G1 EIF4H ELMO2 ELN ELOVL1 ELOVL4 ELP4 EMC1 ENG ENPP1 EPCAM EPM2A EPRS1 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESPN ESR1 ESRRB EXOSC2 EXOSC3 EXOSC8 EXOSC9 EYS FA2H FAM161A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FBN1 FBN2 FBXO28 FBXW7 FCSK FDFT1 FDX2 FDXR FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FKBP6 FKRP FKTN FLNA FLRT3 FLT1 FLVCR1 FN1 FOXC1 FOXC2 FOXE3 FOXH1 FOXL2 FOXP1 FOXRED1 FRAS1 FREM2 FRMD7 FSCN2 FXN FZD4 FZR1 GABBR2 GABRA2 GABRA5 GABRB1 GABRB2 GABRD GABRG2 GALC GAN GAS1 GATA1 GATA2 GBA1 GDF2 GDF3 GDF6 GGCX GIGYF2 GIPC3 GJA1 GJB2 GJB6 GLB1 GLI2 GLRX5 GLYCTK GM2A GMPPA GMPPB GNA11 GNAQ GNAS GNAT1 GNAT2 GNB1 GNB3 GNS GORAB GP1BA GP1BB GPAA1 GPR101 GPR143 GPR179 GRHL2 GRIK2 GRIN1 GRIN2D GRIP1 GRK1 GRM6 GRM7 GRN GRXCR2 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUCA1A GUCA1B GUCY2D GUSB H1-4 H3-3A H4C3 H4C9 HADHA HARS1 HCCS HCN1 HCRT HDAC4 HECW2 HESX1 HEXA HEXB HGD HGSNAT HIKESHI HK1 HKDC1 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMCN1 HMX1 HPDL HPS1 HPS3 HPS4 HPS5 HPS6 HRAS HS6ST1 HSD17B10 HSD17B4 HSD3B7 HSPG2 HTRA2 IBA57 IDH3A IDH3B IDS IFNGR1 IFT140 IFT172 IFT43 IFT74 IFT88 IGBP1 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL17RD IL23R IL2RA IL2RB IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 IQSEC1 ISCA2 ITGA2 ITGA2B ITGB3 ITGB6 ITM2B ITPR1 JAK2 KANSL1 KARS1 KAT6A KCNA1 KCNA2 KCNAB2 KCNB1 KCND3 KCNJ13 KCNN2 KCNQ2 KCNT1 KCNV2 KCTD7 KERA KIAA0586 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1C KIF21A KIF3B KIF5A KIZ KLHL7 KLRC4 KMT2B KMT2D KRAS KRT12 KRT14 KRT3 KRT5 LAMA1 LAMB2 LAMC3 LAMP2 LARGE1 LCA5 LCAT LETM1 LIFR LIM2 LIMK1 LMBRD2 LMNB1 LONP1 LRAT LRIT3 LRMDA LRP1 LRP2 LRP4 LRP5 LRPAP1 LRRK2 LSS LTBP2 LUZP1 LYRM7 LYST LZTFL1 MAB21L1 MACF1 MAD2L2 MAF MAFB MAG MAGEL2 MAK MALT1 MAP2K1 MAP2K2 MAP3K7 MAPK8IP3 MAPKAPK3 MAPT MARCHF6 MARK3 MBD5 MBTPS2 MC1R MCOLN1 MECR MED12 MED25 MEFV MEN1 MERTK METTL27 MFF MFN2 MFRP MFSD8 MGME1 MICOS13 MICU1 MIR140 MIR184 MIR204 MITF MKS1 MLH1 MLH3 MLX MLXIPL MMACHC MMP1 MMP19 MMP23B MOG MORC2 MPDZ MPL MPLKIP MSH2 MSH6 MSX2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFS MTOR MTR MTRFR MTRR MTTP MUSK MVK MYO5A MYO6 MYO7A MYO9A MYOC NAA10 NAB2 NADK2 NAGA NAPB NARS2 NBAS NCAPG2 NCF1 NDE1 NDN NDNF NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEK2 NEU1 NEUROD2 NF1 NF2 NFIX NFKB2 NHLRC1 NHLRC2 NHS NLRP1 NLRP3 NMNAT1 NOD2 NODAL NOG NOP56 NOTCH2NLC NOTCH3 NPHP1 NPHP3 NPHP4 NPTX1 NR2E3 NR2F1 NR3C1 NRAS NRL NSMCE2 NTRK2 NUBPL NUS1 NYX OAT OCA2 OCRL OFD1 OGDHL OGT OPA1 OPA3 OPN1LW OPN1MW OPN1SW OSGEP OSTM1 OTX2 OVOL2 P2RY11 P3H2 P4HA2 P4HTM PACS2 PAK2 PALB2 PANK2 PANK4 PARK7 PARS2 PAX2 PAX3 PAX6 PCARE PCDH12 PCDH15 PCNA PCYT1A PCYT2 PDCD1 PDE4D PDE6A PDE6B PDE6C PDE6G PDE6H PDGFB PDHA1 PDPN PDSS2 PDXK PDZD7 PDZD8 PEPD PERCC1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHF6 PHGDH PHOX2A PHYH PI4KA PIEZO2 PIGA PIGB PIGN PIGP PIGQ PIGS PIGT PIGU PIGY PIK3CA PIK3R2 PIKFYVE PINK1 PITPNM3 PITX2 PITX3 PLA2G5 PLA2G6 PLCB1 PLCD1 PLCH1 PLEKHM1 PLG PLK4 PLOD1 PLXND1 PMPCB PMS1 PMS2 PNPLA6 PNPT1 POC1B PODXL POGZ POLA1 POLG POLG2 POLH POLR1A POLR1B POLR1C POLR1D POLR2A POLR3GL POMGNT1 POMK POMT1 POMT2 PORCN POU3F4 PPP1R12A PPP2CA PPP2R1A PPP3CA PPT1 PQBP1 PRCD PRDM16 PRDM5 PRDX1 PRIMPOL PRKCZ PRKDC PRKN PRNP PROK2 PROKR2 PROM1 PRORP PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRSS56 PRTN3 PRUNE1 PSAP PSEN1 PSEN2 PSMD12 PTCH1 PTPN2 PTPN22 PUF60 PUM1 PUS3 PXDN PYCR1 PYCR2 RAB11B RAB18 RAB28 RAB3GAP1 RAB3GAP2 RAC1 RAD51 RAD51C RALGAPA1 RAPSN RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RERE REV3L RFC2 RFT1 RFWD3 RGR RGS9 RGS9BP RHO RHOA RIC1 RILPL1 RIMS1 RIMS2 RLBP1 RMRP RNASEH1 RNF113A RNF13 RNU12 RNU4ATAC ROM1 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPS20 RRAS2 RRM2B RS1 RTN4IP1 SAG SALL1 SALL2 SALL4 SAMD12 SAMD9L SAR1B SARDH SATB1 SATB2 SCAPER SCN1A SCN2A SCN3A SCN4A SCN8A SCN9A SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SELENOI SEMA3A SEMA3E SEMA4A SEPSECS SERPINI1 SETBP1 SETD1A SETD5 SF3B1 SF3B2 SFXN4 SH2B3 SH3BP2 SH3TC2 SHANK3 SHH SIX3 SKI SLC12A3 SLC12A5 SLC13A5 SLC18A3 SLC19A2 SLC1A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC2A1 SLC31A1 SLC35A2 SLC38A3 SLC38A8 SLC39A14 SLC39A4 SLC45A2 SLC4A11 SLC4A2 SLC52A2 SLC5A7 SLC6A19 SLC6A6 SLC7A14 SLX4 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMCHD1 SMG9 SMO SNAP25 SNAP29 SNCA SNRNP200 SNRPN SNX10 SOBP SON SORL1 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SPATA5 SPATA5L1 SPATA7 SPEN SPG11 SPRY4 SPTBN1 SPTBN2 SPTBN4 SRD5A3 SREBF1 SRY SSBP1 ST14 ST3GAL5 STAG2 STAT4 STAT6 STIL STIM1 STOX1 STX1A STX3 SUCLA2 SUFU SUMF1 SUOX SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TACR3 TACSTD2 TANGO2 TAOK1 TARS1 TASP1 TAT TBC1D20 TBC1D24 TBC1D2B TBCK TBL2 TBX1 TCF4 TCIRG1 TCOF1 TDGF1 TDO2 TEK TELO2 TENM3 TERT TET2 TFE3 TFG TGFB1 TGFBI TGFBR2 TGFBR3 TGIF1 THOC2 THPO THSD1 TIMM8A TIMMDC1 TIMP3 TK2 TLCD3B TLR4 TMEM126A TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM270 TMEM53 TMEM67 TMEM98 TNF TNFRSF11A TNFSF11 TNFSF4 TOMM40 TOP3A TOPORS TP53 TP53RK TP63 TPP1 TRAF3IP1 TRAF3IP2 TRAF7 TRAK1 TRANK1 TRAPPC11 TRAPPC12 TRAPPC2L TRAPPC9 TREM2 TREX1 TRIM44 TRIO TRIP13 TRNT1 TRPM1 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSPAN12 TTC19 TTC8 TTLL5 TTPA TTR TUB TUBA1A TUBA3D TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TWNK TXNL4A TYMP TYR UBA5 UBAC2 UBE2T UBE4B UCHL1 UFC1 UFM1 UNC119 UROD UROS USH1C USH1G USH2A USP45 USP48 USP8 VAMP1 VAMP2 VCAN VHL VLDLR VPS11 VPS13B VPS13C VPS35 VPS37D VPS4A VPS51 VRK1 VSX1 WAC WARS2 WASF1 WDR11 WDR19 WDR26 WDR45 WDR45B WDR81 WFS1 WHRN WNT10A WT1 WWOX XPA XPC XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS1 YEATS2 YIF1B YME1L1 YWHAG YY1 ZEB1 ZEB2 ZFHX4 ZFYVE26 ZIC2 ZMIZ1 ZNF365 ZNF408 ZNF423 ZNF469 ZNF513 ZNHIT3 ZPR1 HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS AAAS ABCA4 ACOX1 ARHGEF2 ARSA ATP1A3 ATXN1 CLCN7 CLN5 CLN8 CNGB3 COX6B1 CWC27 CYP27A1 DNM1L ELOVL4 EMC1 ERCC6 ERCC8 FXN GALC GJC2 LAMA2 MECR MFF MFN2 MOGS MPDU1 NDRG1 NDUFS4 NOTCH3 OPA1 OSTM1 PLA2G6 POGZ POLG POMGNT1 PROM1 PRPH2 PRPS1 PSAP RAB18 RAB3GAP1 RAB3GAP2 RDH11 SCAPER SLC25A22 SNX10 SPG11 SUCLA2 TBC1D20 TCIRG1 TIMM8A TNFSF11 TTPA TYR ZNHIT3 HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM APOB BCO1 CYP7A1 DNAJC21 DZIP1L EFL1 FARSB FOCAD GBA2 GPR35 MST1 MTTP PKHD1 SBDS SEMA4D SLC51B SRP54 TCF4 HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM ABCD1 ABCD4 ACSF3 ALDH6A1 AMN CASP10 CBLIF CCND1 CD320 CUBN FAS FASLG GRM7 GUCY2C HCFC1 HLA-DQA1 HLA-DQB1 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT MTHFD1 MTR MTRR PRDX1 PRKCD RASGRP1 RNF13 SLC19A1 SUCLA2 SUCLG1 TCN2 HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM ABCD1 ABCD4 ACSF3 ALDH4A1 ALDH6A1 AMN CASP10 CBLIF CCND1 CD320 CUBN DHFR DLAT FAS FASLG FTCD GRM7 GUCY2C HCFC1 HLA-DQA1 HLA-DQB1 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT MTHFD1 MTR MTRR OTUD5 PNPLA8 PRDX1 PRKCD RASGRP1 RNF13 SIM1 SLC19A1 SLC46A1 SLC52A1 SPTBN1 SUCLA2 SUCLG1 TCN2 TTR ZNF699 HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM ACOX2 ALDH18A1 AMACR CLCN5 COL7A1 CTNS CYP27B1 CYP2R1 CYP3A4 DMP1 DNAJC21 DZIP1L EFL1 ELN ENPP1 FARSB FBLN5 FGF23 FOCAD GALNT2 GALNT3 GALT GATA1 GPR35 HLA-DQA1 HLA-DQB1 IARS1 KL LRP5 MMP1 MST1 MTTP OCRL PKHD1 PTH1R RPL11 RPS10 SBDS SEMA4D SLC10A1 SLC34A1 SLC34A3 SLC37A4 SLC51B SRP54 TCF4 UROS VDR HP_ABNORMALITY_OF_VITAMIN_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_METABOLISM ABCD1 ABCD4 ACOX2 ACSF3 AKR1D1 ALDH18A1 ALDH4A1 ALDH6A1 AMACR AMN APOB BCO1 CASP10 CBLIF CCND1 CD320 CLCN5 COL7A1 CTNS CUBN CYP27B1 CYP2R1 CYP3A4 CYP7A1 CYP7B1 DHFR DLAT DMP1 DNAJC21 DZIP1L EFL1 ELN ENPP1 FARSB FAS FASLG FBLN5 FGF23 FOCAD FTCD GALNT2 GALNT3 GALT GATA1 GBA2 GPR35 GRM7 GUCY2C HCFC1 HLA-DQA1 HLA-DQB1 IARS1 KL LMBRD1 LRP5 MMAA MMAB MMACHC MMADHC MMP1 MMUT MST1 MTHFD1 MTR MTRR MTTP OCRL OTUD5 PKHD1 PNPLA8 PRDX1 PRKCD PTH1R RASGRP1 RNF13 RPL11 RPS10 SAR1B SBDS SEMA4D SIM1 SLC10A1 SLC19A1 SLC30A10 SLC34A1 SLC34A3 SLC37A4 SLC46A1 SLC51B SLC52A1 SPTBN1 SRP54 SUCLA2 SUCLG1 TCF4 TCN2 TJP2 TTPA TTR UROS VDR ZNF699 HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR F8 FOXP2 GP1BA GP1BB GP6 GP9 IKZF5 ITGA2B ITGB3 NBEAL2 SLC37A4 VWF HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING ABCC6 ACP5 ACTA1 ACTN2 AGRN AK9 AKT1 ALMS1 ARSB B3GALT6 BAG3 BAP1 BICD2 BTNL2 CD19 CD81 CEACAM3 CEACAM6 CFAP410 CFTR CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CLCA4 COL13A1 COL2A1 COL6A2 COPA CR2 CRPPA CSF2RA CSF2RB CTLA4 DCTN4 DDR2 DKC1 DLK1 DMD DNAH11 DNAH9 DNASE1L3 DOK7 EDNRA EIF2AK4 ENG FAM111B FARSA FCGR2A FGFR3 FKRP FLNB FRG1 GALNS GCLC GDAP1 GGPS1 GIPC1 GLB1 GNPTAB GSTM3 HCK HES7 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HPS1 HPS4 ICOS IDS IKZF1 IRF2BP2 ITCH JAG2 KBTBD13 KCNN4 KLHL41 LRP12 LRP4 MAP3K20 MCIDAS MEG3 MEGF10 MESP2 MIF MS4A1 MT-TL1 MT-TL2 MT-TN MT-TS1 MUC5B MUSK MYH7 MYO1H MYOT MYPN NAA10 NDUFAF6 NEB NEK10 NF2 NFKB1 NFKB2 NKX2-1 NLRP3 NOTCH2NLC PARN PDGFB PIEZO2 PIK3CA PLOD1 POGLUT1 PRKCD PRTN3 PTPN22 PUS1 PYROXD1 RAPSN RILPL1 RNF168 RNU4ATAC RPA1 RTEL1 RTL1 SBF2 SCN4A SCNN1A SCNN1B SCNN1G SELENON SERPINA1 SFTPA1 SFTPA2 SFTPC SGCG SLC11A1 SLC12A6 SLC25A21 SLC26A9 SLC34A2 SLC6A14 SLC9A3 SMARCB1 SMARCE1 SMO SMPD1 STAC3 STK36 STX1A SUFU SYNE1 SYT2 TERT TGFB1 TINF2 TNFRSF13B TNFRSF13C TNFSF12 TNNC2 TNNT1 TOR1A TOR1AIP1 TPM2 TPM3 TRAF7 TRAPPC11 TRIP4 TSC1 TSC2 TTN UNC45B VCP WDR19 XYLT1 XYLT2 HP_ABNORMALLY_FOLDED_HELIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_FOLDED_HELIX ACTB AGO2 AMER1 AMMECR1 ARVCF ASXL2 BCL11A BCOR BHLHA9 BICRA CBL CDK13 CHD7 CHUK CLIC2 COL2A1 COMT CPT2 CREBBP CSNK2A1 CSPP1 DACT1 DDX6 EBF3 EBP EFTUD2 FANCB FBN2 FGFR2 FN1 FOXP2 FREM1 FZD2 GNAI3 GNB1 GP1BB HIRA HOXA2 HSPG2 JMJD1C KANSL1 KCTD1 KIAA0586 KMT2D LONP1 MAPRE2 MED12 NAA10 NARS1 NFIA NFIX PGM2L1 PIGA PIGB PIGL PIGN PLCB4 PPP1CB PPP2R3C PYCR2 RECQL4 RPS23 RREB1 SALL1 SCARF2 SCNM1 SEC24C SEMA3E SLC16A2 SLC26A2 SLC6A8 SMC1A TASP1 TBX1 TBX2 TCF3 TFAP2A TGFB3 TMEM94 TRIO TUBB TWIST1 UFD1 VPS51 ZMYND11 ZNF462 HP_ABNORMALLY_LARGE_GLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LARGE_GLOBE ADAMTSL1 AKT1 ALKBH8 ARX ATOH7 ATR B3GAT3 CASK CHST3 CHSY1 COL2A1 CPSF1 CYP1B1 DAG1 FBN1 FGFR2 FKRP FKTN FUT8 FZD4 GLIS3 GNAQ KCNJ1 KCNJ6 LARGE1 LRPAP1 LTBP2 MAB21L1 NCAPG2 NDP OCRL PIGV PIK3R2 POMGNT1 POMK POMT1 POMT2 PTEN PXDN SBF2 SH3PXD2B SIX6 TWIST1 WDR26 HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN AARS1 ABCC6 ACD ADAMTS2 ADAMTSL2 AEBP1 AKT3 ALDH18A1 ALG12 ALG8 ANTXR1 ASXL1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT1 B4GALT7 BAZ1B BCL11B BCL7B BRAF BUD23 C1R C1S CD96 CDK13 CEP55 CFTR CHST14 CHST3 CLIP2 COG7 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CSPP1 CSTA DKC1 DLK1 DNAJC30 DSE EBP EED EFEMP2 EHMT1 EIF4H ELN ENPP1 EXT1 EZH2 FBLN5 FBN1 FGD1 FGF20 FGFR2 FGFR3 FIG4 FKBP14 FKBP6 FLNA FOXC1 GATA1 GBA1 GGCX GNB2 GORAB GPX4 GSN GTF2I GTF2IRD1 GTF2IRD2 H1-4 H4C5 HPGD HRAS IARS1 IFT140 IFT43 INSR IPO8 KIAA0586 KMT2C KRAS LIMK1 LTBP1 LTBP4 LZTR1 MAN1B1 MAP2K1 MAP2K2 MAPRE2 MEG3 MEGF8 METTL27 MLXIPL MRAS MRPS16 MRPS22 NAA10 NBAS NCF1 NDUFB10 NDUFB11 NEPRO NPR2 NSD1 OTUD5 PARN PAX2 PDGFRB PEX1 PIK3R1 PITX2 PLOD1 PRDM5 PRMT7 PTDSS1 PTEN PTPN11 PUF60 PYCR1 RAD21 RAF1 RFC2 RIN2 RIT1 RPS6KA3 RTEL1 RTL1 SH3PXD2B SHOC2 SKI SLC25A24 SLC26A2 SLC2A10 SLC39A13 SLC6A8 SLC7A7 SMARCA2 SMARCD2 SON SPINT2 SRD5A3 STX1A SUZ12 TBL1XR1 TBL2 TBX15 TERT TGFB2 TGM5 TINF2 TMEM270 TNXB TRAF7 TRPS1 TUBB TWIST2 VAC14 VPS37D WDR19 WDR35 WDR37 WDR81 WLS XYLT1 XYLT2 YY1 ZNF469 HP_ABNORMALLY_LOW_PITCHED_VOICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_PITCHED_VOICE BRD4 EED EZH2 GRIN2A HDAC8 NIPBL NSD1 RAD21 SMC1A SMC3 SRPX2 SUZ12 TRPS1 HP_ABNORMALLY_LOW_T_CELL_RECEPTOR_EXCISION_CIRCLE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_T_CELL_RECEPTOR_EXCISION_CIRCLE_LEVEL BCL11B DCLRE1C FOXN1 IL2RG LCP2 RAC2 RPA1 STN1 HP_ABNORMALLY_OSSIFIED_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_OSSIFIED_VERTEBRAE ALPL BMPER COL11A2 COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 EBP FLNB HSPG2 IFT80 INPPL1 LBR LEMD3 LFNG NKX3-2 RMRP RNU4ATAC RSPO2 SLC26A2 SOX9 TRAPPC2 TRIP11 VPS35L WDR35 WNT3 HP_ABNORMALLY_SHAPED_CARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_SHAPED_CARPAL_BONES COMP DYM EIF2AK3 GDF5 GNPTAB IDH1 KIF22 HP_ABNORMAL_1ST_METACARPAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_1ST_METACARPAL_MORPHOLOGY ACVR1 BMPR1B BRD4 CANT1 DLK1 FANCD2 FANCI FIG4 FZD2 GDF5 GNAS HDAC8 HOXA13 IHH LAMA5 LMBR1 MEG3 NIPBL NOG NONO NPR3 PCNT PQBP1 RAD21 RNU4ATAC ROBO1 RTL1 SALL4 SETBP1 SHH SMC1A SMC3 SOX9 SRCAP TRIO VAC14 VPS35L XRCC2 HP_ABNORMAL_2ND_FINGER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY ANKRD11 BHLHA9 BMP2 BMPR1B CANT1 CHSY1 COL1A1 COL2A1 CSGALNACT1 FGFR2 FIG4 FLNA FOXP2 GDF5 GPC3 GPC4 HNRNPR HOXA13 HOXD13 IFT140 IHH INTU IRX5 KIF15 KNSTRN LFNG MED12 MED25 MEIS2 MYCN NEDD4L NSDHL OPA3 PIK3CD PLOD3 PTRH2 RPL10 RUNX2 SRCAP TGDS TWIST1 HP_ABNORMAL_2ND_METACARPAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_METACARPAL_MORPHOLOGY BMP2 BMPR1B GDF5 GLI3 RUNX2 SALL1 HP_ABNORMAL_3RD_FINGER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY CHSY1 COL1A1 COL2A1 DLK1 EN1 FGFR2 GDF5 GLI3 GNAS IHH KNSTRN MED25 MEG3 NEDD4L NSDHL PIK3CD PKDCC PLOD3 PTRH2 RTL1 SLC26A2 SMC1A TBX2 TBX3 TWIST1 HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY CHSY1 COL2A1 FGFR2 GDF5 GNAS NSDHL TWIST1 HP_ABNORMAL_4TH_FINGER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY ABCC8 ASXL3 COL11A1 COL2A1 FBXW11 GDF5 GLI3 IHH KCNJ11 KDM5B KNSTRN MECOM NARS2 NOG PIK3CD SIN3A SNRPN TBX2 TBX3 TLK2 HP_ABNORMAL_4TH_METACARPAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_METACARPAL_MORPHOLOGY DCHS1 EIF4A3 FAT4 FBXL3 FERMT1 FGF16 FLNA GLI3 GNAS HOXD13 LBR PIGS PORCN PRKG2 PTCH1 SHOX SMOC1 SRY SVBP TBX3 HP_ABNORMAL_5TH_FINGER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY ABL1 ACVR1 ADNP AFF2 AGO2 AKT1 AKT3 ALDH1A2 ALG12 ALX3 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1A ARID1B ARID2 ARL6 ARMC9 ARPC4 ATG7 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GLCT B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCR BHLHA9 BLM BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C2CD3 CANT1 CASZ1 CBL CC2D2A CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCND2 CCNK CCNQ CD96 CDC45 CDC6 CDH11 CDKN1C CDT1 CENPE CENPJ CEP120 CEP152 CEP19 CEP290 CEP55 CEP57 CFAP418 CHD7 CHRNA7 CHST3 CHSY1 CIBAR1 CITED2 CKAP2L CLCN3 CLIP2 CNOT2 CNOT3 COL11A1 COL27A1 COL2A1 COX4I1 CPLANE1 CREBBP CRKL CSGALNACT1 CSNK2A1 CSPP1 CTCF CUL4B CUL7 DACT1 DDX11 DDX59 DEAF1 DHCR7 DHPS DNA2 DNAJC30 DONSON DPAGT1 DPF2 DSP DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFNB1 EIF4A3 EIF4H ELN EMG1 EP300 ERCC4 ESCO2 EVC EVC2 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXW11 FGD1 FGF16 FGFR2 FGFR3 FKBP6 FLII FLNA FLNB FLT4 FRA10AC1 FZD2 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GLI2 GLI3 GMNN GNAS GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H3-3B H4C3 HDAC4 HDAC8 HIC1 HMGA2 HNRNPH1 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HSPG2 HYLS1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IGF1 IGF2 IHH INPP5E IQCE IQSEC2 IRX5 JAG1 JARID2 JUP KAT6B KAT8 KCNAB2 KCNJ2 KCNK4 KCTD1 KDM1A KDM4B KDM5B KDM6A KDM6B KDR KIAA0753 KIAA0825 KIF15 KIF7 KIFBP KLF13 KMT2A KMT2B KMT2D KPTN KRAS L1CAM LBR LEMD3 LIFR LIG4 LIMK1 LMBR1 LMNB2 LMX1B LTBP1 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAD2L2 MAF MAN1B1 MAP1B MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MBTPS2 MECOM MECP2 MEF2C MEGF8 MEIS2 METTL27 MIA3 MITF MKKS MKS1 MLXIPL MMP23B MRAS MYCN MYL11 NAA10 NAA20 NCF1 NEDD4L NEK1 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NOG NONO NPHP1 NPR2 NRAS NSD2 NSUN2 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT ORC1 ORC4 ORC6 OTUD5 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PCNT PDE6D PDPN PHF21A PHIP PIEZO2 PIGH PIGL PIGN PIGS PIGY PIK3C2A PIK3R2 PITX1 PKDCC PLAA PLAG1 PLK4 PLXND1 PNPLA6 POLA1 PORCN PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRR12 PTEN PTH1R PTPN11 PUF60 PYROXD1 QRICH1 RAB11B RAB18 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM8A RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL10 RRAS RRAS2 RSPRY1 RUNX2 SALL1 SATB2 SC5D SCAPER SCLT1 SCNM1 SDCCAG8 SEMA3E SETBP1 SH3PXD2B SHANK3 SHOX SIAH1 SIK3 SIN3A SKI SLC29A3 SLC2A10 SLC9A7 SLX4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMOC1 SNRPB SNRPN SOS1 SOS2 SOX11 SOX4 SOX6 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP STAG1 STAG2 STX1A SUFU TBC1D24 TBL2 TBX1 TBX15 TBX3 TBX4 TCF20 TCTN1 TCTN2 TCTN3 TELO2 TFAP2A TFAP2B TGDS TGFBR1 TMCO1 TMEM107 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TP63 TPR TRAIP TRAPPC9 TRIM32 TRIO TRIP13 TRPM3 TRPS1 TRPV4 TRRAP TTC21B TTC8 TWIST1 TWIST2 TXNDC15 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDPCP WDR11 WDR19 WDR35 WDR4 WIPI2 WNT5A WNT7A XRCC2 XRCC4 XYLT1 YWHAE ZC4H2 ZDHHC9 ZFPM2 ZMYM2 ZNF141 ZNF292 ZNF462 HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY ARID1B ATP6V1B2 BHLHA9 BMP2 BMPR1B COL2A1 DVL1 GATA1 GDF5 GJA1 GNB2 HNRNPR HOXD13 IFT140 IGF2 KIF15 MYCN NIN NOG NPR2 PUF60 RBBP8 ROR2 RUNX2 SMARCB1 SRCAP TFAP2B WNT5A ZNF141 HP_ABNORMAL_5TH_METACARPAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_METACARPAL_MORPHOLOGY BMP2 COL11A2 CSPP1 EIF4A3 FBN1 FERMT1 FGF16 FLNA GNAS HOXD13 KIAA0586 LBR LTBP3 NOG PRKG2 RUNX2 SMOC1 SRCAP SVBP TBX3 HP_ABNORMAL_ABDOMEN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ABDOMEN_MORPHOLOGY ABCA1 ABCA12 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCD3 ABCG8 ABHD5 ABL1 ACADM ACADVL ACAT1 ACOX1 ACTN4 ADA ADA2 ADAMTS3 ADAMTSL2 ADAR AFF4 AGA AGGF1 AGL AGPAT2 AGR2 AKR1D1 AKT1 AKT2 ALAS2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG8 ALG9 ALMS1 ALPK1 AMACR ANK1 ANKRD55 ANTXR1 AP3B1 AP3D1 APOA1 APOC2 APOE ARG1 ARHGAP31 ARL13B ARL6IP6 ARSB ARVCF ASAH1 ASL ASS1 ASXL1 ATAD3A ATM ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6AP2 ATP6V1B2 ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX AUH B2M B4GALT1 BAAT BACH2 BAP1 BBS12 BCL11A BCL2 BCL6 BCR BMP2 BMP6 BOLA3 BPGM BRAF BRCA1 BRCA2 BSCL2 BTD BTNL2 BUB1 BUB1B BUB3 C1QBP C2orf69 C4A CA2 CALR CARD11 CASK CASP10 CASP8 CASR CAV1 CAVIN1 CBL CBS CC2D2A CCBE1 CCDC115 CCDC47 CCND1 CCR1 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD55 CD70 CD81 CD96 CDAN1 CDIN1 CDKN1C CDKN2A CEP57 CFAP410 CFTR CHD7 CIDEC CLCN7 CLDN1 CLPB CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COL3A1 COMT COX10 COX14 COX4I2 COX5A CPOX CPT1A CPT2 CR2 CSF3R CSPP1 CTC1 CTLA4 CTNNB1 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 DAXX DCDC2 DCLRE1C DDRGK1 DEF6 DGUOK DHCR24 DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DLL4 DNAJC21 DNASE1L3 DNASE2 DOCK2 DOCK6 DPAGT1 DPM1 DPM2 DYNC2LI1 DZIP1L EARS2 EFL1 EIF2AK3 EIF5A ENPP1 EOGT EPB41 EPB42 EPHB4 EPOR ERAP1 ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH EWSR1 EXTL3 F5 FAH FAM111A FAM111B FARSA FARSB FAS FASLG FAT4 FBN1 FBP1 FCGR2A FCHO1 FDX2 FERMT3 FGA FGFR2 FH FLI1 FLNC FMO3 FOCAD FOS FOXP3 FOXRED1 FSHR FUCA1 G6PC1 G6PC3 G6PD GAA GALE GALK1 GALM GALNS GALT GATA1 GATA2 GBA1 GBE1 GCDH GCLC GEMIN4 GFM1 GIMAP5 GLB1 GLIS3 GLRX5 GNA11 GNB2 GNE GNMT GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GRIP1 GSN GTF2H5 GUCY2D GUSB GYPC HADHA HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DRB1 HMGCL HMGCS2 HMOX1 HNF1A HNF4A HPGD HSD17B4 HSD3B7 HYMAI HYOU1 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IGF2 IKBKG IKZF3 IL10 IL12A IL12A-AS1 IL12RB1 IL18BP IL1RN IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 INSR IRAK1 IRF2BP2 IRF4 IRF5 IRF8 ITCH ITK JAK1 JAK2 JAK3 JAM2 JAM3 JMJD1C KCNH1 KCNJ11 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KIF12 KIF1B KIF20A KIF3B KIT KLF1 KLRC4 KPTN KRAS KRT18 LACC1 LAMA5 LARS1 LARS2 LAT LBR LCAT LCK LIG4 LIPA LIPE LMBRD1 LMNA LPIN2 LPL LRBA LRP5 LSM11 LTBP3 LTBP4 LYRM4 LYST LYZ LZTR1 MADD MAGT1 MAN2B1 MAPK8IP3 MARS1 MCM4 MCOLN1 MDFIC MECOM MED12 MEFV MEG3 MET MFN2 MICU1 MIF MKS1 MMAA MMAB MMEL1 MMUT MOGS MPC1 MPI MPIG6B MPL MPV17 MRAS MRPL3 MRPS22 MRPS28 MRPS7 MS4A1 MST1 MT-ATP6 MT-ATP8 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTO1 MTTP MTX2 MVK MYBPC3 MYD88 MYL2 MYO5B MYORG MYPN NAB2 NAE1 NAGA NAGLU NAGS NBEAL2 NCF1 NCF2 NCF4 NCKAP1L NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEU1 NFKB1 NFKB2 NFKBIA NGLY1 NHLRC2 NHP2 NIPBL NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NR1H4 NRAS NSD2 NUBPL OAS1 OCLN OSTM1 OTC OTUD5 PALB2 PALLD PARN PC PCCA PCCB PCK1 PDGFB PDGFRA PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGM1 PHKA2 PHKB PHKG2 PHYH PIBF1 PIEZO1 PIGA PIGL PIGM PIGS PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKD2 PKHD1 PKLR PLAGL1 PLEKHM1 PLVAP PMM2 PNP PNPLA2 POLD1 POLG POLG2 POU2AF1 PPARG PPP1R21 PRF1 PRG4 PRKAG2 PRKAR1A PRKCD PRKCSH PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PTPRC PTRH2 PUS7 PYGL RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RASA2 RASGRP1 RBCK1 RBM8A RBPJ REL RFT1 RFX6 RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RORC RPGRIP1L RRAS RRAS2 RREB1 RTEL1 RTL1 RUNX1 SAA1 SAMD9L SAMHD1 SASH3 SAT1 SBDS SC5D SCARB2 SCN4A SCO1 SCO2 SCYL1 SDHD SEC23B SEC24C SEC63 SEMA4D SEMA7A SERPINA1 SF3B1 SGSH SH2B3 SH2D1A SKIC2 SKIC3 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC40A1 SLC4A1 SLC7A7 SLCO2A1 SMAD3 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SOX18 SP110 SPIB SPP1 SPRED2 SPTA1 SPTB SPTBN1 SRP54 SRSF2 STAT1 STAT3 STAT4 STAT6 STEAP3 STX11 STXBP2 SUCLG1 SUMF1 SURF1 SYK TALDO1 TAPT1 TBX1 TBXAS1 TCF3 TCF4 TCIRG1 TCN2 TERC TERT TET2 TFAM TFAP2A TFE3 TGFB1 THPO THSD1 TIMMDC1 TINF2 TKFC TKT TLR4 TLR8 TMEM126B TMEM165 TMEM67 TMEM70 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TNFSF15 TNNI3 TNNT2 TNPO3 TOGARAM1 TOM1 TP53 TPI1 TPP2 TRAC TRAPPC11 TREX1 TRIM37 TRIP13 TRMU TRNT1 TRPV6 TSC1 TSC2 TSFM TTC26 TUFM TULP3 TYMS UBAC2 UBR1 UCP2 UFD1 UMPS UNC13D UQCRB UROD UROS USB1 USP18 USP53 VIPAS39 VPS11 VPS13A VPS33A VPS33B VPS45 VPS4A WDR1 WDR19 WDR35 WRAP53 WT1 XIAP XK XPR1 XRCC4 XYLT1 YARS1 YARS2 YME1L1 ZAP70 ZFYVE19 ZIC3 ZNF699 ZNFX1 HP_ABNORMAL_ACETABULUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACETABULUM_MORPHOLOGY AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 ARSB ARSK B3GALT6 BGN CANT1 CCN6 CENPJ CEP120 CHD4 CHRNG COG1 COL10A1 COL1A1 COL1A2 COL25A1 COL2A1 COMP CRTAP CSGALNACT1 CSPP1 DYM DYNC2H1 DYNC2I1 DYNLT2B EIF4A3 ERCC1 ERGIC1 EVC EVC2 EXTL3 FBN1 FGFR2 FGFR3 FIG4 FKBP10 FLNB GATA1 GLB1 GNPTAB GPX4 GUSB HOXA11 HSPG2 HYAL1 IFIH1 IFT52 INPPL1 KIAA0586 LAMA5 LYSET MATN3 MMP2 MYO18B NANS NRCAM PAM16 PLOD1 POLR1A PTH1R RAB23 RAB33B RINT1 RNU4ATAC RPS15A SCYL2 SERPINF1 SLC26A2 SLC35A3 SLC35D1 SMAD3 SMARCAL1 TBX4 TGFB2 TGFBR2 TIMM22 TMEM67 TONSL TRIP11 TRPV4 UFSP2 VPS33A WDR19 WDR35 XYLT1 HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN AARS2 ACAD9 AFG3L2 AGK AIFM1 ATP5F1A ATP5F1D ATP5F1E ATPAF2 BCS1L BOLA3 C1QBP CARS2 CDK5 CHCHD10 COA3 COA5 COA6 COA8 COX16 COX20 COX4I1 COX5A COX6A2 CRLS1 CYC1 DGUOK EARS2 ELAC2 FBXL4 FDX2 FLAD1 FOXRED1 GATC GFER GFM1 GFM2 GTPBP3 HACD1 IBA57 ISCA2 ISCU KARS1 LRPPRC LYRM7 MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS22 MRPS23 MRPS25 MT-ND1 MT-ND2 MT-ND3 MT-TE MT-TL1 MTFMT MTO1 MTRFR NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFS1 NFU1 NSUN3 NUBPL PET100 PET117 POLG PTCD3 PUS1 QRSL1 RARS2 RRM2B SCN4A SCO2 SDHA SDHB SDHD SFXN4 SLC25A10 SLC25A26 SLC25A4 SLC39A8 SUCLA2 SUCLG1 TIMM22 TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT5 TRMU TSFM TTC19 TXN2 UQCC2 UQCC3 UQCRB UQCRH UQCRQ VARS2 YARS2 HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY AARS1 ABCC6 ABCC9 ACTB ACTC1 ACTN2 ADA2 ADAMTS2 ADAMTSL2 ADAR AGPAT2 AKT1 AKT2 ALB ALG11 ALG12 ALG3 ALG8 ALG9 ALMS1 ALX1 ALX3 ANKRD1 AP2S1 APC ARMC5 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B4GALT7 BAG3 BAG5 BANF1 BLM BMPR1A BRAF BSCL2 CAP2 CARS1 CASP10 CAV1 CAVIN1 CCL2 CDC73 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHCHD10 CIDEC CLMP COL1A1 COL1A2 COL3A1 COQ6 CRYAB CSRP3 DDOST DES DMD DNASE2 DOLK DPAGT1 DSG2 DSP EMD ENPP1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 FAS FASLG FBN1 FGFR1 FH FHL1 FHL2 FKTN FLCN FLNA FOS FUCA1 FUZ G6PC3 GATAD1 GNA11 GNAS GNB2 GRM7 GTF2E2 GTF2H5 H4C5 HAND2 HAVCR2 HEPACAM IFIH1 IGF1R IKBKG INPP5K INSR JPH2 KCNJ6 KCNK9 KCTD1 KIF11 KLLN KRAS LAMA4 LCK LDB3 LEMD2 LEMD3 LIPE LMF1 LMNA LMNB2 LMOD2 LSM11 LZTR1 MAD1L1 MC4R MEFV MEN1 MFN2 MPLKIP MSTO1 MT-ND5 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MTX2 MYBPC3 MYH6 MYH7 MYPN MYSM1 NAA10 NEXN NF2 NR3C1 OTULIN PCSK1 PDE11A PDGFRB PHGDH PIK3CA PIK3R1 PLIN1 PLN PMM2 POLD1 POLR3A POMC POMP PORCN PPARG PPCS PPP1R15B PRDM16 PRIM1 PRKACA PRKAR1A PRKCD PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PSMG2 PTEN PTF1A RAF1 RASGRP1 RBM20 RBM28 RNASEH2A RNASEH2B RNASEH2C RNF113A RNU7-1 RPL10 RPL3L SAMHD1 SCN5A SDHA SDHB SDHC SDHD SEC23B SGCD SKI SLC25A24 SLC29A3 SLC2A2 SMARCB1 SOX18 SPRED1 SPRTN SYNE1 SYNE2 TAF1 TAF1A TAFAZZIN TARS1 TBL1XR1 TBXT TCAP TGFB1 TGFB3 TMEM43 TMPO TNNC1 TNNI3 TNNT2 TOP3A TP53 TPM1 TREM2 TREX1 TRMT10A TTN TWIST2 TXNRD2 TYROBP USF3 USP48 USP8 VANGL1 VANGL2 VCL VDR VEZF1 VPS4A WRN ZMPSTE24 ZSWIM6 HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR ABCA12 ABCA2 ADAT3 ADNP ADSL AFF2 AGO1 AGO2 ALDH4A1 ALDH5A1 ALG13 ALG14 AMT ANK3 AP1G1 AP1S2 APC2 ARID1A ARID1B ARID2 ARPC4 ARX ASXL3 ATG7 ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP6V0A1 ATP7B ATP9A ATRX ATXN10 AUH BCAP31 BCL11A BCOR BCORL1 BPTF BRF1 C12orf4 C12orf57 CACNA1A CACNB4 CAMK2B CAMK2G CAMTA1 CASK CASZ1 CDC42BPB CDH2 CDKL5 CEP104 CEP152 CEP290 CEP85L CHD2 CHD5 CHD7 CHD8 CHKA CHMP2B CILK1 CLCN2 CLCN3 CLCN4 CLN3 CLN5 CLTCL1 CNTNAP2 CRB1 CRBN CREBBP CTNNB1 CUL4B CUX2 CYP27A1 DCDC2 DCHS1 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DMXL2 DNM1 DNM1L DNMT3A DPAGT1 DPF2 DPYD DPYSL5 DYNC1I2 DYRK1A EBP ECM1 EEF1A2 EFHC1 EHMT1 EIF2S3 ELP2 ENTPD1 EP300 ESS2 FAT4 FBXL3 FBXW11 FGF14 FIG4 FLII FMO3 FMR1 FOXG1 FOXP1 FRMPD4 FRRS1L FTSJ1 GABBR2 GABRA1 GABRB3 GABRD GAMT GATAD2B GDAP2 GJA5 GJA8 GJB2 GLDC GLS GNAO1 GNB1 GNS GRIA1 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRM7 GRN GUCY2D H4C5 HDAC4 HDC HECTD4 HECW2 HEPHL1 HERC2 HIVEP2 HNRNPH2 HPRT1 HSD17B10 HSPG2 HTR2A HTRA1 HTT IFNG IMPA1 INPP5E IQSEC1 IQSEC2 JARID2 JRK KARS1 KAT5 KCNA1 KCNAB2 KCNQ3 KCNT1 KDM3B KDM4B KDM5B KDM5C KIF11 KIF15 KIF5C KMT2A KMT2C KMT2E KMT5B KNL1 KPTN LARP7 LEPR LINGO1 LINS1 LMAN2L LUZP1 MAB21L1 MADD MAGEL2 MAN1B1 MANBA MAOA MAPK1 MAPK10 MAPT MBD5 MECP2 MED12 MED12L MED13L MED25 METTL5 MGAT2 MKRN3 MMP23B MYT1L NAA10 NAGLU NAGS NALCN NAT8L NAXD NBEA NDE1 NDN NDP NDST1 NEUROD2 NEXMIF NFASC NFIB NFIX NIPA1 NIPA2 NIPBL NKAP NMNAT1 NONO NPAP1 NRCAM NSD1 NSD2 NSDHL NTNG2 NTRK1 OCA2 OCRL ODC1 OPHN1 PACS1 PAH PAK3 PANK2 PCDH19 PDE2A PDPN PGM2L1 PHIP PIDD1 PIGF PIGH PIGL PIGP PIGQ PIGY PLA2G6 PNKP POGZ POU4F1 PPP2CA PPP2R5D PRDM16 PRKAR1B PRKCZ PRNP PRODH PRRT2 PSEN1 PSMB1 PSMD12 PTCHD1 PUS3 PUS7 PWAR1 PWRN1 PYCR2 RAI1 RBBP8 RBL2 RERE RFX7 RHOBTB2 RLIM RNU7-1 RORB RPE65 RPL10 RPS6KA3 RTTN RUSC2 SARS1 SASS6 SATB2 SCN1A SCN1B SCN2A SETBP1 SETD1A SETD2 SH2B1 SHANK3 SHMT2 SHQ1 SIK1 SIM1 SIN3A SKI SLC1A3 SLC1A4 SLC25A13 SLC25A22 SLC2A1 SLC2A3 SLC32A1 SLC52A2 SLC6A17 SLC6A4 SLC6A8 SLITRK1 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG8 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SOX5 SPAST SPATA5 SPEN SPOP SPR SPTBN1 SQSTM1 SRCAP STEEP1 STT3A SUCLG1 SUPT16H SVBP SYN1 SYT1 TAOK1 TBC1D23 TBP TBX1 TCF20 TCF4 TDO2 TFE3 THOC2 TIMM50 TKT TMCO1 TMEM106B TMEM147 TMEM222 TMEM231 TMEM240 TMEM67 TRAPPC10 TREM2 TREX1 TRIM8 TRIO TRIP12 TSC1 TSC2 TTC19 TTC5 TTI2 TUBG1 TULP1 TYROBP UBE2A UBE3C UBE4A UBE4B UBTF UNC80 UQCC2 UROC1 USP7 USP9X VAMP2 VCP VPS13A VPS16 WAC WARS2 WASF1 WASHC4 WDR45 WDR62 ZBTB20 ZMIZ1 ZMYND11 HP_ABNORMAL_ALPHA_GRANULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ALPHA_GRANULES GATA1 GFI1B IKZF5 NBEAL2 RUNX1 HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART ACVR2B AHI1 ANKS6 ARL13B ARL2BP ARL3 ARMC9 B9D1 B9D2 BCOR CBY1 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDH2 CEP104 CEP120 CEP290 CEP41 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP53 CFAP74 CFC1 CIROP COL18A1 CPLANE1 CRELD1 CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNAL4 DRC1 DYNC2LI1 EVC EVC2 FANCB FOXJ1 GAS2L2 GAS8 GATA4 GDF1 GLI1 HES7 HYDIN HYLS1 IFT74 INPP5E INVS IRF6 KATNIP KIAA0586 KIAA0753 LMBRD1 LMNA LRRC56 LZTFL1 MCIDAS MEGF8 MKS1 MMP21 MNS1 MSX1 MYRF NECTIN1 NEK10 NEK8 NME5 NME8 NODAL NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PACS2 PAK2 PDE6D PIBF1 PIEZO2 PKD1L1 PKD2 PQBP1 PRKACA PRKACB PRRX1 ROBO1 RPGR RPGRIP1 RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 RTTN SH2B1 SLC19A2 SLC38A3 SMAD2 SPAG1 SPEF2 SRCAP STK36 SUFU TCTN1 TCTN2 TCTN3 TGDS TMEM107 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TP63 TTC12 TTC26 TTC8 TXNDC15 UBR1 WT1 ZIC3 ZMPSTE24 ZMYND10 ZNF423 HP_ABNORMAL_ANKLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANKLE_MORPHOLOGY ACTA1 ADGRV1 ALAD ANGPT2 ANKRD55 ANO5 APC2 ATP5F1D C18orf32 C19orf12 CAPN3 CARS1 CD247 CHMP1A CLCN5 COL10A1 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 CYP27B1 CYP2R1 DAG1 DDR2 DNMT3A DPM1 DYRK1A ERGIC1 ERLIN2 ESCO2 EXT1 EXT2 FIG4 FKBP10 FLNA FLT4 GABRD GABRG2 GJC2 HACD1 HCN1 HNRNPH1 IDH1 IL2RA IL2RB ITGA7 KLHL9 LGI4 LIFR MAFB MAN2B1 MAP3K20 MMP2 MYL2 NEB NFATC2 NONO NSD1 NT5C2 ORAI1 PI4KA PIEZO1 PNPT1 PSAT1 PTPN2 PTPN22 RAB3GAP2 REEP1 RPL10 RTTN RYR1 SCN1A SCN1B SCN2A SCN9A SCYL2 SELENON SETD2 SGCA SLC1A4 SLC34A3 SPG11 SPTBN4 STAT4 STX1B SVIL SYT2 TNNT1 TOR1AIP1 TPM2 TPM3 UBA1 VARS1 VDR HP_ABNORMAL_ANKLE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANKLE_PHYSIOLOGY AARS1 ABCD1 ADGRG1 ANO10 ATL1 ATP6AP2 CAPN1 CARS1 CCDC88C CD40LG COL6A1 COL6A2 COL6A3 COMP CYP27A1 CYP7B1 ERLIN2 FA2H FGF13 FLNA GALC GBA2 GFM2 GLI3 HTT KIF1A KIF1C KIF5A KLC2 KPNA3 LMNA MAP3K7 MARS1 MFN2 NDUFS8 NIPA1 OCA2 PEX16 PI4KA PIGT PLA2G6 POU3F4 PSAP PYCR2 RAB18 REEP1 RTN2 SAMD9L SELENOI SLC16A2 SLC1A4 SLC39A14 SLC52A3 SMG9 SOD1 SPART SPAST SPG11 SPTBN2 STUB1 SYNE1 TCEAL1 TIMM8A UBE3A UCHL1 VAC14 VCP ZFYVE27 ZMPSTE24 HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY ADAMTS10 ADAMTS17 ANKRD55 ANTXR1 ASPH ATOH7 B3GLCT CD247 CHRDL1 CHST14 COL18A1 COL8A2 COLEC10 COLEC11 CYP1B1 EFEMP1 ELMO2 FBN1 FOXC1 FOXE3 FZD4 GRHL2 HMX1 IL2RA IL2RB JAG1 LARGE1 LCA5 LOXL1 LRAT LRP5 LTBP2 MASP1 MIR204 MITF MYOC NDP OVOL2 PAX6 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3R1 PITX2 PTPN2 PTPN22 PXDN RAB18 RPE65 SPATA7 SRCAP STAT4 TSPAN12 VSX1 ZEB1 HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY AAAS AARS1 AASS ABCA1 ABCA12 ABCA2 ABCA4 ABCB6 ABCD1 ABCG8 ABHD12 ABHD5 ACADS ACTA2 ACTB ACTG1 ADA2 ADAMTS10 ADAMTS17 ADAMTS18 ADAMTSL1 ADAMTSL4 ADAR ADGRV1 ADNP AEBP1 AFF4 AGA AGBL1 AGBL5 AGK AHI1 AHR AIPL1 AIRE AKT1 ALDH18A1 ALDH3A2 ALDH6A1 ALDOB ALG2 ALG3 ALG8 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 AMACR AMER1 AMMECR1 ANAPC1 ANK1 ANKRD11 ANKRD55 ANO1 ANO10 ANTXR1 AP1B1 AP1S1 AP3B1 AP3D1 APC APC2 APOA1 APOA2 APOB APOE ARCN1 ARHGAP31 ARHGEF18 ARHGEF2 ARID1B ARL13B ARL2 ARL2BP ARL3 ARL6 ARL6IP6 ARMC9 ARPC4 ARSB ARSG ARSL ARVCF ASAH1 ASH1L ASPH ATAD3A ATOH7 ATP10A ATP11A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1B2 ATP7B ATP8A2 ATPAF1 ATPAF2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS2 BBS9 BCAP31 BCL7B BCOR BCS1L BDNF BEST1 BFSP1 BFSP2 BLOC1S3 BLOC1S5 BLOC1S6 BLTP1 BMP4 BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BTNL2 BTRC BUB1 BUB1B BUB3 BUD23 C12orf57 C1QBP C1QTNF5 C4A CA4 CA8 CACNA1F CAMK2B CAMSAP1 CAMTA1 CANT1 CARS1 CASK CASZ1 CAV1 CBS CBY1 CC2D2A CCDC22 CCDC28B CCDC47 CCR1 CD247 CDH11 CDH2 CDH23 CDHR1 CDON CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP57 CEP78 CERKL CERS3 CFAP410 CFAP418 CHD3 CHD4 CHD7 CHMP1A CHMP4B CHN1 CHRDL1 CHST14 CHST3 CHST6 CHSY1 CHUK CIB2 CLDN11 CLDN16 CLDN19 CLIP2 CLN3 CLPB CLRN1 CLTCL1 CNBP CNGA1 CNGA3 CNGB1 CNGB3 COG4 COL11A1 COL11A2 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMT COPB1 COQ2 COQ6 COX7B CPAMD8 CPLANE1 CPLX1 CPT2 CRB1 CREBBP CRLF1 CRPPA CRX CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CSPP1 CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNS CTSA CYP1B1 CYP27A1 CYP4V2 CYP7B1 CYSLTR2 DACT1 DAG1 DCN DCT DDB2 DDR2 DDX6 DEAF1 DGCR2 DGCR6 DGCR8 DGUOK DHCR7 DHDDS DHX38 DIS3L2 DISP1 DKC1 DLL1 DLL4 DLST DLX5 DLX6 DMPK DNAI1 DNAJC21 DNAJC30 DNM1L DNMBP DNMT1 DOCK6 DPAGT1 DPYD DPYSL5 DSE DSG4 DST DTNBP1 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 EBP EDC3 EDEM3 EDN3 EDNRB EED EFEMP1 EFEMP2 EHMT1 EIF2B2 EIF4H ELMO2 ELN ELP1 ELP4 EMC1 ENTPD1 EOGT EP300 EPCAM EPG5 EPHA2 EPHX2 EPS15L1 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 ESPN ESS2 ETFA ETFB ETFDH EXOSC2 EXOSC5 EYS FAM111A FAM111B FAM161A FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FBLN5 FBN1 FBN2 FBXL4 FBXW11 FBXW4 FBXW7 FDXR FERMT1 FGD1 FGF10 FGF3 FGF5 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP14 FKBP6 FKRP FKTN FLG FLI1 FLII FLNA FLNB FLVCR1 FOXC1 FOXC2 FOXE3 FOXH1 FOXL2 FRAS1 FSCN2 FTL FUCA1 FUT8 FYCO1 FZD4 GABRD GALK1 GALM GALNS GALNT2 GALT GAS1 GATA1 GATAD2B GBA1 GBA2 GCNT2 GDF3 GDF6 GEMIN4 GFAP GFER GHR GJA1 GJA3 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLI2 GLIS3 GLRB GMPPA GMPPB GNA11 GNAQ GNAS GNB5 GNPAT GNPTAB GNPTG GORAB GP1BB GPC3 GPR143 GRHL2 GRIA1 GSN GSR GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B GUCY2D GUSB GZF1 H1-4 H19 HARS1 HCCS HDAC4 HDAC8 HEATR3 HERC2 HEY2 HGSNAT HHAT HIRA HK1 HLA-A HLA-B HLA-DRB1 HLCS HMGB3 HMX1 HNRNPA1 HNRNPA2B1 HNRNPDL HPS1 HPS4 HPS5 HPS6 HRAS HS2ST1 HSF4 HSPA9 HSPG2 HTRA2 HYCC1 HYLS1 IARS2 IDH1 IDH3A IDH3B IDS IDUA IFIH1 IFNGR1 IFT140 IFT172 IFT74 IFT80 IFT88 IGBP1 IGF1R IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IL2RA IL2RB IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INTS1 INVS IQCB1 IQSEC2 ITM2B ITPA ITPR1 JAG1 JAM2 JAM3 JMJD1C KANSL1 KAT6A KATNIP KCNA4 KCNAB2 KCNH1 KCNJ13 KCNMA1 KCNN3 KCNV2 KCTD1 KDM5B KDM6A KDSR KERA KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF1B KIF21A KIFBP KIT KITLG KIZ KLHL7 KLLN KLRC4 KMT2B KMT2C KMT2D KRAS KRT12 KRT14 KRT25 KRT3 KRT5 KRT71 KRT74 KRT81 KRT83 KRT86 LAMA3 LAMB1 LAMB2 LAMB3 LAMC2 LARGE1 LAS1L LBR LCA5 LCAT LDHD LDLR LEMD2 LETM1 LIFR LIG3 LIG4 LIM2 LIMK1 LIPC LIPH LMBRD2 LMNA LMX1B LONP1 LOX LOXL1 LOXL3 LPAR6 LRAT LRMDA LRP2 LRP4 LRP5 LSM11 LSS LTBP1 LTBP2 LUZP1 LYST LZTR1 MAB21L1 MAB21L2 MAD2L2 MAF MAFA MAFB MAG MAGEL2 MAK MAN2B1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARK3 MASP1 MAT2A MAX MBD5 MBTPS1 MBTPS2 MC1R MCOLN1 MDH2 MECP2 MED11 MED12L MED13L MED25 MED27 MEFV MEGF8 MERTK METTL27 MFAP5 MFRP MINPP1 MIP MIPEP MIR184 MIR204 MITF MKRN3 MKS1 MLPH MLXIPL MMP1 MMP14 MMP2 MMP23B MOCS1 MOCS2 MORC2 MPDZ MPLKIP MPV17 MPZ MRPS28 MSH6 MSMO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTAP MTSS2 MTTP MVK MYH11 MYH9 MYLK MYMK MYO1H MYO5A MYO7A MYOC MYORG MYSM1 NAA10 NACC1 NAGA NAXD NCAPG2 NCF1 NDN NDP NDUFB11 NEK2 NEK9 NELFA NEU1 NEUROD2 NF1 NF2 NFIX NGLY1 NHP2 NHS NIPAL4 NIPBL NLRP1 NLRP3 NMNAT1 NOD2 NODAL NOG NOP10 NOTCH1 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NR2E3 NR2F1 NRAS NRCAM NRL NSD1 NSD2 NSUN2 NTRK1 NUP188 OAT OCA2 OCLN OCRL OFD1 OPA1 OPA3 OPN1LW OPN1MW OTUD5 OTX2 OVOL2 P3H2 P4HTM PACS2 PAH PAK2 PALB2 PANK4 PARN PAX2 PAX3 PAX6 PBX1 PCARE PCDH15 PCSK9 PCYT1A PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDGFRB PDPN PDZD7 PDZD8 PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PHF6 PHGDH PHOX2A PHOX2B PHYH PIBF1 PIEZO2 PIGG PIGL PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3R1 PIKFYVE PITX2 PITX3 PLCB3 PLCG2 PLEC PLK4 PLOD1 PLOD3 PLXND1 PMM2 PMP22 PNPLA1 PNPLA6 PNPT1 POGZ POLA1 POLG POLG2 POLH POLR1B POLR1C POLR1D POLR3A POLR3GL POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU6F2 PPP1R12A PPP1R17 PPP2CA PPP2R5D PQBP1 PRCD PRDM12 PRDM16 PRDM5 PRDX3 PRG4 PRIM1 PRKAG2 PRKAR1A PRKAR1B PRKCZ PRKG1 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRR12 PRSS56 PRUNE1 PSAT1 PSMB8 PSMC3 PTCH1 PTCH2 PTEN PTH PTH1R PTPN2 PTPN22 PUF60 PWAR1 PWRN1 PXDN PYCR1 RAB18 RAB23 RAB27A RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAI1 RALGAPA1 RAX RB1 RBM8A RBP3 RBP4 RBPJ RD3 RDH11 RDH12 RDH5 RECQL RECQL4 REEP6 RERE REST RET REV3L RFC2 RFWD3 RGR RHO RHOA RIC1 RIPK4 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNF2 RNU4ATAC RNU7-1 ROBO1 ROBO3 ROM1 ROR1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RRM2B RS1 RSPO2 RTEL1 RTN4IP1 RXYLT1 SAG SALL1 SALL2 SALL4 SAMHD1 SBF2 SC5D SCAPER SCARF2 SCN9A SCUBE3 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24C SEC31A SEM1 SEMA3E SEMA4A SERPING1 SETBP1 SETD2 SETD5 SF3B1 SF3B2 SH3PXD2B SH3TC2 SHH SHOC2 SHROOM4 SIL1 SIN3A SIPA1L3 SIX3 SIX6 SKI SLC16A12 SLC20A2 SLC24A5 SLC25A11 SLC25A13 SLC25A24 SLC25A4 SLC29A3 SLC2A1 SLC2A10 SLC33A1 SLC35C1 SLC38A8 SLC39A4 SLC39A8 SLC40A1 SLC45A2 SLC4A11 SLC4A4 SLC7A14 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMARCAL1 SMARCB1 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMO SMPX SNAI2 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX2 SPATA7 SPEN SPINT2 SPRED1 SPRTN SPTBN1 SPTLC1 SRCAP SRD5A3 SREBF1 SRY ST14 STAT4 STIM1 STS STX16 STX1A STXBP1 SUFU SULT2B1 SUMF1 SUOX TACSTD2 TAOK1 TAP1 TAP2 TAPBP TARS1 TAT TBC1D20 TBC1D24 TBC1D2B TBC1D7 TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TCEAL1 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDRD7 TEAD1 TEK TELO2 TENM3 TERC TERT TFAP2A TFE3 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM1 TGM3 THSD4 TINF2 TKFC TKT TLR4 TMEM107 TMEM127 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMTC3 TNPO2 TOGARAM1 TONSL TOPORS TP63 TRAF3IP1 TRAPPC11 TRAPPC2 TREX1 TRIM28 TRIM37 TRIM44 TRIP13 TRPM3 TRPV3 TRPV4 TSPAN12 TSR2 TTC8 TUB TUBA1A TUBA3D TUBB TUBB2B TUBB3 TUBB4B TUBG1 TUBGCP6 TULP1 TWIST1 TWIST2 TWNK TXNDC15 TYMS TYR TYRP1 UBA5 UBAC2 UBE2A UBE2T UBE3A UBE3B UBE4B UBIAD1 UFD1 UNC45B UROD UROS USB1 USF3 USH1C USH1G USH2A USP45 USP9X VAC14 VARS1 VCAN VCP VHL VIM VLDLR VPS13B VPS35L VPS37D VPS4A VSX1 VSX2 WAC WAS WASHC5 WDR19 WDR35 WDR37 WDR45 WDR73 WDR81 WFS1 WHRN WIPF1 WNT10B WNT3 WRAP53 WRN WT1 XPA XPC XPR1 XRCC2 XRCC4 XYLT2 YAP1 YY1 ZBTB20 ZBTB7A ZEB1 ZEB2 ZFHX2 ZFHX4 ZIC2 ZMIZ1 ZMPSTE24 ZNF335 ZNF408 ZNF423 ZNF469 ZNF513 ZNF526 HP_ABNORMAL_ANTIHELIX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTIHELIX_MORPHOLOGY AASS AP4E1 BICRA CREBBP EFTUD2 EVC EVC2 EYA1 FGFR2 FGFR3 FIG4 FLNA FOXG1 GLI2 KAT6A KAT6B KCTD1 LIG4 MGAT2 NR2F1 NSUN2 NUP188 PAX1 PGAP1 PIGN POR PYCR2 RAB11B RAB3GAP1 RAB3GAP2 RBM10 RECQL4 RPL10 SALL1 SCNM1 SLC16A2 STEEP1 TCF3 TOR1A TWIST1 WAC XYLT2 HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY B3GAT3 CHST3 COL2A1 FN1 KAT6A KCTD1 PGM2L1 PIGK PNPLA6 RAB3GAP2 HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY ACVR2B ALG3 ARVCF BCOR CFAP53 CHD7 CIROP COMT CREBBP CRELD1 DGCR2 DGCR6 DGCR8 DIS3L2 DLK1 DNAH1 DNAH9 EP300 ESS2 FGFR1 FLT4 FOXF1 GATA6 GBA1 GDF1 GJA1 GLI3 GNB2 GP1BB HIRA IPO8 JMJD1C KRAS MAP3K7 MCTP2 MEG3 MMP21 MYCN MYRF NKX2-5 NKX2-6 PIGN PIK3R2 PKD1L1 PLD1 PLXND1 PPP1CB PPP2R1A PTH1R PUF60 RREB1 RTL1 SEC24C SEMA3E SF3B2 SMG9 STRA6 SUCLG1 TBX1 TELO2 TMEM260 TTC26 UFD1 WDR26 WT1 ZIC3 HP_ABNORMAL_AORTIC_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_MORPHOLOGY ABCC6 ABCD4 ABCG5 ABCG8 ABL1 ACTA2 ACVR2B ADA2 ADAMTS19 ADAR ADK AEBP1 AFF4 ALDH18A1 ALDH1A2 ALG3 ALG5 ALG9 AMER1 ANGPTL6 APC2 APOB APOE ARF1 ARFGEF2 ARVCF ATN1 ATP2B1 ATP6V1A B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BCR BGN BICC1 BRAF BRCA1 BRCA2 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12orf57 CARS1 CASZ1 CDH2 CDK8 CDON CEP57 CFAP53 CHD4 CHD7 CHRNG CHST3 CIROP CLIP2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COMT COX7B CPLANE1 CREBBP CRELD1 CRKL CTCF CYP7A1 DDX3X DGCR2 DGCR6 DGCR8 DHCR7 DIS3L2 DISP1 DLK1 DLL1 DNAH1 DNAH9 DNAJB11 DNAJC30 DNMT3A DOHH DPH5 DYNC2LI1 EFEMP2 EGFR EHMT1 EIF4H ELN EMILIN1 ENG ENPP1 EP300 ERCC4 ERCC6 ERCC8 ERMARD ESS2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBN2 FGF8 FGFR1 FGFR2 FKBP14 FKBP6 FLI1 FLNA FLNB FLT4 FMR1 FOXE3 FOXF1 FOXH1 GABRD GANAB GAS1 GATA1 GATA4 GATA5 GATA6 GBA1 GDF1 GJA1 GJA5 GJA8 GLI2 GLI3 GNB2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HCCS HDAC4 HEATR3 HEY2 HGD HIRA HLA-B HLA-DRB1 HNRNPK HRAS HSPG2 IDS IFIH1 IFNG IFT140 IL12B IPO8 JAG1 JMJD1C KANSL1 KCNAB2 KCNH1 KCNQ2 KCNT1 KDM6A KMT2D KRAS LARS2 LDLR LDLRAP1 LIMK1 LMNA LOX LRPPRC LSM11 LUZP1 LZTR1 MAD2L2 MAP1B MAP2K1 MAP3K7 MAPK1 MAT2A MCTP2 MED12 MEG3 MEIS2 METTL27 MFAP5 MID1 MKS1 MLX MLXIPL MMP14 MMP2 MMP21 MMP23B MYCN MYH11 MYH3 MYH7 MYLK MYPN MYRF NAE1 NCF1 NDUFB11 NEDD4L NEK9 NF1 NIPA1 NIPA2 NKAP NKX2-5 NKX2-6 NOD2 NODAL NOTCH1 NOTCH3 NPR3 NR2F2 NRAS NSD1 NSMCE2 NXN OSGEP P4HA2 PAH PALB2 PCSK9 PDPN PGM1 PGM3 PIGA PIGN PIK3R2 PKD1 PKD1L1 PKD2 PLCB1 PLD1 PLOD1 PLXND1 PPP1CB PPP2R1A PRDM16 PRKCZ PRKG1 PTCH1 PTEN PTH1R PTPN11 PTPN22 PUF60 RAD51 RAD51C RAI1 RBM8A RERE RFC2 RFWD3 RIN2 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 ROBO4 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RTL1 SAMHD1 SCN1A SCN2A SEC24C SEMA3E SETD2 SF3B2 SHH SIX3 SKI SLC12A5 SLC25A22 SLC25A24 SLC2A10 SLC34A2 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMG9 SOS2 SPECC1L SPEN SPTBN1 SRCAP SRY STAG2 STIL STRA6 STX1A SUCLG1 SUPT16H TAB2 TALDO1 TBC1D24 TBL2 TBX1 TBX20 TBX5 TDGF1 TELO2 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TGIF1 THSD1 THSD4 TMEM260 TMEM270 TMTC3 TNNT2 TPM2 TPM3 TRAF7 TREX1 TRIP13 TRRAP TSC1 TSC2 TSR2 TTC26 TUBG1 UBE2T UBE3B UBE4B UFD1 UNC45B VPS37D WAC WDPCP WDR26 WT1 XRCC2 YY1 ZEB2 ZIC2 ZIC3 ZMPSTE24 ZNF148 HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY ABCC9 ACTA2 ACTB ADA2 ADAMTS19 AGO2 ARHGAP31 ARSK B3GALT6 B3GAT3 BAZ1B BBS2 BCAS3 BCL7B BCOR BUD23 CAPN15 CBL CCNQ CHST3 CLIP2 CREBBP DNAJC30 DOHH DPF2 EDNRA EIF4H ELN EP300 FBN1 FBN2 FDFT1 FKBP6 FLNA FOXE3 FOXF1 GATA5 GATA6 GJA5 GJA8 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HEY2 HNRNPK IFT122 KANSL1 KIF3B LIMK1 LOX LRPPRC MAP3K7 MAT2A MCTP2 METTL27 MFAP5 MLXIPL MMP14 MMP2 MYH11 MYH7 MYLK MYOCD NAA10 NADSYN1 NCF1 NFE2L2 NKX2-5 NOTCH1 NOTCH3 NXN OGT PACS1 PPM1D PPP2R5D PRKG1 PUF60 RAC1 RAI1 RFC2 ROBO4 RPL26 SGO1 SKIC2 SKIC3 SLC25A24 SMAD2 SMAD3 SMAD4 SMAD6 SMC3 SNIP1 SPTBN1 SRY STX1A TAB2 TAF2 TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMEM270 TNXB VPS37D WAC WT1 YY1AP1 ZEB2 ZNF462 HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY ABCC9 ACSL4 ACTA2 ACTB ADA2 ADAMTS19 AGO2 AMMECR1 ARHGAP31 ARSK ARVCF B3GALT6 B3GAT3 BAZ1B BBS2 BCAS3 BCL7B BCOR BRAF BRCA1 BRCA2 BRIP1 BUD23 CAPN15 CBL CCNQ CHD7 CHRNG CHST3 CLIP2 COMT CREBBP DNAJC30 DOHH DPF2 EDNRA EIF4H ELN EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FDFT1 FKBP6 FLNA FOXE3 FOXF1 GATA5 GATA6 GBA1 GJA5 GJA8 GLA GNPTAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HEY2 HGD HIRA HLA-B HNRNPK IFIH1 IFT122 IL12B JMJD1C KANSL1 KCNE5 KIF3B LIMK1 LMNA LOX LRPPRC MAD2L2 MAP2K2 MAP3K7 MAT2A MCTP2 METTL27 MFAP5 MLX MLXIPL MMP14 MMP2 MMP21 MYH11 MYH3 MYH7 MYLK MYOCD NAA10 NADSYN1 NCF1 NFE2L2 NFIX NKX2-5 NOTCH1 NOTCH3 NXN OGT PACS1 PALB2 PLCH1 PPM1D PPP2R5D PRKG1 PUF60 RAC1 RAD51 RAD51C RAI1 RFC2 RFWD3 RIGI ROBO4 RPL26 RPS6KA3 RREB1 SEC24C SEMA3E SGO1 SH2B1 SKI SKIC2 SKIC3 SLC25A24 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMC3 SNIP1 SPTBN1 SRY STX1A TAB2 TAF2 TBL2 TBX1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMEM270 TMEM70 TNXB UBE2T UFD1 VPS37D WAC WT1 XRCC2 XYLT2 YY1AP1 ZEB2 ZMPSTE24 ZNF462 HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY ABCG5 ABCG8 ACTA2 ACTB ADAMTS10 ADAMTS19 ADAMTSL2 ALDH18A1 AMER1 ANKS6 APOB ARF1 ARFGEF2 ARHGAP31 ARSK ATP6V1E1 B4GALT7 BAZ1B BCL7B BCOR BCR BUB1 BUB1B BUB3 BUD23 C12orf57 C4A CBL CCDC22 CCNQ CCR1 CEP57 CHST14 CHST3 CLIC2 CLIP2 COA6 COL1A2 CREBBP CRKL D2HGDH DNAJC30 DOCK7 DOHH DPH1 DPH2 DPYSL5 DYRK1A EBP EFEMP2 EHMT1 EIF4H ELN EP300 ERAP1 ERMARD FAS FBLN5 FBN1 FGFR1 FKBP6 FLI1 FLNA FOXE3 FOXF1 GATA4 GATA5 GBA1 GJA5 GJA8 GLB1 GNPTAB GNPTG GTF2I GTF2IRD1 GTF2IRD2 HAAO HCN4 HEATR3 HEY2 HLA-B IDUA IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R KIFBP KLRC4 KRAS LDLR LDLRAP1 LIMK1 LMNA LMOD2 LOX LTBP1 LTBP2 MAN2B1 MAP1B MAPK1 MAT2A MEFV METTL27 MFAP5 MLXIPL MYH11 MYLK NCF1 NEDD4L NEK8 NKX2-5 NKX2-6 NOTCH1 NOTCH2 NPHP3 NR2F2 ODAD1 PCGF2 PCSK9 PDSS1 PEX2 PLXND1 PRKG1 PUF60 RFC2 RIGI RMRP ROBO4 RRAS2 SCN1B SHOC2 SKIC2 SKIC3 SLC2A10 SLC35A1 SMAD2 SMAD3 SMAD4 SMAD6 SNIP1 SON SPRED2 SPTBN1 STAT4 STX1A SZT2 TAB2 TAF2 TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLR4 TMEM270 TMTC3 TRAF7 TRIP13 TTC26 TTR TWIST1 UBAC2 VPS35L VPS37D VWF WASHC5 WT1 YY1AP1 ZEB2 ZMPSTE24 HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY ADAT3 ALG5 ALG9 ALKBH8 ARID2 ATP6AP1 BICC1 CCDC22 CPLANE1 DENND5A DHCR7 DNAJB11 DNAJC19 EBP FGFR1 FGFR2 FOXC2 GANAB GPSM2 HRAS IFT140 KCNC2 KRAS NARS1 NEK1 NOTCH3 NRAS NRCAM NSD1 OFD1 OTUD5 PDGFRB PI4KA PKD1 PKD2 PLK4 PPP2R5D PUF60 PUS3 RAB3GAP2 RNU4ATAC RTTN SACS SCN1A SCN2A SH2B1 SHANK3 SLC30A9 SON STT3A TMEM231 WAC WLS XPNPEP3 ZNFX1 HP_ABNORMAL_ARM_SPAN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARM_SPAN APC2 COL9A1 COL9A2 COL9A3 DLG4 FBN1 MAF NSD1 SETD2 TGFB3 TRAPPC2 HP_ABNORMAL_ARTERIAL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY ABCC6 ACP5 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 ADAR AGXT ALMS1 ANGPTL6 APP BANK1 BAZ1B BCL7B BLK BRAF BRCC3 BUD23 C4A C4B CALR CBS CCR1 CITED2 CLCNKB CLIP2 COL1A1 COL1A2 COL3A1 COL4A1 COL5A1 COL5A2 COLGALT1 COQ2 CR2 CTLA4 CTNNB1 DNAJC30 DNASE1 EIF4H ELN ENG ENPP1 EPHB4 ERAP1 ETS1 FAS FBN1 FCGR2B FCGR3B FKBP14 FKBP6 FOXE3 GATA4 GATA6 GDF2 GLA GNB2 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 HEY2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HRAS HTRA1 IFIH1 IFNGR1 IGHG1 IKBKG IL10 IL12A IL12A-AS1 IL12B IL23R IRAK1 IRF5 ITGAM JAK2 JAZF1 KIAA0319L KLRC4 KRAS LBR LIMK1 LMNA LOX LSM11 MAT2A MECP2 MEFV METTL27 MFAP5 MLX MLXIPL MPL MYBPC3 MYH11 MYH6 MYH7 MYLK NAGA NAGS NCF1 NKX2-5 NOTCH3 NPPA NT5E P4HA2 PDCD1 PIK3C2A PIK3CA PLOD1 PLOD3 PRKG1 PRTN3 PTPN22 PXK RASA1 RFC2 RNASEH2A RNASEH2B RNASEH2C RNF125 RNF213 RNU7-1 SAMHD1 SAT1 SCN5A SCNN1A SCNN1B SCNN1G SERPINC1 SH2B3 SLC12A3 SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SON SPP1 STAT4 STING1 STX1A TBL2 TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 THSD4 TLL1 TLR4 TLR7 TMEM270 TNFAIP3 TNFSF4 TNIP1 TP53 TREX1 UBAC2 UBE2L3 VPS37D XYLT1 XYLT2 ZMPSTE24 HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY ACTA2 COL3A1 ELN EMILIN1 FBN1 FOXE3 GATA5 GNB2 HEY2 LOX MAT2A MFAP5 MYH11 MYLK NKX2-5 NOTCH1 PRKG1 ROBO4 SMAD2 SMAD3 SMAD4 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 HP_ABNORMAL_ASTROCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY ADAR AIFM1 APC APC2 BRCA2 CDKN2A CHEK2 CHMP2B ERBB2 ERCC6 ERCC8 FGFR1 GRN IDH1 IDH2 IFNG LAMA2 MAPT MDM2 MLH1 MSH3 MSH6 MT-ATP6 MTOR NF1 NF2 NSD1 NUP54 NUP62 PMS2 POLG POT1 PRNP PSEN1 SETD2 SLC30A10 SQSTM1 STRADA TMEM106B TP53 TREM2 TSC1 TSC2 VCP HP_ABNORMAL_ATRIAL_ARRANGEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIAL_ARRANGEMENT CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GDF1 HYDIN LRRC56 MCIDAS NEK10 NME5 NME8 NODAL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PKD1L1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TTC12 ZIC3 ZMYND10 HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION ABCC9 ACADVL ACTC1 ACTN2 AGXT AKAP9 BVES CACNA1C CACNA1D CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CDC45 CITED2 CTNNA3 DEF6 DES DMPK DOHH DTNA EMD FHL1 FLNC GABRA3 GATA4 GATA6 GJA5 GLA GNB2 GPD1L GPX4 GRIN1 HCN4 KCND3 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNK3 KCNQ1 LAMP2 LARS2 LMNA MMP14 MMP2 MT-ATP8 MT-CYB MT-TL1 MYBPC3 MYH6 MYL4 MYPN NKX2-5 NPPA PKP2 PRKAG2 PRKG2 PSEN1 PSEN2 PTPN11 RANGRF RNASEH1 RRM2B RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SDHA SDHAF1 SDHB SDHD SEMA3A SLC25A20 SLC4A3 SLMAP SYNE1 SYNE2 TBX20 TBX5 TLL1 TMEM43 TRDN TRPM4 TTN TTR VEZF1 HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION CCNQ CIROP GJA1 GNB2 LRPPRC MAPKAPK5 MCTP2 MMP21 NKX2-5 NODAL NOTCH1 PLD1 PLXND1 SMARCA4 TRAF7 ZIC3 HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY ABCC6 ACTC1 ADNP AEBP1 AGGF1 AGR2 ALG5 ALG9 ANK1 ARVCF ATP6V1E1 B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BGN BICC1 BRAF BRF1 BUD23 CBS CCDC22 CCNQ CHD7 CHST14 CHST3 CITED2 CLIC2 CLIP2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COMT COX7B CREBBP DCHS1 DNAJB11 DNAJC30 DPYSL5 DSE DZIP1 EIF4H ELN ENPP1 EP300 EXTL3 FBN1 FBN2 FGFR1 FIBP FKBP6 FLNA FMN2 FMR1 FOXF1 FREM1 GANAB GATA1 GATA4 GATA6 GBA1 GJA1 GNB2 GNPTAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 HCCS HCN4 HEXB HGD HIRA HNRNPH2 HRAS IDS IFIH1 IFT140 IPO8 JMJD1C JPH2 KRAS LIMK1 LMNA LRPPRC LTBP3 LZTR1 MAP3K7 MAPK1 MCTP2 MED12 METTL27 MFAP5 MLXIPL MMP14 MMP2 MMP21 MTX2 MYCN MYH6 MYH7 MYPN MYRF NCF1 NDUFB11 NF1 NKX2-5 NONO NOTCH1 NPR3 NXN PCGF2 PKD1 PKD2 PLD1 PLOD1 PLXND1 POLG PRDM5 PRG4 PTPN11 RAF1 RFC2 ROBO1 ROR2 RPL5 RPS6KA3 RREB1 RYR1 SACS SEC24C SELENON SH3PXD2B SKI SLC29A3 SLC34A2 SLC6A6 SMAD3 SMAD4 SMARCA4 SPRED1 SPRED2 STX1A TAB2 TBL2 TBX1 TBX20 TGFB2 TGFBR1 TGFBR2 TLL1 TMEM260 TMEM270 TMEM94 TNXB TPM1 TPM2 TPM3 TRAF7 TTN TWNK UFD1 VPS13B VPS35L VPS37D VWF WASHC5 XYLT1 XYLT2 YY1 ZIC3 ZMPSTE24 ZNF469 HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY ABCC6 ABCG5 ABCG8 ACTC1 ADAMTS10 ADAMTS19 ADAMTSL2 ADNP AGA AGR2 AIP AKT3 ALDH18A1 ALG9 ALPK3 ANKRD11 APOB ARL6 ARSB ATP6AP1 ATP6V1E1 ATRX B3GALT6 BAG3 BANF1 BAZ1B BCL7B BUD23 C4A CBL CCND2 CCR1 CDH2 CHST14 CHST3 CITED2 CLIC2 CLIP2 COA6 COL1A1 COL1A2 COL5A1 COL5A2 COX6B1 COX7B CRYAB CSGALNACT1 CTCF DAXX DCHS1 DLL4 DNAJC30 DNMT3A DOHH DSE DTNA DVL3 DZIP1 EIF4H ELN ERAP1 EXOSC5 FAR1 FAS FBLN5 FBN1 FBN2 FHL1 FHOD3 FKBP14 FKBP6 FLNA FLNC FNIP1 G6PC3 GATA4 GATA6 GBA1 GJA1 GLA GLB1 GNPTAB GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 HAAO HADHA HADHB HCCS HEPHL1 HEXB HLA-B IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST IRX5 KIF20A KLHL24 KLRC4 LDLR LDLRAP1 LIMK1 LMNA LMOD2 LOX LRPPRC LTBP2 LTBP3 LZTR1 MAN2B1 MAP3K7 MAPK1 MCTP2 MEFV MEGF8 METTL27 MLXIPL MTX2 MYCN MYH6 MYH7 MYL2 MYPN MYSM1 NCAPG2 NCF1 NDUFB11 NEK1 NF1 NKAP NKX2-5 NONO NOTCH1 NOTCH2 PCSK9 PDSS1 PEX2 PIK3R2 PKD1 PLD1 POLG PPP1CB PRDM16 PRG4 PRKAR1A PYROXD1 RAD21 RAF1 RFC2 RIT1 RNF2 RPL3L RPL5 RPS19 RPS6KA3 RSPRY1 SCN4A SCN5A SDHD SGO1 SKI SLC22A5 SLC25A24 SLC31A1 SMAD3 SMAD4 SMAD6 SOX5 SPEG STAT4 STX1A SYT2 TAB2 TAFAZZIN TBL2 TBX20 TGFB3 THSD1 TLL1 TLR4 TLR7 TMEM270 TNNC2 TNNI3 TNNT2 TPM1 TTC26 TWNK TXNDC15 UBAC2 UBE2A VPS33A VPS37D WDR37 XYLT1 XYLT2 ZIC3 ZMPSTE24 ZNF148 HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS ARHGEF2 CYP27A1 DIAPH3 EBP EDNRB ERCC4 ERCC6 ERCC8 GALC GJC2 HIKESHI KARS1 LMNB1 MOGS MTMR2 MYH3 NDRG1 NEFL NMNAT1 OPA1 OTOF PSAP RIPOR2 SH3TC2 SOX10 SPTBN4 TIMM8A HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY AAAS ACOX1 ADH1C AKAP9 ANK2 ARSA ASCL1 ATP1A2 ATP1A3 ATP7A ATXN2 ATXN3 ATXN8OS B2M BRAT1 CACNA1A CACNA1C CALM1 CALM2 CALM3 CAV1 CAV3 CCT5 CHCHD2 CHRNA3 CISD2 COL1A1 COL25A1 COL5A1 COL5A2 COQ2 CYB561 CYP11B2 DBH DEPDC5 DNAJC13 DNAJC6 ECE1 EIF4G1 ELP1 ERBB3 FBXO7 FMR1 GABBR2 GBA1 GBE1 GFAP GIGYF2 GLA GLUD2 GMPPA GNB2 GSN HEXB HTRA2 IL12A IL12RB1 IL6ST IRF5 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 KIF1B LEP LEPR LGI1 LIFR LMNB1 LRRK2 MAPT MECP2 MMEL1 MT-TT NOS1AP NR4A2 NTRK1 PARK7 PHOX2B PINK1 PLA2G6 PODXL POLR3A POU2AF1 PPOX PRKN PRNP PSAP RELN RET RFC1 SCN10A SCN11A SCN3A SCN4B SCN5A SCN9A SIM1 SLC18A2 SLC1A3 SLC6A2 SNCA SNCAIP SNTA1 SOX10 SPG11 SPIB SYNE1 SYNJ1 TBP TBX5 TNFSF15 TNPO3 TRDN TSPYL1 TTR TUBB3 TXN2 UCHL1 VPS11 VPS13A VPS13C VPS35 WDR45 WFS1 ZFHX4 HP_ABNORMAL_BASAL_GANGLIA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MORPHOLOGY ACVR1 ADAR ADH1C AGO1 AIFM1 ALG2 AP1S2 ASNS ASPA ATP13A2 ATR ATXN2 ATXN3 ATXN8OS AUH BSCL2 C19orf12 CA2 CAMSAP1 CASR CLPB CNTNAP1 COASY COQ8A COX15 CP CPT2 CSPP1 CYB5A CYB5R3 CYP27A1 CYP2U1 DCX DENND5A DLAT DNAJC19 DNM1L EIF2AK2 ERCC3 ERCC4 ERCC6 ERCC8 ETHE1 EXOSC2 FA2H FAM111A FARS2 FASTKD2 FBXO7 FDXR FOXP2 FTL GATA3 GBA1 GCDH GCH1 GFAP GFM1 GJA1 GLB1 GLI3 GLUD2 GNA11 GNAS GSX2 GTPBP2 GTPBP3 HIBCH HSD17B10 HTRA1 HTT IDH1 IFIH1 IMPDH2 ISG15 JAM2 JPH3 KCNQ2 KIAA0586 KMT2B LONP1 LRPPRC LRRK2 LSM11 MAPT MECR MFF MICU1 MMUT MRM2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MYORG NADK2 NANS NDE1 NDUFAF5 NDUFAF6 NDUFS1 NDUFS4 NEK1 NR4A2 NUDT2 NUP54 NUP62 OPA1 OPHN1 PANK2 PDE10A PDE8B PDGFB PDGFRB PDHA1 PDHX PDSS2 PLA2G6 PNPT1 POLR2A POLR3A PRKN PRNP PSMB8 PSMG2 RAB39B RANBP2 RFT1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCO2 SLC19A3 SLC20A2 SLC25A46 SLC2A3 SLC30A10 SLC44A1 SLC46A1 SNCA SNCAIP SNORD118 SPG11 SUCLA2 SUCLG1 SYT1 TACO1 TBCE TBCK TBP TIMM8A TK2 TREM2 TREX1 TUBA1A TUBB TUBB2B TUBB3 TYROBP VPS11 VPS13A VPS16 VPS41 VRK1 WDR45 XPR1 ZEB2 HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY ALG2 ASPA COQ8A ETHE1 FASTKD2 GCDH GFAP GLB1 GLI3 GTPBP3 LRPPRC MECR MFF MICU1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NADK2 NDUFS1 NDUFS4 PDE10A PDSS2 PRNP SLC30A10 SPG11 SUCLG1 TACO1 VPS11 HP_ABNORMAL_BASOPHIL_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_COUNT ASXL1 BACH2 KIT SRSF2 TET2 HP_ABNORMAL_BASOPHIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_MORPHOLOGY ABL1 ASXL1 BACH2 BCR KIT RUNX1 SRSF2 TET2 HP_ABNORMAL_BEST_CORRECTED_VISUAL_ACUITY_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BEST_CORRECTED_VISUAL_ACUITY_TEST C1QTNF5 COL25A1 KIF21A PHOX2A TUBA1A TUBB2B TUBB3 HP_ABNORMAL_BLEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLEEDING ABCC6 ABCG8 ACAD9 ACP5 ACTA1 ACTA2 ACTN1 ACVRL1 ADA2 ADAMTS2 ADAMTSL2 AEBP1 AGGF1 AIP AKT1 ALDOB ALG13 ALPL AMACR AMN ANGPTL6 ANKRD26 ANO6 AP3B1 APC APOE APP ARF1 ARFGEF2 ARHGAP31 ARL6IP6 ARMC5 ARPC1B ARVCF ASXL1 ATOH7 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATP8B1 ATRX B3GALT6 B4GALT1 BAP1 BCOR BEST1 BGN BICD2 BLOC1S3 BLOC1S5 BMPR1A BMS1 BRAF BRCC3 C1R C1S C2 C4A CACNA1D CALR CAPN5 CASP10 CAT CBL CBS CCM2 CCR1 CD109 CD19 CD36 CD46 CD81 CDC42BPB CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CEBPE CFH CFHR1 CFHR3 CFI CHST14 CISD2 CLCN2 CLCN7 CLPB COG6 COG8 COL1A1 COL1A2 COL3A1 COL4A1 COL4A2 COL5A1 COL5A2 COMT COPA CPT2 CR2 CREB3L1 CST3 CTC1 CTCF CTLA4 CTNNB1 CUBN CYP11B1 CYP11B2 CYP26C1 CYP7B1 CYSLTR2 DAXX DCLRE1B DHPS DIAPH1 DLL4 DLST DNM2 DNMT3A DOCK6 DOCK8 DPAGT1 DPP9 DSE DST DTNBP1 DZIP1L EFEMP1 EIF2AK4 ELMO2 ELN EMILIN1 ENG ENPP1 EOGT EPAS1 EPCAM EPHB2 EPHB4 EPOR ERAP1 ERCC6 ERCC8 ERMARD ETHE1 ETV6 EXT2 F10 F11 F12 F13A1 F13B F2 F5 F7 F8 F9 FAH FAN1 FANCA FANCC FANCD2 FANCE FAS FASLG FBN1 FCGR2C FERMT3 FGA FGB FGG FH FIP1L1 FKBP10 FKBP14 FLI1 FLNA FN1 FOXE3 FUCA1 FYB1 FZD4 G6PC1 GAA GATA1 GATA2 GBA1 GCDH GDF2 GFI1B GGCX GIMAP5 GNA11 GNA14 GNAQ GNAS GP1BA GP1BB GP6 GP9 GREM1 GSN HADHB HBA1 HBA2 HCK HELLPAR HEY2 HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMCN1 HMOX1 HOXA11 HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HSD3B7 ICOS IFIH1 IFNG IFNGR1 IKBKG IKZF1 IKZF5 IL10 IL10RA IL12A IL12A-AS1 IL18BP IL23R IPO8 IRF2BP2 IRF4 ITGA2 ITGA2B ITGB3 ITGB4 IVD JAK2 JAM2 JMJD1C KANSL1 KCNJ5 KIF1B KIF23 KIT KLKB1 KLRC4 KRAS KRIT1 KRT1 LAMB2 LBR LCP2 LMAN1 LMBRD1 LMNA LMOD2 LMX1B LOX LRP5 LYST LZTR1 MAP1B MAP2K1 MAP2K2 MAPK1 MARS2 MAT2A MAX MCFD2 MDH2 MED12 MEFV MEN1 MFAP5 MGAT2 MLH1 MLH3 MMACHC MMUT MPI MPL MRAS MS4A1 MSH2 MSH6 MTAP MTTP MVK MYC MYD88 MYH11 MYH9 MYLK MYORG MYRF NABP1 NAGA NBEAL2 NDE1 NDP NEDD4L NEU1 NF1 NF2 NFIA NFIX NFKB1 NFKB2 NLRC4 NLRP3 NOTCH1 NOTCH3 NPM1 NR3C1 NRAS NTRK1 NUMA1 OCLN ORAI1 P2RY12 P4HA2 PCCA PCCB PDCD10 PDE11A PDGFB PDGFRA PDGFRB PEPD PET100 PEX12 PIK3CA PKHD1 PLAU PLEC PLOD1 PLOD3 PLVAP PML PMM2 PMS1 PMS2 POT1 PRDM5 PRF1 PRKACA PRKACG PRKAR1A PRKCD PRKCSH PRKG1 PRLR PROC PROS1 PRTN3 PTEN PTPN11 PTPN22 PUF60 PYCR1 RAB27A RACGAP1 RAF1 RANBP2 RARA RASA1 RASA2 RASGRP1 RASGRP2 RB1 RBCK1 RBM10 RBM8A RBPJ RET RFT1 RHBDF2 RIN2 RIT1 RNF168 RPS14 RPS20 RRAS RRAS2 RREB1 RS1 RUNX1 RYR1 SAMD9 SBDS SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC63 SEMA4A SERPINE1 SERPINF2 SF3B1 SH2B3 SIK3 SIN3A SLC20A2 SLC25A11 SLC25A13 SLC2A10 SLC35A1 SLC37A4 SLC39A13 SLC51A SLC7A7 SLCO2A1 SLFN14 SMAD2 SMAD3 SMAD4 SMARCB1 SMARCE1 SMC5 SMO SMPD1 SNORD118 SNX10 SOS1 SOS2 SP110 SPARC SPRED2 SRC SREBF1 SRSF2 STAT2 STAT3 STAT4 STAT5B STIM1 STK11 STN1 STT3A STX11 STXBP1 STXBP2 SUFU TAOK1 TBL1XR1 TBX1 TBXA2R TCIRG1 TEK TERC TERT TET2 TFR2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 THSD4 TLR4 TMEM127 TMEM237 TMTC3 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNXB TP53 TRAF7 TREX1 TSC1 TSC2 TSPAN12 TTC7A UBA2 UBAC2 UFD1 UNC13D UROD UROS USP18 USP48 USP8 VHL VKORC1 VPS33B VWF WAS WFS1 WIPF1 XPR1 XYLT1 XYLT2 ZBTB16 ZEB2 ZMPSTE24 ZNF408 ZNF469 ZNFX1 HP_ABNORMAL_BLISTERING_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLISTERING_OF_THE_SKIN ANAPC1 AQP5 ASXL1 BLM BRAF C4A CAST CASZ1 CBL CCR1 CD151 CDSN CLCN7 CLTRN COL17A1 COL2A1 COL7A1 CPOX CSTA CTC1 CYP26C1 DKC1 DSC3 DSG1 DSG3 DSP DST ECM1 ERAP1 EXPH5 FAS FBXO28 FERMT1 FOXP3 GABRD GATA1 GJA1 GJB3 GJB4 HLA-B HLA-DQB1 HLA-DRB1 HSPG2 IFNGR1 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R ITGA3 ITGA6 ITGB4 JUP KCNAB2 KDSR KIT KLHL24 KLRC4 KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT9 LAMA3 LAMB3 LAMC2 LUZP1 MEFV MMP1 MMP23B NAXD NHP2 NOP10 NPM1 PARN PDPN PKP1 PLEC PPOX PRDM16 PRKCZ RECQL4 RERE RTEL1 RUNX1 SKI SLC39A4 SLC6A19 SMARCAD1 SNX10 SPEN SRSF2 STAT4 TCIRG1 TERC TERT TET2 TGM5 TINF2 TLR4 TNFSF11 TYMS UBAC2 UBE4B UROD UROS USB1 WRAP53 HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL ACTA1 CACNA1S HACD1 ITGA7 LRP12 MAP3K20 MYL2 NDUFS8 PHOX2B RYR1 SELENON STAC3 TPM2 TPM3 HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION BSND CLCNKA CLCNKB CUL3 KCNJ1 KLHL3 MAGED2 SLC12A1 SLC26A3 WNK1 WNK4 HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION CUBN DHFR FTCD HLA-DQA1 HLA-DQB1 OTUD5 SLC46A1 TCN2 ZNF699 HP_ABNORMAL_BLOOD_GAS_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GAS_LEVEL ABCA3 ACTA1 BTNL2 CACNA1S CD40LG CNOT1 CSF2RA CSF2RB EIF2AK4 ENG FBN1 FGFR3 GATA6 HACD1 HBB HLA-DRB1 ITGA7 LONP1 LRP12 MAP3K20 MARS1 MYL2 NDUFS8 NKX2-1 PHOX2B PTRH2 RHAG RHCE RHD RYR1 SELENON SFTPB SFTPC SLC34A2 SLC35A1 SMPD1 STAC3 TPM2 TPM3 ZFPM2 HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION ABCC8 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACSF3 ACSL5 AFF4 AGL AKT2 ALDH7A1 ALDOB ALG12 APC2 APPL1 ARMC5 ASXL2 ATIC ATP5F1D ATP7A AUH BBS9 BCKDHA BCKDHB BCS1L BLK BMP6 CA5A CACNA1C CACNA1S CAMKMT CDKN1C CDON CEL CIC CLPB COG7 COG8 COX10 COX11 COX16 CPT1A CPT2 CTDP1 CYB561 CYC1 CYP11A1 CYP21A2 DBH DBT DGUOK DIS3L2 DLD DMXL2 DNAJC19 DOLK DYRK1B EBP EHHADH EIF2S3 ENPP1 ETFA ETFB ETFDH FAH FARSB FBP1 FGF20 FOXA2 FOXRED1 FUT8 G6PC1 GABRA3 GALK1 GALT GATA6 GATB GATC GATM GCDH GCK GFM2 GFRA1 GH1 GHR GHSR GJA1 GK GLI2 GLI3 GLUD1 GLYCTK GPC3 GPC4 GPR161 GRB10 GREB1L GYS2 H19 HADH HADHA HADHB HERC1 HESX1 HFE HMGA2 HMGCL HMGCS2 HNF1A HNF4A HRAS HSD17B10 HSD3B2 HTRA2 HYMAI HYOU1 IARS1 IARS2 IGF1 IGF2 IL6 INS INSR ITGA8 ITPR3 KCNE3 KCNJ11 KCNJ18 KCNQ1 KCNQ1OT1 KDM6A KHK KLF11 LHX3 LHX4 LMNA LRPPRC MADD MC2R MCCC1 MCCC2 MEN1 MICOS13 MLYCD MMACHC MMUT MPC1 MPV17 MRAP MRPS2 MRPS28 MRPS7 MSL3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MTO1 MTOR NAB2 NARS2 NBAS NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD1 NFKB2 NFS1 NNT NR1H4 NR3C1 NSD1 NUBPL ODC1 OTC OTX2 PAK1 PAX4 PC PCCA PCCB PCK1 PCK2 PCSK1 PDX1 PET100 PGM1 PHKA1 PHKA2 PHKB PHKG2 PIK3R1 PLAG1 PLAGL1 PLPBP PNPO POGZ POMC POR POU1F1 PPARG PPM1B PPP1R15B PPP2R5D PREPL PRKAG2 PROKR2 PROP1 PRORP PTEN PTF1A PTPN22 PYGL QRSL1 RET RFX6 RIMS2 RNF125 ROBO1 SAMD9 SCN4A SCO1 SECISBP2 SERAC1 SETD2 SGPL1 SH2B1 SHPK SLC16A1 SLC1A1 SLC22A5 SLC25A20 SLC25A36 SLC2A2 SLC34A1 SLC37A4 SLC3A1 SLC52A1 SLC5A2 SNIP1 SOX3 STAR STAT3 STAT6 SUCLG1 TANGO2 TBX19 TFAM TFE3 TFG TIMMDC1 TMEM126B TRMT10A TRPM3 TXNRD2 UCP2 UQCC3 UQCRB UQCRC2 UQCRH WARS2 WDR11 WNT9B YARS1 YY1 ZFP57 ZMPSTE24 HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION ACADVL ADAMTS3 ADCY10 ALDOB ALG12 ALPL AP1S3 AP2S1 APC2 ARVCF ATP1A1 BAZ1B BCL7B BSND BTK BTNL2 BUD23 CA2 CACNA1C CACNA1S CAMKMT CASR CAV1 CCBE1 CCDC134 CCND1 CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CHD7 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CNNM2 COMT CSF1R CTNS CYP24A1 CYP27B1 CYP2R1 CYP3A4 DBH DGCR2 DGCR6 DGCR8 DLST DMP1 DNAJC30 DNMT3A EGF EIF4H ELN ENPP1 EPAS1 ESS2 FAM111A FARSB FAT4 FGF23 FH FKBP6 FOCAD FOXP3 FXYD2 GABRA3 GALNT3 GATA3 GCM2 GEMIN4 GNA11 GNAS GNAS-AS1 GNB2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HADHA HADHB HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 IFT122 IL36RN JMJD1C KCNJ1 KCNJ10 KCNJ18 KIF1B KL LDHA LIMK1 LPIN1 MAX MDH2 MEN1 METTL27 MLXIPL MT-CO1 MT-CO3 NCF1 NF1 NOTCH3 NSD1 OBSCN ORAI1 OSTM1 PCBD1 PDGFB PDGFRB PHEX PIGT PIK3C2A PLEKHM1 PLVAP POLRMT PPM1B PREPL PTH PTH1R RET RFC2 RFX7 RMRP RRAGD RREB1 RYR1 SARS2 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SETD2 SLC12A1 SLC12A3 SLC20A2 SLC25A11 SLC30A10 SLC34A1 SLC34A2 SLC34A3 SLC39A14 SLC39A8 SLC3A1 SLC4A1 SLC5A1 SNX10 STX16 STX1A TBCE TBL2 TBX1 TCIRG1 TIAM1 TMEM127 TMEM270 TNFRSF11A TNFSF11 TRIO TRPM6 UBR1 UFD1 USP53 VDR VHL VPS37D HP_ABNORMAL_BLOOD_ION_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ION_CONCENTRATION ABCB6 ABCC6 ABCD3 ACADVL ADAMTS3 ADCY10 AIP AKAP9 ALAD ALAS2 ALDOA ALDOB ALG12 ALG8 ALPL ANK2 AP1B1 AP1S1 AP1S3 AP2S1 APC2 AQP2 ARNT2 ARVCF ATIC ATP1A1 ATP6AP1 ATP6V0A2 ATP6V0A4 ATP7A ATP7B AVPR2 BAZ1B BCL7B BCS1L BMP2 BMP6 BMPR1A BSND BTK BTNL2 BUD23 CA12 CA2 CA5A CACNA1C CACNA1D CACNA1S CALM1 CALM2 CALM3 CAMKMT CARD9 CASR CAV1 CAV3 CCBE1 CCDC134 CCND1 CDC73 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHD7 CLCN2 CLCN5 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CNNM2 COG2 COL3A1 COL4A3 COL7A1 COMT CP CPOX CSF1R CTNNB1 CTNS CUL3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP24A1 CYP27B1 CYP2R1 CYP3A4 DBH DEF6 DGCR2 DGCR6 DGCR8 DLST DMP1 DNAJC30 DNMT3A DSG1 DZIP1L EGF EHHADH EIF2AK3 EIF4H ELN ELP1 ENPP1 EPAS1 ESS2 FAH FAM111A FAM20C FARSB FAT4 FGF23 FGFR1 FH FKBP6 FOCAD FOXP1 FOXP3 FTH1 FTL FXYD2 GABRA3 GALNT3 GATA3 GATM GCM2 GEMIN4 GNA11 GNAS GNAS-AS1 GNB2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HADHA HADHB HAMP HBB HFE HIRA HJV HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HNF4A HRAS HSD11B2 HSD3B2 IARS1 IFT122 IL36RN INPPL1 INSR INVS IRF4 JMJD1C KCNE1 KCNE2 KCNE3 KCNH2 KCNJ1 KCNJ10 KCNJ18 KCNJ2 KCNJ5 KCNN4 KCNQ1 KIF1B KIF23 KL KLHL3 KRAS LAMA3 LAMB3 LAMC2 LDHA LIMK1 LPIN1 LYST MAGED2 MAX MC2R MDH2 MEN1 METTL27 MLXIPL MMP1 MRAP MT-CO1 MT-CO3 NAB2 NCF1 NDUFAF6 NDUFB8 NF1 NFKB2 NHERF1 NNT NOS1AP NOTCH3 NR0B1 NR3C1 NR3C2 NRAS NSD1 NUP214 OBSCN OCRL ORAI1 OSTM1 PAX2 PBX1 PCBD1 PDGFB PDGFRB PHEX PIEZO1 PIGA PIGT PIK3C2A PKD2 PKHD1 PKLR PLEKHM1 PLVAP POLG2 POLRMT POR PPM1B PPOX PREPL PRF1 PRKAR1A PTH PTH1R RACGAP1 RET RFC2 RFX7 RMRP RRAGD RREB1 RYR1 SAMD9 SARS2 SCN10A SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SCO2 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SERPINA6 SETD2 SKIC2 SKIC3 SLC11A2 SLC12A1 SLC12A3 SLC20A2 SLC25A11 SLC25A38 SLC26A3 SLC2A1 SLC2A2 SLC30A10 SLC30A2 SLC30A9 SLC31A1 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC39A14 SLC39A4 SLC39A8 SLC3A1 SLC40A1 SLC4A1 SLC4A2 SLC4A4 SLC5A1 SLC7A7 SMAD4 SNTA1 SNX10 SPATA5 STAR STAT6 STEAP3 STX16 STX1A SYK TBCE TBK1 TBL2 TBX1 TBX19 TBX5 TCIRG1 TDP2 TERT TFR2 TIAM1 TICAM1 TLR3 TMEM127 TMEM270 TMPRSS6 TNFRSF11A TNFRSF11B TNFSF11 TP53 TRAF3 TRDN TRIO TRNT1 TRPM6 TSFM TXNRD2 UBR1 UFD1 UNC45A UNC93B1 USP53 USP8 VDR VHL VPS37D WNK1 WNK4 ZNRF3 HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION ABCB6 AIP AKAP9 ALAD ALDOA ALG12 ALG8 ANK2 AP1S3 AQP2 ARNT2 ATIC ATP1A1 ATP6V0A4 AVPR2 BMPR1A BSND CA12 CA5A CACNA1C CACNA1D CACNA1S CALM1 CALM2 CALM3 CASR CAV3 CDH23 CDKN2A CLCN2 CLCNKA CLCNKB CLDN10 COL3A1 CPOX CTNNB1 CTNS CUL3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 DEF6 DSG1 DZIP1L EHHADH EIF2AK3 ELP1 FGFR1 FOCAD FXYD2 GABRA3 GATM GEMIN4 HMBS HSD11B2 HSD3B2 IL36RN INSR INVS IRF4 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ1 KCNJ10 KCNJ18 KCNJ2 KCNJ5 KCNN4 KCNQ1 KLHL3 LPIN1 LYST MAGED2 MC2R MRAP MT-CO1 MT-CO3 NDUFAF6 NDUFB8 NFKB2 NNT NOS1AP NR0B1 NR3C1 NR3C2 NUP214 OBSCN OCRL PAX2 PBX1 PIEZO1 PKD2 PKHD1 PLVAP POLG2 POR PPOX PRF1 PRKAR1A RRAGD RYR1 SAMD9 SARS2 SCN10A SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SERPINA6 SETD2 SLC12A1 SLC12A3 SLC26A3 SLC2A1 SLC2A2 SLC30A9 SLC34A1 SLC4A1 SLC4A2 SLC4A4 SLC5A1 SMAD4 SNTA1 STAR SYK TBK1 TBX19 TBX5 TDP2 TERT TICAM1 TLR3 TP53 TRAF3 TRDN TSFM TXNRD2 UNC45A UNC93B1 USP8 WNK1 WNK4 ZNRF3 HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION ABCC6 ALDOB ALPL AP2S1 CACNA1S CASR CCDC134 CDC73 CLCN5 CLCN7 COL4A3 CTNS CYP27B1 CYP2R1 CYP3A4 DMP1 EHHADH ENPP1 FAH FAM111A FAM20C FGF23 GABRA3 GALNT3 GATM GCM2 GNA11 GNAS GNAS-AS1 HNF4A HRAS INPPL1 KCNJ18 KL KRAS LPIN1 MEN1 MT-CO1 MT-CO3 NAB2 NDUFAF6 NHERF1 NRAS OBSCN OCRL PHEX POLRMT PRKAR1A PTH PTH1R RYR1 SAMD9 SLC2A2 SLC34A1 SLC34A2 SLC34A3 SNX10 STAT6 STX16 TBCE TCIRG1 TNFRSF11B TNFSF11 VDR HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION ABCB6 AIP AKAP9 ALDOA ANK2 ATP1A1 ATP6V0A4 BMPR1A BSND CA12 CACNA1C CACNA1D CACNA1S CALM1 CALM2 CALM3 CASR CAV3 CDH23 CDKN2A CLCN2 CLCNKA CLCNKB CLDN10 COL3A1 CTNNB1 CTNS CUL3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 DEF6 EHHADH FXYD2 GABRA3 GATM GEMIN4 HSD11B2 HSD3B2 INSR INVS KCNE1 KCNE2 KCNE3 KCNH2 KCNJ1 KCNJ10 KCNJ18 KCNJ2 KCNJ5 KCNN4 KCNQ1 KLHL3 LPIN1 MAGED2 MC2R MRAP MT-CO1 MT-CO3 NDUFAF6 NFKB2 NNT NOS1AP NR3C1 NR3C2 NUP214 OBSCN OCRL PAX2 PBX1 PIEZO1 PKD2 POLG2 POR PRKAR1A RRAGD RYR1 SAMD9 SCN10A SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SERPINA6 SLC12A1 SLC12A3 SLC26A3 SLC2A1 SLC2A2 SLC30A9 SLC34A1 SLC4A1 SLC4A2 SLC4A4 SMAD4 SNTA1 STAR TBX19 TBX5 TERT TP53 TRDN TXNRD2 UNC45A USP8 WNK1 WNK4 ZNRF3 HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION ALAD ALG12 ALG8 AP1S3 AQP2 ARNT2 ATIC AVPR2 BSND CA12 CA5A CLCNKA CLCNKB CPOX CTNS CYP11A1 CYP11B2 DSG1 DZIP1L EIF2AK3 ELP1 FGFR1 FOCAD GEMIN4 HMBS HSD3B2 IL36RN IRF4 LYST MAGED2 MC2R MRAP NDUFB8 NFKB2 NNT NR0B1 NR3C2 NUP214 OCRL PAX2 PBX1 PKHD1 PLVAP POR PPOX PRF1 RRAGD SAMD9 SARS2 SCN4A SCNN1A SCNN1B SCNN1G SETD2 SLC26A3 SLC5A1 STAR SYK TBK1 TBX19 TDP2 TICAM1 TLR3 TRAF3 TSFM TXNRD2 UNC93B1 HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION ABCD3 ALAS2 AP1B1 AP1S1 ATP6AP1 ATP6V0A2 ATP7A ATP7B BCS1L BMP2 BMP6 CARD9 COG2 COL7A1 CP FOXP1 FTH1 FTL HAMP HBB HFE HJV IARS1 KIF23 MMP1 PIGA PKLR RACGAP1 SCO2 SKIC2 SKIC3 SLC11A2 SLC25A38 SLC30A10 SLC30A2 SLC31A1 SLC33A1 SLC39A4 SLC39A8 SLC40A1 SLC7A7 SPATA5 STEAP3 TFR2 TMPRSS6 TRNT1 HP_ABNORMAL_BLOOD_UREA_NITROGEN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_UREA_NITROGEN_CONCENTRATION ADAMTS13 ATP5F1B AVPR2 C3 CD46 CFB CFH CFHR1 CFHR3 CFI CTNS DBH ELP1 ERCC4 ERCC6 ERCC8 FAN1 MRPS7 PIGA SARS2 SLC22A12 SLC2A9 THBD HP_ABNORMAL_BLOOD_VESSEL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_VESSEL_MORPHOLOGY AASS ABCA1 ABCC6 ABCC9 ABCD4 ABCG5 ABCG8 ABL1 ACP5 ACSL4 ACTA2 ACTB ACVR2B ACVRL1 ADA2 ADAMTS10 ADAMTS19 ADAMTS3 ADAMTSL1 ADAR ADAT3 ADH5 ADK AEBP1 AFF4 AGGF1 AGO2 AGPAT2 AGXT AKT1 ALB ALDH18A1 ALDH1A2 ALG12 ALG3 ALG5 ALG8 ALG9 ALMS1 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC7 ANGPT2 ANGPTL6 ANK1 ANKS6 ANTXR1 APC2 APOA1 APOA2 APOA5 APOB APOE APP ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL6IP6 ARPC1B ARSL ARVCF ARX ASAH1 ASCC1 ASXL2 ATN1 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A B3GALT6 B3GAT3 B3GLCT BANF1 BAP1 BAZ1B BCL11B BCL7B BCOR BCR BEST1 BGN BICC1 BICRA BMP2 BMPR1A BMPR2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRF1 BRIP1 BSCL2 BUB1 BUB1B BUB3 BUD23 C12orf57 C1QB C1R C1S C2CD3 C4A CACNA1C CADM3 CALM3 CARS1 CASP10 CASZ1 CAT CAV1 CAVIN1 CBL CBS CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCM2 CCNO CCNQ CCR1 CD19 CD244 CD81 CD96 CDC42 CDC42BPB CDH2 CDK8 CDON CELA2A CEP120 CEP19 CEP57 CETP CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CFI CHD4 CHD7 CHRM3 CHRNG CHST3 CHUK CIITA CIROP CITED2 CLCN7 CLCNKB CLIP2 CNTN1 COA6 COG4 COG6 COL18A1 COL1A1 COL1A2 COL3A1 COL4A1 COL5A1 COL5A2 COMT COQ4 COX7B CPLANE1 CR2 CRB2 CREBBP CRELD1 CRKL CRTAP CSF2RA CSF2RB CSGALNACT1 CTCF CTLA4 CTSA CTU2 CUX1 CWC27 CXCR2 CXCR4 CYP1B1 CYP27A1 CYP7A1 DACT1 DARS1 DCDC2 DDX11 DDX3X DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLL4 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC30 DNAL1 DNASE1L3 DNMT3A DOCK6 DOCK8 DOHH DPF2 DPH5 DPM1 DPYSL5 DRC1 DTNA DVL3 DYNC2LI1 DYRK1A DYRK1B ECE1 EED EFEMP1 EFEMP2 EGFR EHMT1 EIF2AK3 EIF2AK4 EIF4H ELN EMILIN1 ENG ENPP1 EOGT EP300 EPHB4 EPHX2 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 ESR1 ESS2 EXT1 EXT2 EZH2 F12 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN1 FBN2 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FIBP FIG4 FKBP14 FKBP6 FKTN FLI1 FLNA FLNB FLT4 FMR1 FOCAD FOS FOXC1 FOXC2 FOXE3 FOXF1 FOXH1 FOXJ1 FOXP2 FRA10AC1 FTO FUCA1 FUT8 FZD4 G6PC3 GAA GABRD GALC GALNT3 GANAB GAS1 GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GBA1 GDF1 GDF2 GEMIN4 GGCX GHR GJA1 GJA5 GJA8 GJC2 GLB1 GLI2 GLI3 GLMN GLYCTK GM2A GMPPB GNA11 GNAQ GNB2 GNPAT GP1BB GPC3 GPC4 GPC6 GPIHBP1 GPR35 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 GUSB HACD1 HCCS HCK HDAC4 HEATR3 HES7 HEXA HEXB HEY2 HGD HIBCH HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNRNPK HOXA1 HPGD HRAS HSPG2 HTRA1 HTRA2 HYDIN HYMAI HYOU1 ICOS IDH1 IDS IFIH1 IFNG IFNGR1 IFT140 IFT27 IFT43 IGBP1 IGF2 IGFBP7 IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL23R IL6 IL6ST INTU IPO8 IRF2BP2 ITPR1 JAG1 JAK2 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNN3 KCNQ2 KCNT1 KDM3B KDM6A KDR KIF5A KLRC4 KMT2A KMT2B KMT2D KNSTRN KRAS KRIT1 KYNU LARS2 LCAT LDLR LDLRAP1 LEMD2 LFNG LIFR LIMK1 LIPA LIPC LMBRD1 LMNA LMX1B LOX LPL LRP5 LRP6 LRPPRC LRRC56 LSM11 LTBP1 LTBP4 LUZP1 LZTR1 MAD2L2 MAF MAP1B MAP2K1 MAP3K7 MAPK1 MAPKAPK5 MASP1 MAT2A MAX MCIDAS MCTP2 MED11 MED12 MED13L MED25 MEF2A MEFV MEG3 MEGF8 MEIS2 MESP2 METTL27 MFAP5 MGAT2 MGP MID1 MKKS MKS1 MLX MLXIPL MMP14 MMP2 MMP21 MMP23B MNX1 MPL MRAS MRPS16 MS4A1 MST1 MSX2 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MVK MYCN MYD88 MYH11 MYH3 MYH7 MYLK MYOC MYOCD MYPN MYRF NAA10 NAA20 NADSYN1 NAE1 NCAPG2 NCF1 NDE1 NDP NDUFB11 NEDD4L NEK1 NEK10 NEK8 NEK9 NEU1 NF1 NFIA NFIX NFKB1 NFKB2 NFKBIL1 NIPA1 NIPA2 NKAP NKX2-5 NKX2-6 NLRP3 NME5 NME8 NOD2 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPC1 NPC2 NPHP3 NPPA NPR3 NR2F2 NRAS NSD1 NSMCE2 NT5E NXN OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OSGEP OTUD5 OTULIN P4HA2 PACS1 PAH PAK2 PALB2 PAM16 PBX1 PCGF2 PCNT PCSK9 PDCD10 PDE11A PDGFB PDGFRB PDPN PEX1 PEX12 PEX19 PGM1 PGM3 PHGDH PIEZO1 PIGA PIGL PIGN PIGO PIGT PIK3CA PIK3CD PIK3CG PIK3R1 PIK3R2 PKD1 PKD1L1 PKD2 PKP2 PLAGL1 PLCB1 PLCB3 PLCH1 PLD1 PLOD1 PLOD3 PLXND1 PNP PNPLA2 POGZ POLA1 POLR1A POLR1B POLR1C POLR1D POLR3A POLR3F PORCN POU3F4 PPARG PPFIBP1 PPP1CB PPP1R15B PPP1R17 PPP2R1A PQBP1 PRDM13 PRDM16 PRDM6 PRIM1 PRKACB PRKAR1A PRKCD PRKCSH PRKCZ PRKG1 PROC PROS1 PRPF3 PRTN3 PSAP PSMD12 PTCH1 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PUF60 PYCR1 QRICH1 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RASA1 RASA2 RASGRP1 RBM10 RBM8A RBP4 RBPJ RERE RET RFC2 RFWD3 RIN2 RIPPLY2 RIT1 RNASEH2A RNASEH2B RNASEH2C RNF213 RNU4ATAC RNU7-1 ROBO1 ROBO4 ROR2 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTL1 SALL1 SALL4 SAMD9 SAMHD1 SC5D SCN10A SCN11A SCN1A SCN2A SCN9A SDHB SDHD SEC24C SEC61A1 SEC63 SELENOI SEMA3E SEMA4D SERPIND1 SETD2 SF3B2 SF3B4 SFTPB SH2D1A SH3PXD2B SHANK3 SHH SIK3 SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A3 SLC12A5 SLC20A2 SLC22A4 SLC25A22 SLC25A24 SLC29A3 SLC2A10 SLC34A2 SLC35A2 SLC37A4 SLC39A13 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMOC1 SMPD1 SNRPB SNRPN SNX10 SNX14 SON SOS1 SOS2 SOX10 SOX11 SOX2 SOX4 SPAG1 SPECC1L SPEF2 SPEN SPRED2 SPTBN1 SRCAP SRY SSR4 STAG2 STAT1 STAT3 STAT4 STIL STK36 STRA6 STX1A STXBP1 SUCLG1 SUFU SUPT16H SYK TAB2 TALDO1 TAOK1 TBC1D24 TBL2 TBX1 TBX2 TBX20 TBX4 TBX5 TCF4 TCIRG1 TCOF1 TDGF1 TEK TELO2 TFAP2B TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TGIF1 THOC6 THPO THSD1 THSD4 TKT TLL1 TLR4 TMCO1 TMEM127 TMEM231 TMEM260 TMEM270 TMEM67 TMEM94 TMTC3 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNNT2 TNXB TOM1 TONSL TP63 TPM2 TPM3 TRAF7 TRAIP TREX1 TRIO TRIP11 TRIP13 TRIP4 TRPV6 TRRAP TSC1 TSC2 TSFM TSR2 TTC12 TTC26 TUBG1 TULP1 TWIST1 UBA1 UBAC2 UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UMPS UNC45B UQCRFS1 USP18 USP9X VAC14 VEGFC VHL VPS33A VPS35L VPS37D WAC WAS WASHC5 WDPCP WDR19 WDR26 WDR35 WDR37 WIPF1 WLS WNT4 WRN WT1 XIAP XRCC2 XYLT1 XYLT2 YME1L1 YY1 YY1AP1 ZBTB7A ZEB2 ZFPM2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF462 ZNF687 ZNF699 HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION COL7A1 IARS1 MMP1 SLC30A2 SLC39A4 SLC39A8 SLC7A7 HP_ABNORMAL_BONE_STRUCTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BONE_STRUCTURE AARS1 ABCC6 ABCC9 ACP5 ACVR1 ADAMTS10 ADAMTS2 ADAMTSL2 ADCY10 AEBP1 AFF3 AGA AGK AGPAT2 AGPS AGXT AIFM1 AIP AKR1D1 AKT1 ALB ALDH18A1 ALG12 ALG3 ALG9 ALPL ALX4 AMER1 ANAPC1 ANKH ANKLE2 ANO5 ANOS1 ANTXR1 ANTXR2 AP1S2 AP2S1 APC ARL6IP6 ARMC5 ARSL ASAH1 ASPM ASXL1 ASXL2 ATL3 ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP7A ATP7B ATP8B1 ATRX AVP B2M B3GALT6 B3GAT3 B4GALT7 BAAT BANF1 BAZ1B BCL7B BGN BMP1 BMP15 BMP2 BMP6 BMPER BMPR1B BMS1 BNC1 BRAF BRCA1 BRCA2 BRIP1 BSCL2 BTNL2 BUB1 BUB1B BUB3 BUD23 CA2 CALCR CANT1 CARS1 CASR CAV1 CAVIN1 CBFB CBL CBS CCDC134 CCDC141 CCN2 CCN6 CCND1 CCR6 CD96 CDC73 CDH23 CDK5RAP2 CDK6 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEACAM3 CEACAM6 CENPE CENPJ CEP135 CEP152 CEP164 CEP290 CEP57 CEP63 CFTR CHD7 CHEK2 CHRNG CHST3 CIT CLCA4 CLCN5 CLCN7 CLIP2 CLPB COG1 COL10A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL7A1 COL9A3 COMP COPB2 COX4I2 CPLX1 CREB3L1 CRIPT CRTAP CSF1R CSPP1 CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNND2 CTNS CTSC CTSK CYB5A CYP11A1 CYP17A1 CYP19A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 DCAF17 DCC DCHS1 DCTN4 DDOST DDR2 DDRGK1 DHCR24 DHCR7 DHX37 DKC1 DKK1 DLK1 DLL4 DLX3 DMP1 DMRT3 DNAJC21 DNAJC30 DPAGT1 DPM2 DUOX2 DUOXA2 DUSP6 DVL1 DYM DYNC2H1 DYNC2I1 DYNC2I2 EBP EDNRA EED EFL1 EHHADH EIF2AK3 EIF4H ELANE ELMO2 ELN ELP1 ENPP1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ESR1 ESR2 EXOC6B EXT1 EXT2 EXTL3 FAH FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBLN5 FBN1 FBN2 FERMT3 FEZF1 FGF17 FGF23 FGF8 FGFR1 FGFR2 FGFRL1 FIG4 FKBP10 FKBP14 FKBP6 FLNA FLNB FLRT3 FN1 FOS FOXA2 FSHR FUT8 FZD4 G6PC1 GALNS GALNT3 GALT GATA1 GATA4 GATM GBA1 GCLC GCM2 GDF5 GEMIN4 GET4 GFI1 GGCX GJA1 GJB2 GJB6 GK GLA GLB1 GLE1 GLI2 GLI3 GLIS3 GNA11 GNAS GNPAT GNPTAB GNRH1 GNRHR GORAB GPAA1 GPC3 GPC4 GPR35 GPX4 GSC GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB HAMP HBB HBG1 HBG2 HDAC6 HECW2 HERC2 HESX1 HFE HGD HGSNAT HHAT HJV HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA2 HMOX1 HNF4A HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPK HOXA13 HPGD HRAS HS6ST1 HSD17B4 HSD3B7 HSPG2 HTRA1 IARS2 IDH1 IDH2 IER3IP1 IFIH1 IFITM5 IFT122 IFT140 IFT43 IFT52 IFT80 IGF1 IHH IKBKG IL12A IL12RB1 IL17RD IL1RN IL6ST INPPL1 INTU INVS IQCB1 IRF5 IRX5 ITGB4 IYD KARS1 KCNH1 KCNJ1 KCNJ8 KCNN4 KDELR2 KIAA0586 KIF14 KIF1A KIF22 KIF7 KISS1 KISS1R KIT KL KLF1 KLLN KNL1 KNSTRN KRAS LAMA3 LAMA5 LAMB3 LAMC2 LARS2 LBR LEMD2 LEMD3 LETM1 LFNG LHX3 LHX4 LIFR LIMK1 LMNA LMX1B LONP1 LPIN2 LRP4 LRP5 LRP6 LRRK1 LTBP4 MAD2L2 MAFB MAGEL2 MALT1 MAN2B1 MAP2K1 MAP3K1 MAP3K7 MATN3 MBTPS1 MBTPS2 MC4R MCM7 MCPH1 MDM4 MED12 MEG3 MEN1 METTL27 METTL5 MFSD2A MGAT2 MGP MIA3 MIF MIR140 MITF MKRN3 MLXIPL MMEL1 MMP1 MMP13 MMP14 MMP2 MPL MPLKIP MRPS22 MSH4 MST1 MTAP MTRR MTTP MTX2 NAA20 NAB2 NAE1 NAF1 NAGA NAGLU NANS NCAPD3 NCF1 NDN NDNF NDP NDUFAF1 NDUFAF6 NELFA NEU1 NF1 NFATC2 NFIX NFKBIA NGLY1 NHERF1 NHLH2 NHP2 NKX3-2 NLRP3 NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NPR2 NR0B1 NR3C1 NR5A1 NRAS NSD2 NSDHL NSMF NT5E NUP107 NUP37 OCA2 OCRL OFD1 ORC1 ORC6 OSTM1 OTX2 P3H1 P4HB PALB2 PAM16 PAPPA2 PARN PCCA PCCB PDE11A PDE4D PDGFRB PDLIM4 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHC1 PHEX PHF21A PHKA2 PHKB PHKG2 PIGG PIGL PIGT PIGU PIGV PIGY PIK3CA PIK3CD PISD PLCB3 PLEC PLEKHM1 PLOD1 PLOD2 PLOD3 PMM2 POC1A POF1B POLD1 POLE POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3H POLRMT PORCN POU1F1 POU2AF1 PPARG PPIB PPP3CA PRDM5 PRG4 PRKACA PRKAR1A PRKG2 PRLR PROK2 PROKR2 PROP1 PSAP PSMC3IP PTCH1 PTDSS1 PTEN PTH1R PWAR1 PWRN1 PYCR1 PYCR2 PYGL RAB3GAP1 RAD51 RAD51C RB1 RBL2 RECQL4 RETREG1 RFC2 RFWD3 RIGI RIN2 RMRP RNF113A RNF125 RNU4ATAC RNU7-1 RPL10 RPL11 RRM2B RSPO2 RSPRY1 RTEL1 RTL1 RUNX1 RUNX2 SALL4 SAMD9 SARS1 SASS6 SATB2 SBDS SC5D SCARB2 SCN4A SCN9A SDCCAG8 SDHB SDHC SDHD SEC23A SEC23B SEC24D SEMA3A SEMA3E SEMA4D SEMA5A SERPINA1 SERPINH1 SETBP1 SETD2 SFRP4 SGMS2 SGSH SH3BP2 SH3PXD2B SIK3 SIM1 SKI SLC10A1 SLC10A7 SLC11A1 SLC12A1 SLC17A5 SLC25A19 SLC25A24 SLC25A4 SLC26A2 SLC26A9 SLC29A3 SLC2A2 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC35B2 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC39A8 SLC4A1 SLC4A2 SLC5A5 SLC6A14 SLC7A7 SLC9A3 SLCO2A1 SLX4 SMAD3 SMARCAL1 SMARCD2 SMPD1 SMS SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SOST SOX10 SOX3 SOX9 SP7 SPARC SPIB SPIDR SPRTN SPRY4 SQSTM1 SRC SRCAP SRP19 SRP54 SRSF2 SRY STAT1 STAT3 STAT6 STIL STN1 STX16 STX1A STX3 SYK TAC3 TACR3 TAF1 TAF13 TAPT1 TARS1 TBCE TBCK TBL2 TBXAS1 TCF12 TCF4 TCIRG1 TCOF1 TENT5A TERC TERT TET2 TG TGFB1 TGFBR2 THPO THRB TINF2 TJP2 TMEM165 TMEM270 TMEM38B TMEM53 TMEM67 TNFRSF11A TNFRSF11B TNFSF11 TNFSF15 TNNC2 TNPO3 TOM1 TONSL TP53 TPO TRAF3IP1 TRAPPC10 TRAPPC14 TRAPPC2 TREM2 TRIM37 TRIP11 TRIP13 TRMT10A TRPS1 TRPV3 TRPV4 TRPV6 TSHB TSHR TSPAN12 TTC26 TWNK TXNDC15 TYMS TYROBP UBA2 UBE2T UFSP2 UNC45A UNC80 UROD UROS USB1 USF3 USP48 USP8 USP9X VAC14 VAMP7 VCP VDR VPS35L VPS37D VPS53 WARS1 WDR11 WDR19 WDR35 WDR62 WNK1 WNT1 WNT3 WNT3A WNT7A WRAP53 WRN WT1 WWOX XRCC2 XYLT1 XYLT2 ZBTB20 ZFPM2 ZMPSTE24 ZNF408 ZNF469 ZNF668 ZNF699 ZSWIM7 HP_ABNORMAL_BOWEL_SOUNDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWEL_SOUNDS ATRX CAV1 CCN2 CCR6 DAXX HLA-DRB1 IRF5 POLG SDHD SLC5A1 TYMP HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY AVIL DAAM2 DGKE EMP2 KIRREL1 NOS1AP SGPL1 SLC41A1 YRDC ZAP70 HP_ABNORMAL_BRAINSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MORPHOLOGY ABCD1 ADCY5 ADGRG1 AGTPBP1 AHCY AHI1 AIFM1 AKT1 ALG3 AMPD2 ANGPTL6 APC2 ARHGEF2 ARL3 ASNS ASXL1 ATP1A3 ATP6V0A1 ATXN1 ATXN2 ATXN8OS B3GALNT2 B4GAT1 BAP1 BLTP1 BRF1 CACNA1A CACNA1G CASK CCDC88C CCM2 CDC40 CDON CEP290 CEP55 CERS1 CHD2 CHMP1A CIT CLCN3 CLP1 CLTC COASY COG5 COG8 COL3A1 CRPPA CSPP1 CTNNA2 CUX2 CYP27A1 DAG1 DCC DEGS1 DISP1 DKK1 DLL1 DNAJC19 DNAJC3 DNM1 DNM1L DNMT1 DOCK7 DPM1 DYNC1H1 DYNC1I2 DYRK1A ECHS1 ELOVL5 EN1 ENG EPG5 ETHE1 EXOC2 EXOC7 EXOSC1 EXOSC3 EXOSC8 EXOSC9 FA2H FARS2 FGF8 FGFR1 FGFR3 FH FKRP FKTN FLI1 FLVCR2 FMR1 FOXH1 FOXRED1 GABRB3 GALC GAS1 GET4 GFAP GFM2 GLI2 GMPPB GNAO1 GPHN GTPBP3 IDH1 INPP5E KIAA0586 KIF1A KIFBP KPNA3 KRIT1 LAMA1 LAMA2 LAMB1 LARGE1 LMNB1 LYRM7 MAB21L1 MACF1 MAPK10 MARS2 MAST1 MDH1 MED17 MED23 MFSD2A MINPP1 MT-ND1 MT-ND2 MT-ND3 MTRFR MTRR MYH3 MYMK NAGA NDE1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NF2 NFIX NODAL NPHP1 NSRP1 NUBPL OPA1 PAFAH1B1 PCLO PDCD10 PDGFB PDHB PDHX PI4KA PIEZO2 PIGA PIGS PIK3CA PLCH1 PLK4 PMM2 PMPCB PNKP POGZ POMGNT1 POMK POMT1 POMT2 PPIL1 PPP1R15B PPP2CA PPP2R1A PRDM13 PRDX3 PTCH1 PTEN PYCR2 RAB11B RAC1 RANBP2 RARS2 RELN RERE RNASEH1 ROBO1 ROBO3 RORA RPGRIP1L RTTN SACS SCN1A SEPSECS SETD2 SETX SHH SIX3 SLC19A3 SLC25A46 SLC35A2 SLC5A6 SMARCA2 SMARCB1 SMARCE1 SMC1A SMO SMPD4 SNX14 SPTAN1 STAG2 STIL STUB1 SUFU SYNE1 TBC1D23 TBCD TBP TDGF1 TERT TGFBR3 TGIF1 THSD1 TIMMDC1 TMEM126B TMEM216 TMEM237 TMEM67 TMTC3 TMX2 TNFRSF11A TOE1 TRAF7 TRAPPC12 TRAPPC6B TRMT10A TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TWNK UBE2A USP9X VLDLR VPS4A VPS51 VRK1 WARS2 WDR73 WNT1 ZIC1 ZIC2 ZNHIT3 HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY AIFM1 CCM2 ETHE1 FOXRED1 GTPBP3 KRIT1 LAMA2 MT-ND1 MT-ND2 MT-ND3 MTRFR NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL PDCD10 PIK3CA RANBP2 SLC19A3 TIMMDC1 TMEM126B HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY ABCD1 AHI1 ARL3 CEP290 CLCN3 CSPP1 CYP27A1 FLI1 INPP5E KIAA0586 LAMA1 LMNB1 NPHP1 SACS TMEM216 TMEM67 HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS CNP CYP27A1 GALC GRM7 IBA57 NAXE NDUFAF6 NGLY1 PSAP HP_ABNORMAL_BRAIN_FDG_POSITRON_EMISSION_TOMOGRAPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_FDG_POSITRON_EMISSION_TOMOGRAPHY AKT1 APOE BAP1 CHMP2B COQ2 GRN MAPT NF2 PDGFB PIK3CA PSEN1 PSEN2 SMARCB1 SMARCE1 SMO SQSTM1 SUFU TERT TMEM106B TRAF7 TRANK1 TREM2 VCP HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS COG8 COX11 COX16 CYP27A1 DNM1L ECHS1 FARS2 GFM2 HPDL HSD17B10 HTRA2 KARS1 LYRM4 LYRM7 MECR MRPS34 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTRFR NDUFAF6 NDUFB7 POLRMT SDHB SLC39A8 SQOR SUCLG1 VARS2 HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS ASPA ATAD3A CACNA1G CNP FARS2 FBXO28 FOCAD GALC GFM2 GRM7 NAT8L NDUFB7 NGLY1 PSAP SDHAF1 SDHD SLC25A12 SLC35A2 TBCK HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH ACVR2B CFAP53 CHD7 CIROP CREBBP CRELD1 DGCR2 DGCR6 DGCR8 DNAH1 DNAH9 EP300 ESS2 FLT4 GBA1 GDF1 IPO8 MMP21 NKX2-6 PIK3R2 PKD1L1 PLD1 PLXND1 SF3B2 STRA6 TBX1 TELO2 TMEM260 TTC26 WDR26 WT1 HP_ABNORMAL_BREATH_SOUND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BREATH_SOUND ABCA3 AGR2 AGRN AGTPBP1 ATP11A ATP8B1 BTK CACNA1C CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFTR CHAT COL13A1 COQ2 CRLF1 CSF2RA CSF2RB CTSK D2HGDH DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DPP9 DRC1 DSP DST EXOSC3 EXOSC8 EXOSC9 FAM13A FCGR3A FLNA FOXJ1 GAS2L2 GAS8 GBA1 GNB1 GNPTAB GTPBP3 HLA-DQA1 HLA-DQB1 HLA-DRB1 HYDIN IGHMBP2 JAG1 KIF22 LAMA3 LAMB3 LAMC2 LRRC56 LYRM4 MAP3K7 MCIDAS MID1 MIR140 MUC5B MYO9A NEK10 NFASC NFIX NKX2-1 NME5 NME8 NOS1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PARN PAX8 PLP1 PRIM1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RYR1 SCARF2 SCN4A SCNN1A SCNN1B SCNN1G SCO2 SERPINA1 SERPING1 SFTPA1 SFTPA2 SFTPC SLC18A2 SLC18A3 SLC25A1 SLC25A46 SLC52A3 SLC5A7 SNAP25 SOX9 SPAG1 SPEF2 STK36 STN1 SYT2 TERC TERT TRPV4 TSPYL1 TTC12 VAMP1 VPS33A VRK1 ZMYND10 HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY ABCA3 BTNL2 COPA CSF2RA CSF2RB HLA-DRB1 MARS1 MUC5B NKX2-1 OAS1 SFTPA1 SFTPA2 SFTPB SFTPC SLC7A7 TERT HP_ABNORMAL_BRONCHUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_MORPHOLOGY ABCA3 AGR2 ALDH18A1 ARHGEF1 ARL2BP ARSL ATM ATP11A B2M BACH2 BLM BLNK BTK BTNL2 C1QB CARD10 CARD11 CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CD81 CD8A CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP74 CFTR CLCA4 CR2 CTLA4 CXCR4 DCTN4 DDRGK1 DIAPH1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNMT3B DOCK8 DPP9 DRC1 DSP EDNRA EGFR EHMT1 ELN EMILIN1 ERF FAM13A FBLN5 FCGR2A FCHO1 FGFR1 FGFR2 FLNB FNIP1 FOXJ1 GAS2L2 GAS8 GCLC GMNN GNPTAB GSTM3 HFE HLA-DRB1 HMOX1 HRAS HYDIN ICOS IDS IGHG2 IGHM IGKC IGLL1 IL10RB IL17RA IL21R IL2RG IL6ST IRF2BP2 IRF8 IRF9 KAT6A KCNN4 KRT14 KRT5 LAT LRBA LRRC56 LRRC8A LTBP4 MAGT1 MALT1 MCIDAS MGP MIF MPEG1 MS4A1 MUC5B MYH11 MYRF NBN NCKAP1L NDUFA6 NEK10 NFKB1 NFKB2 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORC4 ORC6 PAK2 PARN PGM3 PI4KA PIK3CD PIK3R1 POLA1 POLE POR PRKCD PTEN RAC1 RAC2 RASGRP1 RFX7 RIN2 RIPK1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SASH3 SCNN1A SCNN1B SCNN1G SCUBE3 SERPINA1 SFTPA1 SFTPA2 SFTPC SLC11A1 SLC26A2 SLC26A9 SLC29A3 SLC34A2 SLC39A7 SLC41A1 SLC6A14 SLC9A3 SLF2 SMARCA2 SOX9 SPAG1 SPEF2 SPI1 STAT1 STK36 STK4 STN1 STX1A STX3 SYK TAFAZZIN TAP1 TAP2 TAPBP TCF3 TERC TERT TET2 TGFB1 TNFRSF13B TNFRSF13C TNFRSF9 TNFSF12 TOM1 TP73 TPP2 TTC12 TTC26 UNC119 USP26 WDR1 ZMYND10 ZNF341 ZNF699 HP_ABNORMAL_BRONCHUS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY AARS1 ACAN ALOX5 ATRX CARS1 CCL11 DAXX ERCC2 ERCC3 GALNS GTF2E2 GTF2H5 HLA-G HNMT IFNGR1 IL13 MPLKIP MUC7 PLA2G7 PTGER2 RNF113A SCGB3A2 SDHD TARS1 TBX21 TNF TSPYL1 HP_ABNORMAL_B_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_MORPHOLOGY ADA ALG12 ARHGEF1 ATM ATP11A B2M BACH2 BTK CARD11 CARD9 CASP10 CD19 CD3D CD3E CD3G CD79A CD79B CD81 CDCA7 CTNNBL1 CTPS1 DCLRE1B DCLRE1C DOCK8 ELF4 FAS FASLG FCHO1 FNIP1 GATA2 GFI1 HELLS HYOU1 ICOS IGHM IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL21 IL2RA IL2RG IL6R IRAK4 IRF2BP2 IVNS1ABP JAK3 KNSTRN LCP2 LRBA MCM10 MS4A1 MYD88 MYSM1 NBN NCKAP1L NFKB2 NFKBIA NHEJ1 PIK3CD PIK3R1 PLCG2 POMP PRIM1 PRKCD PRKDC PTEN PTPRC RAC2 RAG1 RAG2 RASGRP1 REL RIPK1 SASH3 SH2D1A SLC39A7 SOCS1 SP110 SPI1 STAT1 SYK TBX2 TCF3 TET2 TLR8 TNFRSF9 TOM1 TRNT1 UNC119 WDR1 XIAP ZAP70 ZBTB24 HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION ARHGEF1 BACH2 CD19 CTNNBL1 CTPS1 ELF4 FNIP1 HYOU1 ICOS IKBKB IL21 IL6R IRF2BP2 LCP2 LRBA PIK3CD PIK3R1 PLCG2 POMP PRKCD RASGRP1 REL SOCS1 SP110 TET2 TOM1 HP_ABNORMAL_B_TYPE_NATRIURETIC_PEPTIDE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_TYPE_NATRIURETIC_PEPTIDE_CONCENTRATION BAG5 GAA HADHB RASA1 SDHD TNNT2 TTR HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES ABCC6 DDR2 EBP ENPP1 LEMD3 SLC34A2 HP_ABNORMAL_CALVARIA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALVARIA_MORPHOLOGY AARS1 AASS ABL1 ACAN ACOX1 ACP5 ACTB ACTG1 ADAMTS10 ADAMTS3 ADAMTSL1 ADAR ADARB1 ADAT3 ADH5 ADK ADNP ADSL AFF4 AGA AGO2 AHDC1 AHI1 AIP AKT1 AKT3 ALDH18A1 ALDH6A1 ALG12 ALG14 ALG9 ALMS1 ALPL ALX1 ALX4 AMER1 ANKH ANKRD11 ANKRD17 ANTXR1 AP1G1 AP1S2 APC APC2 ARCN1 ARHGAP31 ARHGEF9 ARID1B ARID2 ARL13B ARL3 ARMC9 ARSB ARVCF ARX ASH1L ASPM ASXL1 ASXL3 ATAD3A ATIC ATP2B1 ATP6V0A2 ATP6V1B2 ATP7A ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BAP1 BGN BICRA BLM BLTP1 BMP4 BMPR1A BMS1 BPNT2 BRAF BRCA1 BRCA2 BRD4 BRIP1 BRWD3 BUB1 BUB1B BUB3 C12orf57 C2CD3 CA2 CACNA1C CACNA2D1 CAMK2A CAMKMT CARS1 CASK CASZ1 CBFB CBL CBY1 CC2D2A CCBE1 CCDC22 CCDC47 CCDC8 CCNQ CD19 CD81 CD96 CDC42BPB CDC45 CDC6 CDH11 CDH2 CDK10 CDK13 CDKN1C CDT1 CENPE CENPJ CEP104 CEP120 CEP152 CEP290 CEP41 CEP57 CHAMP1 CHD1 CHD3 CHD4 CHD5 CHN1 CHRNA7 CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CITED2 CKAP2L CLCN3 CLCN7 CNOT1 CNOT3 CNTN1 CNTNAP1 COG4 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL5A1 COL9A2 COLEC10 COLEC11 COMT COX4I1 COX4I2 COX5A CPLANE1 CPLX1 CR2 CREB3L1 CREBBP CRIPT CRPPA CRTAP CSGALNACT1 CSPP1 CTBP1 CTCF CTNNB1 CTNS CTSK CTU2 CUL4B CUL7 CUX1 CWC27 CYFIP2 CYP26B1 CYP27B1 CYP2R1 D2HGDH DDB2 DDR2 DDX3X DDX59 DDX6 DEAF1 DENND5A DHCR24 DHCR7 DHX37 DICER1 DIS3L2 DLK1 DLL3 DLL4 DLX3 DLX5 DMP1 DMXL2 DNA2 DNMT3A DOCK6 DONSON DPF2 DPH1 DPH2 DPM1 DPM2 DPYS DPYSL5 DSE DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP EDA EDA2R EDAR EDARADD EFNB1 EFTUD2 EHMT1 EIF5A EMC10 EML1 ENPP1 EOGT EP300 EPB41 EPB41L1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERMARD ESCO2 EXOC6B EXOC8 EXT2 EXTL3 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FBXL4 FBXO11 FERMT1 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIG4 FKBP10 FKTN FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FOCAD FOXF1 FOXP2 FRAS1 FREM1 FREM2 FRMPD4 FTO FUCA1 FZD2 GABRD GALNT2 GATA1 GATA4 GATA5 GATA6 GATAD2B GBA1 GDF1 GDF11 GET4 GJA1 GJA5 GJA8 GK GLB1 GLI3 GLIS3 GMNN GNAS GNB2 GNE GNPTAB GNS GOLGA2 GP1BB GPC3 GPC4 GPC6 GPR101 GPX4 GRB10 GRIA1 GRIA3 GRIN1 GRIP1 GTF2E2 GTF2H5 GYPC H3-3A H3-3B H4C5 H4C9 HBA1 HBA2 HBB HCFC1 HDAC4 HDAC6 HDAC8 HECTD4 HEPACAM HEPHL1 HERC1 HERC2 HES7 HGSNAT HIRA HK1 HMGA2 HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPK HNRNPR HNRNPU HOXD13 HPGD HRAS HSD17B4 HSPA9 HSPG2 HUWE1 HYLS1 HYMAI ICOS IDS IDUA IFIH1 IFT122 IFT140 IFT43 IFT52 IFT74 IFT80 IFT81 IGF2 IKBKG IL11RA IL6ST INPP5E INPPL1 INTS1 INTU IPO8 IQSEC2 IRF2BP2 IRX5 ITCH ITGB4 JAG1 JARID2 JMJD1C KANSL1 KAT6A KAT6B KATNB1 KATNIP KCNAB2 KCNH1 KCNJ1 KCNJ2 KCNJ5 KCNK9 KCNQ1 KCNQ1OT1 KCTD1 KDM1A KDM4B KDM5B KDM6B KDR KIAA0586 KIAA0753 KIDINS220 KIF11 KIF15 KIF1A KIF21A KIF7 KIT KLF1 KMT2A KMT2B KMT2C KMT2D KMT2E KNSTRN KPTN KRAS KRT14 KRT5 KYNU LAMA5 LARS1 LBR LEMD3 LETM1 LFNG LIFR LIG4 LMNB1 LMNB2 LMX1B LONP1 LRP4 LRP5 LRPPRC LSM11 LTBP1 LTBP4 LUZP1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MASP1 MBD5 MBTPS2 MCOLN1 MCTP2 MECP2 MED12 MED13L MED27 MEG3 MEGF8 MEIS2 MEN1 MESD MESP2 METTL23 MGAT2 MID1 MITF MKRN3 MKS1 MMP14 MMP2 MMP23B MN1 MOCS1 MOCS2 MOGS MPDU1 MPDZ MPLKIP MS4A1 MSL3 MSX2 MTHFR MTM1 MTOR MTX2 MVK MYCN MYH3 MYMK MYSM1 NAA10 NAA20 NAGLU NALCN NANS NBAS NCAPG2 NDE1 NEDD4L NEK1 NELFA NEPRO NEU1 NFIA NFIX NFKB1 NFKB2 NFKBIA NGLY1 NIPBL NKX2-5 NKX2-6 NLGN4X NLRP3 NONO NOTCH1 NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NPR2 NRAS NRCAM NSD1 NSD2 NSUN2 NTNG2 NUP188 NUP85 NXN OBSL1 OCA2 OCRL OFD1 OGDHL OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B P3H1 P4HB PAFAH1B1 PAICS PAK1 PAK2 PALB2 PAM16 PCDHGC4 PCGF2 PCLO PCNT PDE4D PDE6D PDGFRB PDHA1 PDHB PDHX PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PHEX PHF21A PHF6 PHOX2A PI4KA PIBF1 PIGA PIGG PIGL PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIK3CA PIK3CD PIK3R1 PIK3R2 PKDCC PLA2G6 PLAG1 PLAGL1 PLCH1 PLEC PLEKHM1 PLK4 PLOD1 PNPLA6 POGZ POLA1 POLE POLR1B POLR1C POLR1D POLR2A POLR3A POR POU1F1 PPIB PPM1B PPM1D PPP1CB PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PQBP1 PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCD PRKCZ PRKD1 PRMT7 PRPS1 PRUNE1 PSAT1 PSMC1 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTHLH PTPN11 PTRH2 PURA PWAR1 PWRN1 PYCR1 RAB18 RAB23 RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RALGAPA1 RB1 RBBP8 RBM8A RBPJ RECQL4 RELN RERE RFWD3 RFX7 RHOBTB2 RIPPLY2 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF135 RNF216 RNPC3 RNU12 RNU4ATAC RNU7-1 ROBO3 ROR2 RPGRIP1L RPL10 RPS19 RPS23 RPS6KA3 RREB1 RSPRY1 RTL1 RTTN RUNX2 RUSC2 RYR1 SALL4 SAMHD1 SATB1 SATB2 SC5D SCARF2 SCN4A SCNM1 SCO2 SCUBE3 SCYL2 SEC23A SEC24C SEC24D SERPINH1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SFRP4 SGMS2 SGSH SH2B1 SH3PXD2B SHANK3 SHOX SIK3 SIN3A SIX2 SIX6 SKI SKIC3 SLC12A6 SLC17A5 SLC25A12 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC34A3 SLC35A1 SLC35A2 SLC35D1 SLC39A13 SLC39A14 SLC39A8 SLC3A1 SLC6A9 SLX4 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCD1 SMC1A SMC3 SMC5 SMG8 SMG9 SMO SMOC1 SMS SNAI2 SNAP29 SNORD115-1 SNORD116-1 SNRPN SNX10 SNX14 SON SOST SOX2 SOX4 SOX5 SOX6 SOX9 SP7 SPECC1L SPEN SPOP SPRTN SPTA1 SPTB SPTBN1 SRD5A3 STAC3 STAG2 STAT3 STXBP1 SUFU SUPT16H SYNE1 SYT1 TAB2 TAF1 TAF8 TANC2 TAPT1 TARS1 TBC1D20 TBC1D24 TBC1D7 TBCD TBCE TBL1XR1 TBX1 TBX15 TBX2 TBX4 TBX6 TBXAS1 TCF12 TCF20 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDP2 TECPR2 TET3 TFAP2A TFAP2B TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THOC2 THUMPD1 TIMM50 TLK2 TMCO1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM53 TMEM67 TMEM70 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TOGARAM1 TONSL TOPORS TOR1A TP53RK TRAIP TRAPPC9 TREX1 TRIM37 TRIO TRIP11 TRIP12 TRIP13 TRPM3 TRPS1 TRPV6 TTC26 TTC5 TTC8 TUBA1A TUBB TUBB2B TUBB3 TUBGCP4 TUBGCP6 TWIST1 TXNDC15 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 UFC1 UFD1 UGDH UGP2 UNC80 UPF3B USB1 USP7 USP9X VAC14 VANGL2 VCP VDR VPS35L WAC WASHC5 WBP11 WDR19 WDR35 WDR73 WNT5A WNT7A XPA XPC XRCC2 XRCC4 YWHAE YY1 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC1 ZIC2 ZMPSTE24 ZMYND11 ZNF142 ZNF148 ZNF292 ZNF423 ZNF699 ZNHIT3 ZSWIM6 HP_ABNORMAL_CAPILLARY_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAPILLARY_PHYSIOLOGY ATRX BRAF CDH23 FSHR LCK NR3C1 TP53 USP48 USP8 XPNPEP2 HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY ABCC6 ABCD4 ABL1 ACADVL ACTA2 ACTC1 ACVR2B ADA2 ADAT3 ADK ADNP AFF4 AGGF1 AGO2 AGR2 AHI1 ALG12 ALG9 AMER1 AMMECR1 ANAPC7 ANK1 APC2 ARHGAP31 ARID1A ARID1B ARID2 ARSL ARVCF ASCC1 ASXL1 ASXL2 ATIC ATN1 ATP2B1 ATP6V1A ATP6V1E1 ATP9A AUTS2 B3GALT6 B3GAT3 B3GLCT BANF1 BAZ1B BBS2 BCL7B BCOR BCR BICRA BMP2 BMPR1A BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 BUD23 C2CD3 CACNA1C CACNA1D CARS1 CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCNO CCNQ CDC42BPB CDC45 CDK10 CDK13 CDK8 CEP290 CEP57 CFAP221 CFAP298 CFAP300 CFAP45 CFAP53 CFAP74 CFC1 CHD3 CHD4 CHD7 CHMP1A CHRM3 CHST14 CHST3 CIROP CITED2 CLCN3 CLIP2 COG6 COG7 COL11A1 COL1A1 COL1A2 COMT COX7B CPE CPLX1 CREBBP CRKL CSGALNACT1 CTBP1 CTCF CTU2 CUL3 CUX1 DACT1 DCPS DDX6 DEF6 DHCR7 DLK1 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC19 DNAJC30 DNAL1 DNMT3A DOHH DPF2 DPH1 DPH2 DPH5 DPYSL5 DRC1 DSE DVL3 DYNC2LI1 ECE1 EFTUD2 EIF2AK3 EIF4H ELN EOGT EP300 EPG5 EPHB4 ERCC4 ESCO2 EVC EVC2 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN2 FBXW11 FGF13 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FHOD3 FIG4 FKBP6 FKTN FLCN FLNA FLNB FLNC FOCAD FOXC1 FOXF1 FOXJ1 FOXP2 FRA10AC1 FRMD5 FTCD FUT8 G6PC3 GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GDF1 GET3 GJA1 GJA5 GJA8 GLI1 GLI3 GNB5 GNPTAB GP1BB GPC3 GPC4 GPC6 GPX4 GTF2I GTF2IRD1 GTF2IRD2 GYS1 H3-3A H3-3B H4C3 H4C9 HAAO HACD1 HCCS HDAC8 HEATR3 HIRA HNRNPH2 HNRNPK HRAS HSPA9 HYDIN IDH1 IFT172 IFT27 IGF1R INSR IPO8 IRX5 JAG1 JMJD1C KANSL1 KAT6A KAT6B KAT8 KATNB1 KCNH1 KDM1A KDM5B KDM6A KIAA0586 KIF11 KIF15 KIF20A KMT2A KMT2D KRAS LAMA5 LARP7 LETM1 LIMK1 LMBRD1 LMNA LMNB1 LMOD2 LONP1 LRRC56 LTBP4 LZTR1 MAD2L2 MAGEL2 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPKAPK5 MASP1 MBTPS2 MCIDAS MCM10 MED11 MED12 MED13L MED23 MED25 MEG3 MEGF8 MEIS2 METTL27 METTL5 MID1 MKKS MLXIPL MMP14 MMP2 MMP21 MOGS MPDZ MRAS MRPL3 MTX2 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYOCD MYPN MYRF NAA10 NCAPG2 NCF1 NDE1 NDUFB11 NDUFB7 NEK1 NEK10 NEK9 NELFA NF1 NFE2L2 NFIX NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NME5 NME8 NODAL NONO NOTCH1 NOTCH2 NPHP3 NPPA NR2F2 NSD1 NSD2 NUP155 NXN OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTUD6B PACS1 PACS2 PALB2 PAX3 PCGF2 PCNT PEX19 PEX2 PGAP1 PGAP2 PHGDH PIEZO1 PIGA PIGF PIGG PIGN PIGO PIGT PIK3R2 PKD1L1 PKDCC PLD1 PLXND1 POGZ POLA1 POLR3A POR PPFIBP1 PPP1CB PPP1R21 PPP2CA PPP2R5D PQBP1 PRDM13 PRIM1 PRKACA PRKACB PRR12 PRRX1 PTEN PTF1A PTPN11 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RARB RBM10 RBM8A RELN RERE RFC2 RFWD3 RIPK4 RIT1 RNU4ATAC ROBO1 ROBO4 ROR2 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RTL1 SALL1 SALL4 SCN1B SCN5A SCUBE3 SDHD SEC24C SETBP1 SETD1A SETD2 SGO1 SH2B1 SH3PXD2B SHMT2 SHOC2 SIAH1 SIK3 SKIC2 SKIC3 SLC19A2 SLC25A24 SLC25A36 SLC29A3 SLC35A2 SLC38A3 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMN1 SNRPB SNRPN SNX14 SON SOS1 SOX11 SOX4 SPAG1 SPATA5 SPECC1L SPEF2 SRCAP STAG2 STAMBP STAT1 STK36 STK4 STRA6 STRADA STX1A SUCLG1 SYT1 SZT2 TALDO1 TASP1 TBC1D24 TBL2 TBX1 TBX2 TBX20 TBX22 TBX4 TBX5 TGDS TGFB3 TGFBR1 TGFBR2 THOC6 THSD1 TKT TLL1 TMCO1 TMEM147 TMEM260 TMEM270 TMEM94 TNNI3 TNNT2 TOM1 TRAIP TRIO TRIP13 TRIP4 TRRAP TSFM TSR2 TTC12 TTC26 TUBG1 TWIST1 TXNL4A UBE2A UBE2T UBE3B UBR1 UBR7 UFC1 UFD1 UMPS UPF3B UQCRC2 USP18 USP9X VAC14 VEZF1 VPS33A VPS33B VPS35L VPS37D WASHC5 WDR35 WDR37 WLS WT1 XRCC2 XYLT2 YY1 ZBTB7A ZDHHC9 ZEB2 ZIC3 ZMPSTE24 ZMYM2 ZMYND10 ZNF341 ZNF668 ZNF699 HP_ABNORMAL_CARDIAC_BIOMARKER_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_BIOMARKER_TEST DSG2 NPPA SCN5A SVIL TTR HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 NOS1AP SCN10A SCN4B SCN5A SNTA1 TBX5 TRDN HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY AARS1 ABCD4 ABL1 ACADVL ACTA2 ACTC1 ACVR2B ADA2 ADAMTS10 ADAT3 ADK ADNP AFF4 AGGF1 AGO2 AHI1 AKT3 ALDH1A2 ALG12 ALG8 ALG9 ALKBH8 ALPK3 AMER1 AMMECR1 ANAPC7 ANK1 ANKRD11 APC2 ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARSL ARVCF ARX ASCC1 ASXL1 ASXL2 ATIC ATN1 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP9A ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT BAP1 BAZ1B BBS2 BCL7B BCOR BCR BICRA BMP2 BMPR1A BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BUB1 BUB1B BUB3 BUD23 C2CD3 CACNA1C CACNA1D CALM3 CAMK2A CANT1 CARS1 CASK CASZ1 CCBE1 CCDC174 CCDC22 CCDC32 CCDC47 CCND2 CCNQ CD96 CDC42 CDC42BPB CDC45 CDH2 CDK10 CDK13 CDK8 CDKL5 CEP290 CEP57 CFAP45 CFAP53 CFC1 CHD3 CHD4 CHD7 CHMP1A CHRM3 CHST14 CHST3 CIROP CITED2 CKAP2L CLCN3 CLIP2 COG1 COG6 COG7 COL11A1 COL1A1 COL1A2 COMT COQ4 COX7B CPE CPLX1 CRB2 CREBBP CRELD1 CRKL CSGALNACT1 CSRP3 CTBP1 CTCF CTU2 CUL3 CUX1 CWC27 CYP27A1 DACT1 DCPS DDX11 DDX3X DDX59 DDX6 DEF6 DGCR2 DGCR6 DGCR8 DHCR7 DLK1 DLL4 DMPK DMXL2 DNA2 DNAH9 DNAJC19 DNAJC30 DNMT3A DOHH DPF2 DPH1 DPH2 DPH5 DPYSL5 DSE DSG1 DST DTNA DVL3 DYNC2I1 DYNC2LI1 DYRK1A ECE1 ECHS1 EFTUD2 EHMT1 EIF2AK3 EIF4H ELN EOGT EP300 EPG5 EPHB4 ERBB3 ERCC2 ERCC3 ERCC4 ESCO2 ESS2 EVC EVC2 EXOC2 EXT2 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FBXW11 FGF13 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FKBP6 FKTN FLCN FLI1 FLNA FLNB FOCAD FOXC1 FOXC2 FOXF1 FOXP2 FRA10AC1 FRMD5 FTCD FTO FUT8 G6PC3 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF3 GDF6 GET3 GJA1 GJA5 GJA8 GLA GLI1 GLI3 GNAO1 GNB2 GNB5 GNPTAB GP1BB GPC3 GPC4 GPC6 GPX4 GRIN1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GYG1 H3-3A H3-3B H4C3 H4C9 HAAO HACD1 HCCS HDAC8 HEATR3 HIRA HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA13 HOXD13 HRAS HSPA9 HSPG2 HYLS1 HYMAI IDH1 IFT172 IFT27 IFT81 IGBP1 IGF1R INSR INTU IPO8 IRX5 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KCNA1 KCNAB2 KCNH1 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIF11 KIF15 KIF7 KIFBP KLHL41 KMT2A KMT2D KRAS LAMA5 LARP7 LARS2 LBR LEMD2 LETM1 LIMK1 LMBRD1 LMNA LMNB1 LONP1 LRP2 LRP5 LTBP2 LTBP4 LUZP1 LZTR1 MACF1 MAD2L2 MAGEL2 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPKAPK5 MASP1 MBTPS2 MCTP2 MED11 MED12 MED13L MED23 MED25 MEG3 MEGF8 MEIS2 MEOX1 METTL27 METTL5 MGAT2 MGP MICU1 MID1 MIR17HG MKKS MKS1 MLXIPL MMP14 MMP2 MMP21 MMP23B MOGS MPDZ MPL MPLKIP MRAS MRPL3 MT-CYB MTFMT MTX2 MYBPC3 MYCN MYH3 MYH6 MYH7 MYL2 MYMK MYOCD MYPN MYRF NAA10 NAA20 NAE1 NCAPG2 NCF1 NDE1 NDUFB11 NDUFB7 NDUFC2 NEDD4L NEK1 NEK9 NELFA NEUROD2 NF1 NFE2L2 NFIX NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPHP3 NR2F2 NSD1 NSD2 NSDHL NUP107 NUP188 NXN OCLN ODAD1 ODAD3 OTUD5 OTUD6B PACS1 PACS2 PAH PALB2 PAX3 PCGF2 PCNT PDHA1 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGM1 PHGDH PI4KA PIEZO1 PIEZO2 PIGA PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGT PIK3CA PIK3R2 PKD1L1 PKDCC PLAGL1 PLCH1 PLD1 PLXND1 PNKP POGZ POLA1 POLR1A POLR3A POR PORCN PPFIBP1 PPM1D PPP1CB PPP1R21 PPP2CA PPP2R5D PQBP1 PRDM13 PRDM16 PRIM1 PRKACA PRKACB PRKCZ PRKD1 PRR12 PRRX1 PSMC1 PSMD12 PTEN PTF1A PTPN11 PUF60 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RARB RBM10 RBM8A RECQL4 RELN RERE RFC2 RFWD3 RFX7 RIPK4 RIT1 RMRP RNF113A RNU4ATAC ROBO1 ROBO4 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RYR1 SALL1 SALL4 SATB1 SATB2 SCN1B SCN2A SCUBE3 SDHD SEC24C SEC31A SEMA3E SETBP1 SETD1A SETD2 SETD5 SF3B2 SF3B4 SH2B1 SH3PXD2B SHANK3 SHMT2 SHOC2 SIAH1 SIK1 SIK3 SIX6 SKI SKIC2 SKIC3 SLC12A2 SLC19A2 SLC25A22 SLC25A24 SLC25A36 SLC29A3 SLC32A1 SLC35A2 SLC37A4 SLC38A3 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOX11 SOX2 SOX4 SPATA5 SPECC1L SPEN SPTBN1 SRCAP STAG1 STAG2 STAMBP STAT1 STK4 STRA6 STRADA STX1A SUCLG1 SUPT16H SVBP SYNE1 SYT1 SZT2 TAB2 TALDO1 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX2 TBX20 TBX22 TBX3 TBX4 TBX5 TCIRG1 TCTN3 TET3 TFAP2B TGDS TGFB3 TGFBR1 TGFBR2 THOC6 THPO THSD1 TIAM1 TKT TLL1 TMCO1 TMEM147 TMEM237 TMEM260 TMEM270 TMEM53 TMEM94 TNFRSF11A TNNT2 TOM1 TP63 TPR TRAIP TRIM8 TRIO TRIP13 TRIP4 TRRAP TSFM TSR2 TTC26 TTC7A TUBG1 TWIST1 TXNL4A UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UMPS UPF3B UQCRC2 UQCRFS1 USP18 USP9X VAC14 VEZF1 VIPAS39 VPS13B VPS33A VPS33B VPS35L VPS37D WAC WASHC5 WBP11 WDPCP WDR26 WDR35 WDR37 WLS WNT4 WT1 XRCC2 XYLT1 XYLT2 YARS1 YY1 YY1AP1 ZBTB7A ZDHHC9 ZEB2 ZIC3 ZMPSTE24 ZMYM2 ZNF341 ZNF462 ZNF668 ZNF699 HP_ABNORMAL_CARDIAC_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_TEST AKAP9 ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 DSG2 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 NOS1AP NPPA SCN10A SCN4B SCN5A SNTA1 SVIL TBX5 TRDN TTR HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY AARS1 ABCA1 ABCC6 ABCC9 ABCG5 ABCG8 ABL1 ACADVL ACTA1 ACTC1 ACTN2 ACVR2B ADA2 ADAM17 ADAMTS10 ADAMTS19 AFF4 AGL AIP AKT3 ALDH18A1 ALDH1A2 ALG12 ALG8 ALG9 ALKBH8 ALPK3 AMER1 ANKRD11 APC2 APOB ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARL6 ARSK ARSL ARVCF ARX ASXL1 ATN1 ATP13A3 ATP6AP2 ATP6V0A2 ATP6V1E1 ATRX B3GALT6 B3GAT3 B3GLCT BAP1 BAZ1B BBS1 BCL7B BCOR BCR BIN1 BMP2 BMPR1A BMPR2 BRAF BRD4 BRF1 BSCL2 BTK BUB1 BUB1B BUB3 BUD23 C1QBP C2CD3 CACNA1C CACNA1D CALM3 CAMK2A CANT1 CARS1 CASK CAV3 CCBE1 CCDC174 CCDC22 CCDC28B CCDC32 CCDC47 CCND2 CD96 CDC45 CDH2 CDK13 CDK8 CDKL5 CEP290 CEP57 CFTR CHD3 CHD4 CHD7 CHMP1A CHRM3 CHST3 CIROP CITED2 CKAP2L CLIP2 CLN3 COG1 COG6 COG7 COL1A2 COLQ COMT COQ4 COQ7 COQ9 COX16 COX6B1 COX7B CPLX1 CPT2 CRB2 CREBBP CRKL CSGALNACT1 CSRP3 CTBP1 CTNNA3 CTU2 CUX1 CWC27 DDX11 DDX59 DEF6 DGCR2 DGCR6 DGCR8 DHCR7 DLK1 DLL4 DMD DMXL2 DNAJC19 DNAJC30 DNMT3A DOHH DPF2 DPH1 DPH2 DPH5 DPYSL5 DSC2 DSG1 DSG2 DSP DST DTNA DVL3 DYNC2I1 DYNC2LI1 DYRK1A DYSF ECE1 ECHS1 EFEMP2 EFTUD2 EGFR EIF4H ELN ENPP1 EOGT EP300 EPCAM EPG5 ERBB3 ERCC2 ERCC3 ESCO2 ESPN ESS2 EVC EVC2 EXOC2 EXT2 FADD FAN1 FANCB FANCC FANCI FBLN5 FBN1 FBN2 FCGR2A FGFR1 FGFR2 FGFRL1 FH FHL1 FIBP FIG4 FKBP6 FKRP FLI1 FLNA FLNB FLNC FNIP1 FOCAD FOXC2 FOXF1 FRA10AC1 FTO FZR1 GAA GATA1 GATA4 GATA5 GATA6 GDF1 GDF3 GDF6 GET3 GJA1 GJA5 GJA8 GLA GLI1 GLI3 GLRX5 GMPPB GNAO1 GNB2 GNPTAB GP1BB GPC3 GPC4 GPC6 GPR101 GRIN1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GYG1 GYS1 HACD1 HADHA HADHB HCCS HCN4 HDAC4 HDAC8 HEATR3 HIRA HNRNPK HNRNPR HOXA13 HRAS HSD11B2 HYLS1 HYMAI IDH1 IFIH1 IFT172 IFT27 IFT81 IGBP1 IGF1R INSR IPO8 ITGA7 JAG1 JAM3 JMJD1C JPH2 JUP KANSL1 KAT5 KAT6A KAT6B KAT8 KCNA1 KCNJ5 KDM3B KDM6A KIFBP KLHL41 KMT2D KRAS LAMB2 LARS2 LBR LDB3 LDLR LDLRAP1 LEMD2 LETM1 LIMK1 LMNA LONP1 LOX LRP2 LRP5 LRPPRC LTBP1 LTBP2 LTBP4 LZTR1 MACF1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPKAPK5 MASP1 MED12 MED13L MED23 MED25 MEG3 MEIS2 MEN1 MEOX1 METTL27 MGAT2 MGP MICU1 MID1 MIR17HG MKKS MLH1 MLH3 MLXIPL MMP14 MMP2 MMP21 MOGS MPLKIP MSH2 MSH6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTX2 MYBPC3 MYCN MYH3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOCD MYOZ2 MYPN MYRF NAA10 NAA20 NAE1 NAXD NCF1 NDE1 NDUFA11 NDUFB11 NDUFB7 NDUFC2 NDUFS2 NEDD4L NEK1 NEK9 NEUROD2 NEXN NF1 NFIX NHLRC2 NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NOD2 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPHP3 NPPA NR2F2 NSD1 NSD2 NSDHL NSMCE2 NUP107 NUP188 NXN ODAD1 ODAD3 OTUD5 OTUD6B PACS1 PACS2 PAH PALB2 PCSK9 PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHGDH PI4KA PIEZO2 PIGL PIGN PIGP PIGQ PIK3CA PIK3R2 PKD1L1 PKP2 PLAGL1 PLCH1 PLD1 PLN PLXND1 PMS1 PMS2 PNKP POLA1 POLG POLG2 POMT1 POMT2 PORCN PPFIBP1 PPM1D PPP1CB PPP2CA PPP2R5D PQBP1 PRDM13 PRKACA PRKACB PRKAG2 PSEN1 PSEN2 PSMC1 PSMD12 PTPN11 PUF60 RAB23 RAC1 RAD21 RAI1 RARB RBM8A RERE RFC2 RFX7 RIT1 RNF113A RNU4ATAC RNU7-1 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RREB1 RRM2B RSPO2 RTL1 RYR1 SALL1 SALL4 SATB1 SATB2 SCN1B SCN2A SCN5A SCO1 SDHA SDHAF1 SDHB SDHD SEC24C SEC31A SELENON SEMA4A SETD2 SETD5 SF3B2 SF3B4 SFTPB SGCD SGCG SH3PXD2B SHANK3 SHOC2 SIK1 SIX3 SIX6 SKIC2 SKIC3 SLC12A2 SLC19A2 SLC25A12 SLC25A20 SLC25A22 SLC25A24 SLC25A4 SLC29A3 SLC2A10 SLC32A1 SLC37A4 SLF2 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SNRPB SON SOS1 SOS2 SOX11 SOX2 SOX4 SPECC1L SPEG SPEN SPTBN1 SREBF1 STAG1 STAG2 STAMBP STRA6 STX1A SVBP SVIL SYNE1 SYT2 TAB2 TALDO1 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX20 TBX3 TBX5 TCAP TCIRG1 TCTN3 TET3 TFAP2B TGDS TGFB1 TGFB3 TGFBR2 THOC6 TIAM1 TKT TLL1 TMEM237 TMEM260 TMEM270 TMEM43 TMEM53 TMEM94 TNFRSF11A TNNC1 TNNI3 TNNT2 TP63 TPK1 TPM2 TPM3 TPR TRAIP TRAPPC11 TRIM8 TRIO TRIP13 TRMT10C TRRAP TSR2 TTC26 TTC7A TTN TTR TUBG1 TWNK TXNDC15 TXNL4A UBE2A UBE3B UBR1 UBR7 UFD1 UMPS UQCRFS1 VAC14 VIPAS39 VPS13B VPS33B VPS35L VPS37D WAC WASHC5 WBP11 WDPCP WDR26 WDR35 WDR37 WNT4 WT1 XYLT1 XYLT2 YARS1 YY1AP1 ZBTB7A ZEB2 ZIC3 ZMPSTE24 ZMYM2 ZNF462 ZNF687 ZNF699 HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION AARS2 ABCC6 ABCC9 ABCG5 ABCG8 ACADVL ACTA2 ACTC1 ADAMTS19 ALPK3 APOB ATP13A3 ATRX B2M BAG3 BAG5 BMPR2 BTNL2 CCND1 CITED2 COA6 CRYAB CSRP3 DAXX DES DLD DMD DSG2 DVL1 DYSF EFEMP2 EIF2AK4 ELN ENPP1 EYA4 FBLN5 FBN1 FHOD3 FKRP FKTN FLNC FOCAD FOXE3 GAA GATA4 GATA6 GATAD1 GDF1 GET3 GJA5 GTPBP3 HEY2 HLA-DRB1 KCNJ5 KIF20A KLHL24 LAMA2 LAMA4 LAMP2 LDB3 LDLR LDLRAP1 LMNA LMOD2 LOX LTBP1 MAT2A MFAP5 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYBPC3 MYH11 MYH6 MYH7 MYL3 MYLK MYOZ2 MYPN NEXN NKX2-5 NONO NPPA NR2F2 OTUD5 PCSK9 POLG POLG2 POMT1 POMT2 PPCS PRDM16 PRKG1 PSEN1 PSEN2 RAF1 RBM20 ROR2 RPL3L RRAGD RRM2B SCN5A SDHA SDHAF1 SDHB SDHD SELENON SGCD SGCG SLC25A4 SLC34A2 SLC6A6 SMAD2 SMAD3 SMAD4 TAB2 TAFAZZIN TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLL1 TNNC1 TNNI3 TNNT2 TOP3A TPM1 TTN TTR TWNK VCL VEZF1 VHL WNT5A ZMPSTE24 HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY ACTC1 ACTN2 ALPK3 CACNA1S COA5 DOLK DSP GYG1 KLHL24 LMOD2 PNPLA2 RPL3L RYR1 TNNI3 TNNT2 VCL HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIOVASCULAR_SYSTEM_PHYSIOLOGY AAAS AARS2 ABCA1 ABCA12 ABCA3 ABCB4 ABCB6 ABCC6 ABCC8 ABCC9 ABCD3 ABCD4 ABCG5 ABCG8 ACAD8 ACAD9 ACADM ACADVL ACAT1 ACE ACP5 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTG2 ACTN2 ACTN4 ACVRL1 ACY1 ADA ADA2 ADAMTS10 ADAMTS13 ADAMTS19 ADAMTSL2 ADAMTSL4 ADAR ADCY5 ADD1 ADK ADNP AFF4 AGA AGGF1 AGK AGO2 AGPAT2 AGR2 AGT AGTR1 AGXT AIP AKAP9 AKT1 AKT3 ALB ALDH18A1 ALDH1A2 ALDOA ALDOB ALG10B ALG5 ALG9 ALMS1 ALPK3 ALPL ALX4 AMACR AMER1 AMN ANGPTL6 ANK2 ANKRD11 ANKS6 AP1S3 APC APOA1 APOB APOE APP APRT AQP2 ARF1 ARFGEF2 ARHGAP31 ARL6 ARMC5 ARPC1B ARPC4 ARSA ARSB ARSK ARVCF ASXL1 ATOH7 ATP11A ATP13A3 ATP1A2 ATP1A3 ATP1B1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATPAF1 ATPAF2 ATRX ATXN7 AVPR2 B2M B3GALT6 B3GLCT B4GALT7 BAG3 BAG5 BANF1 BANK1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCHE BCL7B BCOR BCR BEST1 BICC1 BICD2 BICRA BLK BMP2 BMP6 BMPR1A BMPR2 BNC2 BPTF BRAF BRAT1 BRCA2 BRCC3 BRF1 BSCL2 BSND BTNL2 BUB1 BUB1B BUB3 BUD23 BVES C12orf57 C1QBP C3 C4A C4B CA2 CACNA1A CACNA1C CACNA1D CACNA1H CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CALR CAPN5 CASP10 CASQ2 CASR CAV1 CAV3 CAVIN1 CBL CBS CC2D2A CCDC22 CCDC28B CCDC32 CCM2 CCN2 CCND1 CCND2 CCNQ CCR1 CCR6 CD109 CD2AP CD46 CD55 CDC42 CDC45 CDC73 CDH2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CELA2A CEP164 CEP19 CEP290 CEP57 CEP83 CFAP418 CFB CFH CFHR1 CFHR3 CFI CFTR CHCHD2 CHD3 CHD7 CHRNA3 CHST14 CHST3 CIC CIDEC CIROP CISD2 CITED2 CIZ1 CLCF1 CLCN2 CLCN7 CLCNKA CLCNKB CLDN1 CLIC2 CLIP2 CLN3 CLPB CNBP COA6 COG1 COG7 COL1A1 COL1A2 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COLGALT1 COLQ COMT COPA COQ2 COQ4 COQ7 COQ9 CORIN COX16 COX5A COX6B1 COX7B COX8A CP CPOX CPT1A CPT2 CR2 CREBBP CRKL CRLF1 CRLS1 CRYAB CSF2RA CSF2RB CSGALNACT1 CSRP3 CST3 CTC1 CTCF CTLA4 CTNNA3 CTNNB1 CTNS CTSH CUBN CUL3 CWC27 CYB561 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP26C1 CYP27A1 CYP3A5 CYP7B1 CYSLTR2 D2HGDH DAXX DBH DCAF17 DCDC2 DCHS1 DCTN1 DDC DDX3X DDX6 DEF6 DES DGUOK DHCR7 DHPS DIS3L2 DISP1 DLD DLK1 DLL1 DLL4 DLST DMD DMPK DNAJB11 DNAJC13 DNAJC19 DNAJC30 DNAL1 DNASE1 DNM2 DNMT3A DOCK6 DOCK7 DOCK8 DOHH DOLK DPAGT1 DPH1 DPH2 DPP6 DPP9 DPYSL5 DSC2 DSC3 DSE DSG1 DSG2 DSP DST DTNA DUOX2 DUOXA2 DVL1 DVL3 DYRK1A DYRK1B DYSF DZIP1 DZIP1L EBP ECE1 ECHS1 EDA EDA2R EFEMP1 EFEMP2 EGFR EHMT1 EIF2AK4 EIF4G1 EIF4H ELAC2 ELN ELP1 EMD ENG ENPP1 EOGT EP300 EPAS1 EPCAM EPG5 EPHB4 EPOR ERAP1 ERCC4 ERCC6 ERCC8 ERMARD ETS1 EXOSC2 EXOSC5 EXT2 EYA4 F10 F11 F13A1 F13B F2 F5 F7 F8 F9 FAH FAM13A FAN1 FAR1 FARSB FAS FAT4 FBLN5 FBN1 FBN2 FBP1 FBXL4 FBXW11 FCGR2B FCGR2C FCGR3B FGA FGB FGD1 FGF8 FGFR1 FGFR2 FGFR3 FGG FH FHL1 FHOD3 FIG4 FIP1L1 FKBP14 FKBP6 FKRP FKTN FLAD1 FLI1 FLNA FLNC FLT1 FLT4 FMO3 FMR1 FN1 FNIP1 FOCAD FOS FOXA2 FOXC2 FOXE3 FOXF1 FOXH1 FOXP1 FSHR FUZ FXN FZD4 G6PC1 G6PC3 GAA GABRA3 GALC GANAB GAS1 GATA2 GATA4 GATA5 GATA6 GATAD1 GBA1 GBE1 GCDH GCGR GCH1 GCK GDAP1 GDF1 GDF2 GEMIN4 GET3 GFI1B GFM2 GGCX GIGYF2 GIMAP5 GJA1 GJA5 GJA8 GLA GLB1 GLI2 GLIS3 GLUL GLYCTK GMPPA GMPPB GNA11 GNAI2 GNAQ GNAS GNB2 GNB3 GNB5 GNPTAB GNPTG GNS GP1BA GP1BB GP9 GPC3 GPC4 GPD1L GPR101 GPR35 GPX4 GREM1 GRIN1 GSN GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUCY1A1 GYG1 H19 H4C3 HAAO HABP2 HADH HADHA HADHB HAMP HBA1 HBA2 HBB HCCS HCN4 HCRT HDAC4 HEATR3 HELLPAR HEPHL1 HESX1 HEXB HEY2 HFE HGD HIRA HIVEP2 HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMBS HMCN1 HMGCL HMOX1 HNF1A HNF4A HNRNPA1 HNRNPA2B1 HNRNPK HPGD HPS1 HPSE2 HRAS HSD11B2 HSD3B2 HSD3B7 HSPG2 HTRA1 HTRA2 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IFT27 IFT74 IGFBP7 IGHG1 IKBKG IKZF1 IL10 IL10RA IL12A IL12A-AS1 IL12B IL12RB1 IL23R IL36RN IL6ST IMPDH2 INF2 INPP5E INS INVS IPO8 IQCB1 IRAK1 IRF2BP2 IRF4 IRF5 IRX5 ISCU ITCH ITGA2 ITGA2B ITGA8 ITGAM ITGB3 IVD IYD JAG2 JAK2 JAZF1 JMJD1C JPH2 JUP KANSL1 KAT6A KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH1 KCNH2 KCNJ1 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KCNJ3 KCNJ5 KCNJ8 KCNK3 KCNN4 KCNQ1 KCTD1 KDM6A KIAA0319L KIF12 KIF1B KIF20A KIF23 KIFBP KIT KLHL24 KLHL3 KLRC4 KMT2D KRAS KRIT1 KRT18 KYNU LAMA2 LAMA3 LAMA4 LAMB2 LAMB3 LAMC2 LAMP2 LARS2 LBR LBX1 LCAT LCK LDB3 LDLR LDLRAP1 LEMD2 LEMD3 LEP LEPR LHX3 LHX4 LIFR LIMK1 LIMS2 LIPA LIPC LIPE LIPT1 LMAN1 LMBRD1 LMNA LMNB1 LMOD2 LMX1B LOX LPIN1 LPL LRIG2 LRP1 LRP12 LRP4 LRP5 LRP6 LRPPRC LRRK2 LSM11 LTBP1 LTBP2 LTBP3 LYZ LZTFL1 LZTR1 MADD MAFB MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MARS2 MAT2A MAX MBTPS2 MC2R MC4R MCFD2 MCTP2 MDH2 MDM2 MECP2 MED12 MED25 MEF2A MEFV MEG3 MEGF8 MEN1 METTL27 MFAP5 MGAT2 MGME1 MGP MKKS MKS1 MLH1 MLH3 MLX MLXIPL MMACHC MMEL1 MMP14 MMP2 MMUT MOG MPI MPL MRAP MRAS MRPL12 MRPS14 MSH2 MSH6 MST1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTO1 MTRR MTTP MTX2 MUC1 MUC5B MVK MYBPC3 MYC MYCN MYD88 MYH11 MYH6 MYH7 MYH9 MYL2 MYL3 MYL4 MYLK MYLK2 MYMK MYMX MYO1H MYO5B MYOZ2 MYPN MYRF MYSM1 NAA10 NABP1 NAF1 NAGA NAGS NAXD NCAPG2 NCF1 NDE1 NDP NDUFA2 NDUFA8 NDUFAF1 NDUFAF6 NDUFB10 NDUFB11 NDUFS2 NEDD4L NEK1 NEK8 NEK9 NEU1 NEUROG3 NEXN NF1 NF2 NFIA NFIX NFKB2 NFU1 NKAP NKX2-1 NKX2-5 NKX2-6 NLRC4 NNT NOD2 NODAL NONO NOS1AP NOS3 NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NPHP3 NPHP4 NPM1 NPPA NR2F2 NR3C1 NR3C2 NR4A2 NRAS NRXN1 NSMCE2 NT5E NTRK1 NUMA1 NUP155 OBSCN ODAD1 OFD1 OPA1 OSGEP OTUD5 OTX2 P2RY11 P4HA2 PAM16 PARN PAX2 PAX8 PBX1 PCCA PCCB PCGF2 PCSK9 PDCD1 PDCD10 PDE11A PDE3A PDE4D PDGFB PDGFRA PDSS1 PDX1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGM1 PHF21A PHOX2B PHYH PIEZO1 PIGA PIGM PIGN PIGU PIK3C2A PIK3CA PIK3R2 PITX2 PKD1 PKD2 PKHD1 PKP2 PLAU PLCG2 PLCH1 PLD1 PLEC PLIN1 PLN PLOD1 PLOD3 PLP1 PLVAP PLXND1 PML PMM2 PMS1 PMS2 PNPLA2 POLG POLG2 POLR3A POMT1 POMT2 POR POT1 POU1F1 POU2AF1 POU3F4 POU6F2 PPA2 PPARG PPCS PPOX PPP1CB PRDM16 PRDM5 PRF1 PRG4 PRIM1 PRKACA PRKAG2 PRKAR1A PRKCSH PRKG1 PRKG2 PROC PROP1 PRORP PROS1 PRTN3 PSAP PSEN1 PSEN2 PSMB8 PSMD12 PTCH1 PTEN PTGIS PTPN11 PTPN22 PUF60 PXK PYGM PYROXD1 RAB23 RAB3GAP2 RACGAP1 RAD21 RAF1 RANBP2 RANGRF RARA RASA1 RASA2 RB1 RBBP8 RBCK1 RBM10 RBM20 RBPJ REN REST RET RFC2 RGS5 RHAG RHBDF2 RHCE RHD RIGI RIT1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF125 RNF135 RNF168 RNF2 RNF213 RNU12 RNU4ATAC RNU7-1 ROBO4 ROR2 RPGRIP1L RPL27 RPL3L RPL5 RPS19 RPS20 RPS6KA3 RRAGD RRAS RRAS2 RREB1 RRM2B RS1 RSPRY1 RTEL1 RTL1 RUNX1 RYR1 RYR2 SAA1 SALL4 SAMD9 SAMHD1 SARDH SARS2 SAT1 SBDS SCAPER SCARB2 SCLT1 SCN10A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCUBE3 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SEC24C SEC63 SELENON SEMA3A SEMA4A SEMA4D SERPINA6 SERPINC1 SERPINE1 SERPINF2 SERPING1 SF3B1 SFTPA1 SFTPA2 SFTPB SFTPC SGCA SGCD SGCG SGO1 SH2B3 SHH SHOC2 SHPK SIM1 SIN3A SIX3 SKI SKIC2 SKIC3 SLC12A1 SLC12A3 SLC17A5 SLC19A2 SLC1A3 SLC22A5 SLC25A11 SLC25A13 SLC25A20 SLC25A24 SLC25A26 SLC25A3 SLC25A4 SLC29A3 SLC2A10 SLC30A10 SLC30A9 SLC31A1 SLC34A2 SLC35A1 SLC35A2 SLC37A4 SLC40A1 SLC4A1 SLC4A3 SLC5A5 SLC6A5 SLC6A6 SLC6A8 SLC7A7 SLCO2A1 SLMAP SMAD2 SMAD3 SMAD4 SMAD6 SMAD9 SMARCA4 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMC3 SMC5 SMO SNAP29 SNCA SNIP1 SNORD118 SNTA1 SNX10 SON SOS1 SOS2 SOX10 SOX3 SOX5 SP110 SPARC SPECC1L SPEG SPG11 SPIB SPP1 SPRED1 SPRED2 SPRY2 SPTBN1 SREBF1 SRSF2 SRY STAG2 STAR STAT1 STAT2 STAT3 STAT4 STAT5B STIL STIM1 STING1 STK11 STN1 STOX1 STRA6 STRADA STT3A STX16 STX1A STX3 SUFU SUGCT SVIL SYNE1 SYNE2 SYT2 SZT2 TAB2 TAF2 TAFAZZIN TANGO2 TAOK1 TBCK TBL1XR1 TBL2 TBX1 TBX19 TBX2 TBX20 TBX3 TBX4 TBX5 TCAP TCF4 TCIRG1 TDGF1 TDP2 TECRL TEK TERC TERT TET2 TF TFAM TG TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TGIF1 THBD THOC2 THOC6 THPO THSD1 THSD4 TINF2 TJP2 TKFC TLL1 TLR4 TLR7 TMEM126B TMEM127 TMEM237 TMEM260 TMEM270 TMEM43 TMEM67 TMEM70 TMTC3 TNFAIP3 TNFRSF11A TNFRSF11B TNFRSF1A TNFSF11 TNFSF15 TNFSF4 TNIP1 TNNC1 TNNC2 TNNI3 TNNI3K TNNT2 TNPO3 TNXB TOM1 TOP3A TOR1A TOR1AIP1 TP53 TPI1 TPM1 TPM2 TPM3 TPO TRAF3IP1 TRAF7 TRDN TREX1 TRIM28 TRIM32 TRIM37 TRIP13 TRIP4 TRPC6 TRPM4 TRRAP TSC1 TSC2 TSHB TSHR TSPAN12 TSPYL1 TTC26 TTC7A TTC8 TTN TTPA TTR TUBB TULP3 TWIST1 TWNK TXNDC15 TXNRD2 UBAC2 UBE2A UBE2L3 UBR1 UCP2 UFD1 UQCRFS1 USP18 USP48 USP8 VAC14 VANGL1 VCL VCP VEZF1 VHL VPS33A VPS35 VPS35L VPS37D VWF WAC WAS WASHC5 WDPCP WDR19 WDR35 WDR37 WFS1 WIPF1 WIPI2 WNK1 WNK4 WNT4 WNT5A WRN WT1 XK XPNPEP2 XPNPEP3 XYLT1 XYLT2 YY1 YY1AP1 ZBTB16 ZEB2 ZFYVE19 ZIC2 ZIC3 ZMPSTE24 ZNF148 ZNF341 ZNF365 ZNF408 ZNF469 ZNF699 ZNFX1 ZNRF3 HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY ABCA1 ABCG5 ABCG8 ACTA2 AEBP1 APOB ATP7A BAZ1B BCL7B BRCA1 BRCA2 BRIP1 BUD23 CLIP2 COL3A1 COL5A1 DCDC2 DNAJC30 EIF4H ELN ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FKBP6 FOXE3 GTF2I GTF2IRD1 GTF2IRD2 HEY2 HOXA1 HTRA1 IPO8 LDLR LDLRAP1 LIMK1 LMNA LMX1B LOX MAD2L2 MAT2A METTL27 MFAP5 MLXIPL MYH11 MYLK NCF1 NDE1 NF1 NKX2-6 PALB2 PCGF2 PCSK9 PLXND1 PRKG1 RAD51 RAD51C RFC2 RFWD3 SDHD SLC2A10 SLX4 SMAD2 SMAD3 SMAD4 SON STAT1 STX1A TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD1 THSD4 TMEM270 TMEM67 TOM1 UBE2T VPS37D XRCC2 YY1AP1 ZMPSTE24 HP_ABNORMAL_CARPAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARPAL_MORPHOLOGY ABCC6 ALDH18A1 APC ATP7A B3GALT6 BGN BHLHA9 BMPR1B BPNT2 CANT1 CBFB CHST3 CHSY1 COL27A1 COL2A1 COMP DDR2 DYM DYNC2LI1 EBP EIF2AK3 ENPP1 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 FBLN1 FGFR2 FGFR3 FLNA FLNB GDF5 GLI1 GNPTAB GPC3 GPC4 HOXA13 HOXD13 IDH1 IHH KIF22 LEMD3 LMBR1 LONP1 LRP4 MACROH2A1 MAFB MAP3K7 MATN3 MBTPS1 MMP14 MMP2 MYH3 NANS NIN NOG NOTCH2 NXN PAX3 PDE4D PIGV PITX1 POR PRKACA PRKACB PTH1R RBM8A RECQL4 RMRP ROR2 RSPRY1 SALL4 SETD2 SHH SHOX SLC10A7 SLC34A2 SLC35B2 SLC35D1 SMOC1 TBX5 TONSL TRIP11 TRPV4 UFSP2 WNT7A XRCC2 XYLT1 HP_ABNORMAL_CARTILAGE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARTILAGE_MORPHOLOGY ABCC6 ANKH COL2A1 DDR2 DHX30 EDN1 ENPP1 EXT1 EXT2 F8 FGFR1 FGFR2 FGFR3 FLNB GNAI3 HGD HLA-B HS2ST1 IDH1 IDH2 KRAS LBR MAD1L1 MGP NSD2 PEX2 PEX5 PLCB4 POLR1B POLR1C POLR1D PTCH1 PTH1R PTPN11 PUF60 SIX3 SLC26A2 STEEP1 TCOF1 TCTN3 TGIF1 TNFRSF11B TRAPPC2 TWIST1 UBA1 ZBTB20 ZNF462 HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY ADAR ASNS ATP13A2 BSCL2 COASY DCX FOXP2 FTL GCDH HTT JPH3 MT-ATP6 NDUFAF5 NEK1 NUP54 NUP62 OPHN1 SLC2A3 TIMM8A TREM2 TUBB2B TUBB3 TYROBP VPS13A HP_ABNORMAL_CD4_CD8_RATIO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CD4_CD8_RATIO AP3B1 CASP8 CIITA CTPS1 DEF6 GATA2 IL2RA IL2RB MAGT1 PGM3 POMP RASGRP1 RFX5 RFXANK RFXAP UNC119 WAS WDR1 ZAP70 HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID BTNL2 COPA HLA-DRB1 MUC5B NKX2-1 SFTPA1 SFTPA2 SFTPC TERT HP_ABNORMAL_CELLULAR_PHENOTYPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_PHENOTYPE AARS1 AARS2 ACAD8 ACAD9 ACADM ACD ACTC1 ACTN2 ADA ADA2 ADAM17 ADAMTS3 AFG3L2 AGK AICDA AIFM1 AK2 AKT1 ALB ALG12 ALPK3 AP3B1 ARHGEF1 ARSA ARVCF ASAH1 ATM ATP5F1A ATP5F1D ATP5F1E ATP6AP1 ATP6AP2 ATPAF2 ATXN2 B2M BACH2 BAP1 BCL10 BCS1L BLM BLNK BOLA3 BRCA1 BRCA2 BRIP1 BTK BUB1B C1QBP CA2 CACNA1S CAMKMT CARD10 CARD11 CARD9 CARMIL2 CARS1 CARS2 CASP10 CASP8 CAVIN1 CCBE1 CCND1 CD19 CD247 CD27 CD28 CD320 CD3D CD3E CD3G CD40 CD40LG CD55 CD70 CD79A CD79B CD81 CDAN1 CDCA7 CDK5 CDSN CENATAC CHCHD10 CHKB CIITA CISD2 CLCN7 CLN3 CLN5 CLN6 CLN8 CNBP COA3 COA5 COA6 COA8 COG6 COL1A1 COL7A1 COMT CORO1A COX16 COX20 COX4I1 COX5A COX6A2 CPT2 CR2 CRLS1 CSNK2A1 CTLA4 CTNNBL1 CTNS CTPS1 CXCR4 CYBA CYBB CYC1 CYP27A1 DCLRE1B DCLRE1C DDB2 DEF6 DGCR2 DGCR6 DGCR8 DGUOK DLAT DLD DNA2 DNAJC21 DNAJC30 DNAJC5 DNM1L DNMT1 DNMT3B DOCK2 DOCK8 DOLK DSG1 DSP EARS2 ECHS1 EGFR EHHADH ELAC2 ELANE EPG5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 ETFA ETFB ETFDH EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXL4 FCGR3A FDX2 FDXR FH FLAD1 FLNA FMR1 FNIP1 FOXP3 FOXRED1 FUS FXN GATA3 GATC GATM GBA1 GFER GFM1 GFM2 GGPS1 GJA1 GLRX5 GNE GNPTAB GNS GP1BB GPC3 GPC4 GPR35 GTF2E2 GTF2H5 GTPBP3 GYG1 HACD1 HADH HADHA HELLS HGSNAT HIBCH HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 HSD17B10 HYOU1 IBA57 ICOS IFIH1 IFNGR1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL12A IL12RB1 IL17RA IL21 IL21R IL2RA IL2RB IL2RG IL4R IL6R IL6ST IL7R IPO8 IRAK4 IRF2BP2 IRF5 IRF8 ISCA2 ISCU ITCH ITK IVNS1ABP JAK3 JMJD1C KARS1 KCTD7 KIF23 KLHDC8B KLHL24 KNSTRN KRAS KRT14 KRT5 KRT74 KRT9 LAMTOR2 LAT LBR LCK LCP2 LEP LEPR LIAS LIG1 LIG3 LIG4 LMNA LMOD2 LRBA LRP5 LRPPRC LRRC8A LYRM4 LYRM7 MAD2L2 MAGT1 MALT1 MAN2B1 MCM10 MCM4 MCOLN1 MCPH1 MDM4 MECP2 MECR MFF MGAT2 MGME1 MIEF2 MMEL1 MMP1 MOGS MPLKIP MPV17 MRE11 MRM2 MRPL12 MRPS14 MRPS16 MRPS22 MRPS23 MRPS25 MRTFA MS4A1 MS4A2 MSN MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTFMT MTHFD1 MTO1 MTOR MTRFR MUC5B MVK MYD88 MYH14 MYH7 MYSM1 NADK2 NAE1 NARS2 NAXE NBN NCKAP1L NDRG1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEUROG3 NF2 NFE2L2 NFKB1 NFKB2 NFKBIA NFS1 NFU1 NHEJ1 NHLRC2 NKX2-5 NLRC4 NLRP1 NRAS NSMCE3 NSUN3 NUBPL OAS1 OCRL ORAI1 OTULIN PALB2 PANX1 PARN PATL2 PDGFB PDHA1 PDHB PDHX PDP1 PEPD PET100 PET117 PEX5 PEX6 PGM3 PIGK PIGM PIGT PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PLA2G7 PLCG2 PLVAP PMFBP1 PMM2 PNP PNPLA2 PNPT1 POLE POLG POLG2 POMP POT1 POU2AF1 PPM1B PREPL PRF1 PRIM1 PRKCD PSAP PSMB4 PSMB8 PSMB9 PSTPIP1 PTCD3 PTEN PTPRC PUS1 QRSL1 RAB27A RAC2 RACGAP1 RAD50 RAD51 RAD51C RAG1 RAG2 RAI1 RARS2 RASGRP1 RBM8A REL RELA RFWD3 RFX5 RFXANK RFXAP RHAG RIPK1 RMRP RNF113A RNF168 RNU4ATAC RPA1 RPL3L RREB1 RRM2B RTEL1 RYR1 SAMD9L SASH3 SCARB2 SCN4A SCO1 SCO2 SDHA SDHB SDHD SEC23B SEC24C SEMA4D SETX SFTPA2 SFTPC SFXN4 SH2D1A SH3KBP1 SHH SIK3 SKIC2 SKIC3 SLC25A10 SLC25A13 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC2A1 SLC34A1 SLC35C1 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC46A1 SLC5A6 SLC7A7 SLF2 SLX4 SMARCAL1 SMARCB1 SMARCE1 SMO SON SP110 SPG7 SPI1 SPIB SPINK5 SPPL2A SQSTM1 SRP54 STAT1 STAT2 STAT3 STAT5B STIM1 STING1 STX11 STXBP2 SUCLA2 SUCLG1 SUFU SUN5 SYK TAFAZZIN TARDBP TARS1 TBK1 TBX1 TCF3 TCF4 TCN2 TERT TET2 TFRC TGFB1 TIMM22 TIMM50 TIMM8A TIMMDC1 TINF2 TK2 TLR8 TMEM126B TMEM185A TMEM70 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF9 TNFSF12 TNFSF15 TNNI3 TNNT2 TNPO3 TOM1 TONSL TOP3A TP53 TPP1 TPP2 TRAF7 TRIP13 TRIT1 TRMT5 TRMU TRNT1 TSC1 TSFM TTC19 TTC7A TTN TUBB8 TWNK TXN2 TYK2 TYMP TYMS UBE2T UFD1 UMPS UNC13D UNG UQCC2 UQCC3 UQCRB UQCRH UQCRQ UVSSA VARS2 VCL VCP VPS33A VPS45 WAS WEE2 WIPF1 WRAP53 XIAP XPA XPC XRCC2 XRCC4 YARS2 ZAP70 ZBTB24 ZCCHC8 ZEB2 ZFTA ZMPSTE24 ZNF341 ZP2 HP_ABNORMAL_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELL_MORPHOLOGY ACD ACTC1 ACTN2 ALPK3 ATXN2 CACNA1S COA5 DNAJC21 DOLK DSP GYG1 KLHL24 LIG3 LMOD2 MDM4 PANX1 PARN PATL2 PEX6 PNPLA2 POLG POT1 RELA RPA1 RPL3L RRM2B RTEL1 RYR1 TERT TINF2 TNNI3 TNNT2 TP53 TUBB8 TYMP TYMS VCL WEE2 WRAP53 ZCCHC8 ZFTA ZP2 HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION ABCD1 AKT1 ATP6AP2 BAP1 NF2 PDGFB PIK3CA PRNP SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_ABNORMAL_CEREBELLAR_CORTEX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_CORTEX_MORPHOLOGY ATP6V1B2 PNPT1 POLG TBC1D24 TWNK HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY ACY1 ADGRG1 ADPRS AFF3 AHI1 AIPL1 ALG3 ALX4 AP1S2 APC2 ARF1 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ASNS ASXL1 ASXL3 ATN1 ATP2B3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP9A ATR ATXN1 ATXN8OS B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCL11A BCOR BICD2 BLTP1 BMP4 BRF1 BUB1 BUB1B BUB3 C2CD3 CACNA1A CACNA1G CACNA2D2 CBY1 CC2D2A CCDC22 CCDC32 CDC42 CDC42BPB CDKN1C CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP57 CHD7 CHP1 CNTNAP2 COG1 COL4A1 COX20 CPLANE1 CPSF3 CPT2 CRB1 CRPPA CRX CSF1R CSPP1 CUL4B CWF19L1 DAB1 DAG1 DCHS1 DDX3X DENND5A DHCR7 DLG4 DOK7 DPF2 DPH1 DPH2 DPH5 DPYSL5 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP ELOVL5 EPG5 ESCO2 EVC EVC2 EXOC2 EXOSC8 FA2H FAM149B1 FAR1 FAT4 FDXR FGFR1 FIG4 FKRP FKTN FLVCR2 FOXC1 FRMD4A FTO GDF6 GEMIN4 GJB1 GJB2 GJB6 GLI3 GMPPB GOT2 GPC3 GPC4 GRIA3 GRID2 GRM1 GTPBP2 GUCY2D H3-3A HHAT HNRNPH1 HNRNPR HRAS HTT HYLS1 IFT140 IFT172 IFT74 IFT80 IGF2 IMPDH1 INPP5E INPP5K INTS1 IQCB1 ITPR1 KATNIP KCNJ13 KCNQ1 KCNQ1OT1 KIAA0586 KIAA0753 KIF14 KIF1A KIF21A KIF5A KIF7 KNL1 KPNA3 KRAS L1CAM LAMA1 LAMB1 LARGE1 LCA5 LETM1 LMX1B LNPK LRAT LRPPRC LRRC32 MAB21L1 MACF1 MAN2C1 MAPKAPK5 MARS2 MAST1 MBD5 MDH1 MED11 MEF2C MID1 MKS1 MME MPL MRE11 MTM1 MUSK MVK MYO5A MYOD1 NCAPG2 NEK1 NMNAT1 NOP56 NPHP1 NPHP3 NPTX1 NRAS NSD1 NSRP1 NUP37 NUP88 ODC1 OFD1 OPA1 OPHN1 PACS1 PACS2 PAFAH1B1 PCGF2 PCYT1A PDE6D PEX16 PEX2 PGAP1 PGAP2 PHGDH PI4KA PIBF1 PIEZO2 PIGN PIGS PIGU PIK3R5 PLCH1 PLG PLP1 PMM2 PMPCA POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1CB PPP1R21 PRDM13 PRKCG PRKDC PSAT1 PTEN PTF1A PUM1 QARS1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAPSN RARS2 RBM10 RBM8A RD3 RDH12 RERE RFC1 RFX7 RNF113A RNU12 RNU4ATAC ROBO1 RPE65 RPGRIP1 RPGRIP1L RXYLT1 SACS SASS6 SCYL1 SEMA3E SEMA6B SEPSECS SETD2 SETX SIL1 SLC18A3 SLC25A19 SLC25A24 SLC35A2 SLC39A8 SLC9A1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 SPATA7 SRD5A3 SRPX2 STXBP1 SUFU SYT14 SYT2 TAF1 TBC1D20 TBC1D24 TBCK TCTN1 TCTN2 TCTN3 TDP1 TFAP2A THG1L THOC2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM240 TMEM67 TOGARAM1 TOPORS TRAPPC9 TRIP13 TRPC3 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBB4B TULP1 TXNDC15 USP45 USP9X VLDLR VPS35L VPS41 VPS4A VPS51 WARS2 WASHC5 WDR35 WDR4 WDR73 WDR81 WLS XRCC4 ZEB2 ZIC1 ZNF423 HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY ABCG5 ABCG8 ACTA2 ADAR ALDH18A1 ALG5 ALG9 ANGPTL6 APOB APP BGN BICC1 BRCC3 COL1A1 COL3A1 COL4A1 COL5A1 COL5A2 DNAJB11 ELN ENG FARSB FBN1 FOXE3 GAA GANAB GGCX GUCY1A1 HES7 HEY2 HTRA1 IFIH1 IFT140 IPO8 LDLR LDLRAP1 LOX LSM11 MAT2A MFAP5 MYH11 MYLK NDE1 NF1 NFIA PCNT PCSK9 PDE11A PDGFB PDGFRB PKD1 PKD2 PLOD3 PRKAR1A PRKCSH PRKG1 RNASEH2A RNASEH2B RNASEH2C RNF213 RNU7-1 SAMHD1 SLC20A2 SMAD2 SMAD3 SMAD4 SMARCAL1 SPTBN1 STAT1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TOM1 TONSL TREX1 HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY AARS1 ABCA7 ABCC6 ACD ACO2 ACP5 ACTB ACTG1 ACVR1 ACY1 ADAMTS3 ADAR ADARB1 ADGRG1 ADGRV1 AGTPBP1 AHDC1 AHI1 AIRE AKT3 ALDH18A1 ALG12 ALG8 ALS2 AMER1 AMPD2 ANKLE2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APOE APP ARHGAP31 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARX ASCC1 ASNS ASPM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP8A2 ATPAF1 ATPAF2 ATR ATRX ATXN2 B3GALNT2 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BAZ1B BCAP31 BCL7B BICD2 BICRA BLTP1 BMP4 BMPER BRAF BRD4 BUB1 BUD23 C2CD3 CA2 CACNA1A CACNA1E CAMSAP1 CAMTA1 CARS1 CARS2 CASK CASR CASZ1 CBY1 CCBE1 CCDC88A CCND2 CDC40 CDC42 CDH23 CDK13 CDK5 CDK5RAP2 CDK6 CDKL5 CDON CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP41 CEP63 CEP85L CHCHD10 CHMP2B CIB2 CILK1 CISD2 CIT CIZ1 CLCN4 CLCNKB CLIP2 CLN5 CLP1 CNKSR2 CNNM2 CNTNAP2 COG1 COG6 COL11A1 COL18A1 COL25A1 COL2A1 COL3A1 COL4A1 COL4A2 COLGALT1 COPB2 CPA6 CPLANE1 CPLX1 CPT2 CRADD CRPPA CSF1R CSNK2A1 CSPP1 CTC1 CTDP1 CTNNA2 CTNNB1 CTNS CTSC CTSF CTU2 CUL4B CWC27 CYB5A CYB5R3 CYP2U1 DAG1 DCHS1 DCX DDB2 DDR2 DDX3X DENND5A DEPDC5 DGUOK DHCR24 DHCR7 DHX37 DISC1 DISP1 DKC1 DLK1 DLL1 DMXL2 DNAJC13 DNAJC30 DNM1L DOCK6 DOCK7 DONSON DPAGT1 DPF2 DPM1 DYNC1H1 DYNC1I2 DYRK1A ECM1 EHMT1 EIF2AK2 EIF2B4 EIF4G1 EIF4H ELN ELOVL4 EML1 EMX2 ENPP1 EOMES EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESPN ETFA ETFB ETFDH EXOC7 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FA2H FAM111A FAM20C FARS2 FARSB FAT4 FBLN1 FBXO28 FDFT1 FDXR FGF8 FGFR1 FGFR3 FH FIG4 FKBP6 FKRP FKTN FLI1 FLVCR2 FMR1 FOXG1 FOXH1 FRAS1 FRMD5 FRMPD4 FTO FUS GABRA5 GABRD GABRG2 GAS1 GATA3 GBA1 GBA2 GCDH GDAP2 GET4 GFM2 GIGYF2 GJA1 GLI2 GLS GLYCTK GMNN GMPPB GNA11 GNAO1 GNAQ GNAS GNB1 GNPTAB GOLGA2 GON7 GPHN GPKOW GPSM2 GPX4 GRIA3 GRIA4 GRIN1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HCN1 HDAC8 HERC1 HEXB HIC1 HIVEP2 HLA-DQA1 HLA-DQB1 HNF1B HRAS HSD17B10 HSD17B4 HSPG2 HYLS1 IARS2 IBA57 IER3IP1 IFIH1 IFNG IFT74 IKBKG INPP5E IRF8 ISCA1 ISG15 JAM2 JPH3 KARS1 KAT5 KAT6B KATNB1 KATNIP KCNA1 KCNAB2 KCNT1 KDM6A KIAA0586 KIAA0753 KIF11 KIF14 KIF1A KIF21A KIF26A KIF2A KIF5C KIFBP KL KLHL15 KMT2D KNL1 KRAS KRIT1 LAGE3 LAMA2 LAMB1 LAMC3 LARGE1 LIMK1 LIPT2 LMNB1 LMNB2 LONP1 LRPPRC LRRK2 LSM11 LUZP1 MACF1 MAF MAGEL2 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAPK8IP3 MAPT MARS2 MAST1 MBD5 MBOAT7 MBTPS2 MCM7 MCPH1 MDH2 MECP2 MED11 MED27 MEF2C MEG3 METTL27 METTL5 MFSD2A MGP MICU1 MINPP1 MKS1 MLXIPL MLYCD MMACHC MMADHC MMP23B MN1 MPDZ MPLKIP MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTOR MTRR MUC1 MVK MYMK MYMX MYO5A MYO7A MYORG NANS NARS1 NCAPD3 NCF1 NDE1 NDN NDP NDUFA6 NDUFA8 NEDD4L NEK1 NEUROD2 NEXMIF NFIX NHP2 NIPA1 NIPA2 NIPBL NODAL NOP10 NOVA2 NPHP1 NPM1 NPRL2 NPRL3 NRAS NSDHL NSMCE3 NSRP1 NUP107 NUP133 NUP37 NUS1 OCA2 OCLN ODC1 OFD1 OPA1 OPHN1 OSGEP OTUD6B PAFAH1B1 PAH PARN PARS2 PAX6 PC PCDH15 PCDHGC4 PDCD6IP PDE6D PDGFB PDGFRB PDHA1 PDHB PDPN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PHACTR1 PHC1 PHGDH PHOX2A PI4KA PIBF1 PIDD1 PIGA PIGB PIGL PIGN PIGP PIGQ PIGS PIGV PIK3CA PIK3R2 PLAA PLK4 PLP1 PNKP POGZ POLG2 POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POT1 POU4F1 PPFIBP1 PPIL1 PPP1R12A PPP2R2B PRDM16 PRDX1 PRKCZ PRKDC PRNP PRUNE1 PSAT1 PSEN1 PSEN2 PSMB8 PSMG2 PTCH1 PTCH2 PTDSS1 PTEN PTH PUS3 PYCR2 QARS1 QDPR RAB18 RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RARS2 RECQL4 RELN RERE RFC2 RFT1 RHOBTB2 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNU12 RNU4ATAC RNU7-1 ROBO1 RPGRIP1L RPS6KA3 RTEL1 RTL1 RTTN RXYLT1 SACS SAMHD1 SARS1 SASS6 SC5D SCN1A SCN1B SCN2A SCN3A SCN9A SCO2 SCYL2 SEPSECS SETBP1 SF3B4 SHH SHMT2 SHQ1 SIK1 SIN3A SIN3B SIX3 SKI SLC12A2 SLC12A3 SLC20A2 SLC25A15 SLC25A19 SLC25A22 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC30A9 SLC32A1 SLC35A2 SLC35C1 SLC39A4 SLC39A8 SLC46A1 SLC4A4 SLC5A6 SLC9A6 SLITRK2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMPD4 SNAP29 SNCA SNORD118 SNRPB SNRPN SNX14 SON SORL1 SOX11 SOX4 SPATA5 SPEN SPG11 SPG7 SPOP SPTAN1 SQSTM1 SRD5A3 SRPX2 STAMBP STAT2 STIL STS STUB1 STX1A STX1B SUCLA2 SUFU SUZ12 SYNJ1 TAF13 TARDBP TARS1 TBC1D20 TBC1D24 TBCD TBK1 TBL1XR1 TBL2 TBR1 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TERC TERT TGIF1 TINF2 TMCO1 TMEM106B TMEM147 TMEM218 TMEM222 TMEM237 TMEM270 TMEM67 TMEM70 TMTC3 TMX2 TNFRSF11A TOGARAM1 TOMM40 TP53RK TP73 TPRKB TRAIP TRAK1 TRAPPC10 TRAPPC12 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRMT10C TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TTC19 TTC5 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TWNK TYMS TYROBP UBE3A UBE4B UBTF UGP2 USB1 USH1C USH1G USH2A USP18 USP9X VAC14 VARS1 VCP VIPAS39 VLDLR VPS13A VPS13C VPS33A VPS33B VPS35 VPS37A VPS37D VPS4A VRK1 WARS1 WDR26 WDR4 WDR62 WDR73 WFS1 WHRN WRAP53 WT1 WWOX XPA XPC XPR1 XRCC4 YRDC YWHAE YY1 ZBTB20 ZEB2 ZIC2 ZNF335 ZNF526 ZNFX1 ZNHIT3 ZSWIM6 HP_ABNORMAL_CEREBRAL_SUBCORTEX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_SUBCORTEX_MORPHOLOGY AARS1 AARS2 ABAT ABCC9 ABCD1 ABHD16A ACADS ACER3 ACO2 ACOX1 ACP5 ACTA2 ACTB ACTG1 ACTL6B ACVR1 ACY1 ADAR ADARB1 ADAT3 ADCY5 ADGRG1 ADH1C ADNP ADORA2A ADSL AGO1 AGTPBP1 AHCY AHDC1 AHI1 AHSG AIFM1 AIMP1 AIMP2 AKT3 ALDH18A1 ALDH6A1 ALDH7A1 ALG11 ALG12 ALG2 ALG3 ALG8 ALX1 ALX3 ALX4 AMER1 AMFR AMPD2 AMT ANKLE2 ANKRD11 AP1G1 AP1S2 AP2M1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSA ARSI ARV1 ARX ASNS ASPA ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATL1 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP8A2 ATP9A ATPAF2 ATR ATRX ATXN2 ATXN3 ATXN8OS AUH B3GALNT2 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BCAP31 BCAS3 BCL11B BCOR BICD2 BLTP1 BMP4 BPTF BRAF BRAT1 BRF1 BRPF1 BSCL2 BUB1 BUB1B BUB3 C12orf57 C19orf12 C2CD3 C2orf69 CA2 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1I CACNA2D1 CAMK2A CAMLG CAMSAP1 CARS1 CARS2 CASK CASR CASZ1 CBY1 CC2D2A CCDC174 CCDC47 CCDC88A CCND2 CD96 CDC40 CDC42 CDC42BPB CDH2 CDK10 CDK13 CDK19 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDON CELF2 CENPE CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP290 CEP41 CEP57 CEP63 CEP85L CFC1 CHD3 CHKA CHMP1A CHMP2B CILK1 CIT CLCN3 CLCN4 CLN5 CLN8 CLP1 CLPB CLTC CNBP CNKSR2 CNOT1 CNOT3 CNP CNTNAP1 CNTNAP2 COASY COG2 COG4 COG5 COG6 COG7 COL4A1 COPB2 COQ8A COX15 COX7B CP CPLANE1 CPLX1 CPSF3 CPT2 CREBBP CRIPT CRLS1 CRPPA CSF1R CSPP1 CTBP1 CTNNA2 CTNNB1 CTNS CTSK CTU2 CUL4B CWF19L1 CYB5A CYB5R3 CYFIP2 CYP11A1 CYP27A1 CYP2U1 CYP7B1 D2HGDH DACT1 DAG1 DALRD3 DARS1 DARS2 DCC DCDC2 DCHS1 DCX DDB1 DDHD2 DDX3X DDX59 DDX6 DEAF1 DEGS1 DENND5A DHCR24 DHCR7 DHDDS DHX16 DIAPH1 DIS3L2 DISC1 DISP1 DLAT DLL1 DLL4 DMXL2 DNAJB4 DNAJC19 DNAL4 DNM1 DNM1L DNMT1 DOCK6 DOCK7 DOHH DONSON DPAGT1 DPF2 DPH1 DPH2 DPM2 DPM3 DPYD DPYS DPYSL5 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EARS2 EBP ECHS1 EDEM3 EEF1A2 EFNB1 EHMT1 EIF2AK2 EIF2B4 EIF2B5 EIF2S3 EMC1 EML1 EMX2 ENTPD1 EOGT EOMES EP300 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ETHE1 EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC8 EXOSC9 EXTL3 FA2H FAM111A FAM149B1 FANCB FANCD2 FANCI FAR1 FARS2 FARSA FASTKD2 FAT4 FBP2 FBXL4 FBXO28 FBXO7 FBXW11 FCSK FDFT1 FDXR FGF12 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLVCR2 FOXA2 FOXG1 FOXH1 FOXP2 FRA10AC1 FRMD4A FRMPD4 FTL FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB1 GABRB2 GABRD GABRG2 GAD1 GALC GALNT2 GAS1 GATA3 GATAD2B GBA1 GBA2 GBE1 GCDH GCH1 GDF1 GET4 GFAP GFER GFM1 GFM2 GGT1 GJA1 GJB1 GJC2 GLB1 GLDC GLI2 GLI3 GLRX5 GLUD2 GLUL GLYCTK GM2A GMPPB GNA11 GNAO1 GNAS GNB2 GNPTAB GOLGA2 GON7 GOT2 GPC3 GPC4 GPKOW GPSM2 GPT2 GPX4 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GRN GSX2 GTF2E2 GTF2H5 GTPBP2 GTPBP3 H1-4 H3-3A HACE1 HCCS HCN1 HDAC4 HECTD4 HECW2 HEPACAM HERC1 HESX1 HHAT HIBCH HIC1 HID1 HIKESHI HIVEP2 HK1 HMGCL HNRNPK HNRNPR HNRNPU HPDL HRAS HS2ST1 HSD17B10 HSD17B4 HSPA9 HSPG2 HTRA1 HTRA2 HTT HUWE1 HYCC1 HYLS1 IBA57 IDH1 IDS IER3IP1 IFIH1 IFT140 IFT27 IFT52 IFT74 IFT80 IGBP1 IGF1R IMPDH2 INPP5E IQSEC2 IREB2 IRF2BPL ISCA2 ISG15 ITGB6 ITPR1 JAM2 JPH3 KANSL1 KARS1 KAT5 KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNK4 KCNMA1 KCNN2 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM3B KDM4B KDM5B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF1C KIF26A KIF2A KIF5A KIF5C KIF7 KIFBP KMT2A KMT2B KMT2C KMT2E KNL1 KPNA3 KRAS L1CAM L2HGDH LAMA1 LAMA2 LAMB1 LARGE1 LEMD2 LETM1 LHX3 LHX4 LIG3 LIG4 LIPT1 LIPT2 LMBR1 LMBRD2 LMNB1 LMNB2 LMX1B LNPK LONP1 LRP12 LRP2 LRPPRC LRRC32 LRRK2 LSM11 LSS LUZP1 LYRM7 LYSET MACF1 MAF MAG MAN2B1 MAN2C1 MAP1B MAP2K2 MAPK8IP3 MAPKAPK5 MAPRE2 MAPT MAST1 MAST3 MBTPS2 MCM7 MCOLN1 MCPH1 MDH1 MDH2 MECR MED12 MED12L MED23 MED25 MED27 MEF2C METTL5 MFF MFSD2A MICU1 MID1 MINPP1 MKS1 MLC1 MLH1 MMACHC MMP23B MMUT MOCS1 MOCS2 MOGS MORC2 MPDZ MPLKIP MRM2 MRPL12 MRPS16 MRPS22 MRPS25 MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFR MTHFS MTOR MTRFR MTRR MYL9 MYORG MYT1L NAA10 NACC1 NADK2 NAE1 NAGA NALCN NANS NARS1 NARS2 NAXD NAXE NCAPD3 NDE1 NDUFA2 NDUFA6 NDUFA8 NDUFA9 NDUFAF5 NDUFAF6 NDUFB11 NDUFB7 NDUFC2 NDUFS1 NDUFS4 NECAP1 NEDD4L NEK1 NELFA NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NHLRC2 NKX2-1 NKX6-2 NMNAT1 NODAL NONO NOTCH1 NOTCH3 NOVA2 NPHP1 NR2F1 NR4A2 NRAS NRCAM NRROS NSD1 NSD2 NSRP1 NSUN2 NSUN3 NT5C2 NTN1 NTRK2 NUDT2 NUP188 NUP37 NUP54 NUP62 NUS1 OCA2 OCRL ODC1 OFD1 OGDHL OPA1 OPHN1 OSGEP OSTM1 OTUD5 OTUD6B OTX2 PACS2 PAFAH1B1 PAH PAK1 PANK2 PARS2 PAX6 PC PCGF2 PCLO PCNT PDE10A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDHB PDHX PDP1 PDPN PDSS2 PDYN PEX1 PEX10 PEX16 PEX2 PGAP1 PGAP2 PGAP3 PHC1 PHGDH PI4KA PIBF1 PIEZO2 PIGA PIGB PIGG PIGH PIGL PIGN PIGP PIGQ PIGU PIK3C2A PIK3CA PIK3R2 PITX1 PLA2G6 PLAA PLCB1 PLCH1 PLEKHG2 PLK4 PLP1 PLPBP PLXNA1 PMS2 PNKP PNPT1 POGZ POLG POLG2 POLR1C POLR2A POLR3A POLR3B POLR3GL POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU3F3 PPFIBP1 PPIL1 PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PRDM16 PRF1 PRKCZ PRKDC PRKN PRMT7 PRNP PROKR2 PROP1 PRORP PRPS1 PRR12 PRRX1 PRUNE1 PSAP PSAT1 PSEN1 PSMB8 PSMG2 PTCH1 PTDSS1 PTEN PTPN23 PUF60 PUS3 PYCR1 PYCR2 QARS1 RAB11B RAB18 RAB23 RAB39B RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD51 RAI1 RALGAPA1 RANBP2 RARS1 RB1 RBL2 RBM10 RBPJ RECQL4 RELN REPS1 RERE RFT1 RFWD3 RHOBTB2 RIN2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF168 RNF220 RNU12 RNU4ATAC RNU7-1 ROBO1 RORA RPGRIP1 RPGRIP1L RPL10 RPS6KA3 RRM2B RSPO2 RSPRY1 RTTN RUSC2 RXYLT1 SACS SALL1 SAMD9L SAMHD1 SARS1 SASS6 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCO2 SCYL2 SDHB SEC31A SELENOI SEPSECS SETBP1 SETD2 SF3B2 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIK1 SIN3A SIN3B SIX3 SIX6 SKI SLC12A2 SLC12A5 SLC12A6 SLC13A3 SLC13A5 SLC18A3 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A10 SLC25A15 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC32A1 SLC35A2 SLC35B2 SLC38A3 SLC39A14 SLC44A1 SLC46A1 SLC5A6 SLC6A8 SLC6A9 SLC9A6 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG8 SMG9 SMO SNAP29 SNCA SNCAIP SNIP1 SNORD118 SNX14 SON SOX10 SOX11 SOX2 SOX3 SOX4 SPATA5 SPATA5L1 SPEN SPG11 SPG21 SPG7 SPTAN1 SPTBN4 SQSTM1 SRPX2 SSR4 STAG2 STAMBP STAT2 STIL STRADA STUB1 STX11 STXBP1 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SUMF1 SUOX SUPT16H SUZ12 SVBP SYNE1 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TACO1 TAF1 TAF13 TAF2 TAF8 TARS1 TARS2 TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBP TCF12 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TET3 TGFB1 TGIF1 THOC2 THOC6 THUMPD1 TIAM1 TIMM50 TIMM8A TK2 TM4SF20 TMCO1 TMEM106B TMEM107 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM260 TMEM67 TMEM70 TMTC3 TMX2 TNR TOE1 TOGARAM1 TOPORS TP73 TPRKB TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIP13 TRMT1 TRMT10A TRPM3 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TTC5 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBG1 TUBGCP2 TWNK TXNDC15 TYMP TYROBP UBA1 UBA5 UBE2A UBE3A UBE3B UBE3C UBE4B UBTF UFC1 UGP2 UNC13D UNC80 UPF3B UQCC3 USP7 USP8 USP9X VAC14 VAMP2 VANGL2 VARS1 VARS2 VAX1 VCP VPS11 VPS13A VPS13B VPS13D VPS16 VPS41 VPS4A VPS50 VPS51 VPS53 VRK1 VWA3B WAC WARS1 WARS2 WDR26 WDR35 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WLS WNT3 WT1 WWOX XPR1 YARS1 YIF1B YWHAE YWHAG YY1 ZBTB18 ZBTB20 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZNF148 ZNF335 ZNF423 ZNF462 ZNF526 ZNF699 ZNHIT3 ZSWIM6 HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY ABCC6 ABCG5 ABCG8 ACAD9 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 ADAR AGXT AIRE AKT1 ALDH18A1 ALG2 ALG5 ALG9 ALOX5AP ALPL ALX4 AMACR ANGPTL6 ANTXR1 APOB APP ASS1 ASXL2 ATP2B1 ATP7A ATRX B3GALT6 BAP1 BAZ1B BCL7B BGN BICC1 BICD2 BRAF BRCC3 BUD23 CACNA1D CALR CBS CCDC8 CCM2 CCND1 CD109 CD46 CDH23 CFH CFI CHMP2B CITED2 CLCN2 CLCN3 CLIP2 COL1A1 COL3A1 COL4A1 COL4A2 COL5A1 COL5A2 COLGALT1 CPS1 CPT2 CST3 CUL7 CYP11B1 CYP11B2 CYP26C1 DCX DHPS DIAPH1 DLST DNAJB11 DNAJC30 DNM2 DNMT3A DOCK8 DPAGT1 DPM3 DYRK1B EDN1 EIF4H ELN ENG ENPP1 EPAS1 EPHB4 EPOR ERCC6 ERCC8 EXT2 F10 F13A1 F13B F2 F5 F7 F8 FARSB FBN1 FCGR2C FGA FGB FGG FH FHOD3 FKBP6 FLNA FLNC FN1 FOXE3 GAA GANAB GATA2 GATA4 GATA6 GBA1 GCDH GDF2 GGCX GLA GNAI3 GNAQ GNB2 GP1BA GP1BB GRN GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 GYS1 H3-3A H4C9 HADHB HBB HELLPAR HES7 HEY2 HSD11B2 HTRA1 IFIH1 IFT140 IKBKG IL6 IPO8 ITGA2 ITGA2B ITGB3 IVD JAG1 JAK2 KANSL1 KCNJ5 KIF1B KIF20A KMT5B KRAS KRIT1 LDLR LDLRAP1 LIG3 LIMK1 LMAN1 LMBRD1 LMNA LMOD2 LOX LRPPRC LSM11 MAPT MARS2 MAT2A MAX MCCC1 MCCC2 MCFD2 MDH2 MECP2 METTL27 MFAP5 MLXIPL MMACHC MMUT MPL MSX2 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MYBPC3 MYD88 MYH11 MYH6 MYLK MYPN NAGA NAGS NCF1 NDE1 NDUFA8 NF1 NF2 NFIA NGLY1 NKX2-5 NOS3 NOTCH3 NPPA NR3C1 OBSL1 ODC1 OTC PAFAH1B1 PCCA PCCB PCNT PCSK9 PDCD10 PDE11A PDGFB PDGFRB PET100 PIGA PIK3C2A PIK3CA PKD1 PKD2 PLCB4 PLIN1 PLOD3 PLXNA1 PMM2 PNP POLR3F PRKAR1A PRKCH PRKCSH PRKG1 PRNP PROC PROS1 PSEN1 PTEN RASA1 RBM10 RET RFC2 RFT1 RIN2 RNASEH2A RNASEH2B RNASEH2C RNF168 RNF213 RNU7-1 RPL10 SAMD9 SAMHD1 SCN5A SDHA SDHAF2 SDHB SDHC SDHD SERPINE1 SERPINF2 SH2B3 SIAH1 SIN3A SLC19A2 SLC20A2 SLC25A11 SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SMARCB1 SMARCE1 SMO SNAP29 SNORD118 SON SPARC SPTBN1 STAT1 STAT2 STIM1 STT3A STX1A SUFU TANGO2 TBL2 TBX20 TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 THSD4 TLL1 TMEM106B TMEM127 TMEM237 TMEM270 TNNI3 TNNT2 TNXB TOM1 TONSL TP53 TPP2 TRAF7 TREM2 TREX1 TRPV6 TTR USP18 USP48 USP8 VCP VHL VPS37D WAS WFS1 WIPF1 WRN XYLT1 XYLT2 ZAP70 ZMPSTE24 ZSWIM6 HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY ALX4 EDN1 EPHB4 GNAI3 MSX2 PLCB4 RASA1 HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY AARS1 AARS2 ABCD1 ACD ACP5 ACTA2 ACTB ACTG1 ADAR ADAT3 ADGRG1 ADNP AFF3 AHCY AHI1 AKT1 AKT3 ALDH6A1 ALDH7A1 ALG12 ALG13 ALG2 ALG3 ALG8 ALPK3 AMER1 AMPD2 ANKLE2 ANKRD11 ANTXR1 AP1S2 AP4B1 AP4E1 AP4M1 APC2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARSB ARSI ARVCF ARX ASNS ASPM ASXL1 ASXL2 ASXL3 ATP11A ATP1A1 ATP1A3 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATXN1 ATXN2 ATXN3 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BAP1 BCAP31 BCOR BGN BICD2 BICRA BLTP1 BMP2 BMP4 BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 C12orf57 C2CD3 CARS1 CASK CASZ1 CBY1 CC2D2A CCDC103 CCDC174 CCDC22 CCDC39 CCDC40 CCDC65 CCDC88A CCDC88C CCL2 CCND2 CCNO CDC40 CDC42 CDC42BPB CDCA7 CDK5RAP2 CDK6 CDKN1C CDKN2A CDON CELF2 CENPE CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP290 CEP41 CEP57 CEP63 CEP83 CFAP221 CFAP298 CFAP300 CFAP43 CFAP74 CHD3 CHD4 CHD7 CHEK2 CHST14 CHST3 CILK1 CIT CLCN3 CLCN4 CLCN7 CLIC2 CLP1 CLTC COASY COG1 COG4 COG5 COG6 COG8 COL18A1 COL3A1 COL4A1 COL4A2 COMT COPB2 COX16 COX20 COX6B1 COX7B COX8A CPLANE1 CPLX1 CPT2 CRB2 CREBBP CRPPA CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CTCF CTDP1 CTNNA2 CTNNB1 CTSC CTSF CUL4B CUX1 CYFIP2 CYP26C1 D2HGDH DAG1 DCC DCHS1 DCX DDX3X DEAF1 DENND5A DHCR24 DHCR7 DHX30 DHX37 DIAPH1 DISC1 DISP1 DKC1 DLL1 DLL4 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNM1 DNMT1 DNMT3A DNMT3B DOCK6 DOHH DOK7 DONSON DPF2 DPH1 DPH2 DPM1 DPYSL5 DRC1 DSE DTYMK DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBP EHMT1 EIF2B4 EIF2B5 EIF2S3 EMG1 EML1 EOGT EOMES EP300 EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERMARD ESCO2 EVC EVC2 EXOC2 EXOC8 EXT1 EXTL3 EZH2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBN1 FBP1 FBXL4 FBXO28 FBXW11 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLI1 FLII FLNA FLVCR2 FOXF1 FOXH1 FOXJ1 FOXP3 FOXRED1 FRA10AC1 FRAS1 FTO FUZ GABBR2 GABRD GALC GAN GAS1 GAS2L2 GAS8 GBA1 GCDH GET4 GFAP GFM2 GJB2 GJB6 GLB1 GLI2 GLI3 GLUL GMPPB GNAO1 GNAQ GNAS GNB2 GON7 GOSR2 GP1BB GPC3 GPC4 GPSM2 GRIA3 GRIK2 GRIN1 GRIP1 GRM1 GRN GTF2E2 GTF2H5 GTPBP2 GUSB H1-4 H3-3A H4C9 HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HECW2 HELLS HEPACAM HERC1 HERC2 HES7 HIBCH HIRA HK1 HNRNPH1 HNRNPK HNRNPU HRAS HS6ST2 HSD17B4 HSPG2 HTRA2 HTT HUWE1 HYDIN HYLS1 IARS2 IBA57 IDH1 IDS IDUA IFIH1 IFNG IFT140 IFT172 IFT43 IFT74 IFT80 IGF2 INPP5E INTU IQSEC2 IRF4 ISCA1 ITPR1 JAM2 JAM3 JMJD1C KANK1 KANSL1 KAT6B KAT8 KATNB1 KATNIP KCNAB2 KCNJ6 KCNK4 KCNN2 KCNQ1 KCNQ1OT1 KCTD1 KDM1A KDM4B KDM6A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF1A KIF21A KIF26A KIF5A KIF7 KIFBP KLHL15 KMT2C KMT2D KMT5B KNL1 KNSTRN KPNA3 KPTN KRAS KRT14 KRT5 L1CAM LAGE3 LAMA1 LAMB1 LARGE1 LETM1 LIG4 LIPT1 LIPT2 LMBR1 LMNB1 LMNB2 LONP1 LRRC32 LRRC56 LSM11 LUZP1 MAB21L1 MAD2L2 MAF MAG MAGEL2 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAPKAPK5 MAPRE2 MARS2 MAST1 MBTPS2 MC1R MCIDAS MCM7 MCPH1 MDM2 MED12 MED25 MEF2C METTL5 MFN2 MFSD2A MID1 MINPP1 MKRN3 MKS1 MMACHC MMP23B MOCS1 MOCS2 MPDU1 MPDZ MPLKIP MRE11 MRPS16 MSL3 MT-ATP6 MT-CYB MTHFR MTHFS MTM1 MTOR MTRR MUSK MYMK MYMX MYOD1 MYORG MYT1L NAA10 NADK2 NAE1 NANS NAXD NAXE NCAPD3 NCAPG2 NDE1 NDN NDST1 NDUFA6 NDUFA8 NDUFB11 NDUFS2 NDUFS8 NEDD4L NEK1 NEK10 NEU1 NEXMIF NF1 NF2 NFIA NFIB NFIX NGLY1 NHLRC2 NIPA1 NIPA2 NIPBL NKX3-2 NME5 NME8 NODAL NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NPHP1 NPHP3 NRAS NRCAM NSD1 NSD2 NSUN2 NUP107 NUP133 NUP188 NUP37 NUP88 OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OGDHL OPHN1 OSGEP OSTM1 OTUD5 OTUD6B P4HB PAFAH1B1 PAK2 PAK3 PALB2 PARN PAX6 PCDH19 PCNT PDE2A PDE6D PDGFB PDGFRB PDHA1 PDHB PDHX PDPN PEX1 PEX10 PEX19 PEX2 PGAP1 PGAP2 PGAP3 PHACTR1 PHC1 PHGDH PI4KA PIBF1 PIEZO2 PIGA PIGB PIGG PIGN PIGO PIGQ PIGU PIGV PIK3CA PIK3CD PIK3R2 PLAA PLCH1 PLG PLOD3 PLPBP PLXNA1 PMM2 PMPCA PNKP POLR2A POLR3A POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPFIBP1 PPIL1 PPP1CB PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP2R5D PRDM16 PRDX1 PRKAG2 PRKAR1A PRKCZ PRNP PSAP PSAT1 PTCH1 PTCH2 PTDSS1 PTEN PTPN23 PUF60 PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QARS1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAI1 RAPSN RASA1 RBPJ RECQL4 RERE RFWD3 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF213 RNU12 RNU4ATAC RNU7-1 ROBO1 ROGDI RPGR RPGRIP1 RPGRIP1L RPS6KA3 RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTEL1 RTTN RXYLT1 SALL1 SAMD9 SAMHD1 SARS1 SASS6 SATB1 SCN4A SCO2 SEC24C SEC24D SEC31A SEMA3E SEPSECS SETBP1 SETD2 SF3B2 SF3B4 SH2B1 SHANK3 SHH SHMT2 SHOC2 SHPK SHQ1 SIK3 SIM1 SIN3A SIN3B SIX3 SKI SLC12A6 SLC13A5 SLC17A5 SLC18A3 SLC20A2 SLC25A1 SLC25A19 SLC25A24 SLC29A3 SLC2A1 SLC31A1 SLC35A2 SLC39A8 SLC6A9 SLC9A6 SLITRK2 SLX4 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SNIP1 SNORD115-1 SNORD116-1 SNRPN SNX10 SON SOX11 SOX2 SOX4 SOX9 SPAG1 SPATA5L1 SPEF2 SPEN SPG11 SPRED2 SPTBN1 STAC3 STAG2 STIL STK36 STRADA SUCLA2 SUFU SUMF1 TAF1 TAF13 TAF2 TAF8 TAOK1 TAPT1 TARS1 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBCK TBL1XR1 TBX1 TBX15 TBXT TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TERT TET3 TGDS TGFBR1 TGFBR2 TGIF1 THOC2 THOC6 TIMMDC1 TINF2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM67 TMTC3 TMX2 TNFRSF11A TNFSF11 TNNI3 TNPO2 TOE1 TOGARAM1 TP53 TP53RK TPRKB TRAF7 TRAIP TRAPPC10 TRAPPC12 TRAPPC14 TRAPPC6B TREM2 TREX1 TRIM37 TRIM71 TRIP13 TRMT1 TRNT1 TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TTC12 TTC26 TTC5 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBG1 TUBGCP2 TXN2 TXNDC15 TYROBP UBE2T UBE3B UBE4B UBTF UFD1 UGDH UNC45A USP18 USP7 USP9X VAC14 VANGL1 VANGL2 VPS11 VPS13A VPS33A VPS35L VPS37A VPS51 VPS53 VRK1 VSX1 WAC WARS1 WARS2 WASF1 WASHC5 WDR26 WDR35 WDR4 WDR45B WDR62 WDR73 WDR81 WLS WNT3 XPR1 XRCC2 XRCC4 YARS1 YIPF5 YME1L1 YRDC YWHAE YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMYND10 ZNF148 ZNF292 ZNF335 ZNF423 ZNF462 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_CEREBROSPINAL_FLUID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBROSPINAL_FLUID_MORPHOLOGY AASS ABHD5 ADAR ADK AHI1 AIFM1 AKT1 AKT3 ALDH4A1 ALDH5A1 ALDH7A1 ALG13 AMER1 AMT AP1S2 ARHGAP31 ARL13B ARL3 ARMC9 ARSA ARSB ARVCF ASL ASPA ATP1A2 ATP5PO ATPAF2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BAP1 BCAT2 BICD2 BICRA BLTP1 BOLA3 BRAF BRCA1 BRCA2 BRIP1 BTNL2 BUB1B CACNA1A CBY1 CC2D2A CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCDC88C CCL2 CCND2 CCNO CD59 CDC40 CDC42BPB CDCA7 CDON CEBPE CENPF CEP104 CEP120 CEP290 CEP41 CEP83 CFAP221 CFAP298 CFAP300 CFAP43 CFAP74 CHST3 CILK1 CLCN3 CLCN7 CLIC2 CLPB COA8 COG6 COL18A1 COL4A1 COMT COPB2 COQ8A COX10 COX11 COX14 COX20 COX4I1 COX6B1 COX7B COX8A CPLANE1 CPLX1 CPT1C CPT2 CRB2 CRPPA CRTAP CSF1R CSPP1 CTBP1 CTNNA2 CTNNB1 CYP26C1 DAG1 DARS2 DCC DDC DENND5A DHCR24 DHCR7 DHFR DISP1 DLAT DLD DLL1 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNM1L DNMT1 DNMT3B DOCK6 DPH1 DPH2 DPYSL5 DRC1 EBP ECHS1 EGR2 EML1 EOGT EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 EXOSC2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FBN1 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKRP FKTN FLNA FLVCR2 FOXH1 FOXJ1 FOXRED1 FRAS1 FTL FTO FUZ GALC GAS1 GAS2L2 GAS8 GBA1 GBE1 GCDH GCH1 GFAP GFM1 GFM2 GLI2 GLI3 GLUL GLYCTK GMPPB GNAQ GP1BB GPC3 GPC4 GPSM2 GRIK2 GRIP1 GUSB H4C9 HBA1 HBA2 HCCS HDAC6 HELLS HERC1 HES7 HIRA HLA-DQB1 HLA-DRB1 HNRNPU HPDL HRAS HSD17B10 HSPG2 HTRA2 HYDIN HYLS1 IARS2 IBA57 IDS IDUA IFIH1 IFNG IFT172 IFT43 IFT74 IGHG2 IGKC IMPDH2 INPP5E IRF3 IRF4 JMJD1C KANSL1 KARS1 KATNIP KDM4B KDM6A KIAA0586 KIAA0753 KIF1A KIF26A KIF7 KMT2D KPNA3 KRAS L1CAM LAMB1 LARGE1 LETM1 LIG3 LIG4 LMBR1 LMNB1 LMNB2 LONP1 LRPPRC LRRC56 LSM11 LYRM4 LYRM7 MAD2L2 MADD MAF MAN2B1 MAP2K1 MAP2K2 MBTPS2 MC1R MCIDAS MDH2 MECP2 MED12 MFN2 MICU1 MKS1 MMACHC MPDZ MPV17 MPZ MRPS34 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTM1 MTRR MUSK MYT1L NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK10 NEU1 NF1 NF2 NFIX NFU1 NGLY1 NKX3-2 NME5 NME8 NODAL NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NR4A2 NRAS NRCAM NSD2 NSUN2 NUBPL NUP214 OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OGDH OSTM1 P4HB PAK2 PAK3 PALB2 PDE6D PDGFB PDHA1 PDHX PET100 PET117 PEX19 PEX7 PHYH PIBF1 PIEZO2 PIGU PIGV PIK3CA PIK3R2 PLCH1 PLG PMP22 PNPLA8 PNPO PNPT1 POLG POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPIL1 PPP1CB PPP1R21 PPP2R1A PPP2R5D PRDX1 PRF1 PRKAG2 PRKAR1A PRNP PRRT2 PRX PSAP PSAT1 PTCH1 PTCH2 PTDSS1 PTEN PTS PYCR1 RAC3 RAD51 RAD51C RANBP2 RARS2 RASA1 RBPJ RECQL4 RFWD3 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF125 RNU4ATAC RNU7-1 ROBO1 ROGDI RPGR RPGRIP1 RPGRIP1L RPIA RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTN2 RXYLT1 SALL1 SAMD9 SAMHD1 SCN1A SCN4A SCO2 SEC24C SEC24D SETD2 SF3B2 SF3B4 SHH SHOC2 SIK3 SIX3 SKI SLC12A2 SLC12A6 SLC13A3 SLC13A5 SLC17A5 SLC25A19 SLC25A24 SLC25A4 SLC29A3 SLC2A1 SLC31A1 SLC33A1 SLC39A8 SLC6A3 SLX4 SMARCB1 SMARCC1 SMARCE1 SMC1A SMO SMOC1 SNX10 SOX2 SOX9 SPAG1 SPEF2 SPTBN1 STAG2 STAMBP STAT2 STIL STK36 STX11 STXBP2 SUCLA2 SUCLG1 SUFU SUMF1 SURF1 TAF2 TAOK1 TBC1D7 TBCK TBK1 TBX1 TBX15 TBXT TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TERT TET3 TGFBR1 TGFBR2 TGIF1 TH TICAM1 TIMM50 TIMMDC1 TK2 TLR3 TMEM107 TMEM126B TMEM138 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM67 TNFRSF11A TNFSF11 TOE1 TOGARAM1 TP53 TPK1 TRAF3 TRAF7 TRAPPC12 TREM2 TREX1 TRIM71 TRMT1 TRMT10C TRNT1 TRPV4 TRPV6 TSC1 TSC2 TSEN15 TSPOAP1 TTC12 TTC26 TTR TUBB3 TXN2 TXNDC15 TYMP TYROBP UBAP1 UBE2T UFD1 UNC13D UNC45A UNC93B1 UQCC2 UQCC3 USP7 VAC14 VAMP1 VANGL1 VANGL2 VPS33A VPS35L VSX1 WASHC5 WDR81 WNT3 XRCC2 ZBTB20 ZBTB24 ZIC2 ZIC3 ZMYND10 ZNF423 ZNHIT3 ZPR1 HP_ABNORMAL_CERVICAL_CURVATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_CURVATURE ARSL CHRNA1 CHRND CHRNG CHST14 DSE FLNB GZF1 HSPG2 RIPPLY2 SLC26A2 SOX9 HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY ARSL CHRNA1 CHRND CHRNG CHST14 DHX37 DSE EBP FLNB FUCA1 GLE1 GZF1 HSPG2 HTRA1 POGZ POLR3A RIPPLY2 SLC26A2 SLC35B2 SOX9 TRPV4 HP_ABNORMAL_CHEEK_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHEEK_MORPHOLOGY ACTB ACTG1 AEBP1 AFF4 AGL AIP ALX1 ALX3 ANK1 ANKRD11 ARID1B ASXL1 ATP6V0A2 ATP7A AUTS2 B3GLCT B9D1 B9D2 BCOR BICRA BMP2 BRAF BRF1 CAV1 CC2D2A CCDC22 CCDC88A CDC42BPB CDK5 CEP290 CHD7 CHN1 CITED2 CLCF1 CLCN3 COL2A1 CPE CPLX1 CREBBP CRLF1 CSPP1 CTBP1 CTNND2 CYP26C1 DACT1 DDB1 DDX3X DICER1 DLK1 DPM1 DPYD DPYSL5 DTYMK EDN1 EDNRA EEF1A2 EFEMP2 EFTUD2 EIF2AK3 EIF2S3 ELMO2 ELN EP300 EXT2 EXTL3 EYA1 FAT4 FBLN5 FBN1 FGF3 FGFR1 FGFR2 FGFRL1 FLNA FLNB FLT4 FN1 GATA4 GATA5 GATA6 GDF1 GJA5 GNAI3 GNAS GNB2 GPC3 GPC4 GPR101 GSC H1-4 H4C3 H4C5 H4C9 HEATR3 HK1 HNRNPK HNRNPU HRAS HSPG2 IARS1 IDS IDUA IER3IP1 IFT122 IFT140 IFT52 INTS1 IRX5 JAG1 KAT6A KAT6B KCNH1 KCNJ2 KDM6A KDM6B KDR KIDINS220 KIF11 KIF1A KIF7 KLHL7 KMT2B KMT2D KMT2E KRAS LARS1 LETM1 LIFR LMNA LMX1B LRP1 LRP5 LTBP1 LTBP3 MAFB MAP2K1 MAP2K2 MAP3K7 MAPK8IP3 MED12 MED13L MEG3 MID1 MITF MKS1 MLXIPL MOCS1 MOCS2 MSL3 MTHFS NAA10 NALCN NEK9 NGLY1 NKX2-5 NKX2-6 NOTCH2 NPHP3 NRAS NSD2 OCRL ODC1 PAX1 PCLO PCNT PIGB PIGN PIGQ PIGS PIK3CA PLCB4 POLR1B POLR1C POLR1D PPP1CB PPP1R15B PRMT7 PSMC3 PSPH PUF60 PURA PYCR1 RAB23 RPGRIP1 RPGRIP1L RTL1 SALL1 SALL4 SC5D SEMA3E SEMA5A SETD1A SETD1B SF3B2 SF3B4 SH3BP2 SH3PXD2B SHANK3 SIM1 SIX1 SIX5 SLC26A2 SLC29A3 SLC35A2 SLC37A4 SMARCA2 SNRPN SNX14 SON SOX11 SPECC1L SPTBN1 STAG2 STX16 STXBP1 SVBP SYK TAFAZZIN TASP1 TBCE TBL1XR1 TBX1 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TFAP2A TFE3 TGDS TMEM107 TMEM216 TMEM231 TMEM237 TMEM260 TMEM67 TRMT10A TRPM3 TUBB4A TXNDC15 TXNL4A UBE2A UBE3B UFC1 VPS13B VPS33A VPS35L WAC WASHC5 WBP11 WDR19 WDR26 WDR35 WLS XYLT2 YARS1 ZFPM2 ZNF462 ZNF668 ZNHIT3 ZPR1 HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY ABCB6 ACTB ACVRL1 ADAMTS18 AKT1 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 C12orf57 C1QTNF5 CASK CC2D2A CCDC22 CEP290 CFH CFI CHD7 CHM CHN1 CLCN2 CLDN19 COL18A1 COL4A1 COL8A2 COX7B CRB1 CRPPA CRX CSPP1 CTNNB1 CYP4V2 DACT1 DAG1 DCT DHX16 DPP6 DPYSL5 EFEMP1 EYS FKRP FKTN FSCN2 FZD4 GDF3 GRHL2 GUCA1A GUCY2D GZF1 HADHA HCCS HHAT HLA-A HLA-DRB1 HMGB3 HMX1 IFNG IKBKG INPP5E JAG1 KIF11 KRAS LARGE1 LCA5 LRAT LRP5 MAFB MAGEL2 MICOS13 MKS1 MPDZ MT-TE MT-TK MT-TL1 NAA10 NDE1 NDP NDUFB11 NRL OAT OCRL OVOL2 PAX2 PAX6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGL PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 PRPH2 PTEN RBP4 RERE RNU7-1 ROM1 RP2 RPE65 RPGRIP1 RPGRIP1L RXYLT1 SAG SALL1 SALL4 SEMA3E SHH SIM1 SIX3 SIX6 SLC25A15 SPATA7 SPTBN1 TBX22 TCTN1 TCTN2 TCTN3 TEAD1 TIMP3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TSC1 TSC2 TSPAN12 TUBGCP4 TUBGCP6 TXNDC15 UBE3B VCAN VPS13B VPS33A VPS35L VSX1 WAC WASHC5 WT1 YAP1 ZEB1 ZEB2 ZNF408 ZNF423 ZNF668 HP_ABNORMAL_CHOROID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_MORPHOLOGY ABCA4 ABCB6 ABCC6 ACTB ACVRL1 ADAMTS18 AGXT AKT1 ALDH1A3 APOE B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 C12orf57 C1QTNF5 CASK CC2D2A CCDC22 CCM2 CEP290 CFH CFHR1 CFHR3 CFI CHD7 CHM CHN1 CLCN2 CLCNKB CLDN19 CLEC3B CNGB3 COL18A1 COL4A1 COL8A2 COX7B CRB1 CRPPA CRX CSPP1 CTNNB1 CYP4V2 DACT1 DAG1 DCT DHX16 DPP6 DPYSL5 EFEMP1 ELOVL4 ENPP1 EPHA2 EYS FBLN1 FBLN5 FBN2 FKRP FKTN FSCN2 FZD4 GDF3 GNAQ GRHL2 GUCA1A GUCY2D GZF1 HADHA HCCS HHAT HLA-A HLA-DRB1 HMCN1 HMGB3 HMX1 IFNG IKBKG IMPG1 IMPG2 INPP5E JAG1 KIF11 KRAS KRIT1 LARGE1 LCA5 LRAT LRP5 MAFB MAGEL2 MAPKAPK3 MFRP MICOS13 MKS1 MPDZ MT-TE MT-TK MT-TL1 NAA10 NDE1 NDP NDUFB11 NF1 NOD2 NRL OAT OCRL OTX2 OVOL2 PAX2 PAX6 PDCD10 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGL PIK3CA PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 PROM1 PRPH2 PRSS56 PTEN RAX RBP4 RERE RLBP1 RNU7-1 ROM1 RP2 RPE65 RPGRIP1 RPGRIP1L RXYLT1 SAG SALL1 SALL4 SEMA3E SHH SIM1 SIX3 SIX6 SLC25A15 SOX2 SPATA7 SPTBN1 TBX22 TCTN1 TCTN2 TCTN3 TEAD1 TIMP3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TSC1 TSC2 TSPAN12 TUBGCP4 TUBGCP6 TXNDC15 UBE3B VCAN VPS13B VPS33A VPS35L VSX1 WAC WASHC5 WT1 XYLT1 XYLT2 YAP1 ZEB1 ZEB2 ZNF408 ZNF423 ZNF668 HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY CDKN2A CHEK2 CTSC EXOC8 FH FOXF1 GNAS IFT43 MDM2 NEDD4L NPHP3 NRAS PHGDH SETBP1 SMARCB1 TP53 ZBTB18 ZSWIM6 HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY BAP1 CYSLTR2 GNA11 GNAQ LAMB2 SF3B1 HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY ANGPTL6 COL3A1 ENG HES7 TGFBR3 THSD1 HP_ABNORMAL_CIRCULATING_ACYLCARNITINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ACYLCARNITINE_CONCENTRATION ABCD4 ACAD8 ACAD9 ACADS COX16 CPT2 ETHE1 HADH HADHA LMBRD1 LYRM7 MCEE MMACHC SLC25A20 SLC52A1 TANGO2 HP_ABNORMAL_CIRCULATING_ADRENOCORTICOTROPIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ADRENOCORTICOTROPIN_CONCENTRATION AIP AKT1 ARMC5 ATRX BAP1 BRAF CDH23 CYP11A1 CYP11B1 DAXX FOXA2 GLI2 GNAS HESX1 LHX3 LHX4 MC2R MEN1 MRAP NF2 NFKB2 NNT NR3C1 OTX2 PDE11A PDGFB PIK3CA POR POU1F1 PRKAR1A PROP1 ROBO1 SMARCB1 SMARCE1 SMO SOX3 STAR SUFU TERT TP53 TRAF7 TXNRD2 USP48 USP8 HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALBUMIN_CONCENTRATION ACSL5 ACTN4 AHCY ALB ALG1 ALG12 ALG6 ALG8 ANKFY1 ANLN AP1B1 AP1S3 APOL1 APTX ARHGAP24 ARHGDIA ATP7B B2M BMPR1A CCBE1 CD2AP CD55 COL4A3 COL7A1 COQ8B CRB2 DAAM2 DGAT1 DGKE DGUOK DHCR7 DSG1 EIF2AK3 EMP2 ERCC4 FARSA FARSB FN1 FOXP3 GAPVD1 GPR35 IARS1 IFNGR1 IL12A IL12RB1 IL36RN INF2 IRF5 IRF8 ITGA3 KRT14 KRT5 LARS2 MAGI2 MICOS13 MMEL1 MPI MST1 MTTP MYO1E MYO5B NLRC4 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PDSS2 PET100 PIK3R5 PLCE1 PLVAP PMM2 PNKP POLG2 POU2AF1 PRF1 PTEN PTPRO RNU7-1 SAR1B SCARB2 SEMA4D SETX SGPL1 SH2D1A SKIC3 SLC25A13 SLCO2A1 SMAD4 SPIB STX11 STXBP2 SYK TBC1D8B TCF4 TDP1 TFAM TKFC TNFSF15 TNPO3 TRMU TRPC6 TTC26 UNC13D VPS33A WDR4 WDR73 WT1 XIAP HP_ABNORMAL_CIRCULATING_ALDOLASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALDOLASE_CONCENTRATION ALDOA ALDOB B3GALNT2 B4GAT1 COL4A1 CRPPA DAG1 FKRP FKTN HSPG2 INPP5K LARGE1 LPIN1 MT-CO1 MT-CO3 OBSCN PFKM POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SIL1 TGFB1 HP_ABNORMAL_CIRCULATING_ALDOSTERONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALDOSTERONE AVPR2 CDKN1A CDKN1B CDKN2B CDKN2C MC2R MEN1 MRAP NNT SCNN1A SCNN1B SCNN1G HP_ABNORMAL_CIRCULATING_ALPHA_FETOPROTEIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALPHA_FETOPROTEIN_CONCENTRATION AFP ATM BCL10 CTNNB1 DGUOK EARS2 FAH FGFR3 FLI1 FOCAD ITGB4 KIF12 KIT MAD2L2 MET MKS1 NGLY1 NPHS1 NR1H4 OCRL PEX6 PIGN PIK3R5 PKD2 PKHD1 PLEC PNKP PRPS1 RNF168 SETX SLC25A13 STK11 ZBTB20 HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION AASS ABCD4 ADK AHCY ALDH18A1 ALDH4A1 ALDH5A1 AMT APP ARG1 ASL ASNS ASPA ASS1 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BCAT2 BCKDHA BCKDHB BCKDK BCS1L BOLA3 CA5A CBS CD320 COQ9 COX10 COX16 COX5A COX6B1 COX8A CPS1 CTH DBT DLD DMGDH DNM1L DTYMK FAH FBP1 FBXL4 FOCAD FTCD GAMT GCH1 GLDC GLRX5 GLS GLUL GLYCTK GNMT GPHN GUCY2D HAL HCFC1 HPD HS6ST2 IBA57 IMPDH2 IRF6 KARS1 KYNU LIG3 LIPT1 LIPT2 LMBRD1 LYRM7 MAT1A MCCC1 MCCC2 MCEE MDH1 MICOS13 MICU1 MIPEP MMAA MMAB MMACHC MMADHC MMUT MPO MRM2 MRPL3 MRPS14 MRPS2 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTHFD1 MTHFR MTO1 MTR MTRR NADK2 NAGS NDUFA13 NDUFB10 NDUFC2 NDUFS4 NFE2L2 NFS1 NFU1 NGLY1 NOS3 NR4A2 OAT OTC PAH PC PCBD1 PCCA PCCB PCK1 PDHA1 PDHX PDP1 PET117 PHGDH PLAU PNPO POLG PPM1K PRDX1 PRODH PSAT1 PSPH PTS QDPR RRM2B SARDH SCO1 SERAC1 SKIC3 SLC19A1 SLC25A13 SLC25A15 SLC25A4 SLC30A10 SLC36A2 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SPR SUCLG1 TALDO1 TARS2 TAT TDO2 TFAM TMEM126B TMEM70 TNFRSF11B TRMT10C TYMP UPB1 UQCRC2 UROC1 USP53 VARS2 HP_ABNORMAL_CIRCULATING_AMYLASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMYLASE_CONCENTRATION CNOT1 DNAJC21 EFL1 NFS1 SBDS SLC4A4 SRP54 HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL AKT1 ALG6 ALMS1 ANOS1 AR B4GALNT1 BAP1 BMP6 CDKN2A CEP112 CHD7 CLN3 CPE CTNNB1 CYB5A CYP11A1 CYP11B1 CYP17A1 DCAF17 DHH DHX37 DMRT3 DMXL2 DUSP6 ESR1 FANCM FEZF1 FGD1 FGF17 FGF8 FGFR1 FKBP6 FSHB FSHR GATA4 GCNA GNAS GNRH1 GNRHR HFE HS6ST1 HSD3B2 INSR KISS1 KISS1R LEP LEPR LGR4 LHB MAP3K1 MC2R MRAP MSH4 NDNF NF2 NFKB2 NHLH2 NNT NR0B1 NR2F2 NR3C1 NR5A1 NSMF PDGFB PIK3CA POLA1 POLR3A POR PRKAR1A PROK2 PROKR2 RBM28 SEMA3A SLC39A4 SMARCB1 SMARCE1 SMO SOX9 SPRY4 SRY STAR SUFU SYCE1 TAC3 TACR3 TAF4B TERT TP53 TRAF7 TXNRD2 VAMP7 WDR11 WNT4 WT1 WWOX ZFPM2 ZMYND15 ZNRF3 HP_ABNORMAL_CIRCULATING_ANDROSTENEDIONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROSTENEDIONE_CONCENTRATION CDKN2A CTNNB1 CYP11B1 HSD3B2 NR3C1 POR PRKAR1A TERT TP53 WNT4 ZNRF3 HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION AMH AMHR2 AR C14orf39 DHX37 ESR2 FANCM SPIDR XRCC2 HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION ABCA1 APOA1 APOC2 ATP6V0A2 ATP6V1A ATP6V1E1 CCT5 LPL MTTP HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION ALDH18A1 ARG1 ASL ASS1 ATP5F1A CA5A CPS1 PNPO SLC25A13 HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION BCS1L FAH FTCD GCH1 HPD IMPDH2 KYNU NR4A2 PAH PCBD1 PNPO PTS QDPR SLC25A13 SPR TAT TDO2 TFAM HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION AASS ABCD4 ADK AHCY ASNS CBS FAH GNMT GUCY2D LMBRD1 MAT1A MICU1 MMACHC MMADHC MTHFR MTR MTRR NADK2 PNPO PRDX1 SKIC3 SLC25A13 SLC7A7 TFAM HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL ALB B2M CIITA FTH1 RFX5 RFXANK RFXAP TF HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION ABCB11 ABCB4 ABCC2 ABCD3 ADK AKR1D1 ALDOA ALDOB AMACR ANK1 ATP7B ATP8B1 BAAT CASK CDAN1 CPOX CPT2 CYP7B1 DCDC2 DGUOK DUOX2 DUOXA2 EIF2AK3 EPB41 EPB42 FARSB FBP1 FH FOCAD G6PD GATA1 GLRX5 GPX1 GSR GYPC HBB HK1 HSD3B7 IARS1 IGF1 IL12A IL12RB1 IRF5 IYD KCNN4 KIF12 KIF23 KLF1 KMT2D LBR LIPT1 LRP5 MED12 MMEL1 MTTP MYO5B NAA10 NHLRC2 NR1H4 ODC1 OSTM1 OTX2 PAFAH1B1 PAX8 PEX14 PEX19 PEX2 PFKM PGK1 PIEZO1 PIGA PKHD1 PKLR PNPLA6 POLG2 POMC POU2AF1 PRF1 PRKCSH RACGAP1 RFX6 RHAG RHCE RHD RNU4ATAC ROBO1 SC5D SEC63 SEMA7A SLC10A1 SLC17A5 SLC19A1 SLC25A13 SLC2A1 SLC2A2 SLC30A10 SLC35A2 SLC4A1 SLC51A SLC5A5 SLCO1B1 SLCO1B3 SPIB SPTA1 SPTB SPTBN1 TCEAL1 TFAM TG TMEM67 TNFSF15 TNPO3 TPO TRMU TSHB TSHR TTC26 UBE2A UBR1 UGT1A1 UROS VIPAS39 VPS33B VPS50 WDR35 ZNF699 HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION ATP5F1B BCAT2 BCKDHA BCKDHB BCKDK DBT DLD MCCC1 MCCC2 MICU1 PPM1K HP_ABNORMAL_CIRCULATING_CALCIUM_PHOSPHATE_REGULATING_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CALCIUM_PHOSPHATE_REGULATING_HORMONE_CONCENTRATION ADORA2A AIRE CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLDN16 CLDN19 CYP24A1 CYP27B1 CYP2R1 CYP3A4 DLST FAM20A FH GCM2 GNAS GNAS-AS1 KIF1B KL MAX MDH2 MEN1 NF1 OCRL PDE4D PHEX PRKAR1A PTH RET RNU4ATAC SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SLC34A1 SLC34A3 SOST STX16 TBCE TBX1 TMEM127 TRPV6 VDR VHL HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION ACAT2 AIFM1 BCS1L COX10 COX16 COX6A2 DCXR DLD FOXRED1 GALE GALK1 GALM GALT GK HNF1A IL6 ITPR3 KARS1 LDHA LIPT2 LONP1 MECP2 MPC1 MT-ND1 MT-ND2 MT-ND3 MT-TF MT-TI MT-TK MT-TL1 MT-TP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL PC PDHA1 PDHX PITRM1 PNPLA8 POLG PTPN22 RPIA SCO2 SDHB SKIC3 SLC25A13 SLC25A26 SLC2A2 SORD TIMMDC1 TKT TMEM126B TWNK UQCRC2 HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION AASS ABCB11 ABCB4 ABCC2 ABCD3 ABCD4 ACAD8 ACAD9 ACADM ACADS ACSF3 ADK AHCY AKR1D1 ALDH18A1 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB AMACR AMT ANK1 AP1B1 APP ARG1 ASL ASNS ASPA ASS1 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATP7B ATP8B1 ATPAF1 ATPAF2 BAAT BCAT2 BCKDHA BCKDHB BCKDK BCS1L BLVRA BOLA3 CA5A CASK CBS CCDC47 CD320 CDAN1 COL7A1 COQ9 COX10 COX16 COX5A COX6B1 COX8A CPOX CPS1 CPT2 CTH CYP7B1 DBT DCDC2 DGUOK DLD DMGDH DNAJC19 DNAJC21 DNM1L DTYMK DUOX2 DUOXA2 DZIP1L EFL1 EHHADH EIF2AK3 EPB41 EPB42 ETFA ETFB ETFDH ETHE1 FAH FARSB FBP1 FBXL4 FDFT1 FH FOCAD FTCD G6PD GALT GAMT GATA1 GATM GCDH GCH1 GLDC GLRX5 GLS GLUL GLYCTK GNMT GPHN GPX1 GSR GUCY2D GYPC HADH HADHA HAL HBB HCFC1 HK1 HPD HS6ST2 HSD17B10 HSD3B7 IARS1 IBA57 IDH2 IGF1 IL12A IL12RB1 IMPDH2 IRF5 IRF6 IYD KARS1 KCNN4 KIF12 KIF23 KLF1 KMT2D KYNU L2HGDH LBR LIG3 LIPT1 LIPT2 LMBRD1 LRP5 LYRM7 MAT1A MCCC1 MCCC2 MCEE MDH1 MED12 MICOS13 MICU1 MIPEP MMAA MMAB MMACHC MMADHC MMEL1 MMP1 MMUT MPO MRM2 MRPL3 MRPS14 MRPS2 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TV MT-TW MTHFD1 MTHFR MTO1 MTR MTRR MTTP MYO5B NAA10 NADK2 NAGS NDUFA13 NDUFAF6 NDUFB10 NDUFC2 NDUFS4 NFE2L2 NFS1 NFU1 NGLY1 NHLRC2 NOS3 NR1H4 NR4A2 OAT ODC1 OSTM1 OTC OTX2 PAFAH1B1 PAH PAX8 PC PCBD1 PCCA PCCB PCK1 PDHA1 PDHX PDP1 PET117 PEX14 PEX19 PEX2 PEX26 PFKM PGK1 PHGDH PIEZO1 PIGA PKHD1 PKLR PLAU PNPLA6 PNPO POLG POLG2 POMC POU2AF1 PPM1K PRDX1 PRF1 PRKCSH PRODH PSAT1 PSPH PTS QDPR RACGAP1 RFX6 RHAG RHCE RHD RNU4ATAC ROBO1 RRM2B SARDH SBDS SC5D SCO1 SEC63 SEMA7A SERAC1 SKIC3 SLC10A1 SLC17A5 SLC19A1 SLC25A13 SLC25A15 SLC25A20 SLC25A4 SLC2A1 SLC2A2 SLC30A10 SLC34A1 SLC35A2 SLC36A2 SLC4A1 SLC51A SLC51B SLC52A1 SLC5A5 SLC6A18 SLC6A19 SLC6A20 SLC6A3 SLC7A7 SLCO1B1 SLCO1B3 SPIB SPR SPTA1 SPTB SPTBN1 SRP54 SUCLA2 SUCLG1 SUGCT TALDO1 TANGO2 TARS2 TAT TCEAL1 TDO2 TFAM TG TJP2 TMEM126B TMEM67 TMEM70 TNFRSF11B TNFSF15 TNPO3 TPO TRMT10C TRMU TSHB TSHR TTC26 TYMP UBE2A UBR1 UGT1A1 UNC45A UPB1 UQCRC2 UROC1 UROS USP53 VARS2 VIPAS39 VPS33B VPS50 WDR35 ZNF699 HP_ABNORMAL_CIRCULATING_CARNITINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARNITINE_CONCENTRATION ACAD8 ACAD9 ACADM COL7A1 CPT2 DLD EHHADH GATM HADH MMP1 MT-TE NADK2 NDUFAF6 SCO1 SLC25A20 SLC34A1 TRMU HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION AP1B1 AP1S1 ATP7A ATP7B CCDC115 COG2 CP FTH1 SLC31A1 SLC33A1 TMEM199 HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION ABCA1 ABCA2 ABCB4 ABCG5 ABCG8 AGPAT2 ALB ALG12 ALG6 ALMS1 ANGPTL3 APOA1 APOA2 APOA5 APOB APOC2 APOC3 APOE APTX ATAD3A ATP6AP1 B4GALT1 BSCL2 CAV1 CAV3 CAVIN1 CCDC115 CELA2A CEP19 CETP COG4 CREB3L3 CYP11A1 CYP27A1 CYP7A1 CYP7B1 DEAF1 DGAT1 DHCR24 DHCR7 DIO1 DLK1 DYRK1B EBP EMD EPHX2 FDFT1 FHL1 FLCN FLII FOS GALK1 GALNT2 GHR GPIHBP1 HSD3B7 HTT IFT172 IQSEC2 JAG1 KIF12 LCAT LDLR LDLRAP1 LIPA LIPC LMNA LPL LRP6 MEF2A MEG3 MSMO1 MTTP MYO5B NGLY1 NSDHL NUP107 OCRL PANK2 PCSK9 PEX12 PHKA2 PHKB PHKG2 PIK3R5 PMM2 PNKP PNLIP PPARG PPP1R17 PSAP PSMB8 PYGL RAI1 RSPO1 RTL1 SAR1B SC5D SETX SLC25A13 SLC25A36 SLC2A3 SLC37A4 SLC7A7 SMPD1 SYNE1 SYNE2 TBL1X TDP1 TMEM199 TMEM43 TSHB TTC26 TTPA UBE3B UBR1 HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION AASS ALDH18A1 ASS1 ATP5F1A CA5A CPS1 MRM2 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW OTC PCK1 SLC25A13 SLC25A15 SLC7A7 HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION AP1B1 AP1S1 ATP6AP1 ATP6V0A2 ATP7A ATP7B COG2 CP FTH1 SCO2 SLC31A1 SLC33A1 SPATA5 TMPRSS6 HP_ABNORMAL_CIRCULATING_CREATINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CREATINE_CONCENTRATION BMPR1A RPS20 SEMA4A SLC6A8 TNPO3 HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION ADAMTS13 ALG5 ALG8 ALG9 APRT AVPR2 BICC1 C3 CC2D2A CCND1 CD46 CFB CFH CFHR1 CFHR3 CFI COQ7 CORIN CPT2 CTNS DBH DNAJB11 EHHADH ELP1 FAN1 FLT1 GALNT2 GAMT GANAB HBB HNF1B HPRT1 IFT140 INVS MLIP MRPS7 MUC1 NFE2L2 NPHP1 NT5E PAX2 PKD1 PKD2 SEC61A1 SLC22A12 SLC41A1 SLC4A1 SLC4A2 STOX1 THBD TMEM260 TREX1 TTC26 WDR19 HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION ABCC8 AGPAT2 APPL1 BLK BSCL2 CAV1 CAVIN1 CEL CIDEC CNOT1 FOS GCK HADH HNF1A HNF4A INS INSR KCNJ11 KLF11 NAB2 NEUROD1 PAX4 PDX1 PPARG SLC25A36 STAT6 UCP2 HP_ABNORMAL_CIRCULATING_C_REACTIVE_PROTEIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_C_REACTIVE_PROTEIN_CONCENTRATION ADA2 AP1S3 ARPC1B C1QB C2orf69 CARD10 CASR CCN6 CD244 CFTR CIITA COPA CPA1 CTLA4 CTRC DEF6 ELF4 HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 IL10 IL1RN IL36RN IL37 IL6 IL6R IL6ST ITGB2 ITK LACC1 MEFV MIF MVK NCF4 NFKBIL1 NLRC4 NLRP1 NLRP12 NLRP3 OTULIN POMP PRKCD PRSS1 PRSS2 PRTN3 PSMB8 PSTPIP1 PTPN22 SH2D1A SLC22A4 SPINK1 STING1 SYK TBK1 TICAM1 TLR3 TNFRSF1A TRAF3 UBA1 UNC93B1 XIAP ZNFX1 HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION CDKN2A CTNNB1 CYP17A1 HSD3B2 MC2R MRAP NNT POR PRKAR1A STAR TERT TP53 TXNRD2 WNT4 ZNRF3 HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION ABCB11 ABCB4 ABCC2 ABCD3 ABCD4 ACSF3 ADK AKR1D1 ALDH6A1 ALDH7A1 ALDOA ALDOB AMACR ANK1 ATP7B ATP8B1 BAAT BLVRA CASK CD320 CDAN1 CPOX CPT2 CYP7B1 DCDC2 DGUOK DNAJC19 DUOX2 DUOXA2 EIF2AK3 EPB41 EPB42 ETFA ETFB ETFDH FARSB FBP1 FDFT1 FH FOCAD G6PD GATA1 GCDH GLRX5 GPX1 GSR GYPC HBB HCFC1 HK1 HSD3B7 IARS1 IDH2 IGF1 IL12A IL12RB1 IRF5 IYD KCNN4 KIF12 KIF23 KLF1 KMT2D L2HGDH LBR LIPT1 LMBRD1 LRP5 MED12 MMAA MMAB MMACHC MMADHC MMEL1 MMUT MTR MTRR MTTP MYO5B NAA10 NHLRC2 NR1H4 ODC1 OSTM1 OTX2 PAFAH1B1 PAX8 PEX14 PEX19 PEX2 PFKM PGK1 PIEZO1 PIGA PKHD1 PKLR PNPLA6 POLG2 POMC POU2AF1 PRDX1 PRF1 PRKCSH RACGAP1 RFX6 RHAG RHCE RHD RNU4ATAC ROBO1 SC5D SEC63 SEMA7A SLC10A1 SLC17A5 SLC19A1 SLC25A13 SLC2A1 SLC2A2 SLC30A10 SLC35A2 SLC4A1 SLC51A SLC5A5 SLCO1B1 SLCO1B3 SPIB SPTA1 SPTB SPTBN1 SUCLA2 SUCLG1 SUGCT TCEAL1 TFAM TG TMEM67 TNFSF15 TNPO3 TPO TRMU TSHB TSHR TTC26 UBE2A UBR1 UGT1A1 UQCRC2 UROS VIPAS39 VPS33B VPS50 WDR35 ZNF699 HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION ABCD4 ACAD8 ACAD9 ACADM ACADS COL7A1 COX16 CPT2 DLD DNM1L EHHADH ETHE1 GATM HADH HADHA LMBRD1 LYRM7 MCEE MMACHC MMP1 MT-TE NADK2 NDUFAF6 PEX26 SCO1 SLC25A20 SLC34A1 SLC52A1 TANGO2 TRMU HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION ABCC8 ABCD1 ABCD4 ACAD8 ACAD9 ACADM ACADS ACADVL AKT2 AMACR AP1S1 BCAP31 COL7A1 COX16 CPT2 DLD DNM1L DOLK EHHADH ETHE1 GATM GLYCTK HADH HADHA HNF1A HNF4A HSD17B4 KCNJ1 KCNJ11 LMBRD1 LTC4S LYRM7 MCEE MMACHC MMP1 MT-TE NADK2 NDUFAF6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PLA2G4A REPS1 SCO1 SCP2 SLC12A1 SLC25A20 SLC34A1 SLC52A1 TANGO2 TRMU UCP2 HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION BCS1L BMP2 BMP6 CP CPOX FOCAD FTH1 FTL GFER GLRX5 HAMP HAVCR2 HBB HFE HJV HMOX1 IFIH1 IFNG ITK KARS1 KCNN4 LYST MCM10 NLRC4 PIEZO1 PIK3CG PKLR PRF1 PUS1 SLC19A1 SLC25A38 SLC30A10 SLC40A1 SLC4A1 SLC7A7 STAT2 STEAP3 STX11 STXBP2 TFR2 TTC26 UNC13D XIAP HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION AKT1 ANOS1 AR BAP1 BMPR1B BNC1 C14orf39 CBX2 CLPP CNBP CPE CYB5A CYP11A1 CYP17A1 DHX37 DIAPH2 DMRT3 DMXL2 ERCC6 ESR2 FAM111A FANCM FEZF1 FGD1 FIGLA FKBP6 FOXL2 FSHB GATA4 GCNA GDF9 HESX1 HFM1 KISS1 KISS1R LGR4 LHB LHX3 LHX4 MAP3K1 MCM8 MCM9 MRPS22 MSH4 MSH5 NF2 NHLH2 NR0B1 NR5A1 NSMCE2 OTX2 PDGFB PIK3CA POR POU1F1 PPP2R3C PRDM13 PROP1 PSMC3IP ROBO1 SEMA3A SHOC1 SMARCB1 SMARCE1 SMO SOHLH1 SOX9 SPIDR SRY STAG3 SUFU SYCE1 TAC3 TERT TP63 TRAF7 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7 HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION ABCC8 ACADVL AKT2 DOLK GLYCTK HADH HNF1A KCNJ11 UCP2 HP_ABNORMAL_CIRCULATING_FREE_T3_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_T3_CONCENTRATION MADD NKX2-5 POU1F1 SECISBP2 THRB TRHR TSHR HP_ABNORMAL_CIRCULATING_FREE_T4_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_T4_CONCENTRATION ALB CPE IRS4 KCNJ18 MADD NKX2-5 POU1F1 SECISBP2 TBL1X THRB HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION ALDH5A1 APP MPO NOS3 PLAU USP53 HP_ABNORMAL_CIRCULATING_GLOBULIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLOBULIN_CONCENTRATION ALB B2M CIITA FTH1 PLG RFX5 RFXANK RFXAP SERPINE1 TF HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION ASL ASS1 CA5A COX16 GLS GLUL LIPT1 NAGS OTC SLC25A13 SLC7A7 TALDO1 HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION ALDH18A1 ALDH4A1 ARG1 ASL ASS1 ATP5F1A CA5A COX10 COX16 COX5A CPS1 GLS GLUL LIPT1 MDH1 NAGS NDUFB10 NDUFC2 OTC PDP1 PNPO PRODH SLC25A13 SLC36A2 SLC6A18 SLC6A19 SLC6A20 SLC7A7 TALDO1 TARS2 TNFRSF11B HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION ALDH4A1 AMT ATP5F1A BOLA3 COX8A GLDC GLRX5 GLYCTK IBA57 IRF6 MMAA MMAB MMUT NFS1 NFU1 PCCA PCCB PET117 PHGDH PNPO PSAT1 SLC30A10 SLC36A2 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SUCLG1 HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION AKT1 ANOS1 AR BAP1 BMP15 BMPR1B BNC1 C14orf39 CATIP CBX2 CCDC34 CDH23 CFTR CLPP CNBP CPE CT55 CYB5A CYP11A1 CYP17A1 DHH DHX37 DIAPH2 DMRT3 DMXL2 DNAH10 DNHD1 ERCC6 ESR1 ESR2 FAM111A FANCM FBXO43 FEZF1 FGD1 FIGLA FKBP6 FMR1 FOXL2 FSHB FSHR GATA4 GCNA GDF9 GNRH1 HESX1 HFM1 HSD17B4 KISS1 KISS1R KLHL10 LARS2 LGR4 LHB LHCGR LHX3 LHX4 MAGEL2 MAP3K1 MCM8 MCM9 MEIOB MOV10L1 MRPS22 MSH4 MSH5 NANOS1 NDN NF2 NHLH2 NR0B1 NR5A1 NSMCE2 NUP107 OCA2 OTX2 PDGFB PDHA2 PIK3CA PNLDC1 PNPLA6 POLA1 POLR3H POR POU1F1 PPP2R3C PRDM13 PROP1 PSMC3IP RNF212 ROBO1 RPL10L SEMA3A SHOC1 SMARCB1 SMARCE1 SMO SNRPN SOHLH1 SOX9 SPAG17 SPIDR SRY STAG3 SUFU SYCE1 SYCP3 TAC3 TAF4B TDRD9 TERB1 TERB2 TERT TEX11 TEX14 TEX15 TP63 TRAF7 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7 HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION ABCD4 AHCY CBS CD320 HCFC1 LMBRD1 MCEE MMACHC MMADHC MTHFD1 MTHFR MTR MTRR NFE2L2 PRDX1 SLC19A1 HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION AAAS ABCA4 ABCC8 ABCD1 ADAT3 ADCY3 ADORA2A AGBL5 AGPAT2 AHI1 AHR AIP AIRE AKT1 AKT2 ALB ALG12 ALG6 ALG8 ALMS1 AMH AMHR2 ANOS1 APPL1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARMC5 ATRX AVP B4GALNT1 BANF1 BAP1 BBS1 BBS2 BEST1 BLK BMP15 BMP6 BMPR1B BNC1 BRAF BSCL2 BTG4 C14orf39 CA4 CASR CATIP CAV1 CAVIN1 CBX2 CC2D2A CCDC134 CCDC141 CCDC34 CCND1 CDC73 CDH23 CDHR1 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEL CEP112 CERKL CFAP418 CFTR CHD7 CIDEC CLDN16 CLDN19 CLN3 CLPP CLRN1 CNBP CNGA1 CNGB1 COL2A1 CPE CRB1 CRX CT55 CTDP1 CTNNB1 CTSK CYB5A CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP24A1 CYP27B1 CYP2R1 CYP3A4 DAXX DBH DCAF17 DCC DHDDS DHH DHX37 DHX38 DIAPH2 DIO1 DIS3L2 DLST DMRT3 DMXL2 DNAH10 DNHD1 DSG1 DUOX2 DUOXA2 DUSP6 EIF2B1 EPAS1 EPO ERCC6 ESR1 ESR2 EYS FAM111A FAM161A FAM20A FANCM FBXO43 FEZF1 FGD1 FGF17 FGF8 FGFR1 FH FIGLA FKBP6 FLRT3 FMR1 FN1 FOCAD FOS FOXA2 FOXL2 FSCN2 FSHB FSHR GALK1 GALT GATA4 GATB GATC GCGR GCK GCM2 GCNA GDF9 GH1 GHR GHRHR GHSR GLI2 GLI3 GLIS3 GLUD1 GNAS GNAS-AS1 GNRH1 GNRHR GPR101 GUCA1B HADH HERC2 HESX1 HFE HFM1 HGSNAT HNF1A HNF4A HPGD HS6ST1 HSD11B2 HSD17B4 HSD3B2 HTR1A HYMAI IDH3A IDH3B IFT140 IFT172 IFT88 IGF1 IGF1R IGFALS IGSF1 IL17RD IMPDH1 IMPG1 IMPG2 INS INSR IRS4 IYD KCNJ11 KCNJ18 KCNJ6 KIAA0753 KIAA1549 KIF1B KISS1 KISS1R KIZ KL KLF11 KLHL10 KLHL7 LARS2 LEP LEPR LGR4 LHB LHCGR LHX3 LHX4 LIPE LMNA LRAT MADD MAFA MAGEL2 MAK MAP3K1 MARS2 MAX MC2R MC4R MCM8 MCM9 MCOLN1 MCTP2 MDH2 MECP2 MED12 MEIOB MEN1 MERTK MKRN3 MOV10L1 MPDU1 MPI MRAP MRPS22 MRPS7 MSH4 MSH5 NAB2 NANOS1 NDN NDNF NEK2 NEUROD1 NF1 NF2 NFKB2 NHLH2 NKX2-1 NKX2-5 NLGN3 NLGN4X NNT NPAP1 NR0B1 NR2E3 NR2F2 NR3C1 NR5A1 NRL NSMCE2 NSMF NUP107 OCA2 OCRL OFD1 OTX2 PAPPA2 PAX4 PAX8 PCARE PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDGFB PDGFRB PDHA2 PDX1 PGM1 PHEX PIK3CA PLAGL1 PLIN1 PLVAP PMM2 PNLDC1 PNPLA6 POLA1 POLR3A POLR3H POMC POMGNT1 POR POU1F1 PPARG PPP2R3C PRCD PRDM13 PRKACA PRKAR1A PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMB8 PSMC3IP PTH PWAR1 PWRN1 QRSL1 RBM28 RBP3 RDH12 REEP6 RET RGR RHO RLBP1 RNF125 RNF212 RNU4ATAC ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10L SAG SCAPER SDHA SDHAF2 SDHB SDHC SDHD SECISBP2 SEMA3A SEMA4A SERPINA6 SH2B1 SHOC1 SHROOM4 SIK3 SIM1 SLC16A1 SLC16A2 SLC25A11 SLC25A36 SLC34A1 SLC34A3 SLC35A2 SLC39A4 SLC5A2 SLC5A5 SLC7A14 SLCO2A1 SMARCAL1 SMARCB1 SMARCE1 SMC5 SMO SMPD1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOST SOX10 SOX3 SOX9 SPAG17 SPATA7 SPIDR SPRY4 SRY STAG3 STAR STAT5B STAT6 STX16 SUFU SYCE1 SYCP3 TAC3 TACR3 TAF4B TBCE TBL1X TBX1 TBX19 TDO2 TDRD9 TERB1 TERB2 TERT TEX11 TEX14 TEX15 TG THRA THRB TMEM127 TMEM67 TOPORS TP53 TP63 TPO TRAF7 TRHR TRMT10A TRPV6 TSHB TSHR TTC8 TUB TULP1 TXNRD2 UCP2 USH2A USP48 USP8 USP9X VAMP7 VDR VHL WDR11 WNT4 WT1 WWOX XRCC2 YY1 ZFP57 ZFPM2 ZMPSTE24 ZMYND15 ZNF408 ZNF513 ZNRF3 ZSWIM7 HP_ABNORMAL_CIRCULATING_IGA_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGA_LEVEL ADA AICDA ALG12 ATM ATP6AP1 B2M BACH2 BLM BLNK BTK CARD10 CARD11 CASP10 CASP8 CAVIN1 CCND1 CD19 CD247 CD3D CD3E CD40 CD40LG CD79B CR2 CSNK2A1 CTLA4 DCLRE1C DNMT3B FAS FASLG GTF2H5 HLA-DQA1 HLA-DQB1 ICOS IGHG2 IGKC IGLL1 IKBKG IL12A IL12RB1 IL2RA IL2RG IL6ST IL7R IPO8 IRF2BP2 IRF5 ITCH IVNS1ABP JAK3 KNSTRN LCK LIG1 LRBA MMEL1 MOGS MTOR MVK NFE2L2 NFKB2 NFKBIA NLRP1 OTULIN PGM3 PIGT PIK3CD PIK3CG PIK3R1 PLCG2 PMM2 POMP POU2AF1 PRIM1 PRKCD PSMB8 PTPRC RAG1 RAG2 RASGRP1 REL RNF168 SASH3 SPI1 SPIB STAT2 STING1 SYK TCF3 TCN2 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF15 TNPO3 TOM1 TYMS UNG WAS ZBTB24 ZNF341 HP_ABNORMAL_CIRCULATING_IGE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGE_LEVEL ADA ADAM17 BACH2 BTK CARD10 CARD11 CARD9 CASP10 CD247 CD40 CD40LG CDSN COL7A1 DCLRE1C DOCK8 DSG1 EGFR EXTL3 FAS FASLG FOXP3 GPC3 GPC4 IKBKG IL21 IL21R IL2RA IL2RG IL4R IL6R IL6ST IL7R IPO8 IRAK4 KRT74 KRT9 LCK MS4A2 NCKAP1L NFKBIA NSMCE3 PGM3 PLA2G7 PRKCD RASGRP1 SPINK5 STAT3 STAT5B TCF3 TGFB1 TOM1 TYK2 WAS ZNF341 HP_ABNORMAL_CIRCULATING_IGG_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGG_LEVEL ADA AICDA ALG12 ARHGEF1 ATM ATP6AP1 B2M BACH2 BLM BLNK BTK CARD10 CASP10 CASP8 CCND1 CD19 CD247 CD3D CD3E CD3G CD40 CD40LG CD79B CD81 CNBP CR2 CSNK2A1 CTLA4 CTPS1 CXCR4 DCLRE1C DOCK8 EPG5 ERCC2 EXTL3 FAS FASLG FNIP1 ICOS IFIH1 IFNGR1 IGHG2 IGKC IKBKG IL21 IL2RB IL2RG IL6R IL6ST IL7R IPO8 IRF2BP2 IRF8 ITK IVNS1ABP JAK3 KNSTRN LCK LIG1 LRBA MGAT2 MOGS MS4A1 NAE1 NCKAP1L NFKB2 NFKBIA NHLRC2 NLRP1 PGM3 PIK3CD PIK3CG PIK3R1 PMM2 POMP PRIM1 PRKCD PSMB8 PTPRC RAC2 RAG1 RAG2 RASGRP1 REL RNF113A RNF168 SASH3 SH2D1A SH3KBP1 SLC5A6 SON SP110 SPI1 SPINK5 SPPL2A STAT2 STING1 SYK TCF3 TCN2 TGFB1 TLR8 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF9 TOM1 TONSL TPP2 TRMU TYMS UNG VPS33A XIAP ZBTB24 HP_ABNORMAL_CIRCULATING_IGM_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGM_LEVEL ADA ADA2 AICDA ALG12 ARHGEF1 ATP6AP1 B2M BACH2 BLM BLNK BTK CARD11 CASP10 CASP8 CD19 CD247 CD40 CD40LG CD79B CNBP CR2 CTLA4 DNMT3B DOCK8 EXTL3 FAS FASLG FNIP1 GPR35 ICOS IFNGR1 IGHG2 IGKC IGLL1 IKBKG IL12A IL12RB1 IL2RG IL6R IL6ST IRF2BP2 IRF5 IVNS1ABP JAK3 KLHDC8B KNSTRN LAMTOR2 LCK LIG1 LRBA MMEL1 MOGS MST1 MYD88 NAE1 NFKB2 NFKBIA NSMCE3 OTULIN PGM3 PIGT PIK3CD PIK3CG PIK3R1 PLCG2 POLE POMP POU2AF1 PRIM1 PRKCD PTEN PTPRC RAC2 RAG1 RAG2 RASGRP1 RNF168 SASH3 SEMA4D SH2D1A SH3KBP1 SIK3 SPI1 SPIB SPPL2A STAT2 SYK TCF3 TCF4 TCN2 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF15 TNPO3 TOM1 TPP2 TYMS UNG VPS33A WAS XIAP ZBTB24 HP_ABNORMAL_CIRCULATING_INSULIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INSULIN_CONCENTRATION ABCA4 ABCC8 ADCY3 AGBL5 AGPAT2 AHI1 AHR AKT2 ALMS1 APPL1 ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 BLK BSCL2 CA4 CAV1 CAVIN1 CC2D2A CDHR1 CDKN1B CEL CERKL CFAP418 CLRN1 CNGA1 CNGB1 CPE CRB1 CRX DBH DCAF17 DHDDS DHX38 DIS3L2 DMXL2 ESR1 EYS FAM161A FOCAD FOS FSCN2 GALK1 GCK GLUD1 GUCA1B HADH HERC2 HGSNAT HNF1A HNF4A HYMAI IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 INS INSR KCNJ11 KIAA1549 KIZ KLF11 KLHL7 LEP LEPR LMNA LRAT MAFA MAGEL2 MAK MC4R MEN1 MERTK MKRN3 MPI NAB2 NEK2 NEUROD1 NPAP1 NR2E3 NRL OFD1 PAPPA2 PAX4 PCARE PCSK1 PDE6A PDE6B PDE6G PDX1 PLAGL1 PLIN1 PMM2 POMC POMGNT1 PPARG PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PWAR1 PWRN1 RBP3 RDH12 REEP6 RGR RHO RLBP1 RNF125 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SECISBP2 SEMA4A SH2B1 SIM1 SLC16A1 SLC25A36 SLC5A2 SLC7A14 SMC5 SNORD115-1 SNORD116-1 SNRNP200 SPATA7 STAT6 TOPORS TRMT10A TTC8 TUB TULP1 UCP2 USH2A YY1 ZFP57 ZMPSTE24 ZNF408 ZNF513 HP_ABNORMAL_CIRCULATING_INTERFERON_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INTERFERON_CONCENTRATION ADAR ANKRD55 CD247 IFIH1 IL2RA IL2RB LSM11 POLA1 PRF1 PSMB8 PTPN2 PTPN22 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SP110 STAT1 STAT4 STX11 STXBP2 TOM1 TREX1 UNC13D HP_ABNORMAL_CIRCULATING_INTERLEUKIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INTERLEUKIN_CONCENTRATION ABCB11 ABCB4 ANKRD55 ATP8B1 CARD10 CASP10 CD247 ELF4 FADD FAS FASLG HMOX1 IL12RB1 IL2RA IL2RB IL6R MEFV NR1H4 POLA1 PRF1 PRKCD PSMB8 PTPN2 PTPN22 RASGRP1 SASH3 SP110 STAT4 STX11 STXBP2 UNC13D HP_ABNORMAL_CIRCULATING_LEPTIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LEPTIN_CONCENTRATION ADCY3 AGPAT2 AKT2 BANF1 BSCL2 CIDEC KCNJ6 LEP LEPR LIPE LMNA MECP2 ZMPSTE24 HP_ABNORMAL_CIRCULATING_LEUCINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LEUCINE_CONCENTRATION ATP5F1B BCAT2 MCCC1 MCCC2 PPM1K HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION ABCA1 ABCA2 ABCB4 ABCC8 ABCD1 ABCD4 ABCG5 ABCG8 ABHD5 ACAD8 ACAD9 ACADM ACADS ACADVL ACOX2 ACTN4 ADCY3 AEBP1 AGL AGPAT2 AKT2 ALB ALG12 ALG6 ALMS1 AMACR ANGPTL3 AP1S1 APOA1 APOA2 APOA5 APOB APOC2 APOC3 APOE APTX AR ARMC5 ATAD3A ATP6AP1 B4GALT1 BAZ1B BCAP31 BCL7B BSCL2 BUD23 CAV1 CAV3 CAVIN1 CCDC115 CCT5 CELA2A CEP19 CETP CFH CFHR1 CFHR3 CIDEC CLIP2 COG4 COL7A1 COX16 CPT1A CPT2 CREB3L3 CYP11A1 CYP19A1 CYP27A1 CYP7A1 CYP7B1 DCAF17 DEAF1 DEF6 DGAT1 DHCR24 DHCR7 DIO1 DLD DLK1 DNAJC30 DNM1L DOLK DYRK1B EBP EHHADH EIF4H ELN EMD EPHX2 ETHE1 FARSA FBN1 FDFT1 FECH FHL1 FKBP6 FLCN FLII FOS G6PC1 GALK1 GALNT2 GATM GHR GK GLA GLYCTK GNAS GNPAT GPD1 GPIHBP1 GTF2I GTF2IRD1 GTF2IRD2 GYS2 HADH HADHA HAVCR2 HNF1A HNF4A HSD17B4 HSD3B7 HTT IFT172 IL12A IL12RB1 IQSEC2 IRF5 JAG1 KCNJ1 KCNJ11 KIF12 LCAT LDLR LDLRAP1 LEP LEPR LIMK1 LIPA LIPC LIPE LMAN1 LMBRD1 LMF1 LMNA LMNB2 LPL LRP6 LTC4S LYRM7 LYST MC4R MCEE MCFD2 MCM10 MEF2A MEG3 METTL27 MLXIPL MMACHC MMEL1 MMP1 MSMO1 MT-TE MT-TK MT-TL1 MTTP MTX2 MYO5A MYO5B NADK2 NCF1 NDUFAF6 NGLY1 NPHS1 NPHS2 NSDHL NSMCE2 NUP107 OCRL PANK2 PCSK9 PCYT1A PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHKA2 PHKB PHKG2 PHYH PIGH PIGT PIK3CG PIK3R5 PLA2G4A PLA2G7 PLIN1 PLVAP PMM2 PNKP PNLIP PNPLA2 POLD1 POLR3A POU2AF1 PPARG PPP1R17 PRF1 PSAP PSMB10 PSMB4 PSMB8 PSMB9 PYGL RAB27A RAI1 REPS1 RFC2 RSPO1 RTL1 SAR1B SC5D SCO1 SCP2 SETX SGPL1 SH2B1 SLC12A1 SLC25A13 SLC25A20 SLC25A36 SLC29A3 SLC2A2 SLC2A3 SLC34A1 SLC37A4 SLC52A1 SLC7A7 SMARCAL1 SMPD1 SPIB STX11 STX1A STXBP2 SYNE1 SYNE2 TANGO2 TBCK TBL1X TBL2 TDP1 TFG TMEM199 TMEM270 TMEM43 TNFRSF9 TNFSF15 TNPO3 TRMU TSHB TTC26 TTPA UBE3B UBR1 UCP2 UNC13D VPS37D WRN XIAP XRCC4 YARS1 ZMPSTE24 HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION ABCD1 AMACR CPT2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH SCP2 HP_ABNORMAL_CIRCULATING_LYSINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LYSINE_CONCENTRATION AASS MICU1 NADK2 SLC25A13 SLC7A7 HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION AASS ABCA1 ABCA2 ABCB11 ABCB4 ABCB6 ABCC2 ABCC6 ABCC8 ABCC9 ABCD1 ABCD3 ABCD4 ABCG5 ABCG8 ABHD5 ACAD8 ACAD9 ACADM ACADS ACADVL ACAT1 ACAT2 ACOX2 ACSF3 ACSL5 ACTA1 ACTC1 ACTN2 ACTN4 ADA2 ADAMTS13 ADAMTS3 ADCY10 ADCY3 ADK ADSS1 AEBP1 AFP AGL AGPAT2 AGXT AHCY AIFM1 AIP AKAP9 AKR1D1 AKT2 ALAD ALAS2 ALB ALDH18A1 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG14 ALG2 ALG5 ALG6 ALG8 ALG9 ALMS1 ALPL AMACR AMPD1 AMPD3 AMT ANGPTL3 ANK1 ANK2 ANKFY1 ANKRD1 ANLN ANO5 ANXA11 AP1B1 AP1S1 AP1S3 AP2S1 AP5Z1 APC2 APOA1 APOA2 APOA5 APOB APOC2 APOC3 APOE APOL1 APP APPL1 APRT APTX AQP2 AR ARG1 ARHGAP24 ARHGDIA ARMC5 ARNT2 ARPC1B ARVCF ASAH1 ASL ASNS ASPA ASS1 ATAD3A ATIC ATM ATP1A1 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1E1 ATP7A ATP7B ATP8B1 ATPAF1 ATPAF2 AVPR2 B2M B3GALNT2 B4GALT1 B4GAT1 BAAT BAG3 BAG5 BAZ1B BCAP31 BCAT2 BCKDHA BCKDHB BCKDK BCL10 BCL7B BCS1L BICC1 BICD2 BIN1 BLK BLVRA BMP2 BMP6 BMPR1A BOLA3 BSCL2 BSND BTD BTK BTNL2 BUD23 BVES C19orf12 C1QB C1QBP C2orf69 C3 CA12 CA2 CA5A CACNA1C CACNA1D CACNA1S CAD CALM1 CALM2 CALM3 CAMKMT CAP2 CAPN3 CARD10 CARD9 CARS2 CASK CASQ1 CASR CAV1 CAV3 CAVIN1 CBLIF CBS CC2D2A CCBE1 CCDC115 CCDC134 CCDC47 CCDC78 CCN6 CCND1 CCT5 CD244 CD2AP CD320 CD46 CD55 CDAN1 CDC73 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEL CELA2A CEP19 CETP CFB CFH CFHR1 CFHR3 CFI CFL2 CFTR CHCHD10 CHD7 CHKB CIDEC CIITA CLCN2 CLCN5 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CLPX CNBP CNNM2 CNOT1 CNTN1 COA7 COG2 COG4 COG6 COG7 COG8 COL12A1 COL25A1 COL3A1 COL4A1 COL4A3 COL6A1 COL6A2 COL6A3 COL7A1 COL9A3 COMT COPA COQ2 COQ7 COQ8B COQ9 CORIN COX10 COX16 COX20 COX5A COX6A2 COX6B1 COX8A CP CPA1 CPOX CPS1 CPT1A CPT2 CRB2 CREB3L3 CRLF1 CRPPA CRYAB CSF1R CSF2RA CSF2RB CSRP3 CTH CTLA4 CTNNB1 CTNS CTRC CUL3 CYC1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP24A1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7A1 CYP7B1 DAAM2 DAG1 DBH DBT DCAF17 DCDC2 DCLRE1C DCXR DEAF1 DEF6 DES DGAT1 DGCR2 DGCR6 DGCR8 DGKE DGUOK DHCR24 DHCR7 DHX16 DIO1 DLD DLK1 DLST DMD DMGDH DMP1 DNA2 DNAJB11 DNAJB4 DNAJB6 DNAJC19 DNAJC21 DNAJC30 DNM1L DNM2 DNMT3A DNMT3B DOK7 DOLK DPAGT1 DPM1 DPM2 DPM3 DPYS DSG1 DSG2 DSP DTYMK DUOX2 DUOXA2 DUX4 DUX4L1 DYRK1B DYSF DZIP1L EARS2 EBP EFL1 EGF EHHADH EIF2AK3 EIF4H ELF4 ELN ELP1 EMD EMP2 ENO3 ENPP1 EPAS1 EPB41 EPB42 EPG5 EPHX2 ERCC4 ERCC6 ERCC8 ERGIC1 ESS2 ETFA ETFB ETFDH ETHE1 FAH FAM111A FAM111B FAM20C FAN1 FARSA FARSB FAT4 FBN1 FBP1 FBXL4 FDFT1 FDX2 FECH FGF23 FGFR1 FGFR3 FH FHL1 FHL2 FKBP14 FKBP6 FKRP FKTN FLAD1 FLCN FLI1 FLII FLNC FLT1 FN1 FOCAD FOS FOXI1 FOXP1 FOXP3 FOXRED1 FRG1 FTCD FTH1 FTL FXYD2 G6PC1 G6PD GAA GABRA3 GALE GALK1 GALM GALNT2 GALNT3 GALT GAMT GANAB GAPVD1 GATA1 GATA3 GATAD1 GATB GATC GATM GBE1 GCDH GCH1 GCK GCM2 GEMIN4 GFER GFPT1 GGPS1 GHR GIPC1 GK GLA GLDC GLIS3 GLRX5 GLS GLUD1 GLUL GLYCTK GMPPB GNA11 GNAS GNAS-AS1 GNB2 GNE GNMT GNPAT GNPTAB GNPTG GOLGA2 GOSR2 GOT2 GP1BB GPD1 GPHN GPIHBP1 GPR35 GPX1 GSR GTF2I GTF2IRD1 GTF2IRD2 GUCY2D GYG1 GYPC GYS2 HACD1 HADH HADHA HADHB HAL HAMP HAND2 HAVCR2 HBB HCFC1 HESX1 HEXB HFE HHAT HINT1 HIRA HJV HK1 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMBS HMGCL HMOX1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPA2B1 HNRNPDL HPD HPRT1 HRAS HS6ST2 HSD11B2 HSD17B10 HSD17B4 HSD3B2 HSD3B7 HSPG2 HTT IARS1 IBA57 IDH2 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IGF1 IGFALS IL10 IL12A IL12RB1 IL1RN IL36RN IL37 IL6 IL6R IL6ST IMPDH2 INF2 INPP5K INPPL1 INS INSR INVS IQSEC2 IRF4 IRF5 IRF6 IRF8 ISCA1 ISCU ITGA3 ITGA7 ITGB2 ITGB4 ITK ITPR3 IYD JAG1 JAG2 JMJD1C JPH2 KARS1 KBTBD13 KCNA1 KCNE1 KCNE2 KCNE3 KCNH2 KCNJ1 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNN4 KCNQ1 KIF12 KIF1B KIF23 KIT KL KLF1 KLF11 KLHL3 KLHL41 KLHL9 KLKB1 KMT2D KNG1 KRAS KRT14 KRT18 KRT5 KY KYNU L2HGDH LACC1 LAMA1 LAMA2 LAMA3 LAMA4 LAMB2 LAMB3 LAMC2 LAMP2 LARGE1 LARS2 LBR LCAT LDB3 LDHA LDLR LDLRAP1 LEP LEPR LHX3 LHX4 LIG3 LIMK1 LIMS2 LIPA LIPC LIPE LIPT1 LIPT2 LMAN1 LMBRD1 LMF1 LMNA LMNB2 LMOD2 LMOD3 LONP1 LPIN1 LPL LRP12 LRP5 LRP6 LRPPRC LTBP4 LTC4S LYRM7 LYST MAD2L2 MAGED2 MAGI2 MARS1 MAT1A MATR3 MAX MB MC2R MC4R MCCC1 MCCC2 MCEE MCFD2 MCM10 MDH1 MDH2 MECP2 MED12 MEF2A MEFV MEG3 MEGF10 MEN1 MET METTL27 MGME1 MICOS13 MICU1 MIEF2 MIF MIPEP MKS1 MLIP MLXIPL MMAA MMAB MMACHC MMADHC MMEL1 MMP1 MMUT MOCOS MOCS1 MOCS2 MPC1 MPDU1 MPI MPO MPV17 MPZ MRAP MRM2 MRPL3 MRPS14 MRPS2 MRPS22 MRPS7 MSMO1 MST1 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TS1 MT-TV MT-TW MTHFD1 MTHFR MTMR14 MTO1 MTR MTRR MTTP MTX2 MUC1 MVK MYBPC3 MYC MYF6 MYH14 MYH6 MYH7 MYL1 MYL2 MYMK MYO1E MYO5A MYO5B MYOT MYPN NAA10 NAB2 NADK2 NAGS NARS2 NBAS NCF1 NCF4 NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEFH NEFL NEUROD1 NEXN NF1 NFE2L2 NFKB2 NFKBIL1 NFS1 NFU1 NGLY1 NHERF1 NHLRC2 NLRC4 NLRP1 NLRP12 NLRP3 NNT NOS1 NOS1AP NOS3 NOTCH2NLC NOTCH3 NPHP1 NPHS1 NPHS2 NPPA NPR2 NR0B1 NR1H4 NR3C1 NR3C2 NR4A2 NRAS NSD1 NSDHL NSMCE2 NSUN2 NT5E NUBPL NUP107 NUP133 NUP160 NUP205 NUP214 NUP37 NUP85 NUP93 OAT OBSCN OCRL ODC1 ORAI1 OSGEP OSTM1 OTC OTUD5 OTULIN OTX2 PABPN1 PAFAH1B1 PAH PANK2 PAPPA2 PAX2 PAX4 PAX8 PBX1 PC PCBD1 PCCA PCCB PCK1 PCSK9 PCYT1A PDGFB PDGFRB PDHA1 PDHB PDHX PDK3 PDP1 PDSS2 PDX1 PET100 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGK1 PGM1 PHEX PHGDH PHKA1 PHKA2 PHKB PHKG2 PHYH PIEZO1 PIEZO2 PIGA PIGH PIGN PIGT PIGY PIK3C2A PIK3CG PIK3R5 PITRM1 PKD1 PKD2 PKHD1 PKLR PLA2G4A PLA2G6 PLA2G7 PLAU PLCE1 PLEC PLEKHG5 PLEKHM1 PLG PLIN1 PLIN4 PLN PLVAP PLXNA1 PMM2 PNKP PNLIP PNP PNPLA2 PNPLA6 PNPLA8 PNPO POGLUT1 POLD1 POLG POLG2 POLR3A POLRMT POMC POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POPDC3 POR POU1F1 POU2AF1 PPARG PPCS PPM1B PPM1K PPOX PPP1R17 PRDM16 PRDX1 PREPL PRF1 PRKAR1A PRKCD PRKCSH PRODH PROP1 PRPS1 PRSS1 PRSS2 PRTN3 PRUNE1 PSAP PSAT1 PSEN1 PSEN2 PSMB10 PSMB4 PSMB8 PSMB9 PSPH PSTPIP1 PTEN PTH PTH1R PTPN22 PTPRO PTS PUS1 PYGL PYGM PYROXD1 QDPR QRICH1 QRSL1 RAB27A RACGAP1 RAF1 RAG1 RAG2 RAI1 RASA1 RBCK1 RBM20 RBP4 REN REPS1 RET RFC2 RFX5 RFX6 RFX7 RFXANK RFXAP RHAG RHCE RHD RILPL1 RINT1 RMRP RNASEH1 RNF168 RNU4ATAC RNU7-1 ROBO1 RPIA RPL3L RPS20 RRAGD RREB1 RRM2B RSPO1 RTL1 RXYLT1 RYR1 SAMD9 SAR1B SARDH SARS2 SBDS SC5D SCARB2 SCN10A SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCP2 SCYL2 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC61A1 SEC63 SECISBP2 SEMA4A SEMA4D SEMA7A SERAC1 SERPINA1 SERPINA6 SERPINE1 SETD2 SETX SGCA SGCB SGCD SGCG SGPL1 SH2B1 SH2D1A SIL1 SKIC2 SKIC3 SLC10A1 SLC11A2 SLC12A1 SLC12A3 SLC12A6 SLC16A1 SLC17A5 SLC19A1 SLC20A2 SLC22A12 SLC22A4 SLC22A5 SLC25A11 SLC25A13 SLC25A15 SLC25A20 SLC25A26 SLC25A36 SLC25A38 SLC25A4 SLC25A42 SLC26A3 SLC26A4 SLC29A3 SLC2A1 SLC2A2 SLC2A3 SLC2A9 SLC30A10 SLC30A2 SLC30A9 SLC31A1 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC36A2 SLC37A4 SLC39A14 SLC39A4 SLC39A8 SLC3A1 SLC40A1 SLC41A1 SLC4A1 SLC4A2 SLC4A4 SLC51A SLC51B SLC52A1 SLC5A1 SLC5A5 SLC6A18 SLC6A19 SLC6A20 SLC6A3 SLC6A6 SLC6A8 SLC7A7 SLCO1B1 SLCO1B3 SLCO2A1 SMAD4 SMARCAL1 SMCHD1 SMPD1 SNTA1 SNX10 SORD SPATA5 SPEG SPIB SPINK1 SPR SPTA1 SPTB SPTBN1 SPTBN4 SQOR SQSTM1 SRP54 STAR STAT2 STAT6 STEAP3 STIM1 STING1 STK11 STOX1 STX11 STX16 STX1A STXBP2 SUCLA2 SUCLG1 SUGCT SUOX SVIL SYK SYNE1 SYNE2 SYNJ1 TAF1A TAFAZZIN TALDO1 TANGO2 TARS2 TAT TBC1D8B TBCD TBCE TBCK TBK1 TBL1X TBL2 TBX1 TBX19 TBX5 TCAP TCEAL1 TCF4 TCIRG1 TDO2 TDP1 TDP2 TERT TF TFAM TFG TFR2 TG THBD THRB TIA1 TIAM1 TICAM1 TIMM22 TIMMDC1 TJP2 TK2 TKFC TKT TLR3 TMEM126B TMEM127 TMEM165 TMEM199 TMEM260 TMEM270 TMEM43 TMEM67 TMEM70 TMPO TMPRSS15 TMPRSS6 TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNFRSF9 TNFSF11 TNFSF15 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TOP3A TOR1AIP1 TP53 TPM1 TPM2 TPM3 TPO TRAF3 TRAPPC11 TRAPPC2L TRDN TREX1 TRHR TRIM32 TRIO TRIP4 TRMT10C TRMU TRNT1 TRPC6 TRPM6 TRPV4 TSFM TSHB TSHR TTC26 TTN TTPA TTR TUFM TWNK TXNRD2 TYMP UBA1 UBE2A UBE3B UBR1 UCP2 UFD1 UGT1A1 UMOD UNC13D UNC45A UNC93B1 UPB1 UQCRC2 UQCRFS1 UQCRH UROC1 UROD UROS USB1 USP53 USP8 VAC14 VAPB VARS2 VCL VCP VDR VEZF1 VHL VIPAS39 VMA21 VPS13A VPS33A VPS33B VPS37D VPS50 WDR19 WDR35 WDR4 WDR73 WNK1 WNK4 WRN WT1 XDH XIAP XK XRCC4 YARS1 YME1L1 ZBTB20 ZMPSTE24 ZNF699 ZNFX1 ZNRF3 ZPR1 HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION ABCD4 ADK AHCY CBS FAH GNMT LMBRD1 MAT1A MMACHC MMADHC MTHFR MTR MTRR PRDX1 SKIC3 SLC25A13 TFAM HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_CONCENTRATION ABCB11 ABCB4 ABCD3 ABCD4 ACAD8 ACAD9 ACADM ACADS AKR1D1 AMACR AP1B1 ATP8B1 CCDC47 COL7A1 COX16 CPT2 DLD DNAJC21 DNM1L DZIP1L EFL1 EHHADH ETHE1 GATM HADH HADHA KIF12 LMBRD1 LYRM7 MCEE MMACHC MMP1 MT-TE MYO5B NADK2 NDUFAF6 NFU1 NR1H4 PEX26 PKHD1 SBDS SCO1 SEMA7A SLC10A1 SLC25A13 SLC25A20 SLC2A2 SLC34A1 SLC51B SLC52A1 SRP54 TALDO1 TANGO2 TJP2 TRMU UNC45A VPS33B VPS50 HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION AASS ACAD9 ACADM ACADVL ACAT1 ADAMTS13 ALDH18A1 ALDOB ALG11 ALG5 ALG8 ALG9 ALMS1 APRT ARG1 ASL ASS1 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATP7B ATPAF1 ATPAF2 AVPR2 BICC1 BTD C3 CA5A CAD CARS2 CC2D2A CCND1 CD46 CFB CFH CFHR1 CFHR3 CFI CLDN16 COL4A3 COQ7 CORIN COX6B1 CPS1 CPT1A CPT2 CTNS CYC1 DBH DLD DNAJB11 DPYS EHHADH EIF2AK3 ELP1 ERCC4 ERCC6 ERCC8 FAN1 FBP1 FBXL4 FLT1 FOCAD G6PC1 GALNT2 GAMT GANAB GATM GLUD1 GLUL GOT2 GPHN HADH HADHA HADHB HBB HLCS HMGCL HNF1B HNF4A HPRT1 HSD17B10 IARS1 IFT140 INVS LMAN1 LRPPRC MARS1 MCCC1 MCCC2 MCFD2 MECP2 MLIP MMAA MMAB MMACHC MMUT MOCOS MOCS1 MOCS2 MRM2 MRPS22 MRPS7 MT-ATP6 MT-ATP8 MTO1 MUC1 MYC NAGS NBAS NDUFA6 NDUFAF6 NFE2L2 NPHP1 NR1H4 NT5E OCRL OTC PAX2 PCBD1 PCCA PCCB PDHB PFKM PHKA2 PHKB PIGA PKD1 PKD2 PNP POLG PPARG PRPS1 PYGL PYGM REN RINT1 SARS2 SEC61A1 SERAC1 SH2B1 SLC22A12 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC25A36 SLC25A42 SLC2A2 SLC2A9 SLC34A1 SLC37A4 SLC41A1 SLC4A1 SLC4A2 SLC7A7 STOX1 TANGO2 THBD TMEM260 TMEM70 TNFRSF11A TNFRSF11B TREX1 TSFM TTC26 TUFM TYMP UMOD UQCRC2 UQCRH WDR19 XDH ZPR1 HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION AASS ADK ALDH18A1 ALDH5A1 APP ASS1 ATP5F1A CA5A CPS1 DMGDH MPO MRM2 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NOS3 OAT OTC PCK1 PLAU SLC25A13 SLC25A15 SLC7A7 UPB1 USP53 HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION ACAT1 ALDOB ALMS1 ATP7B CLDN16 CTNS DPYS EHHADH FBP1 G6PC1 GATM GPHN HMGCL HNF1B HNF4A HPRT1 LMAN1 MCFD2 MOCOS MOCS1 MOCS2 MUC1 MYC NDUFAF6 OTC PFKM PHKA2 PHKB PNP POLG PPARG PRPS1 PYGL PYGM REN SARS2 SEC61A1 SH2B1 SLC22A12 SLC2A2 SLC2A9 SLC34A1 SLC37A4 TNFRSF11A TNFRSF11B TYMP UMOD XDH HP_ABNORMAL_CIRCULATING_ORNITHINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ORNITHINE_CONCENTRATION AASS ALDH18A1 CA5A OAT SLC25A15 HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL AVP CCDC134 COL2A1 ESR1 FAM20A FN1 SLC34A1 SLC34A3 HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION FTCD GCH1 IMPDH2 NR4A2 PAH PCBD1 PTS QDPR SPR HP_ABNORMAL_CIRCULATING_PHYTANIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PHYTANIC_ACID_CONCENTRATION AMACR PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION ALAD ALAS2 CLPX CPOX ERCC8 FECH GATA1 PPOX UROD UROS HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL CYP11B1 CYP17A1 EIF2B1 FOXL2 HSD3B2 POR HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION ALDH18A1 ALDH4A1 ATP5F1A CA5A COX10 COX16 COX5A LIPT1 NDUFB10 NDUFC2 PDP1 PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20 SLC7A7 TARS2 TNFRSF11B HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION AASS ABCD4 ADK AHCY ALDH18A1 ALDH4A1 AMT ARG1 ASL ASNS ASS1 ATP5F1A ATP5F1B BCAT2 BCKDHA BCKDHB BCKDK BCS1L BOLA3 CA5A CBS CD320 COX10 COX16 COX5A COX8A CPS1 DBT DLD FAH FTCD GCH1 GLDC GLRX5 GLS GLUL GLYCTK GNMT GPHN GUCY2D HAL HCFC1 HPD IBA57 IMPDH2 IRF6 KYNU LIPT1 LMBRD1 MAT1A MCCC1 MCCC2 MCEE MDH1 MICU1 MMAA MMAB MMACHC MMADHC MMUT MTHFD1 MTHFR MTR MTRR NADK2 NAGS NDUFB10 NDUFC2 NFE2L2 NFS1 NFU1 NR4A2 OTC PAH PCBD1 PCCA PCCB PDP1 PET117 PHGDH PNPO PPM1K PRDX1 PRODH PSAT1 PSPH PTS QDPR SARDH SKIC3 SLC19A1 SLC25A13 SLC30A10 SLC36A2 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SPR SUCLG1 TALDO1 TARS2 TAT TDO2 TFAM TNFRSF11B UROC1 HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION ALDH4A1 ASPA ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BCKDHA BCKDHB CA5A COQ9 COX10 COX16 COX5A COX6B1 COX8A CTH DBT DNM1L DTYMK FBP1 FBXL4 FOCAD GAMT HS6ST2 KARS1 LIG3 LIPT2 LMBRD1 LYRM7 MICOS13 MIPEP MMACHC MRPL3 MRPS14 MRPS2 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTHFR MTO1 NAGS NDUFA13 NDUFB10 NDUFC2 NDUFS4 NFS1 NGLY1 PC PDHA1 PDHX PDP1 POLG PRDX1 RRM2B SCO1 SERAC1 SLC25A13 SLC25A4 SLC7A7 TARS2 TMEM126B TMEM70 TRMT10C TYMP UQCRC2 VARS2 HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION AASS ABCA1 ABCC8 ABCC9 ABCG8 ABHD5 ACAD9 ACADM ACADVL ACSL5 ACTA1 ACTC1 ACTN2 ACTN4 ADA2 ADK ADSS1 AFP AGL AGPAT2 AGXT AHCY AIFM1 ALB ALDOA ALG1 ALG12 ALG14 ALG2 ALG6 ALG8 AMACR AMPD1 AMPD3 ANKFY1 ANKRD1 ANLN ANO5 ANXA11 AP1B1 AP1S1 AP1S3 AP5Z1 APOA1 APOC2 APOL1 APPL1 APTX AR ARHGAP24 ARHGDIA ARPC1B ASAH1 ATM ATP5F1D ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B B2M B3GALNT2 B4GALT1 B4GAT1 BAG3 BAG5 BAZ1B BCL10 BCL7B BCS1L BICD2 BIN1 BLK BMP2 BMP6 BMPR1A BSCL2 BUD23 BVES C19orf12 C1QB C1QBP C2orf69 CA2 CACNA1S CAP2 CAPN3 CARD10 CASK CASQ1 CASR CAV1 CAV3 CAVIN1 CBLIF CCBE1 CCDC115 CCDC78 CCN6 CCND1 CCT5 CD244 CD2AP CD55 CEL CFL2 CFTR CHCHD10 CHKB CIDEC CIITA CLIP2 CNBP CNOT1 CNTN1 COA7 COG2 COG6 COG7 COG8 COL12A1 COL25A1 COL4A1 COL4A3 COL6A1 COL6A2 COL6A3 COL7A1 COL9A3 COPA COQ2 COQ8B COX16 COX20 CP CPA1 CPOX CPT1A CPT2 CRB2 CRLF1 CRPPA CRYAB CSF2RA CSF2RB CSRP3 CTLA4 CTNNB1 CTRC DAAM2 DAG1 DCLRE1C DCXR DEF6 DES DGAT1 DGKE DGUOK DHCR7 DHX16 DMD DMGDH DNA2 DNAJB4 DNAJB6 DNAJC21 DNAJC30 DNM2 DNMT3B DOK7 DOLK DPAGT1 DPM1 DPM2 DPM3 DSG1 DSG2 DSP DUOX2 DUOXA2 DUX4 DUX4L1 DYSF EARS2 EFL1 EIF2AK3 EIF4H ELF4 ELN EMD EMP2 ENO3 EPG5 ERCC4 ERGIC1 FAH FAM111B FARSA FARSB FDX2 FGFR3 FHL1 FHL2 FKBP14 FKBP6 FKRP FKTN FLAD1 FLI1 FLNC FN1 FOCAD FOS FOXI1 FOXP3 FRG1 FTH1 FTL G6PD GAA GABRA3 GAPVD1 GATA1 GATAD1 GATB GATC GBE1 GCK GFER GFPT1 GGPS1 GIPC1 GLIS3 GLRX5 GMPPB GNE GNPTAB GNPTG GOLGA2 GOSR2 GPR35 GTF2I GTF2IRD1 GTF2IRD2 GYG1 HACD1 HADH HADHA HADHB HAMP HAND2 HAVCR2 HBB HESX1 HEXB HFE HHAT HINT1 HJV HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMOX1 HNF1A HNF4A HNRNPA1 HNRNPA2B1 HNRNPDL HSPG2 IARS1 IFIH1 IFNG IFNGR1 IGFALS IL10 IL12A IL12RB1 IL1RN IL36RN IL37 IL6 IL6R IL6ST INF2 INPP5K INS INSR IRF5 IRF8 ISCA1 ISCU ITGA3 ITGA7 ITGB2 ITGB4 ITK IYD JAG2 JPH2 KARS1 KBTBD13 KCNA1 KCNE3 KCNJ10 KCNJ11 KCNJ18 KCNN4 KIF12 KIF23 KIT KLF1 KLF11 KLHL41 KLHL9 KLKB1 KNG1 KRT14 KRT5 KY LACC1 LAMA1 LAMA2 LAMA4 LAMB2 LAMP2 LARGE1 LARS2 LDB3 LDHA LHX3 LHX4 LIMK1 LIMS2 LIPE LMNA LMOD2 LMOD3 LPIN1 LPL LRP12 LTBP4 LYRM7 LYST MAD2L2 MAGI2 MATR3 MB MCM10 MEFV MEGF10 MET METTL27 MGME1 MICOS13 MICU1 MIEF2 MIF MKS1 MLIP MLXIPL MMEL1 MPDU1 MPI MPV17 MPZ MST1 MSTO1 MT-CO1 MT-CO3 MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MTMR14 MTTP MVK MYBPC3 MYF6 MYH14 MYH6 MYH7 MYL1 MYL2 MYMK MYO1E MYO5B MYOT MYPN NAB2 NARS2 NCF1 NCF4 NEB NEFH NEFL NEUROD1 NEXN NFKBIL1 NFS1 NGLY1 NLRC4 NLRP1 NLRP12 NLRP3 NOS1 NOS1AP NOTCH2NLC NPHS1 NPHS2 NPPA NPR2 NR1H4 NSUN2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OCRL ORAI1 OSGEP OTUD5 OTULIN PABPN1 PAPPA2 PAX2 PAX4 PAX8 PDK3 PDSS2 PDX1 PET100 PEX6 PFKM PGAM2 PGM1 PHKA1 PHKA2 PHKB PHKG2 PIEZO1 PIEZO2 PIGA PIGN PIGY PIK3CG PIK3R5 PITRM1 PKD2 PKHD1 PKLR PLA2G6 PLCE1 PLEC PLEKHG5 PLG PLIN4 PLN PLVAP PLXNA1 PMM2 PNKP PNPLA2 POGLUT1 POLG POLG2 POLRMT POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POPDC3 POU1F1 POU2AF1 PPARG PPCS PRDM16 PRF1 PRKCD PROP1 PRPS1 PRSS1 PRSS2 PRTN3 PRUNE1 PSEN1 PSEN2 PSMB8 PSTPIP1 PTEN PTPN22 PTPRO PUS1 PYGM PYROXD1 QRICH1 QRSL1 RAF1 RAG1 RAG2 RASA1 RBCK1 RBM20 RBP4 RFC2 RFX5 RFXANK RFXAP RHAG RHCE RHD RILPL1 RNASEH1 RNF168 RNU7-1 RPL3L RRM2B RXYLT1 RYR1 SAR1B SBDS SCARB2 SCN4A SCN5A SCO2 SCYL2 SDHA SDHD SEMA4D SERPINA1 SERPINE1 SETX SGCA SGCB SGCD SGCG SGPL1 SH2D1A SIL1 SKIC3 SLC12A6 SLC16A1 SLC19A1 SLC22A4 SLC22A5 SLC25A13 SLC25A20 SLC25A36 SLC25A38 SLC25A4 SLC25A42 SLC26A4 SLC2A1 SLC30A10 SLC30A9 SLC31A1 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC39A14 SLC40A1 SLC4A1 SLC4A4 SLC5A5 SLC7A7 SLCO2A1 SMAD4 SMCHD1 SPEG SPIB SPINK1 SPTBN4 SQOR SQSTM1 SRP54 STAT2 STAT6 STEAP3 STIM1 STING1 STK11 STX11 STX1A STXBP2 SUCLA2 SUGCT SUOX SVIL SYK SYNE1 SYNE2 SYNJ1 TAF1A TAFAZZIN TANGO2 TBC1D8B TBCD TBK1 TBL2 TCAP TCF4 TDP1 TF TFAM TFG TFR2 TG THRB TIA1 TICAM1 TIMM22 TK2 TKFC TLR3 TMEM165 TMEM199 TMEM270 TMEM43 TMPO TMPRSS15 TMPRSS6 TMTC3 TNFRSF1A TNFSF15 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TOP3A TOR1AIP1 TPM1 TPM2 TPM3 TPO TRAF3 TRAPPC11 TRAPPC2L TRHR TRIM32 TRIP4 TRMU TRPC6 TRPV4 TSFM TSHB TSHR TTC26 TTN TTR TWNK TXNRD2 UBA1 UBR1 UCP2 UNC13D UNC93B1 UQCRFS1 UROS USB1 VAC14 VAPB VCL VCP VEZF1 VMA21 VPS13A VPS33A VPS37D WDR4 WDR73 WT1 XIAP XK YME1L1 ZBTB20 ZNFX1 HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION PHGDH PSAT1 PSPH SLC25A13 SLC7A7 HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION ALDH4A1 AMT ATP5F1A BOLA3 COX8A GLDC GLRX5 GLYCTK IBA57 IRF6 MMAA MMAB MMUT NFS1 NFU1 PCCA PCCB PET117 PHGDH PNPO PSAT1 PSPH SARDH SLC25A13 SLC30A10 SLC36A2 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SUCLG1 HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION AKT1 ALG6 ALMS1 ANOS1 AR B4GALNT1 BAP1 BMP15 BMP6 BNC1 BTG4 CDKN2A CEP112 CHD7 CLN3 CPE CTDP1 CTNNB1 CYB5A CYP11A1 CYP11B1 CYP17A1 DCAF17 DHH DHX37 DMRT3 DMXL2 DUSP6 EIF2B1 ESR1 ESR2 FANCM FEZF1 FGD1 FGF17 FGF8 FGFR1 FKBP6 FOXL2 FSHB FSHR GATA4 GCNA GDF9 GNAS GNRH1 GNRHR HFE HS6ST1 HSD3B2 INSR KISS1 KISS1R LARS2 LEP LEPR LGR4 LHB MAP3K1 MC2R MCM9 MRAP MRPS22 MSH4 NDNF NF2 NFKB2 NHLH2 NNT NR0B1 NR2F2 NR3C1 NR5A1 NSMF NUP107 PDGFB PIK3CA POLA1 POLR3A POLR3H POR PRKAR1A PROK2 PROKR2 PSMC3IP RBM28 SEMA3A SLC39A4 SMARCB1 SMARCE1 SMO SOHLH1 SOX9 SPIDR SPRY4 SRY STAG3 STAR SUFU SYCE1 TAC3 TACR3 TAF4B TERT TP53 TP63 TRAF7 TXNRD2 VAMP7 WDR11 WNT4 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZNRF3 ZSWIM7 HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION AASS ABCD4 ADK AHCY CBS CD320 FAH GNMT GPHN HCFC1 LMBRD1 MAT1A MCEE MMACHC MMADHC MTHFD1 MTHFR MTR MTRR NFE2L2 PRDX1 SKIC3 SLC19A1 SLC25A13 TFAM HP_ABNORMAL_CIRCULATING_T4_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_T4_CONCENTRATION ALG8 ALMS1 DUOX2 DUOXA2 GLIS3 HESX1 IYD KCNJ18 LHX3 LHX4 MAGEL2 NDN OCA2 PAX8 POU1F1 PROP1 SECISBP2 SLC5A5 SNRPN TG THRB TPO TRHR TSHB TSHR HP_ABNORMAL_CIRCULATING_TESTOSTERONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TESTOSTERONE_CONCENTRATION AKT1 ANOS1 AR B4GALNT1 BAP1 BMP6 CEP112 CHD7 CPE CYB5A CYP11B1 CYP17A1 DCAF17 DHH DHX37 DMRT3 DMXL2 DUSP6 ESR1 FANCM FEZF1 FGD1 FGF17 FGF8 FGFR1 FKBP6 FSHB FSHR GATA4 GCNA GNAS GNRH1 GNRHR HFE HS6ST1 HSD3B2 INSR KISS1 KISS1R LEP LEPR LGR4 LHB MAP3K1 MSH4 NDNF NF2 NHLH2 NR0B1 NR2F2 NR3C1 NR5A1 NSMF PDGFB PIK3CA POLA1 POLR3A PRKAR1A PROK2 PROKR2 RBM28 SEMA3A SLC39A4 SMARCB1 SMARCE1 SMO SOX9 SPRY4 SRY SUFU SYCE1 TAC3 TACR3 TAF4B TERT TRAF7 VAMP7 WDR11 WNT4 WT1 WWOX ZFPM2 ZMYND15 HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL DUOX2 DUOXA2 FOXI1 GLIS3 HESX1 IYD KCNJ10 LHX3 LHX4 PAX8 POU1F1 PROP1 SLC26A4 SLC35A2 SLC5A5 TG THRB TPO TRHR TSHB TSHR HP_ABNORMAL_CIRCULATING_THYROID_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROID_HORMONE_CONCENTRATION ALB ALG8 ALMS1 CPE DIO1 DUOX2 DUOXA2 FOCAD GLIS3 HESX1 IRS4 IYD KCNJ18 LHX3 LHX4 MADD MAGEL2 NDN NKX2-5 OCA2 PAX8 POU1F1 PROP1 SECISBP2 SLC5A5 SNRPN TBL1X TG THRA THRB TPO TRHR TSHB TSHR USP9X HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION BCS1L FAH HPD PNPO SLC25A13 TAT TFAM HP_ABNORMAL_CIRCULATING_VITAMIN_E_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_VITAMIN_E_CONCENTRATION AKR1D1 AMACR APOB CYP7A1 DNAJC21 DZIP1L EFL1 FOCAD GBA2 GPR35 MST1 MTTP PKHD1 SBDS SEMA4D SLC30A10 SLC51B SRP54 TCF4 TTPA HP_ABNORMAL_CLAVICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CLAVICLE_MORPHOLOGY ALX4 AMER1 ANTXR1 ARSK ATP7A B4GALT7 BANF1 BCOR BGN BMPR1A CBFB CDC42BPB CDC45 CDC6 CDT1 CEP120 CHD4 CHRNG COL11A1 COL2A1 CSPP1 CTSK DCHS1 DLK1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFNB1 EYA1 FAT4 FBXL3 FGFR1 FGFR2 FGFR3 FIG4 FKBP10 FLNA FLNB GJA1 GLI3 GMNN HHAT HOXD13 HPGD IDUA IFT140 IFT172 IFT80 IFT81 INPPL1 INTU KIAA0586 KIAA0753 KIF7 LBR LEMD2 LMNA LRP5 LRRK1 MBD5 MEG3 MMP14 MMP2 MSX2 MYSM1 NAA10 NEK1 NSDHL ORC1 ORC4 ORC6 PAX1 PCNT PIGL PORCN PTDSS1 PTEN PTH1R RBM8A RNU12 RNU4ATAC RSPO2 RTL1 RUNX2 SALL4 SCARF2 SETBP1 SH3PXD2B SKI SLC26A2 SLC35D1 SOST SRCAP TBCE TBX15 TBX3 TBX5 TNFRSF11A TNFRSF11B TRIP11 TRPV4 TTC21B TWIST1 VAC14 WDR19 WNT3 WNT7A XYLT1 ZMPSTE24 HP_ABNORMAL_CNS_MYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CNS_MYELINATION AARS1 ABAT ABCD1 ACBD5 ACER3 ACOX1 ACTL6B ACY1 ADAR ADARB1 ADAT3 ADGRG1 ADSL AHCY AHDC1 AIFM1 AIMP1 AIMP2 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALG13 ALG14 ALG2 ALG8 ALG9 ALS2 AP3D1 ARF1 ARID1B ARNT2 ARSA ARX ASH1L ASPA ATP11A ATP1A3 ATP6AP2 ATP6V1A ATP9A ATXN2 BCAP31 BCAS3 BCS1L BMP4 BOLA3 BRAT1 C18orf32 C2CD3 C2orf69 CACNA1I CARS1 CDC40 CDK19 CHAMP1 CHKA CLCN3 CLCN7 CLDN11 CLPB CLTC CLTCL1 CNOT3 CNTNAP1 COA8 COPB2 COX14 COX6B1 CSF1R CTC1 CTNNB1 CTSK CUL3 CYB5A CYB5R3 CYP27A1 D2HGDH DAG1 DALRD3 DARS1 DARS2 DDOST DDX6 DHX30 DHX37 DNM1L DOHH DPAGT1 DYRK1A EARS2 EDNRB EIF2AK2 EIF2B1 ELOVL1 ELOVL4 EPRS1 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 EXOC2 EXOC8 EXOSC1 EXOSC2 EXOSC5 EZH2 FA2H FANCB FANCL FAR1 FBP2 FBXL4 FBXO28 FCSK FOCAD FOXP1 FOXRED1 FRMD5 FRMPD4 FUCA1 FUS FZR1 GAA GABRA2 GABRA5 GABRG2 GALC GAN GDAP1 GEMIN4 GET4 GFAP GJC2 GLRX5 GLS GLUL GLYCTK GNAO1 GNB2 GOLGA2 GPT2 GRIK2 GRM7 GTF2E2 GTF2H5 GTPBP3 H4C5 HCFC1 HEXB HIKESHI HLA-DQB1 HLA-DRB1 HS2ST1 HSD17B4 HSPD1 HTRA1 HYCC1 IBA57 IDUA IER3IP1 IFIH1 INSR INTU ISCA1 ISCA2 ITPA KARS1 KCNC2 KCNN2 KCNT1 KDM1A KIDINS220 KIF5A L2HGDH LEMD2 LIAS LIPT1 LIPT2 LMNB1 LMX1B LRPPRC LSM11 MADD MAT1A MCOLN1 MDH2 MED17 MED27 MLYCD MMACHC MMUT MORC2 MPLKIP MT-ND1 MT-ND2 MT-ND3 MTHFS MTTP NACC1 NADK2 NAE1 NARS1 NARS2 NCDN NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEDD4L NEUROD2 NGLY1 NKX6-2 NMNAT1 NOTCH2NLC NRCAM NRROS NUBPL NUP133 NUP188 PARS2 PC PDCD1 PDYN PEX1 PEX10 PEX13 PEX16 PEX19 PEX7 PGAP1 PGAP2 PGAP3 PGM3 PHACTR1 PHGDH PI4KA PIBF1 PIGG PIGL PIGO PIGS PIGU PIGV PIGW PIGY PKDCC PLEKHG2 PLP1 PLPBP PNPT1 POGZ POLR1C POLR2A POLR3A POLR3B POU3F3 PPFIBP1 PPIL1 PPP1R15B PPP2CA PPP2R1A PPP3CA PRF1 PRKDC PRMT7 PRPS1 PRUNE1 PSAP PTEN PURA PYCR2 QARS1 RAB11B RAB3GAP1 RARS1 RBM8A REPS1 RERE RFX7 RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF220 RNU7-1 SAMHD1 SDHB SETD1A SHANK3 SHPK SIGMAR1 SIN3A SLC12A5 SLC16A2 SLC1A2 SLC1A4 SLC25A12 SLC2A1 SLC33A1 SLC35A2 SLC35B2 SLC6A1 SMG9 SMPD1 SMPD4 SNIP1 SNORD118 SOX10 SP110 SPATA5 SPG11 SPTAN1 SPTBN1 SPTLC1 STAMBP STXBP1 SUMF1 TAF13 TAF2 TAOK1 TARS1 TBC1D24 TBCD TGFB1 TIAM1 TIMM22 TIMMDC1 TKFC TMEM106B TMEM126B TMEM147 TMEM163 TMEM240 TMEM63A TMTC3 TNPO2 TNR TPR TRAPPC11 TRAPPC2L TREM2 TREX1 TRIM8 TRMT10A TRMT5 TRNT1 TRRAP TTC26 TUBB4A TUFM TXN2 UBA5 UFC1 UGDH UPB1 VPS11 VPS33A WARS1 WARS2 WDR26 YIF1B YME1L1 YRDC YY1 ZC4H2 ZMIZ1 ZNF148 ZNF335 ZNF526 HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY AHCY F5 LMAN1 MCFD2 SLC37A4 HP_ABNORMAL_COCCYX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCCYX_MORPHOLOGY COLEC10 COLEC11 DCHS1 FAT4 MASP1 SH3PXD2B TAF1 TBX15 TRPV4 HP_ABNORMAL_COCHLEA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCHLEA_MORPHOLOGY ARSG CDH23 CEP78 CIB2 CLRN1 COCH COL4A6 DDX11 ESPN EYA1 FOXI1 FOXP2 GREB1L HAAO HARS1 KCNJ10 MT-TS2 MYO7A NDP ORC1 PCDH15 PEX6 PI4KB POU3F4 SETBP1 SIX1 SIX5 SLC26A4 SRCAP TIMM8A TRRAP USH1C USH1G HP_ABNORMAL_COLUMELLA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COLUMELLA_MORPHOLOGY ACTB ACTG1 AFF3 AIMP2 ALG9 ALX3 ALX4 ARSL ASXL3 ATN1 ATP6V1E1 B3GLCT BICRA CAPN15 CDC42BPB CDH11 CENPF CHST14 CKAP2L CLCN3 CLP1 CREBBP CTCF CTNNB1 CWC27 DNMT3A EDEM3 EP300 ERF EXOSC2 FLI1 GJA1 GJA5 GJA8 H3-3B H4C5 HDAC4 HIVEP2 HNRNPH2 HNRNPR ITCH KAT6A KCNH1 KCTD1 KDM3B KDM5B KDM6A KMT2A KMT2D KMT5B KNL1 LIFR LMBR1 MADD MAN2C1 MBD5 MGAT2 NAA10 NALCN NOG PCDHGC4 PIK3C2A POC1A PPP1R21 PQBP1 RAC1 RDH11 RHOBTB2 RPS6KA3 RYR1 SCNM1 SETD2 SHH SMARCA2 SMG9 SOX11 SRCAP TAF6 TBCD TGDS THOC6 THUMPD1 TRIO TRIP12 TSPEAR TWIST1 UBE2A ZEB2 ZMIZ1 ZNF148 ZSWIM6 HP_ABNORMAL_COMMUNICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COMMUNICATION AARS1 AASS ABCA7 ABHD16A ACAD8 ACADM ACADS ACBD5 ACOX1 ACOX2 ACSF3 ACSL4 ACTB ACTG1 ACTL6B ADAM22 ADAMTS2 ADAMTSL2 ADAR ADARB1 ADAT3 ADCY5 ADD3 ADGRG1 ADGRL1 ADK ADNP ADSL AFF2 AGA AGO1 AGO2 AGTPBP1 AHDC1 AIFM1 AIMP1 AIMP2 ALDH18A1 ALDH4A1 ALDH5A1 ALDH7A1 ALDOA ALG11 ALG12 ALG13 ALG14 ALG2 ALMS1 AMER1 AMFR AMMECR1 AMN AMPD2 ANK3 ANKRD11 ANKRD17 AP1G1 AP1S2 AP2M1 AP3B2 AP4B1 APC2 APP ARF1 ARFGEF1 ARFGEF2 ARHGAP29 ARHGEF2 ARHGEF38 ARID1A ARID1B ARID2 ARL13B ARL6 ARMC9 ARPC4 ARV1 ARX ASH1L ASPA ASPM ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATM ATN1 ATP10A ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP9A ATXN3 AUH AUTS2 B3GALT6 BAP1 BBS1 BBS9 BCAS3 BCL11B BCORL1 BCR BIN1 BLTP1 BMP4 BMPR1B BPTF BRAT1 BRCA1 BRF1 BRPF1 BRWD3 BSCL2 BTK C12orf4 C19orf12 C2CD3 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1G CACNA1I CACNA2D1 CACNA2D2 CAMK2A CAMK2B CAMK2G CAMTA1 CARS1 CARS2 CASK CASZ1 CBL CC2D1A CCDC103 CCDC174 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCDC88A CCND2 CCNK CCNO CDC42 CDH1 CDK10 CDK13 CDK19 CDKL5 CDKN1C CDON CELF2 CENPJ CEP63 CERS1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP74 CHAMP1 CHD2 CHD3 CHD5 CHD8 CHKA CHKB CHMP1A CHMP2B CIC CIT CKAP2L CLCN3 CLCN4 CLDN11 CLIC2 CLN5 CLN8 CLP1 CLPB CLTC CNKSR2 CNNM2 CNOT1 CNOT2 CNTNAP1 CNTNAP2 COA8 COBLL1 COG1 COG4 COG5 COG6 COG8 COL1A1 COL1A2 COL3A1 COPB1 COX10 COX20 COX7B CPLX1 CRADD CRAT CRBN CREBBP CRKL CSNK2A1 CSPP1 CTBP1 CTCF CTNNA2 CUBN CUL3 CUL4B CUX1 CUX2 CWC27 CWF19L1 CYFIP2 CYLD DAG1 DALRD3 DARS2 DCC DCLRE1B DCPS DCX DDX6 DEAF1 DEGS1 DENND5A DHDDS DHPS DHTKD1 DHX30 DISP1 DLG1 DLG3 DLK1 DLL1 DLX4 DMD DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC12 DNAL1 DNM1 DNM1L DNMT3A DOCK3 DOCK6 DOCK7 DOHH DOLK DPAGT1 DPF2 DPH5 DPM2 DPP9 DPYD DPYS DPYSL5 DRC1 DYM DYNC1H1 DYNC1I2 DYNC2I2 DYRK1A EARS2 EBF3 EBP EED EEF1A2 EFTUD2 EHMT1 EIF2AK1 EIF2AK2 EIF2S3 EIF3F EIF4A3 ELP2 EMC1 EMC10 EN1 EP300 ERCC2 ERF ERLIN2 ERMARD EXOSC2 EXOSC3 EXOSC5 EXT2 EXTL3 EZH2 FANCF FAR1 FARS2 FBLN1 FBXL3 FBXO11 FBXO28 FBXW11 FBXW7 FDXR FGF12 FGF13 FGF8 FGFR1 FIBP FIG4 FKRP FKTN FLCN FLII FLNA FMN2 FMR1 FOCAD FOXG1 FOXH1 FOXJ1 FOXP1 FOXP2 FOXRED1 FRA10AC1 FRMD4A FRMPD4 FRRS1L FTCD FTSJ1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALE GALNT2 GALT GAMT GAS1 GAS2L2 GAS8 GATAD2B GATM GCDH GEMIN4 GEMIN5 GET4 GFM1 GFM2 GJA1 GJA5 GJA8 GJB1 GLB1 GLI2 GLRA2 GLS GLYCTK GMNN GMPPA GMPPB GNAI1 GNAI3 GNAO1 GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GOLGA2 GORAB GOT2 GPAA1 GPC3 GPC4 GPHN GPT2 GRB10 GRHL3 GRIA1 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRN GSX2 GUF1 H3-3A H4C11 H4C5 HACE1 HCCS HCN1 HCN4 HDAC4 HDC HECW2 HEPACAM HERC1 HERC2 HID1 HIKESHI HIVEP2 HK1 HMGA2 HNF1B HNMT HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXA2 HOXB1 HS2ST1 HS6ST2 HSD17B10 HSPG2 HTT HUWE1 HYDIN IARS1 IFIH1 IFT172 IFT27 IFT74 IGF1R IGF2 INPP5E INTS1 INTS8 INTU IQSEC1 IQSEC2 IRAK1 IREB2 IRF2BPL IRF6 ISCA2 ITPR1 JAG1 JAG2 KANSL1 KARS1 KAT6A KAT6B KAT8 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNH1 KCNJ10 KCNK4 KCNMA1 KCNN2 KCNQ5 KCNT1 KCTD7 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6B KIAA0586 KIAA0753 KIDINS220 KIF15 KIF1A KIF4A KIF5C KLHL15 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KPNA3 KPTN KRAS KYNU L1CAM LAGE3 LAMA1 LARGE1 LAS1L LEMD3 LHX1 LIG4 LINGO1 LINS1 LIPT2 LMAN2L LMBRD2 LMNB1 LMNB2 LMX1B LNPK LRP5 LRPPRC LRRC32 LRRC56 LSS LTBP4 LUZP1 MAB21L1 MACF1 MADD MAGEL2 MAN2B1 MAN2C1 MAP1B MAPK1 MAPRE2 MAPT MARS1 MAST1 MBD5 MBOAT7 MCIDAS MCM3AP MCOLN1 MCTP2 MDH2 MECP2 MED12 MED12L MED13 MED13L MED23 MED25 MED27 MEF2C MEG3 MEIS2 MESD METTL5 MFF MFSD2A MFSD8 MICOS13 MICU1 MINPP1 MKRN3 MKS1 MMP23B MN1 MORC2 MPDU1 MRAS MRE11 MRPL12 MRPS14 MRPS34 MSL3 MSTO1 MSX1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MTFMT MTHFS MTPAP MYO9A MYT1L NAA15 NACC1 NAGS NALCN NARS1 NAXD NBEA NBN NCAPD2 NCAPG2 NCDN NDE1 NDN NDST1 NDUFA1 NDUFA11 NDUFA13 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NECTIN1 NEDD4L NEK1 NEK10 NEMF NEUROD2 NEXMIF NF1 NFE2L2 NFIB NFIX NGLY1 NHLRC2 NIPA1 NIPA2 NIPBL NLGN3 NLGN4X NME5 NME8 NODAL NONO NOTCH3 NOVA2 NPAP1 NR2F1 NR4A2 NRAS NSD1 NSDHL NSRP1 NSUN2 NTNG1 NTNG2 NTRK2 NUBPL NUDT2 NUP107 NUP54 NUP62 NUS1 NXN OCA2 ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OPHN1 ORC6 OSGEP OTOG OTUD6B OXR1 PACS1 PACS2 PAFAH1B1 PAK1 PAK3 PANK2 PARS2 PBX1 PCDH19 PCGF2 PCYT2 PDE2A PDE4D PDGFRA PDPN PDZD8 PEX1 PGAP1 PGAP2 PGAP3 PGK1 PGM2L1 PHF21A PHF8 PHKA2 PHKB PHKG2 PI4KA PIGA PIGF PIGG PIGM PIGN PIGO PIGP PIGS PIGV PIGW PIK3R1 PLA2G6 PLAA PLAG1 PLCB4 PLCH1 PLEC PLK4 PLP1 PLPBP PMM2 PMPCA PMPCB PNPT1 POGZ POLA1 POLR1D POLR3B POLR3K POLRMT POMGNT2 POMT1 POMT2 POR POT1 POU3F3 POU4F1 PPFIBP1 PPIL1 PPM1D PPP1CB PPP2CA PPP2R1A PPP2R5D PPP3CA PRDM16 PRKAR1B PRKCZ PRKD1 PRKRA PRMT7 PRNP PRODH PRPS1 PRR12 PRUNE1 PSEN1 PSEN2 PSMB1 PSMC1 PSMD12 PSMG2 PTCH1 PTEN PTS PUF60 PUM1 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB3GAP2 RAB5IF RAC1 RAI1 RALA RALGAPA1 RARS1 RARS2 REPS1 RERE RFC1 RFX7 RHOBTB2 RIC1 RIMS2 RLIM RMND1 RNASET2 RNF113A RNF125 RNU7-1 ROGDI RORA RORB RPGR RPL10 RPS6KA3 RRM2B RRP7A RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 RSRC1 RTL1 RTTN RUBCN RUSC2 RYR1 RYR3 SAT1 SATB1 SATB2 SCN1A SCN3A SCN4A SCN8A SCNM1 SDHA SDHAF1 SDHB SDHD SEC23A SELENOI SEMA6B SERAC1 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B4 SFXN4 SGCB SH2B1 SHANK3 SHH SHMT2 SHQ1 SHROOM4 SIAH1 SIK1 SIK3 SIM1 SIN3A SIX3 SKI SLC12A2 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A13 SLC25A36 SLC25A42 SLC25A46 SLC2A1 SLC2A3 SLC30A9 SLC33A1 SLC35A2 SLC35B2 SLC35C1 SLC38A3 SLC39A14 SLC44A1 SLC6A1 SLC6A17 SLC6A19 SLC6A3 SLC6A8 SLC9A6 SLC9A7 SLITRK1 SLITRK2 SMAD6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG9 SMO SMS SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX14 SOBP SOD1 SORL1 SOX11 SOX4 SOX5 SPAG1 SPARC SPART SPATA5 SPEF2 SPEG SPEN SPOP SPP1 SPR SPRED1 SPTBN1 SPTBN2 SPTBN4 SQSTM1 SRCAP SRPX2 ST3GAL3 ST3GAL5 STAG1 STAG2 STAT4 STIL STK36 STRADA STT3A STX1B STXBP1 SUOX SUPT16H SVBP SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TAF2 TAF8 TANC2 TANGO2 TAOK1 TARS2 TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TBK1 TBL1XR1 TBR1 TBX1 TBX4 TCEAL1 TCF20 TCF4 TCTN2 TDGF1 TECR TELO2 TENM3 TENT5A TET3 TFE3 TGIF1 TH THOC2 THOC6 THRB THUMPD1 TIAM1 TIMM50 TIMMDC1 TINF2 TKFC TKT TLK2 TM4SF20 TMCO1 TMEM106B TMEM126B TMEM147 TMEM163 TMEM222 TMEM231 TMEM63C TMEM94 TMLHE TMTC3 TNIK TNNT1 TNPO2 TNR TNRC6B TOE1 TOGARAM1 TOMM40 TOR1A TP53RK TP63 TPK1 TPP1 TPRN TRAF7 TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC2L TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIO TRIP12 TRIP4 TRIT1 TRMT1 TRPM3 TRPV6 TRRAP TSEN15 TSHR TSPAN7 TSPOAP1 TTC12 TTC5 TTI2 TTN TUBA8 TUBB TUBB2A TUBB3 TUBB4A TUBG1 TWIST1 TWIST2 TWNK UBA2 UBA5 UBB UBE2A UBE3A UBE3B UBE4A UBE4B UBTF UFC1 UFM1 UFSP2 UGP2 UGT1A1 UNC80 UQCRQ USP27X USP7 USP9X VAC14 VARS1 VCP VLDLR VPS11 VPS33A VPS37A VPS41 VPS4A WAC WARS1 WARS2 WASF1 WASHC4 WDR26 WDR37 WDR4 WDR45 WDR45B WDR62 WDR73 WDR81 WIPI2 WLS WWOX XPR1 XRCC4 XYLT1 YARS1 YIF1B YME1L1 YWHAG YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB7A ZC4H2 ZEB2 ZIC2 ZMIZ1 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF292 ZNF407 ZNF462 ZNF711 ZSWIM6 HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT AARS1 AASS ABCB7 ABCC8 ABCC9 ABCD1 ABHD5 ACADSB ACKR3 ACO2 ACOX1 ACOX2 ACSL4 ADA2 ADAMTS3 ADARB1 ADAT3 ADD3 ADGRG1 ADNP ADPRS ADSL AEBP1 AFF3 AFF4 AGK AGO1 AGO2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AIMP1 AKT1 ALDH18A1 ALDH1A3 ALDH3A2 ALDH4A1 ALDH7A1 ALG1 ALG11 ALG12 ALG2 ALG3 ALG6 ALG9 ALS2 ALX3 ALX4 AMMECR1 AMPD2 ANAPC7 ANKRD11 ANKRD17 ANTXR1 AP1G1 AP1S2 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARCN1 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARNT2 ARPC4 ARVCF ARX ASCL1 ASH1L ASNS ASXL1 ASXL3 ATAD3A ATG7 ATIC ATM ATOH7 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP8A2 ATP9A ATPAF1 ATPAF2 ATR ATRX ATXN1 AUTS2 B3GALNT2 B3GAT3 B9D1 B9D2 BAP1 BAZ1B BBS1 BBS9 BCAP31 BCAS3 BCL11A BCL7B BCOR BCORL1 BEST1 BICRA BLOC1S3 BLOC1S5 BLTP1 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BUD23 C9orf72 CA8 CABP4 CACNA1A CACNA1B CACNA1F CACNA1G CACNA2D2 CACNA2D4 CAMK2A CAMK2B CAMK2G CAMTA1 CARS1 CASK CASZ1 CBL CBY1 CC2D2A CCDC174 CCDC28B CCDC88C CCNQ CD96 CDC42 CDC42BPB CDC45 CDCA7 CDH11 CDH2 CDH3 CDK13 CDK8 CDKL5 CDON CENPJ CEP104 CEP120 CEP152 CEP290 CEP41 CEP83 CEP85L CHAMP1 CHAT CHCHD10 CHD3 CHD7 CHMP1A CHN1 CHRNA7 CHRNE CHRNG CHST14 CHST3 CLCN3 CLCN4 CLCN6 CLDN11 CLDN16 CLDN19 CLIP2 CLP1 CLTCL1 CLTRN CNOT3 COG1 COG5 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL18A1 COL1A2 COL25A1 COL2A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COL8A2 COLEC11 COMT COQ8A CPLANE1 CPLX1 CPSF3 CRB1 CREBBP CRIPT CRPPA CRYAA CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CTSK CWF19L1 CYB5A CYB5R3 CYP1B1 DAB1 DACT1 DCC DCN DCTN1 DDB1 DDB2 DDHD2 DDOST DDX3X DDX59 DDX6 DEAF1 DGUOK DHCR24 DHCR7 DHODH DHX30 DHX37 DISP1 DKC1 DLAT DLG3 DLG4 DLK1 DLL1 DLL4 DMXL2 DNAJC30 DNM1L DNMBP DNMT3A DOCK6 DOHH DOLK DPAGT1 DPF2 DPM1 DPM2 DPP6 DPYD DPYSL5 DSE DVL1 DVL3 DYNC2LI1 DYRK1A EBF3 EBP EDEM3 EFNB1 EIF2AK2 EIF2AK3 EIF2S3 EIF3F EIF4H ELN ELOVL4 EMC1 EOGT EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD EVC EVC2 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT2 EZH2 FA2H FAM149B1 FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FBLN5 FBN1 FBXL3 FBXO11 FBXO28 FBXW11 FBXW7 FCSK FGD1 FGF10 FGF14 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP6 FKRP FKTN FLI1 FLII FLNA FMR1 FN1 FOXC1 FOXE3 FOXH1 FOXL2 FOXP1 FOXP2 FOXRED1 FRMD4A FRMD5 FRMPD4 FTL FUS FZD2 FZD4 GABRD GALC GALNT2 GAN GAS1 GATA1 GATA4 GATAD2B GBA1 GDF5 GFPT1 GGCX GGT1 GJA1 GJA5 GJA8 GJB6 GJC2 GK GLI1 GLI2 GLRB GLRX5 GMNN GMPPA GMPPB GNA14 GNAO1 GNAQ GNAS GNAT1 GNB1 GNB2 GNB3 GOLGA2 GP1BB GPC4 GPR143 GPR179 GRHL2 GRIA1 GRIA4 GRID2 GRIK2 GRIN1 GRK1 GRM1 GRM6 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H1-4 H3-3A H4C11 H4C3 H4C5 H4C9 HACE1 HADHA HDAC8 HEATR3 HECW2 HERC2 HESX1 HHAT HIBCH HID1 HIRA HK1 HLA-DQB1 HMGB3 HMX1 HNRNPH1 HNRNPH2 HNRNPR HNRNPU HOXA1 HOXA13 HOXB1 HPDL HPS3 HPS5 HPS6 HRAS HSD17B4 HSPD1 HSPG2 HUWE1 HYLS1 IARS2 IDH3A IFT27 IFT74 IGF1R IKBKG IL1RAPL1 INPP5E INPP5K INTS1 IQSEC2 IRF2BPL ISCA1 JAG1 JMJD1C KANSL1 KAT5 KAT6A KAT8 KATNIP KCNA1 KCNAB2 KCNC3 KCNE5 KCNJ13 KCNMA1 KCNN2 KCNV2 KDM1A KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF21A KIF22 KIF7 KLF13 KMT2A KMT2B KMT2D KRAS KRT10 KRT25 KRT71 KRT74 L1CAM L2HGDH LAGE3 LAMA1 LAMB2 LARGE1 LARP7 LARS2 LBR LCA5 LETM1 LGI4 LIG4 LIMK1 LIPH LMBRD2 LMNB1 LMX1B LONP1 LPAR6 LRAT LRIT3 LRMDA LRP5 LRPPRC LRRC32 LUZP1 LYRM7 LYST LZTR1 MAB21L1 MAB21L2 MACF1 MAD2L2 MADD MAFB MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK8IP3 MAPRE2 MAPT MBD5 MC1R MCM3AP MCOLN1 MCTP2 MDH2 MECR MED11 MED12 MED12L MED13 MED13L MED25 MEF2C MEG3 METTL27 METTL5 MFRP MID1 MID2 MKRN3 MKS1 MLXIPL MMP23B MN1 MPDU1 MPDZ MPLKIP MRAS MRPS2 MRPS34 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MTFMT MTOR MTRFR MYF5 MYH3 MYO1H MYO5A MYO9A MYOD1 NAGA NALCN NANS NAXE NBAS NCAPG2 NCDN NCF1 NDN NDP NDST1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEDD4L NEK9 NELFA NEU1 NEUROD2 NEXMIF NF1 NFIX NGLY1 NHLRC2 NHS NIPBL NKX6-2 NMNAT1 NODAL NOG NONO NOP56 NOTCH1 NPAP1 NPC1 NPC2 NPHP1 NR2F1 NRAS NRCAM NRXN1 NSD1 NSD2 NSDHL NSMF NSUN2 NT5C2 NTNG2 NUBPL NUP133 NXN NYX OCA2 OCRL OFD1 OPA1 OPHN1 ORC1 OSGEP OTUD5 OTX2 OVOL2 P4HTM PACS1 PACS2 PAH PAK1 PAK2 PALB2 PAX2 PAX3 PAX6 PBX1 PCDHGC4 PCYT1A PDCD6IP PDE4D PDE6B PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM2L1 PHF21A PHGDH PHIP PHOX2A PHOX2B PI4KA PIBF1 PIDD1 PIEZO2 PIGG PIGL PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PIK3R1 PIK3R5 PITX2 PLA2G6 PLK4 PLOD1 PLP1 PLPBP PLXNA1 PLXND1 PMM2 PNKP PNPLA6 PNPT1 POGZ POLA1 POLG POLR1B POLR1C POLR1D POLR2A POLR3A POLR3B POLRMT POMGNT1 POMK POMT1 POMT2 PORCN POU3F4 POU4F1 PPM1D PPP1R12A PPP1R21 PPP2R5D PQBP1 PRDM13 PRDM16 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRMT7 PRNP PROKR2 PRPS1 PRR12 PRSS12 PRSS56 PSAP PSMC3 PSMD12 PTCH1 PTCH2 PTEN PTPN11 PTRH2 PUF60 PURA PUS3 PUS7 PWAR1 PWRN1 PYCR2 PYROXD1 RAB11B RAB39B RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RAX RBL2 RBM8A RBPJ RECQL4 RERE RET REV3L RFC2 RFWD3 RHO RHOA RIC1 RIT1 RMRP RNASEH1 RNF113A RNF135 RNF2 ROBO1 ROBO3 ROR2 RORA RP1L1 RPE65 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPRY1 RTL1 SAG SALL1 SALL2 SALL4 SAMD9L SARDH SATB2 SBF1 SCN1B SCN2A SCN4A SCN8A SCNM1 SCO2 SCUBE3 SEC23A SEC24C SEMA3E SET SETBP1 SETD2 SETD5 SETX SF3B2 SGPL1 SHANK3 SHH SHMT2 SHOC2 SHROOM4 SIAH1 SIGMAR1 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A6 SLC16A2 SLC17A5 SLC18A3 SLC1A3 SLC24A1 SLC25A1 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC2A1 SLC2A10 SLC30A9 SLC32A1 SLC35A2 SLC35C1 SLC37A4 SLC38A8 SLC39A8 SLC44A1 SLC5A7 SLC6A19 SLC6A8 SLC9A6 SLC9A7 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SNAP25 SNIP1 SNORD115-1 SNORD116-1 SNRPN SOBP SON SOS1 SOS2 SOST SOX11 SOX2 SOX3 SOX4 SOX5 SPATA5 SPATA7 SPECC1L SPEN SPG11 SPG7 SPOP SPRED2 SPTBN1 SPTBN2 SPTLC1 SQSTM1 SRCAP SREBF1 SSR4 STAG1 STRADA STT3A STX1A STXBP1 SUCLA2 SUCLG1 SUFU SUPT16H SYNE1 SYNGAP1 SYNJ1 SYT1 SYT2 TAF1 TAF2 TANGO2 TAOK1 TARDBP TARS1 TASP1 TBC1D23 TBC1D24 TBC1D2B TBC1D7 TBCD TBCK TBK1 TBL1XR1 TBL2 TBX1 TBX15 TBX4 TCEAL1 TCF12 TCF20 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDO2 TELO2 TENM3 TET3 TFAP2A TFAP2B TFE3 TGFBI TGFBR1 TGFBR2 TGIF1 THG1L THOC2 TIMM50 TIMMDC1 TKFC TKT TLK2 TMCO1 TMEM126A TMEM126B TMEM138 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM53 TMEM63C TMEM67 TMEM94 TMEM98 TNPO2 TOGARAM1 TOPORS TOR1A TRAF3IP1 TRAPPC11 TRAPPC6B TREX1 TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRIT1 TRPM1 TRPM3 TSEN15 TSR2 TTI2 TUBA1A TUBB2B TUBB3 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TWNK TYR TYRP1 UBA2 UBAP1 UBE2A UBE2T UBE3A UBE3B UBE4B UBR1 UFC1 UFD1 UFSP2 UNC80 USP7 USP9X VAMP1 VCP VLDLR VPS13A VPS13B VPS37D VPS50 VPS51 VPS53 VRK1 VSX1 WAC WARS2 WASF1 WASHC4 WDR11 WDR26 WDR35 WDR45 WDR73 WDR81 WNT5A WT1 XPA XPC XRCC2 YAP1 YARS2 YME1L1 YY1 ZBTB20 ZC4H2 ZDHHC9 ZEB1 ZEB2 ZFHX4 ZIC1 ZIC2 ZMIZ1 ZNF292 ZNF407 ZNF408 ZNF423 ZSWIM6 HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY AARS1 ACVRL1 AEBP1 AIRE AKT1 ANO10 AP1B1 AP1G1 ASAH1 ASPH ATM BLNK BTD BTK BTNL2 C4A CARS1 CCR1 CD19 CD79A CD79B COL17A1 COL7A1 CR2 CTSA DACT1 DDB2 DKC1 DNASE1L3 ENG ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF FAS FBN1 FERMT1 FGF10 FGFR1 FGFR2 FGFR3 FH FOXC2 FUCA1 GALNT3 GATA1 GDF2 GJB2 GJB6 GLA GNAQ GNAS GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS HMOX1 IARS2 ICOS IFNGR1 IGHM IGLL1 IGSF3 IKZF1 IL10 IL12A IL12A-AS1 IL23R KAT6A KLLN KLRC4 KRAS KRT1 KRT10 KRT14 KRT4 LAMA3 LBR LIG1 LRBA LRRC8A MAB21L1 MANBA MAPT MASP1 MBTPS2 MEFV MMP1 MPLKIP MTTP NAGA NBN NLRP1 NLRP3 NOD2 PAX1 PCNA PEX6 PIEZO1 PIGA PIK3CA PIK3R1 PITX2 PKHD1 PLG POLH PSMB4 PSMB8 PSMB9 PTEN RAG1 RAG2 RECQL RNF113A RNF125 RNF168 SALL1 SAMD9 SASH1 SCN9A SDHB SDHC SDHD SEC23B SETX SF3B2 SHMT2 SLC39A4 SLC39A7 SLCO1B1 SLCO1B3 SMAD4 SPI1 SREBF1 STAT4 STX11 STX16 TACSTD2 TARS1 TCF3 TFRC TKT TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TP63 UBAC2 UBR1 UROD UROS USB1 USF3 VPS33A WAS WIPF1 XPA XPC HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS ACVR2B ALX1 ALX3 ARHGAP31 ARID1A ARID1B ARID2 ARVCF ATP2B1 ATP6V1B2 BAZ1B BCL7B BCOR BICRA BMP2 BRAF BRCA1 BRCA2 BRIP1 BUD23 CACNA1C CASZ1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCNO CCNQ CDK8 CDON CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CHD4 CHD7 CHRM3 CHUK CIROP CITED2 CLIP2 COMT COX7B CXCR2 CXCR4 DACT1 DDX11 DDX3X DDX59 DGCR2 DGCR6 DGCR8 DISP1 DLL1 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DOCK6 DPF2 DPYSL5 DRC1 EHMT1 EIF2AK3 EIF4H ELN EOGT ERCC4 ESS2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF8 FGFR1 FIG4 FKBP6 FKTN FLT4 FOXC2 FOXF1 FOXH1 FOXJ1 GABRD GAS1 GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GDF1 GJA1 GJA5 GJA8 GLI2 GNB2 GNPAT GP1BB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HIBCH HIRA HLA-B HLA-DRB1 HSPG2 HYDIN INTU IPO8 JAG1 JMJD1C KCNAB2 KDR LIMK1 LMNA LRPPRC LRRC56 LUZP1 MAD2L2 MAPKAPK5 MCIDAS MCTP2 MED13L MEGF8 METTL27 MKKS MLXIPL MMP14 MMP2 MMP21 MMP23B MYRF NADSYN1 NCF1 NEK10 NIPA1 NIPA2 NKX2-5 NKX2-6 NME5 NME8 NODAL NOTCH1 NOTCH2 NR2F2 NXN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTUD5 P4HA2 PAH PALB2 PDPN PEX19 PHGDH PIGL PIGN PKD1L1 PLCH1 PLD1 PLXND1 PQBP1 PRDM16 PRKCZ PTCH1 PTPN22 PUF60 QRICH1 RAB23 RAD21 RAD51 RAD51C RAI1 RBM10 RBM8A RBPJ RERE RFC2 RFWD3 RNU4ATAC ROBO1 ROR2 RPGR RPL11 RPL5 RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SALL1 SALL4 SEC24C SEMA3E SF3B2 SF3B4 SH3PXD2B SHH SIX3 SKI SKIC2 SKIC3 SLC35A2 SLC37A4 SLX4 SMAD2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 SPAG1 SPECC1L SPEF2 SPEN SRCAP STAG2 STK36 STRA6 STX1A SUFU TAB2 TBC1D24 TBL2 TBX1 TBX2 TDGF1 TGIF1 TMEM260 TMEM270 TMEM94 TRAF7 TTC12 TUBG1 UBE2A UBE2T UBE4B UFD1 VAC14 VPS35L VPS37D WASHC5 WT1 XRCC2 ZEB2 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYND10 ZNF462 HP_ABNORMAL_CONSUMPTION_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONSUMPTION_BEHAVIOR ABCC8 ACAT1 ADCY3 ADNP AGPAT2 AGRN ALMS1 AQP2 ARID1A ARID1B ARID2 ARNT2 ASH1L ATP10A ATP5F1B AVP AVPR2 BBS9 BRAF BSCL2 BSND CACNA1A CACNA1D CASR CASZ1 CDC73 CDK13 CHAT CHD8 CISD2 CLCNKB CLDN10 CLDN16 COL13A1 CTNNB1 CTNS CYP11B1 CYP11B2 DCDC2 DHPS DNM1 DPF2 DPYD DZIP1L ELP2 EZH2 FGFR1 FOXG1 GABRD GNAS GPR101 GRB10 GRN HERC2 HESX1 HNF1A HNF1B HPSE2 HSD11B2 HSPG2 HTT IFT74 IL6 INSR IRF4 ITPR3 KCNAB2 KCNJ1 KCNJ10 KCNJ11 KCNJ5 KL LARP7 LEP LEPR LRIG2 LUZP1 LZTFL1 MAGEL2 MAN1B1 MAPT MBD5 MC4R MEIS2 MEN1 MKRN3 MMP23B MN1 MYO9A MYT1L NDN NEXMIF NKX2-1 NLRP3 NPAP1 NPHP1 NPHP3 NPHP4 NTRK2 OCA2 OTX2 PACS1 PCDH19 PCSK1 PDPN PDSS1 PGM2L1 PKHD1 PLA2G6 POMC PRDM16 PREPL PRKCZ PROKR2 PSEN1 PTPN22 PWAR1 PWRN1 RERE RFX7 SATB2 SCN4A SETD2 SH2B1 SIM1 SKI SLC12A3 SLC18A3 SLC25A1 SLC25A13 SLC2A3 SLC3A1 SLC41A1 SLC5A2 SLC5A7 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX2 SOX3 SOX4 SPEN SUPT16H SYNGAP1 SYT2 TMEM67 TRANK1 UBE3A UBE4B UCP2 VAMP1 WFS1 YY1 ZNF699 ZSWIM6 HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY ARPC4 CPLX1 CREBBP CTBP1 CTNNB1 DARS1 EXT1 EXT2 FGFRL1 HAAO HNRNPH1 KDM1A LETM1 MNX1 NCAPG2 NELFA NFIA NOTCH3 NSD2 PIGG PIK3CA PRMT7 RAD51 RASA1 SALL1 SUPT16H TRAF7 TRAPPC14 VANGL1 ZMYM2 HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY AGBL1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 KCNJ13 LCA5 LRAT OVOL2 PAX6 PITX2 RPE65 SLC4A11 SPATA7 TCF4 VSX1 ZEB1 HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY AARS1 ABCA12 AEBP1 AIRE ALDH3A2 ALOX12B ALOXE3 BTNL2 C4A CARS1 CCR1 CERS3 CHST6 CLTCL1 COL17A1 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 CRLF1 CTNS DCN DDB2 ELP1 EPCAM ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FAS FBN1 FERMT1 FGF10 FGFR2 FGFR3 FOXC2 GATA1 GJB2 GJB6 GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 IFNGR1 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IL6ST KIFBP KLRC4 KRT3 LBR LMNA MAB21L1 MBTPS2 MEFV MMP1 MPLKIP MPV17 MTTP NGLY1 NIPAL4 NLRP1 NLRP3 NOD2 NTRK1 PAX6 PERCC1 PLCG2 PLEC PNPLA1 POLH PRDM12 PRDM5 RECQL RIPK4 RNF113A RNF125 SCN9A SDR9C7 SLC35C1 SLC39A4 SPINT2 SREBF1 STAT4 SULT2B1 TARS1 TAT TGFBI TGM1 TLR4 TP63 TWIST2 UBAC2 UROD UROS WAS WIPF1 WT1 XPA XPC ZEB1 ZMPSTE24 ZNF469 HP_ABNORMAL_CORNEAL_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_REFLEX ALG11 CLTCL1 DST ELP1 IL6ST KIF1A LIFR NTRK1 RETREG1 SCN9A WNK1 ZFHX2 HP_ABNORMAL_CORNEAL_STROMA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_STROMA_MORPHOLOGY ABCA1 ABCG8 AIRE ALDH18A1 ANKRD55 APOA1 APOA2 APOB APOE ASAH1 B4GAT1 CD247 CHRDL1 CHST6 COL18A1 COL8A2 CTNS CTSA CYP1B1 CYP4V2 DDB2 EPHX2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FLG FOXC1 FOXE3 GALNS GBA1 GHR GLB1 GNAS GNPTAB GNPTG GRHL2 IDS IDUA IL2RA IL2RB JAG1 KERA KRAS KRT12 LCAT LDLR LIFR LIPC LZTR1 MBTPS2 MCOLN1 MMP2 NAGA NDP NLRP3 NOD2 NTRK1 OCLN OVOL2 PAX6 PCSK9 PDGFRB PEX1 PEX2 PEX5 PITX2 PITX3 POMGNT1 PPP1R17 PRDX3 PSMB8 PTPN2 PTPN22 RAB23 RIPK4 SC5D SLC29A3 SLC4A11 SLC4A4 SMARCAL1 SOS2 SREBF1 STAT4 STS TACSTD2 TCF4 TEK TGFBI TRAPPC2 TRPV3 TRPV4 UBIAD1 VSX1 VSX2 WDR73 WT1 XPA XPC ZEB1 HP_ABNORMAL_CORNEA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEA_MORPHOLOGY AARS1 ABCA1 ABCA12 ABCA4 ABCG8 ACTB ACTG1 ADAMTS18 ADNP AEBP1 AGBL1 AGBL5 AGK AHI1 AHR AIPL1 AIRE AKT1 ALDH18A1 ALDH3A2 ALOX12B ALOXE3 ANK1 ANKRD11 ANKRD55 ANTXR1 AP1B1 AP3D1 APC2 APOA1 APOA2 APOB APOE ARCN1 ARHGEF18 ARHGEF2 ARID1B ARL2 ARL2BP ARL3 ARL6 ARPC4 ARSB ARSG ARVCF ASAH1 ASH1L ATAD3A ATOH7 ATP7B B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBS1 BBS2 BBS9 BCL7B BCOR BEST1 BLOC1S3 BMP4 BRCA1 BRCA2 BRD4 BRIP1 BTNL2 BUB1 BUB1B BUB3 BUD23 C1QBP C4A CA4 CACNA1F CAMK2B CAMSAP1 CAMTA1 CARS1 CC2D2A CCDC28B CCDC47 CCR1 CD247 CDH11 CDHR1 CENPF CEP290 CEP57 CEP78 CERKL CERS3 CFAP418 CHD3 CHD4 CHMP1A CHN1 CHRDL1 CHST14 CHST6 CHUK CLDN11 CLDN16 CLDN19 CLIP2 CLRN1 CLTCL1 CNGA1 CNGA3 CNGB1 COL11A1 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COLEC10 COMT COX7B CPAMD8 CPLX1 CRB1 CREBBP CRLF1 CRPPA CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTCF CTDP1 CTNS CTSA CYP1B1 CYP4V2 DACT1 DAG1 DCN DDB2 DDR2 DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHX38 DNAI1 DNAJC21 DNAJC30 DPAGT1 DPYD DSE DST DYM DYRK1A EBF3 EBP EDEM3 EIF4H ELN ELP1 EMC1 EP300 EPCAM EPHX2 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 EXOSC2 EXOSC5 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FBLN5 FBN1 FBXW7 FERMT1 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FIBP FIG4 FKBP14 FKBP6 FKRP FKTN FLG FLI1 FLII FLNA FLNB FOXC1 FOXC2 FOXE3 FOXL2 FRAS1 FSCN2 FUCA1 FZD4 GALNS GALNT2 GATA1 GATAD2B GBA1 GDF6 GHR GJA1 GJA8 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLRB GMPPB GNAQ GNAS GNB5 GNPTAB GNPTG GORAB GP1BB GPR143 GRHL2 GRIA1 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D GUSB H1-4 HARS1 HCCS HDAC4 HDAC8 HGSNAT HIRA HK1 HLA-B HLA-DRB1 HLCS HMGB3 HMX1 HRAS HS2ST1 HSPG2 IARS2 IDH3A IDH3B IDS IDUA IFNGR1 IFT140 IFT172 IFT88 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IL2RA IL2RB IL6ST IMPDH1 IMPG1 IMPG2 INTS1 IQCB1 IQSEC2 JAG1 JAM2 JMJD1C KAT6A KCNJ13 KCNMA1 KCNV2 KDM5B KDM6A KDSR KERA KIAA1549 KIDINS220 KIF11 KIFBP KIZ KLHL7 KLRC4 KMT2B KMT2D KRAS KRT12 KRT14 KRT3 KRT5 LAMA3 LAMB3 LAMC2 LARGE1 LBR LCA5 LCAT LDLR LETM1 LIFR LIG4 LIMK1 LIPC LMBRD2 LMNA LMX1B LRAT LRP5 LTBP2 LZTR1 MAB21L1 MAB21L2 MAD2L2 MAF MAFB MAG MAK MAN2B1 MAP3K7 MAPK8IP3 MAPKAPK5 MAPRE2 MARK3 MBD5 MBTPS2 MCOLN1 MED25 MEFV MEGF8 MERTK METTL27 MIR184 MITF MKS1 MLXIPL MMP1 MMP14 MMP2 MPLKIP MPV17 MT-CYB MT-TS2 MTTP MYO1H MYORG NAA10 NAGA NCAPG2 NCF1 NDP NDUFB11 NEK2 NELFA NEU1 NEUROD2 NFIX NGLY1 NHS NIPAL4 NIPBL NLRP1 NLRP3 NMNAT1 NOD2 NOG NOTCH2 NR2E3 NR2F1 NRAS NRL NSD1 NSD2 NTRK1 OCLN OCRL OFD1 OPN1LW OPN1MW OTUD5 OTX2 OVOL2 P4HTM PACS2 PALB2 PAX2 PAX6 PBX1 PCARE PCSK9 PCYT1A PDE6A PDE6B PDE6G PDGFB PDGFRB PDZD8 PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGG PIGL PIGN PIGQ PIGT PIK3R1 PIKFYVE PITX2 PITX3 PLCB3 PLCG2 PLEC PLK4 PLOD1 PLXND1 PNPLA1 POGZ POLA1 POLH POLR3A POLR3GL POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PPP1R12A PPP1R17 PPP2CA PPP2R5D PRCD PRDM12 PRDM5 PRDX3 PRKAR1B PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRR12 PRSS56 PSMB8 PTEN PTPN2 PTPN22 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAI1 RAX RBM8A RBP3 RBP4 RD3 RDH12 RECQL RECQL4 REEP6 RERE REV3L RFC2 RFWD3 RGR RHO RHOA RIPK4 RLBP1 RNF113A RNF125 RNF2 RNU4ATAC ROBO3 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RREB1 RSPO2 RXYLT1 SAG SALL1 SALL4 SC5D SCAPER SCARF2 SCN9A SCUBE3 SDR9C7 SEC24C SEMA4A SERPING1 SETBP1 SETD2 SETD5 SF3B2 SH3PXD2B SHOC2 SIX6 SLC16A12 SLC20A2 SLC25A24 SLC25A4 SLC29A3 SLC2A10 SLC35C1 SLC38A8 SLC39A4 SLC39A8 SLC4A11 SLC4A4 SLC7A14 SLX4 SMARCAL1 SMC1A SMC3 SMG8 SNRNP200 SOS2 SOX2 SPATA7 SPINT2 SREBF1 ST14 STAT4 STS STX1A STXBP1 SULT2B1 SUMF1 TACSTD2 TARS1 TAT TBC1D20 TBC1D2B TBC1D7 TBCE TBCK TBL1XR1 TBL2 TBX1 TBX15 TBX22 TCEAL1 TCF4 TCTN1 TCTN2 TCTN3 TEAD1 TEK TENM3 TFAP2A TFE3 TGFB2 TGFBI TGM1 TINF2 TKFC TLR4 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TNPO2 TOPORS TP63 TRAPPC2 TRIM37 TRIP13 TRPV3 TRPV4 TTC8 TUB TUBA3D TUBB TUBB4B TULP1 TWIST2 TXNDC15 TYR UBAC2 UBE2T UBE3B UBIAD1 UFD1 UROD UROS USH2A USP45 USP9X VAC14 VARS1 VPS37D VSX1 VSX2 WAC WAS WDR73 WIPF1 WNT3 WT1 XPA XPC XPR1 XRCC2 YAP1 YY1 ZBTB7A ZEB1 ZEB2 ZFHX2 ZFHX4 ZMIZ1 ZMPSTE24 ZNF408 ZNF469 ZNF513 HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY ABCA1 ABCC6 ABCG5 ABCG8 ACTA2 ANAPC7 APOA1 APOA2 APOB APOE BRCC3 CELA2A CEP19 CIROP CYP27A1 CYP7A1 DYRK1B ELN ENPP1 EPHX2 ERCC6 ERCC8 ESR1 FBN1 FOXE3 GHR GLB1 GPIHBP1 HEY2 HGD LDLR LDLRAP1 LIPC LMNA LMX1B LOX LRP6 LZTR1 MAT2A MEF2A MFAP5 MLXIPL MYH11 MYLK NADSYN1 NKX2-6 NT5E PCSK9 PLXND1 PNPLA2 PPARG PPFIBP1 PPP1R17 PRKG1 SERPIND1 SMAD2 SMAD3 SMAD4 SMPD1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TKT XYLT1 XYLT2 YY1AP1 ZNF687 HP_ABNORMAL_CORONARY_ARTERY_ORIGIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_ORIGIN CIROP LZTR1 NADSYN1 NKX2-6 PLXND1 HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY AARS1 ABAT ABHD16A ACER3 ACO2 ACTB ACTG1 ACTL6B ACY1 ADAR ADARB1 ADAT3 ADCY5 ADNP AGTPBP1 AHCY AHDC1 AHI1 AHSG AIFM1 AIMP1 AIMP2 AKT3 ALDH18A1 ALDH6A1 ALDH7A1 ALG12 ALG2 ALG3 ALG8 ALX1 ALX3 ALX4 AMER1 AMFR AMPD2 AMT ANKLE2 ANKRD11 AP1G1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSI ARV1 ARX ASNS ASPM ASXL1 ASXL3 ATAD3A ATG7 ATL1 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP8A2 ATP9A ATPAF2 ATRX B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCAP31 BCAS3 BCL11B BCOR BICD2 BLTP1 BMP4 BRAF BRAT1 BRF1 BRPF1 BUB1 BUB1B BUB3 C12orf57 C2CD3 C2orf69 CACNA1A CACNA1B CACNA1E CACNA1I CACNA2D1 CAMK2A CAMLG CAMSAP1 CARS1 CARS2 CASK CASZ1 CBY1 CC2D2A CCDC174 CCDC47 CCDC88A CCND2 CD96 CDC40 CDC42 CDC42BPB CDH2 CDK10 CDK13 CDK19 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDON CELF2 CENPE CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP290 CEP41 CEP57 CEP63 CEP85L CFC1 CHD3 CHKA CHMP1A CILK1 CIT CLCN3 CLCN4 CLN5 CLP1 CLTC CNKSR2 CNOT1 CNOT3 CNP CNTNAP1 COASY COG2 COG4 COG6 COG7 COL4A1 COPB2 COX7B CPLANE1 CPLX1 CPSF3 CPT2 CREBBP CRIPT CRPPA CSF1R CSPP1 CTBP1 CTNNA2 CTNNB1 CTU2 CUL4B CWF19L1 CYFIP2 CYP11A1 CYP2U1 DACT1 DAG1 DALRD3 DARS1 DARS2 DCC DCHS1 DCX DDB1 DDHD2 DDX3X DDX59 DDX6 DEAF1 DENND5A DHCR24 DHCR7 DHDDS DHX16 DIAPH1 DIS3L2 DISC1 DISP1 DLL1 DMXL2 DNAJB4 DNAL4 DNM1 DNM1L DOCK7 DOHH DONSON DPAGT1 DPF2 DPH1 DPH2 DPYD DPYSL5 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EARS2 EBP ECHS1 EEF1A2 EFNB1 EHMT1 EIF2AK2 EIF2B4 EIF2S3 EMC1 EML1 EMX2 EOMES EP300 EPG5 EPRS1 ERCC2 ERCC3 ERCC5 ERCC6 ERLIN2 ERMARD EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC3 EXOSC8 EXOSC9 EXTL3 FA2H FAM149B1 FANCB FANCD2 FANCI FAR1 FAT4 FBXL4 FBXO28 FBXW11 FCSK FDFT1 FDXR FGF12 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLVCR2 FOXA2 FOXG1 FOXH1 FRA10AC1 FRMD4A FRMPD4 FZR1 GABBR2 GABRA2 GABRA5 GABRB1 GABRB2 GABRD GABRG2 GAD1 GALC GAS1 GBA1 GBA2 GDF1 GET4 GFER GFM1 GFM2 GGT1 GJC2 GLB1 GLDC GLI2 GLI3 GLRX5 GLUL GLYCTK GMPPB GNAO1 GNPTAB GOLGA2 GON7 GOT2 GPC3 GPC4 GPKOW GPSM2 GPT2 GPX4 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GTF2E2 GTF2H5 GTPBP2 H1-4 H3-3A HACE1 HCCS HCN1 HDAC4 HECTD4 HERC1 HESX1 HHAT HIBCH HIC1 HID1 HIVEP2 HK1 HNRNPK HNRNPR HNRNPU HPDL HRAS HS2ST1 HSD17B4 HSPA9 HSPG2 HTRA2 HUWE1 HYLS1 IBA57 IDS IER3IP1 IFIH1 IFT140 IFT27 IFT52 IFT74 IFT80 IGBP1 IGF1R INPP5E IQSEC2 IRF2BPL ITGB6 ITPR1 KANSL1 KAT5 KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNA2 KCNAB2 KCNB1 KCNK4 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM3B KDM4B KDM5B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF26A KIF2A KIF5A KIF5C KIF7 KIFBP KMT2A KMT2C KMT2E KNL1 KPNA3 KRAS L1CAM L2HGDH LAMB1 LARGE1 LETM1 LHX3 LHX4 LIG3 LIG4 LMBR1 LMBRD2 LMNB1 LMNB2 LNPK LONP1 LRP2 LRPPRC LRRC32 LSM11 LSS LUZP1 LYRM7 LYSET MACF1 MAF MAG MAN2B1 MAN2C1 MAP1B MAP2K2 MAPK8IP3 MAPKAPK5 MAPRE2 MAST1 MAST3 MBTPS2 MCM7 MCOLN1 MCPH1 MDH1 MDH2 MED12 MED12L MED23 MED25 MED27 MEF2C METTL5 MFSD2A MID1 MINPP1 MKS1 MLH1 MMP23B MOCS1 MOCS2 MOGS MPDZ MPLKIP MRPS16 MRPS22 MRPS25 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTHFS MTOR MTRFR MYT1L NAA10 NADK2 NAE1 NALCN NANS NARS1 NARS2 NCAPD3 NDE1 NDUFA2 NDUFA8 NDUFAF5 NDUFB11 NDUFB7 NECAP1 NEDD4L NELFA NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NHLRC2 NKX2-1 NKX6-2 NMNAT1 NODAL NONO NOVA2 NPHP1 NR2F1 NRAS NRCAM NRROS NSD1 NSD2 NSRP1 NSUN2 NT5C2 NTN1 NTRK2 NUDT2 NUP188 NUP37 NUS1 OCA2 ODC1 OFD1 OGDHL OPA1 OSGEP OSTM1 OTUD5 OTUD6B OTX2 PACS2 PAFAH1B1 PAH PARS2 PAX6 PCGF2 PCLO PCNT PDE6D PDHA1 PDHB PDHX PDPN PDYN PEX1 PEX16 PEX2 PGAP1 PGAP2 PGAP3 PHC1 PHGDH PI4KA PIBF1 PIEZO2 PIGA PIGB PIGG PIGH PIGL PIGN PIGP PIGQ PIGU PIK3C2A PIK3R2 PITX1 PLAA PLCB1 PLCH1 PLK4 PLP1 PLPBP PLXNA1 PMS2 PNKP PNPT1 POGZ POLG2 POLR1C POLR2A POLR3A POLR3B POLR3GL POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU3F3 PPFIBP1 PPIL1 PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PRDM16 PRKCZ PRKDC PRMT7 PROKR2 PROP1 PRORP PRPS1 PRRX1 PRUNE1 PSAP PSAT1 PTCH1 PTDSS1 PTPN23 PUF60 PUS3 PYCR1 PYCR2 QARS1 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD51 RAI1 RALGAPA1 RARS1 RB1 RBL2 RBM10 RECQL4 RELN REPS1 RERE RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNF220 RNU12 RNU4ATAC RNU7-1 ROBO1 RORA RPGRIP1 RPGRIP1L RPS6KA3 RSPO2 RSPRY1 RTTN RUSC2 RXYLT1 SACS SALL1 SAMHD1 SARS1 SASS6 SCN1A SCN1B SCN2A SCN3A SCN8A SCYL2 SEC31A SEPSECS SETBP1 SETD2 SF3B2 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIK1 SIN3A SIN3B SIX3 SIX6 SKI SLC12A2 SLC12A5 SLC12A6 SLC13A5 SLC1A2 SLC1A4 SLC25A1 SLC25A10 SLC25A19 SLC25A22 SLC25A24 SLC25A46 SLC30A9 SLC32A1 SLC35A2 SLC35B2 SLC38A3 SLC5A6 SLC6A8 SLC6A9 SLC9A6 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG9 SMO SNAP29 SNIP1 SON SOX11 SOX2 SOX3 SOX4 SPATA5 SPATA5L1 SPEN SPG11 SPG21 SPTAN1 SRPX2 SSR4 STAG2 STAMBP STIL STUB1 STXBP1 SUFU SUPT16H SUZ12 SVBP SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TAF13 TAF2 TAF8 TARS1 TARS2 TBC1D20 TBC1D23 TBC1D24 TBC1D7 TBCD TBCE TBCK TCF12 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TGFB1 TGIF1 THOC6 THUMPD1 TIAM1 TMCO1 TMEM106B TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM67 TMEM70 TMTC3 TMX2 TNR TOE1 TOGARAM1 TOPORS TP73 TRAK1 TRAPPC10 TRAPPC12 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIP13 TRMT10A TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTC5 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBG1 TUBGCP2 TXNDC15 TYROBP UBA5 UBE3A UBE3B UBE3C UBE4B UBTF UGP2 UNC80 UPF3B USP7 USP9X VAC14 VAMP2 VANGL2 VARS1 VARS2 VAX1 VPS11 VPS13B VPS41 VPS4A VPS50 VPS51 VPS53 VRK1 VWA3B WAC WARS1 WDR26 WDR35 WDR4 WDR45B WDR62 WDR73 WDR81 WLS WNT3 WT1 WWOX YARS1 YIF1B YWHAE YWHAG YY1 ZBTB18 ZBTB20 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZNF148 ZNF335 ZNF423 ZNF462 ZNF526 ZNF699 ZNHIT3 ZSWIM6 HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY ADAR AIFM1 ASNS ATP13A2 ATXN3 BSCL2 COASY CP DCX FOXP2 FTL GCDH HTT IFIH1 JPH3 LSM11 MECR MT-ATP6 NDE1 NDUFAF5 NEK1 NUP54 NUP62 OPHN1 PDE10A PDE8B PNPT1 POLR3A RANBP2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC2A3 TIMM8A TREM2 TREX1 TUBB2B TUBB3 TYROBP VPS13A HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY ADAMTS10 AGA AKT1 ANKLE2 ANO5 ASPM CCDC134 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CIT CLCN5 CLCN7 COL1A1 COPB2 CYP27B1 CYP2R1 DMP1 ENPP1 FAM111A FARSB FBN1 FLNA GJA1 GLB1 GLE1 HPGD IL6ST KIF14 KIF1A KNL1 LEMD3 LIFR LRP4 LRP5 MAN2B1 MCM7 MCPH1 METTL5 MFSD2A MMP2 NCAPD3 NF1 NSDHL NUP37 PEX19 PHC1 PLEKHM1 PRKG2 PTDSS1 PTH1R PYCR2 RETREG1 SARS1 SASS6 SCN9A SERPINH1 SETBP1 SFRP4 SH3PXD2B SLC34A3 SLC4A2 SLCO2A1 SMS SOST STIL TAF13 TBCE TBXAS1 TCIRG1 TENT5A TGFB1 TMEM53 TNFRSF11A TRAPPC10 TRAPPC14 TRIM37 TRPV4 VDR WARS1 WDR62 WNK1 XYLT2 HP_ABNORMAL_CORTICAL_GYRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_GYRATION ACTB ACTG1 ADAMTS3 ADGRG1 AHDC1 AHI1 AKT3 ALG12 ANKLE2 APC2 ARHGAP31 ARHGEF9 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARX ASCC1 ASNS ASPM ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATXN2 B3GALNT2 B4GAT1 B9D1 B9D2 BICD2 BLTP1 BMPER C2CD3 CAMSAP1 CAMTA1 CASK CBY1 CCBE1 CCDC88A CCND2 CDC40 CDK5 CDK5RAP2 CDK6 CDKL5 CDON CENPE CENPJ CEP104 CEP120 CEP135 CEP152 CEP41 CEP63 CEP85L CILK1 CIT CLP1 COG6 COL18A1 COL25A1 COL3A1 COL4A1 COL4A2 COPB2 CPLANE1 CPT2 CRADD CRPPA CSNK2A1 CSPP1 CTNNA2 CTU2 CUL4B DAG1 DCHS1 DCX DEPDC5 DHCR24 DHX37 DISC1 DISP1 DLK1 DLL1 DMXL2 DOCK6 DONSON DPF2 DYNC1H1 DYNC1I2 EIF2AK2 EML1 EOMES ERCC1 ERMARD ETFA ETFB ETFDH EXOC7 EXOSC5 FAT4 FBXO28 FDFT1 FGF8 FH FIG4 FKRP FKTN FLI1 FLVCR2 FOXG1 FOXH1 FRAS1 FRMD5 FTO GAS1 GFM2 GLI2 GLS GMNN GMPPB GNAO1 GNB1 GON7 GPHN GPSM2 GPX4 GRIN1 GRM7 HIC1 HSD17B4 HYLS1 IBA57 IER3IP1 IFT74 INPP5E ISCA1 KAT5 KAT6B KATNB1 KATNIP KCNA1 KIAA0586 KIAA0753 KIF11 KIF14 KIF21A KIF26A KIF2A KIF5C KIFBP KLHL15 KNL1 LAGE3 LAMA2 LAMB1 LAMC3 LARGE1 LIPT2 LMNB1 LMNB2 LONP1 LRPPRC MACF1 MAGEL2 MAN2C1 MAP1B MAPK8IP3 MAST1 MBOAT7 MCM7 MCPH1 MECP2 MED11 MED27 MEG3 METTL5 MFSD2A MICU1 MKS1 MLYCD MN1 MPDZ MTOR NANS NARS1 NCAPD3 NDE1 NDN NDUFA6 NEDD4L NEK1 NEUROD2 NFIX NODAL NPHP1 NPRL2 NPRL3 NSDHL NSRP1 NUP107 NUP133 NUP37 OCA2 OCLN ODC1 OFD1 OSGEP PAFAH1B1 PAX6 PDCD6IP PDE6D PDHA1 PDHB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHC1 PHGDH PHOX2A PI4KA PIBF1 PIDD1 PIGB PIGP PIGQ PIK3CA PIK3R2 PLAA PLK4 PLP1 PNKP POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POU4F1 PPFIBP1 PPIL1 PPP1R12A PRKDC PSAT1 PTCH1 PTEN PYCR2 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RECQL4 RELN RMND1 RNU12 RNU4ATAC ROBO1 RPGRIP1L RTL1 RTTN RXYLT1 SARS1 SASS6 SCN1B SCN2A SCN3A SEPSECS SF3B4 SHH SHMT2 SIK1 SIN3A SIX3 SLC25A19 SLC25A22 SLC30A9 SLC32A1 SLC5A6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SMPD4 SNAP29 SNRPN SON SOX11 SOX4 SPOP SRD5A3 SRPX2 STAMBP STIL STS SUFU SUZ12 TAF13 TBC1D20 TBC1D24 TBL1XR1 TBR1 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM218 TMEM222 TMEM237 TMEM67 TMTC3 TMX2 TOGARAM1 TP53RK TP73 TPRKB TRAIP TRAPPC10 TRAPPC12 TRAPPC14 TRIM8 TRMT10C TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTC5 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBG1 TUBGCP2 TUBGCP6 TUFM USP18 USP9X VAC14 VIPAS39 VLDLR VPS33B VPS4A WARS1 WDR26 WDR4 WDR62 WDR73 WT1 WWOX XRCC4 YRDC YWHAE ZEB2 ZIC2 ZNF335 ZNF526 ZNHIT3 HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY ABCA1 ACTA1 ADA2 ADCY6 ADGRG1 ADNP AGRN AK9 AKT1 ALG14 ALG2 AMER1 ANKH ANO5 ANTXR1 ASAH1 ATP1A2 ATRX BAG3 BAP1 BICRA BIN1 BMS1 BRAF BTNL2 CA2 CACNA1A CAPN3 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CFL2 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN7 CNTNAP1 COCH COL12A1 COL13A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ COQ6 CRLF1 CRPPA CRYAB DES DKK1 DLL4 DLST DMPK DNAJB6 DNM2 DNMT3A DOK7 DPAGT1 EGR2 EPAS1 EYA1 FGF3 FH FKRP FKTN FRG1 GAN GDF3 GDF6 GFPT1 GJA1 GJC2 GLE1 GMPPB GNAQ GNE GSN HK1 HLA-DRB1 HNRNPA1 HNRNPA2B1 HOXB1 HRAS ITGB4 KARS1 KBTBD13 KIF1B KLHL40 KLHL41 KMT2D KY LAMA2 LAMB2 LARGE1 LMOD3 LRP12 LRP4 LRP5 LZTR1 MAX MDH2 MEGF10 MEN1 MEOX1 MGME1 MPZ MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL2 MYMK MYMX MYO9A MYPN NEB NEFL NF1 NF2 NFU1 NOD2 NR3C1 OSTM1 OTX2 PABPN1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLEKHM1 PLXND1 POLG POLG2 POMT1 POMT2 PRNP PRRT2 PRRX1 PTDSS1 PTRH2 PUF60 RAPSN RET REV3L RRM2B RYR1 SALL4 SCN1A SCN4A SCO2 SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A11 SLC25A4 SLC29A3 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPRED1 SPTBN4 SQSTM1 SRPX2 STAG2 SUCLA2 SUFU SUPT16H SYNE1 SYT2 TCIRG1 TERT TFAP2A TFG TGFB1 TK2 TMEM127 TMEM53 TNFRSF11A TNFSF11 TOR1A TP53 TPM2 TPM3 TRAF7 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 UBE2T USP48 USP8 VAMP1 VCP VHL XRCC2 YME1L1 ZC4H2 ZFHX4 HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY ABCA1 ACTA1 ADA2 ADCY6 ADGRG1 ADNP AGRN AIP AK9 AKT1 AKT3 ALG14 ALG2 AMER1 ANGPTL6 ANKH ANO5 ANTXR1 ASAH1 BAG3 BAP1 BICRA BIN1 BMS1 BRCA1 BRCA2 BRIP1 BTNL2 C4A CA2 CAPN3 CASZ1 CCDC174 CCR1 CDH23 CFL2 CHAT CHCHD10 CHD7 CHKB CHN1 CHRNA1 CHRNB1 CHRND CHRNE CLCN7 CNTNAP1 COL12A1 COL13A1 COL25A1 COL3A1 COL6A1 COL6A2 COL6A3 COLQ CRLF1 CRPPA CRYAB CTLA4 DACT1 DES DKK1 DLL4 DMPK DNAJB6 DNASE1L3 DNM2 DOK7 DPAGT1 ENG ERAP1 ERCC4 ESCO2 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FKRP FKTN FRG1 GABRD GAN GFPT1 GJA1 GJC2 GLE1 GMPPB GNE GSN HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HOXB1 HSPG2 IDH1 IDH2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRF4 ITGB4 KBTBD13 KCNAB2 KIF1B KLHL40 KLHL41 KLRC4 KMT2D KY LAMA2 LAMB2 LARGE1 LMNA LMOD3 LMX1B LRP12 LRP4 LRP5 LUZP1 LYST MAD2L2 MAFB MEFV MEGF10 MEN1 MGME1 MMP23B MPZ MTM1 MTMR14 MTMR2 MTOR MTRFR MUSK MYD88 MYH7 MYL2 MYMK MYMX MYO9A MYPN NAXE NEB NEFL NF2 NLRP3 NOD2 NRAS OSTM1 PABPN1 PALB2 PDGFB PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLXND1 PMP22 POLG POLG2 POMT1 POMT2 PRDM16 PRKCZ PRNP PRTN3 PSAP PTDSS1 PTEN PTPN11 PTPN22 PTRH2 PUF60 RAD51 RAD51C RAPSN RERE REV3L RFWD3 RRM2B RYR1 SALL1 SALL4 SCN4A SCO2 SDHAF2 SDHB SDHC SDHD SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SKI SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A4 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SLX4 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPEN SPTBN4 SQSTM1 SRPX2 STAG2 STAT4 SUCLA2 SUFU SUPT16H SYNE1 SYT2 TBC1D2B TCIRG1 TERT TFAP2A TFG TGFB1 TGFBR3 THSD1 TK2 TLR4 TMEM67 TNFRSF11A TNFRSF1A TNFSF11 TOR1A TPM2 TPM3 TRAF7 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 UBAC2 UBE2T UBE4B UGT1A1 VAMP1 VCP WDR26 XRCC2 YME1L1 ZC4H2 ZFHX4 HP_ABNORMAL_CRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRY ABAT AGRN ALPL ASAH1 ASPA ATP1A3 ATP5F1A ATRX CHAT CHRNA1 CHRND CHRNE COL13A1 COLQ COQ9 CRYAB CTNND2 EXOSC9 FIG4 FKTN FTO GFPT1 GGPS1 HACD1 IGHMBP2 KDM6A KMT2D LAMA2 LAMA3 LAMB2 LYRM4 MAGEL2 MECP2 MYO9A NDUFS8 NIPBL OPA1 PEX19 PNPO PPP1R21 RAPSN RYR1 SCN4A SEMA5A SIM1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPN SYT2 TPM3 TRIP4 TSHR TSPYL1 TTC26 UBA1 VAMP1 VARS1 VPS13B ZNF699 HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION AASS ADK ALDH5A1 AMT ASL BOLA3 DLAT DLD GCH1 GLUL GLYCTK IBA57 LONP1 NADK2 NDUFA4 NFU1 PDHA1 PDHX PET117 PSAT1 HP_ABNORMAL_CSF_HOMOVANILLIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_HOMOVANILLIC_ACID_CONCENTRATION DDC GCH1 IMPDH2 NGLY1 NR4A2 PNPO PTS SLC6A3 TH TSPOAP1 HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION AASS ADAR ADK AIFM1 ALDH4A1 ALDH5A1 AMT ASL ASPA ATP5PO ATPAF2 BOLA3 CLPB COA8 COQ8A COX10 COX11 COX14 COX20 COX4I1 COX6B1 COX8A DARS2 DDC DHFR DLAT DLD DNM1L ECHS1 ERCC6 FARS2 FOXRED1 GCH1 GFM1 GFM2 GLUL GLYCTK HPDL HSD17B10 HTRA2 IBA57 IFIH1 IMPDH2 KARS1 LONP1 LRPPRC LSM11 LYRM4 LYRM7 MDH2 MECP2 MPV17 MRPS34 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NGLY1 NR4A2 NUBPL PDHA1 PDHX PET100 PET117 PNPLA8 PNPO PNPT1 PSAT1 PTS RARS2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPIA RRM2B SAMHD1 SCO2 SLC13A3 SLC25A19 SLC25A4 SLC2A1 SLC31A1 SLC39A8 SLC6A3 SPTBN1 STAT2 SUCLA2 SUCLG1 SURF1 TBK1 TH TICAM1 TIMM50 TIMMDC1 TLR3 TMEM126B TPK1 TRAF3 TRAPPC12 TREX1 TRMT10C TSPOAP1 TXN2 UNC93B1 UQCC2 UQCC3 HP_ABNORMAL_CSF_PROTEIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PROTEIN_CONCENTRATION ABHD5 ALDH4A1 ARSA ATP1A2 BCAT2 BTNL2 CACNA1A CD59 EGR2 FTL GALC GBE1 GFAP HLA-DQB1 HLA-DRB1 LIG3 LMNB1 MICU1 MPZ MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NDUFS4 NGLY1 NOTCH2NLC OCLN PEX7 PHYH PMP22 POLG PRF1 PRNP PRRT2 PRX PSAP RANBP2 RRM2B SCN1A SLC12A2 SLC12A6 SUMF1 TBK1 TICAM1 TLR3 TRAF3 TTR TXN2 TYMP UNC93B1 HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION DLAT LONP1 NDUFA4 PDHA1 PDHX PET117 HP_ABNORMAL_CSF_SERINE_FAMILY_AMINO_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_SERINE_FAMILY_AMINO_ACID_CONCENTRATION AMT BOLA3 GLYCTK IBA57 NFU1 PSAT1 HP_ABNORMAL_CURVATURE_OF_THE_VERTEBRAL_COLUMN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CURVATURE_OF_THE_VERTEBRAL_COLUMN AARS1 ABCB7 ABCC6 ABCC9 ABHD16A ABL1 ACADS ACAN ACP5 ACTA1 ACTA2 ACTB ACTG1 ACTN2 ACVR1 ADAMTS10 ADAMTS2 ADAMTSL2 ADAR ADCY5 ADGRG6 ADNP AEBP1 AFF3 AGA AGRN AHDC1 AHI1 AHSG AIFM1 AIMP1 AIMP2 AIP AK9 AKT1 ALDH18A1 ALDH3A2 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG6 ALG9 ALMS1 ALS2 ALX3 AMER1 ANKRD11 ANKRD17 ANO5 ANTXR1 AP1G1 AP1S2 APC APC2 APTX ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6IP6 ARMC9 ARPC4 ARSB ARSK ARSL ARVCF ARX ASAH1 ASH1L ASXL2 ASXL3 ATAD1 ATAD3A ATG7 ATL1 ATN1 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT7 B9D1 B9D2 BAG3 BANF1 BAP1 BAZ1B BCL7B BCOR BCR BDNF BGN BICD2 BICRA BIN1 BMP1 BMPR1B BPTF BRAF BRCA1 BRCA2 BRF1 BRIP1 BUD23 C1R C1S CACNA1G CACNA1S CADM3 CAMSAP1 CAMTA1 CANT1 CAPN1 CAPN3 CARS1 CASK CASZ1 CAVIN1 CBL CBS CBY1 CC2D2A CCBE1 CCDC22 CCDC32 CCDC47 CCDC8 CCM2 CCN6 CD96 CDC42 CDC42BPB CDC45 CDH11 CDK13 CDK19 CDKL5 CDON CENPE CENPJ CENPT CEP104 CEP120 CEP152 CEP290 CEP41 CFAP410 CFL2 CHAT CHD3 CHD7 CHKA CHMP1A CHRM3 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CIC CLCF1 CLCN4 CLIC2 CLIP2 CLP1 CNOT2 CNP COG1 COG8 COL10A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COLQ COMP COMT COPB1 COQ2 COQ4 COQ6 COX8A CPLANE1 CPLX1 CREBBP CRKL CRLF1 CRPPA CRTAP CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTC1 CTDP1 CTNNB1 CTNND2 CTSK CUL4B CUL7 CYP27A1 CYP7B1 DACT1 DAG1 DCC DCHS1 DCX DDHD1 DDR2 DDRGK1 DDX3X DDX59 DDX6 DEAF1 DEGS1 DES DHCR7 DHX30 DHX37 DICER1 DISP1 DKC1 DKK1 DLG4 DLK1 DLL1 DLL3 DLX5 DMD DMPK DNA2 DNAJC30 DNAJC6 DNM1L DNM2 DNMT3A DNMT3B DOK7 DPAGT1 DPF2 DPM2 DPP6 DPYSL5 DSE DSTYK DUX4 DUX4L1 DVL1 DVL3 DYM DYNC2H1 DYRK1A DYSF EBP ECEL1 EED EFNB1 EGR2 EIF2AK3 EIF4H ELN ELP1 EMC1 EMD ENPP1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 EXOC6B EXOSC5 EXT2 EXTL3 EZH2 FA2H FAM111B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSA FARSB FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXO28 FGD1 FGD4 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP14 FKBP6 FKRP FKTN FLAD1 FLCN FLI1 FLII FLNA FLNB FLRT1 FLVCR1 FMR1 FN1 FOXC2 FOXE3 FOXG1 FOXH1 FOXP2 FOXRED1 FRG1 FUCA1 FUS FUT8 FUZ FXN FZD2 GABBR2 GABRD GAD1 GALNS GAN GARS1 GAS1 GBA1 GBA2 GCH1 GDAP1 GDF3 GDF5 GDF6 GET4 GFAP GFM2 GFPT1 GGPS1 GH1 GJA5 GJA8 GJB1 GJC2 GLB1 GLE1 GLI2 GLIS3 GLS GMPPB GNA11 GNAQ GNAS GNB2 GNE GNPAT GNPTAB GNPTG GNS GORAB GOSR2 GP1BB GPC3 GPC4 GPR101 GRB10 GRIA3 GRIN1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H19 H3-3B H4C5 H4C9 HACD1 HACE1 HDAC4 HECTD4 HERC1 HERC2 HES7 HEY2 HGD HGSNAT HINT1 HIRA HK1 HLA-B HMGA2 HMGB3 HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HPDL HPGD HRAS HS2ST1 HSD17B4 HSPB8 HSPD1 HSPG2 HTRA1 HTT HUWE1 HYAL1 HYCC1 HYLS1 IARS2 IDH1 IDH2 IDS IDUA IFIH1 IFT172 IFT74 IGBP1 IGF2 IGHMBP2 IHH IKBKG IL6ST IMPDH2 INPP5E INPP5K INPPL1 INTS1 IPO8 IQSEC2 IRF6 ITCH ITGA7 ITGB6 JAG1 JAG2 JARID2 JMJD1C JPH1 KANSL1 KAT6B KATNIP KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNN3 KCNQ1OT1 KCNQ2 KCNT1 KDELR2 KDM6A KIAA0586 KIAA0753 KIF1A KIF21A KIF22 KIF5A KLC2 KLHL41 KLHL7 KLLN KMT2A KMT2C KMT2D KMT2E KNSTRN KRAS KRIT1 KY L1CAM LAGE3 LAMA2 LAMB2 LARGE1 LARP7 LBR LEMD3 LETM1 LFNG LGI3 LHX3 LIFR LIG4 LIMK1 LIPE LMNA LMNB1 LMNB2 LMOD3 LMX1B LONP1 LOX LRP4 LRP5 LSM11 LSS LTBP1 LTBP3 LTBP4 LUZP1 LYSET LZTR1 MAD2L2 MADD MAF MAGEL2 MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKBP1 MAPT MARS1 MARS2 MASP1 MAT2A MATN3 MBD5 MBTPS1 MBTPS2 MCM3AP MECP2 MED12 MED12L MED25 MEG3 MEGF10 MEGF8 MEIS2 MEOX1 MESD MESP2 METTL27 MFAP5 MFN2 MGAT2 MGME1 MIA3 MINPP1 MKRN3 MKS1 MLXIPL MMP13 MMP14 MMP2 MMP23B MOGS MORC2 MPL MPLKIP MPZ MRAS MRPS34 MSTO1 MTMR14 MTMR2 MTRFR MTRR MTTP MUSK MVK MYBPC1 MYF5 MYH11 MYH2 MYH3 MYH7 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO1H MYO9A MYOD1 MYPN NAA10 NAA20 NACC1 NALCN NARS1 NCAPG2 NCF1 NDN NDP NDRG1 NDUFA12 NDUFAF1 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS3 NEB NECTIN1 NEDD4L NEFL NEK9 NELFA NEMF NEPRO NEU1 NF1 NF2 NFIX NGLY1 NHP2 NIN NKAP NKX3-2 NKX6-2 NMNAT1 NODAL NONO NOP10 NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NPHP1 NPM1 NPR2 NR4A2 NRAS NRCAM NRXN1 NSD1 NSD2 NSDHL NSUN2 NTNG1 NUP107 NUP85 NUP88 NUS1 NXN OBSL1 OCA2 OCRL OFD1 OGDHL OTUD6B OXR1 P3H1 P4HB P4HTM PACS1 PAFAH1B1 PALB2 PAPSS2 PARN PAX2 PAX3 PAX6 PAX7 PCGF2 PCNT PCYT1A PDCD10 PDE11A PDE6D PDGFRB PDPN PDZD8 PET100 PEX5 PEX7 PGAP2 PGAP3 PGM3 PHACTR1 PHF6 PHF8 PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGG PIGL PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PISD PLAA PLCB1 PLCH1 PLEC PLEKHG5 PLK4 PLOD1 PLOD2 PLOD3 PLP1 PMM2 PMP22 PNKP PNPT1 PODXL POLA1 POLD1 POLE POLG POLR3A POLR3GL POMGNT1 POMK POMT1 POMT2 POP1 POR PORCN POU4F1 PPIB PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PQBP1 PRDM13 PRDM16 PRDM5 PRG4 PRKAR1A PRKCZ PRKD1 PRKG1 PRKG2 PRORP PRPS1 PRUNE1 PRX PSAT1 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PUF60 PUS1 PWAR1 PWRN1 PYCR1 PYCR2 PYROXD1 QRICH1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAC3 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RBBP8 RBCK1 RBM10 RBM28 RBM8A RECQL4 RERE RET RETREG1 RFC2 RFWD3 RIGI RIN2 RIPPLY2 RIT1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNU12 RNU7-1 ROBO3 ROR2 RPGRIP1L RPL10 RPL11 RPL13 RPS6KA3 RRAS RRAS2 RREB1 RRM2B RSPRY1 RTEL1 RTL1 RUNX2 RUSC2 RYR1 RYR3 SACS SALL4 SAMD9 SAMHD1 SATB1 SATB2 SBF1 SBF2 SCARB2 SCN1A SCN2A SCN4A SCN9A SCUBE3 SCYL2 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SELENON SEMA3E SEMA5A SERPINH1 SETBP1 SETD2 SETD5 SETX SF3B2 SF3B4 SFRP4 SGCA SGCG SGMS2 SGSH SH2B1 SH3PXD2B SH3TC2 SHH SHMT2 SHOX SHROOM4 SIGMAR1 SIL1 SIM1 SIN3A SIX3 SKI SLC10A7 SLC12A5 SLC12A6 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC25A21 SLC25A22 SLC25A24 SLC25A42 SLC25A46 SLC26A2 SLC2A10 SLC30A9 SLC35A2 SLC35A3 SLC35B2 SLC37A4 SLC39A13 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SLC6A1 SLCO2A1 SLITRK2 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC5 SMCHD1 SMG9 SMS SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SON SORD SOS1 SOS2 SOX11 SOX4 SOX5 SOX9 SP7 SPARC SPART SPATA5 SPATA5L1 SPEG SPEN SPG11 SPG7 SPRED1 SPRED2 SPRTN SPTBN1 SPTBN4 SPTLC1 SRCAP SRD5A3 SRY SSR4 STAC3 STAG1 STAG2 STAT3 STIL STX1A SUFU SUPT16H SURF1 SUZ12 SVIL SYNE1 SYNE2 SYNJ1 SYT1 SYT2 TAF1 TANC2 TARS1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX2 TBX4 TBX5 TBX6 TCF12 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TELO2 TERC TERT TFAP2A TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THPO THSD4 TINF2 TK2 TLK2 TMCO1 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM38B TMEM43 TMEM63C TMEM67 TMEM94 TMTC3 TNFRSF11B TNNI2 TNNT1 TNNT3 TOGARAM1 TONSL TOR1A TPI1 TPM2 TPM3 TRAIP TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC4 TREX1 TRIO TRIP11 TRIP4 TRMT10A TRPM3 TRPS1 TRPV4 TRRAP TTC19 TTC21B TTC5 TTI2 TTN TTPA TUBA1A TUBB3 TUBB4A TUBGCP4 TUBGCP6 TWIST1 TYMS UBA1 UBE2T UBE3A UBE4B UBTF UFC1 UFD1 UFSP2 UNC80 UPB1 UPF3B USB1 USF3 USP7 USP8 USP9X VAC14 VAMP1 VANGL1 VCP VDR VMA21 VPS13B VPS33A VPS35L VPS37A VPS37D VPS53 WASHC5 WDR11 WDR45B WDR81 WIPI2 WLS WNK1 WNT1 WNT3A WNT5A WRAP53 WT1 XRCC2 XYLT1 XYLT2 YARS2 YIF1B YWHAG ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZIC1 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF407 ZNF423 ZNF469 HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST CASP10 CIITA EPG5 FAS FASLG JAK3 NSMCE3 RAB27A RFX5 RFXANK RFXAP WAS HP_ABNORMAL_DELIVERY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELIVERY ACTA1 ACY1 ADAMTS2 ADNP AGTPBP1 ARSB ASH1L ASXL3 ATP6V0A2 CACNA1D CD109 CDC42BPB CFL2 CHST3 COL1A1 COL1A2 COL25A1 COL3A1 COL5A1 COL5A2 CRTAP CYP11A1 CYP11B1 CYP11B2 DEF6 DHCR7 DST DTYMK EEF1A2 ERGIC1 F2 F8 FGFR3 GP1BA GP1BB HACD1 HERC2 HNRNPK IARS2 ITGA2 ITGA2B ITGB3 KBTBD13 KDM3B KLHL40 KLHL41 LDHA LEMD2 LMOD3 LTBP4 MAGEL2 MCM4 MED12 MKRN3 MKS1 MTHFS MTM1 MYH3 MYPN NEB NPAP1 OPA1 ORC1 PEX1 PIGA PLOD1 POLR3A POR PRKAG2 PTCD3 PTPN23 PWAR1 PWRN1 RBM10 RMRP RNU4ATAC RSPRY1 RYR1 SATB1 SCN4A SCYL2 SERPINH1 SHPK SLC26A2 SLC6A5 SNORD115-1 SNORD116-1 SON SPTBN1 TAF1 TAOK1 TPM2 TPM3 UQCC2 VARS1 ZMPSTE24 ZNF699 HP_ABNORMAL_DENSE_GRANULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENSE_GRANULES AP3B1 BLOC1S5 HPS3 HPS4 HPS5 IKZF5 LYST RUNX1 HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY AXIN2 BRF1 CHD3 COL1A1 COL5A1 COL5A2 CTC1 DEAF1 DKC1 DLX3 DSPP EDA EDARADD ENAM FAM20A FGF3 FGFR1 FLII GALNT3 GJA1 GREM2 IFT122 IFT43 IFT52 IQSEC2 IRF6 LAMB3 LRP6 MSX1 NEK1 NF1 NHP2 NOP10 NPM1 OCRL PARN PAX9 PEX1 PEX6 RAI1 RTEL1 SMOC2 SUMO1 TERC TERT TGFA TINF2 TP63 TYMS USB1 WDR19 WDR35 WNT10A WNT10B WRAP53 HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY AXIN2 BCOR BRF1 CDH11 CHD3 CTC1 DEAF1 DKC1 DLX3 EDA EDARADD ENAM FGF3 FGFR1 FLII GALNT3 GJA1 GREM2 IFIH1 IFT122 IFT43 IFT52 IQSEC2 IRF6 LAMB3 LRP6 MSX1 NEK1 NHP2 NOP10 NPM1 OCRL PARN PAX9 PEX1 PEX6 RAI1 RTEL1 SMOC2 SUMO1 TERC TERT TGFA TINF2 TONSL TP63 TYMS USB1 WDR19 WDR35 WNT10A WNT10B WRAP53 HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY ATN1 CLCN3 CP CYP27A1 DPM1 ERCC6 ERCC8 FTL GFAP PDGFB PDGFRB SLC20A2 SNORD118 WDR81 HP_ABNORMAL_DENTIN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTIN_MORPHOLOGY ACP4 AMELX B3GALT6 BMP1 CCDC134 CDH11 COL1A1 COL1A2 CRTAP DSPP FKBP10 IFITM5 MBTPS2 MIA3 P3H1 P4HB PHEX PPIB SEC24D SERPINF1 SERPINH1 SP7 SPARC TRIP11 ZNF469 HP_ABNORMAL_DERMATOGLYPHICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMATOGLYPHICS ADAMTSL1 ADNP AFF3 AIP ALDH6A1 ANKRD11 APC ARID1B ARL3 ASXL1 ASXL2 ASXL3 ATP6V0A2 ATP6V1B2 ATR AUTS2 B3GLCT B4GALT7 BAZ1B BCL7B BCOR BHLHA9 BICD2 BMP4 BMPR1B BRAF BRD4 BRF1 BUD23 CBL CCBE1 CCDC32 CCNQ CD96 CDC42BPB CDK10 CDK19 CEP55 CEP57 CHD7 CHST14 CHST3 CILK1 CKAP2L CLCN7 CLIP2 COG1 COL17A1 COL25A1 COX14 COX7B CPLX1 CREBBP CSGALNACT1 CSNK2A1 CTBP1 CTCF DDX11 DHCR7 DHODH DHX30 DIS3L2 DLK1 DLX4 DNAJC30 DOCK6 DOK7 DPAGT1 DPH1 DPH2 DPYD DSE EHMT1 EIF4H ELN EP300 ERGIC1 ESCO2 EXT1 EXTL3 EYA1 EZH2 FBXO28 FGD1 FGF9 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FLNA FOXP1 G6PC3 GATA1 GDF5 GJA5 GJA8 GLE1 GLYCTK GNB2 GPKOW GPR101 GRIN1 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C9 HCCS HDAC4 HDAC8 HNRNPK HOXA13 HRAS IFT122 IFT43 IFT57 IGF1 ITCH JARID2 KAT6B KATNB1 KCNH1 KCNK9 KCNMA1 KCNN3 KDM4B KDM6A KIF21A KMT2D KRAS KRT14 LETM1 LIFR LIMK1 LMX1B LONP1 LRP4 LTBP1 LTBP4 LZTR1 MAP1B MAP2K1 MAP2K2 MAP3K7 MCTP2 MED12 MED25 MEF2C MEG3 MEGF8 METTL27 MLXIPL MRAS MSL3 MTFMT MTOR MTX2 MUSK MYH3 MYOD1 NAA10 NAA20 NALCN NBAS NCF1 NDUFB11 NECTIN1 NEXMIF NGLY1 NIPBL NOG NRAS NSD2 NSDHL NUP107 NUP188 NUP88 NXN OTUD5 PACS1 PAX1 PDHA1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM2L1 PIEZO2 PIGL PIGS PKDCC PLAA PLOD3 PNPLA6 POLRMT PORCN PPP2CA PPP2R3C PPP3CA PRR12 PTPN11 PTPRF PUF60 RAB11B RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAPSN RASA2 RB1 RBM10 RFC2 RIN2 RIPK4 RIT1 RNU4ATAC ROR2 RPL10 RPS23 RPS6KA3 RRAS RRAS2 RTL1 SALL4 SCYL2 SEPSECS SET SETBP1 SHOC2 SLC18A3 SLC25A12 SLC25A24 SLC39A13 SMAD2 SMARCA2 SMARCAD1 SMC1A SMC3 SMC5 SMOC1 SMPD4 SMS SOS1 SOS2 SPECC1L SPRED2 SPRTN SPTBN1 STAG1 STX1A STXBP1 TAF6 TASP1 TBL1XR1 TBL2 TBX4 TCF12 TCF4 TELO2 TFAP2A TGDS THOC2 TMEM147 TMEM270 TNNI2 TNNT3 TOE1 TP63 TPM2 TRIM37 TRIM8 TRIO TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TWIST1 TYMS UBE3B UBR1 UBR7 UFC1 VAC14 VPS13B VPS33A VPS37D VPS51 WAC WDR37 XYLT1 YY1 ZMYM2 ZNF292 ZNF462 HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY COL17A1 DSP DST ITGA6 ITGB4 JUP KRT14 LAMA3 LAMB3 LAMC2 PLEC ZAP70 HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY AGBL1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 KCNJ13 OVOL2 PAX6 PITX2 SLC4A11 TCF4 VSX1 ZEB1 HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY ACAN ACP5 ACTA1 ADNP AIP ALPL ANAPC1 ANO5 ANTXR2 ARCN1 ARSB ARSK ATP6V0A2 ATP7A ATRX B2M B3GALT6 B3GAT3 B4GALT7 B9D1 B9D2 BAZ1B BCL7B BCOR BCR BGN BHLHA9 BMP1 BMPR1B BPNT2 BRAF BRF1 BUD23 CA2 CAMK2A CANT1 CBFB CBS CC2D2A CCDC134 CCDC47 CCN6 CDC45 CENPT CEP290 CFL2 CHST3 CILK1 CLCN5 CLCN7 CLIP2 CLTCL1 COG5 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CREB3L1 CRKL CRTAP CSF1R CSGALNACT1 CSPP1 CTC1 CTNS CYP19A1 CYP27B1 CYP2R1 CYP3A4 DDR2 DDRGK1 DLK1 DMP1 DNAJC30 DYM DYNC2H1 DYNC2I1 DYNC2LI1 EFL1 EHHADH EIF2AK3 EIF4H ELN ENPP1 ESCO2 EVC EVC2 EXT1 EXT2 FAM111A FAM20C FBN1 FBN2 FGF23 FGFR1 FGFR2 FGFR3 FIBP FIG4 FKBP10 FKBP6 FLNA FLNB FN1 GALNS GAN GDF5 GJA1 GLB1 GLI1 GLI3 GNAS GNPTG GORAB GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HBB HEATR3 HERC2 HNRNPH1 HOXA11 HPGD HS2ST1 HS6ST1 HSPG2 IARS2 IDH1 IDS IDUA IFIH1 IFT122 IFT172 IFT43 IFT52 IFT57 IHH IL6ST INPPL1 IPO8 KANSL1 KAT6A KDELR2 KIAA0753 KIF22 KIF7 KLHL41 KRAS LAMA5 LBR LIFR LIMK1 LMOD3 LONP1 LRP4 LRP5 LTBP1 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MATN3 MBTPS2 MCTP2 MEG3 MEGF8 METTL27 MKRN3 MKS1 MLXIPL MMP13 MMP9 MPZ MTAP MTX2 NCF1 NDUFAF6 NEB NEK8 NEK9 NEPRO NF1 NFIX NKX3-2 NOTCH2 NPAP1 NPR2 NSD1 OCRL ORC1 ORC6 P3H1 P4HB P4HTM PAPSS2 PCNT PCYT1A PDGFRB PEPD PHEX PLOD2 PMP22 POLR1A POLR3A POLRMT POR PRKACA PRKACB PRKG2 PTDSS1 PTH1R PTPN11 PUS3 PWAR1 PWRN1 PYCR1 RAB23 RAB33B RAD21 RBM8A RECQL4 RFC2 RIPK4 RMRP RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL13 RPS6KA3 RSPO2 RSPRY1 RTL1 RUNX2 SATB2 SCARF2 SEC24D SERPINH1 SETBP1 SF3B2 SFRP4 SGMS2 SH3PXD2B SHOX SKI SLC10A7 SLC26A2 SLC2A2 SLC34A1 SLC34A3 SLC35D1 SLCO2A1 SMOC1 SNORD115-1 SNORD116-1 SNX10 SOST SOX9 SP7 SPARC SPART SPRED1 SPTBN1 STX16 STX1A TBC1D7 TBCE TBL2 TBXAS1 TCIRG1 TCTN1 TCTN2 TCTN3 TENT5A TFE3 TGDS TGFB1 TMEM107 TMEM165 TMEM216 TMEM231 TMEM237 TMEM270 TMEM38B TMEM53 TMEM67 TNFRSF11A TNFRSF11B TNFSF11 TONSL TPM2 TRIP11 TRPS1 TRPV4 TRPV6 TUBB3 TXNDC15 UFSP2 UGP2 VAC14 VDR VPS13B VPS35L VPS37D WDR19 WDR35 WDR62 WNT7A XYLT1 ZBTB20 ZEB2 ZNF699 ZPR1 HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER ABCC9 ACP5 ACTL6B ALG6 AMMECR1 ARHGAP31 ARID1A ARID1B ARSL ATP6V1B2 B3GALT6 B3GAT3 BANF1 BCR BGN BMPR1B BRF1 CANT1 CBFB CCDC22 CHST11 CHST3 CHUK CLCN7 COG4 COL10A1 COL2A1 COMP CREBBP CRIPT CRKL CTSC CTSK CWC27 DDR2 DLK1 DLL4 DOCK6 DSP DVL1 DYNC2LI1 EDA EDA2R EOGT EP300 EVC EVC2 EXOSC2 FGFR2 FIG4 FLNA FLNB FN1 FTO FTSJ1 GATAD2B GDF5 GGCX GJA5 GJA8 GLI1 GNAS GPC3 GPC4 HNRNPR HOXA13 HOXD13 HS2ST1 IARS1 IFT122 IFT43 IFT52 IFT57 IGF2 IHH JAG1 KCNH1 KCNJ8 KCNN3 KDM5C KIF22 KIF7 KNSTRN LBR LEMD3 LMBR1 LMNA LRP4 MACROH2A1 MAP3K7 MAPK1 MCTP2 MEG3 MGP MRPS28 MTOR NALCN NFIX NOG NOTCH1 NOTCH2 NSDHL NXN PAH PCNT PDGFRB PGAP2 PGAP3 PHF6 PIGB PIGF PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3CD PITX1 POC1A POR PPP2R3C PRKACA PRKACB PRMT7 PTCH1 PTHLH RAB3GAP1 RAB3GAP2 RBPJ RMRP RNU4ATAC ROR2 RPS6KA3 RTL1 SALL4 SETBP1 SETD5 SLC25A24 SMARCA2 SMARCB1 SMARCE1 SOST SOX11 SPTBN1 SRCAP STAMBP TBC1D24 TBX3 TFAP2B TGFBR2 TRPS1 TRPV4 TWIST1 UNC80 VAC14 VPS35L WDR19 WDR35 WLS WNT5A ZBTB20 ZMPSTE24 HP_ABNORMAL_DRINKING_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DRINKING_BEHAVIOR AQP2 ARNT2 AVP AVPR2 BBS9 BSND CACNA1D CASR CDC73 CISD2 CLCNKB CLDN10 CLDN16 CTNS CYP11B1 CYP11B2 DCDC2 DZIP1L FGFR1 HESX1 HNF1A HNF1B HPSE2 HSD11B2 IL6 INSR IRF4 ITPR3 KCNJ1 KCNJ10 KCNJ5 KL LRIG2 LZTFL1 NKX2-1 NLRP3 NPHP1 NPHP3 NPHP4 OTX2 PKHD1 PROKR2 PTPN22 SLC12A3 SLC41A1 SLC5A2 SOX2 SOX3 TMEM67 TRANK1 WFS1 HP_ABNORMAL_DUODENUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DUODENUM_MORPHOLOGY ACTG2 ADAM17 ARID1B BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CAMK2A CARD8 CDC45 CDKN1A CDKN1B CDKN2B CDKN2C CDON CENPF CEP57 CFAP45 CHD7 CHST14 DISP1 DLL1 DYRK1A EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN2 FGF8 FGFR1 FLI1 FOXF1 FOXH1 GAS1 GATA1 GLI2 IPO8 KDM3B MAD2L2 MEN1 MYCN MYH11 NODAL PALB2 PIGN PLA2G4A PLG PORCN PTCH1 RAD21 RAD51 RAD51C RARB RBM10 RERE RFWD3 RFX6 RTTN SALL1 SHH SIX3 SLX4 STAG2 STRA6 SUFU SYK TDGF1 TGIF1 TRIP13 TTC7A UBE2T WBP11 WNT7B XRCC2 XYLT2 ZIC2 ZIC3 HP_ABNORMAL_EARLOBE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EARLOBE_MORPHOLOGY ABHD5 AHDC1 ARVCF ATR ATRIP B4GALT7 BCR BICRA BMP4 BRAF BUB1 CDC42BPB CDC6 CDH11 CENPE CENPJ CEP152 CHD7 COL2A1 COL3A1 COMT COX7B CREBBP CRKL CUL4B DHCR24 DNA2 DOCK7 DPYD EBF3 EFTUD2 EHMT1 EIF2S3 ELN EP300 ESCO2 FGD1 FGFR2 FIG4 FLI1 FN1 GJA1 GP1BB GPC3 GPC4 GRIA3 HBA1 HBA2 HCCS HDAC8 HIRA HIVEP2 HMX1 HNRNPH1 HRAS HS2ST1 HYMAI IL1RAPL1 JMJD1C KAT6A KCTD1 KMT2B KMT2C LAS1L MAN2C1 MAPK1 MAPRE2 MED25 MGAT2 MLXIPL NDUFB11 NOTCH2 NR2F1 NSD2 NUP85 OTUD5 PCNT PGAP3 PGM2L1 PHF6 PHIP PIGB PIGL PIGQ PIGY PIK3CA PLAGL1 PLK4 PLXNA1 POLR3A POR PRR12 PTPRF RAC1 RBBP8 RBM10 RDH11 RECQL RREB1 SCARF2 SEC24C SEMA3E SETBP1 SIN3A SLC26A2 SLC35C1 SMARCD1 SMG9 SMOC1 SMS SPEN TBL1XR1 TBX1 TMEM94 TPRKB TRAIP TRIP12 TWIST1 UFC1 UFD1 UGDH VPS13B VPS53 WARS1 WDR4 ZEB2 ZMYM2 ZNF407 HP_ABNORMAL_EAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EAR_MORPHOLOGY A2ML1 AARS1 AASS ABCA12 ABCA4 ABCC1 ABCC6 ABCC8 ABHD5 ACAN ACBD5 ACER3 ACOX1 ACP5 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADA ADA2 ADAM17 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAR ADAT3 ADGRG6 ADGRV1 ADNP ADSL AEBP1 AFF2 AFF3 AFF4 AGA AGBL5 AGO1 AGO2 AGPAT2 AGR2 AGRN AHDC1 AHI1 AHR AHSG AIFM1 AIP AIRE AK2 AKT1 ALDH18A1 ALDH1A2 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANAPC1 ANAPC7 ANK1 ANKH ANKRD11 ANO1 ANTXR1 ANTXR2 AP1G1 AP1S2 AP3B1 AP3D1 AP4E1 APC APC2 ARHGAP29 ARHGEF18 ARHGEF38 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSG ARSL ARVCF ARX ASH1L ASNS ASPRV1 ASXL1 ASXL2 ASXL3 ATIC ATN1 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRIP ATRX AUTS2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL11B BCL7B BCOR BCR BEST1 BHLHA9 BICD2 BICRA BIN1 BLM BLNK BLTP1 BMP1 BMP2 BMP4 BMPER BMPR1A BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BTK BUB1 BUB1B BUB3 BUD23 C12orf57 C1QB C2CD3 C4B CA2 CA4 CACNA1B CACNA1C CACNA1G CACNA2D1 CAMK2A CAMK2G CAMKMT CAMTA1 CANT1 CAPN15 CARMIL2 CARS1 CASK CASZ1 CAV1 CBL CBY1 CC2D2A CCBE1 CCDC103 CCDC22 CCDC32 CCDC39 CCDC40 CCDC47 CCDC50 CCDC65 CCDC8 CCND1 CCNK CCNO CCNQ CD19 CD247 CD3D CD3E CD3G CD4 CD79A CD79B CD81 CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH1 CDH11 CDH2 CDH23 CDHR1 CDK10 CDK13 CDK5RAP2 CDKN1C CDT1 CENPE CENPF CENPJ CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CEP78 CERKL CFAP221 CFAP298 CFAP300 CFAP418 CFAP45 CFAP52 CFAP74 CFI CHAMP1 CHAT CHD3 CHD4 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CIB2 CIITA CILK1 CIT CLCF1 CLCN3 CLCN7 CLCNKA CLCNKB CLIC2 CLIP2 CLRN1 CLTC CNGA1 CNGB1 CNOT1 CNOT2 CNOT3 CNTNAP1 COBLL1 COCH COG1 COG5 COG7 COL11A1 COL11A2 COL13A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A6 COL5A1 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLEC11 COMT COQ6 CORO1A COX7B CPE CPLANE1 CPLX1 CPOX CPT2 CR2 CRB1 CREB3L1 CREBBP CRKL CRLF1 CRPPA CRX CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTH CTLA4 CTNND1 CTNND2 CTSD CTSK CTU2 CUL4B CUL7 CUX1 CWC27 CXCR4 CYBA CYBB CYBC1 CYP4F22 DACT1 DAG1 DCAF17 DCHS1 DCLRE1C DCPS DDB1 DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DENND5A DHCR24 DHCR7 DHDDS DHODH DHPS DHX16 DHX30 DHX37 DHX38 DIAPH3 DIS3L2 DLG1 DLK1 DLL3 DLST DLX4 DLX5 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNM1 DNMT3A DNMT3B DOCK2 DOCK6 DOCK7 DOCK8 DOK7 DONSON DPF2 DPH1 DPH2 DPP6 DPP9 DPYD DPYSL5 DRC1 DSE DSP DST DVL1 DVL3 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP ECE1 EDEM3 EDN1 EDNRA EED EEF1A2 EFEMP2 EFL1 EFTUD2 EGFR EHMT1 EIF2S3 EIF3F EIF4A3 EIF4H EIF5A ELANE ELMO2 ELMOD3 ELN EMC1 ENPP1 EP300 EPAS1 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ESCO2 ESPN ESRP1 ESRRB ETFA ETFB ETFDH EVC EVC2 EXOC2 EXOC7 EXOSC2 EXOSC9 EXT1 EXT2 EYA1 EYA4 EYS EZH2 FAM149B1 FAM161A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXO11 FBXW11 FBXW7 FCGR3A FDFT1 FGD1 FGF10 FGF20 FGF3 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIBP FIG4 FKBP14 FKBP6 FKRP FKTN FLI1 FLII FLNA FLNB FMR1 FN1 FOCAD FOXF1 FOXG1 FOXI1 FOXJ1 FOXL2 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 FSCN2 FTSJ1 FUCA1 FZD2 G6PC3 GABRA3 GABRD GAD1 GALNT2 GAS2L2 GAS8 GATA1 GATA2 GATA4 GBA1 GDF11 GDF5 GDF6 GFRA1 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GK GLB1 GLE1 GLI2 GLI3 GLIS3 GLRA2 GLUL GMNN GNAI3 GNB1 GNB2 GNE GNPTAB GNS GON7 GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPRASP2 GPT2 GPX4 GRB10 GREB1L GRHL3 GRIA3 GRIA4 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B GUSB H19 H3-3A H4C3 H4C5 H4C9 HAAO HARS1 HAX1 HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HECW2 HELLS HEPHL1 HERC1 HES7 HGSNAT HHAT HIRA HIVEP2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGA2 HMGB3 HMX1 HNRNPH1 HNRNPK HOXA13 HOXA2 HOXB1 HOXD13 HRAS HS2ST1 HS6ST2 HSD17B4 HSPA9 HSPG2 HUWE1 HYAL1 HYDIN HYLS1 HYMAI ICOS IDH1 IDH3A IDH3B IDS IDUA IFIH1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IFT81 IFT88 IGBP1 IGF1R IGF2 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IL11RA IL17RA IL1RAPL1 IL21R IL2RB IL2RG IL6R IL6ST IL7R IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IREB2 IRF2BP2 IRF6 IRX5 ITCH ITGA3 ITGA6 ITGA8 ITGB4 ITGB6 JAG1 JAGN1 JAK3 JARID2 JMJD1C JUP KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNAB2 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ2 KCNJ5 KCNK4 KCNK9 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KCTD1 KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDSR KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF15 KIF1A KIF1B KIF21A KIF26A KIF7 KIFBP KIZ KLF13 KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2C KMT2D KMT5B KNSTRN KRAS KYNU LAGE3 LARGE1 LARP7 LAS1L LBR LETM1 LFNG LGI4 LIFR LIG1 LIG4 LIMK1 LIPN LMBRD1 LMBRD2 LMNA LMNB1 LMOD3 LMX1B LONP1 LRAT LRBA LRP2 LRP4 LRP5 LRPPRC LRRC56 LRRC8A LSM11 LSS LUZP1 LZTFL1 LZTR1 MAB21L1 MACF1 MAD1L1 MAD2L2 MADD MAF MAFB MAGEL2 MAGT1 MAK MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MARS2 MASP1 MAX MBD5 MBTPS1 MBTPS2 MCIDAS MCM5 MCTP2 MDH2 MECP2 MED12 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEOX1 MERTK MESD MESP2 METTL27 METTL5 MGAT2 MGP MID1 MID2 MINPP1 MITF MKKS MKS1 MLXIPL MMACHC MMP23B MN1 MNS1 MPDU1 MPDZ MPLKIP MRAS MRPL12 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRTFA MS4A1 MSL3 MSX1 MSX2 MT-TS2 MTHFR MUSK MVK MYCN MYH3 MYMX MYO18B MYO7A MYO9A MYOD1 MYSM1 NAA10 NAA20 NALCN NANS NARS1 NARS2 NBN NCF1 NCF2 NCF4 NCKAP1L NDE1 NDP NDST1 NDUFB11 NEB NECTIN1 NEK1 NEK10 NEK2 NEK9 NELFA NEU1 NEXMIF NF1 NF2 NFIA NFIX NFKB1 NFKB2 NFKBIA NGLY1 NHS NIN NIPA1 NIPA2 NIPAL4 NIPBL NKAP NKX2-1 NME5 NME8 NOG NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NR2E3 NR2F1 NRAS NRCAM NRL NSD1 NSD2 NSDHL NSRP1 NSUN2 NTNG2 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTOF OTUD5 OTUD6B OTX2 P4HA2 PACS1 PAFAH1B1 PAH PAICS PAK1 PAK3 PALB2 PAM16 PAX1 PAX7 PBX1 PCARE PCDH15 PCDHGC4 PCGF2 PCLO PCNT PCYT1A PDE4D PDE6A PDE6B PDE6D PDE6G PDGFRA PDPN PDZD7 PDZD8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PGM1 PGM2L1 PGM3 PHACTR1 PHF6 PHGDH PHIP PHOX2B PI4KB PIBF1 PIEZO1 PIEZO2 PIGA PIGB PIGG PIGH PIGK PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PITX1 PKHD1 PLAA PLAG1 PLAGL1 PLCB4 PLCG2 PLCH1 PLEC PLG PLK4 PLOD1 PLOD3 PLVAP PLXNA1 PLXND1 PMM2 PNP PNPLA6 POC1A POGZ POLA1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU3F3 POU3F4 POU4F1 PPM1B PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R3C PPP2R5D PQBP1 PRCD PRDM16 PRDM5 PRDX1 PREPL PRIM1 PRKAR1B PRKCD PRKCZ PRKDC PRKG2 PROM1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRX1 PRTN3 PRUNE1 PSAT1 PSMB8 PSMC3 PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPN22 PTPRF PUF60 PUM1 PURA PUS7 PYCR1 PYCR2 QARS1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAC2 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RBMX RBP3 RDH11 RDH12 RECQL RECQL4 REEP6 RELB RELN RERE RET RFC2 RFWD3 RFX5 RFX7 RFXANK RFXAP RGR RHO RHOBTB2 RIC1 RIPK4 RIPPLY2 RIT1 RLBP1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF2 RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTL1 RTTN RUNX2 RUSC2 RXYLT1 RYR1 SAG SALL1 SALL4 SAMHD1 SATB1 SATB2 SBDS SC5D SCAPER SCARF2 SCLT1 SCN4A SCNM1 SCYL2 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC24C SEMA3E SEMA4A SEMA5A SEPTIN9 SET SETBP1 SETD1A SETD2 SETD5 SF3B2 SF3B4 SGMS2 SH2B1 SH3KBP1 SH3PXD2B SHANK3 SHOC2 SIAH1 SIM1 SIN3A SIX1 SIX2 SIX5 SKI SKIC3 SLC12A2 SLC12A6 SLC16A2 SLC18A3 SLC1A4 SLC25A1 SLC25A11 SLC25A12 SLC25A24 SLC26A2 SLC26A4 SLC2A1 SLC2A10 SLC35C1 SLC37A4 SLC39A7 SLC39A8 SLC3A1 SLC5A7 SLC6A17 SLC6A8 SLC6A9 SLC7A14 SLC9A6 SLF2 SLX4 SMAD2 SMAD4 SMARCA2 SMARCB1 SMARCD1 SMARCD2 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMG9 SMOC1 SMPD4 SMS SNAP25 SNAP29 SNRNP200 SNRPB SNX10 SOD1 SON SOS1 SOS2 SOST SOX10 SOX11 SOX4 SOX5 SOX6 SOX9 SP7 SPAG1 SPART SPATA7 SPECC1L SPEF2 SPEG SPEN SPI1 SPINT2 SPOP SPRED1 SPRED2 SPTBN1 SRCAP SRD5A3 SRP54 SRY SSR4 STAC3 STAG1 STAG2 STAMBP STAT3 STEEP1 STK36 STRA6 STT3A STX1A STXBP1 SUFU SULT2B1 SUOX SUPT16H SUZ12 SYK SYNE1 SYNGAP1 SYT2 TAB2 TAF1 TAFAZZIN TALDO1 TAOK1 TAP1 TAP2 TAPBP TAPT1 TARS1 TASP1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TCF20 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENM3 TET3 TFAP2A TFAP2B TFE3 TGDS TGFB3 TGM1 THOC1 THOC2 THUMPD1 TIMM8A TLK2 TLR8 TMCO1 TMEM107 TMEM127 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TMEM94 TMIE TNFRSF11A TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNNI2 TNNT3 TNPO2 TNRC6B TOE1 TOGARAM1 TOPORS TOR1A TP53RK TP63 TP73 TPM2 TPM3 TPP2 TPRKB TRAC TRAF7 TRAIP TRAPPC9 TREX1 TRIM32 TRIO TRIP11 TRIP12 TRIP13 TRMT1 TRMT10A TRPS1 TRPV4 TRPV6 TRRAP TSHZ1 TSPEAR TSR2 TTC12 TTC26 TTC5 TTC8 TTI2 TTN TUB TUBA1A TUBB TUBB3 TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBA2 UBB UBE2A UBE2T UBE3B UBE4B UBR7 UFC1 UFD1 UGDH UGP2 UMPS UNC119 UNC80 UPF3B UQCRH USB1 USH1C USH1G USH2A USP26 USP48 USP7 USP9X VAC14 VAMP1 VANGL2 VARS1 VHL VIPAS39 VPS13B VPS33B VPS35L VPS37A VPS37D VPS51 VPS53 VSX1 WAC WARS1 WARS2 WAS WASHC4 WASHC5 WBP11 WDPCP WDR19 WDR26 WDR35 WDR37 WDR4 WDR73 WFS1 WHRN WIPF1 WLS WNT3 WNT4 WNT5A WNT7A WNT7B WNT9B XRCC2 XYLT1 XYLT2 YME1L1 YRDC YWHAE YY1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZNF148 ZNF292 ZNF341 ZNF407 ZNF408 ZNF423 ZNF462 ZNF469 ZNF513 ZNF526 ZNF668 ZNF699 ZNF711 ZNHIT3 HP_ABNORMAL_EATING_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EATING_BEHAVIOR ABCC8 ACAT1 ADCY3 ADNP AGPAT2 AGRN ALMS1 ARID1A ARID1B ARID2 ASH1L ATP10A ATP5F1B BBS9 BRAF BSCL2 CACNA1A CASZ1 CDK13 CHAT CHD8 CLCNKB COL13A1 CTNNB1 DHPS DNM1 DPF2 DPYD ELP2 EZH2 FOXG1 GABRD GNAS GPR101 GRB10 GRN HERC2 HNF1A HSPG2 HTT IFT74 IL6 ITPR3 KCNAB2 KCNJ10 KCNJ11 LARP7 LEP LEPR LUZP1 MAGEL2 MAN1B1 MAPT MBD5 MC4R MEIS2 MEN1 MKRN3 MMP23B MN1 MYO9A MYT1L NDN NEXMIF NKX2-1 NPAP1 NTRK2 OCA2 PACS1 PCDH19 PCSK1 PDPN PDSS1 PGM2L1 PLA2G6 POMC PRDM16 PREPL PRKCZ PSEN1 PTPN22 PWAR1 PWRN1 RERE RFX7 SATB2 SCN4A SETD2 SH2B1 SIM1 SKI SLC12A3 SLC18A3 SLC25A1 SLC25A13 SLC2A3 SLC3A1 SLC5A2 SLC5A7 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SPEN SUPT16H SYNGAP1 SYT2 TRANK1 UBE3A UBE4B UCP2 VAMP1 YY1 ZNF699 ZSWIM6 HP_ABNORMAL_EKG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EKG ABCC9 ACADVL ACTC1 AKAP9 ALG10B ALPK3 ANK2 ATP1A2 ATP1A3 BPTF BRF1 CACNA1A CACNA1C CACNA1D CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CAV3 CAVIN1 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CITED2 CLCNKB CLN3 DBH DCAF17 DMD DNAJC19 DOHH DPAGT1 DSC3 DSG2 DYSF EMD FLNC FXN GAA GABRA3 GATA4 GATA6 GJA5 GMPPB GNAS GNB2 GNB5 GPC3 GPC4 GPD1L GYG1 HADH HCN4 IRX5 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNQ1 LAMP2 MECP2 MEN1 MT-CYB MTFMT MYH6 MYH7 MYL2 MYL3 NEU1 NKX2-5 NOS1AP NPPA PHOX2B PKP2 PLXND1 POLG PRKAG2 PSMD12 RAF1 RANGRF RYR1 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SEMA3A SLC12A3 SLC1A3 SLC4A3 SLC6A8 SLMAP SNTA1 SRY STX16 SVIL TANGO2 TBX20 TBX5 TECRL TLL1 TMEM43 TNNC1 TNNI3K TNNT2 TRDN TRPM4 TTR HP_ABNORMAL_ELASTICITY_OF_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELASTICITY_OF_SKIN AARS1 ABCA12 ABCC6 ABL1 ACD ADAMTS2 ADAMTSL2 AEBP1 AIP AKT3 ALDH18A1 ALG12 ALG8 ALOX12B ALOXE3 ANTXR1 ARMC5 ASPRV1 ASXL1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATRX B3GALT6 B3GAT3 B4GALT1 B4GALT7 BAZ1B BCL11B BCL7B BGN BRAF BUD23 C1R C1S CD96 CDH23 CDK13 CDKN2A CEP55 CFTR CHST14 CHST3 CLIP2 COG7 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COPB1 CSPP1 CSTA CTNNB1 CUL4B CYP4F22 DKC1 DLG4 DLK1 DNAJC30 DSE EBP EDA EED EFEMP2 EHMT1 EIF4H ELN ENPP1 EXT1 EZH2 FBLN5 FBN1 FGD1 FGF20 FGFR2 FGFR3 FIG4 FKBP14 FKBP6 FLNA FOXC1 GATA1 GBA1 GGCX GNAS GNB2 GORAB GPX4 GSN GTF2I GTF2IRD1 GTF2IRD2 H1-4 H4C5 HPGD HRAS IARS1 IFT140 IFT43 INPPL1 INSR IPO8 KCNH1 KCNMA1 KCNN3 KIAA0586 KIF22 KMT2C KRAS LIMK1 LIPN LMNA LOX LSS LTBP1 LTBP4 LZTR1 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPRE2 MEG3 MEGF8 METTL27 MGP MICU1 MLXIPL MRAS MRPS16 MRPS22 MTAP NAA10 NBAS NCF1 NDUFB10 NDUFB11 NEPRO NIPAL4 NPR2 NR3C1 NSD1 OTUD5 PAH PARN PAX2 PDE11A PDGFRB PEX1 PIGQ PIK3R1 PITX2 PLOD1 POLD1 PRDM5 PRKAR1A PRMT7 PTDSS1 PTEN PTPN11 PUF60 PYCR1 RAD21 RAF1 RFC2 RIN2 RIT1 RPS6KA3 RTEL1 RTL1 SDR9C7 SH3PXD2B SHOC2 SKI SLC25A24 SLC26A2 SLC2A10 SLC39A13 SLC6A8 SLC7A7 SMAD2 SMAD3 SMARCA2 SMARCAD1 SMARCD2 SON SPARC SPEN SPINT2 SRD5A3 STX1A SULT2B1 SUZ12 TBL1XR1 TBL2 TBX15 TERT TGFB2 TGFBR1 TGFBR2 TGM1 TGM5 TINF2 TMEM270 TNXB TP53 TRAF7 TRIP4 TRPS1 TUBB TWIST2 USP48 USP8 VAC14 VPS37D WDR19 WDR35 WDR37 WDR81 WLS WRN XYLT1 XYLT2 YY1 ZMPSTE24 ZNF469 ZNRF3 HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN ABCC6 ABCC9 AKAP9 ANK2 ARSB BANF1 BVES CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 DLST DNMT3A EPAS1 FH GAA GFM2 GNB2 GNB5 GPD1L HCN4 HEPHL1 KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ5 KCNJ8 KCNQ1 KIF1B LMNA MAX MDH2 MYH6 MYH7 MYO1H MYPN NF1 NOS1AP NPPA PEX5 PKP2 PRKAG2 RANGRF RET RYR1 RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SDHA SDHAF2 SDHB SDHC SDHD SEMA3A SGO1 SLC25A11 SLMAP SNTA1 TBX5 TMEM127 TNNI3K TNNT2 TPM2 TPM3 TRDN TRPM4 VHL HP_ABNORMAL_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTRORETINOGRAM ABCA4 ACOX1 ADAR ADGRV1 AGBL5 AGK AHI1 AHR AIPL1 ALG3 ARHGEF18 ARL2BP ARL3 ARL6 ARSG ATF6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CDH23 CDHR1 CEP104 CEP19 CEP290 CEP78 CERKL CFAP418 CHM CIB2 CLCC1 CLN3 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COL25A1 CRB1 CRX CWC27 CYP4V2 DHDDS DHX38 EMC1 ESPN EYS FAM161A FLVCR1 FSCN2 GDF6 GNAT1 GNAT2 GNB3 GNB5 GPR179 GRK1 GRM6 GUCA1A GUCA1B GUCY2D HADHA HARS1 HGSNAT HSD17B4 IDH3A IDH3B IDS IFT140 IFT172 IFT27 IFT74 IFT88 IMPDH1 IMPG1 IMPG2 IQCB1 KCNJ13 KIAA1549 KIF21A KIF3B KIZ KLHL7 LARGE1 LCA5 LRAT LRIT3 LRTOMT LZTFL1 MAK MCOLN1 MERTK MFRP MKKS MKS1 MT-ATP6 MT-TS2 MYO7A NEK2 NMNAT1 NOTCH3 NPHP1 NR2E3 NRL NUP54 NUP62 NYX OFD1 OPN1LW OPN1MW OPN1SW PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX12 PHOX2A PIEZO2 PNPLA6 POGZ POMGNT1 PPT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 RDH5 REEP6 RGR RHO RLBP1 RNF216 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SCAPER SCLT1 SDCCAG8 SEMA4A SLC24A1 SLC25A4 SLC7A14 SNRNP200 SPATA7 SSBP1 SUCLA2 TIMM8A TIMP3 TKFC TLCD3B TOPORS TPP1 TRIM32 TRPM1 TTC8 TTLL5 TUB TUBA1A TUBB2B TUBB3 TUBB4B TULP1 UCHL1 USH1C USH1G USH2A USP45 VSX1 WDPCP WHRN WWOX ZNF408 ZNF513 ZNF699 HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR ABCA12 ABCA2 ABCC6 ABCC8 ACAT1 ACOX1 ACTN4 ADAR ADAT3 ADNP ADSL AFF2 AGO1 AGO2 AIFM1 AIP AKT1 ALAD ALDH4A1 ALDH5A1 ALDH7A1 ALG13 ALG14 ALG9 ALPL AMPD2 AMT ANG ANK3 ANKFY1 ANLN ANXA11 AP1G1 AP1S2 AP2M1 APC2 APOL1 AQP2 ARG1 ARHGAP24 ARHGDIA ARID1A ARID1B ARID2 ARMC5 ARPC4 ARSA ARV1 ARX ASAH1 ASH1L ASL ASNS ASPA ASS1 ASXL1 ASXL3 ATG7 ATP10A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP5F1A ATP6V0A1 ATP7B ATP9A ATRX ATXN1 ATXN10 ATXN2 AUH AVP AVPR2 B4GALNT1 BAP1 BCAP31 BCL11A BCOR BCORL1 BCS1L BMP6 BMPR1A BPTF BRAF BRF1 BSND C12orf4 C12orf57 C19orf12 C4A C9orf72 CABP4 CACNA1A CACNB4 CAMK2A CAMK2B CAMK2G CAMTA1 CARS1 CASK CASR CASZ1 CCNF CCR1 CD2AP CDC42BPB CDH2 CDH23 CDKL5 CDKN2A CDON CEP104 CEP152 CEP290 CEP85L CFAP410 CHCHD10 CHD2 CHD5 CHD7 CHD8 CHKA CHMP2B CHRNA2 CHRNA4 CHRNB2 CILK1 CLCN2 CLCN3 CLCN4 CLCNKA CLCNKB CLN3 CLN5 CLN8 CLP1 CLTCL1 CLTRN CNP CNTNAP2 COG4 COL4A3 COQ2 COQ8B CP CPS1 CRB1 CRB2 CRBN CREBBP CRH CTNNB1 CTSF CUL4B CUX2 CYP27A1 CYP27B1 CYP2R1 DAAM2 DAO DARS1 DCDC2 DCHS1 DCTN1 DCX DDC DDX3X DEAF1 DEPDC5 DGCR2 DGCR6 DGCR8 DHCR7 DISP1 DLL1 DMXL2 DNAJC13 DNAJC6 DNM1 DNM1L DNMT1 DNMT3A DPAGT1 DPF2 DPYD DPYSL5 DYNC1I2 DYRK1A EBP ECM1 EEF1A2 EFHC1 EHMT1 EIF2B1 EIF2S3 EIF4G1 ELP1 ELP2 EMP2 ENPP1 ENTPD1 EP300 EPCAM EPHA4 EPM2A ERAP1 ERBB4 ESS2 EXOC8 EXOSC8 FAN1 FAS FAT4 FBP1 FBP2 FBXL3 FBXW11 FDFT1 FGF14 FGF8 FGFR1 FIG4 FLII FMO3 FMR1 FOCAD FOXG1 FOXH1 FOXP1 FOXRED1 FRMPD4 FRRS1L FTL FTSJ1 FUS GABBR2 GABRA1 GABRB3 GABRD GABRG2 GALC GAMT GAPVD1 GAS1 GATAD2B GBA1 GCH1 GDAP2 GFAP GIGYF2 GJA5 GJA8 GJB2 GLDC GLE1 GLI2 GLRX5 GLS GLT8D1 GM2A GNA11 GNAO1 GNAS GNB1 GNB2 GNS GRIA1 GRIA2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRM7 GRN GUCY2D GYS2 H4C5 HBB HDAC4 HDAC8 HDC HECTD4 HECW2 HEPHL1 HERC2 HEXA HFE HIBCH HIKESHI HIVEP2 HLA-B HLA-DQB1 HLA-DRB1 HLCS HMGCL HNRNPA1 HNRNPH2 HPRT1 HSD17B10 HSPG2 HTR2A HTRA1 HTRA2 HTT IBA57 IFIH1 IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL23R IMPA1 INF2 INPP5E IQSEC1 IQSEC2 ITPA JARID2 JPH3 JRK KANSL1 KARS1 KAT5 KCNA1 KCNAB2 KCNQ3 KCNT1 KDM3B KDM4B KDM5B KDM5C KIF11 KIF15 KIF5C KLRC4 KMT2A KMT2C KMT2E KMT5B KNL1 KPTN KRAS LARP7 LAS1L LEPR LINGO1 LINS1 LMAN2L LRRK2 LSM11 LUZP1 MAB21L1 MADD MAGEL2 MAGI2 MAN1B1 MANBA MAOA MAPK1 MAPK10 MAPK8IP3 MAPT MATR3 MBD5 MECP2 MED12 MED12L MED13L MED23 MED25 MEFV METTL5 MGAT2 MIR17HG MKRN3 MLH1 MLH3 MMP23B MOCS2 MSH2 MSH6 MT-ATP6 MTHFS MTPAP MYO1E MYT1L NAA10 NAA20 NACC1 NAGLU NAGS NALCN NAT8L NAXD NAXE NBEA NDE1 NDN NDP NDST1 NDUFA2 NDUFA6 NDUFAF4 NDUFS1 NEFH NEK1 NEUROD2 NEXMIF NF2 NFASC NFIB NFIX NHLRC1 NHLRC2 NIPA1 NIPA2 NIPBL NKAP NMNAT1 NODAL NONO NOTCH3 NPAP1 NPHS1 NPHS2 NR3C1 NRCAM NSD1 NSD2 NSDHL NTNG2 NTRK1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCA2 OCRL ODC1 OPHN1 OPTN OSTM1 OTC PACS1 PAH PAK3 PANK2 PARK7 PAX2 PCBD1 PCDH19 PDCD1 PDCD6IP PDE11A PDE2A PDGFB PDPN PERCC1 PFN1 PGK1 PGM2L1 PHGDH PHIP PIDD1 PIGF PIGH PIGL PIGP PIGQ PIGY PIK3CA PINK1 PLA2G6 PLCE1 PLCH1 PLP1 PLPBP PMS1 PMS2 PNKP PODXL POGZ POLG PON1 PON2 PON3 POU4F1 PPARGC1A PPP2CA PPP2R5D PPT1 PRDM16 PRF1 PRKACA PRKAR1A PRKAR1B PRKCZ PRKN PRNP PRODH PRPH PRRT2 PSAP PSEN1 PSMB1 PSMD12 PTCH1 PTCHD1 PTH PTPRO PTS PUF60 PUS3 PUS7 PWAR1 PWRN1 PYCR2 PYGL QDPR RAB11B RAI1 RBBP8 RBL2 RERE RFX7 RHOBTB2 RLIM RNASEH2A RNASEH2B RNASEH2C RNF125 RNF13 RNF168 RNU7-1 RORB RPE65 RPL10 RPS20 RPS6KA3 RTTN RUSC2 SAMHD1 SARDH SARS1 SASS6 SATB2 SCN1A SCN1B SCN2A SDHA SDHAF1 SDHB SDHD SEMA4A SEPSECS SETBP1 SETD1A SETD2 SH2B1 SHANK3 SHH SHMT2 SHQ1 SIK1 SIM1 SIN3A SIX3 SKI SLC16A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A13 SLC25A19 SLC25A20 SLC25A22 SLC2A1 SLC2A3 SLC32A1 SLC39A14 SLC39A4 SLC46A1 SLC52A2 SLC6A1 SLC6A17 SLC6A19 SLC6A3 SLC6A4 SLC6A8 SLC9A6 SLITRK1 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG8 SMO SMPD1 SNCA SNORD115-1 SNORD116-1 SNORD118 SNRPN SOD1 SOX11 SOX4 SOX5 SPART SPAST SPATA5 SPEN SPG11 SPG21 SPOP SPR SPTBN1 SQSTM1 SRCAP SRPX2 ST3GAL3 ST3GAL5 STAG2 STAT4 STEEP1 STIL STT3A STUB1 STX16 SUCLA2 SUCLG1 SUFU SUPT16H SVBP SYN1 SYNGAP1 SYNJ1 SYT1 TAF15 TAOK1 TARDBP TASP1 TBC1D23 TBC1D8B TBK1 TBP TBX1 TCF20 TCF4 TCN2 TDGF1 TDO2 TERT TFE3 TGFBR2 TGIF1 TH THOC2 TIMM50 TK2 TKT TLR4 TMCO1 TMEM106B TMEM147 TMEM222 TMEM231 TMEM237 TMEM240 TMEM67 TNIK TP53 TRAF7 TRANK1 TRAPPC10 TREM2 TREX1 TRIM8 TRIO TRIP12 TRMT5 TRMU TRPC6 TSC1 TSC2 TSEN15 TSFM TSPOAP1 TTC19 TTC5 TTI2 TUBB3 TUBG1 TULP1 TWNK TYROBP UBA5 UBAC2 UBE2A UBE3A UBE3C UBE4A UBE4B UBQLN2 UBTF UCHL1 UFC1 UNC13A UNC80 UQCC2 UROC1 USP48 USP7 USP8 USP9X VAMP2 VAPB VCP VDR VPS13A VPS13C VPS16 VPS35 VPS50 VPS53 WAC WARS2 WASF1 WASHC4 WDR26 WDR45 WDR62 WT1 YIF1B ZBTB20 ZEB2 ZFYVE26 ZIC2 ZMIZ1 ZMYND11 ZNRF3 ZSWIM6 HP_ABNORMAL_ENCHONDRAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION ABCC6 AGPS ALPL ARSL B3GALT6 BGN BMPER BMPR1B CANT1 CBFB CD96 CHST3 CLCN5 COL10A1 COL11A2 COL2A1 COL9A3 COMP CPLX1 CSPP1 CTBP1 CYP19A1 CYP27B1 CYP2R1 DDR2 DDRGK1 DHCR7 DLK1 DNAJC21 DUOX2 DUOXA2 DYM DYNC2H1 DYNC2I1 DYNC2I2 EBP EIF2AK3 ENPP1 ESR1 EXOC6B EXTL3 FGFR2 FGFRL1 FIG4 FLNA FLNB GDF5 GGCX GJB2 GJB6 GNPAT GPC3 GPC4 GPX4 GSC GUSB HESX1 HOXA13 HSPG2 IARS2 IFT80 IHH INPPL1 IYD KCNH1 KIAA0586 KIF22 KIF7 LBR LEMD3 LETM1 LFNG LHX3 LHX4 LONP1 MATN3 MBTPS1 MEG3 MGP MIR140 NANS NEU1 NFIX NKX3-2 NSD2 NSDHL ORC1 ORC6 PAM16 PDE4D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PIGV PISD POU1F1 PRKAR1A PROP1 PTCH1 PTH1R RMRP RNU4ATAC RSPO2 RTL1 RUNX2 SBDS SETD2 SIK3 SLC10A7 SLC26A2 SLC34A2 SLC34A3 SLC35B2 SLC35D1 SLC5A5 SNRPB SOX9 SRP54 TG THRB TONSL TPO TRAPPC2 TRIP11 TRPV4 TSHB TSHR UFSP2 VAC14 VDR VPS35L WDR35 WNT3 XYLT1 HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY ABCC6 ACTN2 ALPK3 BAZ1B BCL7B BRAF BUD23 C4A CCR1 CLEC7A CLIP2 CSRP3 DNAJC30 EIF4H ELN ENPP1 ERAP1 FAS FKBP6 GBA1 GJA5 GLA GTF2I GTF2IRD1 GTF2IRD2 HLA-B IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R KLRC4 LDB3 LIMK1 MCM10 MEFV METTL27 MLX MLXIPL MYH7 MYL3 NCF1 PDGFRA PRKAR1A PTPN11 RAF1 RFC2 SLC22A5 SP110 STAT4 STX1A TAFAZZIN TBL2 TLR4 TMEM270 TRAF3IP2 UBAC2 VCL VPS37D HP_ABNORMAL_ENDOCRINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCRINE_MORPHOLOGY ABCC6 ABCD1 ADA ADH5 AIRE APC ARMC5 ATP6V1B2 ATRX BCAP31 BMP4 BRAF CACNA1D CACNA1S CCDC22 CCND1 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CHEK2 CILK1 CLCN2 CTNNB1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 DLST DNMT3A DPYSL5 ENPP1 EPAS1 FH GK GLI3 GNAS GPR161 HESX1 HSD3B2 HYLS1 IDH1 IDH2 IGF2 KCNE3 KCNJ5 KCNQ1 KCNQ1OT1 KIF1B LHX4 LIPA LMNA LTBP4 MAX MDH2 MDM2 MEN1 MKS1 MTHFR NF1 NKX2-6 NR0B1 NR3C1 NSDHL NUAK2 PDE11A PDE8B PEX1 PLXND1 POLE POMC POR PRKACA PRKAR1A PROKR2 PTEN RET ROBO1 SAMD9 SCN4A SDHA SDHAF2 SDHB SDHC SDHD SIX3 SLC25A11 STAR TBC1D24 TBC1D7 TBX19 TERT TMEM127 TNXB TP53 USP48 USP8 VANGL2 VHL VPS35L WASHC5 WDR11 WNT3 WNT4 YY1 ZMPSTE24 ZNRF3 HP_ABNORMAL_ENDOMETRIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOMETRIUM_MORPHOLOGY AKT1 BMPR1A CDH1 EPCAM GREM1 KLLN MLH1 MLH3 MSH2 MSH3 MSH6 NTHL1 PIK3CA PMS2 POLD1 POLE PTEN SDHB SDHC SDHD SEC23B SLC6A17 THOC6 USF3 HP_ABNORMAL_ENERGY_EXPENDITURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENERGY_EXPENDITURE ADRB3 AGRP CARTPT ENPP1 GHRL NGLY1 NR0B2 POMC PPARG SDC3 SIM1 UCP3 HP_ABNORMAL_ENZYME_CONCENTRATION_OR_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENZYME_CONCENTRATION_OR_ACTIVITY AASS ABCB11 ABCB4 ABCC6 ABCD1 ABCD3 ABCD4 ABCG8 ABHD5 ABL1 ACAD9 ACADM ACADVL ACOX1 ACOX2 ACSF3 ACSL5 ACVR1 ADA ADA2 ADAR ADK AGL AGPAT2 AHCY AIFM1 AKR1D1 ALAD ALAS2 ALDH2 ALDH4A1 ALDH5A1 ALDOA ALDOB ALG11 ALG12 ALG2 ALG3 ALG6 ALG8 ALMS1 ALPL AMACR AMPD1 ANO10 AP1B1 AP1S3 APOB APOE APRT ARSA ARSB ARSL ASAH1 ASL ASPA ASXL1 ATM ATP6AP1 ATP6AP2 ATP7B ATP8B1 ATRX B3GALNT2 B4GALT1 B4GAT1 BAAT BCAP31 BCAT2 BCHE BCR BCS1L BGN BICRA BMP2 BRCA1 BRCA2 BSCL2 BTD C18orf32 C1QBP CA2 CALR CASR CAT CAV3 CAVIN1 CBL CBLIF CBS CC2D2A CCDC115 CCDC47 CD19 CD46 CD81 CDAN1 CDKN2A CEACAM3 CEACAM6 CEBPE CEP164 CFAP418 CFH CFI CFTR CHEK2 CLCA4 CLCN7 CLPB CNOT1 COG2 COG4 COG5 COG6 COG7 COG8 COL4A1 COLQ CORIN COX16 COX5A CP CPA1 CPT1A CPT2 CR2 CRPPA CSF3R CSPP1 CTNS CTRC CTSA CYBA CYBB CYC1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7B1 DAG1 DAXX DCDC2 DCTN4 DDOST DEF6 DGUOK DHDDS DHFR DLAT DLD DMD DMGDH DMP1 DNAJC19 DNAJC21 DOCK2 DOLK DPAGT1 DPM1 DPM2 DPM3 DPYD DPYS DYM DZIP1L EARS2 EDNRA EFL1 EIF2AK3 ELMO2 ENO3 ENPP1 ERCC4 ERCC6 ERCC8 ESR1 F5 FADD FAH FAM20C FAN1 FARSA FARSB FBP1 FBXL4 FCSK FGF23 FH FHL1 FKBP10 FKRP FKTN FLI1 FLT1 FOCAD FOXP3 FTCD FUCA1 FXN G6PC1 GAA GALC GALE GALK1 GALM GALT GATA1 GATA2 GATM GBA1 GCDH GCLC GDF2 GFM2 GGCX GGT1 GIMAP5 GLB1 GLRX5 GLYCTK GNE GNMT GNPTAB GNPTG GPAA1 GPD1 GPHN GPI GPR35 GSS GSTM3 GUSB GYS2 HACD1 HADH HADHA HADHB HAGH HAMP HBB HEATR3 HELLPAR HEXB HFE HJV HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMGCL HMGCS2 HMOX1 HNF1B HNF4A HNRNPA1 HNRNPA2B1 HPD HSD17B10 HSD17B4 HSD3B7 HSPG2 IARS1 ICOS IDS IER3IP1 IFIH1 IFT172 IKZF1 IL12A IL12RB1 IL18BP IL36RN INPP5E INPP5K IRAK1 IRF2BP2 IRF5 JAG1 JAK2 KCNN4 KHK KIAA0586 KIF12 KIF23 KIT KLF1 KRAS KY LAMB2 LARGE1 LARS1 LBR LCAT LCT LDHA LDHB LHX1 LIG3 LIPA LIPT1 LMBRD1 LPIN1 LRPPRC LRRK1 LSM11 LYRM4 LYST MAN2B1 MANBA MARS1 MCCC2 MCM6 MED12 MGAT2 MICOS13 MICU1 MIF MLIP MMAA MMAB MMACHC MMADHC MMEL1 MOCS1 MOCS2 MOGS MPDU1 MPI MPL MPV17 MRPL3 MRPL44 MRPS16 MRPS2 MRPS28 MS4A1 MST1 MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTHFD1 MTHFR MTM1 MTR MTRR MTTP MTX2 MVK MYC MYH9 MYO5B NADK2 NBAS NCF1 NCF2 NFKB1 NFKB2 NFS1 NGLY1 NOS3 NPC1 NPC2 NPR2 NPR3 NR1H4 NSMCE2 NSUN2 OBSCN OCLN OCRL OFD1 OGDH OPLAH OTC OTUD5 PAH PALB2 PALLD PCCA PCCB PCK1 PEPD PEX13 PEX14 PEX16 PEX19 PEX2 PEX7 PFKM PGAP2 PGAP3 PGM1 PHEX PHGDH PHKA2 PHKB PHKG2 PHYH PIEZO1 PIGA PIGB PIGC PIGF PIGG PIGH PIGK PIGL PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CG PITRM1 PKD2 PKHD1 PKLR PLA2G6 PLA2G7 PLEC PLEKHM1 PLOD1 PMM2 PNPLA2 POLD1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 POU2AF1 PPOX PRDX1 PRF1 PRIM1 PRKCD PRKCSH PRPS1 PRSS1 PRSS2 PSAP PSMB4 PSMB8 PSMB9 PTH1R PYGL RABL3 RACGAP1 RAG1 RAG2 RB1 RBCK1 RHAG RHCE RHD RINT1 RNASEH2A RNASEH2B RNASEH2C RNF220 RNU7-1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRM2B RUNX1 RXYLT1 SAMHD1 SAR1B SAT1 SBDS SC5D SCO1 SDHD SEC23B SECISBP2 SEMA4D SEMA7A SERPINA1 SGMS2 SH2B1 SH3BP2 SI SIK3 SIL1 SLC11A1 SLC19A1 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC25A4 SLC26A9 SLC2A1 SLC2A2 SLC30A10 SLC34A1 SLC34A3 SLC35A2 SLC37A4 SLC39A4 SLC4A1 SLC4A2 SLC51A SLC51B SLC6A14 SLC7A7 SLC9A3 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SOST SP110 SPIB SPINK1 SPP1 SPTBN1 SQSTM1 SRD5A3 SRP54 SRSF2 STAT2 STAT4 STEAP3 STIM1 STOX1 STX11 STX1A STXBP2 SUCLG1 SUGCT SUOX TANGO2 TCF4 TCIRG1 TET2 TFAM TFR2 TGFB1 TKFC TMEM165 TMEM199 TMEM67 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFSF12 TNFSF15 TNPO3 TP53 TRAPPC11 TREH TREX1 TRMT10C TRMU TRPV6 TSR2 TTC26 TULP3 TWNK TYMP UBR1 UGT1A1 UMPS UNC13D UQCRB UQCRC2 UROD USB1 USP18 USP53 VCP VDR VIPAS39 VPS13A VPS33B VPS50 WARS2 WDR35 WRN XDH XK YARS2 ZNF687 ZNFX1 HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY ADA ASXL1 ATRX BCL11B BRAF BTNL2 CAPN3 CARD10 CARD11 CARD9 CASP10 CD247 CD3D CD3E CDH23 CDSN CHD7 CLPB DCLRE1C DOCK8 ELANE EPX EXTL3 FAS FASLG FOXP3 GFI1 GPR35 HLA-DRB1 IKBKG IL2RG IL6ST IL7R IPO8 IRF8 JAK1 KIT LIG4 MST1 NLRP1 NLRP3 NR3C1 PDGFRA PDGFRB PGM3 PIK3CG PRKCD RAG1 RAG2 RASGRP1 RBM8A RMRP RNU4ATAC SEMA4D SLC27A4 SLC46A1 SPINK5 SREBF1 SRP19 SRP54 SRSF2 STAT3 TBX21 TCF4 TCIRG1 TET2 TP53 TRAC USP48 USP8 WAS WIPF1 ZAP70 ZNF341 HP_ABNORMAL_EPIDERMAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDERMAL_MORPHOLOGY AAGAB ABCC6 ADAM17 AKT1 ALOX12B ALOXE3 ATP2A2 ATP2C1 CARD14 CARMIL2 CASP14 CAST CDSN CERS3 CHST8 CIB1 CLDN1 COL14A1 CSTA CYP26C1 CYP4F22 DCAF17 DSC3 DSG1 DSP EBP ECM1 EGFR ELOVL1 ELOVL4 ENPP1 EXPH5 FLG FLG2 GJA1 GJB2 GJB3 GJB6 GNB2 GRHL2 HLA-B IKZF1 IL1RN IL2RA IL36RN IL7R JUP KDSR KIF11 KIT KRT1 KRT10 KRT13 KRT16 KRT2 KRT6C KRT74 KRT9 LDHA LIPN LMNA LORICRIN LRBA LRP1 MBTPS2 MPDU1 NIPAL4 NLRP1 NSDHL OSMR PERP PKP1 POGLUT1 PPP2R3C RASA1 RECQL RIGI RNF168 SAMHD1 SASH1 SERPINB7 SERPINB8 SLC27A4 SLURP1 SMARCAD1 SULT2B1 TGM1 TGM5 WNT10A XYLT1 XYLT2 ZMPSTE24 ZNF750 HP_ABNORMAL_EPIDIDYMIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDIDYMIS_MORPHOLOGY BTK CCND1 CLDN2 CREBBP DHH EP300 HNF1B IGHG2 IGKC PSMB8 SRCAP UNG VHL HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY ASAH1 C2CD3 CILK1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EIF4A3 FGF10 FGFR2 FGFR3 FOXE1 FREM2 GLI3 IFT80 KRT14 KRT5 NEK1 PRRX1 SERPING1 SETBP1 SF3B4 WDR35 HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION AGPS ARSL B3GALT6 BMPR1B CLCN5 COL2A1 COL9A3 COMP CSPP1 CYP19A1 CYP27B1 CYP2R1 DDR2 DDRGK1 DHCR7 DLK1 DUOX2 DUOXA2 DYM EBP ESR1 FGFR2 FLNB GDF5 GGCX GNPAT GPX4 GUSB HESX1 IARS2 IYD KCNH1 KIAA0586 KIF22 KIF7 LBR LHX3 LHX4 MATN3 MEG3 MGP MIR140 NEU1 NSDHL PAM16 PDE4D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PISD POU1F1 PRKAR1A PROP1 PTH1R RNU4ATAC RTL1 SLC34A3 SLC5A5 SNRPB SOX9 TG THRB TONSL TPO TRAPPC2 TRPV4 TSHB TSHR VDR VPS35L HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY ACAN ADAMTS2 ADAMTSL2 AGPS AIFM1 ARSB ARSL ATP7A ATR ATRIP B3GALT6 BGN BMPR1B BPNT2 BRF1 CANT1 CCN6 CDC42BPB CDC45 CDC6 CDKN1C CDT1 CENPE CENPJ CEP120 CEP152 CEP164 CEP290 CHST3 CKAP2L CLCN5 CLCN7 COG1 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLX1 CREBBP CSPP1 CTBP1 CYP19A1 CYP27B1 CYP2R1 DDR2 DDRGK1 DHCR7 DLK1 DNA2 DNAJC21 DPYD DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EFL1 EIF2AK3 EP300 ERCC6 ERCC8 ESR1 EVC EVC2 EXT1 EXTL3 FBN1 FGF9 FGFR2 FGFR3 FGFRL1 FLNA FLNB FN1 FZD2 GALNS GDF5 GEMIN4 GGCX GLB1 GMNN GNPAT GNPTG GNS GORAB GPX4 GUSB HESX1 HOXA13 HPGD HS2ST1 HSPA9 HSPG2 IARS2 IDUA IFIH1 IFT122 IFT140 IFT172 IFT52 IFT80 IHH INPP5K INPPL1 INVS IQCB1 IYD KCNH1 KIAA0586 KIAA0753 KIF15 KIF1A KIF22 KIF7 KNSTRN LBR LETM1 LHX3 LHX4 LMBR1 LONP1 LTBP3 MAFB MAP3K7 MATN3 MEG3 MGP MIA3 MIR140 MMP13 MMP9 MRPS28 NANS NEK1 NEK9 NEU1 NKX3-2 NMNAT1 NOG NPHP1 NPHP3 NPHP4 NPR2 NPR3 NSD2 NSDHL NSMCE2 NUP85 OCRL OFD1 ORC1 ORC4 ORC6 PAM16 PCNT PCYT1A PDE3A PDE4D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHEX PHYH PIGL PIK3C2A PIK3CD PIK3R1 PISD PLK4 PLOD3 POC1A POR PORCN POU1F1 PRDM5 PRKAR1A PROP1 PTH1R PTPN11 PYCR1 RAB23 RAB33B RAB3GAP2 RAD21 RBBP8 RET RETREG1 RINT1 RMRP RNU4ATAC RPL13 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL1 SBDS SCN9A SDCCAG8 SHOX SIK3 SIL1 SKIC3 SLC10A7 SLC26A2 SLC2A10 SLC34A3 SLC35B2 SLC39A13 SLC5A5 SLCO2A1 SMAD4 SMARCA2 SMARCAL1 SNRPB SNX10 SOX9 SRCAP SRP54 TBC1D2B TBX4 TCIRG1 TG TGDS THRB TINF2 TMEM165 TMEM67 TNFSF11 TONSL TPO TRAF3IP1 TRAIP TRAPPC2 TREM2 TREX1 TRIP11 TRPS1 TRPV4 TSHB TSHR TTC21B TYROBP UFSP2 UNC45A VDR VPS35L WDR19 WNK1 WNT5A XYLT1 ZMIZ1 ZNF469 HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND ARSL ATR BGN BMPR1B COG4 COL2A1 COMP DYM EIF2AK3 ERCC6 ERCC8 EVC EVC2 EXT1 FGFR3 FLNA GDF5 GPX4 IFT140 IFT172 IFT52 IHH KCNH1 KIF15 MGP MIA3 MRPS28 NEK1 NPR2 NPR3 PRKAR1A RAB23 RAD21 RMRP RUNX2 SRCAP TONSL TRAPPC2 TRIP11 TRPS1 TRPV4 HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL ADA ADA2 ALAD GALT GATA1 HEATR3 KHK PHKA2 PHKG2 PIGA PKLR PRPS1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2 VPS13A HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY AARS1 AASS ABCA1 ABCB6 ABCB7 ABCC8 ABCD3 ABCD4 ABCG8 ACAD8 ACD ACP5 ACSL4 ACTN4 ACVR1 ACVRL1 ADA ADA2 ADAMTS13 ADAR ADH5 AGGF1 AGXT AK1 AK2 ALAD ALAS2 ALDOA ALG2 ALG8 ALPL ALX4 AMMECR1 AMN ANAPC1 ANK1 ANKRD11 ANKRD55 APC APOB APPL1 ASAH1 ASXL1 ATP11C ATP5F1A ATP6AP1 ATP7B ATPAF2 ATRX BANK1 BCL10 BCL11A BCOR BIRC3 BLK BLM BMPR1A BPGM BRCA1 BRCA2 BRIP1 BSCL2 BTK BTNL2 C1GALT1C1 C1QB C2orf69 C3 C4A C4B CA2 CAD CALR CARD10 CARS1 CASK CASP10 CASR CAT CBL CBLIF CCND1 CD19 CD247 CD3G CD40LG CD46 CD55 CD59 CD81 CDAN1 CDC40 CDCA7 CDIN1 CEL CELA2A CFB CFH CFHR1 CFHR3 CFI CHD7 CIITA CISD2 CLCN7 CLCNKB CLPB CLPX COA8 COG1 COL17A1 COL2A1 COL3A1 COL4A1 COL7A1 COQ2 COX10 COX4I2 CP CPOX CR2 CRIPT CTC1 CTLA4 CUBN CYB561 CYB5A CYB5R3 CYBC1 CYP4F22 DAXX DBH DCDC2 DCLRE1C DDX41 DEF6 DGKE DHFR DIAPH1 DKC1 DMXL2 DNAJC19 DNAJC21 DNAJC3 DNASE1 DNM1L DNMT3B DPAGT1 DPP9 DUT EDNRB EFL1 EGLN1 EIF2AK3 ELANE ELF4 ELMO2 ENG EPAS1 EPB41 EPB42 EPHB4 EPO EPOR ERBB3 ERCC2 ERCC3 ERCC4 ERCC6 ERCC6L2 ERCC8 ETS1 ETV6 EWSR1 EXT2 F2 F8 FADD FAH FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FARSA FARSB FAS FASLG FCGR2A FCGR2B FCGR3B FDX2 FECH FERMT1 FERMT3 FGF23 FH FIP1L1 FLI1 FMO3 FN1 FOCAD FOXP1 FOXP3 FTCD FTH1 G6PC3 G6PD GALNT2 GALT GATA1 GATA2 GATB GATC GBA1 GCK GCLC GDF2 GFI1B GLA GLRX5 GNA14 GNB2 GP1BA GPI GPX1 GREM1 GSR GSS GTF2E2 GTF2H5 GYPC HAMP HAVCR2 HBA1 HBA2 HBB HBD HBG1 HBG2 HCK HEATR3 HELLPAR HELLS HK1 HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGCL HMOX1 HNF1A HNF4A HPGD HPRT1 HSCB HSPA9 ICOS IDH1 IDH2 IFIH1 IFNG IFNGR1 IFT140 IGHG1 IKZF1 IL10 IL12B IL2RA IL2RB IL2RG IL37 IL6ST IL7R INS IRAK1 IREB2 IRF2BP2 IRF4 IRF5 IRF8 IRX5 ISCU ITGA2B ITGAM ITGB4 ITK JAK2 JAZF1 KARS1 KCNE1 KCNE5 KCNJ11 KCNN4 KCNQ1 KDM6A KHK KIAA0319L KIF15 KIF1B KIF23 KIT KLF1 KLF11 KMT2D KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LARS1 LARS2 LAT LCAT LCK LCP2 LIG1 LIG3 LIG4 LIPA LMBRD1 LPIN2 LRBA LYRM7 LYST MAD2L2 MADD MALT1 MARS1 MDM4 MECOM MECP2 MEFV MLX MMAA MMAB MMACHC MMADHC MMP1 MMUT MPIG6B MPL MPLKIP MS4A1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTHFD1 MTR MTRR MTTP MTX2 MUC1 MVK MYD88 MYSM1 NAA10 NABP1 NAF1 NARS2 NBN NCAPG2 NDUFB7 NEUROD1 NFKB1 NFKB2 NHEJ1 NHLRC2 NHP2 NLRC4 NLRP1 NLRP3 NOD2 NOP10 NPHP1 NPHP4 NPM1 NRAS NSMCE2 NSUN2 NT5C3A NTRK1 NUMA1 OCRL OPA1 ORAI1 OSTM1 PACS2 PALB2 PANK2 PARN PAX2 PAX4 PBX1 PCCA PCCB PCNT PDCD1 PDGFRA PDX1 PEPD PFKM PGK1 PGM3 PHF21A PHGDH PHKA2 PHKB PHKG2 PI4KA PIEZO1 PIGA PIGT PIK3CG PKLR PLA2G4A PLEC PLEKHM1 PML PNP PNPO POLG POLRMT PPOX PRDX1 PRF1 PRIM1 PRKACG PRKAR1A PRKCD PROS1 PRPS1 PSAP PSMB4 PSMB8 PSMB9 PSMC1 PSMG2 PSTPIP1 PTEN PTF1A PTH1R PTPN2 PTPN22 PUS1 PXK QRSL1 RAC2 RACGAP1 RAD51 RAD51C RAG1 RAG2 RARA RASGRP1 RBCK1 RBM8A RECQL RECQL4 REN RFWD3 RFX5 RFXANK RFXAP RHAG RHCE RHD RIPK1 RMRP RNF113A RNU7-1 RPGRIP1L RPL11 RPL13 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RRM2B RTEL1 RUNX1 SAMD9 SAMD9L SAR1B SARS2 SASH3 SAT1 SBDS SC5D SCARB2 SDHA SDHB SDHC SEC23B SEC61A1 SERPINA6 SF3B1 SFXN4 SH2B3 SHPK SLC11A2 SLC12A3 SLC19A1 SLC19A2 SLC25A10 SLC25A13 SLC25A21 SLC25A38 SLC29A3 SLC2A1 SLC30A10 SLC35C1 SLC37A4 SLC40A1 SLC46A1 SLC4A1 SLC4A2 SLC5A2 SLC7A7 SLCO2A1 SLF2 SLX4 SMAD4 SMARCAL1 SMARCD2 SMC5 SMPD1 SNX10 SOCS1 SP110 SPP1 SPTA1 SPTB SRD5A3 SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STEAP3 STIM1 STING1 STK11 STK4 STX11 STXBP2 SUCLA2 SURF1 SYK TAFAZZIN TALDO1 TARS1 TBCE TBL1XR1 TBX1 TBXAS1 TCF3 TCIRG1 TCN2 TEK TERC TERT TET2 TF TFR2 TFRC TGFB1 THBD THPO THRA TINF2 TKFC TLR7 TLR8 TMEM67 TMPRSS6 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF4 TNFSF11 TNFSF12 TNFSF4 TNIP1 TOM1 TOR1A TP53 TPI1 TPP2 TRAC TREX1 TRMT5 TRNT1 TSR2 TTC7A TTR TYMP TYMS UBA1 UBE2L3 UBE2T UBR1 UMPS UNC13D UNC45A UQCRFS1 UROD UROS USB1 VHL VPS13A VPS33A VPS45 WAS WFS1 WIPF1 WRAP53 WRN WT1 XK XRCC2 XRCC4 YARS1 YARS2 YIPF5 ZAP70 ZBTB16 ZBTB20 ZBTB24 ZBTB7A ZNF699 HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY ANK1 EPB41 EPB42 GYPC HBB KCNN4 PIEZO1 PKLR RHAG RHCE RHD SLC4A1 SLC4A4 SPTA1 SPTB HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE ADA2 ANKRD55 AP1S3 ARPC1B C1QB CARD10 CASP10 CCN6 CD244 CD247 CIITA COPA CTLA4 ELF4 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNGR1 IL10 IL1R1 IL1RN IL2RA IL2RB IL36RN IL37 IL6 IRAK1 ITK LACC1 LBR LPIN2 MEFV MIF MTTP MVK MYD88 NCF4 NFKBIL1 NLRP12 NLRP3 NOD2 P4HA2 POMP PRKCD PRTN3 PSMB4 PSMB8 PSMB9 PTPN2 PTPN22 SAT1 SLC22A4 SLC29A3 SPP1 STAT4 STING1 TGFB1 TNFRSF1A TREX1 UBA1 ZNFX1 HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY AAGAB ACD ACVRL1 ADA2 ADAMTS2 ADAMTSL2 ALMS1 APC AR ARHGAP31 ARNT2 ASCC1 ATAD1 ATP7A ATP7B BAZ1B BCL7B BLM BRAF BRCA1 BRCA2 BRIP1 BUD23 CALR CARD8 CARMIL2 CBS CDKN1B CHD7 CLIP2 COG6 COL14A1 COL4A5 COL4A6 COL7A1 CTC1 CTHRC1 CYBA CYBB CYBC1 DCC DCDC2 DCLRE1B DGUOK DKC1 DLEC1 DLL4 DNAJC30 DOCK6 DOCK8 DSG1 DYNC2H1 DYNC2I1 DYNC2I2 DZIP1L EFTUD2 EIF4H ELF4 ELN ENG EOGT ERCC4 F5 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FBN2 FERMT1 FGF20 FGFR1 FGFR2 FH FKBP6 FOXF1 GBA1 GBE1 GDF2 GFRA1 GIMAP5 GLRA1 GLRB GMPPA GNB2 GPHN GRB10 GREB1L GRHL2 GTF2I GTF2IRD1 GTF2IRD2 HESX1 HLA-B HOXD13 IARS1 IFT80 IKZF1 INTU ITGA6 ITGA8 ITGB4 JAK2 KIF12 KIF3B KIT KRT18 LAMA3 LAMB3 LAMC2 LIMK1 LIPA LMBRD1 LMX1B LZTS1 MAD2L2 MALT1 MAMLD1 MED12 MEN1 METTL27 MID1 MLXIPL MMP1 MSR1 MYCN MYH11 NCF1 NCF2 NCF4 NHP2 NOP10 NOTCH1 NOTCH3 NPM1 OTX2 PAH PAICS PALB2 PARN PDE11A PDGFRA PDGFRB PGM3 PHGDH PHKA2 PHKG2 PKHD1 PLA2G4A PLEC POLA1 POLR1B POLR1C POLR1D PRKAR1A PROKR2 PSPH RAD21 RAD51 RAD51C RBPJ REL RET RFC2 RFWD3 RHBDF2 RMRP RNF6 RPL11 RTEL1 SALL1 SAMD9 SDHA SDHB SDHC SEMA3E SIX6 SLC12A2 SLC2A10 SLC30A10 SLC6A5 SLX4 SMAD3 SMAD4 SMARCD1 SOX2 SOX3 STAT1 STK11 STN1 STX1A STXBP1 TBL2 TCF4 TCOF1 TERC TERT TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TINF2 TMEM270 TMEM67 TOM1 TRAPPC11 TTC26 TYMS UBA2 UBE2T USB1 VPS37D WBP11 WDR35 WNT7A WNT9B WRAP53 WWOX XRCC2 YY1 ZIC3 HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY AAAS AARS1 AASS ABCA3 ABCD1 ABCD4 ACADVL ACOX1 ACTA1 ACTB ACTG2 ACTL6B ADAMTS2 ADAMTSL2 ADAR ADAT3 ADCY6 ADD3 ADGRG1 ADH1C ADNP AFF3 AFF4 AFG3L2 AGO1 AGO2 AGR2 AGRN ALDH18A1 ALDH4A1 ALG12 ALG2 ALG9 ALMS1 ALS2 AMER1 AMPD2 ANKRD11 ANXA11 AOPEP AP3B1 AP3B2 APC2 APOE APP AR ARCN1 ARF1 ARFGEF2 ARHGAP29 ARHGEF38 ARID2 ARNT2 ARSL ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASNS ASPA ASXL1 ASXL3 ATAD1 ATG7 ATL1 ATL3 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATP7B ATP9A ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B4GALNT1 BAP1 BAZ1B BCL7B BICRA BLM BMP4 BRAF BRD4 BUD23 CACNA1A CACNA1B CACNA1C CACNA1G CACNA1I CACNA2D1 CAD CAMK2B CAMTA1 CARMIL2 CARS2 CASZ1 CAV1 CAVIN1 CCDC22 CCDC47 CCN2 CCR6 CDC6 CDC73 CDH1 CDK13 CDK19 CDKL5 CDKN1A CDKN1B CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CELF2 CENPT CEP85L CFTR CHAMP1 CHAT CHCHD10 CHD7 CHMP1A CHRNA1 CHRNA3 CHRND CHRNE CLCA4 CLCN1 CLCN4 CLIP2 CLN3 CLN8 CLP1 CLTC CNKSR2 CNTNAP1 COBLL1 COG7 COL13A1 COL1A1 COL2A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COLQ COMT COQ2 COQ4 CORO1A COX11 CPLX1 CPSF3 CREBBP CRLF1 CRYAB CSF1R CSPP1 CTBP1 CTCF CTHRC1 CTNNB1 CTNS CYFIP2 CYP27A1 CYP7B1 DAB1 DALRD3 DCTN1 DCTN4 DCX DDB1 DDC DDHD2 DDOST DEAF1 DES DGUOK DHCR7 DHDDS DISP1 DKK1 DLG1 DLL1 DLX4 DMPK DNAAF4 DNAJB6 DNAJC13 DNAJC30 DNM1 DNM1L DPH5 DPP9 DPYSL5 DSP DST DTYMK DYRK1A DYSF EBF3 ECM1 EDEM3 EDNRA EEF1A2 EHMT1 EIF4G1 EIF4H EIF5A ELN ELP1 EP300 EPG5 EPRS1 ERCC6 ERCC8 ERLIN2 ERMARD EXOSC5 EXOSC9 EXT1 EXT2 FA2H FAM13A FARS2 FARSB FBN1 FBXL4 FBXO28 FBXO7 FBXW7 FCSK FERMT1 FGF10 FGF12 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FLAD1 FLCN FLII FLNA FLNC FLVCR1 FMR1 FOXG1 FOXH1 FOXP2 FRG1 FTL FUS FXN FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GAS1 GBA1 GBA2 GCDH GCH1 GCLC GDAP2 GEMIN4 GFAP GFPT1 GIGYF2 GIPC1 GJB1 GLA GLB1 GLI2 GLRA1 GLRB GLUD2 GLYCTK GMNN GMPPA GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNS GON7 GOSR2 GP1BB GPHN GRB10 GRHL2 GRHL3 GRIA1 GRIN1 GRIN2D GRM1 GRM7 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 H3-3A H3-3B H4C5 HACD1 HCN1 HDAC8 HECTD4 HEPACAM HEXB HFE HGSNAT HIRA HIVEP2 HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMOX1 HNRNPH1 HNRNPH2 HNRNPK HOXB1 HPCA HPDL HPRT1 HRAS HSD17B10 HSPG2 HTRA1 HTRA2 HTT IARS2 IDH1 IDH2 IKZF1 IL6ST IL7R IPO8 IQSEC2 IRF2BPL IRF5 IRF6 ITCH ITGA7 IVNS1ABP JAG1 JMJD1C KAT6A KAT6B KATNB1 KBTBD13 KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNH1 KCNK9 KCNN4 KCNQ2 KCNQ3 KIAA0319L KIAA0586 KIF1A KIF5A KIT KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2C KMT2D KNSTRN KY LAMA2 LAMB2 LBR LETM1 LIFR LIG3 LIMK1 LMNA LMNB1 LMOD3 LMX1B LONP1 LRP12 LRP5 LRPPRC LRRK2 LTBP4 LUZP1 LYRM4 MACF1 MADD MAGEL2 MAN2C1 MAP1B MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPT MATR3 MB MBD5 MCEE MECP2 MECR MED12 MED12L MED17 MED25 MEGF10 MEIS2 MEN1 METTL27 MFF MGAT2 MGME1 MID1 MIF MINPP1 MLXIPL MMP1 MMP23B MPZ MRPS25 MRPS28 MRPS34 MSL3 MSR1 MSX1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TT MT-TV MT-TW MTHFS MTRFR MUC5B MUSK MYH11 MYH14 MYH2 MYH8 MYL2 MYMK MYO1H MYO9A MYORG MYOT MYPN NAA10 NACC1 NALCN NCAPG2 NCF1 NDE1 NDUFA13 NDUFA6 NDUFA9 NDUFAF2 NDUFS1 NDUFS3 NEB NECAP1 NECTIN1 NEDD4L NEFH NEFL NEK1 NEPRO NEU1 NEUROD2 NEXMIF NF1 NF2 NFIX NGLY1 NIPBL NODAL NONO NOP56 NOS1 NOTCH2NLC NOTCH3 NPC1 NPC2 NPHS1 NR4A2 NRCAM NRXN1 NSD1 NSD2 NSRP1 NTRK1 NTRK2 NUP214 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OCRL OPA1 OPTN ORC1 ORC4 ORC6 PABPN1 PACS1 PACS2 PAK1 PANK2 PARN PARS2 PAX7 PCGF2 PCNA PDE8B PDGFRA PDHA1 PDP1 PDPN PEX1 PEX16 PFN1 PGM3 PHGDH PHIP PHOX2B PI4KA PIEZO1 PIEZO2 PIGA PIGN PIGT PIK3CD PIK3R5 PLA2G6 PLAA PLCH1 PLEC PLIN4 PLP1 PLXND1 PMP22 PNKD POGZ POLG POLG2 POLR2A POLR3A POLR3B POR PORCN PPM1D PPP3CA PRDM13 PRDM16 PRDX3 PRKCG PRKCSH PRKCZ PRKRA PRMT7 PRNP PRPH PRPS1 PRUNE1 PSAP PSEN1 PSPH PTCH1 PTS PUF60 PUS3 PYCR1 PYGM PYROXD1 QDPR RAD21 RAI1 RARS1 RARS2 REEP1 RELN REPS1 RERE RET RETREG1 REV3L RFC2 RHBDF2 RIC1 RILPL1 RLIM RNASEH1 RNF125 RNF170 RNU4ATAC RPL10 RREB1 RRM2B RTEL1 SACS SALL1 SAMD9 SATB1 SATB2 SCARB2 SCN3A SCN4A SCN8A SCN9A SCUBE3 SDHA SDHB SDHC SDHD SEC23A SEC24C SEC31A SEC63 SELENON SEMA3E SEPSECS SERPINA1 SERPING1 SETBP1 SETD2 SETX SFTPA1 SFTPA2 SFTPC SH2B1 SHANK3 SHH SIAH1 SIGMAR1 SIK1 SIN3A SIX3 SKI SLC11A1 SLC12A2 SLC13A5 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A22 SLC25A24 SLC25A4 SLC26A9 SLC2A10 SLC2A3 SLC35A2 SLC37A4 SLC38A3 SLC44A1 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SLC6A14 SLC6A3 SLC6A5 SLC6A9 SLC9A3 SLC9A6 SMARCA2 SMC1A SMC3 SMC5 SMG9 SNAP25 SNCA SNCAIP SNRPB SOD1 SON SOX5 SPART SPATA5 SPEN SPG11 SPG21 SPG7 SPOP SPTAN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A3 SRPX2 SSR4 STAC3 STAG1 STAG2 STAT3 STIL STN1 STUB1 STX1A STXBP1 SUCLA2 SUCLG1 SUPT16H SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TAF1 TANGO2 TARDBP TBC1D23 TBC1D24 TBCD TBK1 TBL2 TBP TBX1 TBX4 TCEAL1 TCF4 TDGF1 TECPR2 TERC TERT TFAP2A TFG TGFB1 TGIF1 TGM6 TIMM22 TIMM8A TK2 TMEM270 TMEM94 TMTC3 TNNT1 TNPO3 TOP3A TOR1A TP63 TPM2 TPM3 TPP1 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TRIO TRIP4 TRMT10C TRPV6 TSEN15 TSEN2 TSEN34 TSEN54 TSPYL1 TTBK2 TTC19 TTC26 TUBB4A TUBB6 TWIST1 TWNK TYMP TYMS UBA5 UBB UBE3A UBE4B UBQLN2 UBTF UCHL1 UFC1 UFD1 UNC45B USP7 USP9X VAC14 VAMP1 VAPB VARS1 VCP VPS11 VPS13A VPS35 VPS35L VPS37D VRK1 WAC WARS2 WASHC5 WDR26 WFS1 WNK1 WWOX XRCC1 YARS2 YWHAG YY1 ZBTB18 ZBTB7A ZC4H2 ZEB2 ZFYVE26 ZIC2 ZMYM2 ZNF699 ZSWIM6 HP_ABNORMAL_EUSTACHIAN_TUBE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EUSTACHIAN_TUBE_MORPHOLOGY IRF6 MSX1 NECTIN1 TP63 WDR26 HP_ABNORMAL_EXTERNAL_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTERNAL_GENITALIA ABCA4 ABL1 ACTA1 ACTB ADA2 ADAR ADAT3 AFF4 AGBL5 AGPAT2 AHI1 AHR AIP AKR1C2 AKR1C4 AKT1 ALG12 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX4 AMH AMHR2 ANK1 ANKRD11 ANOS1 APC2 AR ARCN1 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARL6IP6 ARNT2 ARVCF ARX ATAD3A ATIC ATP6AP2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRX AXL B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BDNF BEST1 BICRA BLTP1 BMP15 BMP4 BMPR1A BNC1 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRIP1 BSCL2 BUB1 BUB1B BUB3 BUD23 C2CD3 CA4 CAMK2A CARS1 CASK CASZ1 CATIP CAV1 CAVIN1 CBX2 CC2D2A CCDC141 CCDC22 CCDC28B CCDC34 CCDC8 CCNQ CD96 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH11 CDH2 CDHR1 CDKL5 CDKN1B CDKN1C CDKN2A CDON CDT1 CENPT CEP112 CEP120 CEP152 CEP19 CEP290 CEP41 CEP57 CERKL CFAP418 CFTR CHD4 CHD7 CHEK2 CHRM3 CHRNA3 CHRNG CILK1 CKAP2L CLIP2 CLMP CLRN1 CNGA1 CNGB1 COG1 COG5 COL3A1 COL4A1 COLEC10 COLEC11 COMT COX7B CPE CPLX1 CRB1 CREBBP CRPPA CRX CSPP1 CT55 CTBP1 CTC1 CTCF CTDP1 CTU2 CUL4B CUL7 CUX1 CXCR4 CYB5A CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DCHS1 DCX DDB2 DDX3Y DDX6 DHCR24 DHCR7 DHDDS DHH DHODH DHX37 DHX38 DICER1 DIS3L2 DISP1 DKC1 DLK1 DLL1 DLL3 DMRT1 DMRT3 DMXL2 DNAH10 DNAJC19 DNAJC30 DNHD1 DPF2 DPM1 DPM2 DPP9 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 ECE1 ECEL1 EED EFNB1 EHMT1 EIF2S3 EIF4H ELN EP300 EPG5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 ESR2 EVC EVC2 EWSR1 EXT2 EYS EZH2 FAM111A FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBN1 FBXL4 FBXO43 FDFT1 FDXR FERMT1 FEZF1 FGD1 FGF17 FGF8 FGFR1 FGFR2 FGFRL1 FIG4 FKBP6 FKRP FKTN FLI1 FLNA FLRT3 FMR1 FOCAD FOS FOXA2 FOXC1 FOXF1 FOXH1 FRAS1 FREM2 FSCN2 FSHB FSHR FUZ FXR1 FZD2 GABRD GAD1 GAS1 GATA1 GATA4 GATAD2B GBA2 GH1 GHR GLI1 GLI2 GLI3 GLYCTK GMNN GMPPB GNA11 GNAO1 GNB2 GNRH1 GNRHR GP1BB GPC3 GPC4 GPR101 GPR161 GRB10 GRIA3 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H19 H4C11 H4C9 HBA1 HBA2 HCCS HDAC8 HEATR3 HEPACAM HERC1 HERC2 HES7 HESX1 HGSNAT HHAT HID1 HIRA HMGA2 HNF1B HNRNPH1 HNRNPR HOXA13 HOXD13 HS6ST1 HSD17B3 HSD3B2 HSPG2 HUWE1 HYLS1 HYMAI IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT81 IFT88 IGF2 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INSR INTU IRF6 ISL1 JMJD1C KANSL1 KAT5 KAT6B KATNIP KCNA1 KCNAB2 KCNH1 KCNJ6 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KDM1A KDM3B KDM5B KDM5C KDM6A KEAP1 KIAA0586 KIAA0753 KIAA1549 KIF7 KIFBP KISS1 KISS1R KIZ KLF1 KLHL10 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KMT2D KRAS KRT5 LAMA5 LARGE1 LEP LEPR LETM1 LFNG LHB LHCGR LHX1 LHX4 LIG4 LIMK1 LIPE LMNA LMNB2 LMOD3 LMX1B LRAT LRPPRC LSM11 LSS LUZP1 LZTFL1 MAB21L1 MAB21L2 MAD2L2 MADD MAGEL2 MAK MAMLD1 MAP2K1 MAP3K1 MAP3K7 MAPRE2 MBD5 MBTPS2 MC2R MCM8 MCTP2 MDM2 MECP2 MED12 MED12L MED25 MEG3 MEGF8 MEIOB MERTK MESP2 METTL23 METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MNX1 MOGS MOV10L1 MRAP MRPS22 MSH4 MSH5 MTM1 MTOR MYH3 MYMK MYMX MYRF NAA10 NANOS1 NCF1 NDN NDNF NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NECTIN1 NEK1 NEK2 NELFA NEUROD2 NEXMIF NHLH2 NHP2 NIPBL NKX2-1 NNT NODAL NOP10 NOTCH2 NPAP1 NPHP1 NPM1 NR0B1 NR2E3 NR2F2 NR3C1 NR5A1 NRL NSD1 NSD2 NSMF NSUN2 NUP107 NXN OBSL1 OCA2 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PAICS PALB2 PARN PAX6 PBX1 PCARE PCNT PDE11A PDE4D PDE6A PDE6B PDE6G PDHA2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF21A PHF6 PHF8 PHGDH PIEZO2 PIGA PIGG PIGN PIGP PIGQ PIK3CA PITX2 PLAG1 PLAGL1 PMM2 PNKP PNLDC1 PNPLA6 POC1A POFUT1 POGLUT1 POLA1 POLE POLR1B POLR1C POLR1D POLR3A POLR3H POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPARG PPP1R12A PPP2R3C PQBP1 PRCD PRDM13 PRDM16 PRKACA PRKACB PRKAR1A PRKCZ PRKDC PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRX1 PSENEN PSMC1 PSMC3IP PSMD12 PSPH PTCH1 PTDSS1 PTEN PTPN11 PTPRF PTRH2 PUF60 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RBBP8 RBMY1A1 RBP3 RDH12 REEP6 RERE RFC2 RFWD3 RFX7 RGR RHO RIPK4 RIPPLY2 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNF212 RNU12 RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL10L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPO1 RSPO2 RTEL1 RTL1 RTTN RXYLT1 RYR1 SAG SALL1 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCLT1 SCN1B SCN2A SCUBE3 SDCCAG8 SDHB SDHC SDHD SEC23B SEC24C SEMA3A SEMA3E SEMA4A SETBP1 SETD2 SETD5 SGPL1 SHH SHOC1 SIAH1 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SKIC3 SLC25A10 SLC25A22 SLC25A24 SLC29A3 SLC31A1 SLC32A1 SLC39A4 SLC7A14 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMS SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOX10 SOX11 SOX2 SOX3 SOX4 SOX9 SPAG17 SPATA7 SPECC1L SPEN SPIDR SPRED1 SPRY4 SPTBN1 SRA1 SRCAP SRD5A2 SRY SSR4 STAG1 STAG3 STAR STK11 STS STT3A STT3B STX1A STXBP1 SUCLG1 SUFU SUZ12 SYCE1 SYCP3 SYNGAP1 TAC3 TACR3 TAF4B TALDO1 TAPT1 TBC1D20 TBC1D24 TBCE TBL1XR1 TBL2 TBX1 TBX15 TBX22 TBX3 TBX4 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDRD9 TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TFAP2A TGIF1 THOC2 THOC6 TINF2 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM63A TMEM67 TMEM70 TMEM94 TNXB TOE1 TOGARAM1 TONSL TOPORS TP53 TP63 TRAIP TREX1 TRIM32 TRIM8 TRIP13 TRPM3 TRRAP TSPY1 TSPYL1 TSR2 TTC8 TUB TUBB TULP1 TWIST2 TXNDC15 TXNRD2 TYMS UBA1 UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UFD1 UPB1 USB1 USF3 USH2A USP26 USP7 USP9X USP9Y VAC14 VAMP7 VANGL1 VPS35L VPS37D WASHC5 WDPCP WDR11 WDR35 WNT3 WNT4 WNT5A WNT7A WRAP53 WT1 WWOX XPA XPC XRCC2 XRCC4 YWHAE ZEB2 ZFPM2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND15 ZNF408 ZNF513 ZNF699 ZPR1 ZSWIM7 HP_ABNORMAL_EXTERNAL_NOSE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTERNAL_NOSE_MORPHOLOGY AASS ABCA12 ABCA4 ABCA5 ABCC8 ABCC9 ACSL4 ACTB ACTG1 ACTG2 ACTL6B ADAMTS18 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADGRG6 ADNP ADSL AFF3 AFF4 AGA AGBL5 AGL AGO1 AHI1 AHR AIFM1 AIMP2 AKT1 ALDH18A1 ALDH1A2 ALDH6A1 ALG13 ALG3 ALG9 ALX1 ALX3 ALX4 AMMECR1 ANKRD11 ANKRD17 ANTXR1 AP2M1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSL ARVCF ARX ASH1L ASNS ASPH ASXL1 ASXL2 ASXL3 ATAD3A ATIC ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 B3GALT6 B3GLCT B9D1 B9D2 BANF1 BAP1 BBS1 BBS2 BCL11A BCOR BCR BEST1 BICRA BLTP1 BMP2 BMPER BPTF BRAF BRCA1 BRCC3 BRD4 BRF1 BUB1 BUB1B BUB3 C12orf57 C2CD3 CA4 CACNA1B CAMTA1 CANT1 CAPN15 CASK CASZ1 CAV1 CBL CBY1 CC2D2A CCDC22 CCDC47 CCDC8 CCNK CCNQ CD96 CDC42 CDC42BPB CDH11 CDHR1 CDK10 CDK13 CDK19 CDKL5 CDON CENPE CENPF CENPJ CENPT CEP104 CEP120 CEP152 CEP290 CEP41 CEP55 CEP57 CERKL CERT1 CFAP418 CHD2 CHD5 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CILK1 CIT CKAP2L CLCF1 CLCN3 CLIC2 CLP1 CLPB CLRN1 CNGA1 CNGB1 CNOT1 CNOT2 CNOT3 COG1 COG4 COG6 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL27A1 COL2A1 COL3A1 COLEC11 COMT CPLANE1 CPLX1 CPSF3 CPT2 CRB1 CREBBP CRIPT CRKL CRLF1 CRX CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTNNB1 CTSK CUL4B CUL7 CUX1 CWC27 DDB1 DDB2 DDR2 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHX37 DHX38 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLX4 DMXL2 DNA2 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DONSON DPF2 DPYD DVL1 DVL3 DYNC1I2 DYRK1A DZIP1L EBF3 EBP ECE1 ECEL1 EDA EDA2R EDAR EDARADD EDEM3 EDN3 EDNRB EFEMP2 EFNB1 EFTUD2 EHMT1 EIF2S3 EIF5A ELN EP300 EPG5 ERCC2 ERCC3 ERCC4 ERCC5 ERF ESCO2 ESS2 EXOC2 EXOSC1 EXOSC2 EXT1 EXT2 EXTL3 EYA1 EYS FAM149B1 FAM161A FAM20C FANCL FBN1 FBXL3 FBXL4 FBXO28 FBXO31 FGD1 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FLCN FLI1 FLII FLNA FLNB FMR1 FOCAD FOXA2 FOXC1 FOXG1 FOXH1 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 FSCN2 FTO FZD2 GABRD GAD1 GAS1 GATAD2B GBA1 GDF11 GFRA1 GH1 GHR GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLUL GMNN GNAI1 GNAO1 GNPAT GNPTAB GNS GP1BB GPAA1 GPC3 GPC4 GPC6 GREB1L GRIN1 GRIP1 GRM7 GUCA1B H3-3A H3-3B H4C3 H4C5 HDAC4 HDAC6 HDAC8 HECW2 HES7 HESX1 HGSNAT HIC1 HIRA HIVEP2 HK1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXB1 HPDL HRAS HS2ST1 HSPA9 HSPG2 HUWE1 HYLS1 IARS2 IDH3A IDH3B IDUA IER3IP1 IFIH1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT74 IFT88 IGF1 IGF1R IL11RA IL2RA IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR INTS1 IQSEC2 IRX5 ITCH ITGA8 JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDM3B KDM4B KDM5B KDM6A KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF15 KIF1A KIF7 KIFBP KIZ KLHL15 KLHL7 KMT2A KMT2B KMT2D KMT5B KNL1 KNSTRN KPTN KRAS LAS1L LBR LEMD2 LETM1 LFNG LHX4 LIFR LIG4 LMBR1 LMBRD2 LMNA LMX1B LONP1 LRAT LRP2 LRP4 LRPPRC LSM11 LTBP1 LTBP3 LUZP1 MAB21L1 MADD MAFB MAK MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MARS2 MBD5 MBTPS2 MCTP2 MECP2 MED12 MED12L MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MERTK MESD MESP2 METTL23 METTL5 MGAT2 MGP MICU1 MID1 MIPEP MITF MKS1 MLXIPL MMP2 MMP23B MN1 MPDZ MPLKIP MRAS MSL3 MTX2 MUSK MVK MYCN MYH3 MYMK MYMX MYO18B NAA10 NACC1 NALCN NANS NARS2 NBN NEDD4L NEK2 NEK9 NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NFKBIA NGLY1 NHEJ1 NIPBL NODAL NOG NOTCH2 NOVA2 NPHP1 NR2E3 NR2F1 NRAS NRL NSD1 NSD2 NSRP1 NSUN2 NUP188 NUP85 NXN OBSL1 OCLN ODC1 OFD1 ORC4 OTX2 PACS1 PAFAH1B1 PAH PAICS PAK3 PAM16 PARS2 PAX1 PAX3 PAX7 PBX1 PCARE PCDHGC4 PCGF2 PCNT PDE4D PDE6A PDE6B PDE6D PDE6G PDGFRB PDHA1 PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM2L1 PHF21A PHF8 PHGDH PHIP PIBF1 PIEZO2 PIGA PIGF PIGL PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PKHD1 PLCB3 PLCH1 PLEC PLK4 PLOD3 PMM2 PNKP POC1A POGZ POLD1 POLG2 POLR3A POLRMT POMGNT1 POR PORCN POU1F1 POU4F1 PPM1D PPP1CB PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP3CA PQBP1 PRCD PRDM16 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKD1 PRMT7 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PSAT1 PTCH1 PTEN PTF1A PTH1R PTPN11 PTPRF PUF60 PURA PUS1 PUS7 PYCR1 PYCR2 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAI1 RALA RALGAPA1 RARB RBBP8 RBM10 RBM8A RBMX RBP3 RDH11 RDH12 RECQL RECQL4 REEP6 RERE RET RFX7 RGR RHO RHOA RHOBTB2 RIC1 RIPK4 RIPPLY2 RLBP1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF125 RNF135 RNF2 RNU4ATAC RNU7-1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPS19 RPS6KA3 RREB1 RTL1 RUNX2 RUSC2 RYR1 SAG SALL4 SAMHD1 SATB2 SC5D SCAPER SCARF2 SCN1A SCN1B SCN2A SCNM1 SCYL2 SEC23A SEC24C SEMA4A SET SETBP1 SETD1A SETD2 SETD5 SH3PXD2B SHANK3 SHH SHOC2 SIK1 SIM1 SIN3A SIX2 SIX3 SKI SKIC3 SLC17A5 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC32A1 SLC35C1 SLC37A4 SLC6A1 SLC6A9 SLC7A14 SLX4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMOC1 SMPD4 SMS SNAP29 SNIP1 SNRNP200 SNRPN SNX14 SOST SOX10 SOX11 SOX3 SOX4 SOX5 SOX9 SPATA5 SPATA7 SPECC1L SPEN SPOP SPRTN SPTBN1 SRCAP SRD5A3 STAG2 STAT5B STIL STXBP1 SUFU SUMF1 SUPT16H SUZ12 SYNGAP1 SYT1 TAF1 TAF6 TAPT1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBX1 TBX2 TBX4 TBX6 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TFAP2A TFAP2B TGDS TGFB3 TGIF1 THOC6 THUMPD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM53 TMEM67 TMEM70 TMEM94 TMLHE TOE1 TOGARAM1 TONSL TOPORS TOR1A TP63 TPR TRAF6 TRAIP TREX1 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRMT10A TRPM3 TRPS1 TRPV6 TRRAP TSPEAR TTC26 TTC8 TUB TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNDC15 TXNL4A UBE2A UBE3B UBE4B UBR1 UFC1 UFD1 UNC80 USB1 USH2A USP9X VAC14 VPS13B VPS35L VPS51 WAC WASHC4 WDR19 WDR26 WDR35 WDR4 WDR62 WDR73 WLS WNT5A WNT9B WRN WWOX XPA XPC XRCC4 XYLT1 YWHAE YY1 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF292 ZNF408 ZNF423 ZNF462 ZNF513 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_EXTEROCEPTIVE_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTEROCEPTIVE_SENSATION ABCA1 ABCD1 ADA2 AEBP1 AIFM1 AIP ALAD ALDH18A1 ALDH4A1 APP ATL1 ATL3 ATP13A2 ATP1A2 ATP7B ATXN1 BMPR1A BSCL2 C4A CACNA1A CACNA2D1 CALR CASR CBLIF CCND1 CCR1 CCT5 CDKL5 CHAMP1 CHST14 CLCNKB CLTCL1 COL1A1 COMP COQ6 CTDP1 CUBN DCAF8 DDHD1 DEAF1 DEPDC5 DHH DKK1 DNM1L DSE EBF3 ELP1 EPCAM ERAP1 FAN1 FAR1 FAS FBN1 FGD4 FLII FMR1 GABBR2 GABRG2 GALC GATA1 GBE1 GDAP1 GJB1 GLA GNA11 GNA14 GNAS GNB4 GPR101 GRIA3 GRIN2A H19 HARS1 HDAC4 HERC2 HEXB HINT1 HK1 HLA-B HLA-DQB1 HLA-DRB1 HMBS HNRNPK HPDL HPGD HRAS HSPB1 IARS2 IFNGR1 IGF2 IL10 IL12A IL12A-AS1 IL23R IL6ST IQSEC2 JAG1 JAK2 KCNJ1 KCNQ1OT1 KDM5C KIF1A KIF5A KLHL9 KLRC4 KRAS KRT1 KRT14 KRT16 KRT5 KRT9 LIFR LIG3 LITAF LMX1B LZTR1 MADD MAGEL2 MCM3AP MECP2 MEFV MEN1 MFN2 MKRN3 MLH1 MLH3 MORC2 MPL MPV17 MPZ MSH2 MSH6 MTHFR MTRFR MYORG NAGA NAGLU NALCN NARS1 NDN NDRG1 NEFL NF2 NGF NGLY1 NKX6-2 NLRP3 NPAP1 NPRL2 NPRL3 NTNG1 NTRK1 OCA2 OPA3 P4HA2 PDCD1 PDK3 PDXK PEX16 PIK3CA PLEKHG4 PMP2 PMP22 PMS1 PMS2 PNPT1 POLG PRDM12 PRNP PRORP PRPS1 PRRT2 PSAP PTPN22 PWAR1 PWRN1 RAB7A RAI1 RELA RETREG1 RFX7 RNF170 RPS20 RRM2B SACS SBF2 SCN10A SCN11A SCN1A SCN4A SCN9A SCYL1 SDHA SEMA4A SEPTIN9 SERPING1 SETX SH2B3 SH3TC2 SHANK3 SIM1 SLC12A1 SLC12A3 SLC19A2 SLC26A2 SLC2A1 SLCO2A1 SMARCB1 SMC1A SNORD115-1 SNORD116-1 SNRPN SORD SPTLC1 SPTLC2 SRPX2 STAT4 STX16 SYNGAP1 TDP1 TET2 TGFBR2 TGM1 THPO TK2 TLR4 TMEM218 TNFRSF1A TP53 TRAPPC2 TRIM32 TRIO TRPM3 TWNK TYMP UBAC2 UBTF UNC80 UROD UROS VCP VWA1 WNK1 YY1 ZEB2 ZFHX2 ZFTA HP_ABNORMAL_EYEBROW_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYEBROW_MORPHOLOGY AARS1 AASS ABCA12 ABCA5 ABCC9 ABL1 ACER3 ACTB ACTG1 ADA ADAM17 ADAMTS3 ADAT3 AEBP1 AFF3 AFF4 AHI1 AHSG AIFM1 AIP ALOX12B ALOXE3 ALX1 ALX4 AMMECR1 ANAPC1 ANKRD11 ANTXR1 APCDD1 APTX ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARX ASH1L ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATAD3A ATP1A2 ATP1A3 ATP6V1B2 ATR AUTS2 AXIN2 B3GAT3 B4GALT7 B9D1 B9D2 BANF1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL11B BCOR BCR BICRA BMP2 BPTF BRAF BRD4 BRF1 C12orf57 CACNA1A CAMK2G CASZ1 CBL CBY1 CC2D2A CCDC47 CCDC8 CCNK CDC42 CDC42BPB CDC45 CDH11 CDH2 CDH3 CDK10 CDK13 CDK19 CDKL5 CDON CDSN CEP104 CEP120 CEP19 CEP290 CEP41 CERT1 CFAP418 CHD1 CHD5 CHD7 CHD8 CHMP1A CHRNA7 CHST3 CHSY1 CLCN3 CLCN6 CLDN1 CLP1 CNOT2 COG6 COL11A1 COL18A1 COL1A2 COL3A1 COLEC10 COLEC11 COX5A COX7B CPLANE1 CPLX1 CREBBP CRIPT CRKL CSNK2A1 CSPP1 CTBP1 CTC1 CTCF CTU2 CUL4B CUL7 CWC27 CWF19L1 CYFIP2 CYP4F22 DCAF17 DCLRE1C DDB1 DDX3X DDX6 DEAF1 DENND5A DHX30 DKC1 DLX4 DNAJC21 DNMT3A DOCK7 DOLK DPF2 DPH1 DPH2 DPH5 DSC3 DSG4 DSP EBF3 EBP ECEL1 EDA EDA2R EDAR EDARADD EDN3 EDNRB EGFR EHMT1 EIF5A ELN EMC10 EP300 EPS8L3 ERLIN2 ERMARD ESCO2 EXT1 FAM111B FAM149B1 FAM20C FAR1 FAS FBN1 FBXL4 FBXO28 FBXO31 FGF3 FGFR1 FGFRL1 FHL1 FIG4 FLI1 FLII FOXG1 FOXL2 FOXP2 FRA10AC1 FRAS1 FREM1 FRMD4A FUCA1 GABRA3 GABRD GAD1 GJA1 GJA5 GJA8 GJB2 GJB6 GNB2 GNE GNPTAB GNS GPR101 GPRASP2 GTPBP2 GUSB H3-3A H4C11 H4C5 H4C9 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HECTD4 HECW2 HEPHL1 HERC1 HGSNAT HID1 HIVEP2 HMGA2 HNRNPH1 HNRNPK HNRNPU HR HRURF HSPA9 HSPG2 HYLS1 IARS2 IDUA IFT172 IFT27 IFT74 IGF1R IL1RAPL1 IL2RG IL7R INPP5E INTS1 IQSEC2 IRX5 ITGA3 ITGB6 JARID2 JUP KANK2 KAT5 KAT6A KATNB1 KATNIP KCNAB2 KCNH1 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KDF1 KDM1A KDM4B KDM5C KDM6A KIAA0586 KIAA0753 KIF26A KIF7 KIFBP KIT KLF13 KMT2A KMT2C KMT2D KMT5B KNL1 KRAS KREMEN1 KRT17 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LARP7 LAS1L LEMD3 LETM1 LIG4 LIPH LIPN LMBRD2 LMNA LMX1B LPAR6 LRP1 LRPPRC LSS LTBP1 LTBP3 LTV1 LUZP1 LZTFL1 LZTR1 MAB21L1 MADD MAF MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MBD5 MBTPS2 MC1R MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEGF8 MEIS2 MESD MGAT2 MITF MKKS MKS1 MLXIPL MMP23B MN1 MTHFS MTX2 MYO5A NAA10 NAGLU NANS NBAS NCAPG2 NDST1 NECTIN1 NELFA NEPRO NF1 NFIB NFIX NHP2 NIPAL4 NIPBL NMNAT1 NOP10 NOTCH2 NPHP1 NPM1 NRAS NRCAM NSD1 NSD2 NSUN2 NUDT2 NUP188 OBSL1 OCA2 ODC1 OFD1 OGT OTUD6B OTX2 PACS1 PACS2 PARN PAX3 PCDHGC4 PCNT PDCD6IP PDE6D PDPN PEX1 PEX6 PGAP1 PGAP2 PGAP3 PHF6 PHF8 PHIP PI4KA PIBF1 PIGG PIGK PIGL PIGN PIGO PIGS PIGV PIGW PIGY PKP1 PLXNA1 PNPLA6 POLA1 POLR3A PPP1CB PPP1R15B PPP1R21 PPP2R3C PQBP1 PRDM16 PRKCZ PRKD1 PRKG2 PRR12 PRRX1 PSMC1 PSMC3 PSMD12 PTCH1 PTPN22 PTPRF PUF60 PURA PUS7 PYCR2 RAC1 RAD21 RAF1 RAG1 RAG2 RAI1 RALA RALGAPA1 RBL2 RBM10 RECQL4 RERE RET RHOBTB2 RIN2 RIPK4 RMRP RNF113A RNF125 RNF2 RNU12 RNU4ATAC ROBO1 RPGRIP1L RPL21 RPS23 RPS28 RPS6KA3 RTEL1 RUSC2 SATB1 SCAPER SCARF2 SCLT1 SCN4A SDCCAG8 SDR9C7 SEMA3E SETBP1 SETD1B SETD2 SETD5 SF3B4 SGSH SHANK3 SHMT2 SHOC2 SIAH1 SIM1 SIN3A SKI SLC1A3 SLC1A4 SLC25A24 SLC29A3 SLC35A2 SLC35C1 SLC39A4 SLC45A1 SLC6A17 SLC9A6 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMOC1 SMPD4 SMS SNAI2 SNRPE SON SOS1 SOS2 SOX10 SOX11 SOX18 SOX4 SOX6 SPATA5 SPECC1L SPEN SPINK5 SPOP SPRED2 SPTBN1 ST14 STAG1 STAG2 STRADA STXBP1 SUFU SULT2B1 SUMF1 SUPT16H SYT1 SZT2 TAF1 TAF6 TALDO1 TASP1 TBCD TBCK TBL1XR1 TBX3 TBX4 TCF4 TCTN1 TCTN2 TCTN3 TERC TERT TFAP2B TFE3 TGDS TGM1 THUMPD1 TINF2 TMCO1 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TMEM94 TOE1 TOGARAM1 TOPORS TP63 TRAPPC10 TRAPPC9 TRIM32 TRIM8 TRIO TRMT1 TRMT10A TRPS1 TRRAP TTC5 TTC7A TTC8 TTI2 TUBGCP2 TWIST2 TYMS TYRP1 UBE2A UBE3B UBE4B UBR7 UFC1 UGDH UGP2 UQCC2 UROS USB1 VAC14 VPS13B VPS33A VPS35L WAC WARS1 WASHC4 WDPCP WDR26 WDR35 WLS WNT10A WNT10B WNT4 WRAP53 XYLT1 XYLT2 YY1 ZBTB18 ZBTB20 ZEB2 ZIC2 ZMPSTE24 ZMYND11 ZNF292 ZNF407 ZNF423 ZNF462 ZNF699 ZNF711 ZSWIM6 HP_ABNORMAL_EYELASH_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELASH_MORPHOLOGY ABCC9 AFF4 ALX1 ALX4 ANAPC1 ANTXR1 AP3B2 APCDD1 ARHGEF2 ARID1A ARID1B ARID2 ASXL2 ASXL3 ATP6V1B2 AXIN2 B4GALT7 BANF1 BICRA BLM BMP1 BRAF BRCA1 BRD4 CAMKMT CAMTA1 CANT1 CCDC47 CDC42BPB CDH1 CDH3 CDSN CHD1 CHMP1A CLDN1 CLP1 CNOT2 COL11A1 COL25A1 COL3A1 COX5A COX7B CREBBP CSF1R CSGALNACT1 CST6 CTC1 CTCF CTDP1 CTNND1 CWC27 DDB1 DENND5A DHCR7 DKC1 DLX4 DNMT3B DOCK7 DOLK DPF2 DPH1 DPH5 DPYD DSC3 DSG4 DSP DUX4 DUX4L1 DVL1 DVL3 EBP EDA EDAR EDARADD EDN3 EDNRA EDNRB EGFR EP300 EPS8L3 EXOC8 FAM111B FAS FBN1 FBXO11 FGF10 FGF5 FGFR1 FIG4 FOXC2 FRAS1 FRG1 FRMD4A FZD2 GATA1 GJA1 GJA5 GJA8 GJB2 GJB6 GNB2 GTPBP2 H4C5 HCCS HDAC8 HECTD4 HID1 HOXC13 HPDL HR HRURF HSPG2 IRX5 ITGA3 JUP KANK2 KCNH1 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KDM6A KIF11 KIT KMT2A KMT2D KRAS KREMEN1 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LIPH LMNA LMNB1 LPAR6 LRP1 LSS LTBP1 LTBP3 LTV1 MAB21L1 MAB21L2 MADD MAF MAN1B1 MAP2K1 MAP2K2 MBD5 MBTPS2 MC1R MED27 MGAT2 MITF MLPH MOGS MPLKIP MYO5A NAA10 NCAPG2 NDUFB11 NECTIN1 NECTIN4 NF1 NHP2 NIPBL NOP10 NOTCH2 NPM1 NRCAM NXN OCA2 ODC1 ORC1 OTUD6B PACS1 PARN PAX3 PGM2L1 PHGDH PKP1 PLCD1 PLK4 PNPLA6 POLR1B POLR1C POLR1D POLR3A PPM1B PREPL PRR12 PTPN22 PUF60 PUS1 PYCR2 RAC3 RAD21 RECQL RECQL4 RHOBTB2 RIPK4 RMRP RNF2 RNU12 RNU4ATAC ROR2 RPL21 RPS23 RTEL1 RUSC2 SATB2 SEC31A SF3B4 SHANK3 SHOC2 SLC25A24 SLC30A9 SLC35C1 SLC3A1 SLC6A9 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMOC1 SNAI2 SNRPE SOX10 SOX11 SOX18 SOX4 SPEN SPINK5 SPOP SRCAP ST14 STAG1 STAG2 TAF1 TAF6 TBX4 TCOF1 TENT5A TERC TERT TIMM50 TINF2 TMCO1 TP63 TRPS1 TSR2 TUBGCP4 TUBGCP6 TWIST2 TYMS TYRP1 UFC1 UROD UROS USB1 VAC14 VARS1 VPS13B VPS33A VPS51 WDR35 WNT10A WNT5A WRAP53 XYLT1 YARS2 ZFHX4 ZMPSTE24 ZNF699 HP_ABNORMAL_EYELID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELID_MORPHOLOGY AARS1 ABAT ABCA1 ABCA12 ABCA5 ABCC9 ABCG8 ABHD5 ABL1 ACOX1 ACSL4 ACTB ACTG1 ACTL6B ADA2 ADAM17 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADARB1 ADAT3 ADH5 ADNP AFF2 AFF3 AFF4 AGO1 AGO2 AGR2 AHDC1 AHI1 AIP AKT1 AKT3 ALDH1A2 ALDH1A3 ALDH6A1 ALDOA ALG12 ALG14 ALG2 ALG3 ALG9 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANAPC1 ANGPT2 ANK1 ANKH ANKLE2 ANKRD11 ANKRD17 ANTXR1 AP1G1 AP1S1 AP3B1 AP3B2 AP4E1 APC APC2 APCDD1 APOA1 APOA2 APOB APOE ARCN1 ARHGEF2 ARID1A ARID1B ARID2 ARL3 ARL6 ARPC1B ARV1 ARVCF ARX ASPH ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATAD3A ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATR ATRIP ATRX AUTS2 AXIN2 B3GAT3 B3GLCT B4GALT7 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL11A BCL11B BCL7B BCOR BCORL1 BCR BGN BICRA BLM BLNK BLTP1 BMP1 BMP2 BMPER BMPR1A BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BUB1 BUB1B BUB3 BUD23 C12orf4 C12orf57 C2CD3 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2A CAMK2G CAMKMT CAMTA1 CANT1 CARD14 CARS1 CASK CASZ1 CBL CCBE1 CCDC115 CCDC22 CCDC32 CCDC47 CCDC88A CCND2 CCNK CCNQ CD28 CD79A CD79B CD96 CDC42 CDC42BPB CDCA7 CDH1 CDH11 CDH2 CDH3 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDSN CELF2 CENPE CENPJ CENPT CEP135 CEP152 CEP19 CEP290 CEP55 CEP57 CEP63 CERS3 CERT1 CFAP418 CHAMP1 CHD1 CHD3 CHD4 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHUK CILK1 CIT CKAP2L CLCN3 CLCN4 CLCN7 CLDN1 CLIP2 CLP1 CLTC CLTCL1 CNKSR2 CNOT1 CNOT2 CNOT3 CNTNAP1 CNTNAP2 COA3 COG1 COG6 COG7 COG8 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL25A1 COL3A1 COL5A1 COL5A2 COL9A3 COLEC10 COLEC11 COMT COPB1 COPB2 COQ4 COX5A COX7B CPLANE1 CPLX1 CREBBP CRIPT CRKL CRTAP CSF1R CSGALNACT1 CSNK2A1 CSPP1 CST6 CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNND1 CTNND2 CTU2 CUL4B CUX1 CWC27 CYFIP2 CYP27A1 CYP4F22 DACT1 DALRD3 DCHS1 DDB1 DDB2 DDHD2 DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHODH DHX16 DHX30 DIS3L2 DKC1 DLG3 DLK1 DLX4 DMXL2 DNA2 DNAJC21 DNAJC30 DNM1 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOK7 DOLK DONSON DPF2 DPH1 DPH2 DPH5 DPM1 DPP9 DPYD DPYSL5 DSC3 DSE DSG4 DSP DUX4 DUX4L1 DVL1 DVL3 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP ECEL1 EDA EDAR EDARADD EDEM3 EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EGFR EHMT1 EIF2AK3 EIF4H EIF5A ELN EP300 EPG5 EPHX2 EPS8L3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERMARD ESCO2 ESS2 ETFA ETFB ETFDH EXOC2 EXOC8 EXOSC1 EXOSC2 EXOSC9 EXT2 EZH2 FAM111B FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FAT4 FBLN5 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FDFT1 FERMT1 FGD1 FGF10 FGF12 FGF13 FGF20 FGF3 FGF5 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FKBP14 FKBP6 FLCN FLI1 FLII FLNA FLNB FLT4 FOCAD FOXC1 FOXC2 FOXG1 FOXL2 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRG1 FRMD4A FTSJ1 FZD2 FZR1 G6PC1 GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRD GABRG2 GAD1 GALNT2 GATA1 GATA2 GATA4 GATAD2B GBA1 GDF11 GFRA1 GHR GJA1 GJA5 GJA8 GJB2 GJB6 GJC2 GLE1 GLI3 GLIS3 GMNN GNB2 GNE GNPTAB GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPRASP2 GPT2 GREB1L GRIA1 GRIA3 GRIN2D GRIP1 GSC GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB H1-4 H3-3A H4C11 H4C3 H4C5 H4C9 HBA1 HBA2 HBB HCCS HCN1 HDAC4 HDAC8 HEATR3 HECTD4 HECW2 HELLS HERC1 HERC2 HHAT HIBCH HIC1 HID1 HIRA HIVEP2 HK1 HLA-B HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXB1 HOXC13 HPDL HR HRAS HRURF HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 IDH1 IFIH1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGBP1 IGF1R IGHM IGLL1 IKZF1 IL11RA IL1RAPL1 IL6ST INPP5E INPPL1 INTS1 IPO8 IQSEC2 IRF6 IRX5 ITGA3 ITGA6 ITGA8 ITGB4 JAG1 JARID2 JMJD1C JUP KANK2 KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KCNA2 KCNAB2 KCNB1 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIF11 KIF14 KIF15 KIF1A KIF21A KIF26A KIF7 KIFBP KIT KITLG KLF13 KMT2A KMT2B KMT2C KMT2D KMT2E KMT5B KNL1 KNSTRN KPTN KRAS KREMEN1 KRT10 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LARP7 LDHD LDLR LETM1 LIFR LIG4 LIMK1 LIPH LIPN LMBRD1 LMBRD2 LMNA LMNB1 LMX1B LONP1 LPAR6 LPL LRP1 LRP2 LRP4 LRRC8A LSM11 LSS LTBP1 LTBP3 LTV1 LUZP1 LZTFL1 LZTR1 MAB21L1 MAB21L2 MACF1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MBD5 MBTPS2 MC1R MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 METTL27 METTL5 MFSD2A MGAT2 MICU1 MID1 MINPP1 MITF MKKS MKRN3 MKS1 MLPH MLXIPL MMP23B MN1 MOGS MPC1 MPDZ MPLKIP MRAS MRPL12 MRPS2 MSL3 MSMO1 MTHFS MTOR MTSS2 MUSK MVK MYCN MYH3 MYL11 MYMK MYMX MYO5A MYOD1 NAA10 NAA20 NALCN NANS NARS1 NBAS NBN NCAPD3 NCAPG2 NCDN NCF1 NDN NDST1 NDUFB11 NDUFS4 NECAP1 NECTIN1 NECTIN4 NEK1 NEK9 NELFA NEXMIF NF1 NFIA NFIB NFIX NGLY1 NHP2 NIPAL4 NIPBL NOG NONO NOP10 NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NPM1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NTRK2 NUAK2 NUP188 NUP37 NUP85 NUS1 NXN OCA2 OCRL ODC1 OFD1 OGDHL ORC1 ORC6 OSGEP OTUD5 OTUD6B P4HB PACS1 PACS2 PAFAH1B1 PAH PAK2 PAK3 PALB2 PARN PARS2 PAX3 PBX1 PCDHGC4 PCGF2 PCLO PCNT PCSK9 PDE11A PDE4D PDE6D PDGFRB PDHX PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PGM3 PHC1 PHF21A PHF6 PHF8 PHGDH PHIP PHOX2A PHOX2B PIEZO1 PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PKDCC PKP1 PLCD1 PLEC PLK4 PLOD1 PLPBP PLXND1 PMM2 PNPLA1 PNPLA6 POGZ POLA1 POLH POLR1A POLR1B POLR1C POLR1D POLR3A POLR3GL POLRMT POU3F3 POU4F1 PPM1B PPP1CB PPP1R12A PPP1R15B PPP1R17 PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM13 PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCZ PRMT7 PRORP PRPS1 PRR12 PRRX1 PSAT1 PSMD12 PSPH PTCH1 PTCH2 PTEN PTH1R PTPN11 PTPN22 PUF60 PURA PUS1 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QARS1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RALA RAPSN RASA2 RAX RB1 RBBP8 RBM10 RBMX RBPJ RDH11 RECQL RECQL4 RERE RET REV3L RFC2 RFWD3 RFX7 RHOA RHOBTB2 RIC1 RIN2 RIPK4 RIT1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF135 RNF2 RNU12 RNU4ATAC RNU7-1 ROR2 RPL10 RPL11 RPL15 RPL18 RPL21 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPRY1 RTEL1 RTL1 RTTN RUSC2 RYR1 RYR3 SALL1 SALL4 SAMHD1 SARS1 SASS6 SATB1 SATB2 SC5D SCAPER SCARF2 SCLT1 SCN3A SCN4A SCN8A SCNM1 SDCCAG8 SDR9C7 SEC24C SEC24D SEC31A SEMA3E SEMA5A SEPTIN9 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B2 SF3B4 SH3BP2 SH3PXD2B SHANK3 SHOC2 SHROOM4 SIAH1 SIM1 SIN3A SIX2 SKI SKIC3 SLC13A5 SLC17A5 SLC19A3 SLC1A2 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC30A9 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC39A13 SLC39A4 SLC39A7 SLC3A1 SLC45A1 SLC6A17 SLC6A9 SLC9A7 SLF2 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMO SMOC1 SMPD4 SMS SNAI2 SNAP29 SNORD115-1 SNORD116-1 SNRPB SNRPE SNRPN SNX14 SON SOS1 SOS2 SOX10 SOX11 SOX18 SOX4 SOX5 SOX6 SOX9 SPART SPATA5L1 SPECC1L SPEN SPI1 SPINK5 SPOP SPRED1 SPRED2 SPTBN1 SRCAP SREBF1 SRY ST14 STAC3 STAG1 STAG2 STEEP1 STIL STRA6 STT3A STX1A STXBP1 SUFU SULT2B1 SUPT16H SUZ12 SVBP SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TAF13 TAF6 TAPT1 TARS1 TASP1 TBC1D24 TBC1D2B TBCD TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TBX6 TCF20 TCF3 TCF4 TCOF1 TCTN3 TELO2 TENM3 TENT5A TERC TERT TFAP2A TFAP2B TFE3 TGDS TGFB2 TGFB3 TGFBI TGM1 THOC6 THUMPD1 TIMM50 TINF2 TLK2 TMCO1 TMEM107 TMEM147 TMEM216 TMEM237 TMEM270 TMEM53 TNFRSF1B TNNI2 TNRC6B TOE1 TONSL TOPORS TOR1A TP63 TPRKB TRAF3IP2 TRAF7 TRAIP TRAK1 TRAPPC10 TRAPPC14 TRAPPC9 TREX1 TRIM32 TRIO TRIP12 TRIP13 TRMT1 TRMT10A TRPM3 TRPS1 TRRAP TSPEAR TSR2 TTC26 TTC8 TTPA TUBA1A TUBB TUBB2B TUBB3 TUBGCP2 TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNL4A TYMS TYR TYRP1 UBA5 UBE2A UBE2T UBE3A UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UGDH UGP2 UMPS UNC80 UQCC2 UROD UROS USB1 USP9X VAC14 VAMP1 VARS1 VDR VPS13B VPS33A VPS35L VPS37D VPS51 VPS53 WAC WARS1 WAS WASF1 WASHC5 WDPCP WDR19 WDR35 WDR37 WDR4 WDR62 WDR73 WIPF1 WNT10A WNT5A WNT7A WNT9B WRAP53 WT1 WWOX XPA XPC XPNPEP2 XRCC2 XRCC4 XYLT1 YARS1 YARS2 YWHAE YWHAG YY1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZEB2 ZFHX4 ZIC1 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF407 ZNF462 ZNF469 ZNF526 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_FACIAL_EXPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_EXPRESSION ACTA1 ADH1C ALDH7A1 ASXL3 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP7A ATXN2 ATXN8OS BCL11B CACNA1A CC2D1A CCDC174 CERT1 CLTC CNTNAP1 COL25A1 CP CREBBP DCTN1 DDHD2 DLK1 DMXL2 DNA2 DNAJC13 DNAJC6 DNM2 DNMT3B DPM2 DUX4 DUX4L1 EBF3 EIF2AK2 EIF4G1 EP300 ERGIC1 FA2H FBXO7 FKRP FKTN FMR1 FRG1 FTL GABRA1 GABRG2 GATAD2B GBA1 GFM2 GIGYF2 GIPC1 GLE1 GLI3 GLUD2 GMPPB GOSR2 HACD1 HLA-DQB1 HOXB1 HPSE2 HSPG2 IRF6 ITGA7 ITPR1 JAM2 KCNH1 KCNJ6 KCNK9 KCNQ2 KCNQ3 KDM6A KLHL41 KMT2D KNSTRN LAMA2 LARGE1 LRIG2 LRP12 LRRK2 MAP3K20 MAPT MECP2 MEG3 MRE11 MSTO1 MSX1 MT-TT MTMR14 MYH2 MYH3 MYH7 MYL1 MYL2 MYMX NEB NECTIN1 NOTCH2NLC NR4A2 OGDHL PABPN1 PANK2 PAX6 PCDH19 PDE2A PDGFB PDGFRB PIEZO2 PIK3CD PLA2G6 PLAA PLPBP PLXND1 PMP22 PNKD PNPT1 PODXL POLG POLG2 POMT1 POMT2 PRDX3 PRNP PRRT2 PTRH2 PURA PYROXD1 REV3L RILPL1 RIPK4 RRM2B RTL1 RYR1 SCN1A SCN1B SCN2A SCN9A SCYL2 SELENON SGCB SLC16A2 SLC18A2 SLC20A2 SLC25A4 SLC30A10 SLC39A14 SLC52A3 SLC6A3 SLC6A8 SLC6A9 SLC9A7 SMCHD1 SNCA SNCAIP SPR SPTBN4 STAC3 SYNJ1 TAFAZZIN TANGO2 TBP TECPR2 TH TK2 TNNT1 TNPO2 TP63 TPM2 TPM3 TRIM32 TTR TWNK TXNL4A UBA1 UBA5 UBE3A UFC1 VAMP1 VPS35 VPS41 HP_ABNORMAL_FACIAL_SHAPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SHAPE AARS1 AASS ABCA5 ABCC9 ACADS ACE ACER3 ACTA1 ACTB ACTG1 ACTG2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADARB1 ADAT3 ADGRG1 ADGRG6 ADNP ADSL AEBP1 AFF4 AGA AGO1 AGPAT2 AGRN AGT AGTR1 AHCY AHDC1 AHI1 AIFM1 AIMP1 AIP AKT1 AKT2 ALDH18A1 ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG6 ALG8 ALG9 ALKBH8 ALMS1 AMER1 AMMECR1 ANGPT2 ANKRD11 ANKRD17 ANOS1 ANTXR2 AP1S2 AP2M1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC5 ARMC9 ARSB ARSK ARVCF ARX ASAH1 ASPH ASXL1 ASXL2 ATAD3A ATG7 ATP10A ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 AXIN2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BAP1 BAZ1B BCAP31 BCAS3 BCL7B BCOR BCORL1 BCR BIN1 BLM BMP1 BMP4 BMPR1A BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRCC3 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BSND BUB1 BUB1B BUB3 BUD23 C12orf4 C12orf57 C2CD3 CA2 CACNA1C CACNA2D2 CAMK2G CAMTA1 CANT1 CARS1 CASK CAV1 CAVIN1 CBL CBY1 CC2D2A CCBE1 CCDC115 CCDC174 CCDC47 CCDC8 CD28 CDC42 CDC42BPB CDC6 CDCA7 CDH1 CDH11 CDH23 CDK10 CDK13 CDK8 CDKN1C CENPE CENPJ CENPT CEP104 CEP120 CEP152 CEP290 CEP41 CEP55 CEP57 CEP85L CFL2 CHAMP1 CHAT CHD2 CHD4 CHD7 CHN1 CHRNA1 CHRNA7 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHSY1 CIITA CLCF1 CLCN3 CLCN4 CLCNKA CLCNKB CLIC2 CLIP2 CLTCL1 CNOT1 CNP CNTN1 CNTNAP2 COG1 COG2 COG4 COG7 COL11A1 COL11A2 COL13A1 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COMT COQ4 COX7B CPE CPLANE1 CPLX1 CPSF3 CREBBP CRKL CRLF1 CRTAP CSGALNACT1 CSPP1 CTBP1 CTCF CTDP1 CTLA4 CTNNB1 CTNND1 CTNND2 CTSA CUL4B CUL7 CUX1 CWC27 DACT1 DCAF17 DCHS1 DCPS DDR2 DDX11 DDX3X DDX59 DEAF1 DENND5A DHX30 DHX37 DIS3L2 DLK1 DLL1 DNA2 DNAJC19 DNAJC30 DNM1 DNMT3A DNMT3B DOCK3 DPF2 DPH1 DPH2 DPM2 DSTYK DVL1 DYM DYRK1A EBF3 EBP ECEL1 EDA EDARADD EDN1 EDNRA EED EFEMP2 EFNB1 EHMT1 EIF2S3 EIF4H ELMO2 ELN ELOVL4 EMC1 EMC10 EP300 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERF ERMARD ETFA ETFB ETFDH EXOC2 EXOC8 EXOSC9 EXT2 EXTL3 EYA1 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARSA FAT4 FBLN5 FBN1 FBXL4 FBXO11 FBXO31 FGD1 FGF10 FGF20 FGF3 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FKBP10 FKBP6 FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FN1 FOCAD FOS FOXE1 FRA10AC1 FRAS1 FTO FUCA1 G6PC1 GAD1 GALNS GALNT2 GATA1 GBA1 GDF3 GDF5 GDF6 GFPT1 GFRA1 GHR GINS1 GIPC3 GJA1 GJA5 GJA8 GJB2 GJB6 GJC2 GLA GLB1 GMPPA GNAI3 GNAS GNE GNPTAB GNPTG GNS GP1BB GPC3 GPC4 GPC6 GPR101 GRB10 GRHL3 GRIN1 GRIN2A GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 H4C5 HACD1 HCCS HDAC4 HDAC8 HECTD4 HELLS HEPHL1 HERC1 HESX1 HEXB HGSNAT HIBCH HIRA HMGA2 HNRNPH1 HNRNPK HOXD13 HPGD HPSE2 HRAS HS2ST1 HS6ST2 HSD17B10 HSPG2 HUWE1 HYLS1 HYOU1 IARS1 IDS IDUA IFITM5 IFT57 IFT74 IGF1 IGF1R IGF2 INPP5E INSR IQSEC2 IRF6 ITCH ITGA3 ITGA7 ITGA8 JAG1 JAK3 JARID2 JMJD1C KANSL1 KAT5 KAT6A KAT6B KATNB1 KATNIP KBTBD13 KCNA1 KCNC3 KCNH1 KCNJ1 KCNJ2 KCNJ5 KCNJ8 KCNK9 KCNN3 KCNQ1 KCNQ1OT1 KDM4B KDM5B KDM6B KIAA0586 KIAA0753 KIF15 KIF22 KIF4A KIF7 KLF13 KLHL15 KLHL41 KMT2A KMT2B KMT2C KMT2D KMT2E KNSTRN KRAS L1CAM LAMB2 LAMTOR2 LARP7 LAS1L LEMD2 LEMD3 LETM1 LHX3 LHX4 LIFR LIG4 LIMK1 LMBRD1 LMNA LMOD3 LMX1B LONP1 LRP4 LRP6 LRPPRC LTBP1 LTBP3 LYSET LZTR1 MACF1 MAD2L2 MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAN2C1 MANBA MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MATN3 MBD5 MCOLN1 MCTP2 MED12 MED12L MED13L MEG3 MEIS2 MEN1 MEOX1 METTL27 MGAT2 MGP MICU1 MID1 MID2 MIR17HG MKS1 MLXIPL MMACHC MMP14 MMP2 MN1 MOCS1 MOCS2 MOGS MORC2 MPDZ MPL MPLKIP MRAS MRPL12 MRPS28 MRPS34 MSTO1 MSX1 MTM1 MTOR MTRFR MTX2 MVK MYCN MYH3 MYH8 MYL2 MYO9A MYOD1 MYPN MYSM1 NAA10 NAGA NAGLU NALCN NANS NBAS NCF1 NDE1 NDN NDUFB11 NEB NECTIN1 NEDD4L NEU1 NEXMIF NF1 NFIA NFIB NFIX NGLY1 NHEJ1 NHS NIPA1 NIPA2 NKAP NKX2-1 NKX2-5 NKX2-6 NMNAT1 NOG NONO NOTCH2 NOTCH3 NPHP1 NPHP3 NR2F1 NR3C1 NRAS NRCAM NSD1 NSD2 NSDHL NSUN2 NTRK2 NUP107 NUP85 OBSL1 OCA2 OCRL OFD1 OPHN1 ORC6 OSTM1 OTUD5 OTUD6B P3H1 P4HTM PACS1 PACS2 PAH PAICS PAK1 PAK3 PALB2 PAM16 PAPPA2 PAX1 PAX2 PAX3 PAX7 PAX8 PAX9 PBX1 PCDHGC4 PCGF2 PCNT PCYT1A PDE11A PDE4D PDE6D PDHA1 PDHB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM3 PHF21A PHF6 PHF8 PHGDH PHIP PIBF1 PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGK PIGL PIGN PIGO PIGQ PIGS PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PITX2 PKD2 PKHD1 PLAA PLAG1 PLCB4 PLK4 PLOD2 PLOD3 PLXND1 PMM2 POC1A POGZ POLA1 POLD1 POLR1B POLR1C POLR1D POLR3A POR PORCN POU1F1 POU4F1 PPARG PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDX1 PRKACA PRKACB PRKAR1A PRKAR1B PRKG2 PRMT7 PROP1 PRPS1 PSMD12 PSPH PTCH1 PTEN PTF1A PTPN11 PTRH2 PUF60 PUM1 PURA PUS3 PUS7 PYCR1 PYCR2 PYROXD1 RAB33B RAB39B RAB5IF RAC1 RAD21 RAD50 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RBBP8 RBL2 RBMX RDH11 RECQL RECQL4 RELN REN RERE RFC2 RFWD3 RFX5 RFX7 RFXANK RFXAP RHOA RIC1 RIN2 RIT1 RLIM RMRP RNASET2 RNF113A RNF13 RNF135 RNF168 RNU4ATAC ROR2 RPGRIP1L RPL10 RPS17 RPS29 RPS6KA3 RRAS RRAS2 RREB1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SALL1 SALL4 SATB2 SCN1A SCN3A SCN4A SCUBE3 SEC24C SEC24D SEC31A SELENON SEMA3E SEMA5A SEPSECS SEPTIN9 SERPINH1 SET SETBP1 SETD1B SETD2 SF3B2 SGCG SGSH SH2B1 SH3BP2 SH3PXD2B SIM1 SIN3A SIN3B SIX1 SIX5 SKIC2 SKIC3 SLC10A7 SLC12A6 SLC16A2 SLC17A5 SLC18A3 SLC1A4 SLC25A1 SLC25A12 SLC25A24 SLC26A2 SLC26A4 SLC2A1 SLC2A10 SLC2A2 SLC35A2 SLC35B2 SLC35C1 SLC37A4 SLC39A8 SLC45A1 SLC5A7 SLC6A1 SLC6A8 SLC9A6 SLC9A7 SLCO2A1 SLF2 SLX4 SMAD2 SMAD3 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMO SMS SNAP25 SNAP29 SNRPN SNX14 SON SOS1 SOS2 SOST SOX11 SOX18 SOX4 SOX5 SOX6 SOX9 SP7 SPECC1L SPEG SPEN SPOP SPRED1 SPRED2 SPRTN SPTBN1 SRCAP SRD5A3 SSR4 STAG1 STAG2 STAT3 STEEP1 STRADA STT3A STUB1 STX16 STX1A STXBP1 SUFU SUMF1 SUMO1 SUZ12 SVBP SYNE1 SYNGAP1 SYT2 TAB2 TAF1 TAFAZZIN TALDO1 TAOK1 TAPT1 TARS1 TBC1D24 TBC1D2B TBC1D7 TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX2 TBX22 TCF20 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDP2 TECPR2 TELO2 TET3 TFE3 TGFA TGFB1 TGFB3 THOC6 THPO THSD1 TLK2 TMCO1 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM53 TMEM67 TMEM70 TMEM94 TNFRSF1B TNNI2 TNNT1 TNNT3 TNPO2 TNRC6B TOGARAM1 TONSL TOPORS TOR1A TP53 TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRAPPC9 TRIM37 TRIO TRIP11 TRIP13 TRMT10A TRMT5 TRPM3 TRPS1 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSHR TSPAN7 TSPEAR TTC26 TTC5 TTI2 TTN TUBB TUBB4A TUBG1 TUBGCP4 TWIST1 UBA1 UBB UBE2A UBE2T UBE3A UBE3B UFD1 UNC80 UPF3B USP48 USP7 USP8 USP9X VAMP1 VPS11 VPS33A VPS37D WAC WARS2 WDR26 WDR81 WNT10A WNT10B WNT5A WNT7A WRN XRCC2 XRCC4 XYLT1 YY1 ZBTB18 ZBTB24 ZDHHC9 ZEB2 ZFHX4 ZIC1 ZIC2 ZMPSTE24 ZMYM2 ZNF148 ZNF423 ZNF699 ZNF711 ZSWIM6 HP_ABNORMAL_FACIAL_SKELETON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SKELETON_MORPHOLOGY AARS1 ABAT ABCD1 ABCD4 ABL1 ACAN ACP5 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACTG2 ADA ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAMTSL4 ADAT3 ADGRG1 ADGRG6 AEBP1 AFF3 AFF4 AGA AGL AGPAT2 AGRN AHDC1 AIFM1 AIMP2 AIP AKT1 ALDH1A2 ALG1 ALG11 ALG12 ALG13 ALG14 ALG9 ALMS1 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC7 ANK1 ANKH ANKLE2 ANKRD11 ANKRD55 ANO5 ANTXR1 AP1S2 AP2M1 AP3D1 AP4M1 APC APC2 ARCN1 ARHGAP29 ARHGEF38 ARID1B ARID2 ARL6IP6 ARNT2 ARSL ARVCF ARX ASNS ASPH ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATM ATP10A ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAZ1B BBS7 BCAP31 BCL11A BCL11B BCL7B BCR BDNF BGN BICD2 BICRA BIN1 BLM BLNK BLTP1 BMP2 BMP4 BMPER BNC2 BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BSCL2 BTK BUB1 BUB1B BUB3 BUD23 C12orf57 C1R C1S C2CD3 C4B CA2 CACNA1C CACNA1G CAMTA1 CANT1 CARS1 CASK CAV1 CAVIN1 CBFB CBL CC2D2A CCBE1 CCDC103 CCDC22 CCDC32 CCDC39 CCDC40 CCDC65 CCDC88A CCNK CCNO CD19 CD247 CD79A CD79B CD96 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH1 CDH11 CDK5 CDKN1C CDT1 CEACAM3 CEACAM6 CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP290 CEP55 CEP57 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP74 CFI CFL2 CFTR CHAT CHD5 CHD7 CHD8 CHN1 CHRNA1 CHRND CHRNE CHRNG CHST14 CHST3 CHSY1 CHUK CIITA CILK1 CLCA4 CLCF1 CLCN3 CLCN4 CLCN7 CLIC2 CLIP2 CLPB CLTCL1 CNOT1 CNOT2 CNOT3 CNTN1 CNTNAP1 COASY COBLL1 COG1 COG4 COG5 COG6 COG7 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC11 COLQ COMT COX7B CPE CPLANE1 CPLX1 CR2 CREB3L1 CREBBP CRIPT CRKL CRLF1 CRPPA CRTAP CSF1R CSGALNACT1 CSNK2A1 CSNK2B CSPP1 CTBP1 CTC1 CTDP1 CTLA4 CTNND2 CTSK CTU2 CUL4B CUL7 CWC27 CXCR4 CYBA CYBB CYBC1 D2HGDH DCHS1 DCTN4 DDB1 DDB2 DDR2 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHODH DHX30 DICER1 DIS3L2 DKC1 DLG1 DLG3 DLK1 DLX4 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNMT3A DNMT3B DOCK3 DOCK6 DOCK8 DOK7 DONSON DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DRC1 DSE DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L EBP ECEL1 EDA EDEM3 EDN1 EDNRA EED EFEMP2 EFL1 EFTUD2 EHMT1 EIF4A3 EIF4H EIF5A ELANE ELN EMC1 EMG1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERMARD ESCO2 ESS2 EXOC7 EXOSC1 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EZH2 FAM111A FAM149B1 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAT4 FBN1 FBN2 FBXL3 FBXO28 FBXO31 FBXW11 FCGR2A FCGR3A FDFT1 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP6 FKRP FKTN FLCN FLII FLNA FLNB FLVCR2 FMR1 FOCAD FOS FOXC1 FOXC2 FOXE1 FOXE3 FOXF1 FOXG1 FOXJ1 FOXP1 FOXP2 FRA10AC1 FRMPD4 FTO FUCA1 FUT8 FZD2 GABRA3 GAD1 GALNS GAS2L2 GAS8 GATA1 GATA4 GATAD2B GBA1 GCLC GDF11 GEMIN4 GFPT1 GHR GJA1 GJA5 GJA8 GLB1 GLDN GLE1 GLI2 GLI3 GMNN GNA11 GNAI3 GNAS GNB2 GNPAT GNPTAB GOLGA2 GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GRB10 GRHL3 GRIA3 GRIA4 GRIP1 GSC GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C3 H4C5 H4C9 HACD1 HBA1 HBA2 HBB HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HELLS HERC1 HERC2 HEY2 HFE HIRA HLA-DPA1 HLA-DPB1 HMGA2 HMOX1 HMX1 HNF1B HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXB1 HPDL HRAS HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 HYDIN HYLS1 HYMAI HYOU1 IARS2 IBA57 ICOS IDH1 IDS IDUA IFIH1 IFT140 IFT43 IFT80 IGBP1 IGF1 IGF1R IGF2 IGFALS IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IKBKG IL11RA IL17RA IL1RAPL1 IL21R IL2RA IL2RB IL2RG IL6ST INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IRF2BP2 IRF6 IRF8 IRX5 ITGA7 ITGA8 IVNS1ABP JARID2 JMJD1C KAT5 KAT6A KAT6B KATNB1 KBTBD13 KCNC2 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNK9 KCNMA1 KCNN3 KCNN4 KCTD1 KDM4B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF21A KIF22 KIF26A KIF7 KIFBP KL KLHL41 KMT2A KMT2B KMT2D KNL1 KPTN KRAS LAGE3 LAMA2 LAMB2 LARGE1 LARP7 LAS1L LBR LEMD2 LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LMBRD2 LMNA LMOD3 LOX LRBA LRP2 LRP4 LRP5 LRPPRC LRRC32 LRRC56 LRRC8A LTBP3 LTBP4 LZTR1 MAD1L1 MAD2L2 MADD MAF MAFB MAGEL2 MAGT1 MAMLD1 MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MAT2A MBD5 MCIDAS MCM5 MCTP2 MDM4 MECP2 MED12 MED13L MED25 MEG3 MEGF8 MEN1 MESD METTL27 MFAP5 MGAT2 MGP MIA3 MID1 MIF MINPP1 MIPEP MITF MKS1 MLXIPL MMP2 MOGS MPDU1 MPLKIP MRAS MRPS22 MSL3 MSTO1 MSX1 MTHFR MTM1 MTX2 MUSK MYBPC1 MYCN MYH11 MYH3 MYH7 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NARS1 NBAS NBN NCAPG2 NCF1 NCF2 NCF4 NDE1 NDP NDST1 NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK10 NEK9 NELFA NEPRO NEXMIF NF1 NFASC NFIX NFKB1 NFKB2 NFKBIA NGF NHP2 NHS NIPBL NME5 NME8 NONO NOP10 NOTCH2 NOTCH3 NPM1 NPR3 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE2 NSRP1 NSUN2 NTRK1 NUDT2 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B OTX2 P4HB P4HTM PAH PAK2 PALB2 PARN PAX1 PAX3 PAX6 PAX7 PCDHGC4 PCGF2 PCNT PDE11A PDE4D PDE6D PDGFRA PDGFRB PDZD8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM1 PGM3 PHF21A PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PITX2 PKDCC PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB4 PLEKHM1 PLK4 PLOD3 PLVAP PLXND1 PMM2 PNKD PNP POC1A POGZ POLA1 POLD1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 POR POU1F1 PPARG PPP1R12A PPP1R15B PPP3CA PQBP1 PRDM13 PREPL PRIM1 PRKACA PRKACB PRKAR1A PRKCD PRKG1 PRKG2 PRMT7 PRORP PRR12 PRRT2 PRRX1 PRTN3 PRUNE1 PSAT1 PSMB4 PSMB8 PSMB9 PSMC1 PSMC3 PSMD12 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PUF60 PURA PUS1 PUS7 PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RDH11 RECQL RECQL4 RELN RERE REV3L RFC2 RFT1 RFWD3 RFX5 RFX7 RFXANK RFXAP RHOA RHOBTB2 RIC1 RIN2 RIPK4 RIT1 RLIM RMRP RNF113A RNF125 RNF168 RNU12 RNU4ATAC ROBO1 ROR2 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RSRC1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SALL4 SASH3 SATB2 SBDS SC5D SCARF2 SCN4A SCN9A SCNM1 SCYL2 SEC23A SEC24C SEC24D SEC31A SELENON SEMA3E SEMA5A SERPINA1 SERPINH1 SETBP1 SETD2 SETD5 SF3B2 SF3B4 SFRP4 SH2B1 SH3BP2 SH3KBP1 SH3PXD2B SHANK3 SHH SHOX SIM1 SIN3A SIX1 SIX2 SIX3 SIX5 SKI SLC10A7 SLC11A1 SLC12A2 SLC12A6 SLC18A3 SLC25A1 SLC25A19 SLC25A24 SLC26A2 SLC26A9 SLC29A3 SLC2A10 SLC35A2 SLC35A3 SLC35B2 SLC35C1 SLC35D1 SLC37A4 SLC39A14 SLC39A7 SLC3A1 SLC5A7 SLC6A14 SLC6A17 SLC6A8 SLC6A9 SLC9A3 SLC9A6 SLX4 SMAD2 SMAD3 SMAD4 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMO SMOC1 SMPD4 SMS SNAP25 SNIP1 SNRPB SNRPN SOBP SON SOS1 SOS2 SOST SOX18 SOX5 SOX6 SOX9 SP7 SPAG1 SPATA5 SPATA5L1 SPECC1L SPEF2 SPEG SPEN SPI1 SPOP SPRED1 SPRED2 SPRTN SRCAP SRP54 SRPX2 SRY SSR4 STAC3 STAG1 STAG2 STAMBP STAT4 STEEP1 STK36 STK4 STRA6 STT3A STX1A STXBP2 SUFU SUPT16H SUZ12 SVIL SYT2 TAB2 TAF1 TAFAZZIN TAP1 TAP2 TAPBP TAPT1 TARS1 TASP1 TAT TBC1D20 TBC1D2B TBC1D7 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX15 TBX22 TBX4 TBXAS1 TCF3 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TERC TERT TFAP2A TFAP2B TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THOC6 THSD4 THUMPD1 TINF2 TMCO1 TMEM107 TMEM165 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF9 TNFSF11 TNNI2 TNNT3 TNPO2 TNRC6B TOE1 TONSL TOPORS TOR1A TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRIM37 TRIO TRIP11 TRIP13 TRIP4 TRMT1 TRMT10A TRPM3 TRPS1 TRRAP TSEN54 TSR2 TTC12 TTN TUBA1A TUBB TUBB3 TUBGCP2 TWIST1 TWIST2 TXNDC15 TXNL4A TYMS UBA1 UBA2 UBB UBE2A UBE2T UBE3A UBE3B UFD1 UNC119 UNC80 UPF3B USB1 VAC14 VAMP1 VANGL2 VARS1 VPS13A VPS13B VPS33B VPS35L VPS37D VPS53 WAS WASHC5 WBP11 WDR11 WDR26 WDR35 WDR4 WDR62 WDR73 WIPF1 WLS WNT3 WNT5A WNT7A WRAP53 WT1 XPA XPC XRCC2 XRCC4 YARS1 YARS2 YRDC YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZMIZ1 ZMPSTE24 ZMYND10 ZNF292 ZNF335 ZNF341 ZNF668 ZNF699 ZNHIT3 HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY AR BARD1 BRCA1 BRCA2 BRIP1 CHEK2 COX7B DCAF17 DHH FANCB HCCS HYLS1 KIF7 MRE11 NBN NDUFB11 PALB2 PLG PTEN RAD50 RAD51 RAD51C RAD51D TP53 WNT3 WNT4 WT1 HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR ABCC9 ACSL4 ADCY5 ADGRV1 ADNP AGO1 AIP ALAD ALDH4A1 ALDH5A1 ALG14 ANG ANXA11 AP1G1 APC2 AR ARID2 ARSG ARVCF ASH1L ATP1A3 ATRX ATXN2 BAZ1B BCL11B BCL7B BMPR1A BPTF BRAF BRD4 BUD23 CABP4 CACNA1A CACNA1H CASR CCND1 CCNF CDC42BPB CDH2 CDH23 CDKL5 CDKN2A CDON CEACAM3 CEACAM6 CEP78 CFAP410 CFTR CHCHD10 CHD7 CHD8 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIB2 CIC CIZ1 CLCA4 CLCN3 CLCN4 CLIP2 CLN3 CLN5 CLRN1 CLTRN COL7A1 COMT COQ2 CPOX CREBBP CRH CTNNB1 DAO DCTN1 DCTN4 DDB1 DEAF1 DENND5A DEPDC5 DISP1 DLAT DLL1 DLST DNAJC30 DNAJC6 DNMT3A DPH1 DPH2 DRD2 DUSP6 DYRK1A EDNRA EHMT1 EIF2AK1 EIF4H ELN EMC10 EP300 EPAS1 EPCAM EPHA4 ERBB4 ESPN FA2H FAN1 FGF17 FGF8 FGFR1 FH FIG4 FKBP6 FLII FLT4 FMO3 FMR1 FOXH1 FOXP1 FRMD5 FTSJ1 FUS GABBR2 GABRA1 GABRB3 GABRD GABRG2 GALT GAS1 GCH1 GCLC GLA GLE1 GLI2 GLT8D1 GM2A GNA11 GNAS GNB1 GNRH1 GNRHR GP1BB GPR101 GRIK2 GRIN2A GRN GSTM3 GTF2I GTF2IRD1 GTF2IRD2 H1-4 HARS1 HCN1 HDAC8 HECTD4 HEXB HFE HIRA HIVEP2 HLA-DQA1 HLA-DQB1 HMBS HMOX1 HNRNPA1 HNRNPH2 HS6ST1 HSPG2 HTR2A HTRA1 HTRA2 HTT IFNG IGF1R IMPDH2 IQSEC2 JMJD1C JPH3 JRK KANSL1 KCNN2 KCNN4 KCNT1 KCTD17 KIF1B KISS1 KISS1R KMT2A KMT2B KMT2E KPTN KRAS LARP7 LGI3 LIMK1 LRRK2 MAMLD1 MAN2B1 MAPK1 MAPT MATR3 MAX MBD5 MDH2 MECP2 MED12L MEN1 METTL27 MIF MIR17HG MLH1 MLH3 MLXIPL MMP1 MSH2 MSH6 MSTO1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYO7A NAGS NCF1 NDP NEFH NEK1 NEXMIF NF1 NFASC NFIB NFIX NHLH2 NIPBL NKX2-1 NODAL NONO NOTCH3 NR3C1 NR4A2 NSD1 NSD2 NSMF NTNG1 OCRL OPTN PAH PAK3 PARK7 PCDH15 PCDH19 PDE10A PDE11A PDGFB PDGFRB PDZD7 PFN1 PHF21A PHIP PIK3CA PINK1 PLCH1 PMS1 PMS2 PODXL POGZ POLG POLG2 PON1 PON2 PON3 PPARGC1A PPM1D PPOX PPP1CB PPP2R2B PQBP1 PRKAR1A PRKAR1B PRKN PRNP PROK2 PROKR2 PRPH PRR12 PSEN1 PSMD12 PTCH1 PURA RAD21 RAI1 RET RFC2 RFX7 RIMS2 RLIM RNF125 RPS20 RREB1 RRM2B SATB2 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4A SERPINA1 SETBP1 SETD1A SETD1B SETD2 SETD5 SGCE SHH SHQ1 SIN3A SIX3 SLC11A1 SLC25A11 SLC25A4 SLC26A9 SLC2A1 SLC2A3 SLC35C1 SLC45A1 SLC6A14 SLC6A19 SLC6A4 SLC7A6OS SLC9A3 SLITRK2 SMC1A SMC3 SMC5 SNCA SNRPN SOD1 SOX5 SPART SPECC1L SPRY4 SPTBN1 SQSTM1 SRCAP SRPX2 STAG2 STEEP1 STIL STUB1 STX16 STX1A STX1B SYNJ1 TAC3 TACR3 TAF1 TAF15 TANC2 TARDBP TBK1 TBL2 TBX1 TCF12 TCF20 TDGF1 TERT TET3 TGFB1 TGFBR2 TGIF1 THOC2 TLK2 TLR7 TMCO1 TMEM106B TMEM127 TMEM147 TMEM270 TOR1A TP53 TRANK1 TREM2 TREX1 TRIP12 TSC1 TSC2 TTC19 TTR TWNK UBQLN2 UCHL1 UFD1 UNC13A UQCRC1 USH1C USH1G USH2A USP48 USP8 VAPB VCP VHL VPS13A VPS13C VPS37D WAC WARS2 WDR11 WDR45 WFS1 WHRN XK YWHAG YY1 ZBTB20 ZIC2 ZNRF3 HP_ABNORMAL_FEMALE_MEIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMALE_MEIOSIS CDC20 PANX1 PATL2 TRIP13 TUBB8 WEE2 HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY AARS2 ABCD1 AGGF1 AGK AGPAT2 AIP AIRE AKT1 AKT2 ALMS1 ANAPC1 ANAPC7 ANOS1 ANTXR1 AR ARMC5 ATM ATP7B ATRX AXL B4GALNT1 BAP1 BBS9 BCOR BLM BLOC1S3 BLOC1S5 BMP15 BMP2 BMP4 BMP6 BMPR1B BNC1 BPTF BRAF BRD4 BSCL2 BTG4 C14orf39 CASP10 CAV1 CAVIN1 CCDC141 CCN2 CCR6 CDH23 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CEP164 CEP290 CHD7 CHP1 CIDEC CISD2 CLEC7A CLPP COL25A1 COQ2 CPE CTDP1 CYB5A CYP11B1 CYP17A1 CYP19A1 DCAF17 DCC DHH DHX37 DIAPH1 DIAPH2 DMRT3 DNAJC6 DNM1L DTNBP1 DUSP6 EIF2B1 EIF2B2 EIF2B3 EIF2B4 ERAL1 ERCC4 ERCC6 ERCC8 ESR1 ESR2 F10 F11 F13A1 F13B F2 F5 F7 F8 FANCM FAS FASLG FEZF1 FGA FGB FGF17 FGF8 FGFR1 FGFR3 FGG FIGLA FIP1L1 FLI1 FLRT3 FMR1 FOS FOXA2 FOXL2 FSHB FSHR FZD2 GALK1 GALT GATA3 GATA4 GDF9 GGPS1 GHR GLI2 GNAS GNRH1 GNRHR GP1BA GP1BB GP6 GP9 GPR101 GPR161 H6PD HAMP HARS2 HDAC8 HERC2 HESX1 HFE HFM1 HJV HLA-B HLA-DRB1 HMGA2 HPS4 HPS5 HS6ST1 HSD17B4 HSF2BP HTRA2 IGF2 IKZF1 IL17F IL17RA IL17RC IL17RD INVS IQCB1 IRF2BP2 IRF5 ITGA2B ITGA8 ITGB3 KISS1 KISS1R KPNA7 LARS2 LEP LEPR LHB LHX4 LIG4 LIPE LMAN1 LMNA LRRK2 MAGEL2 MAP3K1 MCFD2 MCM3AP MCM8 MCM9 MEN1 MKRN3 MOS MRPS22 MSH4 MSH5 MSTO1 MYH9 NABP1 NBEAL2 NBN NDN NDNF NF2 NHLH2 NIN NIPBL NOBOX NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NR0B1 NR3C1 NR5A1 NSMF NUMA1 NUP107 OCA2 OTX2 PAPSS2 PARK7 PCSK1 PDE4D PDGFB PEX1 PEX10 PEX6 PHKA2 PHKB PHKG2 PIK3CA PINK1 PLAG1 PLAU PLIN1 PML PMM2 PODXL POF1B POLG POLG2 POLR3H POR POU1F1 PPARG PRKACG PRKAR1A PRKCD PRKN PRLR PROK2 PROKR2 PROP1 PRORP PSMB8 PSMC3IP PSMD12 PTPN11 PWAR1 PWRN1 RAD21 RARA RASGRP1 RASGRP2 RCBTB1 RIN2 RNF216 ROBO1 RTN2 SDCCAG8 SEMA3A SEMA3E SERPINE1 SETD2 SIM1 SLC25A13 SLC29A3 SLC37A4 SLFN14 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SNCA SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOST SOX10 SOX3 SOX9 SPIDR SPRY4 SRA1 SRY STAG3 STAT3 STAT5B STUB1 SUFU SYCE1 SYNJ1 TAC3 TACR3 TBL1X TBL1XR1 TERT TFR2 THOC6 TKT TP53 TP63 TPR TRAF3IP1 TRAF3IP2 TRAF7 TRIP13 TRMT10A TTI2 TWNK UBAP1 UCHL1 USP48 USP8 VAMP7 VPS13C VWF WAS WDR11 WDR19 WIPF1 WNT4 WNT7A WRN WT1 WWOX XRCC2 YARS1 ZBTB16 ZFHX4 ZFPM2 ZMPSTE24 ZSWIM7 HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY ACAN ADAMTS2 ADAMTSL2 AIFM1 ATP7A B3GALT6 BRF1 CANT1 CCN6 CDC6 CHST3 COG1 COL10A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COMP CREBBP CSPP1 DNAJC21 DUOX2 DUOXA2 DVL1 DVL3 DYM EFL1 EP300 EXT1 EXTL3 FN1 FZD2 GLB1 GNPTG HDAC4 HESX1 HS2ST1 HSPA9 IARS2 IDUA IFNGR1 IFT140 IHH INPP5K IYD KIAA0586 KIF22 LHX3 LHX4 MATN3 MTX2 NEK9 PCNT PEX5 PIK3C2A PLOD3 POP1 POU1F1 PRG4 PROP1 RAB33B RAB3GAP2 RAD21 RET RINT1 RNU4ATAC RSPRY1 SBDS SIL1 SKIC3 SLC26A2 SLC2A10 SLC39A13 SLC5A5 SMARCAL1 SRCAP SRP54 TBX15 TBX4 TG TINF2 TONSL TPO TRAF3IP1 TRAPPC2 TREX1 TRPS1 TRPV4 TSHB TSHR UFSP2 UNC45A WNT5A HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY ABCC9 ACAN ACVR1 ADAMTS2 ADAMTSL2 AFF3 AIFM1 ARCN1 ARID1B ARSL ATP6V0A2 ATP7A ATRX B3GALT6 B4GALT7 BCR BGN BMPR1B BRF1 CANT1 CBFB CCDC47 CCN6 CDC6 CFAP410 CHD4 CHST3 COG1 COG4 COG8 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL27A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREBBP CRKL CRTAP CSGALNACT1 CSPP1 CTC1 DDRGK1 DLK1 DMP1 DNAJC21 DUOX2 DUOXA2 DVL1 DVL3 DYM EED EFL1 EIF2AK3 ENPP1 EP300 ERCC6 EXOC6B EXT1 EXT2 EXTL3 EZH2 FGFR3 FKBP10 FLNA FLNB FN1 FUCA1 FZD2 GALNS GJB2 GJB6 GLB1 GLI3 GNPTAB GNPTG GTF2E2 HDAC4 HESX1 HNRNPH1 HNRNPK HNRNPR HS2ST1 HSPA9 HSPG2 IARS2 IDUA IFIH1 IFNGR1 IFT140 IHH INPP5K IYD KCNJ8 KDELR2 KIAA0586 KIF22 LBR LHX3 LHX4 LMNA LMX1B LRP5 LYSET MAN2B1 MAPK1 MATN3 MBTPS1 MEG3 MEGF8 MGAT2 MMP13 MMP9 MTX2 NANS NEK9 NFIX NGLY1 NKX3-2 NRCAM ORC1 ORC6 OTUD5 PCNT PCYT1A PDE4D PEX5 PIK3C2A PLOD3 POC1A POP1 POU1F1 PRG4 PROP1 PTH1R RAB23 RAB33B RAB3GAP2 RAD21 RBM8A RET RINT1 RMRP RNU4ATAC RPL13 RPS6KA3 RSPRY1 RTL1 RUNX2 SBDS SERPINF1 SHOX SIL1 SKIC3 SLC10A7 SLC12A2 SLC26A2 SLC2A10 SLC35A2 SLC35B2 SLC39A13 SLC5A5 SMARCAL1 SRCAP SRP54 STXBP1 TBX15 TBX4 TCIRG1 TG TGFB1 TGFB3 TINF2 TMEM53 TMEM67 TONSL TPO TRAF3IP1 TRAPPC2 TREX1 TRIP11 TRPS1 TRPV4 TSHB TSHR UBE3C UFC1 UFSP2 UNC45A WNT5A XYLT1 ZMPSTE24 HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY ABCC9 ACVR1 ADAMTS2 ADAMTSL2 AFF3 AIFM1 ARCN1 ARID1B ATP6V0A2 ATP7A ATRX B3GALT6 B4GALT7 BCR BGN BMPR1B CANT1 CBFB CCDC47 CCN6 CFAP410 CHD4 CHST3 COG1 COG4 COG8 COL10A1 COL11A1 COL1A1 COL1A2 COL27A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CRKL CRTAP CSGALNACT1 CTC1 DDRGK1 DLK1 DMP1 DNAJC21 DVL1 DVL3 DYM EED EIF2AK3 ENPP1 ERCC6 EXOC6B EXT1 EXT2 EXTL3 EZH2 FGFR3 FKBP10 FLNA FLNB FN1 FUCA1 FZD2 GALNS GJB2 GJB6 GLB1 GLI3 GNPTAB GTF2E2 HNRNPH1 HNRNPK HNRNPR HSPG2 IDUA IFIH1 IFT140 IHH INPP5K KCNJ8 KDELR2 KIF22 LBR LMNA LMX1B LYSET MAN2B1 MAPK1 MATN3 MBTPS1 MEG3 MEGF8 MGAT2 MMP13 MMP9 MTX2 NANS NFIX NGLY1 NKX3-2 NRCAM ORC1 ORC6 OTUD5 PCNT PCYT1A PDE4D PEX5 PIK3C2A POC1A POP1 PRG4 PTH1R RAB23 RAB33B RAB3GAP2 RAD21 RBM8A RMRP RNU4ATAC RPL13 RPS6KA3 RSPRY1 RTL1 RUNX2 SBDS SERPINF1 SHOX SIL1 SLC10A7 SLC12A2 SLC26A2 SLC2A10 SLC35A2 SLC35B2 SLC39A13 SRP54 STXBP1 TBX4 TCIRG1 TGFB1 TGFB3 TMEM53 TMEM67 TONSL TRAPPC2 TRIP11 TRPV4 UBE3C UFC1 UFSP2 WNT5A XYLT1 ZMPSTE24 HP_ABNORMAL_FEMORAL_TORSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_TORSION ACTB CRTAP FIBP KIFBP MADD P3H1 PI4KA SLC26A2 HP_ABNORMAL_FETAL_CARDIOVASCULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_CARDIOVASCULAR_MORPHOLOGY CACNA1C CCDC22 CRB2 DDX6 DPF2 DPYSL5 FANCB FANCF FAT4 FOXF1 GATA6 GNB2 HNRNPK HOXD13 HSPG2 LARS2 MCTP2 MDFIC MKS1 MYH7 NRAS PACS1 PAK2 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY POR QRICH1 RAC1 RHD RYR3 SCARF2 SLC30A9 SPECC1L STAG1 TAPT1 THSD1 TLK2 TRAF7 TWIST2 VPS35L WASHC5 WNT3 WT1 ZNF699 HP_ABNORMAL_FETAL_CENTRAL_NERVOUS_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_CENTRAL_NERVOUS_SYSTEM_MORPHOLOGY ASXL2 CDC42BPB DHPS DPYSL5 MRPS16 HP_ABNORMAL_FETAL_GASTROINTESTINAL_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_GASTROINTESTINAL_SYSTEM_MORPHOLOGY ADGRG6 EIF5A FANCB GATA1 GNB2 HSD17B4 KIF26A KMT2D LBR MDFIC NPC1 NPC2 NUP88 PIGY PTH1R RHD TRIP11 ZBTB42 ZIC3 ZNF699 HP_ABNORMAL_FETAL_GENITOURINARY_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_GENITOURINARY_SYSTEM_MORPHOLOGY B9D1 BNC2 CDC42BPB CLCN3 FGF13 FH GRIP1 KANSL1 MYL9 PI4KA PIGA TBCK ZBTB18 HP_ABNORMAL_FETAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_MORPHOLOGY ABCC6 ADA ADA2 ADAMTS3 ADARB1 ADGRG6 AGGF1 AHCY ALG1 ALG8 ALG9 ALPK3 ARSL ASAH1 ASXL2 ATN1 ATP6V1B2 B9D1 BAZ1B BCL7B BMPER BNC2 BRD4 BSND BUB1 BUB1B BUB3 BUD23 CACNA1C CALCRL CARS2 CASP10 CBL CCBE1 CCDC22 CDAN1 CDC42BPB CEP57 CHD7 CHMP2B CHRNG CLCN3 CLIP2 COL11A1 COL1A1 COL1A2 COL2A1 CRB2 CRLS1 CSGALNACT1 CTSA DCLRE1C DDX6 DHCR7 DHPS DNAJC30 DOHH DPF2 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP EFNB1 EIF4H EIF5A ELN ENPP1 EPB41 EPHB4 FANCB FANCF FAS FASLG FAT4 FGF13 FGFR3 FH FIG4 FKBP6 FLNB FLT4 FOXC2 FOXF1 GATA1 GATA6 GATB GATC GBA1 GBE1 GLB1 GNB2 GPC6 GRIP1 GRN GTF2I GTF2IRD1 GTF2IRD2 GUSB GYPC HADHA HBA1 HBA2 HDAC8 HEATR3 HLCS HNRNPK HOXD13 HRAS HSD17B4 HSPG2 IFT80 IL2RG IL7R KANSL1 KIAA0586 KIF20A KIF26A KLF1 KMT2D KRAS LAMA5 LARS2 LBR LIG4 LIMK1 LRPPRC LZTR1 MAPT MCM10 MCTP2 MDFIC MECOM METTL27 MGAT2 MKS1 MLXIPL MMACHC MRAS MRPS16 MRPS22 MUSK MYH7 MYL11 MYL9 NCF1 NDUFB10 NEK1 NEK9 NEU1 NIPBL NPC1 NPC2 NR1H4 NRAS NSF NUP88 ODC1 PACS1 PAK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PI4KA PIEZO1 PIGA PIGL PIGN PIGO PIGV PIGW PIGY PKLR PLD1 PMM2 POR PPP3CA PRKCD PSAT1 PSEN1 PTH1R PTPN11 QRICH1 QRSL1 RAC1 RAD21 RAF1 RAG1 RAG2 RASA1 RASA2 RASGRP1 RFC2 RHD RIT1 RMRP RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RYR1 RYR3 SCARF2 SCN4A SCN5A SLC17A5 SLC26A2 SLC27A4 SLC30A9 SLC31A1 SLC35A2 SLC35D1 SMC1A SMC3 SOS1 SOS2 SOX18 SPECC1L SPRED2 SPTA1 SPTB SQSTM1 STAG1 STX1A TALDO1 TAPT1 TBC1D24 TBCK TBL2 TCF4 TGM1 THSD1 TLK2 TMEM106B TMEM270 TRAF7 TREM2 TRIM37 TRIP11 TRIP13 TSR2 TTC7A TWIST2 TXNDC15 UROD UROS VAC14 VCP VPS35L VPS37D WASHC5 WDR35 WNT3 WNT4 WNT7A WT1 ZBTB18 ZBTB42 ZIC3 ZNF699 HP_ABNORMAL_FETAL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_PHYSIOLOGY AARS1 ABCB4 ABCC6 ABCD4 ACTA1 ACTL6B ADCY6 ADGRG6 AFF2 AGRN ALDH7A1 ALG14 ALG8 ALG9 AP1S2 AP3B2 ARV1 ASCC1 ASCL1 ASNS ATAD3A ATP1A2 ATP1A3 ATP6V1A ATP8B1 B3GLCT BICD2 BIN1 BRD4 BUB1 CACNA1A CACNA1B CACNA2D1 CAMK2B CAMKMT CCDC174 CCDC47 CDC42BPB CDK19 CELF2 CHAT CHRNA1 CHRND CHRNE CHRNG CHUK CLPB CLTC CNKSR2 CNTN1 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COX11 COX15 CPLX1 CPSF3 CRPPA CTBP1 CTCF CYFIP2 DALRD3 DEAF1 DHCR7 DHDDS DMPK DNA2 DNM1 DNM1L DNM2 DNMT3A DOCK6 DOK7 DPAGT1 DPH5 DPYSL5 EBF3 EEF1A2 EMC10 ENPP1 ERBB3 ERCC5 ERGIC1 EXOSC9 FBXO28 FGF12 FGF13 FGFR3 FGFRL1 FKBP14 FLII FOXRED1 FXR1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GBA1 GBE1 GFPT1 GGPS1 GLDN GLE1 GLRB GMPPB GNB2 GOSR2 GPKOW GRIN2D H19 H4C3 HACD1 HCN1 HDAC8 HERC2 HSPG2 IGF2 IGHMBP2 IKZF1 IL1RN IL2RB IPO8 IQSEC2 ITGA7 KBTBD13 KCNA2 KCNB1 KCNQ5 KIF21A KIF5C KLHL40 KLHL41 LETM1 LGI4 LMNA LMOD3 LRPPRC MAGEL2 MAP3K20 MAP3K7 MEGF10 MKRN3 MPZ MT-ND1 MT-ND2 MT-ND3 MTM1 MTMR14 MUSK MYCN MYF6 MYH3 MYL1 MYL2 MYMK MYO9A MYOD1 MYPN NAA10 NAA20 NALCN NDN NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEK9 NELFA NEXMIF NFASC NIPBL NPAP1 NSD1 NSD2 NTRK2 NUBPL NUP188 NUP88 NUS1 OCA2 ODC1 OSTM1 PACS2 PARS2 PAX7 PEX19 PEX2 PEX3 PGAP2 PHGDH PHOX2B PIGA PIGG PIGS PLOD1 PLPBP POLR2A PPM1B PPP3CA PREPL PRUNE1 PSAT1 PTRH2 PWAR1 PWRN1 RAD21 RAI1 RAPSN RET RIPK4 RPL11 RYR1 SCN3A SCN4A SCN8A SCYL2 SELENON SHQ1 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A26 SLC2A1 SLC38A3 SLC3A1 SLC5A7 SLC6A9 SMC1A SMC3 SMN1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SON SOX10 SPEN SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TBCK TIMMDC1 TMCO1 TMEM126B TNNC2 TOR1A TPM2 TPM3 TRAIP TRAK1 TRIP4 TRPV4 TSFM TTC26 TUBA1A UBA1 UBA5 UNC45B UQCRFS1 USP18 USP7 VAMP1 VPS13B WDR62 WWOX YWHAG ZBTB42 ZC4H2 ZMPSTE24 HP_ABNORMAL_FETAL_PULMONARY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_PULMONARY_MORPHOLOGY CRLS1 MDFIC NUP88 PI4KA RHD THSD1 TTC7A WNT4 HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY ADA CHD7 DCLRE1C GBA1 HLCS IL2RG IL7R LIG4 MRPS22 RAG1 RAG2 RMRP SLC27A4 TGM1 TWIST2 HP_ABNORMAL_FIFTH_TOE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FIFTH_TOE_MORPHOLOGY ALG3 ARID1B ARL6 B9D1 B9D2 BBS1 BBS12 BBS2 BBS9 BMP4 C2CD3 CC2D2A CCDC28B CD96 CEP120 CEP290 CHSY1 CIBAR1 CKAP2L CSPP1 DDX59 DHCR7 DLEC1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EXTL3 FRA10AC1 FREM1 GLI3 HEPHL1 HOXD13 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E IQCE KCNJ2 KCNJ5 KCNN3 KIAA0753 KIAA0825 KIF7 LBR LMBR1 LZTFL1 MAP3K20 MKKS MKS1 NEK1 NOG NPHP3 OTUD5 PDE6D PIGH PLAA PPP1R15B PRKACB RAB3GAP2 RNF6 RPGRIP1 RPGRIP1L SALL1 SC5D SCNM1 SETD5 SMARCA4 SMO SMOC1 SUFU TCTN1 TCTN2 TCTN3 TGFBR2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRMT10A TTC21B TXNDC15 WDR19 WWOX ZNF141 HP_ABNORMAL_FINGERNAIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY AARS1 AFF4 AIP AIRE ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BMPER BMPR1B BRAF BUD23 CARS1 CASR CCDC22 CDH3 CDKN1C CENPT CLEC7A CLIP2 COL11A1 COL11A2 COL17A1 COL7A1 CSTB CTC1 CTSC DKC1 DLL4 DNAJC30 DOCK6 DPF2 DPYSL5 DVL1 DVL3 DYNC2LI1 EDAR EDARADD EED EFNB1 EIF4H ELN EOGT ERCC2 ERCC3 EVC EVC2 EZH2 FBXO28 FGFR2 FKBP6 FZD2 GDF5 GJA1 GLI1 GNA11 GPR101 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HLA-B HMGA2 HPGD HRAS HYMAI IFT122 IFT43 IFT52 IGF2 IKBKG IL11RA IL17F IL17RA IL17RC IL6ST INPPL1 ITGB4 KCNH1 KCNMA1 KCNN3 KCTD1 KDF1 KIF1A KRAS KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT9 LIG4 LIMK1 LMNA LMX1B LRP4 MACROH2A1 MAP2K1 MAP2K2 MBTPS2 METTL27 MLXIPL MPLKIP MSX1 NCF1 NECTIN1 NHP2 NOP10 NOTCH1 NOTCH2 NPM1 NSD1 NSUN2 NXN PARN PAX9 PEPD PERP PEX1 PEX6 PGAP2 PIGF PIGN PIGO PITX1 PKP1 PLAG1 PLAGL1 PLCD1 PLEC POFUT1 POGLUT1 PPP1CB PRKACA PRKACB PSENEN PTDSS1 RBPJ RETREG1 RFC2 RNF113A RNU12 ROR2 RPS6KA3 RTEL1 RUNX2 SCN9A SF3B1 SHOC2 SHOX SLC35D1 SLC39A4 SLCO2A1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOST SOX11 SOX4 STAT3 STX1A SUZ12 TARS1 TBC1D24 TBL2 TBX3 TERC TERT TET2 TFAP2A TINF2 TMEM270 TP63 TRAF3IP2 TRAF6 TRPV3 TWIST2 TYMS USB1 VPS35L VPS37D WASHC5 WDR19 WDR35 WNK1 WNT10A WNT5A WRAP53 ZBTB20 ZMPSTE24 ZNF462 HP_ABNORMAL_FINGERTIP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERTIP_MORPHOLOGY ABCA3 ADNP ARID1B ATN1 ATP11A BCOR BMPR1A CCDC22 CD55 CFTR CHD1 CREBBP CTCF DEAF1 DHX30 DPP9 DSP EIF2AK4 EMC1 EP300 EZH2 FAM13A FCGR2A FOXP1 FOXP2 GJA5 GJA8 GJB6 H3-3B H4C5 HNRNPH1 HNRNPH2 HPGD HSPG2 IL21 INTU JAG1 JARID2 KANSL1 KDM6A KMT2D KPTN LAMA3 LAMB3 LAMC2 LRBA MAP1B MED12 MED12L MUC5B NAA10 NCKAP1L NFIX NLRP3 NR2F1 NXN PAK3 PARN PKDCC PRR12 PSMB8 PTEN PTH1R RAB3GAP2 RASGRP1 RPS23 RTEL1 RUSC2 SFTPA1 SFTPA2 SFTPC SLC34A2 SLC5A6 SLCO2A1 SRCAP STK11 STN1 TBL1XR1 TCF4 TERC TERT TGFB1 TLL1 WAC ZMPSTE24 ZNF292 ZNF407 HP_ABNORMAL_FINGER_FLEXION_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_FLEXION_CREASE ATR CHST11 COL1A2 GDF5 HOXD13 IHH LMX1B MASP1 MET MYH3 NOG PIEZO2 RBBP8 ROR2 TBX15 TLK2 TNNI2 TPM2 WNT7A HP_ABNORMAL_FINGER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_MORPHOLOGY ABCA12 ABCA3 ABCC8 ABCC9 ABCD1 ABL1 ACAN ACOX1 ACP5 ACSL4 ACTA1 ACTA2 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAT3 ADGRG6 ADH5 ADNP AEBP1 AFF2 AGO2 AHI1 AIFM1 AIP AKT1 AKT3 ALDH18A1 ALDH1A2 ALG12 ALG13 ALG14 ALG3 ALG6 ALG9 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC1 ANKLE2 ANKRD11 ANO5 ANTXR2 AP1G1 AP4M1 APC APC2 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARPC4 ARSL ARVCF ARX ASAH1 ASPH ASPN ASXL1 ASXL3 ATAD1 ATG7 ATL3 ATN1 ATP11A ATP13A2 ATP2B1 ATP6V1B2 ATP7A ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCORL1 BCR BGN BHLHA9 BICD2 BICRA BIN1 BLM BLTP1 BMP1 BMP15 BMP2 BMP4 BMPR1A BMPR1B BNC1 BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C1R C2CD3 CANT1 CAPN3 CASK CASZ1 CBFB CBL CBS CBY1 CC2D2A CCBE1 CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCDC88A CCN6 CCND2 CCNK CCNQ CD244 CD55 CD96 CDC42 CDC42BPB CDC45 CDC6 CDH11 CDKL5 CDKN1C CDT1 CENPE CENPJ CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CFAP418 CFTR CHD1 CHD4 CHD7 CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST11 CHST14 CHST3 CHSY1 CHUK CIBAR1 CIC CIITA CILK1 CITED2 CKAP2L CLCF1 CLCN3 CLCN7 CLIC2 CLIP2 CLP1 CNOT1 CNOT2 CNOT3 CNTN1 COASY COG1 COG4 COG5 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COMP COMT COPB1 COX4I1 CPLANE1 CPLX1 CPT2 CREBBP CRIPT CRKL CRLF1 CRPPA CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CTSC CTSK CTU2 CUL3 CUL4B CUL7 CWC27 CWF19L1 CYP26B1 CYP27A1 DACT1 DDR2 DDX11 DDX59 DDX6 DEAF1 DHCR7 DHODH DHPS DHX30 DLG4 DLK1 DLL3 DLL4 DLX3 DLX5 DMXL2 DNA2 DNAJC21 DNAJC30 DNM1L DNMT3A DOCK3 DOCK6 DOK7 DONSON DPAGT1 DPF2 DPH2 DPH5 DPP9 DPYS DPYSL5 DSE DSP DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A EBF3 EBP ECE1 ECEL1 EDA EDA2R EDN3 EDNRB EED EFEMP2 EFL1 EFNB1 EFTUD2 EHMT1 EIF2AK3 EIF2AK4 EIF2S3 EIF4A3 EIF4H ELN EMC1 EMG1 EN1 EOGT EP300 EPB41L1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 EVC EVC2 EXOC6B EXOSC2 EXOSC5 EXOSC9 EXT1 EXT2 EXTL3 EZH2 FAM13A FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FAT4 FBLN5 FBN1 FBN2 FBXO11 FBXO28 FBXW11 FCGR2A FERMT1 FGD1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP6 FKTN FLI1 FLII FLNA FLNB FLT4 FLVCR1 FN1 FOXE3 FOXP1 FOXP2 FRA10AC1 FRAS1 FSHR FTO FTSJ1 FZD2 G6PC3 GABRA3 GABRD GATA1 GATA2 GATA4 GATA5 GATA6 GATAD2B GDAP1 GDF1 GDF5 GDNF GGCX GJA1 GJA5 GJA8 GJB3 GJB4 GJB6 GLDN GLI1 GLI2 GLI3 GMNN GNAI1 GNAO1 GNAS GNB1 GNB2 GNPTAB GON7 GORAB GP1BB GPC3 GPC4 GPKOW GPR101 GPX4 GRB10 GRIN1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 H19 H3-3A H3-3B H4C3 H4C5 H4C9 HACD1 HDAC4 HDAC8 HEATR3 HECTD4 HEPACAM HERC1 HERC2 HES7 HESX1 HEY2 HHAT HIC1 HINT1 HIRA HIVEP2 HMGA2 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HPGD HRAS HS2ST1 HSPG2 HUWE1 HYAL1 HYLS1 HYOU1 IARS1 IARS2 IDH1 IDS IDUA IFIH1 IFITM5 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGF1 IGF1R IGF2 IGHMBP2 IHH IKBKG IL10 IL11RA IL21 IL6ST INPP5E INPP5K INPPL1 INTU IPO8 IQCE IQSEC2 IRX5 ITGA7 JAG1 JARID2 JMJD1C JUP KANSL1 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ8 KCNK4 KCNK9 KCNN3 KCTD1 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KDR KDSR KIAA0586 KIAA0753 KIAA0825 KIF15 KIF1A KIF21A KIF22 KIF7 KIFBP KLF13 KLHL40 KLHL41 KMT2A KMT2B KMT2C KMT2D KMT2E KNSTRN KPTN KRAS KRT1 KRT14 KRT16 KRT9 L1CAM LAGE3 LAMA3 LAMA5 LAMB3 LAMC2 LARS1 LAS1L LBR LEMD3 LETM1 LFNG LHX3 LHX4 LIFR LIG4 LIMK1 LMBR1 LMNA LMNB2 LMOD3 LMX1B LONP1 LOX LRBA LRP4 LTBP1 LTBP2 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2C1 MAP1B MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MAT2A MATN3 MBD5 MBTPS2 MCTP2 MECOM MECP2 MED12 MED12L MED25 MEF2C MEG3 MEGF10 MEGF8 MEIS2 MESP2 MET METTL27 MFAP5 MGAT2 MGP MIA3 MIR17HG MITF MKKS MKRN3 MKS1 MLXIPL MMP2 MMP23B MOGS MORC2 MRAS MRPS22 MRPS28 MSH4 MSL3 MSX2 MTHFS MTM1 MTOR MTX2 MUC5B MUSK MYBPC1 MYCN MYH11 MYH3 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYOD1 NAA10 NAA20 NALCN NARS1 NARS2 NCF1 NCKAP1L NDE1 NEB NEDD4L NEFL NEK1 NEK9 NELFA NEPRO NEUROD2 NEXMIF NFASC NFIX NFKBIL1 NGLY1 NHS NIN NIPBL NKAP NKX2-5 NKX2-6 NKX3-2 NLRP1 NLRP3 NOD2 NOG NONO NOTCH1 NOTCH2 NPAP1 NPHP1 NPR2 NPR3 NR2F1 NR5A1 NRAS NRTN NSD1 NSD2 NSDHL NSUN2 NUP107 NUP133 NUP37 NUP85 NUP88 NXN OBSL1 OCRL ODC1 OFD1 OGT OPA3 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B P4HTM PACS1 PACS2 PAFAH1B1 PAH PAICS PAK3 PALB2 PAPPA2 PARN PAX1 PAX3 PCDHGC4 PCGF2 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PEPD PEX1 PEX5 PEX6 PGAP2 PGAP3 PHF21A PHF6 PHF8 PHGDH PHIP PHOX2A PI4KA PIBF1 PIEZO2 PIGA PIGB PIGF PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PKDCC PLAA PLAG1 PLK4 PLOD1 PLOD3 PLXND1 PMM2 PNKP PNPLA6 POC1A POGZ POLA1 POLR3A POLR3GL POLR3H POR PORCN POU1F1 PPP1R15B PPP1R21 PPP2R1A PPP2R3C PQBP1 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKD1 PRKDC PRKG1 PRKG2 PRMT7 PROKR2 PROP1 PRR12 PSMB4 PSMB8 PSMB9 PSMC3IP PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN22 PTRH2 PUF60 PUM1 PWAR1 PWRN1 PYCR2 PYROXD1 QRICH1 RAB11B RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RASGRP1 RB1 RBBP8 RBM10 RBM8A RBPJ RECQL RECQL4 RELN RERE RET RETREG1 REV3L RFC2 RFT1 RFWD3 RFX7 RIGI RIPK4 RIPPLY2 RIT1 RLIM RMRP RNF13 RNF216 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SACS SALL1 SALL4 SAMD9 SATB2 SBDS SC5D SCAPER SCARF2 SCLT1 SCN1B SCN2A SCN4A SCN9A SCNM1 SDCCAG8 SEC24C SELENON SEMA3C SEMA3D SEMA3E SETBP1 SETD1B SETD2 SETD5 SF3B2 SF3B4 SFTPA1 SFTPA2 SFTPC SH2B1 SH3PXD2B SHANK3 SHH SHMT2 SHOX SIAH1 SIK1 SIK3 SIL1 SIM1 SIN3A SKI SLC12A6 SLC18A3 SLC22A4 SLC25A12 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC32A1 SLC34A2 SLC35A2 SLC35A3 SLC35B2 SLC39A13 SLC5A6 SLC9A6 SLC9A7 SLCO2A1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SMPD4 SMS SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOS1 SOS2 SOST SOX11 SOX4 SOX5 SOX6 SOX9 SP7 SPART SPECC1L SPEG SPEN SPIDR SPOP SPRED1 SPRED2 SPTBN1 SRCAP SREBF1 SRP54 STAG1 STAG2 STAMBP STK11 STN1 STUB1 STX1A SUFU SUMF1 SUPT16H SUZ12 SVBP SVIL SYNE1 TAPT1 TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX5 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TDO2 TELO2 TERC TERT TFAP2A TFAP2B TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLK2 TLL1 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMEM94 TNNI2 TNNT3 TOGARAM1 TONSL TOPORS TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPR TPRKB TRAIP TRAPPC2 TRAPPC9 TRIM32 TRIM8 TRIO TRIP11 TRIP13 TRMT10A TRPM3 TRPS1 TRPV4 TRRAP TSR2 TTC21B TTC26 TTC8 TTN TUBA1A TUBB TUBB2B TUBB3 TWIST1 TWIST2 TXNDC15 UBA1 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 UFD1 UNC80 UPF3B USP7 USP9X VAC14 VPS13B VPS35L VPS37D WAC WASF1 WASHC5 WDPCP WDR11 WDR19 WDR35 WDR4 WDR73 WFS1 WIPI2 WLS WNK1 WNT10B WNT5A WNT7A XRCC2 XRCC4 XYLT1 XYLT2 YRDC YWHAE YY1 YY1AP1 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF141 ZNF292 ZNF407 ZNF423 ZNF462 ZNF469 ZNF668 ZNF699 ZNHIT3 ZSWIM7 HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY ABCA12 ABCC9 ACAN ACOX1 ACP5 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL2 ADAT3 ADNP AEBP1 AHI1 AKT3 ALG6 ALX1 ALX3 ALX4 AMMECR1 ANAPC1 ANTXR2 APC2 ARHGAP31 ARID1A ARID1B ARL13B ARL3 ARL6 ARMC9 ARPC4 ARSL ARVCF ASAH1 ASPN ASXL3 ATL3 ATP6V1B2 ATR B3GALT6 B3GAT3 B4GALT7 B9D1 B9D2 BANF1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCR BGN BHLHA9 BICRA BLM BMP2 BMP4 BMPR1A BMPR1B BPTF BRD4 BRF1 C2CD3 CANT1 CAPN3 CASZ1 CBFB CBY1 CC2D2A CCBE1 CCDC22 CCDC28B CCN6 CCND2 CD244 CD96 CDC45 CDC6 CDH11 CDKL5 CDT1 CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CFAP418 CFTR CHD7 CHN1 CHRNG CHST11 CHST3 CHSY1 CHUK CIBAR1 CIITA CLCF1 CLCN7 CNOT1 COG4 COG5 COL10A1 COL11A1 COL11A2 COL12A1 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COMP COMT CPLANE1 CPLX1 CREBBP CRIPT CRKL CRLF1 CSGALNACT1 CSPP1 CTBP1 CTDP1 CTSC CTSK CUL4B CWC27 DACT1 DDR2 DDX59 DEAF1 DHCR7 DHODH DHX30 DLK1 DLL3 DLL4 DNM1L DNMT3A DOCK6 DOK7 DPYS DPYSL5 DSP DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EDA EDA2R EED EFNB1 EFTUD2 EIF2AK3 EIF4A3 EMG1 EOGT EP300 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 ESCO2 EVC EVC2 EXOSC2 EXT1 EXTL3 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCI FAT4 FBN1 FBN2 FBXO28 FERMT1 FGD1 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKTN FLI1 FLII FLNA FLNB FN1 FRAS1 FTO FTSJ1 FZD2 G6PC3 GABRD GATA1 GATA4 GATAD2B GDAP1 GDF5 GGCX GJA1 GJA5 GJA8 GLI1 GLI2 GLI3 GMNN GNAS GNB2 GNPTAB GON7 GP1BB GPC3 GPC4 GPKOW GPX4 H3-3A H3-3B H4C9 HDAC4 HDAC8 HEATR3 HEPACAM HES7 HESX1 HHAT HINT1 HIRA HNRNPR HOXA13 HOXD13 HPGD HS2ST1 HSPG2 HYLS1 IARS1 IDH1 IDS IDUA IFIH1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGF2 IGHMBP2 IHH IKBKG IL10 IL11RA IL6ST INPP5E INPPL1 INTU IPO8 IQCE IQSEC2 JAG1 JMJD1C KAT6A KAT6B KATNIP KCNAB2 KCNH1 KCNJ2 KCNJ8 KCNK9 KCNN3 KCTD1 KDM5B KDM5C KDM6A KIAA0586 KIAA0753 KIAA0825 KIF15 KIF1A KIF21A KIF22 KIF7 KMT2A KMT2D KNSTRN KRT14 L1CAM LAGE3 LAMA5 LAMB3 LBR LEMD3 LETM1 LFNG LHX3 LHX4 LIFR LIG4 LMBR1 LMNA LONP1 LRP4 LUZP1 LZTFL1 MACROH2A1 MAFB MAN2C1 MAP3K20 MAP3K7 MAPK1 MATN3 MBD5 MBTPS2 MCTP2 MECOM MED12 MED25 MEG3 MEGF10 MEGF8 MEIS2 MESP2 MGP MIA3 MIR17HG MKKS MKS1 MMP2 MMP23B MORC2 MRPS28 MSX2 MTOR MTX2 MUSK MYBPC1 MYCN MYH3 MYH8 MYL11 MYOD1 NAA10 NALCN NEDD4L NEK1 NELFA NEPRO NFIX NFKBIL1 NGLY1 NHS NIN NIPBL NLRP3 NOD2 NOG NONO NOTCH1 NOTCH2 NPHP1 NPR2 NPR3 NSD1 NSD2 NSDHL NSUN2 NUP107 NUP133 NUP88 NXN OCRL OFD1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B PACS1 PAH PAX3 PCDHGC4 PCGF2 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PEX1 PEX6 PGAP2 PGAP3 PHF6 PHF8 PIBF1 PIEZO2 PIGB PIGF PIGG PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3CA PIK3CD PIK3R2 PITX1 PLAA PLOD3 PNPLA6 POC1A POGZ POLA1 POLR3A POLR3GL POR PORCN POU1F1 PPP2R3C PQBP1 PRDM16 PRG4 PRKACA PRKACB PRKAR1A PRKCZ PRKD1 PRKG2 PRMT7 PROP1 PSMB8 PSMD12 PTCH1 PTDSS1 PTEN PTH1R PTHLH PTPN22 PUF60 PYCR2 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAD21 RAI1 RAPSN RBBP8 RBM10 RBM8A RBPJ RECQL4 RERE RETREG1 RIGI RIPK4 RIPPLY2 RLIM RMRP RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RTL1 RTTN RUNX2 SALL1 SALL4 SATB2 SC5D SCAPER SCARF2 SCLT1 SCN4A SCN9A SCNM1 SDCCAG8 SEC24C SETBP1 SETD2 SETD5 SF3B2 SH2B1 SH3PXD2B SHH SHMT2 SIAH1 SKI SLC18A3 SLC22A4 SLC25A24 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SMAD3 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SNIP1 SOST SOX11 SOX9 SPEN SPTBN1 SRCAP STAMBP SUFU SUMF1 SUZ12 TBC1D24 TBC1D2B TBR1 TBX1 TBX2 TBX3 TBX5 TCTN1 TCTN2 TCTN3 TDO2 TFAP2A TFAP2B TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TMEM70 TNNI2 TNNT3 TOGARAM1 TONSL TOPORS TOR1AIP1 TP53RK TP63 TPM2 TPRKB TRAPPC2 TRIM32 TRIO TRIP11 TRPM3 TRPS1 TRPV4 TSR2 TTC21B TTC26 TTC8 TUBA1A TUBB3 TWIST1 TWIST2 TXNDC15 UBE2T UBE4B UFD1 UNC80 UPF3B USP9X VAC14 VPS35L WASHC5 WDPCP WDR19 WDR35 WDR4 WDR73 WFS1 WLS WNK1 WNT5A WNT7A XRCC2 XYLT1 YRDC ZBTB20 ZDHHC9 ZIC3 ZMPSTE24 ZNF141 ZNF407 ZNF423 ZNF668 ZNF699 HP_ABNORMAL_FOOT_BONE_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOOT_BONE_OSSIFICATION CANT1 COL2A1 EBP EIF2AK3 FLNA HOXA13 INPPL1 MATN3 PTH1R SLC35D1 TRIP11 HP_ABNORMAL_FOOT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOOT_MORPHOLOGY AAAS AAGAB AARS1 ABCA12 ABCC9 ABHD12 ABHD16A ABL1 ACAN ACTA1 ACTA2 ACTB ACTC1 ACTN2 ACVR1 ADA ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAT3 ADCY6 ADGRG6 ADGRV1 ADK ADNP ADPRS AEBP1 AFF3 AGA AGPAT2 AGRN AHCY AHI1 AIFM1 AIP AKT1 ALAD ALDH18A1 ALDH1A2 ALDH6A1 ALG12 ALG14 ALG2 ALG3 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ALS2 AMER1 AMMECR1 ANAPC1 ANK1 ANKRD1 ANKRD55 ANO1 ANO10 ANO5 ANOS1 AP1B1 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APTX AQP5 ARCN1 ARHGAP31 ARID1A ARID1B ARL13B ARL3 ARL6 ARL6IP1 ARL6IP6 ARMC9 ARSI ARSL ARVCF ARX ASAH1 ASNS ASPH ASXL1 ASXL3 ATAD1 ATAD3A ATG7 ATL1 ATL3 ATN1 ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2A2 ATP2B1 ATP5F1D ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATPAF2 ATR ATRIP ATRX AUTS2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT7 B4GAT1 B9D1 B9D2 BAG3 BAG5 BAP1 BAZ1B BBS1 BBS12 BBS2 BBS7 BBS9 BCAS3 BCL7B BCOR BCR BGN BHLHA9 BICD2 BIN1 BLTP1 BMP2 BMP4 BMPER BMPR1A BMPR1B BMS1 BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BUD23 C12orf57 C18orf32 C19orf12 C1R C2CD3 CACNA1A CACNA1B CACNA1C CADM3 CAMK2G CAMTA1 CANT1 CAP2 CAPN1 CAPN3 CARD14 CARS1 CASK CAST CASZ1 CAV1 CAV3 CAVIN1 CBFB CBY1 CC2D2A CCBE1 CCDC141 CCDC22 CCDC28B CCDC47 CCDC8 CCN2 CCN6 CCNK CCNQ CCR6 CCT5 CD247 CD28 CD4 CD96 CDC42 CDC42BPB CDC45 CDH3 CDK10 CDKL5 CDSN CENPE CENPJ CEP104 CEP120 CEP152 CEP290 CEP41 CEP55 CERS3 CERT1 CFL2 CFTR CHAT CHCHD10 CHD3 CHD7 CHD8 CHMP1A CHN1 CHP1 CHRM3 CHRNG CHST11 CHST14 CHST3 CHSY1 CIBAR1 CIC CILK1 CKAP2L CLCF1 CLCN3 CLCN4 CLDN11 CLIP2 CLTCL1 CNOT2 CNOT3 CNTNAP1 CNTNAP2 COA7 COASY COG1 COG4 COG6 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL17A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A3 COLQ COMP COMT COPB1 COQ8A COX4I1 COX6A1 COX7B CPLANE1 CPLX1 CPT1C CPT2 CREBBP CRIPT CRKL CRLF1 CRPPA CRYAB CSGALNACT1 CSNK2A1 CSPP1 CSRP3 CST6 CSTA CTBP1 CTC1 CTCF CTDP1 CTH CTLA4 CTNNA2 CTSB CTSC CTSK CTU2 CUL4B CUL7 CWC27 CYP27A1 CYP4F22 CYP7B1 DACT1 DAG1 DCAF8 DCC DCHS1 DCLRE1C DCPS DDHD1 DDHD2 DDR2 DDX11 DDX59 DDX6 DEAF1 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHH DHODH DHTKD1 DHX16 DHX30 DKC1 DLAT DLEC1 DLG4 DLK1 DLL4 DLX5 DMD DMPK DMXL2 DNA2 DNAJB2 DNAJC30 DNAJC6 DNM1L DNM2 DNMT3A DOCK6 DOK7 DOLK DONSON DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM3 DPYS DSC2 DSE DSG1 DSG2 DSP DST DUSP6 DVL1 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DYSF EBP ECEL1 EDEM3 EED EEF1A2 EFNB1 EGR2 EHMT1 EIF2AK2 EIF2AK3 EIF2S3 EIF3F EIF4A3 EIF4H EIF5A ELN EMD EMG1 EMILIN1 EN1 ENPP1 ENTPD1 EOGT EP300 EPB41L1 ERBB2 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERLIN2 ERMARD ESCO2 ESS2 EVC EVC2 EXOC6B EXOC7 EXOSC3 EXT1 EXT2 EXTL3 EZH2 FA2H FAM149B1 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBLN1 FBLN5 FBN1 FBN2 FBXL4 FBXO11 FBXO38 FBXO7 FBXW11 FDFT1 FDX2 FERMT1 FEZF1 FGD1 FGD4 FGF10 FGF14 FGF16 FGF17 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FHL2 FIBP FIG4 FITM2 FKBP10 FKBP14 FKBP6 FKRP FKTN FLI1 FLII FLNA FLNB FLRT1 FLRT3 FLVCR2 FMR1 FOS FOXE3 FOXG1 FRA10AC1 FRAS1 FREM1 FREM2 FUZ FXN GABBR2 GABRA1 GABRA3 GABRD GABRG2 GAD1 GALC GALNT2 GAN GARS1 GATA1 GATA4 GATA6 GATAD1 GATAD2B GBA1 GBA2 GBF1 GCH1 GDAP1 GDF11 GDF5 GDF6 GFM2 GFPT1 GHR GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GLB1 GLDN GLE1 GLI1 GLI3 GMNN GMPPA GMPPB GNA11 GNAI1 GNAO1 GNAS GNB1 GNB2 GNB4 GNE GNPTAB GNS GORAB GOSR2 GP1BB GPC3 GPC4 GPR101 GPX4 GRHL2 GRIA2 GRIA3 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM7 GSC GTF2E2 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HAAO HACD1 HACE1 HADHA HADHB HAND2 HARS1 HBA1 HBA2 HCN1 HDAC4 HDAC6 HDAC8 HEATR3 HEPACAM HEPHL1 HERC1 HERC2 HESX1 HEXB HEY2 HGD HINT1 HIRA HIVEP2 HK1 HLA-DRB1 HNRNPA1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXA13 HOXD10 HOXD13 HPGD HPRT1 HRAS HS2ST1 HS6ST1 HSD17B4 HSPB1 HSPB8 HSPD1 HSPG2 HTT HUWE1 HYLS1 IARS2 IBA57 IDS IDUA IFIH1 IFITM5 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGF1R IGF2 IGHMBP2 IHH IL11RA IL17RD IL2RA IL2RB IL2RG IL6ST IL7R IMPDH2 INF2 INPP5E INPP5K INPPL1 INSR INTS1 INTS8 IPO8 IQCE IQSEC2 IRF5 IRF6 IRX5 ITCH ITGA7 ITGA8 ITGB4 ITPR3 IVNS1ABP JAG1 JAG2 JARID2 JMJD1C JPH1 JPH2 JUP KANK2 KANSL1 KARS1 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNK9 KCNMA1 KCNN3 KCTD1 KDELR2 KDM4B KDM5C KDSR KIAA0319L KIAA0586 KIAA0753 KIAA0825 KIDINS220 KIF14 KIF1A KIF1B KIF22 KIF5A KIF5C KIF7 KL KLC2 KLHL24 KLHL41 KLHL9 KLLN KMT2A KMT2B KMT2D KMT5B KNSTRN KPNA3 KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 KY KYNU L1CAM LAMA3 LAMA4 LAMA5 LAMB2 LAMB3 LAMC2 LAMP2 LARGE1 LARS1 LAS1L LBR LDB3 LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LIMS2 LIPE LITAF LMBR1 LMBRD1 LMNA LMNB2 LMOD2 LMX1B LONP1 LORICRIN LOX LRP4 LRP5 LRSAM1 LSS LTBP3 LTBP4 LUZP1 LZTFL1 LZTR1 MAB21L2 MAD1L1 MAD2L2 MAF MAFB MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MASP1 MAT2A MATN3 MBD5 MBTPS2 MCM3AP MCOLN1 MCTP2 MECP2 MED12 MED12L MED13L MED25 MEF2C MEG3 MEGF10 MEGF8 MEIS2 MEN1 MET METTL23 METTL27 MFAP5 MFN2 MFSD2A MGAT2 MGP MIA3 MIR17HG MKKS MKRN3 MKS1 MLXIPL MME MMP1 MMP14 MMP2 MMP23B MORC2 MPV17 MPZ MRAS MRE11 MRPS28 MSL3 MSTO1 MSX1 MT-TE MT-TS1 MTM1 MTMR2 MTOR MTRFR MTTP MTX2 MUSK MYBPC1 MYBPC3 MYCN MYH11 MYH14 MYH3 MYH6 MYH7 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYO9A MYOD1 MYOT MYPN MYRF MYT1L NAA10 NAA20 NADSYN1 NALCN NARS1 NBAS NBN NCF1 NDE1 NDN NDNF NDRG1 NDST1 NDUFAF6 NEB NECTIN1 NECTIN4 NEDD4L NEFH NEFL NEK1 NEK8 NEK9 NELFA NEUROD2 NEXN NF1 NFATC2 NFIX NGLY1 NHP2 NIPA1 NIPAL4 NIPBL NKAP NKX2-5 NKX2-6 NKX3-2 NLRP1 NLRP3 NOD2 NOG NONO NOP10 NOTCH1 NOTCH2 NPAP1 NPHP3 NPM1 NPR2 NPR3 NR4A2 NRAS NRCAM NSD1 NSD2 NSDHL NSUN2 NT5C2 NTNG1 NUP107 NUP188 NUP85 NUP88 NXN OBSL1 OCA2 ODC1 OFD1 OGDHL OPA1 OPA3 ORAI1 ORC1 ORC6 OTUD5 OTUD6B PACS1 PAICS PALB2 PANK2 PAPPA2 PARN PCDH19 PCDHGC4 PCGF2 PCNA PCNT PDE4D PDE6D PDGFRB PDHA1 PDK3 PDPN PDXK PDZD8 PEPD PERP PEX1 PEX10 PEX2 PEX26 PEX5 PEX6 PEX7 PHEX PHF6 PHF8 PHGDH PHIP PHYH PI4KA PIBF1 PIEZO2 PIGB PIGF PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGS PIGV PIGY PIK3CA PIK3CD PITX1 PKP1 PLA2G6 PLAA PLEC PLEKHG5 PLIN4 PLK4 PLN PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PMM2 PMP2 PMP22 PMPCA PNKP PNPLA1 PNPT1 POC1A PODXL POGZ POLG POLR3A POLR3GL POLRMT POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POR PORCN POU3F4 PPARG PPCS PPM1D PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM16 PRDM5 PRG4 PRKACA PRKACB PRKAR1A PRKCG PRKCZ PRKD1 PRKG1 PRKG2 PRMT7 PROK2 PROKR2 PRPS1 PRR12 PRUNE1 PRX PSAT1 PSEN1 PSEN2 PSMB8 PSMD12 PTCH1 PTCH2 PTEN PTH1R PTHLH PTPN2 PTPN22 PTRH2 PUF60 PWAR1 PWRN1 PYCR1 PYCR2 PYROXD1 RAB11B RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAB7A RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALA RBBP8 RBM10 RBM20 RBM8A RBPJ RECQL4 REEP1 REEP2 RELN REPS1 RERE RET RETREG1 REV3L RFC2 RFT1 RFWD3 RFX7 RHBDF2 RHOA RIN2 RINT1 RIPK4 RIT1 RLIM RMRP RNF2 RNF6 RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL3L RPS6KA3 RREB1 RSPO1 RSPO2 RSPRY1 RTEL1 RTL1 RTN2 RTTN RUSC2 RXYLT1 RYR1 RYR3 SACS SALL1 SALL4 SAMD9 SAMD9L SARS1 SASH1 SATB1 SATB2 SBF1 SBF2 SC5D SCARF2 SCN1A SCN1B SCN2A SCN4A SCN5A SCN9A SCNM1 SCO2 SCYL1 SCYL2 SDHA SDHB SDHC SDHD SDR9C7 SEC23A SEC23B SEC24C SEC31A SELENON SEMA3A SEMA3E SERPINA12 SERPINB7 SETBP1 SETD2 SETD5 SETX SF3B4 SGCA SGCD SGCG SH3PXD2B SH3TC2 SHANK3 SHH SHMT2 SHOX SHROOM4 SIAH1 SIGMAR1 SIK1 SIK3 SIL1 SIM1 SIN3A SKI SLC10A7 SLC12A2 SLC12A6 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC1A3 SLC1A4 SLC25A1 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC31A1 SLC32A1 SLC33A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC39A8 SLC5A7 SLC6A8 SLC6A9 SLC9A6 SLC9A7 SLCO2A1 SLURP1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCD2 SMARCE1 SMC1A SMC3 SMC5 SMG9 SMO SMOC1 SMPD4 SMS SNAP25 SNAP29 SNCA SNIP1 SNORD115-1 SNORD116-1 SNRPN SNX14 SOD1 SON SORD SOX10 SOX18 SOX4 SOX5 SOX9 SPART SPAST SPECC1L SPEG SPEN SPG11 SPG7 SPRED2 SPRTN SPRY4 SPTBN1 SPTBN4 SPTLC1 SRD5A3 SRY STAC3 STAG1 STAG2 STAT4 STS STX1A STX1B STXBP1 SUFU SULT2B1 SUMF1 SUZ12 SVBP SVIL SYNE1 SYNE2 SYNJ1 SYT1 SYT2 TACR3 TAF1 TAF1A TAF2 TAF6 TAF8 TAFAZZIN TAOK1 TAT TBC1D23 TBC1D24 TBC1D2B TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX22 TBX3 TBX4 TCAP TCF12 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TDO2 TDP1 TELO2 TERC TERT TET3 TFAP2B TFE3 TFG TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGM1 TH THOC6 THSD4 TINF2 TLK2 TLL1 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM43 TMEM67 TMEM94 TMPO TMTC3 TNFRSF1B TNNC1 TNNI2 TNNI3 TNNT1 TNNT2 TNNT3 TOGARAM1 TONSL TOPORS TOR1A TOR1AIP1 TP63 TPM1 TPM2 TPM3 TPR TRAIP TRAPPC11 TRIM2 TRIM8 TRIO TRIP11 TRIP12 TRIP4 TRMT1 TRMT10A TRMT5 TRPM3 TRPM4 TRPS1 TRPV3 TRPV4 TRRAP TSPOAP1 TTC21B TTC26 TTI2 TTN TTPA TUBB3 TWIST1 TWIST2 TWNK TXNDC15 TXNL4A TXNRD2 TYMS TYROBP UBA1 UBA2 UBAP1 UBE2A UBE2T UBE3B UBE4B UCHL1 UFC1 UFD1 UNC80 UPF3B USB1 USF3 USP7 USP8 USP9X VAC14 VAMP1 VANGL1 VAPB VARS1 VCL VCP VEZF1 VIPAS39 VLDLR VPS13A VPS13B VPS13D VPS33B VPS35L VPS37D VPS41 VRK1 VWA1 WAC WARS1 WARS2 WASF1 WASHC5 WDPCP WDR11 WDR19 WDR26 WDR35 WDR73 WDR81 WIPI2 WLS WNK1 WNT10A WNT10B WNT5A WNT7A WRAP53 WRN WWOX XPA XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YME1L1 YY1 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFYVE26 ZFYVE27 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF141 ZNF148 ZNF407 ZNF423 ZNF469 ZNF668 ZNF699 ZSWIM6 HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY ALDH18A1 CHD4 CREBBP ELN EP300 FBLN5 FGFR3 FLNA FLNB GPSM2 HNRNPH1 IARS2 INPPL1 LBR RAB23 RSPRY1 RUNX2 HP_ABNORMAL_FOREARM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOREARM_MORPHOLOGY AEBP1 AFF3 AFF4 AGA ALG12 ANAPC1 APC ARID1B ASXL1 ATR B2M B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BGN BHLHA9 BICRA BMP1 BMPR1B BRAF BRCA1 BRCA2 BRD4 BRIP1 BUD23 CANT1 CBL CCDC8 CCNQ CD96 CDC45 CHD7 CHN1 CHRNG CHST3 CHSY1 CILK1 CLCN3 CLIP2 COL10A1 COL11A1 COL1A1 COL27A1 COL2A1 COL5A1 COL5A2 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP CPLX1 CREBBP CSGALNACT1 CTBP1 CUL7 CYP26B1 DHCR7 DHODH DNAJC30 DONSON DVL1 DYNC2H1 EIF4A3 EIF4H ELN EP300 ERCC1 ERCC4 ESCO2 EXOC6B EXT1 EXT2 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FKBP10 FKBP6 FLNA FLNB FZD2 GDF5 GLI3 GPC6 GSC GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HOXA11 HOXD13 IFIH1 IFITM5 IFT43 IFT81 IHH JAG1 KAT6B KIF22 KRAS L1CAM LAMA5 LBR LETM1 LIMK1 LMBR1 LMX1B LRP4 LZTR1 MACROH2A1 MAD2L2 MAF MAFB MAGEL2 MAP2K1 MAP2K2 MAP3K7 MASP1 MECOM METTL27 MLXIPL MMP13 MMP9 MRAS MYH3 NALCN NCF1 NDN NIPBL NOG NOTCH2 NPR2 NRAS NSD2 OBSL1 P3H1 PALB2 PCNT PDE4D PIEZO2 PIGT PITX1 PLXND1 POR PRKAR1A PRKG2 PTDSS1 PTPN11 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RBM10 RBM8A RECQL4 REV3L RFC2 RFWD3 RIPK4 RIT1 RNU4ATAC ROR2 RPL26 RPS19 RRAS RRAS2 SALL4 SAMD9 SCARF2 SETBP1 SF3B4 SHH SHOX SKI SLC26A2 SLC39A13 SLX4 SMAD6 SMC1A SMC3 SNRPN SOS1 SOS2 SOX9 SPRED2 SRCAP STX1A TAPT1 TBL2 TBX15 TBX22 TBX3 TBX5 TGFB1 TMEM270 TMEM67 TNFRSF11A TNNI2 TNNT3 TPM2 TRIO TRIP11 TRPV4 TWIST1 UBE2T VPS35L VPS37D WNT5A WNT7A XRCC2 XYLT1 ZIC3 HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES ABCC9 ACAN ACP5 ACTB ACVR1 ADA AEBP1 AGA AHI1 AIFM1 AIP AKT1 ALDH1A2 ALG12 ALPL ANKRD11 ANTXR1 APC ARL13B ARL3 ARMC9 ARSB ARSK ARSL ATP6V1B2 ATP7A ATRX B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BAZ1B BCL11A BCL7B BGN BMP1 BUD23 CANT1 CAPN15 CBS CBY1 CCDC22 CCDC8 CCL2 CCN6 CDH11 CDK10 CEP104 CEP120 CEP41 CFAP410 CHD7 CHN1 CHRNG CHST3 CLCN7 CLIP2 COG1 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CPLX1 CREB3L1 CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CUL7 CYP27A1 DDR2 DDRGK1 DEAF1 DHCR7 DHX37 DLK1 DLL3 DMP1 DNAJC21 DNAJC30 DPP9 DPYSL5 DVL1 DVL3 DYM EBP EIF2AK3 EIF4H EIF5A ELN ENPP1 EXOC6B EXTL3 FANCB FANCC FBN1 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FKBP6 FLI1 FLII FLNA FLNB FN1 FOXF1 FUCA1 FUZ FZD2 GALNS GJA1 GLB1 GLE1 GLI3 GNPAT GNPTAB GNS GORAB GPX4 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HAAO HDAC6 HES7 HGSNAT HHAT HNRNPR HSPA9 HSPG2 HYLS1 IARS2 IDH1 IDH2 IDUA IFITM5 IFT43 IFT74 IHH IKBKG INPP5E INPPL1 IPO8 IQSEC2 ITCH JAG1 KATNIP KCNJ8 KDELR2 KDM6A KIAA0586 KIAA0753 KIF22 KMT2D KYNU LAMA5 LBR LETM1 LFNG LIFR LIMK1 LONP1 LRP4 LRP5 LRRK1 LTBP1 LTBP3 LYSET MADD MAFB MAN2B1 MAP3K7 MATN3 MBD5 MBTPS2 MEG3 MESP2 METTL27 MIA3 MKS1 MLXIPL MMP13 MMP14 MMP2 MPL MRPS28 MYH3 NAGLU NANS NCF1 NEK1 NELFA NEPRO NEU1 NF1 NKX3-2 NMNAT1 NOTCH2 NOTCH2NLC NOTCH3 NPR2 NSD2 OBSL1 OCRL OFD1 ORC1 OTUD5 P3H1 P4HB PAICS PAM16 PAPSS2 PCYT1A PDE4D PDE6D PEX7 PIBF1 PIEZO2 PIGG PLCB3 PLEKHM1 PLOD1 PLOD2 PLOD3 PMM2 POLR3A POP1 POR PPIB PPP1R15B PRKAR1A PRKG2 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PUF60 PYCR1 RAB33B RAD21 RAI1 RFC2 RINT1 RIPPLY2 RMRP RNU4ATAC ROR2 RPL13 RPS19 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL4 SBDS SC5D SEC23A SEC24D SEMA3E SERPINF1 SERPINH1 SF3B2 SF3B4 SFRP4 SGMS2 SGSH SH3PXD2B SIX6 SKI SLC10A7 SLC25A24 SLC26A2 SLC29A3 SLC35D1 SLC39A13 SMAD4 SMARCAL1 SMOC1 SON SOST SOX2 SOX5 SPARC SRP54 STAG2 STX1A SUFU SUMF1 TAPT1 TBC1D24 TBL2 TBX15 TBX2 TBX6 TBXAS1 TBXT TCIRG1 TCTN1 TCTN2 TCTN3 TENT5A THPO TMCO1 TMEM218 TMEM237 TMEM270 TMEM53 TMEM67 TNFRSF11A TOGARAM1 TONSL TRAPPC2 TRIP11 TRPV4 TWIST1 UBE3B UFSP2 USP8 VANGL1 VANGL2 VDR VPS35L VPS37D WASHC5 WBP11 WNT1 WNT5A WNT7A XYLT1 XYLT2 ZBTB20 HP_ABNORMAL_FOURTH_TOE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOURTH_TOE_MORPHOLOGY BCOR COG8 EOGT FRA10AC1 HEPHL1 MAP3K20 NOG PPP2R5D RAB3GAP2 TBC1D2B HP_ABNORMAL_FOURTH_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOURTH_VENTRICLE_MORPHOLOGY AFF3 ALG3 AP1S2 ARID1A ARID1B ARID2 ARMC9 ASNS ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATXN1 ATXN2 ATXN3 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BLTP1 BUB1 BUB1B BUB3 C2CD3 CASK CC2D2A CCDC22 CDC42 CDKN1C CEP120 CEP290 CEP57 CHD7 COL4A1 COX20 CPT2 CRPPA CSF1R CSPP1 DAG1 DDX3X DENND5A DHCR7 DOK7 DPF2 DPH1 DPH2 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP ESCO2 EVC EVC2 EXOC2 FAR1 FGFR1 FKRP FKTN FLVCR2 FTO GJB2 GJB6 GLI3 GMPPB GPC3 GPC4 GRM1 GTPBP2 HRAS HYLS1 IFT80 IGF2 KCNQ1 KCNQ1OT1 KIAA0586 KIF21A KIF5A KIF7 KRAS LAMA1 LARGE1 MAB21L1 MAPKAPK5 MEF2C MID1 MKS1 MRE11 MTM1 MUSK MYOD1 NIPA1 NIPA2 NPHP3 NRAS NUP88 OFD1 PGAP2 PHGDH PIEZO2 PIGN PLCH1 PLG PMM2 PMPCA POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB RAC1 RAPSN RNF113A RNU12 RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SLC18A3 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 TBC1D24 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIP13 TUBA1A TUBB TUBG1 TXNDC15 USP9X VPS35L VPS51 WARS2 WASHC5 WDR35 WDR73 WDR81 WLS ZIC1 HP_ABNORMAL_FOVEAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY ABCA4 AP3D1 APOE ATF6 BLOC1S3 BLOC1S5 CACNA1F CFAP418 CFHR1 CFHR3 CNGA3 CNGB3 CTNNA1 DCT ELOVL4 FZD4 GDF3 GDF6 GNAT2 GPR143 HMCN1 HPS4 HPS5 HPS6 IDS IKBKG IMPG1 LRP5 MC1R MFRP MTSS2 NEU1 OAT OCA2 OFD1 PAX6 PDE6C PDE6G PDE6H PROM1 PRPH2 PRR12 RAB28 RBP4 RDH5 RHO RLBP1 RPE65 RPGR SLC24A5 SLC25A19 SLC38A8 SLC45A2 TLCD3B TULP1 TYR UGP2 WT1 HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT CLEC3B GUCA1A GUCY2D PRPH2 RLBP1 SLC24A5 HP_ABNORMAL_FRONTAL_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FRONTAL_BONE_MORPHOLOGY ABL1 ACAN ACOX1 ACP5 ADK AGO2 AIP ALDH18A1 ALDH6A1 ALG9 ALPL ALX1 ALX4 AMER1 ANKRD11 ANTXR1 AP1G1 APC ARID1B ARID2 ATAD3A ATIC ATP6V0A2 ATP6V1B2 B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BAP1 BGN BICRA BMPR1A BRAF BRCA1 BRCA2 BRIP1 BRWD3 BUB1 BUB1B BUB3 C12orf57 CACNA1C CAMKMT CASZ1 CBL CCDC22 CCDC8 CDC42BPB CDH2 CDKN1C CEP57 CHD1 CHD3 CHD5 CHRNA7 CHST3 CKAP2L CLCN3 CLCN7 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A2 COX4I1 COX5A CPLANE1 CPLX1 CREBBP CRIPT CRPPA CRTAP CSGALNACT1 CSPP1 CTBP1 CTNNB1 CTNS CTSK CUL7 CUX1 CWC27 CYP27B1 CYP2R1 D2HGDH DDR2 DDX59 DDX6 DEAF1 DENND5A DHCR24 DICER1 DLK1 DLX3 DLX5 DPYSL5 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EBP EDA EDA2R EDAR EDARADD EFNB1 EIF5A EMC10 EP300 EPB41 EPB41L1 ERCC4 ERF EXTL3 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FGFR1 FGFR2 FGFR3 FH FLI1 FLII FLNA FLNB FMR1 FUCA1 FZD2 GABRD GATAD2B GJA1 GJA5 GJA8 GK GLB1 GLI3 GMNN GNB2 GNE GNS GPC6 GPR101 GRB10 GRIN1 GYPC H3-3A H3-3B HBA1 HBA2 HBB HDAC4 HDAC6 HECTD4 HEPACAM HERC1 HK1 HMGA2 HNRNPU HOXD13 HRAS HSD17B4 HSPG2 IDUA IFT122 IFT140 IFT43 IFT52 IFT80 IGF2 IKBKG IL11RA INPPL1 INTS1 INTU IPO8 IQSEC2 ITCH JAG1 JARID2 KAT6A KATNIP KCNAB2 KCNJ1 KCTD1 KDM1A KIAA0586 KIAA0753 KIDINS220 KIF7 KLF1 KMT2B KNSTRN KPTN KRAS KYNU LARS1 LBR LEMD3 LETM1 LIFR LRP4 LRP5 LUZP1 MAD2L2 MADD MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MBD5 MBTPS2 MED12 MED13L MED27 MEG3 MEGF8 MEN1 MID1 MITF MMP2 MMP23B MOCS1 MOCS2 MPDZ MSX2 MTHFR MTOR MTX2 NAA10 NALCN NCAPG2 NELFA NEU1 NFIA NFIX NFKBIA NLRP3 NONO NPR2 NRAS NSD1 NSD2 NTNG2 NXN OBSL1 OCRL OFD1 OPHN1 ORC1 OSGEP P4HB PAFAH1B1 PAK1 PALB2 PAM16 PCGF2 PDE4D PDE6D PDGFRB PDHA1 PDPN PEX5 PEX7 PHEX PIGG PIGL PIGN PIK3CA PIK3CD PIK3R1 PIK3R2 PLA2G6 PLAG1 PLCH1 PNPLA6 POLE POLR1B POLR1C POLR1D POLR3A POR POU1F1 PPM1B PPP1CB PPP2CA PPP2R5D PRDM16 PREPL PRIM1 PRKCZ PRKD1 PRMT7 PTCH1 PTCH2 PTDSS1 PTEN PTHLH PURA PYCR1 RAB39B RAD51 RAD51C RAI1 RECQL4 RERE RFWD3 RFX7 RNPC3 RNU12 ROR2 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL4 SATB2 SCN4A SCNM1 SEC23A SEC24D SETBP1 SIK3 SIN3A SIX2 SIX6 SKI SKIC3 SLC26A2 SLC34A3 SLC39A13 SLC3A1 SLX4 SMARCA2 SMARCD1 SMC3 SMC5 SMG8 SMOC1 SNX10 SNX14 SON SOST SOX2 SOX5 SOX9 SP7 SPECC1L SPEN SPOP SPRTN SPTA1 SPTB STAG2 STAT3 SUFU SUPT16H TBC1D24 TBCD TBCE TBX15 TBX4 TCF20 TCIRG1 TCOF1 TCTN3 TGFB1 THUMPD1 TIMM50 TMEM216 TOGARAM1 TONSL TOPORS TRIM37 TRIO TRIP11 TRIP13 TRPS1 TRPV6 TTC26 TWIST1 UBE2T UBE4B UGP2 UNC80 USB1 VANGL2 VDR VPS35L WASHC5 WDR19 WDR35 WNT5A XRCC2 YWHAE ZEB2 ZNF148 HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM ABCA4 ACOX1 ADAR AIPL1 ALG3 ATF6 BEST1 CABP4 CACNA1F CACNA2D4 CERKL CFAP418 CLRN1 CNGA3 CNGB3 CYP4V2 GNAT1 GNAT2 GNB3 GPR179 GRK1 GRM6 GUCY2D IDH3B IDS IMPDH1 KIF3B LARGE1 LRAT LRIT3 MCOLN1 MFRP MT-ATP6 NR2E3 NUP54 NUP62 NYX OPN1SW PCYT1A PDE6B PDE6C PDE6H PEX12 POMGNT1 PPT1 PROM1 PRPH2 RDH5 RGR RHO RLBP1 RP1 RP1L1 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SLC24A1 TRPM1 TTC8 USP45 ZNF513 HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING AIRE ARL6 ARSG BBS1 CCDC28B CFAP418 CFH CFI CWC27 EFEMP1 GUCA1A GUCY2D IDH3A IFT172 KIAA1549 KIF3B KIZ KLHL7 MFSD8 POMGNT1 PROM1 PRPF31 PRPF8 PRPH2 RAX2 RPGR TIMP3 TLCD3B TTLL5 HP_ABNORMAL_GALLBLADDER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GALLBLADDER_MORPHOLOGY ABCB11 ABCB4 ABCG8 ACVRL1 AIRE ALAS2 ALDOA AMACR ANK1 ARSA ARVCF ASXL1 ATP8B1 B3GLCT BAZ1B BCL7B BLVRA BUD23 CC2D2A CCDC47 CLIP2 CNOT1 COMT CYP27A1 CYP7A1 DMPK DNAJC30 EIF4H ELN ENG EPB41 EPB42 FECH FKBP6 FOXF1 GATA6 GBA1 GCGR GDF2 GNE GP1BB GPI GPR35 GTF2I GTF2IRD1 GTF2IRD2 GYPC HBB HIRA HK1 INTU JMJD1C KCNN4 KDM5C LIMK1 MED25 METTL27 MLXIPL MST1 NCF1 PEX19 PFKM PIEZO1 PKHD1 PKLR PSAP RFC2 RFX6 RREB1 SC5D SCNN1A SCNN1B SCNN1G SEC23B SEC24C SEMA4D SLC4A1 SMAD4 SMPD1 SON SPTA1 SPTB STX1A TBL2 TBX1 TCF4 TFE3 TMEM270 TPI1 UFD1 UQCRFS1 UROS VPS37D VPS4A HP_ABNORMAL_GAMMA_GLUTAMYLTRANSFERASE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GAMMA_GLUTAMYLTRANSFERASE_LEVEL ABCB4 ALMS1 AP1B1 BCS1L CNOT1 COG6 DCDC2 DEF6 DZIP1L FCSK GGT1 GIMAP5 GPD1 IARS1 KIF12 LIPA LYRM4 MARS1 MICOS13 MPV17 MRPL3 MYO5B PEX2 PKD2 PKHD1 SLC25A13 SLC2A1 SLC2A2 SLC37A4 SLC51A SLC51B TREX1 TRMT10C TTC26 UBR1 VPS33B XK HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY ABCC2 AIRE ARID1B BAZ1B BCL7B BUD23 CARD8 CASP10 CDH1 CISD2 CLIP2 CTLA4 DEF6 DNAJC30 EIF4H ELF4 ELN FAS FASLG FKBP6 FOCAD FOXP3 GBA1 GTF2I GTF2IRD1 GTF2IRD2 IFIH1 IGHG2 IGKC IPO8 LBR LIMK1 LRBA METTL27 MLXIPL NCF1 NFKB1 PLA2G4A PRKCD RASGRP1 RFC2 RIPK1 SKIC2 SKIC3 STX1A SYK TBL2 TMEM270 VPS37D WFS1 HP_ABNORMAL_GASTROINTESTINAL_MOTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTROINTESTINAL_MOTILITY AAAS ACTA2 ACTB ACTG2 ANO1 ATP1A2 ATP1A3 BRCA1 BRCA2 CACNA1A CAMK2A CAMK2B CAVIN1 CDK4 CDKN2A CEACAM3 CEACAM6 CFTR CLCA4 CLMP COL4A5 COL4A6 CPOX DCTN4 DDIT3 DHCR7 EDNRA ERBB3 EWSR1 FAH FCGR2A FLNA FLVCR1 FOXP3 FUS GCLC GLA GMPPA GSTM3 GUCY1A1 GUCY2C HFE HMBS HMGA2 HMOX1 HNRNPK HSD17B10 IARS2 IDS IVNS1ABP KCNN4 KIF26A KRAS LIG3 LMOD1 MDM2 MEIS2 MIF MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTRFR MYH11 MYL9 MYLK MYO1H NUTM2B-AS1 PALB2 PALLD PHOX2B POLG PPOX PRDM12 RABL3 RAD21 RRM2B SAMD9 SERPINA1 SGO1 SLC11A1 SLC18A3 SLC1A3 SLC26A9 SLC6A14 SLC6A8 SLC9A3 SMAD4 SMO SON SOX10 STAT3 STX1A TANGO2 TGFB1 TP53 TRAPPC11 TWNK TXN2 TYMP UBR7 UNC45A WFS1 WT1 HP_ABNORMAL_GASTROINTESTINAL_VASCULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTROINTESTINAL_VASCULAR_MORPHOLOGY ACVRL1 CTC1 ENG GLMN VWF HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY ADAR ADH1C ADNP AIFM1 AKT3 AP4M1 APC APC2 ARX ATP6V1A ATXN2 ATXN3 ATXN8OS AVP BCS1L BMPR1A BRAT1 BRCA2 C9orf72 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHCHD10 CHEK2 CHMP2B CNTN2 COX15 CSF1R CYP27A1 DNAJC13 DTYMK DYRK1A EHMT1 EIF2B1 EIF4G1 EPCAM ERBB2 ERCC6 ERCC8 ETFA ETFB ETFDH FAN1 FARS2 FBXO7 FGFR1 FUS GBA1 GDAP2 GIGYF2 GLS GLUD2 GRN HSD17B4 HTT IDH1 IDH2 IFNG KARS1 KCNT1 KDM3B KMT2C KRAS L2HGDH LAMA2 LMNB1 LONP1 LRPPRC LRRK2 MAN2B1 MAPT MDM2 MEN1 MLH1 MLH3 MOCS1 MOCS2 MSH2 MSH3 MSH6 MT-ATP6 MT-TT MTOR NARS2 NAXD NBN NDUFS8 NF1 NF2 NGLY1 NR4A2 NSD1 NUP54 NUP62 PAX2 PDHA1 PIGA PIK3CA PLA2G6 PLP1 PMPCA PMS1 PMS2 POLG POT1 PRKN PRNP PSEN1 PTEN RANBP2 RELA RPS20 SCO2 SEMA4A SERPINI1 SETBP1 SETD2 SLC25A46 SLC30A10 SMO SNCA SNCAIP SPRED1 SQSTM1 STRADA TARDBP TBCD TBK1 TBP TFG TGFBR2 THOC2 TLR3 TMEM106B TP53 TREM2 TSC1 TSC2 TSEN54 TYROBP UBQLN2 VCP VPS35 VRK1 YY1 ZFTA ZNF335 HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY AGO1 C19orf12 COASY CYP27A1 CYP2U1 DLAT FA2H FTL GCDH GTPBP2 IDH1 KCNQ2 KMT2B MMUT NUDT2 PANK2 PLA2G6 POLR2A SLC30A10 SLC44A1 VPS16 VPS41 WDR45 HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY APOE CFHR5 COPA KIRREL1 SGPL1 SPRY2 HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY ACTN4 ADA ANKFY1 ANLN APOE APOL1 ARHGAP24 ARHGDIA AVIL CD2AP CD81 CFHR5 COL4A3 COPA COQ6 COQ8B CRB2 DAAM2 EMP2 FN1 GAPVD1 GON7 INF2 KIRREL1 LAMB2 MAGI2 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PLCE1 PTPRO SGPL1 SPRY2 TBC1D8B TP53RK TRPC6 WDR73 WT1 YRDC HP_ABNORMAL_GLUCOSE_HOMEOSTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS ABCA4 ABCB4 ABCC8 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACSF3 ACSL5 ADA2 ADAR ADCY3 AEBP1 AFF4 AGBL5 AGL AGPAT2 AHI1 AHR AIP AIRE AKT2 ALAS2 ALDH7A1 ALDOB ALG12 ALMS1 AMACR APC2 APOA5 APOE APPL1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARMC5 ARNT2 ASXL2 ATIC ATM ATP5F1D ATP7A ATRX AUH BAZ1B BBS1 BBS2 BBS9 BCKDHA BCKDHB BCL7B BCS1L BEST1 BLK BLM BMP2 BMP6 BRAF BRCA1 BRCA2 BSCL2 BUD23 CA4 CA5A CACNA1C CACNA1S CAMKMT CARS1 CASR CAT CAV1 CAVIN1 CC2D2A CCDC28B CDH23 CDHR1 CDKN1B CDKN1C CDKN2A CDON CEL CELA2A CEP19 CERKL CFAP418 CFTR CIC CIDEC CISD2 CLCNKB CLIP2 CLPB CLRN1 CNBP CNGA1 CNGB1 CNOT1 COG7 COG8 COL2A1 CORIN COX10 COX11 COX16 CP CPA1 CPE CPT1A CPT2 CRB1 CRX CTC1 CTDP1 CTLA4 CTNNB1 CTNS CTRC CYB561 CYC1 CYP11A1 CYP19A1 CYP21A2 DBH DBT DCAF17 DGUOK DHDDS DHX38 DIS3L2 DISP1 DKC1 DLD DLK1 DLL1 DMXL2 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNASE2 DNM1L DNMT1 DOLK DUT DYRK1B EBP EDA EDA2R EFL1 EHHADH EIF2AK3 EIF2S3 EIF4H ELMO2 ELN ENPP1 ERCC6 ESR1 ETFA ETFB ETFDH EYS FAH FAM161A FARSB FBN1 FBP1 FCGR3B FGF20 FGF8 FGFR1 FKBP6 FLT1 FMR1 FOCAD FOS FOXA2 FOXC2 FOXH1 FOXP1 FOXP3 FOXRED1 FSCN2 FUT8 FUZ FXN G6PC1 GABRA3 GALK1 GALT GAS1 GATA3 GATA6 GATB GATC GATM GCDH GCGR GCK GFM2 GFRA1 GH1 GHR GHSR GJA1 GJB3 GJB4 GK GLI2 GLI3 GLIS3 GLRX5 GLUD1 GLYCTK GNAS GOSR2 GPC3 GPC4 GPD2 GPR101 GPR161 GPR35 GRB10 GREB1L GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GYG1 GYS2 H19 HADH HADHA HADHB HAMP HBB HERC1 HERC2 HESX1 HFE HGSNAT HJV HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA1 HMGA2 HMGCL HMGCS2 HNF1A HNF1B HNF4A HRAS HSD11B1 HSD17B10 HSD3B2 HTRA2 HYMAI HYOU1 IARS1 IARS2 IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT88 IGF1 IGF1R IGF2 IGF2BP2 IGFALS IGHG2 IGKC IL18BP IL2RA IL6 IMPDH1 IMPG1 IMPG2 INS INSR IRF4 IRS1 IRS2 ITCH ITGA8 ITPR3 KCNE3 KCNJ11 KCNJ18 KCNQ1 KCNQ1OT1 KCTD1 KDM6A KDSR KHK KIAA1549 KIZ KLF11 KLHL7 KRAS LEMD2 LEMD3 LEP LEPR LHX1 LHX3 LHX4 LIG4 LIMK1 LIPC LIPE LMF1 LMNA LMNB2 LRAT LRBA LRP6 LRPPRC LSM11 MADD MAFA MAGEL2 MAK MAPK8IP1 MC2R MC4R MCCC1 MCCC2 MEF2A MEG3 MEN1 MERTK METTL27 MFN2 MIA3 MICOS13 MICU1 MKKS MKRN3 MLXIPL MLYCD MMACHC MMP14 MMP2 MMUT MOG MPC1 MPI MPV17 MRAP MRPS2 MRPS28 MRPS7 MSL3 MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTNR1B MTO1 MTOR MTX2 NAA10 NAB2 NAF1 NARS2 NBAS NCF1 NDN NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NEUROD1 NEUROG3 NFKB2 NFS1 NHP2 NKX2-5 NNT NODAL NOP10 NOTCH3 NPAP1 NPM1 NR1H4 NR2E3 NR3C1 NRL NSD1 NSMCE2 NUAK2 NUBPL OCA2 ODC1 OFD1 OPA1 OTC OTX2 PAK1 PALB2 PALLD PAPPA2 PARN PAX4 PAX6 PC PCARE PCBD1 PCCA PCCB PCK1 PCK2 PCNT PCSK1 PDE4D PDE6A PDE6B PDE6G PDX1 PET100 PEX1 PEX10 PEX6 PGM1 PHKA1 PHKA2 PHKB PHKG2 PI4KA PIK3R1 PLAG1 PLAGL1 PLCD1 PLIN1 PLPBP PMM2 PNPLA2 PNPLA6 PNPO POC1A POGZ POLA1 POLD1 POLG POLG2 POLR3A POMC POMGNT1 POR POU1F1 PPARG PPM1B PPP1R15B PPP1R3A PPP2R5D PRCD PREPL PRKACA PRKAG2 PRKAR1A PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS1 PRSS2 PSMB8 PSTPIP1 PTCH1 PTEN PTF1A PTPN1 PTPN22 PTRH2 PWAR1 PWRN1 PYGL QRSL1 RABL3 RAC1 RBP3 RDH12 REEP6 RET RETN RFC2 RFX6 RGR RHO RIMS2 RLBP1 RNASEH2A RNASEH2B RNASEH2C RNF125 RNU7-1 ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRM2B RTEL1 RTL1 SAG SAMD9 SAMHD1 SARS2 SBDS SCAPER SCN4A SCO1 SECISBP2 SEMA4A SEMA4D SERAC1 SETD2 SGPL1 SH2B1 SHH SHPK SIM1 SIN3A SIX3 SLC12A3 SLC16A1 SLC19A2 SLC1A1 SLC22A5 SLC25A20 SLC25A36 SLC25A4 SLC29A3 SLC2A2 SLC30A8 SLC34A1 SLC37A4 SLC3A1 SLC40A1 SLC52A1 SLC5A1 SLC5A2 SLC7A14 SMAD4 SMC5 SMPD4 SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOX2 SOX3 SPATA7 SPI1 SPINK1 SRP54 STAR STAT1 STAT3 STAT6 STOX1 STUB1 STX1A SUCLG1 SUFU TANGO2 TBL2 TBX19 TCF4 TCF7L2 TDGF1 TERC TERT TFAM TFE3 TFG TGIF1 THRB TIMMDC1 TINF2 TKT TLR8 TMEM126B TMEM270 TOM1 TOPORS TP53 TREX1 TRMT10A TRMT5 TRPM3 TTC7A TTC8 TTPA TUB TULP1 TWNK TXNRD2 TYMS UBR1 UCP2 UQCC3 UQCRB UQCRC2 UQCRH USB1 USH2A USP48 USP8 VANGL1 VANGL2 VPS37D WARS2 WDR11 WFS1 WNT9B WRAP53 WRN WT1 XRCC4 YARS1 YIPF5 YY1 ZBTB20 ZFP57 ZFYVE26 ZIC2 ZMPSTE24 ZNF408 ZNF513 ZNF668 ZNRF3 HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM ARSA GLA GM2A HEXA HEXB MCOLN1 PSAP HP_ABNORMAL_GLYCOSYLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSYLATION ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 CAD CAMLG CCDC115 COG1 COG2 COG4 COG5 COG6 COG7 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 EDEM3 GALNT2 GET4 GORAB MAGT1 MAN1B1 MGAT2 MPDU1 MPI PGM1 PGM2L1 PMM2 RFT1 SLC35A2 SLC37A4 SLC39A8 SRD5A3 SSR4 STT3A STT3B TMEM199 HP_ABNORMAL_GONADOTROPIN_RELEASING_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GONADOTROPIN_RELEASING_HORMONE_CONCENTRATION ANOS1 CCDC141 CHD7 DCC DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 HESX1 HS6ST1 IL17RD NDNF PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3 WDR11 HP_ABNORMAL_GRANULOCYTE_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTE_COUNT AARS1 ABCD4 ACP5 ADA ADA2 AGA AK2 AMN ANAPC1 AP3B1 AP3D1 ASXL1 ATRX BACH2 BCL11B BCOR BLNK BRAF BTK BTNL2 CAMK2B CAPN3 CARD10 CARD11 CARD9 CARS1 CASP10 CBL CD247 CD3D CD3E CD40 CD40LG CD79A CD79B CDC40 CDH23 CDSN CEBPE CHD7 CIITA CLPB COG4 CSF3R CTLA4 CUBN CXCR2 CXCR4 DCLRE1C DIAPH1 DNAJC21 DOCK8 EFL1 EIF2AK3 ELANE EPG5 ERCC2 ERCC3 ETV6 EXTL3 FANCA FANCC FANCD2 FANCE FANCG FANCI FAS FASLG FBXL4 FBXW7 FCGR3B FDX2 FIBP FIP1L1 FMO3 FNIP1 FOXP3 FUT8 G6PC3 GATA1 GATA2 GFI1 GINS1 GSS GTF2E2 GTF2H5 HAX1 HEATR3 HLA-DRB1 HSCB HTRA2 ICOS IFNG IGHM IGLL1 IKBKG IL1RN IL2RG IL36RN IL6ST IL7R IPO8 IRAK4 IRF2BP2 IRF8 ITCH JAGN1 JAK1 KIT KRAS LAMTOR2 LBR LIG4 LMBRD1 LRBA LRRC8A LYST MAD2L2 MDM4 MECOM MEFV MMAA MMAB MMACHC MMUT MPLKIP MSN MTRR MVK MYSM1 NABP1 NCAPG2 NDUFA6 NLRP1 NLRP3 NPM1 NR3C1 NRAS NUMA1 OTULIN PACS2 PCCA PCCB PDGFRA PDGFRB PGM3 PIK3CD PIK3CG PIK3R1 PML PNP PPIL1 PRDX1 PRF1 PRKAR1A PRKCD RAB27A RAC2 RAG1 RAG2 RARA RASGRP1 RBM8A RECQL4 RELB RFX5 RFXANK RFXAP RMRP RNF113A RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SASH3 SBDS SEC61A1 SF3B1 SH2D1A SLC27A4 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SMARCAL1 SMARCD2 SPI1 SPINK5 SREBF1 SRP19 SRP54 SRSF2 STAT1 STAT3 STAT5B STK4 STX11 STXBP2 TAFAZZIN TARS1 TBK1 TBL1XR1 TBX21 TCF3 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TICAM1 TLR3 TLR8 TOM1 TONSL TP53 TPP2 TRAC TRAF3 TSR2 UBE2A UNC13D UNC93B1 USB1 USP48 USP8 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 XIAP ZAP70 ZBTB16 ZNF341 ZNFX1 HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY ASXL1 CSF3R CXCR2 CXCR4 GATA1 IRF8 KIT NUMA1 RARA RPL18 RPL26 SF3B1 SRSF2 TET2 HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY ALG9 CEP120 CFAP410 COL11A1 COL2A1 DDRGK1 DNAJC21 DYM EXTL3 FGFR3 GPC3 GPC4 GPX4 GSC GUSB INTU MATN3 PCYT1A SBDS SLC26A2 SRP54 TRPV4 HP_ABNORMAL_GROWTH_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GROWTH_HORMONE_LEVEL AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C DSG1 GH1 GNAS GPR101 HPGD IGF1 KCNJ11 MARS2 MEN1 OTX2 PDE11A PMM2 POU1F1 PRKAR1A PROP1 ROBO1 SLCO2A1 TMEM67 HP_ABNORMAL_HAIRSHAFT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIRSHAFT_MORPHOLOGY AARS1 ASL ATP7A BCS1L CARS1 CDH3 CLCN6 DSG4 ERCC2 ERCC3 GAN GJA1 GTF2E2 GTF2H5 HEPHL1 KDF1 KRT25 KRT85 LMNA MARS1 MPLKIP NECTIN1 NECTIN4 PADI3 PEX1 PEX6 RNF113A SKIC2 SKIC3 SPINK5 ST14 TARS1 TCHH TGM3 TP63 WRN HP_ABNORMAL_HAIR_PATTERN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_PATTERN ABCC9 ABCD1 ACTB ACTG1 ADA2 ADARB1 ADNP AEBP1 AGPAT2 AIFM1 ALDOA ALG11 ALG12 ALG9 ALMS1 ALX1 ALX3 ANKRD11 ANKRD17 ANTXR1 AP2M1 APC APC2 ARHGEF2 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 B3GAT3 BICRA BLM BRAF BRCA1 BRD4 BSCL2 CAMK2A CAMTA1 CAV1 CAVIN1 CBL CCDC22 CCNK CD96 CDC42BPB CDH1 CDH2 CDH3 CDK13 CDK5 CHD2 CHN1 CHRNG CHST3 CIT CLCN3 CNBP CNOT3 COG5 COG7 COL17A1 CPLX1 CPOX CREBBP CTBP1 CUL4B CWC27 DEAF1 DHX30 DLX4 DMPK DOCK6 DOCK7 DPF2 DPH2 DPM2 DSG4 EBP ECM1 EDEM3 EFNB1 EMC1 EP300 ERMARD EXOSC2 FAT4 FGD1 FGFR2 FGFR3 FGFRL1 FKRP FLNA FOS FOXP1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 GATA1 GDF11 GDF3 GDF6 GJA5 GJA8 GMPPA GNB2 GNE GRIP1 H1-4 H3-3A H4C5 HDAC4 HDAC8 HEATR3 HERC2 HNF1B HPGD HR HRAS HS2ST1 HSPG2 HUWE1 HYOU1 IFIH1 IFT140 IGF1 IKBKG IL2RA INSR INTU IRX5 ITGB4 JARID2 KCNH1 KCNJ8 KCNN3 KCTD1 KDM1A KDM4B KDM5C KMT2A KNSTRN KRAS KREMEN1 KRT81 KRT83 KRT85 KRT86 LAMB3 LETM1 LIG4 LMNA LMX1B LRP2 LRPPRC LZTR1 MAB21L1 MADD MAFB MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBD5 MED12 MED13L MED27 MEGF8 MEIS2 MEOX1 MID1 MKRN3 MRAS MYH3 MYO18B NANS NBN NECTIN4 NELFA NEPRO NEXMIF NF1 NFIX NIPBL NOTCH2 NOTCH3 NOVA2 NPAP1 NR3C1 NRAS NSD1 NSD2 NSUN2 NUDT2 OGT PACS1 PADI3 PEPD PEX1 PEX19 PEX6 PGAP1 PHF8 PIGG PIGK PIK3C2A PIK3CD POLA1 POLR1B POLR1C POLR1D PORCN PPARG PPP1CB PPP1R15B PPP2R1A PPP2R3C PQBP1 PRDM13 PRKD1 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RALGAPA1 RASA2 RBL2 RBM10 RERE RHOBTB2 RIT1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 SALL4 SATB1 SCN1A SCNM1 SETD2 SETD5 SH2B1 SHOC2 SIN3A SLC12A6 SLC25A24 SLC2A1 SLC35C1 SLC6A1 SLC9A7 SLCO2A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMPD4 SNORD115-1 SNORD116-1 SOS1 SOS2 SOX11 SOX4 SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP SRY STAG2 STAMBP STT3A STXBP1 SVBP SYNGAP1 SYT1 TAF6 TBC1D20 TBC1D24 TBL1XR1 TBX15 TBX2 TCF12 TCF4 TCOF1 TECPR2 TFAP2A TGM3 THOC6 TMCO1 TP63 TRAC TRAF7 TRIO TRMT10A TRPM3 TSC1 TSR2 TTC5 TWIST1 TWIST2 UBE2A UBR1 UGP2 USB1 VPS13B VPS33A VPS51 WASHC5 WBP11 WNT4 WRN XRCC4 XYLT2 YY1 ZC4H2 ZIC1 ZMPSTE24 ZNF699 HP_ABNORMAL_HAIR_QUANTITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_QUANTITY AARS1 ABCA12 ABCA5 ABCC9 ABCD1 ABHD5 ACD ACVR1 ADA ADAMTS2 ADAMTS3 ADAT3 ADNP AEBP1 AFF3 AFF4 AGPAT2 AHSG AIMP2 AIP AIRE AKT1 ALDH18A1 ALDH6A1 ALG9 ALMS1 ALOX12B ALOXE3 ALX1 ALX4 AMMECR1 ANAPC1 ANKRD11 ANOS1 ANTXR1 AP1B1 APC2 APCDD1 APOE AR ARHGAP31 ARID1A ARID1B ARID2 ARL3 ARL6 ARMC5 ARSB ARX ASH1L ASL ASPRV1 ASXL1 ASXL2 ASXL3 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AXIN2 AXL B3GALT6 B3GLCT B4GALT7 BANF1 BANK1 BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL11B BCORL1 BCS1L BGN BICRA BLK BLM BMP1 BMP15 BMP2 BNC1 BPTF BRAF BRCA1 BRD4 BRF1 BSCL2 BTD BTK BTNL2 C18orf32 C3orf52 C4A C4B CACNA1C CACNA1G CAMK2B CANT1 CAPN15 CARS1 CASR CASZ1 CAV1 CAVIN1 CBL CBS CCBE1 CCDC141 CCDC28B CCDC47 CD28 CDC42 CDC42BPB CDH1 CDH11 CDH2 CDH23 CDH3 CDK10 CDK5 CDKL5 CDKN2A CDON CDSN CENPE CENPJ CEP152 CEP19 CEP290 CEP57 CERS3 CERT1 CFAP418 CHD5 CHD7 CHMP1A CHRNA7 CHSY1 CKAP2L CLCN3 CLDN1 CLMP CLN3 CLP1 CNOT2 CNP COG4 COG7 COL11A1 COL17A1 COL18A1 COL3A1 COL7A1 COPB1 COX5A CPOX CR2 CREBBP CRIPT CSGALNACT1 CSNK2A1 CST6 CSTB CTC1 CTCF CTLA4 CTNNB1 CTNND1 CTSC CUL4B CWC27 CWF19L1 CYB5A CYP11B1 CYP17A1 CYP19A1 CYP4F22 DCAF17 DCLRE1B DCLRE1C DDB1 DDB2 DEAF1 DHX30 DHX37 DKC1 DLK1 DLL4 DLX3 DLX4 DMRT3 DMXL2 DNA2 DNAJC21 DNASE1 DNMT3A DOCK6 DOCK7 DOLK DPAGT1 DPF2 DPH1 DPH2 DPH5 DSC3 DSG1 DSG4 DSP DUSP6 DVL1 DVL3 DYNC2LI1 EBF3 EBP ECM1 EDA EDA2R EDAR EDARADD EDN3 EDNRA EDNRB EHMT1 EIF5A ELMO2 EMC10 EOGT EP300 EPS8L3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ESCO2 ETS1 EVC EVC2 EXOSC2 EXT1 EXT2 EZH2 FAM111B FAS FAT4 FBXO28 FBXO31 FCGR2B FCGR3B FEZF1 FGF10 FGF17 FGF3 FGF8 FGFR1 FGFR2 FHL1 FIG4 FLI1 FLII FLNA FMR1 FOS FOXE1 FOXL2 FOXN1 FOXP3 FRA10AC1 FRAS1 FREM1 FRMD4A FSHB FSHR FTL FUT8 FZD2 GABRA3 GABRD GATA1 GATA4 GATAD2B GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLB1 GLI1 GLI3 GNA11 GNA14 GNAS GNB2 GNE GNPTAB GNRH1 GNRHR GNS GPC3 GPC4 GPR101 GSN GTF2E2 GTF2H5 GTPBP2 GUSB H3-3B H6PD HDAC4 HDAC8 HEATR3 HECTD4 HEPHL1 HFE HGSNAT HID1 HIVEP2 HLA-B HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HMGA2 HNRNPR HNRNPU HOXC13 HPD HPGD HR HRAS HRURF HS6ST1 HSD3B2 HSPA9 HSPG2 HTRA1 IDS IDUA IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IGF1R IGHG1 IKBKG IL10 IL1RAPL1 IL2RA IL2RG IL6ST IL7R INSR IPO8 IQSEC2 IRAK1 IRF5 IRF6 IRX5 ITGA3 ITGAM ITGB4 ITGB6 JARID2 JAZF1 JUP KANK2 KANSL1 KAT6B KATNB1 KCNAB2 KCNH1 KCNJ8 KCNK4 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDM4B KDM5C KDM6A KDSR KIAA0319L KIAA0753 KIF26A KIFBP KISS1 KISS1R KIT KLF13 KLHL24 KMT2A KMT2B KMT2D KNL1 KNSTRN KRAS KREMEN1 KRT10 KRT14 KRT16 KRT17 KRT25 KRT5 KRT6A KRT6B KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LEMD3 LHB LIFR LIG4 LIPH LIPN LMNA LMNB2 LORICRIN LPAR6 LRP1 LRPPRC LSS LTBP3 LTV1 LUZP1 LZTFL1 LZTR1 MAB21L1 MAF MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MBD5 MBTPS2 MC1R MCCC2 MDM2 MECP2 MED12 MED13 MED25 MED27 MEG3 MEN1 MESD MGAT2 MGP MITF MKKS MKS1 MMP1 MMP14 MMP2 MMP23B MOGS MPLKIP MRAS MRPS22 MSH4 MSTO1 MSX1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTX2 NAGLU NANS NBN NDST1 NDUFA12 NDUFA6 NDUFAF6 NECTIN1 NECTIN4 NEK1 NEPRO NEU1 NF1 NFIX NFKB1 NFKB2 NFKBIA NHLH2 NHP2 NIPAL4 NIPBL NKX6-2 NMNAT1 NOP10 NOTCH1 NOTCH2 NPHP1 NPM1 NR0B1 NR3C1 NR5A1 NRAS NSD1 NSDHL NSMF NSRP1 NSUN2 NTRK1 NUDT2 NUP107 NUP85 NUS1 NXN OCRL ODC1 OFD1 OGT ORC6 OTUD5 P4HA2 PACS1 PACS2 PADI3 PAPSS2 PARN PAX3 PCDHGC4 PCGF2 PCNT PDCD1 PDE11A PDGFRB PDPN PEPD PERP PEX1 PEX6 PEX7 PGM2L1 PHF6 PHF8 PHGDH PHIP PI4KA PIGL PIGN PIGU PIK3CD PIK3R1 PKP1 PLAA PLEC PLK4 PNPLA1 PNPLA6 POC1A POGZ POLR1B POLR1C POLR1D POLR3A POLR3H POP1 POR PORCN PPARG PPOX PPP1CB PPP1R15B PPP1R21 PPP2R3C PQBP1 PRDM16 PRIM1 PRKACA PRKACB PRKAR1A PRKCD PRKCZ PRKD1 PRKG2 PRMT7 PROK2 PROKR2 PRPS1 PRR12 PSMB8 PSMC3 PSMC3IP PSMD12 PTCH1 PTDSS1 PTEN PTPN11 PTPN22 PUF60 PXK PYCR1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAF1 RAG1 RAG2 RAI1 RASA2 RBBP8 RBM28 RBPJ RECQL RECQL4 RERE RHOA RIN2 RIPK4 RIT1 RMRP RNF113A RNF125 RNU12 RNU4ATAC ROR2 RPL10 RPL21 RPS23 RRAS RRAS2 RTEL1 RTL1 RUSC2 SASH1 SAT1 SATB2 SCAPER SCLT1 SCN4A SDCCAG8 SDR9C7 SEC23A SEMA3E SETBP1 SETD2 SETD5 SF3B4 SGSH SHOC2 SHROOM4 SKI SKIC2 SKIC3 SLC1A4 SLC25A12 SLC25A24 SLC27A4 SLC29A3 SLC30A2 SLC39A4 SLC7A7 SLCO2A1 SLITRK1 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMPD4 SMS SNAI2 SNRPE SNX14 SOS1 SOS2 SOX10 SOX11 SOX18 SOX4 SOX6 SOX9 SPATA5 SPEN SPIDR SPINK5 SPOP SPP1 SPRED2 SPRTN SPRY4 SPTBN1 SRA1 SRCAP SRD5A3 SREBF1 SRY ST14 STAG1 STAT4 STING1 STUB1 SUCLA2 SULT2B1 SUZ12 TAC3 TACR3 TAF1 TAF6 TALDO1 TARS1 TASP1 TBC1D20 TBCD TBCK TBX15 TBX3 TCOF1 TERC TERT TFAP2A TFE3 TGM1 TGM3 THUMPD1 TINF2 TLK2 TLR7 TMCO1 TMEM147 TMEM94 TNFAIP3 TNFRSF1B TNFSF4 TNIP1 TOE1 TOGARAM1 TP53 TP63 TRAC TRAF6 TRAIP TRAPPC10 TRAPPC9 TREX1 TRIM32 TRIM8 TRIO TRMT1 TRMT10A TRPS1 TRPV3 TSPEAR TSR2 TTC5 TTC7A TTC8 TTI2 TUBB TUBGCP2 TWIST1 TWIST2 TYMS UBA2 UBE2A UBE2L3 UBE3B UBE4B UBR1 UBR7 UFC1 UGDH UGP2 UQCC2 UQCRFS1 UROD UROS USB1 USP48 USP8 USP9X VAC14 VAMP7 VDR VPS13B VPS33A VPS37A WAC WARS1 WASHC4 WBP11 WDPCP WDR11 WDR19 WDR35 WDR81 WLS WNT10A WNT10B WNT4 WNT5A WRAP53 WRN WT1 WWOX XPA XPC XRCC4 XYLT1 ZBTB20 ZFPM2 ZIC2 ZMPSTE24 ZMYND11 ZNF292 ZNF341 ZNF407 ZNF699 ZNF711 ZNRF3 ZPR1 ZSWIM7 HP_ABNORMAL_HAIR_WHORL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_WHORL CAMK2A CAMTA1 CREBBP EP300 FLNA FOXP1 FRMPD4 HDAC4 HERC2 IFT140 IRX5 LMNA MAGEL2 MAN1B1 MED12 MED13L MED27 MKRN3 NPAP1 OGT POLA1 PPP2R1A PPP2R3C PWAR1 PWRN1 SNORD115-1 SNORD116-1 STAMBP TCF4 TRAF7 TRIO UBE2A UBR1 WRN YY1 HP_ABNORMAL_HALLUX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HALLUX_MORPHOLOGY ABCC9 ACAN ACTB ACVR1 ADNP AEBP1 AKT1 ALDH6A1 ASPH ATL3 ATP6V1B2 B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BHLHA9 BMP2 BMPR1B BPTF BUD23 C2CD3 CANT1 CCDC22 CDKL5 CHST11 CHST3 CHSY1 CLIP2 COL1A1 COL1A2 COL2A1 CPLANE1 CPLX1 CREBBP CSNK2A1 CTBP1 CTCF CWC27 DACT1 DLX5 DNAJC30 DNM1L DPM1 DYRK1A EBP EFNB1 EIF4A3 EIF4H ELN EP300 ERF ERMARD FAM20C FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FKBP6 FLI1 FLNA GATA4 GATA6 GBA1 GCH1 GDF5 GJA1 GJA5 GJA8 GLI3 GNAI1 GNE GPC4 GTF2I GTF2IRD1 GTF2IRD2 H4C9 HEATR3 HNRNPR HOXA13 HOXD13 HSPB1 HSPB8 HYLS1 IFT122 IFT172 IHH IL11RA IMPDH2 ITCH KAT6A KAT6B KCNH1 KCNJ8 KCNMA1 KCNN3 KIAA0753 KIF7 KMT2A KMT2B KMT2D LBR LETM1 LIMK1 LMBR1 LRP4 MAP3K20 MED12 MEGF8 MEIS2 METTL27 MFN2 MGP MLXIPL MYH3 NAA10 NBAS NCF1 NEK1 NELFA NFIX NKX2-5 NKX2-6 NKX3-2 NOG NONO NPR2 NPR3 NR4A2 NSD2 NUP107 NXN PCDHGC4 PDE4D PIGG PIGO PITX1 POLR3GL PPP2R1A PRDM5 PRKAR1A PSMB8 PTEN PTH1R PTHLH PTRH2 PUF60 PYCR2 RAB23 RBBP8 RFC2 RHOA ROBO1 ROR2 SALL1 SALL4 SATB2 SCARF2 SCNM1 SETBP1 SF3B4 SIAH1 SLC16A2 SLC29A3 SMARCA2 SMC1A SMO SMS SOX5 SOX9 SRY STX1A SUMF1 TAF6 TBC1D2B TBL2 TBR1 TBX1 TCF12 TMEM270 TNNT3 TP63 TPR TRPM3 TTI2 TWIST1 UBE2A USP7 USP9X VAC14 VPS37D WDPCP YY1 ZEB2 ZMIZ1 ZNF469 ZNF668 ZSWIM6 HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY ABCC9 ACTB ACVR1 BHLHA9 BMP2 C2CD3 CANT1 CREBBP CTCF DACT1 EFNB1 EP300 FGFR1 FGFR2 FIG4 FLI1 GATA4 GLI3 GPC4 HOXD13 HYLS1 IFT122 IHH KCNJ8 KIAA0753 KIF7 LMBR1 MAP3K20 NEK1 NXN PTHLH RAB23 ROR2 SALL1 SALL4 SATB2 SMO SUMF1 TBR1 TWIST1 VAC14 HP_ABNORMAL_HAND_BONE_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_BONE_OSSIFICATION ABCC6 ARSL B3GALT6 BGN BMPR1B CANT1 CBFB CHST3 COL2A1 DDR2 EBP ENPP1 EXOC6B EXTL3 FLNA FLNB GDF5 GPC3 GPC4 HOXA13 IHH LEMD3 LONP1 MATN3 MBTPS1 NANS PDE4D PIGV PTCH1 PTH1R RMRP SETD2 SLC10A7 SLC34A2 SLC35B2 SLC35D1 TONSL TRIP11 TRPV4 UFSP2 XYLT1 HP_ABNORMAL_HAND_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_MORPHOLOGY ABCA12 ABCC6 ABCC8 ABCC9 ABL1 ACAN ACOX1 ACP5 ACTB ACTG1 ACTL6B ACVR1 ADA2 ADAMTS10 ADAMTSL2 ADGRG6 ADNP AFF2 AFF4 AGO2 AGPAT2 AHI1 AHSG AIFM1 AIP AKT1 AKT3 ALDH18A1 ALDH1A2 ALG12 ALG13 ALG6 ALG9 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 AMER1 AMMECR1 ANAPC1 ANKRD11 ANKRD55 ANTXR2 AP1G1 APC APC2 ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARSB ARSL ARVCF ARX ASAH1 ASNS ASPH ASXL1 ASXL2 ASXL3 ATG7 ATL1 ATL3 ATN1 ATP2B1 ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCR BGN BHLHA9 BICD2 BICRA BLM BLTP1 BMP2 BMP4 BMP6 BMPR1B BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BTRC BUB1 BUB1B BUB3 BUD23 C2CD3 CACNA2D1 CAMK2G CAMTA1 CANT1 CASK CASZ1 CAV1 CAVIN1 CBFB CBL CBY1 CC2D2A CCBE1 CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCND2 CCNK CCNQ CD247 CD96 CDC42 CDC42BPB CDC45 CDC6 CDH11 CDH3 CDK10 CDK5 CDKL5 CDKN1C CDT1 CENPE CENPJ CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CFAP418 CHD7 CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST11 CHST3 CHSY1 CHUK CIBAR1 CILK1 CITED2 CKAP2L CLCN3 CLCN7 CLIP2 CNOT1 CNOT2 CNOT3 CNTN1 CNTNAP1 COASY COG1 COG4 COG5 COG7 COG8 COL10A1 COL11A1 COL11A2 COL17A1 COL25A1 COL27A1 COL2A1 COL3A1 COL7A1 COL9A1 COL9A2 COL9A3 COMP COMT COX4I1 CPLANE1 CPLX1 CREBBP CRIPT CRKL CRLF1 CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTDP1 CTNND2 CTSC CTSD CTSK CTU2 CUL3 CUL4B CUL7 CWC27 DACT1 DCHS1 DDR2 DDX11 DDX59 DEAF1 DHCR7 DHODH DHPS DLK1 DLL4 DLX3 DLX5 DLX6 DMXL2 DNA2 DNAJC30 DNMT3A DOCK6 DOK7 DONSON DPAGT1 DPF2 DPH1 DPH2 DPM1 DPYSL5 DSP DST DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EDA EDA2R EED EFNB1 EFTUD2 EGR2 EIF2AK3 EIF4A3 EIF4H ELN EMG1 EN1 ENPP1 EOGT EP300 EPB41L1 EPS15L1 ERCC4 ERCC6 ERCC8 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 EZH2 FAM149B1 FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBN1 FBN2 FBXL3 FBXO11 FBXO28 FBXW4 FERMT1 FGD1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP6 FLI1 FLII FLNA FLNB FLT4 FMR1 FN1 FOS FOXP2 FRA10AC1 FRAS1 FTSJ1 FZD2 GABBR2 GABRD GALNS GALNT2 GAN GATA1 GATA4 GATA5 GATA6 GDAP1 GDF1 GDF5 GGCX GJA1 GJA5 GJA8 GJB2 GJB6 GLB1 GLE1 GLI1 GLI2 GLI3 GMNN GNAO1 GNAS GNAS-AS1 GNB1 GNB2 GNPTAB GP1BB GPC3 GPC4 GPR101 GPX4 GRB10 GRIK2 GRIN1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB H19 H3-3B H4C3 HDAC4 HDAC6 HDAC8 HEATR3 HEPACAM HERC1 HERC2 HESX1 HFE HHAT HIC1 HINT1 HIRA HMGA2 HNRNPA1 HNRNPH1 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HPGD HRAS HSD17B4 HSPB1 HSPG2 HTT HUWE1 HYLS1 IDH1 IDS IFIH1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGF1 IGF1R IGF2 IHH IKBKG IL2RA IL2RB INPP5E INPP5K INPPL1 INSR INTU IQCE IQSEC2 IRF6 IRX5 ITGB4 ITGB6 JAG1 JMJD1C JPH1 JUP KAT6B KAT8 KATNIP KCNA1 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNK4 KCNN3 KCTD1 KDM1A KDM4B KDM5C KDM6A KDM6B KDR KIAA0586 KIAA0753 KIAA0825 KIDINS220 KIF15 KIF1A KIF21A KIF22 KIF5C KIF7 KIFBP KIT KL KLF13 KLHL15 KMT2A KMT2B KMT2D KNSTRN KPTN KRAS KRT1 KRT5 L1CAM LAMA3 LAMA5 LAMB3 LAMC2 LAS1L LBR LEMD3 LETM1 LHX3 LHX4 LIFR LIG4 LIMK1 LMBR1 LMNA LMNB2 LMX1B LONP1 LRP4 LRP5 LSS LTBP1 LTBP2 LTBP3 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2C1 MAP1B MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MAPT MASP1 MATN3 MBD5 MBTPS1 MBTPS2 MCM3AP MCTP2 MECOM MECP2 MED12 MED25 MEF2C MEG3 MEGF8 MEIS2 MEN1 METTL27 MGAT2 MGP MIA3 MIR140 MIR17HG MITF MKKS MKRN3 MKS1 MLXIPL MMP1 MMP14 MMP2 MMP23B MOGS MORC2 MPV17 MPZ MRAS MRPS28 MSL3 MTFMT MTOR MTX2 MUSK MYBPC1 MYCN MYH3 MYL11 MYMK MYMX MYOD1 MYSM1 NAA10 NAA20 NALCN NANS NARS2 NCF1 NDN NDRG1 NEB NEDD4L NEFL NEK1 NEK9 NELFA NEPRO NEUROD2 NEXMIF NF1 NFIX NGLY1 NHS NIN NIPBL NKX2-5 NKX2-6 NKX3-2 NOG NONO NOTCH1 NOTCH2 NPAP1 NPHP1 NPR2 NPR3 NRAS NSD1 NSD2 NSDHL NSUN2 NTNG1 NTRK1 NUP107 NUP37 NUP85 NXN OBSL1 OCA2 ODC1 OFD1 OGT OPA3 ORC1 ORC4 ORC6 OTUD5 P3H1 PACS1 PACS2 PAFAH1B1 PAH PAICS PALB2 PAX3 PCDHGC4 PCGF2 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PEX1 PEX6 PEX7 PGAP2 PGAP3 PHF21A PHF6 PHF8 PHGDH PHIP PHOX2A PHYH PI4KA PIBF1 PIEZO2 PIGB PIGF PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PKDCC PLAA PLAG1 PLK4 PLOD3 PLXND1 PMP22 PNKP PNPLA6 POC1A POLA1 POLR3A POR PORCN POU1F1 PPARG PPM1D PPP1R21 PPP2R1A PPP2R3C PQBP1 PRDM16 PRG4 PRIM1 PRKACA PRKACB PRKAR1A PRKCZ PRKDC PRKG2 PRMT7 PROP1 PRR12 PRX PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN2 PTPN22 PTRH2 PUF60 PUM1 PWAR1 PWRN1 QRICH1 RAB11B RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM10 RBM28 RBM8A RBPJ RECQL RECQL4 RERE RETREG1 REV3L RFC2 RFWD3 RIGI RIPK4 RIT1 RMRP RNF13 RNF2 RNF216 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RUNX2 RYR3 SALL1 SALL4 SAMD9 SATB1 SATB2 SBF2 SC5D SCAPER SCARF2 SCLT1 SCN1B SCN2A SCN9A SCNM1 SCUBE3 SCYL2 SDCCAG8 SDHB SDHC SEC24C SEM1 SEMA3E SEMA5A SETBP1 SETD2 SF3B2 SF3B4 SH2B1 SH3PXD2B SHANK3 SHH SHMT2 SHOX SIAH1 SIK1 SIK3 SIL1 SIM1 SIN3A SKI SLC10A7 SLC25A22 SLC25A24 SLC26A2 SLC2A10 SLC32A1 SLC34A2 SLC35B2 SLC35D1 SLC39A13 SLC52A2 SLC6A17 SLC6A9 SLC9A7 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOS1 SOS2 SOST SOX11 SOX4 SOX6 SOX9 SPARC SPART SPECC1L SPEN SPOP SPRED1 SPRED2 SPTLC2 SRCAP SRY STAG1 STAG2 STAMBP STAT4 STX16 STX1A SUFU SUZ12 SVBP SYNE1 TBC1D24 TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX22 TBX3 TBX4 TBX5 TCF12 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TELO2 TFAP2A TFAP2B TFE3 TGDS TGFBR1 TGM1 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM94 TNNI2 TNNT3 TOGARAM1 TONSL TOPORS TOR1A TP63 TPM2 TPR TRAIP TRAPPC2 TRAPPC9 TREX1 TRIM32 TRIM8 TRIO TRIP11 TRIP13 TRPM3 TRPS1 TRPV3 TRPV4 TRRAP TSR2 TTC21B TTC8 TUBA1A TUBB2B TUBB3 TWIST1 TWIST2 TXNDC15 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 UFD1 UFSP2 UNC80 USP7 USP9X VAC14 VPS13B VPS33B VPS35L VPS37D WAC WASHC5 WDPCP WDR11 WDR19 WDR35 WDR4 WDR73 WDR81 WIPI2 WNK1 WNT10B WNT5A WNT7A WRN WWOX XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZBTB20 ZC4H2 ZEB2 ZFPM2 ZIC1 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF141 ZNF292 ZNF423 ZNF462 ZNF699 HP_ABNORMAL_HARD_PALATE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HARD_PALATE_MORPHOLOGY AMMECR1 DVL1 GLI2 LRP5 PDE11A PRKAR1A PRR12 SHH SNRPB TP63 WNT5A ZBTB20 ZEB2 HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION ABCA1 ALMS1 APOA1 APOA5 APOB APOC3 APOE CELA2A CEP19 CETP CREB3L3 GALNT2 GPIHBP1 LCAT LIPA LIPC LMNA MSMO1 MTTP PPARG PSMB8 SLC25A13 SLC7A7 SMPD1 HP_ABNORMAL_HEAD_BLOOD_VESSEL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_BLOOD_VESSEL_MORPHOLOGY ABCC6 ABCG5 ABCG8 ANTXR1 APOB ARVCF ASAH1 BAZ1B BCL7B BEST1 BUD23 CLIP2 COL4A1 COMT CTSA CYP1B1 DARS1 DNAJC30 EFEMP1 EIF4H ELN ENPP1 F12 FKBP6 FUCA1 FZD4 GALC GLB1 GM2A GP1BB GTF2I GTF2IRD1 GTF2IRD2 HEXA HEXB HIRA HOXA1 IGFBP7 JMJD1C LDLR LDLRAP1 LIMK1 LMX1B LRP5 METTL27 MLXIPL MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MYOC NCF1 NDE1 NDP NEK1 NEU1 NF1 PCSK9 POLR3A PRPF3 PSAP PTDSS1 RFC2 RREB1 SEC24C SELENOI SMPD1 STX1A TBL2 TBX1 TMEM231 TMEM270 TULP1 UFD1 VPS37D YME1L1 HP_ABNORMAL_HEAD_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_MOVEMENTS AARS1 ALS2 CACNA1A CACNA1H DLAT EIF2AK2 FMR1 FUS GABRA1 GABRB3 GABRG2 GAMT GJC2 GPR88 HIBCH HSPD1 JRK KARS1 KIF1C LAMA1 LMNB1 MAPT NAA10 NKX6-2 PEX10 PI4KA PIGT PLP1 PRNP RNU12 SIGMAR1 SLC2A1 SPG11 SPTBN1 SPTLC1 TMEM63A UCHL1 VAMP1 VPS13A HP_ABNORMAL_HEART_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_MORPHOLOGY AARS1 AARS2 ABCA1 ABCC6 ABCC8 ABCC9 ABCD4 ABCG5 ABCG8 ABHD5 ABL1 ACAD8 ACAD9 ACADM ACADS ACADVL ACSL4 ACTA1 ACTA2 ACTB ACTC1 ACTG2 ACTN2 ACVR2B ADA2 ADAM17 ADAMTS10 ADAMTS19 ADAMTS3 ADAR ADAT3 ADCY5 ADK ADNP ADORA2A AEBP1 AFF4 AGGF1 AGK AGL AGO2 AGPAT2 AGR2 AHCY AHI1 AIP AKT3 ALDH18A1 ALDH1A2 ALG1 ALG12 ALG3 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALPK3 ALX1 ALX3 AMER1 AMMECR1 ANAPC7 ANK1 ANKRD1 ANKRD11 ANKS6 ANO5 APC2 APOB ARCN1 ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSB ARSK ARSL ARVCF ARX ASCC1 ASXL1 ASXL2 ATAD3A ATIC ATN1 ATP13A3 ATP1A2 ATP1A3 ATP2B1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP9A ATPAF1 ATPAF2 ATRX AUTS2 B2M B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BAG3 BAG5 BANF1 BAP1 BAZ1B BBS1 BBS2 BCAS3 BCL7B BCOR BCR BCS1L BGN BICC1 BICRA BIN1 BLTP1 BMP2 BMP6 BMPR1A BMPR2 BOLA3 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BSCL2 BTK BUB1 BUB1B BUB3 BUD23 C1QBP C2CD3 C4A CACNA1A CACNA1C CACNA1D CACNA1S CALCRL CALM2 CALM3 CAMK2A CANT1 CAP2 CAPN15 CARS1 CASK CASQ2 CASZ1 CAV1 CAV3 CAVIN1 CBL CBS CBY1 CC2D2A CCBE1 CCDC103 CCDC174 CCDC22 CCDC28B CCDC32 CCDC39 CCDC40 CCDC47 CCDC65 CCND1 CCND2 CCNO CCNQ CCR1 CD96 CDC42 CDC42BPB CDC45 CDH2 CDH23 CDK10 CDK13 CDK8 CDKL5 CDKN1C CDON CENPE CEP104 CEP120 CEP290 CEP41 CEP57 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP53 CFAP74 CFC1 CFTR CHD3 CHD4 CHD7 CHKB CHMP1A CHRM3 CHRNA1 CHRND CHRNG CHST14 CHST3 CHUK CIROP CISD2 CITED2 CKAP2L CLCN3 CLCN7 CLCNKB CLEC7A CLIC2 CLIP2 CLN3 CLPB COA5 COA6 COA8 COG1 COG6 COG7 COL11A1 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL7A1 COLQ COMT COQ2 COQ4 COQ7 COQ9 COX10 COX14 COX15 COX16 COX5A COX6B1 COX7B CPE CPLANE1 CPLX1 CPT1A CPT2 CRB2 CREBBP CRELD1 CRKL CRLS1 CRYAB CSGALNACT1 CSNK2A1 CSPP1 CSRP3 CTBP1 CTCF CTLA4 CTNNA3 CTU2 CUL3 CUX1 CWC27 CXCR2 CXCR4 CYP27A1 D2HGDH DACT1 DAXX DCAF8 DCHS1 DCPS DDX11 DDX3X DDX59 DDX6 DEF6 DES DGCR2 DGCR6 DGCR8 DHCR7 DISP1 DLD DLK1 DLL1 DLL4 DMD DMPK DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJB4 DNAJC19 DNAJC21 DNAJC30 DNAL1 DNAL4 DNASE1 DNASE1L3 DNMT3A DOCK6 DOHH DOLK DPF2 DPH1 DPH2 DPH5 DPM3 DPYSL5 DRC1 DSC2 DSE DSG1 DSG2 DSP DST DTNA DVL3 DYNC2I1 DYNC2LI1 DYRK1A DYSF DZIP1 EBP ECE1 ECHS1 EDNRA EFEMP2 EFL1 EFTUD2 EGFR EHMT1 EIF2AK3 EIF2AK4 EIF4H ELAC2 ELN EMD ENPP1 EOGT EP300 EPB42 EPCAM EPG5 EPHB4 ERAP1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERGIC1 ERMARD ESCO2 ESPN ESS2 EVC EVC2 EXOC2 EXT2 EXTL3 EYA4 FADD FAH FAM149B1 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASTKD2 FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXW11 FCGR2A FCGR2B FDFT1 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FHL2 FHOD3 FIBP FIG4 FKBP6 FKRP FKTN FLAD1 FLCN FLI1 FLNA FLNB FLNC FLT4 FMN2 FMR1 FNIP1 FOCAD FOS FOXC1 FOXC2 FOXE3 FOXF1 FOXH1 FOXJ1 FOXP1 FOXP2 FOXRED1 FRA10AC1 FRAS1 FREM1 FRMD5 FTCD FTO FUCA1 FUT8 FXN FZR1 G6PC3 GAA GABRD GALNS GANAB GAS1 GAS2L2 GAS8 GATA1 GATA3 GATA4 GATA5 GATA6 GATAD1 GATB GATC GBA1 GBE1 GCK GDF1 GDF3 GDF6 GET3 GJA1 GJA5 GJA8 GLA GLB1 GLI1 GLI2 GLI3 GLRX5 GMPPB GNAI2 GNAO1 GNB2 GNB5 GNE GNPAT GNPTAB GNS GP1BB GPC3 GPC4 GPC6 GPR101 GPX4 GRB10 GRIN1 GRM7 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUSB GYG1 GYS1 H3-3A H3-3B H4C3 H4C9 HAAO HACD1 HADH HADHA HADHB HAMP HAND2 HBA1 HBA2 HBB HCCS HCN4 HDAC4 HDAC8 HEATR3 HES7 HEXB HEY2 HFE HGD HGSNAT HIBCH HIRA HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGCL HNRNPA1 HNRNPA2B1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA13 HOXD13 HPS1 HRAS HSD11B2 HSD17B10 HSPA9 HSPG2 HYDIN HYLS1 HYMAI IDH1 IDH2 IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT74 IFT81 IGBP1 IGF1R IGF2 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R IL6 INPP5E INS INSR INTS1 INTU INVS IPO8 IRAK1 IRF4 IRF6 IRX5 ITGA7 ITK ITPA JAG1 JAG2 JAM3 JMJD1C JPH2 JUP KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KCNQ1OT1 KCTD1 KDM1A KDM3B KDM5B KDM6A KDR KIAA0586 KIAA0753 KIF11 KIF15 KIF20A KIF3B KIF7 KIFBP KLF1 KLHL24 KLHL41 KLRC4 KMT2A KMT2C KMT2D KRAS KYNU LACC1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB2 LAMB3 LAMC2 LAMP2 LARP7 LARS2 LBR LCK LDB3 LDLR LDLRAP1 LEMD2 LEMD3 LETM1 LIAS LIMK1 LIMS2 LMBRD1 LMNA LMNB1 LMOD1 LMOD2 LONP1 LOX LRP12 LRP2 LRP5 LRPPRC LRRC56 LSM11 LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LYST LZTFL1 LZTR1 MACF1 MAD2L2 MAF MAGEL2 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPKAPK5 MASP1 MAT2A MBTPS2 MC2R MCIDAS MCM10 MCTP2 MED11 MED12 MED13L MED23 MED25 MEFV MEG3 MEGF8 MEIS2 MEN1 MEOX1 METTL27 METTL5 MFAP5 MGAT2 MGME1 MGP MIB1 MICOS13 MICU1 MID1 MIF MIPEP MIR17HG MKKS MKS1 MLH1 MLH3 MLX MLXIPL MLYCD MMACHC MMP1 MMP14 MMP2 MMP21 MMP23B MMUT MNS1 MOGS MPDZ MPL MPLKIP MRAP MRAS MRPL3 MRPL44 MRPS14 MRPS22 MSH2 MSH6 MSX1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTO1 MTTP MTX2 MYBPC3 MYCN MYH11 MYH3 MYH6 MYH7 MYH8 MYL2 MYL3 MYLK MYLK2 MYMK MYO18B MYOCD MYOT MYOZ2 MYPN MYRF MYSM1 NAA10 NAA20 NADSYN1 NAE1 NAGA NAGLU NAXD NBAS NCAPG2 NCF1 NDE1 NDUFA1 NDUFA10 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN1 NEDD4L NEK1 NEK10 NEK8 NEK9 NELFA NEU1 NEUROD2 NEXN NF1 NFE2L2 NFIX NFS1 NHLRC2 NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NME5 NME8 NNT NOD2 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPHP3 NPPA NPR3 NR2F2 NRAS NSD1 NSD2 NSDHL NSMCE2 NUBPL NUP107 NUP155 NUP188 NXN OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OGT OPA1 OTUD5 OTUD6B OTX2 P4HA2 PACS1 PACS2 PAH PAK2 PALB2 PAM16 PARS2 PAX3 PBX1 PCCA PCCB PCGF2 PCNT PCSK9 PDE11A PDE6D PDGFRA PDHA1 PDPN PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGM1 PHGDH PHKA2 PHKG2 PHYH PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGV PIK3CA PIK3R2 PKD1 PKD1L1 PKD2 PKDCC PKP2 PLAGL1 PLCH1 PLD1 PLEC PLN PLOD1 PLVAP PLXND1 PMM2 PMS1 PMS2 PNKP PNPLA2 POGZ POLA1 POLG POLG2 POLR1A POLR3A POMGNT1 POMK POMT1 POMT2 POR PORCN PPA2 PPARG PPCS PPFIBP1 PPM1D PPP1CB PPP1R21 PPP2CA PPP2R5D PQBP1 PRDM13 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKACB PRKAG2 PRKAR1A PRKCZ PRKD1 PRKG1 PRR12 PRRX1 PRTN3 PRUNE1 PSEN1 PSEN2 PSMB8 PSMC1 PSMD12 PTCH1 PTEN PTF1A PTPN11 PTPN14 PTPN22 PUF60 PURA PYGL PYGM QRICH1 QRSL1 RAB23 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RARB RASA1 RASA2 RBCK1 RBM10 RBM20 RBM8A RBPJ RECQL4 RELN RERE RFC2 RFWD3 RFX7 RIGI RIPK4 RIT1 RLIM RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF135 RNF220 RNU4ATAC RNU7-1 ROBO1 ROBO4 ROR2 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAGD RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTL1 RTTN RYR1 RYR2 SAA1 SACS SALL1 SALL4 SAMHD1 SARDH SAT1 SATB1 SATB2 SBDS SCARB2 SCN1B SCN2A SCN5A SCO1 SCO2 SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC31A SELENON SEMA3E SEMA4A SERPINE1 SETBP1 SETD1A SETD2 SETD5 SF3B2 SF3B4 SFTPB SGCA SGCB SGCD SGCG SGO1 SGSH SH2B1 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIAH1 SIK1 SIK3 SIN3A SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A2 SLC12A3 SLC17A5 SLC19A2 SLC1A3 SLC22A5 SLC25A12 SLC25A20 SLC25A22 SLC25A24 SLC25A3 SLC25A36 SLC25A4 SLC29A3 SLC2A10 SLC30A10 SLC31A1 SLC32A1 SLC34A2 SLC35A2 SLC37A4 SLC38A3 SLC40A1 SLC4A1 SLC5A6 SLC6A6 SLC7A7 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SMPD1 SMPX SNIP1 SNRPB SNRPN SNX10 SNX14 SON SOS1 SOS2 SOX11 SOX2 SOX4 SOX6 SOX9 SP110 SPAG1 SPATA5 SPECC1L SPEF2 SPEG SPEN SPOP SPP1 SPRED1 SPRED2 SPTA1 SPTB SPTBN1 SQSTM1 SRCAP SREBF1 SRP54 SRY STAG1 STAG2 STAMBP STAR STAT1 STAT2 STAT3 STAT4 STIL STK36 STK4 STRA6 STRADA STX1A SUCLG1 SUFU SUPT16H SURF1 SVBP SVIL SYNE1 SYNE2 SYT1 SYT2 SZT2 TAB2 TAF1A TAF2 TAFAZZIN TALDO1 TANGO2 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX2 TBX20 TBX22 TBX3 TBX4 TBX5 TCAP TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TERT TET3 TFAP2B TFR2 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC6 THPO THSD1 THSD4 TIA1 TIAM1 TIMMDC1 TK2 TKFC TKT TLL1 TLR4 TMCO1 TMEM107 TMEM126A TMEM126B TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM43 TMEM53 TMEM67 TMEM70 TMEM94 TMPO TMTC3 TNFRSF11A TNFRSF1A TNFSF11 TNNC1 TNNI3 TNNI3K TNNT1 TNNT2 TNXB TOGARAM1 TOM1 TOP3A TOPORS TP63 TPI1 TPK1 TPM1 TPM2 TPM3 TPR TRAF3IP2 TRAF7 TRAIP TRAPPC11 TRDN TREX1 TRIM37 TRIM8 TRIO TRIP13 TRIP4 TRMT10C TRMT5 TRNT1 TRRAP TSC1 TSC2 TSFM TSR2 TTC12 TTC26 TTC7A TTC8 TTN TTPA TTR TUBG1 TULP3 TWIST1 TWNK TXNDC15 TXNL4A TXNRD2 UBAC2 UBE2A UBE2T UBE3B UBE3C UBE4B UBR1 UBR7 UCP2 UFC1 UFD1 UMPS UPF3B UQCRC2 UQCRFS1 USP18 USP9X VAC14 VARS2 VCL VCP VEZF1 VHL VIPAS39 VPS13A VPS13B VPS33A VPS33B VPS35L VPS37D VWF WAC WARS2 WASHC5 WBP11 WDPCP WDR26 WDR35 WDR37 WFS1 WLS WNT4 WT1 XK XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YARS2 YY1 YY1AP1 ZBTB7A ZDHHC9 ZEB2 ZFP57 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZMYND10 ZNF341 ZNF423 ZNF462 ZNF469 ZNF668 ZNF687 ZNF699 HP_ABNORMAL_HEART_RATE_VARIABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_RATE_VARIABILITY CACNA1D CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GALC GAS1 GLI2 MADD NODAL PHOX2B PLCH1 PSAP PTCH1 SHH SIX3 SMC1A STAG2 STIL TDGF1 TGIF1 ZIC2 HP_ABNORMAL_HEART_SOUND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_SOUND ABCG5 ABCG8 ACTC1 ADAMTS19 ADNP APOB BICRA BMPR2 CIC CITED2 CWC27 DDX6 FBN1 FIG4 FOCAD GAA GATA4 GATA5 GATA6 GNPTAB IDS LDLR LDLRAP1 MED12 MYH6 MYH7 NKX2-5 NOTCH1 PCSK9 PEX2 PRKAR1A RBBP8 SDHD SLC25A4 SMAD6 SMAD9 SPTBN1 TBX20 TLL1 TMEM260 TWIST1 HP_ABNORMAL_HEART_VALVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY ABCC6 ABCC9 ACSL4 ACTA2 ACTB ACTC1 ADA2 ADAMTS19 ADNP AEBP1 AGGF1 AGO2 AGR2 ALG5 ALG9 AMMECR1 ANK1 ARF1 ARFGEF2 ARHGAP31 ARSK ARVCF ATP6V1E1 ATRX B3GALT6 B3GAT3 B3GLCT BAZ1B BBS2 BCAS3 BCL7B BCOR BGN BICC1 BIN1 BRAF BRCA1 BRCA2 BRF1 BRIP1 BUD23 CAPN15 CASZ1 CBL CBS CCDC22 CCNQ CHD7 CHRNG CHST14 CHST3 CITED2 CLCN7 CLIC2 CLIP2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COMT COX7B CPLX1 CREBBP CTBP1 DACT1 DAXX DCHS1 DDX3X DLL4 DNAJB11 DNAJC30 DNASE1L3 DOCK6 DOHH DPF2 DPYSL5 DSE DYNC2LI1 DYRK1A DZIP1 EDNRA EIF4H ELN ENPP1 EOGT EP300 ERCC4 ERMARD EVC EVC2 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FDFT1 FGFR1 FIBP FKBP6 FLNA FLT4 FMN2 FMR1 FOXE3 FOXF1 FREM1 GABRD GALNS GANAB GATA1 GATA4 GATA5 GATA6 GBA1 GJA1 GJA5 GJA8 GLA GLB1 GLI1 GNB2 GNPTAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H3-3B HCCS HCN4 HEXB HEY2 HGD HIRA HLA-B HNRNPH2 HNRNPK HRAS HSPG2 IDS IDUA IFIH1 IFT122 IFT140 IL12B IPO8 JMJD1C JPH2 KANSL1 KAT5 KCNAB2 KCNE5 KCNJ8 KIF3B KIF7 KRAS LETM1 LIMK1 LMNA LOX LRPPRC LTBP3 LUZP1 LZTR1 MAD2L2 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAT2A MCTP2 MED12 METTL27 MFAP5 MLX MLXIPL MMP14 MMP2 MMP21 MMP23B MRAS MTX2 MYCN MYH11 MYH3 MYH6 MYH7 MYLK MYOCD MYPN MYRF NAA10 NADSYN1 NCF1 NDUFB11 NEDD4L NELFA NF1 NFE2L2 NFIX NKX2-5 NKX2-6 NONO NOTCH1 NOTCH3 NPR3 NRAS NSD2 NXN OGT PACS1 PALB2 PCGF2 PDPN PIGG PIGL PKD1 PKD2 PLCH1 PLD1 PLOD1 PLXND1 POLA1 POLG POLR3A PPM1D PPP2R5D PRDM16 PRDM5 PRG4 PRKACA PRKACB PRKAR1A PRKCZ PRKG1 PTPN11 PUF60 RAC1 RAD51 RAD51C RAF1 RAI1 RASA2 RBPJ RERE RFC2 RFWD3 RIGI RIT1 RNF135 ROBO1 ROBO4 ROR2 RPL26 RPL5 RPS6KA3 RRAS RRAS2 RREB1 RYR1 SACS SALL1 SEC24C SELENON SEMA3E SGO1 SH2B1 SH3PXD2B SKI SKIC2 SKIC3 SLC25A24 SLC29A3 SLC34A2 SLC6A6 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA4 SMC3 SMPD1 SNIP1 SNX10 SOS1 SOS2 SPEG SPEN SPRED1 SPRED2 SPTBN1 SRY STX1A TAB2 TAF2 TBL2 TBX1 TBX20 TCIRG1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLL1 TMEM260 TMEM270 TMEM70 TMEM94 TMTC3 TNFSF11 TNXB TPM1 TPM2 TPM3 TRAF7 TTN TWNK UBE2T UBE4B UFD1 VPS13B VPS35L VPS37D VWF WAC WASHC5 WT1 XRCC2 XYLT1 XYLT2 YY1 YY1AP1 ZEB2 ZIC3 ZMPSTE24 ZNF462 ZNF469 ZNF699 HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY ABCA3 ABCC6 ABCG5 ABCG8 ACAD8 ACTA2 ACTB ACTC1 ADA ADAMTS10 ADAMTS19 ADAMTSL2 ADK ADNP AGA AGO2 AGR2 AIP AKT3 ALDH18A1 ALG9 ALPK3 AMER1 ANKRD11 ANKS6 APOB ARF1 ARFGEF2 ARHGAP31 ARL6 ARPC4 ARSB ARSK ATP11A ATP6AP1 ATP6V1E1 ATRX B3GALT6 B3GLCT B4GALT7 BAG3 BANF1 BAZ1B BCL7B BCOR BCR BMP2 BPTF BRAF BUB1 BUB1B BUB3 BUD23 C12orf57 C4A CBL CCDC22 CCDC32 CCND2 CCNQ CCR1 CDC42 CDH2 CEP57 CHD3 CHD7 CHST14 CHST3 CIC CIROP CITED2 CLIC2 CLIP2 COA6 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COX6B1 COX7B CREBBP CRKL CRYAB CSGALNACT1 CTCF CUL3 D2HGDH DAXX DCHS1 DDX3X DLL4 DNAJC30 DNAL1 DNMT3A DOCK7 DOHH DPH1 DPH2 DPP9 DPYSL5 DSE DSG1 DSP DTNA DVL3 DYRK1A DZIP1 EBP EFEMP2 EHMT1 EIF4H ELN ENPP1 EP300 ERAP1 ERMARD EXOSC5 FAM13A FAR1 FAS FAT4 FBLN5 FBN1 FBN2 FBXW11 FGFR1 FHL1 FHOD3 FKBP14 FKBP6 FKTN FLI1 FLNA FLNC FLT4 FNIP1 FOXE3 FOXF1 G6PC3 GATA4 GATA5 GATA6 GBA1 GDF1 GJA1 GJA5 GJA8 GLA GLB1 GNPTAB GNPTG GNS GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 HAAO HADHA HADHB HCCS HCN4 HEATR3 HEPHL1 HEXB HEY2 HIVEP2 HLA-B HRAS IDUA IFIH1 IFNGR1 IGFBP7 IL10 IL12A IL12A-AS1 IL23R IL6ST INVS IRX5 KANSL1 KAT6A KCNH1 KDM6A KIF20A KIFBP KLHL24 KLRC4 KRAS LDLR LDLRAP1 LEMD2 LIMK1 LMNA LMOD2 LOX LRP4 LRPPRC LTBP1 LTBP2 LTBP3 LZTR1 MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAT2A MCTP2 MEFV MEGF8 METTL27 MFAP5 MGP MLXIPL MRAS MTX2 MUC5B MYCN MYH11 MYH6 MYH7 MYL2 MYLK MYPN MYSM1 NCAPG2 NCF1 NDUFB11 NEDD4L NEK1 NEK8 NEK9 NF1 NKAP NKX2-5 NKX2-6 NONO NOTCH1 NOTCH2 NPHP3 NR2F2 NRAS NRXN1 ODAD1 OTUD5 PARN PCGF2 PCSK9 PDSS1 PEX2 PGAP1 PIK3R2 PKD1 PLD1 PLXND1 POLG POLR3A PPP1CB PRDM16 PRDM5 PRG4 PRKAR1A PRKG1 PSMD12 PTPN11 PUF60 PYROXD1 RAB23 RAD21 RAF1 RFC2 RIGI RIT1 RMRP RNF135 RNF2 ROBO4 RPL27 RPL3L RPL5 RPS19 RPS6KA3 RRAS2 RSPRY1 RTEL1 SARDH SCN1B SCN4A SCN5A SDHD SFTPA1 SFTPA2 SFTPC SGO1 SHOC2 SKI SKIC2 SKIC3 SLC22A5 SLC25A24 SLC29A3 SLC2A10 SLC31A1 SLC35A1 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA4 SMC3 SMC5 SNIP1 SON SOS1 SOS2 SOX5 SPEG SPRED1 SPRED2 SPTBN1 STAT4 STN1 STRA6 STX1A SYT2 SZT2 TAB2 TAF2 TAFAZZIN TBCK TBL2 TBX2 TBX20 TERC TERT TGFB2 TGFB3 TGFBR1 TGFBR2 THSD1 THSD4 TLL1 TLR4 TLR7 TMEM270 TMTC3 TNNC2 TNNI3 TNNT2 TPM1 TRAF7 TRIP13 TTC26 TTR TWIST1 TWNK TXNDC15 UBAC2 UBE2A VPS33A VPS35L VPS37D VWF WAC WASHC5 WDR37 WNT4 WT1 XYLT1 XYLT2 YY1AP1 ZEB2 ZIC3 ZMPSTE24 ZNF148 ZNF341 ZNF469 ZNF699 HP_ABNORMAL_HELIX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HELIX_MORPHOLOGY AASS ABCA12 ACBD5 ACTB ADAMTSL2 AFF2 AFF4 AGO2 ALOX12B ALOXE3 AMER1 AMMECR1 ARVCF ASPRV1 ASXL2 BCL11A BCOR BHLHA9 BICRA BMP2 BRAF CBL CDH2 CDK13 CDKN1C CHD7 CHUK CLIC2 COL2A1 COMT CPOX CPT2 CREBBP CSNK2A1 CSPP1 CYP4F22 DACT1 DDX3X DDX6 DHX30 DIS3L2 DOCK7 DSP DYRK1A EBF3 EBP EDEM3 EDN1 EFTUD2 EP300 FANCB FBN1 FBN2 FGFR2 FGFR3 FN1 FOXP1 FOXP2 FRAS1 FREM1 FZD2 GDF11 GNAI3 GNB1 GP1BB GPC3 GPC4 H4C5 HIRA HOXA2 HS2ST1 HSPG2 IGF2 JMJD1C JUP KANSL1 KCNQ1 KCNQ1OT1 KCTD1 KIAA0586 KMT2D KRAS LIPN LMNA LONP1 LZTR1 MAP1B MAP2K1 MAP2K2 MAPRE2 MED12 MRAS NAA10 NARS1 NDP NF1 NFIA NFIX NIPAL4 NIPBL NR2F1 NRAS NSD2 PAH PBX1 PEX1 PEX2 PEX5 PGAP2 PGAP3 PGM2L1 PIGA PIGB PIGL PIGN PIGO PIGS PIGV PIGW PIGY PLCB4 PPP1CB PPP2R3C PTPN11 PYCR1 PYCR2 RAF1 RASA2 RB1 RECQL4 RIT1 RPS23 RRAS RRAS2 RREB1 RTTN SALL1 SCARF2 SCNM1 SDR9C7 SEC24C SEMA3E SETBP1 SIN3A SLC16A2 SLC25A12 SLC26A2 SLC6A8 SMC1A SMS SOS1 SOS2 SPECC1L SPOP SPRED2 STEEP1 SULT2B1 SUPT16H TAF1 TASP1 TBX1 TBX2 TCF3 TCF4 TCTN3 TFAP2A TGFB3 TGM1 TMEM94 TRIO TUBB TWIST1 UFD1 VPS51 XYLT2 ZMIZ1 ZMPSTE24 ZMYND11 ZNF462 HP_ABNORMAL_HEMATOCRIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMATOCRIT BPGM EGLN1 EPAS1 EPO EPOR HBA1 HBA2 HBB HSCB JAK2 KLF1 SH2B3 VHL HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY ALDH1A2 CDC42BPB GATA6 GNE NDUFAF5 NR2F2 WT1 HP_ABNORMAL_HEMOGLOBIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN ABCC8 ADA2 APPL1 ATRX BCL11A BLK BLM BSCL2 CEL CELA2A CYB5A CYB5R3 DMXL2 DNAJC21 DNAJC3 EPOR GATA1 GCK HBA1 HBA2 HBB HBD HBG1 HBG2 HEATR3 HNF1A HNF4A INS KCNJ11 KLF1 KLF11 MDM4 MPL MTX2 NARS2 NEUROD1 NSMCE2 PAX4 PDX1 PRPS1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS SLC5A2 SRP54 THPO TRMT5 TSR2 WRN YIPF5 ZBTB7A HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION AMN CUBN KCNN4 KLF1 MADD PGK1 PIEZO1 PKLR SLC4A1 HP_ABNORMAL_HEPATIC_ECHOGENICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEPATIC_ECHOGENICITY AHCY FOCAD LIPA PCK1 SLC37A4 HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION BCS1L BMP6 CP FARS2 FOCAD FTH1 FTL GLRX5 HBB PIGA SLC11A2 STEAP3 HP_ABNORMAL_HIP_JOINT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HIP_JOINT_MORPHOLOGY AARS1 ABCC6 ABCC9 ACTA1 ADAMTS2 ADAMTSL2 AEBP1 AFF3 AFF4 AGRN AKT1 ALDH18A1 ALG9 ANKRD55 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARNT2 ARSB ARSK ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GALT6 B3GAT3 BGN BICD2 BICRA BIN1 BRCA1 BRCA2 BRD4 BRIP1 C12orf57 CANT1 CCDC47 CCDC8 CCN6 CD247 CD96 CDON CENPJ CEP120 CEP85L CFL2 CHAT CHD4 CHRM3 CHRNG CHST3 CLCN3 CLTCL1 COG1 COL10A1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A3 COLEC10 COLEC11 COMP COX8A CPLX1 CRTAP CSGALNACT1 CSPP1 CTBP1 CUL7 DDR2 DHCR7 DHODH DISP1 DLL1 DNAJC21 DPYSL5 DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNLT2B EBP ECEL1 EFEMP2 EIF2AK3 EIF4A3 ELN ENPP1 ERCC1 ERCC4 ERCC8 ERGIC1 ERLIN2 EVC EVC2 EXOC6B EXOSC3 EXT1 EXT2 EXTL3 EYA1 F8 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBLN5 FBN1 FBN2 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKRP FLI1 FLNA FLNB FOXH1 FUT8 FZD2 GARS1 GAS1 GATA1 GDF5 GEMIN4 GET4 GJA1 GLB1 GLI2 GLI3 GLRA1 GLRB GMPPB GNB2 GNPTAB GORAB GPC3 GPC4 GPHN GPX4 GSC GUSB HACD1 HACE1 HDAC4 HDAC8 HK1 HNRNPH1 HOXA11 HPRT1 HS2ST1 HSPG2 HYAL1 IARS2 IFIH1 IFT52 IL2RA IL2RB IL6ST INPP5K INPPL1 IPO8 ITGA7 KANSL1 KAT6B KDM6A KIAA0586 KIAA0753 KIF22 KLHL41 KMT2D LAMA5 LARGE1 LETM1 LGI4 LMNA LMNB2 LMOD3 LONP1 LRP4 LTBP1 LYSET MACF1 MAD2L2 MAP3K20 MAP3K7 MASP1 MATN3 MBTPS2 MCTP2 MKKS MMP2 MUSK MYH3 MYH8 MYL1 MYL11 MYL2 MYO18B MYO9A NAA10 NALCN NANS NEB NEPRO NFATC2 NFIX NGLY1 NIPBL NKX3-2 NODAL NRCAM NSD1 NSD2 NSDHL OBSL1 OCRL OSGEP OSTM1 P4HTM PAFAH1B1 PALB2 PAM16 PI4KA PIEZO2 PIGA PIGL PIGY PLCH1 PLOD1 PNPT1 POLR1A POLR3B POMT1 POMT2 PORCN PPP2R5D PTCH1 PTEN PTH1R PTPN2 PTPN22 PTRH2 PUF60 PYCR1 PYCR2 RAB23 RAB33B RAD21 RAD51 RAD51C RBM8A RECQL4 RFWD3 RINT1 RMRP RNU4ATAC RPS15A RUNX2 RYR1 RYR3 SCN4A SCYL2 SEC31A SELENON SERPINF1 SETD2 SF3B4 SHH SHROOM4 SIL1 SIX1 SIX3 SLC10A7 SLC12A2 SLC18A3 SLC25A1 SLC26A2 SLC2A10 SLC35A2 SLC35A3 SLC35D1 SLC5A7 SLC6A5 SLC6A9 SLX4 SMAD3 SMARCAL1 SMC1A SMC3 SMO SMOC1 SNAP25 SNRPB SOX9 SPARC SPEG STAG2 STAT4 STIL SYT2 TBCD TBX15 TBX4 TCTN3 TDGF1 TELO2 TFE3 TGFB2 TGFBR2 TGIF1 THOC2 THRA TIMM22 TMEM67 TNNT1 TNNT3 TONSL TOR1A TPM2 TPM3 TRAPPC12 TRIM8 TRIP11 TRPV4 TTN UBA1 UBA2 UBE2T UBE3B UFSP2 UNC80 USP9X VAC14 VAMP1 VPS33A WDR19 WDR35 WNT5A WNT7A XRCC2 XYLT1 YWHAE ZBTB20 ZC4H2 ZIC2 ZIC3 ZMPSTE24 ZNF407 ZNF469 HP_ABNORMAL_HOMEOSTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HOMEOSTASIS AARS2 ABCA12 ABCA3 ABCA4 ABCB4 ABCC2 ABCC6 ABCC8 ABCC9 ABCD4 ABL1 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACAT2 ACP5 ACSF3 ACSL5 ACTA1 ACTB ACTC1 ACTG1 ACTN4 ADA ADA2 ADAMTS13 ADAMTS2 ADAMTS3 ADAR ADARB1 ADCY3 ADRB3 AEBP1 AFF4 AGBL1 AGBL5 AGGF1 AGK AGL AGPAT2 AGR2 AGRP AGXT AHCY AHI1 AHR AIFM1 AIP AIRE AK2 AKT1 AKT2 ALAS2 ALB ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG14 ALG3 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPK1 ALPK3 ALPL AMACR AMPD1 AMPD2 AMPD3 ANAPC1 ANGPT1 ANGPT2 ANK1 ANKFY1 ANKH ANKRD55 ANLN ANTXR1 ANTXR2 AP1S3 APC2 APOA1 APOA5 APOE APOL1 APPL1 APRT AQP2 AR ARHGAP24 ARHGDIA ARHGEF18 ARL2BP ARL3 ARL6 ARMC5 ARNT2 ARSL ASAH1 ASL ASPRV1 ASS1 ASXL1 ASXL2 ATAD3A ATIC ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2A1 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATPAF1 ATPAF2 ATRX ATXN3 AUH AVP AVPR2 B2M B4GALT1 BACH2 BAP1 BAZ1B BBS1 BBS2 BBS9 BCAP31 BCKDHA BCKDHB BCL10 BCL2 BCL6 BCL7B BCOR BCR BCS1L BEST1 BIN1 BIRC3 BLK BLM BLNK BLTP1 BMP2 BMP6 BMPER BMPR1A BOLA3 BRAF BRAT1 BRCA1 BRCA2 BRD4 BSCL2 BSND BTD BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C1QB C1QBP C2orf69 C3 C4A CA12 CA2 CA4 CA5A CACNA1A CACNA1C CACNA1D CACNA1S CAD CALCRL CALR CAMKMT CAMTA1 CARS1 CARS2 CARTPT CASK CASP10 CASR CAT CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC28B CCDC88A CCN6 CCND1 CCR1 CD244 CD247 CD27 CD28 CD2AP CD320 CD3D CD3E CD46 CD55 CD70 CD79A CD79B CDAN1 CDC42 CDH11 CDH23 CDHR1 CDK5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEBPE CEL CELA2A CELSR1 CEP19 CEP57 CERKL CFAP418 CFH CFHR1 CFHR3 CFI CFTR CHCHD10 CHD7 CHEK2 CHRNA1 CHRND CHRNG CIC CIDEC CIITA CISD2 CITED2 CLCA4 CLCF1 CLCN2 CLCN6 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLEC7A CLIP2 CLMP CLPB CLRN1 CNBP CNGA1 CNGB1 CNOT1 COA6 COA8 COG6 COG7 COG8 COL11A1 COL1A1 COL1A2 COL2A1 COL4A3 COL5A1 COL5A2 COL8A2 COQ2 COQ4 COQ8A COQ8B COQ9 CORIN COX10 COX11 COX14 COX15 COX16 COX20 COX4I1 COX5A COX6A2 COX6B1 COX8A CP CPA1 CPE CPN1 CPOX CPS1 CPSF3 CPT1A CPT2 CR2 CRAT CRB1 CRB2 CRLF1 CRLS1 CRX CSGALNACT1 CTC1 CTDP1 CTLA4 CTNNB1 CTNS CTRC CTSA CUL3 CYB561 CYBA CYBB CYBC1 CYC1 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP27A1 CYP4F22 CYP4V2 DAAM2 DARS2 DBH DBT DCAF17 DCHS1 DCLRE1C DCTN4 DDB2 DDC DDR2 DEF6 DGUOK DHCR7 DHDDS DHPS DHX30 DHX38 DIS3L2 DISP1 DKC1 DLAT DLD DLK1 DLL1 DMXL2 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNASE1L3 DNASE2 DNM1L DNM2 DNMT1 DNMT3B DOCK2 DOHH DOK7 DOLK DPAGT1 DPP9 DPYS DSP DST DTYMK DUOX2 DUOXA2 DUT DUX4 DUX4L1 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1B DYSF EARS2 EBP ECHS1 EDA EDA2R EDAR EDARADD EDNRA EFL1 EGFR EHHADH EIF2AK3 EIF2AK4 EIF2B1 EIF2S3 EIF4H ELAC2 ELANE ELF4 ELMO2 ELN ELP1 EMP2 ENG ENPP1 EPB41 EPB42 EPCAM EPG5 EPHB4 ERAP1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 ETFA ETFB ETFDH ETHE1 EYS F12 F5 F8 FAH FAM161A FARS2 FARSB FAS FASLG FASTKD2 FAT4 FBN1 FBP1 FBXL4 FCGR2A FCGR3B FDX2 FECH FGA FGB FGF20 FGF8 FGFR1 FGFR3 FGG FH FIBP FIG4 FIP1L1 FKBP6 FLNB FLNC FLT1 FLT4 FMR1 FN1 FOCAD FOS FOXA2 FOXC2 FOXF1 FOXG1 FOXH1 FOXP1 FOXP3 FOXRED1 FRG1 FRMD4A FSCN2 FSHR FUCA1 FUT8 FUZ FXN FZD4 G6PC1 G6PD GAA GABRA2 GABRA3 GALC GALK1 GALT GAPVD1 GAS1 GATA1 GATA2 GATA3 GATA4 GATA6 GATB GATC GATM GBA1 GBE1 GCDH GCGR GCH1 GCK GCLC GFER GFI1 GFM1 GFM2 GFRA1 GH1 GHR GHRL GHSR GJA1 GJB3 GJB4 GJC2 GK GLA GLB1 GLE1 GLI2 GLI3 GLIS3 GLRX5 GLUD1 GLYCTK GNAQ GNAS GNB2 GNPTAB GOSR2 GOT2 GPC3 GPC4 GPC6 GPD2 GPR101 GPR161 GPR35 GRB10 GREB1L GRHL2 GRIP1 GSN GSS GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUCA1B GUCY2C GUSB GYG1 GYPC GYS2 H19 H4C5 HADH HADHA HADHB HAMP HAVCR2 HBA1 HBA2 HBB HCFC1 HDAC8 HEATR3 HELLPAR HEPHL1 HERC1 HERC2 HESX1 HFE HGD HGSNAT HIBCH HJV HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMBS HMGA1 HMGA2 HMGCL HMGCS2 HMOX1 HNF1A HNF1B HNF4A HNRNPK HPD HPDL HPGD HRAS HS3ST6 HS6ST2 HSD11B1 HSD11B2 HSD17B10 HSD3B2 HSPD1 HSPG2 HTR1A HTRA2 HYMAI HYOU1 IARS1 IARS2 IBA57 IDH2 IDH3A IDH3B IER3IP1 IFIH1 IFNG IFNGR1 IFT140 IFT172 IFT80 IFT88 IGF1 IGF1R IGF2 IGF2BP2 IGFALS IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL18BP IL1R1 IL1RN IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL6R IL6ST IL7R IMPDH1 IMPG1 IMPG2 INF2 INPPL1 INS INSR INVS IRAK1 IRF2BP2 IRF4 IRF8 IRS1 IRS2 ISCA1 ISCU ITCH ITGA3 ITGA8 ITK ITPR2 ITPR3 IVD IYD JAG1 JAK2 KARS1 KAT6A KCNE3 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ18 KCNJ5 KCNN4 KCNQ1 KCNQ1OT1 KCNQ2 KCTD1 KDF1 KDM6A KDSR KHK KIAA0586 KIAA1549 KIF11 KIF1A KIF1B KIF20A KIF7 KIT KIZ KLF1 KLF11 KLHL3 KLHL40 KLHL41 KLHL7 KLRC4 KNG1 KNSTRN KPTN KRAS KRT13 KRT14 KRT18 KRT2 KRT5 KYNU L2HGDH LACC1 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LARS1 LARS2 LBR LBX1 LCK LCT LDHA LEMD2 LEMD3 LEP LEPR LETM1 LHX1 LHX3 LHX4 LIAS LIFR LIG3 LIG4 LIMK1 LIPA LIPC LIPE LIPN LIPT1 LIPT2 LMBRD1 LMF1 LMNA LMNB1 LMNB2 LMOD3 LONP1 LPIN1 LPIN2 LRAT LRBA LRP5 LRP6 LRPPRC LRRC8A LSM11 LTBP4 LYRM4 LYRM7 LYST LYZ LZTR1 MADD MAFA MAGEL2 MAGI2 MAK MALT1 MAP2K1 MAP2K2 MAPK1 MAPK8IP1 MAPRE2 MARS1 MBTPS2 MC2R MC4R MCCC1 MCCC2 MCEE MCM10 MDFIC MDH2 MECOM MECP2 MED12L MEF2A MEFV MEG3 MEN1 MERTK METTL27 MFN2 MFRP MGAT2 MIA3 MICOS13 MICU1 MIF MIPEP MKKS MKRN3 MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMP14 MMP2 MMUT MOG MOGS MPC1 MPI MPL MPV17 MRAP MRAS MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRPS34 MRPS7 MSL3 MST1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFR MTHFS MTMR14 MTNR1B MTO1 MTOR MTR MTRFR MTRR MTX2 MUSK MVK MYBPC3 MYD88 MYF6 MYH3 MYH6 MYL11 MYLK MYO1E MYO1H MYO5B MYOF MYPN NAA10 NAB2 NABP1 NADK2 NAF1 NAGA NALCN NARS2 NAXD NAXE NBAS NCF1 NCF2 NCF4 NDN NDP NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN4 NEK1 NEK10 NEK2 NEK9 NEU1 NEUROD1 NEUROG3 NFKB2 NFKBIA NFKBIL1 NFS1 NFU1 NGF NGLY1 NHP2 NIPAL4 NIPBL NKX2-1 NKX2-5 NKX2-6 NLRC4 NLRP1 NLRP12 NLRP3 NNT NOD2 NODAL NOP10 NOS1AP NOS3 NOTCH2 NOTCH3 NPAP1 NPHS1 NPHS2 NPM1 NR0B1 NR0B2 NR1H4 NR2E3 NR3C1 NR3C2 NRAS NRL NSD1 NSF NSMCE2 NSUN3 NTRK1 NUAK2 NUBPL NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OCA2 OCRL ODC1 OFD1 OGDH OPA1 ORAI1 OSGEP OTC OTULIN OTX2 OVOL2 OXCT1 P4HA2 P4HTM PAH PAK1 PALB2 PALLD PAPPA2 PARN PAX2 PAX4 PAX6 PAX8 PBX1 PC PCARE PCBD1 PCCA PCCB PCK1 PCK2 PCNT PCSK1 PDE4D PDE6A PDE6B PDE6G PDGFRB PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PDX1 PERCC1 PET100 PET117 PEX1 PEX10 PEX2 PEX5 PEX6 PGM1 PHGDH PHKA1 PHKA2 PHKB PHKG2 PHOX2B PI4KA PIEZO1 PIGA PIGN PIK3CA PIK3CD PIK3CG PIK3R1 PITRM1 PKHD1 PKLR PLA2G6 PLAA PLAG1 PLAGL1 PLCD1 PLCE1 PLCG2 PLCH1 PLD1 PLG PLIN1 PLPBP PLVAP PLXND1 PML PMM2 PMP22 PMPCA PMPCB PNLIP PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POFUT1 POGLUT1 POGZ POLA1 POLD1 POLG POLG2 POLR3A POLRMT POMC POMGNT1 POMP POR POU1F1 POU4F1 POU6F2 PPA2 PPARG PPCS PPM1B PPP1R15B PPP1R3A PPP2R5D PPP3CA PRCD PRDX1 PREPL PRF1 PRKACA PRKAG2 PRKAR1A PRKCD PRNP PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRT2 PRSS1 PRSS12 PRSS2 PRTN3 PSAP PSAT1 PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSPH PSTPIP1 PTCH1 PTEN PTF1A PTH1R PTPN1 PTPN11 PTPN14 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTRH2 PTS PUS1 PWAR1 PWRN1 PYGL QDPR QRSL1 RAB27A RABL3 RAC1 RAD21 RAF1 RAG1 RAG2 RANBP2 RARA RARS1 RARS2 RASA1 RASA2 RASGRP1 RB1 RBCK1 RBM8A RBP3 RDH12 RDH5 RECQL4 REEP6 REL RELN REST RET RETN RFC2 RFX6 RGR RHD RHO RIMS2 RIN2 RIPK1 RIT1 RLBP1 RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF125 RNF13 RNF168 RNU4ATAC RNU7-1 ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAGD RRAS RRAS2 RRM2B RTEL1 RTL1 RUNX1 RYR1 SAG SAMD9 SAMHD1 SARS2 SAT1 SBDS SCAPER SCARB2 SCN10A SCN11A SCN1A SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL1 SDC3 SDHA SDHB SDHD SDR9C7 SECISBP2 SEMA4A SEMA4D SERAC1 SERPINA1 SERPING1 SETD2 SFTPB SFTPC SFXN4 SGPL1 SH2B1 SH2B3 SH2D1A SH3KBP1 SHANK3 SHH SHOX SHPK SHQ1 SIM1 SIN3A SIX3 SLC11A1 SLC12A1 SLC12A3 SLC16A1 SLC17A5 SLC18A2 SLC19A2 SLC19A3 SLC1A1 SLC1A3 SLC22A4 SLC22A5 SLC25A10 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A26 SLC25A3 SLC25A36 SLC25A4 SLC25A42 SLC26A2 SLC26A3 SLC26A9 SLC29A3 SLC2A2 SLC30A8 SLC31A1 SLC34A1 SLC34A2 SLC35C1 SLC35D1 SLC37A4 SLC39A7 SLC3A1 SLC40A1 SLC41A1 SLC4A1 SLC4A11 SLC4A4 SLC52A1 SLC5A1 SLC5A2 SLC5A5 SLC6A14 SLC7A14 SLC7A7 SLC9A3 SLCO2A1 SMAD4 SMARCAL1 SMC1A SMC3 SMC5 SMCHD1 SMPD4 SMS SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX10 SNX14 SOD1 SOS1 SOS2 SOX18 SOX2 SOX3 SPATA7 SPG11 SPI1 SPINK1 SPINK5 SPP1 SPR SPRED2 SPTA1 SPTB SPTBN1 SQOR SRCAP SRP19 SRP54 SRSF2 STAC3 STAG1 STAG2 STAR STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STIL STIM1 STING1 STK4 STOX1 STUB1 STX11 STX1A STX3 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SUOX SURF1 SYK SYNJ1 TAFAZZIN TALDO1 TANGO2 TAOK1 TAPT1 TARS2 TBC1D8B TBCK TBK1 TBL1XR1 TBL2 TBX19 TBX20 TBX3 TCF3 TCF4 TCF7L2 TCIRG1 TDGF1 TEK TERC TERT TET2 TFAM TFE3 TFG TG TGFB1 TGFBI TGIF1 TGM1 TH THRB THSD1 TICAM1 TIE1 TIMM22 TIMM50 TIMMDC1 TINF2 TK2 TKFC TKT TLL1 TLR3 TLR4 TLR7 TLR8 TMEM126B TMEM165 TMEM260 TMEM270 TMEM70 TMPRSS15 TNFAIP3 TNFRSF11B TNFRSF1A TNFRSF1B TNFSF11 TNNI3 TNNT2 TOM1 TOPORS TP53 TPK1 TPO TPRKB TRAF3 TRAF3IP2 TRAF6 TRANK1 TRAPPC2 TRAPPC9 TREX1 TRIM28 TRIM37 TRIP11 TRIP13 TRMT10A TRMT10C TRMT5 TRMU TRNT1 TRPC6 TRPM3 TSC1 TSC2 TSFM TSHB TSHR TSPAN12 TSPOAP1 TSPYL1 TSR2 TTC26 TTC7A TTC8 TTPA TTR TUB TUBB TUFM TULP1 TWNK TXN2 TXNDC15 TXNRD2 TYMP TYMS UBA1 UBAC2 UBE3A UBR1 UCP2 UCP3 UNC13D UNC45A UNC93B1 UPB1 UQCC2 UQCC3 UQCRB UQCRC2 UQCRFS1 UQCRH UQCRQ UROD UROS USB1 USH2A USP18 USP48 USP8 VAC14 VANGL1 VANGL2 VARS2 VEGFC VHL VIPAS39 VPS11 VPS33B VPS37D VPS51 VSX1 WARS2 WAS WDR1 WDR11 WDR35 WFS1 WIPF1 WNK1 WNK4 WNT7A WNT9B WRAP53 WRN WT1 XIAP XPA XPC XPNPEP2 XRCC4 XYLT2 YARS1 YARS2 YIPF5 YME1L1 YY1 ZBTB16 ZBTB20 ZEB1 ZFHX2 ZFP57 ZFYVE19 ZFYVE26 ZIC2 ZMPSTE24 ZNF408 ZNF513 ZNF668 ZNF699 ZNFX1 ZNHIT3 ZNRF3 HP_ABNORMAL_HUMERUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HUMERUS_MORPHOLOGY ATP7A B3GALT6 BMP1 COL2A1 CREB3L1 FLNB GNPTAB KIAA0753 LAMA5 LBR LYSET PRKG2 RNU4ATAC RSPO2 SLC26A2 SPARC SRCAP HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY BRAF CDH2 CPLANE1 CTNNB1 FAM149B1 GLI3 KIAA0753 KIF7 LEPR MAN2C1 OFD1 PDE6D SIX6 SMO SOX2 SPG11 TCTN3 TIAM1 TMEM216 TOPORS VPS16 HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY AKT1 ANOS1 BAP1 CCDC141 CDON CHD7 DCC DISP1 DLL1 DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FOXH1 GAS1 GLI2 HESX1 HS6ST1 IL17RD LHX3 MAGEL2 NDNF NF2 NODAL PDGFB PIK3CA PLCH1 PROK2 PROKR2 PTCH1 SEMA3A SHH SIM1 SIX3 SMARCB1 SMARCE1 SMC1A SMO SOX10 SPRY4 STAG2 STIL SUFU TACR3 TDGF1 TERT TGIF1 TRAF7 TRH WDR11 ZIC2 HP_ABNORMAL_ILEUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILEUM_MORPHOLOGY BRCA1 BRCA2 BRIP1 CARD8 DIS3L2 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR1 FOXF1 GMPPB GPC3 GPC4 GTF2H5 MAD2L2 MYH11 PALB2 PI4KA PPP1R12A RAD51 RAD51C RBM10 RBM8A RELA RFWD3 RFX6 SLX4 TNFAIP3 TTC7A UBE2T XRCC2 HP_ABNORMAL_ILIAC_WING_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIAC_WING_MORPHOLOGY AIFM1 AMER1 ARSB ATP7A B3GALT6 BGN CCBE1 COL11A2 COL2A1 CREBBP CTSK DDR2 DLK1 DYM EED EIF2AK3 EP300 ERCC6 ERCC8 EVC EVC2 EZH2 FGFR3 FLNA FN1 FUZ GALNS GATA1 GLB1 GNPTAB GNPTG GPC3 GPC4 GPX4 GUSB HDAC6 IDUA IHH LAMA5 LYSET MATN3 MEG3 MMP13 NANS NKX3-2 PCNT PEX5 PHEX PLEKHM1 PTH1R RAB23 RIPK4 RNU4ATAC RPS6KA3 RTL1 RUNX2 SEC23A SEC24D SMAD4 SOX9 TBX15 TRAPPC2 TRIP11 TRPV4 VANGL1 VPS33A WNT7A ZBTB20 HP_ABNORMAL_ILIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIUM_MORPHOLOGY ACP5 AEBP1 AIFM1 AMER1 ARSB ATP7A B3GALT6 BGN CCBE1 CCN6 CEP120 COG1 COL11A1 COL11A2 COL2A1 CREBBP CTSK DDR2 DLK1 DMP1 DYM EED EIF2AK3 ENPP1 EP300 ERCC6 ERCC8 EVC EVC2 EXTL3 EZH2 FGFR3 FLNA FLNB FN1 FUZ GALNS GATA1 GLB1 GNPTAB GNPTG GPC3 GPC4 GPX4 GUSB HDAC6 HLA-B HSPG2 IDH1 IDUA IFT81 IHH INPPL1 KAT6B LAMA5 LIFR LMX1B LONP1 LYSET MAN2B1 MATN3 MEG3 MMP13 NANS NEPRO NKX3-2 PAM16 PCNT PCYT1A PEX5 PHEX PIGN PLCB3 PLEKHM1 POLR3A POP1 PTH1R RAB23 RIPK4 RMRP RNU4ATAC RPS19 RPS6KA3 RTL1 RUNX2 SEC23A SEC24D SLC26A2 SLC35D1 SMAD4 SOX9 TBX15 TMEM67 TNFRSF1A TRAPPC2 TRIP11 TRPV4 TWIST2 VANGL1 VPS33A WDR19 WNT7A ZBTB20 HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY AARS1 ABCB4 ABCC9 ABCD4 ABHD5 ABL1 ACAT1 ACD ACP5 ACTC1 ACTN2 ACVRL1 ADA ADA2 ADAMTS3 ADAR ADH5 AGA AGR2 AK2 ALAD ALG12 AMN ANAPC1 ANKRD1 ANKRD26 AP1S3 AP3B1 AP3D1 APC APC2 APOE ARHGAP26 ARHGAP31 ARHGEF1 ARPC1B ASAH1 ASXL1 ATM ATP11A ATP6AP1 ATP6AP2 ATRX B2M BACH2 BAG3 BAG5 BANK1 BAX BCL10 BCL11B BCOR BCR BLK BLM BLNK BLOC1S6 BRAF BRCA1 BRCA2 BRD4 BRIP1 BTK BTNL2 BUB1 BUB1B BUB3 C4A C4B CA2 CALR CAMK2B CAP2 CAPN3 CARD10 CARD11 CARD9 CARMIL2 CARS1 CASK CASP10 CASP8 CASR CBL CCBE1 CD19 CD247 CD27 CD28 CD3D CD3E CD3G CD4 CD40 CD40LG CD70 CD79A CD79B CD81 CD8A CDC40 CDCA7 CDH23 CDKN2A CDSN CEBPA CEBPE CEP57 CFTR CHD7 CHEK2 CHIC2 CIITA CLCN7 CLN3 CLN5 CLPB COG4 CORO1A CPA1 CR2 CREBBP CRYAB CSF3R CSRP3 CTC1 CTLA4 CTNNBL1 CTPS1 CTRC CTSC CUBN CXCR2 CXCR4 CYBA CYBB CYBC1 CYP26C1 DCLRE1B DCLRE1C DDR2 DDX41 DEF6 DES DIAPH1 DKC1 DLL4 DLX3 DMD DMP1 DNAJC21 DNASE1 DNASE2 DNMT3A DNMT3B DOCK2 DOCK6 DOCK8 DOLK DSG2 DSP DUT DYNC2LI1 EFL1 EIF2AK3 ELANE ELF4 ENG ENPP1 EOGT EP300 EPB42 EPG5 EPX ERBB3 ERCC2 ERCC3 ERCC4 ERCC6L2 ETS1 ETV6 EVC EVC2 EXTL3 F13A1 F13B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXL4 FBXW7 FCGR2A FCGR2B FCGR3A FCGR3B FCHO1 FDX2 FERMT3 FGF23 FGFR3 FHL2 FIBP FIP1L1 FKTN FLT3 FMO3 FNIP1 FOCAD FOXN1 FOXP3 FTCD FUCA1 FUT8 G6PC3 G6PD GATA1 GATA2 GATAD1 GBA1 GFI1 GINS1 GJB2 GJB6 GLB1 GLI1 GNB1 GPI GPR35 GSS GTF2E2 GTF2H5 H4C9 HAND2 HAVCR2 HAX1 HBB HEATR3 HELLS HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGCL HSCB HTRA2 HYOU1 ICOS IDH1 IFIH1 IFNG IFNGR1 IGHG1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL10 IL10RA IL10RB IL17RA IL1RN IL21 IL2RA IL2RB IL2RG IL36RN IL37 IL6R IL6ST IL7 IL7R IPO8 IRAK1 IRAK4 IRF2BP2 IRF5 IRF8 ISCU ITCH ITGAM ITGB2 ITK IVD IVNS1ABP JAGN1 JAK1 JAK2 JAK3 JAZF1 JPH2 KIAA0319L KIF11 KIT KLHDC8B KNSTRN KRAS LACC1 LAMA4 LAMTOR2 LAT LBR LCK LCP2 LDB3 LEP LEPR LIG1 LIG4 LIPA LMBRD1 LMNA LMNB2 LMOD2 LPIN2 LPP LRBA LRRC8A LSM11 LYST LZTR1 MAD2L2 MAGT1 MALT1 MAN2B1 MAP2K1 MBD4 MCM10 MCM4 MDM2 MDM4 MECOM MECP2 MEFV MGAT2 MICU1 MLH1 MLLT10 MMAA MMAB MMACHC MMUT MNX1 MPEG1 MPL MPLKIP MS4A1 MSH2 MSN MST1 MTHFD1 MTRR MVK MYBPC3 MYC MYD88 MYH6 MYH7 MYH9 MYPN MYSM1 NABP1 NAE1 NAF1 NBAS NBN NCAPG2 NCF1 NCF2 NCF4 NCKAP1L NDUFA6 NEU1 NEXN NF1 NFKB1 NFKB2 NFKBIA NHEJ1 NHLRC2 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOP10 NOTCH1 NPC1 NPC2 NPM1 NR3C1 NRAS NSD1 NSMCE3 NSUN2 NTRK1 NUMA1 NUP214 NUTM1 OAS1 ORAI1 OSTM1 OTUD5 OTULIN PACS2 PALB2 PALLD PARN PCCA PCCB PDCD1 PDGFRA PDGFRB PGM3 PHEX PI4KA PICALM PIGA PIGL PIK3CA PIK3CD PIK3CG PIK3R1 PKHD1 PLCG2 PLN PML PMM2 PNP PNPLA2 POMP POT1 PPCS PPIL1 PPT1 PRDM16 PRDX1 PRF1 PRIM1 PRKACA PRKACB PRKAR1A PRKCD PRKDC PRSS1 PRSS2 PRTN3 PSEN1 PSEN2 PSENEN PSMB4 PSMB9 PSTPIP1 PTEN PTPN11 PTPN22 PTPRC PXK RAB27A RABL3 RAC2 RAD51 RAD51C RAF1 RAG1 RAG2 RARA RASGRP1 RB1 RBCK1 RBM20 RBM8A RBPJ RECQL4 REL RELB RFWD3 RFX5 RFXANK RFXAP RHOH RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNU4ATAC RNU7-1 RPA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RTEL1 RUNX1 SALL4 SAMD9 SAMD9L SAMHD1 SARS2 SASH3 SAT1 SBDS SCARB2 SCN10A SCN11A SCN5A SCN9A SDHA SEC61A1 SEMA4D SETBP1 SETD2 SF3B1 SFXN4 SGCD SGCG SGPL1 SH2B3 SH2D1A SH3GL1 SKIC2 SKIC3 SLC17A5 SLC19A1 SLC27A4 SLC29A3 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SLF2 SLX4 SMAD4 SMARCAL1 SMARCD2 SMPD1 SOCS1 SP110 SPI1 SPINK1 SPINK5 SPP1 SPPL2A SPRED1 SPRED2 SREBF1 SRP19 SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STK4 STN1 STS STX11 STXBP2 SYK TAF1A TAFAZZIN TAL1 TAL2 TARS1 TBK1 TBL1XR1 TBX2 TBX21 TBXAS1 TCAP TCF3 TCF4 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TGFB1 THPO TICAM1 TINF2 TLR3 TLR7 TLR8 TMEM147 TMPO TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF9 TNFSF12 TNFSF4 TNIP1 TNNC1 TNNI3 TNNT2 TOM1 TONSL TP53 TPM1 TPP2 TRAC TRAF3 TREM2 TREX1 TRIP13 TRNT1 TSR2 TTC7A TTI2 TTN TXNRD2 TYMS TYROBP UBE2A UBE2L3 UBE2T UNC119 UNC13D UNC93B1 UROS USB1 USP48 USP8 VANGL1 VCL VEZF1 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 WRAP53 XIAP XRCC2 XRCC4 ZAP70 ZBTB16 ZBTB24 ZNF341 ZNF699 ZNFX1 ZPR1 HP_ABNORMAL_INCISOR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INCISOR_MORPHOLOGY ABCC9 ARHGAP29 ARHGEF38 ATP6V1B2 ATR AXIN2 B3GLCT BMP4 BRF1 CACNA1I CCBE1 CDH1 CHSY1 CKAP2L COBLL1 COL11A1 CREBBP CTCF DLG1 DLX4 DPH2 DYNC2LI1 EDA EDARADD EP300 EVC EVC2 FARS2 FGF3 FGFR1 FGFR2 GJA1 GLI1 GRIA3 IKBKG IRF6 KAT6A KCNK9 KCNMA1 LRP6 MSX1 NECTIN1 NEK1 NHS PACS2 PAX9 PDGFRA PRKACA PRKACB PURA RIC1 ST14 SUMO1 TBC1D24 TGFA TP63 VPS13B WNT10A WNT10B HP_ABNORMAL_INFERIOR_VENA_CAVA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INFERIOR_VENA_CAVA_MORPHOLOGY ACVR2B CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 HYDIN KDM3B LRRC56 MCIDAS MMP21 NEK10 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SMOC1 SPAG1 SPEF2 STK36 TTC12 ZMYND10 HP_ABNORMAL_INTERMAMILLARY_DISTANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERMAMILLARY_DISTANCE ABCD4 ADNP ALG14 ALG9 AMER1 AMMECR1 ARCN1 ARHGEF2 ASH1L ASXL1 B3GLCT BRAF CBL CDH11 CDK13 CERT1 CHD7 CHST3 CILK1 COG1 COX7B CPT2 CSPP1 DHCR7 DLK1 DUSP6 EED ERCC6 ERMARD EXOC2 FGF17 FGF8 FGFR1 FRAS1 FREM2 GATA4 GNB2 GNPTAB GNRH1 GNRHR GPC3 GPC4 GRIP1 HDAC4 HNRNPK HS6ST1 IBA57 IDH1 IGF1R INTU KANSL1 KAT6A KATNB1 KIAA0586 KIFBP KISS1 KISS1R KNSTRN KRAS LAMA5 LBR LZTR1 MAB21L1 MADD MAP2K1 MAPRE2 MEG3 MEGF8 MGAT2 MRAS NECTIN1 NF1 NHLH2 NRAS NSD2 NSMF NUP188 PACS1 PIGN PIK3CD PPP1CB PROK2 PROKR2 PSAT1 PTPN11 RAB18 RAF1 RASA2 RIPK4 RIT1 RRAS RRAS2 RTL1 SMARCA2 SMPD4 SMS SOS1 SOS2 SPRED2 SPRY4 SRY TAC3 TACR3 TBL1XR1 TFAP2A TIMM50 TMCO1 TMEM94 TOGARAM1 TP63 TRAF7 TTC5 TUBB UBE2A WASF1 WDR11 WDR37 WLS ZC4H2 ZNF148 HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY ABCG5 ABCG8 APOB HOXA1 LDLR LDLRAP1 LMX1B NDE1 NF1 PCSK9 HP_ABNORMAL_INTERNAL_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_GENITALIA AAGAB AARS1 ADGRG2 ADH5 AGPAT2 AKT1 AKT2 ALG9 ALMS1 ANOS1 ANTXR2 APC AR ARHGAP31 ARID1B ARL6 ARVCF ATM AURKA AXIN1 AXIN2 B3GLCT BARD1 BAX BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BMP15 BMPR1A BMPR1B BNC1 BRAF BRCA1 BRCA2 BRD4 BRIP1 BSCL2 BTK BUB1 BUB1B BUB3 BUD23 C14orf39 CAPN15 CARS1 CAV1 CAVIN1 CBX2 CC2D2A CCDC141 CCDC28B CCND1 CCNQ CDC73 CDH1 CDKN1B CDKN1C CDKN2A CEACAM3 CEACAM6 CEP19 CEP290 CEP57 CFAP418 CFTR CHD7 CHEK2 CHRM3 CIDEC CLCA4 CLDN2 CLEC7A CLIP2 CLPP COL14A1 COL1A1 COL3A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COMT COQ6 CORIN COX7B CPLX1 CREBBP CTBP1 CTC1 CTLA4 CTNNB1 CXCR4 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DACT1 DCAF17 DCC DCTN4 DDB1 DHCR7 DHH DHX37 DICER1 DKC1 DLC1 DLL3 DMRT1 DMRT3 DNAJC30 DUSP6 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EDNRA EIF4H ELN EP300 EPCAM EPHB2 ERAL1 ERBB2 ERCC2 ERCC3 ERCC4 ERCC6 ESCO2 ESR1 EVC EVC2 EWSR1 F7 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FEZF1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIGLA FKBP6 FLCN FLI1 FLRT3 FLT1 FOS FOXE1 FOXF1 FOXL2 FRAS1 FREM1 FREM2 FSHR FZD2 GATA2 GATA3 GATA4 GCLC GFRA1 GLI1 GLI3 GNAS GNB2 GNRH1 GNRHR GP1BB GREB1L GREM1 GRIP1 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HARS2 HCCS HDAC8 HES7 HESX1 HFE HFM1 HGD HIRA HLA-DPA1 HLA-DPB1 HMOX1 HNF1A HNF1B HOXA13 HOXD13 HS6ST1 HSD17B4 HYLS1 IDH1 IDH2 IFT172 IFT27 IFT74 IFT80 IGF2 IGHG2 IGKC IL10RB IL17F IL17RA IL17RC IL17RD INSR INTU IPO8 IRF6 ITGA8 JAK3 JMJD1C KCNN4 KCNQ1 KCNQ1OT1 KEAP1 KIF14 KIF7 KISS1 KISS1R KLF6 KLLN KRAS LARS2 LEP LEPR LETM1 LFNG LHB LIMK1 LIPE LMNA LMNB2 LONP1 LRP2 LZTFL1 LZTR1 MAD1L1 MAD2L2 MAMLD1 MAP3K1 MBD4 MCC MCM8 MDM2 MESP2 METTL27 MID1 MIF MINPP1 MKKS MKS1 MLH1 MLH3 MLXIPL MMP14 MMP2 MNX1 MPLKIP MRE11 MRPS22 MSH2 MSH3 MSH4 MSH5 MSH6 MSX1 MT-CYB MTM1 MXI1 MYC MYRF NAB2 NBN NCF1 NDNF NDP NDUFB11 NF2 NHLH2 NHP2 NIN NIPBL NOBOX NOP10 NPHP1 NPM1 NR0B1 NR2F2 NR5A1 NRAS NSD2 NSMF NTHL1 NUP107 OFD1 OPCML PALB2 PALLD PANX1 PARN PATL2 PAX3 PAX6 PDE11A PDGFRL PHF6 PHGDH PHKA2 PHKB PHKG2 PI4KA PIGN PIK3CA PIK3R1 PLA2G2A PLG PLIN1 PMM2 PMS1 PMS2 POLD1 POLE POLR1B POLR1C POLR1D POLR3H POR PPARG PPP1R12A PPP2R1A PPP2R3C PRKACA PRKACB PRKAR1A PRKN PRLR PROK2 PROKR2 PRTN3 PSMB8 PSMC3IP PTCH1 PTEN PTPN11 PTPN12 PTPN22 PTPRJ RABL3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54B RARB RBM8A RECQL4 RELA RET RFC2 RFWD3 RIPK4 RIPPLY2 RNASEL RNF113A RNF43 RNU12 RPS20 RPS6KA3 RREB1 RSPO2 RTEL1 RXYLT1 SALL1 SALL4 SCAPER SCLT1 SDCCAG8 SDHB SDHC SDHD SEC23B SEC24C SEMA3A SEMA3E SEMA4A SERPINA1 SETBP1 SETD2 SF3B4 SLC11A1 SLC26A9 SLC34A2 SLC35A2 SLC37A4 SLC6A14 SLC6A17 SLC9A3 SLX4 SMAD3 SMAD4 SMARCB1 SMC1A SMC3 SOHLH1 SOX10 SOX11 SOX3 SOX9 SPECC1L SPIDR SPINT2 SPRED1 SPRY4 SRC SRCAP SRD5A2 SRY STAG3 STAT6 STK11 STOX1 STRA6 STX1A TAC3 TACR3 TARS1 TBL2 TBX1 TBX3 TBX6 TCOF1 TCTN3 TERC TERT TGFB1 TGFBR1 TGFBR2 THOC6 TINF2 TLR2 TMEM270 TNXB TOE1 TP53 TP63 TRAF3IP2 TRAIP TRIM32 TRIP13 TRPV6 TSC1 TSC2 TTC8 TUBB8 TWNK TXNDC15 TYMS UBE2T UBR1 UFD1 UNG USB1 USF3 VAMP7 VHL VPS37D WDPCP WDR11 WDR35 WEE2 WNT10A WNT3 WNT4 WNT7A WNT7B WNT9B WRAP53 WRN WT1 WWOX XRCC2 ZEB2 ZFHX3 ZFPM2 ZFTA ZMYM2 ZPR1 ZSWIM7 HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY ACP5 ANKH BPNT2 CHST3 COL2A1 COL9A1 DLL3 EXTL3 FN1 GON7 HES7 HGD HOXD13 LAGE3 LFNG LMNA LTBP3 MAP3K7 MATN3 MESP2 MT-ATP8 MT-TL1 NT5E NUP107 NUP133 OSGEP PLCB3 PPP1CB RIPPLY2 RNU4ATAC RRM2B SHOC2 SLC26A2 SMAD2 SMAD3 TBX1 TMEM53 TNFRSF11B TP53RK TPRKB TRAPPC2 TRPV4 WDR4 WDR73 XYLT2 YRDC HP_ABNORMAL_INTESTINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTESTINE_MORPHOLOGY AAGAB ABCB1 ABCB11 ABCB4 ABCD1 ABL1 ACADVL ACOX2 ACTA2 ACTG2 ACVRL1 ADA2 ADAM17 ADAMTS3 AGA AHI1 AIRE AK2 AKR1D1 AKT1 ALDH18A1 ALG1 ALG12 ALG3 ALG6 ALG8 ALG9 AMACR AMER1 ANTXR2 AP1B1 AP1S1 APC APC2 APOB ARID1B ARL13B ARL3 ARL6 ARMC9 ARPC1B ARVCF ARX ASCL1 ASXL1 ASXL3 ATP7A ATP8B1 ATRX AURKA AXIN2 B2M B3GLCT B9D1 B9D2 BACH2 BAX BAZ1B BBS1 BCL10 BCL7B BCOR BDNF BICRA BLM BLNK BMPR1A BRAF BRCA1 BRCA2 BRD4 BRIP1 BTK BUB1 BUB1B BUB3 BUD23 C1R C1S C4A CALR CAMK2A CARD11 CARD8 CARMIL2 CASP10 CASZ1 CAV1 CAVIN1 CBL CBY1 CC2D2A CCBE1 CCDC103 CCDC22 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCN2 CCND1 CCNO CCNQ CCR1 CCR6 CD3G CD55 CD79A CD79B CDC45 CDCA7 CDK8 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CENPF CEP104 CEP120 CEP290 CEP41 CEP57 CFAP221 CFAP298 CFAP300 CFAP45 CFAP74 CFC1 CFTR CHD7 CHEK2 CHRM3 CHST14 CIITA CISD2 CLCA4 CLIP2 CLMP CLTRN COG6 COG8 COL14A1 COL1A1 COL3A1 COL5A1 COL5A2 COMT COX4I2 COX7B CPLANE1 CPLX1 CREBBP CSPP1 CTBP1 CTC1 CTLA4 CTNNB1 CTRC CXCR4 CYBA CYBB CYBC1 CYP7B1 DACT1 DCC DCLRE1B DCTN4 DDB1 DDX3X DDX59 DEF6 DGAT1 DHCR24 DHCR7 DHODH DICER1 DIS3L2 DISP1 DKC1 DLC1 DLL1 DMP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNMT3B DOCK2 DOCK8 DOK7 DPYSL5 DRC1 DSE DSG1 DYNC2H1 DYRK1A DZIP1L ECE1 EDN3 EDNRA EDNRB EFEMP2 EFL1 EIF4H ELANE ELF4 ELN ENG ENPP1 EP300 EPCAM ERAP1 ERBB2 ERBB3 ERCC2 ERCC4 EWSR1 EXT1 EXT2 EYA1 F12 F13A1 F13B F5 FAH FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN2 FCGR2A FCHO1 FCN3 FERMT1 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FKBP6 FLCN FLI1 FLNA FLNB FOCAD FOXE1 FOXF1 FOXH1 FOXJ1 FOXP3 FRAS1 FREM1 FREM2 GABRD GAS1 GAS2L2 GAS8 GATA1 GATA6 GCLC GDF2 GDNF GFRA1 GLA GLI2 GMPPB GNAS GP1BB GPC3 GPC4 GPIHBP1 GPR35 GREB1L GREM1 GSTM3 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C HABP2 HCCS HDAC8 HEATR3 HELLS HEPACAM HFE HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMGA2 HMOX1 HNRNPK HNRNPU HPGD HPS1 HSD3B7 HSPG2 HYDIN HYLS1 HYOU1 IDS IFNGR1 IFT43 IFT74 IGHG2 IGHM IGKC IGLL1 IKBKG IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12RB1 IL21 IL23R IL2RA IL37 IL6 INAVA INPP5E INSR IPO8 IRF4 IRF5 IRGM ISL1 ITCH ITGA6 ITGA8 ITGB2 ITGB4 IVNS1ABP JAK1 JAK2 JAK3 JMJD1C KAT6A KAT6B KATNIP KCNAB2 KCNN4 KDM3B KDM6A KEAP1 KIAA0586 KIAA0753 KIF21A KIF26A KIF7 KIFBP KIT KITLG KLLN KLRC4 KMT2D KRAS L1CAM LBR LBX1 LCT LEMD3 LETM1 LIG3 LIG4 LIMK1 LIPA LMNA LMOD1 LONP1 LPIN2 LRBA LRP2 LRRC56 LRRC8A LTBP1 LTBP4 LUZP1 MAD1L1 MAD2L2 MADD MAP3K7 MASP2 MBD4 MBTPS2 MCC MCIDAS MCM6 MDM2 MED12 MEFV MEN1 METTL27 MID1 MIF MINPP1 MIR17HG MITF MKKS MKS1 MLH1 MLH3 MLXIPL MMEL1 MMP21 MMP23B MNX1 MPI MSH2 MSH3 MSH6 MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTOR MTRFR MTTP MUSK MUTYH MVK MYC MYCN MYD88 MYH11 MYLK MYO1H MYO5B MYOD1 MYRF NAA10 NCF1 NCF2 NCF4 NDUFB11 NEK1 NEK10 NEUROG3 NFKBIA NHP2 NIPBL NLRC4 NME5 NME8 NOD2 NODAL NOP10 NOTCH2 NOTCH3 NPHP1 NPHP3 NPM1 NRAS NRTN NSD1 NSD2 NSUN2 NTHL1 NUP88 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPLAH OTUD5 PACS1 PALB2 PALLD PARN PAX3 PCSK1 PDE11A PDE6D PDGFRA PDGFRB PDGFRL PDPN PERCC1 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM3 PHOX2B PI4KA PIBF1 PIEZO1 PIGL PIGN PIGO PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKD1 PKHD1 PKP1 PLA2G2A PLA2G4A PLCG2 PLG PLVAP PMM2 PMS1 PMS2 PNLIP POLA1 POLD1 POLE POLG POLR1B POLR1C POLR1D PORCN POU2AF1 PPOX PPP1R12A PRDM16 PRF1 PRKAR1A PRKCD PRKCZ PRMT7 PRSS1 PRSS2 PRTN3 PSTPIP1 PTCH1 PTEN PTF1A PTPN12 PTPN22 PTPRJ PTRH2 RABL3 RAC2 RAD21 RAD51 RAD51C RAD54B RAPSN RARB RASGRP1 RBCK1 RBM10 RBM8A RECQL4 RELA RERE RET RFC2 RFWD3 RFX5 RFX6 RFXANK RFXAP RHBDF2 RIPK1 RMRP RNF43 RNU12 ROBO1 RPGR RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTTN RUNX1 SAA1 SALL1 SALL4 SAR1B SATB1 SATB2 SBDS SDHA SDHB SDHC SDHD SEC23B SEC24C SEMA3C SEMA3D SEMA4A SEMA4D SERPINA1 SERPING1 SETBP1 SETD2 SETD5 SF3B4 SGO1 SH2B1 SH3KBP1 SHH SHPK SI SIN3A SIX1 SIX3 SKI SKIC2 SKIC3 SLC10A2 SLC11A1 SLC12A2 SLC18A3 SLC25A12 SLC26A9 SLC29A3 SLC2A2 SLC37A4 SLC39A4 SLC39A7 SLC46A1 SLC51B SLC5A1 SLC6A14 SLC6A19 SLC6A8 SLC7A7 SLC9A3 SLCO2A1 SLX4 SMAD2 SMAD4 SMAD7 SMARCAL1 SMC1A SMC3 SMO SNAI2 SOCS1 SON SOX10 SPAG1 SPEF2 SPEN SPI1 SPIB SPINK1 SPINK5 SPINT2 SRC SRCAP SREBF1 SRP54 SRSF2 STAG2 STAT1 STAT3 STAT4 STAT5B STK11 STK36 STRA6 STX11 STX1A STX3 STXBP2 SUFU SYK TBC1D7 TBCE TBL2 TBX1 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TEK TERC TERT TET2 TFAP2A TGFB1 TGFBR2 TGIF1 TINF2 TJP2 TLR2 TLR4 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TMPRSS6 TNFAIP3 TNFRSF1A TNFSF15 TNPO3 TOGARAM1 TOM1 TP53 TP63 TREH TRIP13 TRMT5 TSR2 TTC12 TTC7A TTR TUBA1A TWNK TYMP TYMS TYR UBAC2 UBE2T UBE3B UBE4B UBR1 UFD1 UNC13D UNC45A USB1 USF3 VANGL1 VARS1 VPS35L VPS37D VPS51 WAC WAS WASHC5 WBP11 WFS1 WIPF1 WNT2B WNT4 WNT7B WNT9B WRAP53 WT1 XIAP XRCC2 XRCC4 XYLT2 ZAP70 ZBTB24 ZEB2 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYND10 ZNF423 ZNF699 ZPR1 HP_ABNORMAL_INTONATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTONATION ADAMTSL2 AR ARID1B BLM BRD4 BSCL2 CHRNB1 CTNND2 CWF19L1 DNAJC13 EED EIF4G1 ERCC4 EZH2 FAM111A FBXO7 FMR1 GBA1 GHR GIGYF2 GRB10 GRIN2A HDAC8 HSPG2 IGF1R ITPA LMNA LRRK2 MDM2 MED12 MFN2 MORC2 MTX2 MYH7 NBAS NIPBL NSD1 ORC4 P4HB PCNT POC1A POLD1 PPP1R15B RAD21 RBBP8 RIN2 SEC24D SELENON SEMA5A SERPINH1 SMARCAL1 SMC1A SMC3 SNCA SRCAP SRPX2 STAT5B SUZ12 SYT2 TRIM37 TRMT10A TRPS1 TTN VPS35 WRN XRCC4 ZMPSTE24 HP_ABNORMAL_INTRAHEPATIC_BILE_DUCT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAHEPATIC_BILE_DUCT_MORPHOLOGY AKR1D1 CC2D2A CLDN1 DCDC2 DZIP1L IL12A IL12RB1 INPP5E IRF5 JAG1 KIF3B LMBRD1 LMNA MED12 MMEL1 PEX1 PEX14 PEX2 PEX5 PKHD1 POU2AF1 RPGRIP1L SPIB TCTN3 TMEM67 TNFSF15 TNPO3 TTC26 VPS33B WDR19 ZFYVE19 HP_ABNORMAL_INTRAOCULAR_PRESSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAOCULAR_PRESSURE ADAMTS17 ASB10 ASPH BAP1 C1QTNF5 CHRDL1 CHST14 COL18A1 COL2A1 COL8A2 CYP1B1 CYSLTR2 DSE EFEMP1 FN1 FOXE3 GLIS3 GNA11 GNAQ GRHL2 HLA-A HMX1 LMX1B LOXL1 LTBP2 MYOC NFIA OVOL2 PITX3 PRSS56 PXDN SF3B1 SLC39A14 TEK VSX1 ZEB1 HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS AARS1 AARS2 ABCA4 ABCB7 ABCC9 ABHD12 ABHD5 ACBD5 ACO2 ACOX1 ACTL6B ADAMTSL4 ADAR ADD3 ADGRG1 ADGRV1 ADORA2A ADPRS ADSL AFF3 AFG3L2 AGBL5 AGK AGRN AGTPBP1 AHDC1 AHI1 AHR AIFM1 AIMP1 AIPL1 ALDH18A1 ALG1 ALG13 ALG2 ALG3 ALG8 ALMS1 ALS2 ALX4 ANK1 ANKRD11 ANO10 ANOS1 ANTXR1 AP3B1 AP3B2 AP3D1 AP4E1 APC APC2 APTX ARHGEF18 ARHGEF2 ARID1B ARL13B ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARV1 ARX ASAH1 ASH1L ASPA ATAD3A ATCAY ATF6 ATG5 ATM ATN1 ATOH7 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1B2 ATP6V1E1 ATPAF1 ATPAF2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B3GLCT B4GALNT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL7B BCOR BDNF BEAN1 BEST1 BLOC1S3 BLOC1S5 BLOC1S6 BMP4 BRAF BRAT1 BRCA1 BRCA2 BRD4 BRIP1 BUB1B BUD23 CA4 CABP4 CACNA1A CACNA1B CACNA1E CACNA1F CACNA1G CACNA1H CACNA2D1 CACNA2D2 CACNA2D4 CACNB4 CAMK2B CAMTA1 CAPN1 CARS1 CASK CASZ1 CAV1 CBL CBY1 CC2D2A CCDC141 CCDC28B CDH3 CDHR1 CDK19 CELF2 CENPE CEP104 CEP120 CEP164 CEP19 CEP290 CEP41 CEP78 CERKL CERS1 CFAP410 CFAP418 CHAT CHD7 CHD8 CHKA CHN1 CISD2 CLCN3 CLCN6 CLCN7 CLDN11 CLDN16 CLDN19 CLIP2 CLN3 CLN5 CLP1 CLPB CLRN1 CLTC CLTCL1 CLTRN CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 CNOT3 CNTNAP2 COG4 COL11A1 COL13A1 COL18A1 COL25A1 COQ2 COQ5 COX10 COX15 CP CPLANE1 CPLX1 CPSF3 CRB1 CREBBP CRIPT CRLS1 CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSF1R CSPP1 CTBP1 CTDP1 CTNNB1 CWF19L1 CYFIP2 CYP1B1 CYP27A1 CYP7B1 DAB1 DALRD3 DARS1 DARS2 DCC DCT DCX DDB1 DEGS1 DGUOK DHCR24 DHCR7 DHDDS DHX37 DHX38 DKK1 DLAT DNAJC12 DNAJC30 DNM1 DNM1L DNMBP DNMT1 DOHH DOLK DPAGT1 DPM1 DPP6 DPYD DTNBP1 DUSP6 EBP ECHS1 EDNRB EEF1A2 EEF2 EFNB1 EGR2 EIF2S3 EIF3F EIF4H ELN ELOVL1 ELOVL4 ELOVL5 EMC10 EP300 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 ERMARD ESCO2 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT2 EXTL3 EYS FA2H FAM149B1 FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FASTKD2 FAT2 FBN1 FBXL4 FBXO28 FCSK FDX2 FDXR FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FGFRL1 FKBP6 FLRT1 FLRT3 FMR1 FOCAD FOXC1 FOXE3 FOXG1 FOXL2 FOXP1 FOXRED1 FRMD5 FRMD7 FRMPD4 FRRS1L FSCN2 FUS FXN FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALNT2 GAN GATA1 GATA3 GBA1 GBA2 GCH1 GDAP2 GDF3 GDF6 GFAP GFER GFM1 GJA1 GJA8 GJB1 GJC2 GLRX5 GM2A GMPPA GMPPB GNAS GNAT1 GNAT2 GNB1 GNB3 GNB5 GOSR2 GPAA1 GPR143 GPR179 GRIA4 GRID2 GRIK2 GRIN2A GRIN2D GRK1 GRM1 GRM6 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D H3-3A HARS1 HCN1 HDAC8 HECW2 HESX1 HGSNAT HIBCH HID1 HIKESHI HK1 HLA-B HLA-DRB1 HMGB3 HMX1 HNRNPH1 HNRNPR HPDL HPS1 HPS3 HPS4 HPS5 HPS6 HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTT HUWE1 HYLS1 IARS2 IBA57 IDH1 IDH3A IDH3B IFIH1 IFRD1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT88 IGBP1 IL17RD IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E INPP5K IPO8 IQCB1 IQSEC2 IRF2BPL ISCA2 ITPR1 JAM2 JRK KANK1 KARS1 KATNIP KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNH1 KCNJ13 KCNK4 KCNMA1 KCNN2 KCNV2 KDM6A KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF1A KIF1B KIF1C KIF21A KIF2A KIF5A KIF7 KIZ KLC2 KLHL7 KMT2B KMT2D KRAS KRT10 KRT14 KRT5 L1CAM L2HGDH LAGE3 LAMA1 LAMB2 LARGE1 LCA5 LETM1 LIG4 LIM2 LIMK1 LMBRD2 LMNB1 LONP1 LRAT LRIT3 LRMDA LRP4 LRP5 LRPPRC LSM11 LUZP1 LYRM7 LYST LZTFL1 LZTR1 MAB21L1 MAB21L2 MAD1L1 MAD2L2 MAF MAFB MAG MAK MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MAPKAPK5 MARS2 MBTPS2 MC1R MCOLN1 MECR MED11 MED12 MERTK METTL27 MICOS13 MINPP1 MKKS MKS1 MLXIPL MMACHC MMADHC MME MMP23B MN1 MOCS1 MOCS2 MPC1 MPDU1 MPDZ MPLKIP MPV17 MPZ MRAS MRE11 MRPL12 MRPS34 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTFMT MTHFR MTPAP MTR MTRFR MTRR MTSS2 MVK MYO5A MYO7A MYO9A NAA10 NADK2 NAGA NAGLU NALCN NANS NARS2 NAXE NCAPG2 NCF1 NDNF NDP NDST1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEFL NEK2 NELFA NEU1 NFIX NHS NIPBL NKX6-2 NMNAT1 NOP56 NOTCH2NLC NPHP1 NPHP4 NPTX1 NR2E3 NR2F1 NR4A2 NRAS NRL NSD1 NSD2 NSUN2 NSUN3 NT5C2 NTNG2 NTRK2 NUBPL NUP54 NUP62 NUS1 NYX OCA2 OCLN OCRL OFD1 OGDHL OGT OPA1 OPA3 OPHN1 OPN1LW OPN1MW OPN1SW OSGEP OSTM1 OTUD5 OTX2 OXR1 P4HA2 P4HTM PACS1 PACS2 PAK2 PALB2 PANK4 PARS2 PAX2 PAX6 PAX7 PBX1 PCARE PCYT1A PCYT2 PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFRB PDP1 PDPN PDZD7 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PHF21A PHF6 PHGDH PHIP PHOX2A PHYH PI4KA PIBF1 PIGG PIGL PIGN PIGQ PIGS PIGT PIGU PIK3R5 PITX2 PLA2G6 PLAA PLD3 PLEKHG2 PLK4 PLP1 PLXNA1 PMM2 PMP22 PMPCA PNPLA6 PNPO PNPT1 POC1B POGZ POLG POLR3A POLR3B POLR3K POMGNT1 PORCN POU3F4 POU4F1 PPFIBP1 PPP1CB PPP1R21 PPP2R5D PPP3CA PRCD PRDM13 PRDM16 PRDX1 PRDX3 PRKCG PRKCZ PRKD1 PRNP PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRX PSAP PSAT1 PSMD12 PTCD3 PTPN11 PTPN22 PURA PUS3 PYCR2 RAB11B RAB18 RAD21 RAD51 RAD51C RAF1 RARS1 RASA2 RBL2 RBP3 RD3 RDH12 RECQL4 REEP6 REPS1 RERE RFC1 RFC2 RFWD3 RFX7 RGR RHO RHOA RIMS2 RIPOR2 RIT1 RLBP1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF216 RNU12 RNU4ATAC RNU7-1 ROBO1 ROBO3 ROM1 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RRAS RRAS2 RTN4IP1 RUBCN SACS SAG SALL2 SALL4 SAMD9L SAMHD1 SCAPER SCLT1 SCN1A SCN2A SCN3A SCN8A SCO2 SCUBE3 SDCCAG8 SDHA SDHAF1 SDHB SDHD SEMA3A SEMA3E SEMA4A SERPINI1 SETD2 SETX SH3TC2 SIGMAR1 SIL1 SIN3A SIX6 SKI SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A20 SLC25A24 SLC25A4 SLC25A46 SLC29A3 SLC2A1 SLC33A1 SLC35A1 SLC35A2 SLC35B2 SLC38A3 SLC38A8 SLC39A8 SLC45A2 SLC4A11 SLC52A2 SLC5A6 SLC5A7 SLC6A19 SLC6A3 SLC6A6 SLC7A14 SLC9A1 SLC9A6 SLX4 SMC1A SMC3 SMPD1 SNAP25 SNIP1 SNRNP200 SNRPN SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX2 SOX3 SPART SPAST SPATA5 SPATA7 SPEN SPG11 SPG7 SPRED2 SPRY4 SPTBN2 SPTBN4 SPTLC1 SQSTM1 SRD5A3 SREBF1 SRPX2 SRY STUB1 STX16 STX1A STX3 SUFU SUPT16H SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACR3 TAF1 TAF2 TANGO2 TAOK1 TARS1 TAT TBC1D24 TBCD TBCK TBL1XR1 TBL2 TBP TCEAL1 TCIRG1 TCTN1 TCTN2 TCTN3 TDP1 TELO2 TENM3 TET3 TFAP2A TGM6 THG1L THOC2 TIMMDC1 TINF2 TKFC TMEM106B TMEM126A TMEM126B TMEM138 TMEM163 TMEM216 TMEM218 TMEM231 TMEM237 TMEM240 TMEM270 TMEM63A TMEM63C TMEM67 TNFRSF11A TNFSF11 TOE1 TOGARAM1 TONSL TOPORS TPK1 TPP1 TRAF3IP1 TRAK1 TRAPPC6B TREX1 TRIM32 TRIM44 TRIP13 TRPM1 TRPV6 TSPAN7 TTBK2 TTC19 TTC8 TTPA TTR TUB TUBA1A TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP4 TUBGCP6 TUFM TULP1 TWNK TYR TYRP1 UBA5 UBAP1 UBE2T UBE3A UBE3B UBE4B UCHL1 UGP2 UNC80 UROC1 USH1C USH2A USP45 USP7 USP8 VAMP1 VLDLR VPS13B VPS13D VPS33A VPS37D VPS41 VRK1 VWA3B WARS2 WDPCP WDR11 WDR19 WDR35 WDR45 WDR48 WDR73 WFS1 WHRN WT1 WWOX XRCC1 XRCC2 XRCC4 XYLT2 YAP1 YARS1 YARS2 YWHAG ZFYVE26 ZNF292 ZNF408 ZNF423 ZNF513 ZNF699 HP_ABNORMAL_IRIS_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IRIS_PIGMENTATION ACTB ACTG1 ADAMTSL4 ADGRV1 AKT1 AP3B1 AP3D1 ARSG ATP10A BAZ1B BCL7B BEST1 BLOC1S3 BLOC1S5 BLOC1S6 BUD23 C1QTNF5 CASZ1 CDH23 CEP78 CHN1 CHRDL1 CIB2 CLIP2 CLRN1 COL18A1 CPAMD8 DCT DNAJC30 DTNBP1 EDC3 EDN3 EDNRB EIF4H ELN ELP1 EPG5 ESPN FKBP6 GABRD GATA1 GNAQ GPR143 GTF2I GTF2IRD1 GTF2IRD2 HARS1 HERC2 HPS1 HPS4 HPS5 HPS6 HRAS HSPG2 IMPG1 IMPG2 KANSL1 KCNAB2 KIT KITLG LIMK1 LMX1B LRMDA LUZP1 LYST MAFB MAGEL2 MAPK1 MC1R METTL27 MITF MKRN3 MLPH MLXIPL MMP23B MT-TS2 MYH11 MYO5A MYO7A NCF1 NDN NPAP1 OCA2 PAH PAX3 PCDH15 PDE4D PDPN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PITX2 PNPLA6 PRDM16 PRKAR1A PRKCZ PRPH2 PRR12 PTEN PWAR1 PWRN1 RAB27A RERE RFC2 RLIM SALL4 SKI SLC24A5 SLC45A2 SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 SPEN STX1A TBL2 TMEM270 TP63 TYR TYRP1 UBE3A UBE4B USH1C USH1G USH2A VPS37D WDR45 WHRN XYLT2 HP_ABNORMAL_ISCHIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ISCHIUM_MORPHOLOGY ABCC9 ALG9 CAV1 CCDC8 CCN2 CCR6 CDCA7 COL11A1 COL11A2 COL2A1 CUL7 EXTL3 FGFR2 HLA-DRB1 HSPG2 IFT43 INPPL1 IRF5 KAT6B KIAA0319L LIFR OBSL1 PAM16 TBX15 TMEM53 TRIP11 HP_ABNORMAL_ISOHEMAGGLUTININ_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ISOHEMAGGLUTININ_LEVEL ARHGEF1 CD19 CD79A CR2 MALT1 PRKCD SLC35C1 HP_ABNORMAL_JAW_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JAW_MORPHOLOGY AARS1 ABAT ABCD1 ABCD4 ABL1 ACAN ACTA1 ACTA2 ACTB ACTG1 ACTG2 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAMTSL4 ADAT3 ADGRG1 ADGRG6 AEBP1 AFF3 AFF4 AGA AGPAT2 AGRN AHDC1 AIMP2 AIP AKT1 ALDH1A2 ALG1 ALG11 ALG12 ALG13 ALG14 ALG9 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC7 ANK1 ANKH ANKLE2 ANKRD11 ANKRD55 ANO5 ANTXR1 AP1S2 AP2M1 AP3D1 AP4M1 APC APC2 ARCN1 ARHGAP29 ARHGEF38 ARID1B ARID2 ARL6IP6 ARNT2 ARSL ARVCF ARX ASNS ASPH ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATP10A ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAZ1B BCAP31 BCL11A BCL11B BCL7B BDNF BGN BICD2 BICRA BIN1 BLM BLTP1 BMP2 BMP4 BMPER BNC2 BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BSCL2 BUB1 BUB1B BUB3 BUD23 C12orf57 C1R C1S C2CD3 CA2 CACNA1C CACNA1G CAMTA1 CANT1 CARS1 CASK CAV1 CAVIN1 CBFB CBL CC2D2A CCBE1 CCDC22 CCDC32 CCDC88A CCNK CD247 CD96 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH1 CDH11 CDK5 CDKN1C CDT1 CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP290 CEP55 CEP57 CFL2 CHAT CHD5 CHD7 CHD8 CHN1 CHRNA1 CHRND CHRNE CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCF1 CLCN3 CLCN4 CLCN7 CLIC2 CLIP2 CLPB CLTCL1 CNOT2 CNOT3 CNTN1 CNTNAP1 COASY COBLL1 COG1 COG4 COG5 COG6 COG7 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC11 COLQ COMT COX7B CPE CPLANE1 CPLX1 CREB3L1 CREBBP CRIPT CRLF1 CRPPA CRTAP CSGALNACT1 CSNK2A1 CSNK2B CSPP1 CTBP1 CTC1 CTDP1 CTNND2 CTSK CTU2 CUL4B CUL7 CWC27 D2HGDH DCHS1 DDB1 DDR2 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHODH DHX30 DICER1 DIS3L2 DKC1 DLG1 DLK1 DLX4 DNA2 DNAJC21 DNAJC30 DNMT3A DNMT3B DOCK3 DOCK6 DOK7 DONSON DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L EBP ECEL1 EDA EDEM3 EDN1 EDNRA EED EFEMP2 EFTUD2 EHMT1 EIF4A3 EIF4H EIF5A ELN EMC1 EMG1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERMARD ESCO2 ESS2 EXOC7 EXOSC1 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAT4 FBN1 FBN2 FBXL3 FBXO28 FBXO31 FBXW11 FDFT1 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP6 FKRP FKTN FLCN FLII FLNA FLNB FLVCR2 FMR1 FOCAD FOS FOXC1 FOXC2 FOXE1 FOXE3 FOXF1 FOXG1 FOXP1 FOXP2 FRA10AC1 FRMPD4 FTO FUT8 FZD2 GABRA3 GAD1 GALNS GATA1 GATA4 GATAD2B GBA1 GDF11 GEMIN4 GFPT1 GHR GJA1 GJA5 GJA8 GLB1 GLDN GLE1 GLI2 GLI3 GMNN GNA11 GNAI3 GNB2 GNPAT GNPTAB GOLGA2 GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GRB10 GRHL3 GRIA3 GRIA4 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C3 H4C5 H4C9 HACD1 HBA1 HBA2 HBB HCCS HDAC6 HDAC8 HEATR3 HECTD4 HELLS HERC1 HERC2 HEY2 HIRA HMGA2 HMX1 HNF1B HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXB1 HPDL HRAS HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 HYLS1 HYMAI HYOU1 IARS2 IBA57 IDH1 IDS IDUA IFIH1 IFT140 IFT43 IFT80 IGBP1 IGF1 IGF1R IGF2 IGFALS IL11RA IL1RAPL1 IL2RA IL2RB IL6ST INSR INTS1 INTU IPO8 IQSEC2 IRF6 IRX5 ITGA7 ITGA8 JARID2 JMJD1C KAT5 KAT6A KAT6B KATNB1 KBTBD13 KCNC2 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNK9 KCNMA1 KCNN3 KCTD1 KDM4B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIDINS220 KIF11 KIF14 KIF15 KIF21A KIF26A KIF7 KIFBP KLHL41 KMT2A KMT2B KMT2D KNL1 KPTN KRAS LAGE3 LAMA2 LAMB2 LARGE1 LAS1L LBR LEMD2 LEMD3 LETM1 LGI4 LIFR LIG4 LIMK1 LMBRD2 LMNA LMOD3 LOX LRP4 LRP5 LRPPRC LRRC32 LTBP3 LTBP4 LZTR1 MAD1L1 MAD2L2 MADD MAF MAFB MAGEL2 MAMLD1 MAN2B1 MAN2C1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MAT2A MBD5 MCM5 MCTP2 MECP2 MED12 MED13L MED25 MEG3 MEGF8 MEN1 MESD METTL27 MFAP5 MGAT2 MIA3 MID1 MINPP1 MIPEP MITF MKS1 MLXIPL MMP2 MOGS MPLKIP MRAS MRPS22 MSL3 MSTO1 MSX1 MTM1 MTX2 MUSK MYBPC1 MYCN MYH11 MYH3 MYH7 MYH8 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NARS1 NBN NCAPG2 NCF1 NDE1 NDST1 NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK9 NELFA NEPRO NEXMIF NF1 NFASC NFIX NHP2 NHS NIPBL NOP10 NOTCH2 NOTCH3 NPM1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE2 NSRP1 NSUN2 NUDT2 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OCA2 OCLN OCRL ODC1 OFD1 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B OTX2 P4HB P4HTM PAH PAK2 PALB2 PARN PAX1 PAX3 PAX6 PAX7 PCDHGC4 PCGF2 PCNT PDE4D PDE6D PDGFRA PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM1 PHF21A PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3R1 PITX2 PKDCC PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB4 PLK4 PLVAP PLXND1 PMM2 PNKD POC1A POGZ POLA1 POLD1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 PPARG PPP1R12A PPP1R15B PPP3CA PQBP1 PRDM13 PREPL PRIM1 PRKACA PRKACB PRKAR1A PRKG1 PRKG2 PRMT7 PRORP PRR12 PRRT2 PRRX1 PRUNE1 PSAT1 PSMC1 PSMD12 PSPH PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PUF60 PURA PUS1 PUS7 PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RDH11 RECQL RECQL4 RELN RERE REV3L RFC2 RFT1 RFWD3 RFX7 RHOBTB2 RIC1 RIN2 RIPK4 RIT1 RLIM RMRP RNF113A RNF125 RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSRC1 RTEL1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SALL4 SATB2 SC5D SCARF2 SCN4A SCN9A SCNM1 SCYL2 SEC23A SEC24C SEC24D SEC31A SELENON SEMA5A SERPINH1 SETBP1 SETD2 SETD5 SF3B2 SF3B4 SFRP4 SH2B1 SH3BP2 SH3PXD2B SHANK3 SHOX SIM1 SIN3A SIX1 SIX3 SIX5 SKI SLC10A7 SLC12A2 SLC12A6 SLC18A3 SLC25A1 SLC25A19 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35A2 SLC35A3 SLC35B2 SLC35C1 SLC37A4 SLC3A1 SLC5A7 SLC6A17 SLC6A8 SLC6A9 SLC9A6 SLX4 SMAD2 SMAD3 SMAD4 SMC1A SMC3 SMC5 SMG8 SMO SMOC1 SMPD4 SMS SNAP25 SNIP1 SNRPB SNRPN SOBP SON SOS1 SOS2 SOST SOX18 SOX5 SOX6 SOX9 SP7 SPATA5 SPATA5L1 SPECC1L SPEG SPEN SPOP SPRED1 SPRED2 SPRTN SRCAP SRPX2 SRY SSR4 STAC3 STAG1 STAG2 STAMBP STAT4 STEEP1 STRA6 STT3A STX1A SUFU SUPT16H SUZ12 SVIL SYT2 TAB2 TAF1 TAFAZZIN TAPT1 TARS1 TASP1 TBC1D20 TBC1D2B TBC1D7 TBCD TBCE TBCK TBL2 TBX1 TBX15 TBX4 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TERC TERT TFAP2A TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THOC6 THSD4 THUMPD1 TINF2 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TNFSF11 TNNI2 TNNT3 TNPO2 TNRC6B TOE1 TONSL TOPORS TOR1A TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRIO TRIP11 TRIP13 TRIP4 TRMT1 TRMT10A TRPM3 TRPS1 TRRAP TSEN54 TSR2 TTN TUBA1A TUBB TUBB3 TUBGCP2 TWIST1 TWIST2 TXNDC15 TXNL4A TYMS UBA1 UBA2 UBB UBE2T UBE3A UBE3B UFD1 UNC80 UPF3B USB1 VAC14 VAMP1 VARS1 VPS13A VPS13B VPS33B VPS35L VPS37D VPS53 WASHC5 WBP11 WDR11 WDR26 WDR35 WDR4 WDR62 WDR73 WLS WNT3 WNT5A WNT7A WRAP53 WT1 XRCC2 XRCC4 YARS1 YARS2 YRDC YY1 ZBTB11 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZMIZ1 ZMPSTE24 ZNF292 ZNF335 ZNF341 ZNF668 ZNF699 ZNHIT3 HP_ABNORMAL_JEJUNUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JEJUNUM_MORPHOLOGY AP1S1 CENPF MIR17HG MYCN PI4KA PPP1R12A RFX6 SLC25A12 TTC7A ZNF699 HP_ABNORMAL_JOINT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JOINT_MORPHOLOGY AARS1 ABCC6 ABCC9 ABCD1 ABCG8 ACAN ACP5 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADA2 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADGRG1 ADGRG6 ADGRV1 ADNP AEBP1 AFF3 AFF4 AGA AGRN AIFM1 AIP AKT1 ALAD ALDH18A1 ALG12 ALG14 ALG2 ALG3 ALG9 ALPK3 ALPL ALX1 ALX3 AMER1 ANAPC1 ANGPT2 ANK1 ANKH ANKLE2 ANKRD11 ANKRD55 ANO10 ANO5 ANTXR2 AP1S3 AP2S1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 APOE ARF1 ARFGEF2 ARID1B ARL6IP1 ARNT2 ARPC4 ARSB ARSK ARSL ARVCF ASAH1 ASH1L ASPH ASPN ASXL1 ASXL2 ASXL3 ATAD1 ATL1 ATL3 ATP5F1D ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATR ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 BAG3 BANF1 BANK1 BAZ1B BCL7B BCOR BCR BGN BHLHA9 BICD2 BICRA BIN1 BLK BLNK BMP1 BMP2 BMP6 BMPER BMPR1B BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BTK BTNL2 BUD23 C12orf57 C18orf32 C19orf12 C1QB C1R C1S C2orf69 C4A C4B CADM3 CAMK2A CANT1 CAPN1 CAPN3 CARS1 CASP10 CASZ1 CAV1 CBFB CBL CBS CCBE1 CCDC22 CCDC47 CCDC8 CCDC88C CCN2 CCN6 CCR1 CCR6 CD244 CD247 CD40LG CD79A CD79B CD96 CDC45 CDC6 CDC73 CDH11 CDH3 CDON CDT1 CENPJ CENPT CEP120 CEP85L CFI CFL2 CHAT CHD4 CHD7 CHEK2 CHMP1A CHN1 CHRM3 CHRNA1 CHRNB1 CHRND CHRNG CHST11 CHST14 CHST3 CHSY1 CHUK CIITA CLCF1 CLCN3 CLCN5 CLCN7 CLCNKB CLIP2 CLTCL1 CNTN1 CNTNAP1 COG1 COG4 COG5 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP COMT COPA COX11 COX8A CPLX1 CPT2 CR2 CREBBP CRKL CRLF1 CRTAP CSGALNACT1 CSPP1 CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNS CUL4B CUL7 CYP19A1 CYP26B1 CYP27A1 CYP27B1 CYP2R1 CYP3A4 CYP7B1 DAG1 DCC DCHS1 DCLRE1C DDB2 DDR2 DDRGK1 DHCR24 DHCR7 DHODH DHX16 DISP1 DKC1 DKK1 DLK1 DLL1 DLL3 DMD DMP1 DNAJB11 DNAJC21 DNAJC30 DNAL4 DNASE1 DNASE1L3 DNASE2 DNMT3A DOK7 DONSON DPAGT1 DPM1 DPYSL5 DSE DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2LI1 DYNLT2B DYRK1A DYSF EBP ECE1 ECEL1 EED EFEMP2 EFL1 EFNB1 EIF2AK3 EIF4A3 EIF4H ELF4 ELN ELP1 EMD EMG1 EMILIN1 ENPP1 EP300 EPB42 EPCAM ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 ETS1 EVC EVC2 EXOC6B EXOSC3 EXT1 EXT2 EXTL3 EYA1 EZH2 F10 F11 F13A1 F13B F2 F5 F7 F8 F9 FA2H FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXO28 FBXW11 FCGR2A FCGR2B FCGR3B FDFT1 FERMT1 FGA FGB FGD1 FGF10 FGF13 FGF16 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FGG FHL1 FIG4 FKBP10 FKBP6 FKRP FKTN FLI1 FLNA FLNB FLNC FLT4 FLVCR1 FLVCR2 FN1 FOXH1 FOXP3 FRZB FUT8 FUZ FXYD2 FZD2 G6PC1 GABRA1 GABRD GABRG2 GALC GALNS GAN GARS1 GAS1 GATA1 GBA1 GBA2 GCDH GCH1 GCM2 GDAP1 GDF3 GDF5 GDF6 GEMIN4 GET4 GFM2 GFPT1 GGCX GHR GJA1 GJB2 GJB6 GJC2 GLA GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLRA1 GLRB GMNN GMPPB GNA11 GNAS GNB1 GNB2 GNE GNPTAB GNPTG GNS GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GPR101 GPX4 GRB10 GRIA3 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB GZF1 H3-3B H4C9 HACD1 HACE1 HAMP HBB HCN1 HDAC4 HDAC8 HEATR3 HEPHL1 HERC2 HES7 HFE HGD HINT1 HIRA HJV HK1 HLA-B HLA-C HLA-DRB1 HNF1B HNRNPA1 HNRNPH1 HOXA11 HOXA13 HOXD10 HOXD13 HPGD HPRT1 HRAS HS2ST1 HS6ST1 HSPB1 HSPG2 HTT HYAL1 IARS2 IDH1 IDS IDUA IFIH1 IFITM5 IFNGR1 IFT172 IFT52 IFT57 IGF2 IGHG1 IGHG2 IGHM IGHMBP2 IGKC IGLL1 IHH IKBKG IL10 IL12A IL12A-AS1 IL12B IL1RN IL23R IL2RA IL2RB IL36RN IL6 IL6ST IMPDH2 INF2 INPP5K INPPL1 IPO8 IRAK1 IRF4 IRF5 IRF6 IRX5 ITCH ITGA6 ITGA7 ITGAM ITGB4 JAG2 JARID2 JAZF1 JMJD1C KANSL1 KAT6A KAT6B KCNAB2 KCNJ1 KCNK9 KDM5B KDM5C KDM6A KIAA0319L KIAA0586 KIAA0753 KIDINS220 KIF14 KIF1A KIF1C KIF21A KIF22 KIF5A KIF7 KLC2 KLHL41 KLHL9 KLRC4 KMT2A KMT2B KMT2D KNSTRN KPNA3 KRAS KRT1 KRT14 KRT16 KRT5 KRT9 KY L1CAM LACC1 LAGE3 LAMA2 LAMA5 LAMB2 LAMB3 LARGE1 LARS2 LBR LEMD3 LETM1 LFNG LGI4 LIFR LIMK1 LMAN1 LMBR1 LMBRD2 LMNA LMNB2 LMOD3 LMX1B LONP1 LPIN2 LRBA LRP4 LRP6 LRRC8A LSM11 LTBP1 LTBP3 LUZP1 LYSET LZTR1 MAB21L2 MACF1 MACROH2A1 MAD2L2 MADD MAF MAFB MAGEL2 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MARS1 MASP1 MATN3 MBTPS1 MBTPS2 MCFD2 MCOLN1 MCTP2 MECOM MECP2 MED12 MED25 MEFV MEG3 MEGF10 MEGF8 MEN1 MEOX1 MESP2 MET METTL27 MFN2 MIA3 MIF MIR140 MKKS MKRN3 MKS1 MLX MLXIPL MMP13 MMP14 MMP2 MMP23B MMP9 MORC2 MPLKIP MPZ MRAS MTHFD1 MTX2 MUC1 MUSK MVK MYBPC1 MYD88 MYH14 MYH3 MYH8 MYL1 MYL11 MYL2 MYO18B MYO9A MYOD1 MYOT NAA10 NADSYN1 NAE1 NALCN NANS NCF1 NDRG1 NDUFAF6 NDUFS8 NEB NEDD4L NEFL NEPRO NF1 NFATC2 NFIX NFKBIL1 NGF NGLY1 NHP2 NIN NIPA1 NIPBL NKX3-2 NLRP1 NLRP12 NLRP3 NOD2 NODAL NOG NONO NOP10 NOTCH2 NOTCH3 NPAP1 NPR2 NR4A2 NRAS NRCAM NSD1 NSD2 NSDHL NT5C2 NTN1 NTRK1 NUP107 NUP133 NUP88 NXN OBSL1 OCA2 OCRL OFD1 OPA3 ORAI1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTULIN P4HA2 P4HTM PAFAH1B1 PALB2 PAM16 PAX3 PCDH19 PCNT PDCD1 PDE4D PDGFRB PDPN PDXK PEPD PERCC1 PEX1 PEX16 PEX2 PEX5 PEX6 PFKM PHEX PHGDH PI4KA PIEZO1 PIEZO2 PIGA PIGL PIGT PIGV PIGY PIK3C2A PIK3CD PIK3R1 PIK3R2 PITX1 PKDCC PLA2G6 PLAU PLCH1 PLEC PLEKHG5 PLOD1 PLOD2 PLOD3 PMP22 PNPT1 POFUT1 POGLUT1 POLR1A POLR1D POLR3A POLR3B POLR3GL POLRMT POMT1 POMT2 POP1 POR PORCN POU3F4 PPP1CB PPP2R3C PPP2R5D PQBP1 PRDM16 PRG4 PRKACA PRKACB PRKAR1A PRKCD PRKCZ PRKG2 PRMT7 PRPS1 PRR12 PSAP PSAT1 PSENEN PSMB4 PSMB8 PSMB9 PSMD12 PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PTRH2 PUF60 PUS3 PWAR1 PWRN1 PXK PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAPSN RASA2 RASGRP1 RB1 RBM8A RECQL4 REEP1 RERE RETREG1 RFC2 RFWD3 RIGI RINT1 RIPK4 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNU12 RNU4ATAC RNU7-1 ROR2 RPGRIP1L RPL10 RPL13 RPL26 RPS15A RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTN2 RTTN RUNX2 RYR1 RYR3 SALL1 SALL4 SAMD9L SAMHD1 SAT1 SATB2 SBDS SCARB2 SCARF2 SCN1A SCN1B SCN2A SCN4A SCN9A SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC31A SEC61A1 SELENOI SELENON SERPINE1 SERPINF1 SERPINF2 SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SFRP4 SGCA SH3KBP1 SH3PXD2B SHH SHOC2 SHOX SHROOM4 SIGMAR1 SIK3 SIL1 SIN3A SIX1 SIX3 SIX6 SKI SLC10A7 SLC12A1 SLC12A2 SLC12A3 SLC16A2 SLC18A3 SLC1A4 SLC22A4 SLC25A1 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC34A2 SLC34A3 SLC35A2 SLC35A3 SLC35B2 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC39A7 SLC39A8 SLC40A1 SLC4A1 SLC52A3 SLC5A7 SLC6A5 SLC6A9 SLCO2A1 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCAD1 SMARCAL1 SMC1A SMC3 SMG9 SMO SMOC1 SNAP25 SNORD115-1 SNORD116-1 SNRPB SOD1 SOS1 SOS2 SOX2 SOX5 SOX9 SPARC SPART SPAST SPEG SPEN SPG11 SPI1 SPP1 SPRED2 SPRTN SPTA1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTLC1 SPTLC2 SRCAP SRD5A3 SRP54 SRY SSR4 STAG1 STAG2 STAT3 STAT4 STIL STT3A STUB1 STX1A STX1B STXBP1 SUFU SUZ12 SVIL SYK SYNE1 SYNE2 SYT2 TARS1 TBC1D2B TBC1D7 TBCD TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX5 TBX6 TCEAL1 TCF12 TCF3 TCTN3 TDGF1 TDO2 TELO2 TF TFAP2A TFAP2B TFE3 TFR2 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC2 THRA THSD4 TIMM22 TIMM8A TLK2 TLR4 TLR7 TMCO1 TMEM218 TMEM222 TMEM270 TMEM43 TMEM67 TMEM70 TMTC3 TNFAIP3 TNFRSF11B TNFRSF1A TNFSF11 TNFSF4 TNIP1 TNNI2 TNNT1 TNNT3 TNXB TOM1 TONSL TOR1A TOR1AIP1 TP53 TP53RK TP63 TPM2 TPM3 TPRKB TRAPPC12 TRAPPC2 TREX1 TRIM2 TRIM8 TRIP11 TRPS1 TRPV4 TTC26 TTN TUBA1A TUBB3 TWIST1 TWIST2 UBA1 UBA2 UBAC2 UBE2A UBE2L3 UBE2T UBE3A UBE3B UBE4B UBR7 UCHL1 UFC1 UFD1 UFSP2 UGP2 UMOD UNC80 UPF3B UROS USP9X VAC14 VAMP1 VANGL1 VARS1 VCP VDR VPS13A VPS13B VPS33A VPS37D VWF WAS WASF1 WBP11 WDR11 WDR19 WDR35 WDR4 WDR62 WDR73 WIPF1 WNK1 WNT4 WNT5A WNT7A WRN XPA XPC XRCC2 XYLT1 YRDC YWHAE YY1 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFYVE27 ZIC1 ZIC2 ZIC3 ZMPSTE24 ZNF407 ZNF469 ZNF687 ZNF699 ZPR1 ZSWIM6 HP_ABNORMAL_KNEE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_KNEE_MORPHOLOGY ACAN ACTA1 ADNP AIFM1 ALG14 ALG2 ANAPC1 ANKLE2 ANKRD55 ARF1 ARFGEF2 ARID1B ARSB ARSK ARVCF ATP6V1E1 ATP7A ATRX B3GALT6 B3GAT3 BAG3 BAZ1B BCL7B BCOR BGN BHLHA9 BICD2 BPNT2 BRAF BRF1 BUD23 C19orf12 CAMK2A CANT1 CBFB CBS CCN6 CD247 CDC45 CDC6 CDT1 CENPT CFL2 CHRNB1 CHRNG CHST11 CHST3 CLCN7 CLIP2 CNTNAP1 COG5 COL10A1 COL11A1 COL12A1 COL1A1 COL1A2 COL25A1 COL2A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COMP COMT COX11 CPT2 CREBBP CSGALNACT1 CTC1 CTNS CYP19A1 CYP27B1 CYP2R1 CYP3A4 DDR2 DDRGK1 DHX16 DMD DMP1 DNAJC30 DNMT3A DONSON DPAGT1 DPM1 DYM DYNC2LI1 EBP EFL1 EIF2AK3 EIF4H ELN EMD ENPP1 EP300 ERCC1 ERCC6 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 FBN1 FBN2 FDFT1 FGFR3 FHL1 FKBP10 FKBP6 FLNA FLNB FN1 FZD2 GALNS GAN GDF5 GFPT1 GJB2 GJB6 GLB1 GLI1 GLI3 GMNN GMPPB GNB2 GNPTAB GNPTG GP1BB GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HACD1 HBB HEATR3 HERC2 HIRA HPGD HS2ST1 HS6ST1 HSPG2 HYAL1 IARS2 IDH1 IDUA IFIH1 IFT172 IFT57 IHH IL2RA IL2RB IL6ST IPO8 ITGA7 JAG2 JMJD1C KAT6A KAT6B KIF22 KIF7 KLHL41 KRAS KY LBR LGI4 LIFR LIMK1 LMBR1 LMBRD2 LMOD3 LMX1B LONP1 LTBP1 MAB21L2 MAGEL2 MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAPK8IP3 MATN3 MCTP2 MEGF10 MEGF8 METTL27 MIA3 MKRN3 MLXIPL MMP13 MMP9 MPZ MTX2 MYH3 MYL1 MYL11 MYL2 MYO9A NALCN NCF1 NDUFAF6 NEB NEDD4L NEPRO NF1 NFATC2 NKX3-2 NLRP3 NOTCH2 NPAP1 NSD1 NT5C2 OCRL ORC1 ORC4 ORC6 P4HTM PEPD PHEX PI4KA PIEZO2 PIGA PIGY PIK3R2 PITX1 PKDCC PLOD1 PLOD2 PMP22 POLR3A POLRMT PRG4 PRKACA PRKACB PRKG2 PRMT7 PSAT1 PSTPIP1 PTDSS1 PTH1R PTPN2 PTPN22 PUS3 PWAR1 PWRN1 RAB23 RAB33B RAD21 RBM8A RECQL4 RFC2 RMRP RNU4ATAC RPGRIP1L RPL10 RPL13 RREB1 RSPRY1 RTTN RUNX2 RYR1 SCARF2 SCN4A SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SELENON SERPINH1 SF3B2 SFRP4 SHH SHOX SIK3 SKI SLC10A7 SLC18A3 SLC25A46 SLC26A2 SLC39A8 SLCO2A1 SMAD2 SMAD3 SNAP25 SNORD115-1 SNORD116-1 SOX9 SPART SPTBN1 SRD5A3 STAT4 STX1A STXBP1 SVIL SYT2 TBC1D7 TBL2 TBX1 TBX4 TCTN3 TELO2 TFE3 TGDS TGFB1 TMEM270 TMTC3 TNFSF11 TONSL TPM2 TPM3 TRAPPC2 TRIM2 TRIP11 TRPS1 TRPV4 TUBB3 UBA1 UBR7 UFC1 UFD1 UFSP2 UGP2 UNC80 USP9X VDR VPS13B VPS37D WDR62 WNT7A XYLT1 YY1 ZBTB20 ZEB2 ZNF699 ZPR1 ZSWIM6 HP_ABNORMAL_KNEE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_KNEE_PHYSIOLOGY ADGRV1 AEBP1 ALDH18A1 ANO5 AP4B1 AP4E1 AP4M1 AP4S1 ASAH1 ATP7A B3GAT3 B4GALT7 BMP1 BPNT2 CANT1 CDT1 CFL2 CHST3 COL1A1 COL1A2 COL2A1 COL5A1 COL9A3 COMP CSGALNACT1 CTDP1 DPYSL5 DYM DYSF ECEL1 ELN EXOC6B EXT1 EXT2 EZH2 FBLN5 FBN1 FBN2 FGD1 FGFR3 FLNA FLNB FLNC GABRA1 GABRD GABRG2 GPC6 GRIA3 HCN1 HGD HNRNPH1 HRAS KRAS LMX1B MAN2C1 MAP3K7 MCOLN1 MEFV MYOT NRAS ORC1 PCDH19 PDGFRB PRR12 PTEN RYR1 SCN1A SCN1B SCN2A SCN9A SH3PXD2B SKI SLC10A7 SLC35A3 SLC35B2 SLC6A9 STX1B SYNE1 TNFRSF1A TOR1A TRIP11 TTC26 VCP WASF1 XYLT1 HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY AR B3GLCT BRD4 CDC45 CDC6 CDT1 CHRNG CTCF DVL1 DVL3 ECEL1 ESR2 FGFR2 FIG4 FZD2 GAD1 GMNN HDAC8 HSD3B2 IRF6 LIPE MYH3 NIPBL NR5A1 ORC1 ORC4 ORC6 PMM2 POR PPP2R3C RAB3GAP2 RAD21 RIPK4 ROR2 SETBP1 SLC25A24 SMC1A SMC3 SMCHD1 TP63 TWIST2 UBE3B VAC14 WNT5A HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY ACTB ATIC CDC45 CDC6 CDT1 DVL1 DVL3 ESCO2 FGFR2 FZD2 GAD1 GMNN HERC2 KAT6B MAGEL2 MKRN3 NDN NPAP1 OCA2 ORC1 ORC4 ORC6 POR PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 SETBP1 SIM1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TWIST2 WNT5A ZFPM2 HP_ABNORMAL_LABIA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MORPHOLOGY ACTB AGPAT2 AR ATIC B3GLCT BRD4 BSCL2 CCNQ CDC45 CDC6 CDT1 CHD7 CHRNG CTCF DHX37 DMRT3 DVL1 DVL3 ECEL1 ESCO2 ESR2 FGFR2 FIG4 FZD2 GAD1 GATA4 GMNN HDAC8 HERC2 HNRNPR HSD3B2 HYMAI INSR IRF6 KAT6B LIPE LMNA MAGEL2 MAP3K1 MKRN3 MYH3 NDN NIPBL NPAP1 NR0B1 NR5A1 OCA2 ORC1 ORC4 ORC6 PLAGL1 PMM2 POR PORCN PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RIPK4 ROR2 SEMA3E SETBP1 SIM1 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN SOX9 SRY TBC1D20 TP63 TWIST2 UBE3B VAC14 VAMP7 WNT5A WT1 WWOX ZFPM2 HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY CD151 COL3A1 CREBBP EP300 EYA1 FGF10 FGFR2 FGFR3 FOXL2 FRAS1 FREM1 FREM2 GRIP1 HMX1 IGSF3 KAT6A KMT2D KNSTRN MED12 MEGF8 NDUFB11 NHP2 NOP10 PAX1 PAX3 PIK3CD PPP1CB PRR12 PTDSS1 SIX1 SIX5 SMC3 SMC5 SMCHD1 SOX6 SPRED2 TAF1 TCOF1 TET3 TFAP2A TGDS TP63 TRRAP USB1 YY1 HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY BTNL2 FGF10 FGFR2 FGFR3 FOXL2 GJB2 GJB6 HLA-DRB1 SLC25A24 SOX10 HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY FGF10 FGFR2 FGFR3 FOXL2 PPP2R3C TP63 UBR1 HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL ABCG8 ACAD9 ACADM AIFM1 AKR1D1 ALDOA B3GALNT2 B4GAT1 CALR CAV3 CBLIF CD46 CDAN1 CFH CFI CHEK2 COL4A1 CPT2 CRPPA DAG1 DHFR FKRP FKTN FLI1 GAA GATA1 GATA2 HBB HELLPAR HLA-DRB1 HMGCS2 HMOX1 INPP5K IRAK1 JAK2 KCNN4 KIF23 KLF1 KY LARGE1 LDHA LDHB LIPA LPIN1 LYST MLIP MPL MT-CO1 MT-CO3 MTHFD1 MVK MYC NSUN2 OBSCN OCRL PEX2 PFKM PIEZO1 PIGA PIK3CG PITRM1 PLA2G6 PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RB1 RHAG RHCE RHD RPS14 RXYLT1 SAT1 SIL1 SLC19A1 SLC25A13 SLC4A1 SLC7A7 SPP1 STAT4 STIM1 TCIRG1 TET2 TP53 USB1 VPS13A XK ZNFX1 HP_ABNORMAL_LANGUAGE_FEATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LANGUAGE_FEATURE ACTB ACTG1 ADAMTS2 ADAMTSL2 ADNP AMER1 ATP6AP2 CHD8 CHMP2B CKAP2L COL1A1 COL1A2 COX7B CYLD EHMT1 FGFR1 FLCN GRIK2 GRN HCCS HDC HERC2 KRAS MAPT NAGS NDUFB11 PANK2 PDZD8 PLEC PSEN1 PUF60 RAI1 SLC25A13 SLC35C1 SLITRK1 SMARCA2 SNAP25 SPTBN1 SQSTM1 TCF4 TMEM106B TREM2 UBE2A VCP XPR1 HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY AAGAB ABCB1 ACADVL ACTG2 ADA2 AKT1 AP1S1 APC ARPC1B AURKA AXIN2 BACH2 BAX BAZ1B BCL10 BCL7B BCOR BLM BMPR1A BRAF BRCA1 BRCA2 BUB1 BUB1B BUB3 BUD23 C1S CARD11 CARD8 CARMIL2 CASP10 CCBE1 CCND1 CCNQ CDK8 CDKN2A CEACAM3 CEACAM6 CEP57 CFTR CHEK2 CIITA CLCA4 CLIP2 COG6 COL14A1 COL1A1 COL5A1 COL5A2 COX7B CTLA4 CTNNB1 CYBA CYBB CYBC1 DACT1 DCC DCLRE1B DCTN4 DDB1 DEF6 DICER1 DLC1 DNAJC30 DOCK2 DOCK8 EDNRA EIF4H ELANE ELF4 ELN ENG EP300 EPCAM ERBB3 F13A1 F13B FAN1 FAS FASLG FCGR2A FCHO1 FCN3 FERMT1 FGFR3 FH FKBP6 FLCN FLNB FOXE1 FOXP3 FREM1 FREM2 GATA1 GATA6 GCLC GPIHBP1 GPR35 GREM1 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C HABP2 HCCS HEATR3 HEPACAM HFE HLA-B HLA-DRB1 HMOX1 HPS1 IGHM IKBKG IL10RA IL10RB IL21 IL37 IL6 INAVA INSR IRGM ITGB2 IVNS1ABP JAK1 JAK3 KCNN4 KEAP1 KIF7 KIT KLLN KRAS LIG4 LIMK1 LMNA LMOD1 LONP1 LRBA LTBP4 MAD1L1 MAP3K7 MASP2 MBD4 MCC MDM2 MED12 MEFV METTL27 MID1 MIF MINPP1 MKKS MLH1 MLH3 MLXIPL MNX1 MSH2 MSH3 MSH6 MST1 MUTYH MYH11 MYLK NAA10 NCF1 NCF2 NCF4 NDUFB11 NFKBIA NIPBL NLRC4 NOD2 NRAS NSUN2 NTHL1 OPLAH OTUD5 PALB2 PALLD PDE11A PDGFRA PDGFRL PERCC1 PI4KA PIGN PIGV PIGY PIK3CA PIK3CD PIK3CG PKD1 PLA2G2A PLCG2 PMS1 PMS2 POLA1 POLD1 POLE POLG POLR1B POLR1C POLR1D PRF1 PRKAR1A PRKCD PRMT7 PSTPIP1 PTEN PTPN12 PTPRJ RABL3 RAC2 RAD51C RAD54B RASGRP1 RBCK1 RECQL4 RET RFC2 RFX5 RFXANK RFXAP RHBDF2 RIPK1 RNF43 RNU12 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RTEL1 SALL1 SALL4 SDHA SDHB SDHC SDHD SEC23B SEMA4A SEMA4D SERPINA1 SH3KBP1 SKIC2 SKIC3 SLC11A1 SLC26A9 SLC37A4 SLC6A14 SLC9A3 SMAD4 SMAD7 SOX10 SPINT2 SRC STAT1 STK11 STX11 STX1A STXBP2 SYK TBL2 TCF4 TCOF1 TCTN3 TFAP2A TGFB1 TGFBR2 TLR2 TMEM270 TNFAIP3 TOM1 TP53 TRIP13 TSR2 TTC7A TYMP UBR1 UNC13D USF3 VANGL1 VPS37D WAS WIPF1 XIAP ZAP70 ZMPSTE24 HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY ABCD1 ARSA ARVCF ATP13A2 ATRX BCR CFAP43 COMT CRKL DACT1 DAXX DDHD2 DMPK DSTYK EIF2AK2 EXT2 FA2H FGFR3 FLVCR1 FMR1 FUZ GLA GP1BB GPR35 HIRA HPSE2 HTRA1 ISL1 JMJD1C KY LMNB1 LRIG2 MAPK1 MAPK8IP3 MST1 NOP56 PLP1 PSAP RREB1 RTN2 SALL1 SCN4A SEC24C SEMA4D SLC44A1 SLC9A6 TBCD TBX1 TCF4 TP63 UBAP1 UFD1 VANGL1 VCP ZEB2 ZFYVE26 HP_ABNORMAL_LARYNX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_MORPHOLOGY ADARB1 AFF4 AHDC1 AMER1 APC ARSL ARVCF ASAH1 ASXL3 ATP6V1E1 BRF1 C2CD3 CACNA1C CAPN15 CENPE CHD7 CILK1 COL12A1 COMT CREBBP CTSK DDRGK1 DLK1 DTYMK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EDN1 EFL1 EIF4A3 EP300 EPHB4 EXTL3 FANCB FBXW7 FERMT1 FGF10 FGFR2 FGFR3 FLNA FLNB FOXE1 FRAS1 FREM2 GALC GIPC1 GLI3 GMNN GP1BB GRIP1 H3-3A H3-3B HAAO HDAC4 HIRA HNRNPR HOXD13 HS3ST6 HSPG2 HYLS1 IDH1 IFT80 INTU JMJD1C KANSL1 KAT6A KAT6B KCNMA1 KIF22 KIF7 KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LBR LMNA LRP12 LRP4 LTBP3 LTBP4 MAP3K7 MATR3 MEG3 MEIS2 MGP MID1 MT-CYB MYMK MYMX NEK1 NFIX NIN NOTCH2NLC NRCAM ORC6 PCNT PHIP PKDCC PLG POLR3A POR PPM1D PRMT7 PRRX1 PSAP PTH1R PUF60 RAF1 RALGAPA1 RFX7 RILPL1 ROBO1 RPL10 RREB1 RTL1 SATB2 SCARF2 SEC24C SEMA3E SERPING1 SETBP1 SF3B4 SIAH1 SLC26A2 SMAD2 SMAD4 SNIP1 SOX4 SOX9 SPTBN1 SYT1 TBX1 TBX3 TCTN3 TONSL UBE3B UFC1 UFD1 VPS13B WDR35 WRN XPNPEP2 ZBTB7A ZIC3 ZNF699 HP_ABNORMAL_LARYNX_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_PHYSIOLOGY ANG ANXA11 ASAH1 ATXN2 BRF1 BTD CASR CCNF CFAP410 CHCHD10 CHMP2B DAO DCTN1 EPHA4 ERBB4 FIG4 FUS GABRG2 GLE1 GLT8D1 GRIN2A HNRNPA1 MATR3 NEFH NEK1 OPTN PFN1 PLP1 PON1 PON2 PON3 PPARGC1A PRPH SCN4A SOD1 SQSTM1 SRPX2 TAF1 TAF15 TARDBP TBK1 TREM2 TSPYL1 UBE3B UBQLN2 UNC13A VAPB VCP HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY AARS2 ACP5 ADNP AHI1 ALDH6A1 ALG13 ALG2 ANKRD11 ARSI ASXL3 ATP6AP2 BICD2 CCDC174 CLCN3 CLTC COASY COG1 COG5 COX7B CREBBP CSPP1 CUX1 D2HGDH DCX DHCR7 DHX37 DNM1 DOCK6 DTYMK EIF2B5 EML1 EP300 ERMARD EZH2 FANCI FBXW11 FRA10AC1 GAN GCDH GFM2 GLUL GRIN1 GRN HCCS HNRNPH1 HS6ST2 KAT6B KCNJ6 KCTD1 KDM1A KDM6A KIAA0586 KIAA0753 KIDINS220 KIF26A KLHL15 KMT2D LARGE1 LIPT2 LONP1 MAPKAPK5 MED25 MEF2C MPDZ MTHFS NADK2 NCAPG2 NDE1 NDUFB11 NEK1 NFIX NRCAM ODC1 PDHA1 PEX10 PEX2 PGAP3 PIGA PIGG PLXNA1 PPP1R12A PPP2R5D PSAT1 PTPN23 PUS3 RAB3GAP1 RAC1 RNU4ATAC RNU7-1 SATB1 SEC31A SLC35A2 SMG9 SNRPN SON SPG11 SPRED2 STAG2 TAF8 TAOK1 TMEM147 TNFRSF11A TTC26 TTC5 TUBA8 TUBB2B TUBB3 TYROBP USP18 VPS13A VPS51 VRK1 WARS2 YIPF5 YY1 ZEB2 ZIC1 ZIC2 ZNF148 ZNF462 HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION ABCA2 ABCG5 ABCG8 ALB ALG6 ANGPTL3 APOA2 APOA5 APOB APOC3 APOE B4GALT1 CCDC115 CELA2A CEP19 CYP7A1 DYRK1B EMD EPHX2 FDFT1 FHL1 GHR GPIHBP1 LCAT LDLR LDLRAP1 LIPA LMNA LPL LRP6 MSMO1 MTTP NGLY1 PANK2 PCSK9 PPP1R17 SAR1B SLC25A13 SLC7A7 SMPD1 SYNE1 SYNE2 TMEM199 TMEM43 TTPA HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY BANF1 FHL1 FHOD3 FLNC FOCAD GYS1 KIF20A LMOD2 MYH7 MYL2 MYL3 MYPN NAA10 NPPA NUP155 PLD1 RARB SCN1B SCN5A SGO1 STRA6 TLL1 TNNI3 TNNT2 HP_ABNORMAL_LEFT_HEMIDIAPHRAGM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_HEMIDIAPHRAGM_MORPHOLOGY ALDH1A2 GATA6 NDUFAF5 NR2F2 WT1 HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY ABCA1 ABCC9 ACTC1 ACTN2 ADAM17 ADAMTS19 AIP ALG9 ARL6 ARSK ATP6AP2 B3GAT3 BBS1 BIN1 BUB1 BUB1B BUB3 C1QBP CACNA1D CAV3 CCDC28B CEP57 CHST3 CLN3 COG1 COL1A2 COQ7 COQ9 COX16 DMD DTNA EGFR EPG5 ESPN FGFR1 FHL1 FKRP FLNC FOCAD FZR1 GAA GATA5 GATA6 GLA GLRX5 GNB2 GNPTAB GTPBP3 GYS1 HADHA HADHB HCN4 HDAC4 HSD11B2 IFIH1 JPH2 KCNJ5 LDB3 LOX LRPPRC LZTR1 MEN1 MOGS MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTX2 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOZ2 MYPN NAXD NDUFS2 NEXN NKX2-5 NONO NOTCH1 NPPA PIGL PLN POLG POLG2 POMT1 POMT2 PSEN1 PSEN2 PTPN11 RIT1 RNU7-1 RRM2B RYR1 SCN5A SCO1 SDHA SDHAF1 SDHB SDHD SLC25A24 SLC25A4 SMAD3 SMAD6 SPEG SVIL SYT2 TAB2 TCAP TLL1 TNNI3 TNNT2 TPK1 TRIP13 TRMT10C TTN TTR TWNK WDPCP WDR35 ZIC3 ZNF462 ZNF687 HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY ACTC1 ADAMTS19 ALG9 BUB1 BUB1B BUB3 CAV3 CEP57 FGFR1 FOCAD GATA5 GNB2 HDAC4 IFIH1 MYH6 MYH7 MYLK2 NKX2-5 NOTCH1 PIGL PTPN11 SMAD6 SYT2 TAB2 TRIP13 WDPCP ZIC3 HP_ABNORMAL_LENS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LENS_MORPHOLOGY AARS1 AASS ABCA12 ABCA2 ABCA4 ABCD1 ABHD12 ABHD5 ACADS ACTB ADA2 ADAMTS10 ADAMTS17 ADAMTS18 ADAMTSL4 ADGRV1 ADNP AFF4 AGA AGBL5 AGK AHI1 AHR AIPL1 AIRE AKT1 ALDH18A1 ALDH6A1 ALDOB ALG2 ALG3 ALG8 ALMS1 ALX1 ALX3 AMACR AMER1 AMMECR1 ANAPC1 ANKRD55 ANO1 ANO10 AP1S1 APC APC2 APOA1 ARCN1 ARHGAP31 ARHGEF18 ARL2 ARL2BP ARL3 ARL6 ARPC4 ARSG ARSL ARVCF ASPH ATAD3A ATOH7 ATP11A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1B2 ATP8A2 ATPAF1 ATPAF2 B3GALNT2 B3GALT6 B3GLCT B4GALNT1 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS2 BBS9 BCAP31 BCL7B BCOR BCS1L BDNF BEST1 BFSP1 BFSP2 BLTP1 BMP4 BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BTNL2 BUB1 BUB1B BUB3 BUD23 C12orf57 C4A CA4 CA8 CARS1 CASK CASZ1 CAV1 CBS CC2D2A CCDC28B CCR1 CD247 CDH11 CDH23 CDHR1 CENPF CEP164 CEP290 CEP57 CEP78 CERKL CFAP410 CFAP418 CHD7 CHMP4B CHRDL1 CHSY1 CIB2 CLIP2 CLN3 CLPB CLRN1 CNBP CNGA1 CNGB1 CNGB3 COG4 COL11A1 COL11A2 COL18A1 COL25A1 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL7A1 COL9A1 COL9A2 COL9A3 COMT COPB1 COQ6 COX7B CPAMD8 CPT2 CRB1 CREBBP CRPPA CRX CRYAA CRYAB CRYBA1 CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CRYGS CSPP1 CTC1 CTDP1 CTNNB1 CYP1B1 CYP27A1 CYP7B1 CYSLTR2 DACT1 DAG1 DDB2 DGUOK DHCR7 DHDDS DHX38 DKC1 DLL4 DMPK DNAJC30 DNM1L DNMBP DNMT1 DOCK6 DPAGT1 DSG4 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBP EED EFEMP2 EHMT1 EIF2B2 EIF4H ELN ELP4 ENTPD1 EOGT EP300 EPCAM EPG5 EPHA2 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESPN ETFA ETFB ETFDH EYS FAM111A FAM111B FAM161A FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAS FBLN5 FBN1 FBN2 FBXL4 FBXW11 FDXR FGF3 FGF5 FH FIBP FIG4 FKBP6 FKRP FKTN FLI1 FLNA FLNB FLVCR1 FOXC1 FOXC2 FOXE3 FSCN2 FTL FYCO1 FZD4 GABRD GALK1 GALM GALT GATA1 GBA2 GCNT2 GDF6 GEMIN4 GFER GJA1 GJA3 GJA5 GJA8 GJB3 GJB4 GJB6 GLA GMPPB GNA11 GNAQ GNAS GNPAT GP1BB GSN GSR GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B GUCY2D HARS1 HCCS HDAC8 HEATR3 HGSNAT HIRA HLA-A HLA-B HLA-DRB1 HMX1 HNRNPA1 HNRNPA2B1 HNRNPDL HS2ST1 HSF4 HSPA9 HSPG2 HTRA2 HYCC1 IARS2 IDH1 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT80 IFT88 IKBKG IL10 IL12A IL12A-AS1 IL23R IL2RA IL2RB IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INTS1 INVS IQCB1 ITM2B ITPA JAG1 JAM3 JMJD1C KANSL1 KCNA4 KCNAB2 KCNH1 KCNJ13 KCNMA1 KCNN3 KCTD1 KDSR KIAA1549 KIF11 KIF21A KIZ KLHL7 KLLN KLRC4 KMT2C KRT25 KRT71 KRT74 KRT81 KRT83 KRT86 LAMB1 LAMB2 LARGE1 LAS1L LCA5 LEMD2 LETM1 LIG3 LIG4 LIM2 LIMK1 LIPH LMBRD2 LMNA LMX1B LONP1 LOXL1 LOXL3 LPAR6 LRAT LRP2 LRP4 LRP5 LSS LTBP1 LTBP2 LUZP1 LZTR1 MAB21L2 MAD2L2 MAF MAFA MAK MAN2B1 MAP2K2 MAPKAPK5 MAX MBTPS1 MECP2 MED11 MED25 MED27 MEFV MERTK METTL27 MFRP MINPP1 MIP MIPEP MIR184 MIR204 MITF MKS1 MLXIPL MMP1 MMP23B MOCS1 MOCS2 MORC2 MPLKIP MRPS28 MSMO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTAP MVK MYH9 MYMK MYO7A MYSM1 NAA10 NACC1 NAGA NAXD NCF1 NDP NDUFB11 NEK2 NEK9 NEU1 NF2 NHP2 NHS NIPBL NMNAT1 NOD2 NOP10 NOTCH1 NOTCH2 NPHP1 NPHP3 NPHP4 NPM1 NR2E3 NRCAM NRL NSD1 NSUN2 NUP188 OAT OCLN OCRL OFD1 OPA1 OPA3 OTX2 P3H2 PAH PAK2 PALB2 PANK4 PARN PAX2 PAX6 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6G PDPN PDZD7 PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF6 PHGDH PHOX2A PHYH PIGY PIK3C2A PIK3CA PIK3R1 PITX2 PITX3 PLCG2 PLK4 PLOD3 PMM2 PNPLA6 PNPT1 POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3GL POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRCD PRDM16 PRG4 PRIM1 PRKAG2 PRKCZ PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRR12 PRUNE1 PSAT1 PSMC3 PTCH1 PTCH2 PTEN PTH PTH1R PTPN2 PTPN22 PXDN PYCR1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RALGAPA1 RB1 RBM8A RBP3 RBPJ RD3 RDH11 RDH12 RDH5 RECQL4 REEP6 RERE RET RFC2 RFWD3 RGR RHO RHOA RIC1 RLBP1 RNF113A RNF13 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RRM2B RS1 RSPO2 RTEL1 RTN4IP1 RXYLT1 SAG SALL1 SALL2 SALL4 SBF2 SC5D SCAPER SDCCAG8 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC31A SEMA4A SETD2 SF3B1 SHROOM4 SIL1 SIN3A SIPA1L3 SIX6 SKI SLC16A12 SLC25A13 SLC25A4 SLC2A1 SLC33A1 SLC40A1 SLC4A4 SLC7A14 SLF2 SLX4 SMAD3 SMAD4 SMARCB1 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMPX SNRNP200 SOX2 SPATA7 SPEN SPRED1 SPRTN SPTBN1 SPTLC1 SRD5A3 SREBF1 STAT4 STX16 STX1A SUFU SUMF1 SUOX TAOK1 TAP1 TAP2 TAPBP TARS1 TBC1D20 TBC1D24 TBL2 TBR1 TBX1 TCOF1 TCTN1 TCTN2 TCTN3 TDRD7 TELO2 TERC TERT TFAP2A TGFB2 TGFBI TGFBR1 TGFBR2 TGM3 TINF2 TKFC TKT TLR4 TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMTC3 TONSL TOPORS TRAF3IP1 TRAPPC11 TRIM44 TRIP13 TRPM3 TRPV4 TSPAN12 TSR2 TTC8 TUB TUBA1A TUBB2B TUBB3 TUBB4B TUBG1 TUBGCP6 TULP1 TWNK TXNDC15 TYMS UBA5 UBAC2 UBE2A UBE2T UBE4B UFD1 UNC45B USB1 USF3 USH1C USH1G USH2A USP45 USP9X VAC14 VCAN VCP VHL VIM VLDLR VPS37D VPS4A VSX2 WDR19 WDR35 WDR73 WDR81 WFS1 WHRN WNT3 WRAP53 WRN WT1 XPA XPC XRCC2 XRCC4 XYLT2 YAP1 ZBTB20 ZEB2 ZNF335 ZNF408 ZNF513 ZNF526 HP_ABNORMAL_LEUKOCYTE_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEUKOCYTE_COUNT AARS1 ABCD4 ABL1 ACAT1 ACP5 ADA ADA2 ADAMTS3 ADH5 AGA AGR2 AK2 ALG12 AMN ANAPC1 ANKRD26 AP1S3 AP3B1 AP3D1 ARHGAP31 ARHGEF1 ARPC1B ASXL1 ATM ATP11A ATP6AP1 ATP6AP2 ATRX B2M BACH2 BANK1 BCL10 BCL11B BCOR BCR BLK BLM BLNK BLOC1S6 BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 C4A C4B CA2 CALR CAMK2B CAPN3 CARD10 CARD11 CARD9 CARS1 CASK CASP10 CASP8 CASR CBL CCBE1 CD19 CD247 CD3D CD3E CD3G CD4 CD40 CD40LG CD79A CD79B CD81 CD8A CDC40 CDCA7 CDH23 CDSN CEBPE CFTR CHD7 CIITA CLPB COG4 CORO1A CPA1 CR2 CSF3R CTLA4 CTNNBL1 CTPS1 CTRC CUBN CXCR2 CXCR4 CYBC1 DCLRE1B DCLRE1C DDX41 DEF6 DIAPH1 DKC1 DLL4 DNAJC21 DNASE1 DNMT3B DOCK2 DOCK6 DOCK8 EFL1 EIF2AK3 ELANE ELF4 EOGT EPB42 EPG5 ERCC2 ERCC3 ERCC4 ERCC6L2 ETS1 ETV6 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXL4 FBXW7 FCGR2A FCGR2B FCGR3B FCHO1 FDX2 FERMT3 FIBP FIP1L1 FMO3 FNIP1 FOCAD FOXN1 FOXP3 FUT8 G6PC3 G6PD GATA1 GATA2 GBA1 GFI1 GINS1 GSS GTF2E2 GTF2H5 HAX1 HBB HEATR3 HELLS HLA-DPB1 HLA-DRB1 HMGCL HSCB HTRA2 HYOU1 ICOS IFIH1 IFNG IFNGR1 IGHG1 IGHM IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL10 IL1RN IL21 IL2RA IL2RB IL2RG IL36RN IL37 IL6R IL6ST IL7 IL7R IPO8 IRAK1 IRAK4 IRF2BP2 IRF5 IRF8 ISCU ITCH ITGAM ITGB2 ITK IVD IVNS1ABP JAGN1 JAK1 JAK2 JAK3 JAZF1 KIAA0319L KIT KNSTRN KRAS LACC1 LAMTOR2 LAT LBR LCK LCP2 LEP LEPR LIG1 LIG4 LIPA LMBRD1 LMNB2 LPIN2 LRBA LRRC8A LYST MAD2L2 MAGT1 MALT1 MCM10 MDM4 MECOM MECP2 MEFV MICU1 MMAA MMAB MMACHC MMUT MPL MPLKIP MS4A1 MSN MTHFD1 MTRR MVK MYC MYD88 MYSM1 NABP1 NAE1 NAF1 NBN NCAPG2 NCKAP1L NDUFA6 NFKB1 NFKB2 NFKBIA NHEJ1 NHLRC2 NLRP1 NLRP12 NLRP3 NOTCH1 NPM1 NR3C1 NRAS NSMCE3 NUMA1 OAS1 ORAI1 OSTM1 OTUD5 OTULIN PACS2 PALB2 PCCA PCCB PDCD1 PDGFRA PDGFRB PGM3 PI4KA PIGA PIK3CD PIK3CG PIK3R1 PKHD1 PLCG2 PML PNP POMP PPIL1 PRDX1 PRF1 PRIM1 PRKAR1A PRKCD PRKDC PRSS1 PRSS2 PSMB4 PSMB9 PTEN PTPN22 PTPRC PXK RAB27A RAC2 RAD51 RAD51C RAG1 RAG2 RARA RASGRP1 RBCK1 RBM8A RBPJ RECQL4 REL RELB RFWD3 RFX5 RFXANK RFXAP RHOH RIPK1 RMRP RNASEH2B RNF113A RNU4ATAC RPA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RTEL1 RUNX1 SALL4 SAMD9 SAMD9L SARS2 SASH3 SAT1 SBDS SCARB2 SEC61A1 SF3B1 SGPL1 SH2D1A SKIC2 SKIC3 SLC27A4 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SLF2 SLX4 SMARCAL1 SMARCD2 SOCS1 SP110 SPI1 SPINK1 SPINK5 SPP1 SPRED2 SREBF1 SRP19 SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STK4 STN1 STX11 STXBP2 SYK TAFAZZIN TARS1 TBK1 TBL1XR1 TBX2 TBX21 TBXAS1 TCF3 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TGFB1 TICAM1 TINF2 TLR3 TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF12 TNFSF4 TNIP1 TOM1 TONSL TP53 TPP2 TRAC TRAF3 TREX1 TRNT1 TSR2 TTC7A TTI2 UBE2A UBE2L3 UBE2T UNC119 UNC13D UNC93B1 UROS USB1 USP48 USP8 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 XIAP XRCC2 XRCC4 ZAP70 ZBTB16 ZBTB24 ZNF341 ZNF699 ZNFX1 ZPR1 HP_ABNORMAL_LIBIDO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIBIDO ABCD1 AIP ARMC5 ATRX BRAF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 DUSP6 FGF17 FGF8 FGFR1 FSHB GNAS GNRH1 GNRHR HS6ST1 HTT KISS1 KISS1R MEN1 NHLH2 NR3C1 NSMF PROK2 PROKR2 SLC2A3 SPRY4 TAC3 TACR3 TP53 TRANK1 USP48 USP8 WDR11 HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM ATF6 CACNA1F CNGA3 CNGB3 GNAT2 KIF3B OPN1SW PDE6C PDE6H PEX12 RPGR HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM ACOX1 ADAR AIPL1 ALG3 BEST1 CACNA1F CERKL CLRN1 CYP4V2 GUCY2D IDH3B IDS IMPDH1 LARGE1 LRAT MCOLN1 MFRP MT-ATP6 NR2E3 NUP54 NUP62 PCYT1A PDE6B POMGNT1 PPT1 PROM1 PRPH2 RDH5 RGR RHO RLBP1 RP1 RP9 RPE65 RPGRIP1 SAG TTC8 USP45 ZNF513 HP_ABNORMAL_LIMB_EPIPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIMB_EPIPHYSIS_MORPHOLOGY ACAN ADAMTS2 ADAMTSL2 AIFM1 ARSL ATP7A ATR B3GALT6 BGN BMPR1B BPNT2 BRF1 CANT1 CCN6 CDC6 CHST3 COG1 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLX1 CREBBP CSPP1 CTBP1 DLK1 DNAJC21 DUOX2 DUOXA2 DVL1 DVL3 DYM EFL1 EIF2AK3 EP300 ERCC6 ERCC8 EVC EVC2 EXT1 EXTL3 FGFR3 FGFRL1 FLNA FLNB FN1 FZD2 GDF5 GLB1 GNPAT GNPTG GPX4 HESX1 HS2ST1 HSPG2 IFIH1 IFT140 IFT172 IFT52 IHH INPP5K IYD KCNH1 KIAA0586 KIF15 KIF22 LETM1 LHX3 LHX4 MATN3 MEG3 MGP MIA3 MRPS28 NEK1 NEK9 NKX3-2 NPR2 NPR3 NSD2 PCNT PEX5 PIK3C2A PLOD3 POR POU1F1 PRKAR1A PROP1 RAB23 RAB3GAP2 RAD21 RET RINT1 RMRP RNU4ATAC RPL13 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL1 SBDS SIL1 SKIC3 SLC26A2 SLC2A10 SLC39A13 SLC5A5 SMARCAL1 SRCAP SRP54 TBC1D2B TBX4 TG TINF2 TONSL TPO TRAPPC2 TREX1 TRIP11 TRPS1 TRPV4 TSHB TSHR UFSP2 UNC45A WNT5A HP_ABNORMAL_LINE_OF_SCHWALBE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LINE_OF_SCHWALBE_MORPHOLOGY ARVCF BAZ1B BCL7B BUD23 CLIP2 COMT COX7B DGCR2 DGCR6 DGCR8 DNAJC30 EIF4H ELN ESS2 FKBP6 FOXC1 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HCCS HIRA HMX1 HS2ST1 JAG1 JMJD1C LIMK1 METTL27 MLXIPL NCF1 NDUFB11 NOTCH2 PAX6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3R1 PITX2 RFC2 RREB1 SEC24C SLC38A8 STX1A TBL2 TBX1 TMEM270 UFD1 VPS37D YAP1 HP_ABNORMAL_LIP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIP_MORPHOLOGY AARS1 AASS ABCA12 ABCC8 ABCC9 ABCD1 ABHD5 ABL1 ACER3 ACSL4 ACTA1 ACTB ACTG1 ACVRL1 ADAM17 ADAM22 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADARB1 ADAT3 ADGRG6 ADNP ADSL AFF2 AFF3 AFF4 AGA AGL AGO1 AGO2 AGR2 AIMP2 AIP ALDH6A1 ALG1 ALG11 ALG12 ALG13 ALG8 ALG9 ALOX12B ALOXE3 ALX3 ALX4 AMER1 AMMECR1 AMN AMPD2 ANGPT1 ANKLE2 ANKRD11 ANKRD17 ANO1 ANTXR1 AP1G1 AP1S2 AP1S3 AP2M1 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARNT2 ARSK ARVCF ARX ASH1L ASPM ASPRV1 ASXL1 ASXL2 ASXL3 ATG7 ATIC ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATRX AUTS2 AVP AXIN2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B9D1 BANF1 BANK1 BAP1 BAZ1B BCAS3 BCL11A BCL11B BCL7B BCOR BCR BDNF BLK BLM BMP1 BMP2 BPTF BRAF BRAT1 BRCA1 BRCC3 BRD4 BRF1 BRPF1 BUB1 BUB1B BUD23 C12orf57 C4A C4B CA2 CACNA1A CACNA1C CACNA1I CACNA2D1 CAMK2G CAMSAP1 CAMTA1 CANT1 CASK CAST CASZ1 CBL CC2D2A CCBE1 CCDC22 CCDC47 CCDC8 CCNK CCNQ CD96 CDC42 CDC42BPB CDC45 CDC6 CDH1 CDH11 CDH2 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDKL5 CDON CDT1 CENPE CENPJ CEP120 CEP135 CEP152 CEP63 CERS3 CERT1 CHAMP1 CHD2 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CIT CITED2 CKAP2L CLCF1 CLCN3 CLCN6 CLEC7A CLIC2 CLIP2 CLP1 CLTC CNOT1 CNOT2 CNOT3 CNTNAP1 COG1 COG6 COG7 COL11A1 COL11A2 COL2A1 COL3A1 COLEC10 COLEC11 COMT COPB2 COX7B CPLANE1 CPLX1 CR2 CREBBP CRKL CRLF1 CRTAP CSF1R CSGALNACT1 CSNK2A1 CSNK2B CTBP1 CTCF CTLA4 CTNNB1 CTNND1 CUBN CUL4B CUL7 CUX1 CWC27 CYB5A CYB5R3 CYFIP2 CYP26C1 CYP4F22 DCHS1 DCPS DDB1 DDR2 DDRGK1 DDX3X DDX59 DDX6 DEAF1 DENND5A DHCR7 DHODH DHPS DHX30 DHX37 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLX4 DMPK DNAJC30 DNASE1 DNMT3A DOCK7 DPF2 DPM1 DPM2 DPYD DPYSL5 DSC3 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP ECM1 EDA EDA2R EDAR EDARADD EDEM3 EDNRA EED EEF1A2 EFNB1 EFTUD2 EGFR EHMT1 EIF2S3 EIF4H EIF5A ELN EMC1 ENG EP300 EPB41L1 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERF ERLIN2 ERMARD ESCO2 ETS1 EVC EVC2 EXOC2 EXOC7 EXOSC1 EXOSC2 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EZH2 FAM20C FAR1 FAT4 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FCGR2B FCGR3B FERMT1 FGD1 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FHL1 FIBP FIG4 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FOXA2 FOXC1 FOXC2 FOXG1 FOXH1 FOXL2 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FTO FTSJ1 FUCA1 FZD2 GABRD GAD1 GALNT2 GAS1 GATA4 GATA5 GATA6 GATAD2B GBA1 GDF1 GDF11 GFRA1 GJA1 GJA5 GJA8 GJB2 GJB6 GLA GLB1 GLI1 GLI2 GLI3 GLIS3 GLUL GMNN GMPPA GNA14 GNAI1 GNB1 GNB2 GNE GNPTAB GNS GOLGA2 GP1BB GPC3 GPC4 GPC6 GPR101 GRB10 GREB1L GRHL3 GRIA1 GRIA3 GRIA4 GRIP1 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HDAC4 HDAC6 HDAC8 HECTD4 HECW2 HERC2 HES7 HESX1 HGSNAT HIC1 HIRA HIVEP2 HK1 HLA-DRB1 HMGA2 HNRNPH2 HNRNPK HNRNPU HOXB1 HOXD13 HPDL HRAS HS2ST1 HS3ST6 HS6ST2 HSD17B4 HSPG2 HUWE1 HYLS1 IARS2 IDH1 IDS IDUA IER3IP1 IFIH1 IFT122 IFT140 IFT43 IFT52 IFT57 IFT80 IFT81 IGF1R IGHG1 IL10 IL17F IL17RA IL17RC IL1RAPL1 IL36RN IL6ST INPPL1 INSR INTS1 INTU IQSEC2 IRAK1 IREB2 IRF5 IRF6 IRX5 ITCH ITGA8 ITGAM JAG1 JARID2 JAZF1 JMJD1C JUP KANSL1 KARS1 KAT5 KAT6A KAT6B KAT8 KATNB1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KDF1 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDR KIAA0319L KIAA0753 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF26A KIF7 KIFBP KIT KLHL41 KMT2A KMT2C KMT2D KNG1 KNL1 KNSTRN KRAS KREMEN1 KRT16 KRT17 KRT6A KRT6B LARGE1 LARP7 LAS1L LBR LEMD2 LEMD3 LETM1 LFNG LHX4 LIFR LIG4 LIMK1 LIPN LMBRD1 LMNA LMNB1 LMX1B LRP4 LRP6 LRRC32 LTBP1 LTBP3 LTBP4 LUZP1 LZTR1 MAB21L1 MAB21L2 MADD MAF MAFB MAGEL2 MALT1 MAN1B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS2 MASP1 MBD5 MBTPS2 MCM5 MCM7 MCOLN1 MCPH1 MCTP2 MDH1 MECP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEOX1 MESD MESP2 METTL23 METTL27 METTL5 MFSD2A MGAT2 MGP MICU1 MID1 MID2 MINPP1 MKRN3 MKS1 MLXIPL MMACHC MMP23B MOCS1 MOCS2 MPC1 MPDU1 MRAS MRPS28 MSL3 MSX1 MSX2 MTOR MTX2 MUSK MYCN MYH3 MYH8 MYL11 MYL2 MYMK MYMX MYO18B MYOD1 MYOF NAA10 NAA20 NAGA NALCN NANS NARS2 NBAS NBN NCAPD3 NCAPG2 NCF1 NDN NDP NEB NECTIN1 NEK1 NEK9 NELFA NEU1 NEXMIF NF1 NFIA NFIB NFIX NIPAL4 NIPBL NKAP NKX2-5 NKX2-6 NLRP1 NODAL NOG NONO NOTCH2 NOTCH3 NOVA2 NPAP1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NUAK2 NUP107 NUP37 NXN OBSL1 OCA2 OCLN OCRL ODC1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OSTM1 OTUD6B OTX2 P4HTM PACS1 PACS2 PAFAH1B1 PAH PAK3 PAM16 PARS2 PAX3 PAX6 PAX9 PBX1 PCDHGC4 PCGF2 PCLO PDCD1 PDCD6IP PDE4D PDGFRB PDHA1 PDPN PERP PEX26 PGAP2 PGAP3 PGM2L1 PHC1 PHF21A PHF8 PHGDH PHIP PIDD1 PIEZO2 PIGB PIGG PIGK PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3CD PITX2 PKDCC PKP1 PLAA PLCH1 PLG PLPBP PLXND1 PMM2 POC1A POGZ POLR1B POLR1C POLR1D POLR3A POLR3GL POMGNT1 POMT1 POMT2 POR PORCN POU1F1 POU4F1 PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM16 PRDX1 PREPL PRIM1 PRKACA PRKACB PRKAR1B PRKCZ PRKDC PRMT7 PROKR2 PROP1 PRORP PSMB8 PSMC3 PSMD12 PTCH1 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PTPRF PTRH2 PUF60 PURA PUS1 PUS7 PWAR1 PWRN1 PXK PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAB5IF RAC3 RAD21 RAF1 RAI1 RALA RAPSN RASA2 RBL2 RBMX RECQL RECQL4 RERE RET REV3L RFC2 RFX7 RHOBTB2 RIC1 RIN2 RIPK4 RIPPLY2 RIT1 RNF135 RNF2 RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1L RPL10 RPL5 RPS19 RPS23 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUNX2 RYR1 SALL4 SARS1 SASS6 SATB1 SATB2 SC5D SCARF2 SCN1A SCN4A SCUBE3 SCYL2 SDR9C7 SEC23A SEC24C SEC31A SEMA3E SET SETBP1 SETD1A SETD1B SETD5 SF3B2 SF3B4 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIM1 SIN3A SIX1 SIX3 SKI SKIC3 SLC1A3 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC35A1 SLC35A2 SLC35C1 SLC39A4 SLC45A1 SLC46A1 SLC6A1 SLC6A17 SLC9A7 SLF2 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMO SMOC1 SMPD4 SMS SNAI2 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOX11 SOX18 SOX4 SOX9 SPATA5L1 SPECC1L SPEN SPOP SPP1 SPRED2 SPTBN1 SRCAP SRD5A3 SREBF1 SSR4 STAG2 STAT4 STEEP1 STIL STIM1 STK11 STRADA STT3A STX1A STXBP1 SUFU SULT2B1 SUMF1 SUMO1 SUPT16H SUZ12 SYNE1 SYNGAP1 SYT1 TAB2 TAF1 TAF13 TAF6 TAF8 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TCF20 TCF3 TCF4 TCOF1 TCTN2 TCTN3 TDGF1 TENM3 TET3 TFAP2A TFAP2B TFE3 TGDS TGFA TGFB3 TGIF1 TGM1 THOC6 THSD1 THUMPD1 TLK2 TLR7 TMCO1 TMEM147 TMEM237 TMEM270 TMEM53 TMEM70 TMEM94 TMLHE TNFAIP3 TNFSF4 TNIP1 TNNI2 TNPO2 TNRC6B TOE1 TOR1A TP63 TPM3 TPR TRAF3IP2 TRAF6 TRAPPC10 TRAPPC14 TRAPPC4 TRAPPC9 TREX1 TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRPM3 TRPS1 TRRAP TSPAN7 TSPEAR TTC26 TTC5 TTI2 TUBB TUBGCP2 TWIST1 TWIST2 TXNL4A UBE2A UBE2L3 UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UGDH UGP2 UNC80 UPF3B USB1 USP9X VAC14 VAX1 VPS13B VPS33A VPS35L VPS37D VPS51 WAC WARS1 WARS2 WASHC4 WDR19 WDR26 WDR35 WDR37 WDR4 WDR62 WLS WNT10A WNT10B WNT3 WNT4 WNT5A WNT9B WT1 WWOX XPNPEP2 XRCC4 XYLT1 XYLT2 YAP1 YARS2 YWHAE YY1 ZBTB18 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF292 ZNF407 ZNF462 ZNF526 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_LIVER_METABOLITE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_METABOLITE_CONCENTRATION ABCG5 ABCG8 ABHD5 ACAD9 ACADM ACADS ACADVL ACOX1 ACSL5 ADK AGPAT2 AKR1D1 AKT2 ALDOB ALMS1 APOB APOE ARMC5 ATP6AP1 ATP6AP2 ATP7B BCS1L BLM BMP6 BSCL2 CARS2 CASZ1 CAV1 CAVIN1 CBS CCDC115 CEP19 CIDEC CLPB COA8 COX15 CP CPT1A CPT2 CYP19A1 CYP7A1 DDOST DEF6 DGUOK DHCR7 DNAJC19 DOCK2 DPM1 EARS2 ETFA ETFB ETFDH FARS2 FARSA FARSB FBP1 FOCAD FOS FTH1 FTL GABRD GLRX5 GNAS GNB2 GPD1 HADH HADHA HADHB HBB HEPACAM HMGCL HNF1B HNF4A HNRNPA1 HNRNPA2B1 HSD17B4 HSPG2 IARS1 IFIH1 IFT27 KCNAB2 KMT2B LARS1 LDLR LDLRAP1 LIG3 LIPA LIPE LMNA LMNB2 LRPPRC LUZP1 LYRM4 MARS1 MCCC1 MICOS13 MMP23B MPV17 MRPL3 MRPL44 MRPS7 MT-TN MT-TS1 MTTP MTX2 NAA10 NDUFAF1 NFS1 NGLY1 NHLRC2 NSMCE2 PCK1 PCK2 PCSK9 PDPN PGM1 PHKA2 PHKB PHKG2 PIGA PLIN1 PMM2 PNPLA2 POLD1 POLG POLG2 POLR3A PPARG PRDM16 PRKCZ PTEN PTRH2 PYGL RERE RINT1 RMND1 RNU7-1 RRM2B SAR1B SCO1 SDHA SKI SLC11A2 SLC22A5 SLC25A13 SLC25A20 SLC2A2 SLC30A10 SLC37A4 SLC40A1 SLC51B SLCO1B1 SLCO1B3 SPEN SPTBN1 STEAP3 SUCLG1 SURF1 TARS2 TBX1 TFAM TKFC TMEM199 TRAPPC11 TRMU TYMP UBE4B UNC45A VCP VPS33A VPS4A XRCC4 YARS1 ZPR1 HP_ABNORMAL_LIVER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_MORPHOLOGY ABCA1 ABCA12 ABCB11 ABCB4 ABCC2 ABCC6 ABCC8 ABCD3 ABCG5 ABCG8 ABHD5 ACAD9 ACADM ACADS ACADVL ACAT1 ACOX1 ACP5 ACSL5 ACTG2 ACVR2B ACVRL1 ADA ADA2 ADAMTSL2 ADAR ADK AGA AGGF1 AGL AGPAT2 AGR2 AHCY AIRE AKR1D1 AKT2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG5 ALG8 ALG9 ALMS1 AMACR ANK1 ANKRD55 ANKS6 ANTXR1 AP1B1 AP1S1 AP3B1 AP3D1 APC APOA1 APOB APOC2 APOE ARG1 ARHGAP31 ARL13B ARL6 ARMC5 ARSB ASAH1 ASL ASS1 ASXL1 ATAD3A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6AP2 ATP6V1B2 ATP7A ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX AUH AXIN1 B2M B4GALT1 B9D1 B9D2 BAAT BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BICC1 BLM BLNK BMP2 BMP6 BMPER BOLA3 BRCA1 BRCA2 BSCL2 BTD BTK BTNL2 C1QBP C1S C2orf69 C4B CA2 CALR CARS2 CASP10 CASP8 CASR CASZ1 CAV1 CAVIN1 CBL CBS CC2D2A CCDC115 CCDC28B CCDC47 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD55 CD70 CD79A CD79B CD81 CD96 CDAN1 CDIN1 CDKN1C CDKN2A CEACAM3 CEACAM6 CEP164 CEP19 CEP290 CFAP418 CFTR CHD7 CIDEC CIITA CLCA4 CLCN7 CLDN1 CLEC7A CLPB CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COG8 CORIN COX14 COX15 COX4I2 COX5A CP CPOX CPT1A CPT2 CR2 CSPP1 CTC1 CTLA4 CTNNB1 CTNS CTSA CTSC CTSK CYBA CYBB CYBC1 CYP19A1 CYP7A1 CYP7B1 DAXX DCDC2 DCLRE1C DCTN4 DDOST DDRGK1 DEF6 DGUOK DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DLL4 DNAJB11 DNAJC19 DNAJC21 DNASE1L3 DNASE2 DOCK2 DOCK6 DPAGT1 DPM1 DPM2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EARS2 EDNRA EFL1 EIF2AK3 ELN ENG ENPP1 EOGT EPB42 ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ETFA ETFB ETFDH EWSR1 EXTL3 F5 FADD FAH FAM111B FARS2 FARSA FARSB FAS FASLG FBN1 FBP1 FCGR2A FDX2 FECH FERMT3 FGA FGFR2 FLNC FLT1 FOCAD FOS FOXP3 FOXRED1 FTH1 FTL FUCA1 G6PC1 G6PC3 GAA GABRD GALE GALK1 GALM GALNS GALT GANAB GATA2 GBA1 GBE1 GCDH GCLC GDF2 GFM1 GIMAP5 GLB1 GLIS3 GLRX5 GNAS GNB2 GNE GNMT GNPTAB GNS GPC3 GPC4 GPD1 GPIHBP1 GPR35 GSTM3 GUCY2D GUSB HADH HADHA HADHB HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEPACAM HEXB HFE HGSNAT HJV HLA-DRB1 HMGCL HMGCS2 HMOX1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPA2B1 HPGD HSD17B4 HSD3B7 HSPG2 HYMAI HYOU1 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 IGF2R IGHG2 IGHM IGKC IGLL1 IKBKG IL12A IL12RB1 IL17F IL17RA IL17RC IL18BP IL1RN IL21R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 INSR INVS IQCB1 IRAK4 IRF4 IRF5 IRF8 ITCH ITK JAG1 JAK1 JAK2 JAK3 JAM2 JAM3 KCNAB2 KCNH1 KCNJ11 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KIF12 KIF20A KIF3B KIT KLF1 KMT2B KPTN KRAS KRIT1 KRT18 LACC1 LAMA5 LARS1 LBR LCAT LDLR LDLRAP1 LIG3 LIG4 LIPA LIPE LMBRD1 LMNA LMNB2 LPIN2 LPL LRP5 LRPPRC LRRC8A LSM11 LTBP3 LUZP1 LYRM4 LYST LYZ LZTFL1 LZTR1 MADD MAGT1 MAN2B1 MAPK8IP3 MARS1 MCCC1 MCM4 MECOM MED12 MEFV MEG3 MET MFN2 MICOS13 MICU1 MIF MKKS MKS1 MLXIPL MMAA MMAB MMEL1 MMP23B MMUT MOGS MPC1 MPI MPL MPV17 MRAS MRPL3 MRPL44 MRPS28 MRPS7 MST1 MT-ATP6 MT-ATP8 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTTP MTX2 MUC5B MVK MYBPC3 MYD88 MYL2 MYO5B MYORG MYPN MYRF NAA10 NAE1 NAF1 NAGA NAGLU NAGS NCF1 NCF2 NCF4 NCKAP1L NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK1 NEK8 NEU1 NEUROG3 NFKBIA NFS1 NGLY1 NHLRC2 NHP2 NLRP1 NLRP3 NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPM1 NR1H4 NRAS NSD2 NSMCE2 NUBPL OCLN OFD1 OSTM1 OTUD5 PALB2 PALLD PARN PC PCCA PCCB PCK1 PCK2 PCSK9 PDGFB PDGFRA PDGFRB PDGFRL PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHKA2 PHKB PHKG2 PI4KA PIEZO1 PIGA PIGL PIGM PIGS PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKD1 PKD2 PKHD1 PKLR PLAGL1 PLEKHM1 PLIN1 PMM2 PNPLA2 PNPLA6 POLD1 POLG POLG2 POLR3A POU2AF1 PPARG PPP1R21 PRDM16 PRF1 PRIM1 PRKCD PRKCSH PRKCZ PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN11 PTPN2 PTPN22 PTPRC PTRH2 PUS7 PYGL RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RASA2 RASGRP1 RBCK1 RBM8A RBPJ RECQL4 REL RERE RFT1 RFX5 RFXANK RFXAP RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RORC RPGRIP1 RPGRIP1L RRAS RRAS2 RRM2B RTEL1 RTL1 RUNX1 SAA1 SAMHD1 SAR1B SASH3 SBDS SC5D SCAPER SCARB2 SCLT1 SCN4A SCO1 SCO2 SCYL1 SDCCAG8 SDHA SDHD SEC63 SEMA4D SEMA7A SERPINA1 SERPINC1 SF3B1 SFTPA2 SFTPC SGSH SH2D1A SHPK SKI SKIC2 SKIC3 SLC11A1 SLC11A2 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC26A9 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC39A7 SLC40A1 SLC4A1 SLC51A SLC51B SLC6A14 SLC7A7 SLC9A3 SLCO1B1 SLCO1B3 SLCO2A1 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SP110 SPEN SPI1 SPIB SPRED2 SPTA1 SPTB SPTBN1 SRP54 SRSF2 STAT1 STAT3 STAT4 STEAP3 STN1 STOX1 STX11 STX1A STXBP2 SUCLG1 SUMF1 SURF1 SYK TALDO1 TARS2 TBX1 TBX19 TCF3 TCF4 TCIRG1 TCN2 TCTN1 TCTN2 TCTN3 TERC TERT TET2 TFAM TFE3 TFR2 TGFB1 TIMMDC1 TINF2 TJP2 TKFC TKT TLR8 TMEM107 TMEM126B TMEM165 TMEM199 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF15 TNNI3 TNNT2 TNPO3 TOGARAM1 TOM1 TP53 TPP2 TRAC TRAF3IP1 TRAF3IP2 TRAPPC11 TREX1 TRIM32 TRIM37 TRMT5 TRMU TRPV6 TSC1 TSC2 TSFM TTC21B TTC26 TTC7A TTC8 TUFM TULP3 TXNDC15 TYMP TYMS UBE4B UBR1 UCP2 UNC13D UNC45A UQCRB UROD UROS USB1 USP18 USP53 VCP VIPAS39 VPS11 VPS13A VPS33A VPS33B VPS45 VPS4A WDPCP WDR19 WDR35 WRAP53 WT1 XIAP XK XPR1 XRCC4 XYLT1 YARS1 YARS2 ZAP70 ZFYVE19 ZIC3 ZNF699 ZNFX1 ZPR1 HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY BMPER BTNL2 FOCAD HLA-DRB1 JAK1 NPHP3 PMM2 PTRH2 SLC25A13 VPS33B HP_ABNORMAL_LIVER_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PHYSIOLOGY ABCB11 ABCB4 AKR1D1 ALMS1 AMACR AP1B1 AP1S1 ASAH1 ATP8B1 CYP7B1 FH FOCAD HSD3B7 IARS1 PEX14 PGM1 PKHD1 SC5D SLC25A13 SLC2A2 SLC51A TJP2 TMPRSS6 UBR1 VPS50 ZFYVE19 HP_ABNORMAL_LOCALIZATION_OF_KIDNEY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY ADA2 ADAMTS3 AFF3 AFF4 AKT3 APC ARID1A ARID1B ARID2 BAZ1B BCL7B BICRA BMPER BRAF BRCA1 BRCA2 BRIP1 BUD23 CAPN15 CC2D2A CCBE1 CCND2 CCNQ CD96 CDC42BPB CFAP418 CHD7 CHN1 CHST14 CHUK CLIP2 COLEC10 COLEC11 CTU2 CWC27 DACT1 DDB1 DDX59 DDX6 DEAF1 DHCR7 DKC1 DNA2 DNAJC30 DPF2 DSE DSTYK DYNC2LI1 DYRK1A EBP EIF4H ELN ERCC4 ESCO2 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FGFR1 FGFR2 FKBP6 FLII FUZ GATA1 GLI3 GNB2 GRB10 GREB1L GTF2I GTF2IRD1 GTF2IRD2 HEATR3 HMGA2 HNF1B HNRNPH1 HNRNPU HOXD13 HRAS IQSEC2 JAM3 KAT5 KDM6A KMT2D KNSTRN KRAS LEMD3 LIMK1 LRP4 MAD2L2 MAFB MAP3K7 MCM5 MCTP2 METTL27 MLXIPL MNX1 MRPS34 MYCN NCF1 NIPBL NRAS NRIP1 PALB2 PAX2 PBX1 PIK3CD PIK3R2 POR PORCN PTPN11 PUF60 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RAF1 RAI1 RARB RBBP8 RBM10 RBM8A RECQL4 RFC2 RFWD3 RIPK4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTTN SALL1 SALL4 SC5D SEMA3E SF3B2 SLX4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMOC1 SMS SNRPB SON SOX11 SOX4 SPECC1L SPINK5 SRY SSR4 STAG1 STRA6 STX1A TBC1D20 TBL2 TBX22 TCTN3 THOC6 TMEM270 TRIP13 TSR2 UBA2 UBE2A UBE2T USP9X VANGL1 VPS37D WAC WNT4 WNT7B WT1 XRCC2 XRCC4 ZEB2 ZIC3 ZMYM2 HP_ABNORMAL_LONG_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LONG_BONE_MORPHOLOGY ABCC9 ACAN ACP5 ACSL4 ACTA1 ACVR1 ADA ADAMTS10 ADAMTS2 ADAMTSL2 ADNP AFF3 AFF4 AGA AGPS AIFM1 AIP ALG12 ALG3 ALG9 ALPL ALX4 AMER1 AMMECR1 ANAPC1 ANKH ANO5 ANTXR1 ANTXR2 APC ARCN1 ARSB ARSK ARSL ARX ASXL2 ATP6V0A2 ATP6V1B2 ATP7A ATR ATRIP ATRX B2M B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BAZ1B BCL7B BCOR BCR BGN BHLHA9 BICRA BMP1 BMP2 BMPR1A BMPR1B BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUD23 CA2 CAMK2A CANT1 CASK CASR CBFB CBL CBS CC2D2A CCDC134 CCDC47 CCDC8 CCN6 CCNQ CD96 CDC42BPB CDC45 CDC6 CDKL5 CDKN1C CDT1 CENPE CENPJ CENPT CEP120 CEP152 CEP164 CEP290 CFAP410 CFL2 CHD7 CHEK2 CHN1 CHST3 CHSY1 CILK1 CKAP2L CLCN5 CLCN7 CLIP2 CLTCL1 COG1 COG4 COG5 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP CPLANE1 CPLX1 CREB3L1 CREBBP CRKL CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CTC1 CTCF CTNS CUL7 CWC27 CYP19A1 CYP27B1 CYP2R1 CYP3A4 DACT1 DCHS1 DCLRE1C DDR2 DDRGK1 DHCR7 DHODH DHX30 DKC1 DLK1 DMP1 DMXL2 DNA2 DNAJC21 DNAJC30 DNM1L DNMT3A DONSON DPYD DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EED EFL1 EFNB1 EHHADH EIF2AK3 EIF4A3 EIF4H ELN ENPP1 EP300 ERCC1 ERCC4 ERCC6 ERCC8 ESCO2 ESR1 EVC EVC2 EXOC6B EXOSC2 EXT1 EXT2 EXTL3 EZH2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FBXL3 FDFT1 FERMT1 FGF10 FGF16 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP10 FKBP6 FLI1 FLNA FLNB FN1 FZD2 G6PC3 GALNS GAN GATA4 GATAD2B GDF5 GEMIN4 GGCX GHR GJA1 GJA5 GJA8 GLB1 GLE1 GLI1 GLI3 GMNN GNAO1 GNAS GNAS-AS1 GNPAT GNPTAB GNPTG GNS GORAB GPC3 GPC4 GPC6 GPR101 GPX4 GRIN1 GRM7 GSC GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H3-3B HARS1 HBB HDAC4 HDAC6 HDAC8 HEATR3 HEPHL1 HERC2 HESX1 HHAT HINT1 HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPR HOXA11 HOXA13 HOXD13 HPGD HS2ST1 HS6ST1 HSPA9 HSPG2 HYLS1 IARS2 IDH1 IDH2 IDS IDUA IFIH1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IHH IL2RG IL6ST IL7R INPP5K INPPL1 INTU INVS IPO8 IQCB1 IQCE ITCH IYD JAG1 KANSL1 KAT6A KAT6B KCNA1 KCNE5 KCNH1 KCNJ2 KCNJ8 KCNMA1 KCNN3 KCTD1 KDELR2 KIAA0586 KIAA0753 KIF15 KIF1A KIF22 KIF7 KLHL41 KNSTRN KRAS LAMA5 LARP7 LBR LEMD3 LETM1 LHX3 LHX4 LIFR LIG4 LIMK1 LMBR1 LMNA LMOD3 LONP1 LPIN2 LRP4 LRP5 LRRK1 LTBP1 LTBP3 LYSET LZTFL1 LZTR1 MACROH2A1 MAD2L2 MAF MAFB MAGEL2 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MASP1 MATN3 MBTPS2 MCTP2 MECOM MED12 MED25 MEG3 MEGF8 MEIS2 MET METTL27 MGAT2 MGP MIA3 MIR140 MKRN3 MKS1 MLXIPL MMP13 MMP2 MMP9 MPZ MRAS MRPS28 MSX2 MTAP MTHFS MTX2 MUSK MYF5 MYSM1 NADSYN1 NANS NCF1 NDN NDUFAF6 NEB NEK1 NEK8 NEK9 NEPRO NEU1 NEUROD2 NF1 NFIX NHP2 NHS NIPBL NKX3-2 NMNAT1 NOG NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NPR2 NPR3 NRAS NSD1 NSD2 NSDHL NSMCE2 NSUN2 NUP85 NXN OBSL1 OCRL OFD1 ORC1 ORC4 ORC6 OSTM1 OTUD6B P3H1 P4HB P4HTM PACS1 PALB2 PAM16 PAPSS2 PARN PCDHGC4 PCNT PCYT1A PDE3A PDE4D PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHEX PHYH PIEZO2 PIGL PIGP PIGQ PIGS PIGT PIGU PIK3C2A PIK3CD PIK3R1 PISD PITX1 PLCB3 PLEKHM1 PLK4 PLOD2 PLOD3 PLXND1 PMP22 PNKP POC1A POGZ POLE POLR1A POLR3A POLRMT POP1 POR PORCN POU1F1 PPP3CA PRDM5 PRKACA PRKACB PRKAR1A PRKD1 PRKG2 PRMT7 PROP1 PSMD12 PTCH1 PTDSS1 PTEN PTH1R PTHLH PTPN11 PUF60 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB23 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RASA1 RASA2 RB1 RBBP8 RBM10 RBM8A RBPJ RECQL4 RET RETREG1 REV3L RFC2 RFWD3 RINT1 RIPK4 RIT1 RLIM RMRP RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL13 RPL26 RPS19 RPS6KA3 RRAS RRAS2 RSPO2 RSPRY1 RTEL1 RTL1 RUNX2 SALL1 SALL4 SATB2 SBDS SCARF2 SCN1B SCN2A SCN4A SCN9A SCUBE3 SDCCAG8 SEC24D SERPINH1 SETBP1 SETD5 SF3B2 SF3B4 SFRP4 SGMS2 SH3PXD2B SHH SHOX SIAH1 SIK1 SIK3 SIL1 SKI SKIC3 SLC10A7 SLC17A5 SLC25A22 SLC26A2 SLC29A3 SLC2A10 SLC2A2 SLC31A1 SLC32A1 SLC34A1 SLC34A3 SLC35A2 SLC35B2 SLC35D1 SLC39A13 SLC5A5 SLCO2A1 SLX4 SMAD4 SMAD6 SMARCA2 SMARCAL1 SMC1A SMC3 SMO SMOC1 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SON SOS1 SOS2 SOST SOX9 SP7 SPARC SPART SPRED1 SPRED2 SPTBN1 SQSTM1 SRCAP SRP54 SRY STX16 STX1A SUCLG1 SUMF1 SUZ12 SVBP TAPT1 TBC1D2B TBC1D7 TBCD TBCE TBL2 TBX15 TBX22 TBX3 TBX4 TBX5 TBXAS1 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TENT5A TERC TERT TFE3 TG TGDS TGFB1 THRB TINF2 TMEM107 TMEM165 TMEM216 TMEM231 TMEM237 TMEM270 TMEM38B TMEM53 TMEM67 TNFRSF11A TNFRSF11B TNFSF11 TONSL TP53 TPM2 TPO TRAF3IP1 TRAIP TRAPPC2 TREM2 TREX1 TRIM37 TRIM8 TRIP11 TRPM3 TRPS1 TRPV4 TRPV6 TSHB TSHR TTC21B TTC26 TUBB3 TWIST1 TWIST2 TXNDC15 TYMS TYROBP UBE2T UFSP2 UGP2 UNC45A USB1 USP9X VAC14 VCP VDR VPS13B VPS33A VPS35L VPS37D WDR19 WDR26 WDR35 WDR62 WLS WNK1 WNT5A WNT7A WRAP53 XRCC2 XYLT1 ZBTB20 ZEB2 ZIC3 ZMIZ1 ZMPSTE24 ZNF141 ZNF407 ZNF469 ZNF668 ZNF699 ZPR1 ZSWIM6 HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY AARS1 ABCA12 ABCC9 ACAN ACTB ACVR1 ADA ADAMTS10 ADAMTS2 ADAMTSL1 ADAMTSL2 ADAT3 ADGRV1 ADNP AEBP1 AFF3 AFF4 AGPS AHI1 AIFM1 AKT1 ALG12 ALMS1 ALOX12B ALOXE3 ALPL AMER1 AMMECR1 ANAPC1 ANKH ANKRD55 APC ARCN1 ARHGAP31 ARID1B ARL13B ARL3 ARL6 ARL6IP6 ARMC9 ARSL ARVCF ARX ASAH1 ASXL1 ATL3 ATP6AP2 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATR ATRX B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BBS1 BBS12 BBS2 BBS9 BCR BGN BHLHA9 BICD2 BMP1 BMP2 BMP4 BMPR1A BMPR1B BPNT2 BRCA1 BRCA2 BRD4 BRF1 BRIP1 C12orf57 C2CD3 CAMK2A CAMK2G CANT1 CASK CASZ1 CBFB CBY1 CC2D2A CCBE1 CCDC28B CCDC47 CCDC8 CCN6 CD247 CD96 CDC42BPB CDC45 CDC6 CDH11 CDKL5 CDT1 CENPE CEP104 CEP120 CEP290 CEP41 CERT1 CFAP410 CHD4 CHD7 CHEK2 CHRNG CHST11 CHST3 CHSY1 CHUK CIBAR1 CILK1 CLCN5 CLCN7 CLTCL1 COASY COG1 COG4 COG8 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL4A1 COL9A1 COL9A2 COL9A3 COMP COMT COX4I1 CPLANE1 CPLX1 CREBBP CRKL CRPPA CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CTC1 CTCF CTSK CUL4B CUL7 CYP27A1 CYP27B1 CYP2R1 DACT1 DAG1 DCHS1 DCLRE1C DDR2 DDRGK1 DDX59 DDX6 DHCR24 DHCR7 DLK1 DLL4 DLX5 DMP1 DMXL2 DNAJC21 DNMT3A DOCK6 DOK7 DONSON DPH5 DUOX2 DUOXA2 DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A EBP ECEL1 EED EFL1 EFNB1 EIF2AK3 EIF4A3 EMG1 EN1 ENPP1 EOGT EP300 EPB41L1 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERGIC1 ESCO2 EVC EVC2 EXOC6B EXOC7 EXT1 EXT2 EXTL3 EZH2 FAM149B1 FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBN1 FBN2 FBXL4 FBXO11 FGD1 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP10 FKRP FKTN FLI1 FLNA FLNB FMR1 FN1 FUCA1 FZD2 GABBR2 GABRA1 GABRD GABRG2 GALNS GALNT2 GATA4 GBA1 GDF5 GDF6 GFM2 GHR GJA1 GJA5 GJA8 GJB2 GJB6 GLA GLB1 GLE1 GLI1 GLI3 GMNN GNA11 GNAO1 GNAS GNPTAB GNPTG GORAB GP1BB GPC3 GPC4 GPC6 GPX4 GRIN1 GRIP1 GRM7 GTF2E2 GUSB H4C3 H4C9 HADHA HADHB HBA1 HBA2 HCN1 HDAC4 HDAC6 HDAC8 HEATR3 HEPACAM HEPHL1 HERC2 HESX1 HINT1 HIRA HNRNPH1 HNRNPK HNRNPR HOXA13 HOXD10 HOXD13 HPGD HS2ST1 HSPA9 HSPG2 HTT HUWE1 HYLS1 IARS2 IDUA IFIH1 IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IFT80 IGF1R IHH IL2RA IL2RB IL2RG IL7R INPP5E INPP5K INPPL1 INTU IPO8 IQCE IYD JMJD1C KANSL1 KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNN3 KDELR2 KDM4B KDM5C KIAA0586 KIAA0753 KIAA0825 KIF14 KIF1A KIF22 KIF5C KIF7 KIFBP KMT2A KNSTRN LAMA5 LARGE1 LAS1L LBR LEMD2 LEMD3 LETM1 LHX3 LHX4 LIFR LIG4 LMBR1 LMNA LMNB2 LMX1B LRP4 LRP5 LTBP3 LUZP1 LYSET LZTFL1 MAD2L2 MADD MAF MAFB MAGEL2 MAN2B1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MASP1 MATN3 MBD5 MBTPS1 MECP2 MED25 MEG3 MEGF8 MET MGAT2 MGP MIA3 MKKS MKRN3 MKS1 MMP13 MMP14 MMP2 MMP23B MMP9 MSL3 MTHFS MTX2 MUSK MYBPC1 MYCN MYH3 MYH8 MYL11 NAA10 NALCN NANS NDE1 NDN NEK1 NEK8 NEK9 NELFA NEPRO NEUROD2 NF1 NFIX NGLY1 NIPBL NKX3-2 NOG NOTCH1 NOTCH2 NPAP1 NPHP3 NPR2 NRCAM NSD2 NSDHL NSUN2 NTNG1 NUP188 NUP88 NXN OBSL1 OCA2 OFD1 ORC1 ORC4 ORC6 OTUD5 P3H1 PALB2 PAM16 PAPPA2 PAPSS2 PCDH19 PCNT PCYT1A PDE4D PDE6D PDGFRB PDPN PEX1 PEX2 PEX5 PEX7 PHEX PHF6 PHGDH PHYH PI4KA PIBF1 PIEZO2 PIGF PIGG PIGL PIGN PIGP PIGQ PIGS PIGV PIK3C2A PIK3CA PIK3CD PITX1 PLAA PLEKHM1 PLOD2 PLOD3 PNKP POC1A POLR1A POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POP1 POR PORCN POU1F1 PPIB PPM1D PPP2R3C PRDM16 PRG4 PRKACA PRKACB PRKAR1A PRKCZ PRKG2 PRMT7 PROP1 PRR12 PSAP PSAT1 PTEN PTH1R PTHLH PTPN2 PTPN22 PUF60 PWAR1 PWRN1 RAB23 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RAG1 RAG2 RASA1 RB1 RBM10 RBM8A RBPJ RECQL4 RELN RERE RET RETREG1 RFWD3 RINT1 RIPK4 RMRP RNF2 RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL13 RPS6KA3 RREB1 RSPRY1 RTL1 RUNX2 RXYLT1 SALL1 SALL4 SAMD9 SATB1 SATB2 SBDS SC5D SCARF2 SCN1A SCN1B SCN2A SCN9A SCNM1 SCYL2 SEC24C SEMA3E SERPINF1 SERPINH1 SETBP1 SETD5 SF3B4 SGMS2 SH3PXD2B SHH SHOX SIK1 SIL1 SIM1 SIN3A SKI SKIC3 SLC10A7 SLC12A2 SLC25A22 SLC26A2 SLC29A3 SLC2A10 SLC31A1 SLC32A1 SLC34A3 SLC35A2 SLC35B2 SLC35C1 SLC35D1 SLC39A13 SLC5A5 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMC1A SMC3 SMO SMOC1 SMPD4 SNORD115-1 SNORD116-1 SNRPN SON SOX4 SOX9 SPART SPECC1L SPEN SRCAP SRP54 SRY STAT4 STX1B STXBP1 SUCLG1 SUFU SUMF1 SVBP SYT1 TAPT1 TBC1D24 TBCE TBL1XR1 TBX1 TBX15 TBX22 TBX3 TBX4 TBXAS1 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TFAP2B TG TGDS TGFB1 TGFB3 TINF2 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM38B TMEM53 TMEM67 TNFRSF11A TNFRSF11B TNNI2 TNNT3 TOGARAM1 TONSL TOPORS TOR1A TP53 TP63 TPM2 TPO TPR TRAF3IP1 TRAPPC2 TREX1 TRIM8 TRIP11 TRPS1 TRPV4 TRPV6 TRRAP TSHB TSHR TTC21B TTC26 TUBB3 TWIST1 TXNDC15 UBE2A UBE2T UBE3B UBE3C UBE4B UBR7 UFC1 UFD1 UFSP2 UNC45A USP7 USP9X VAC14 VDR VPS13B VPS35L WASF1 WDR19 WDR26 WDR35 WDR81 WLS WNK1 WNT10B WNT5A WNT7A WRN XRCC2 XYLT1 XYLT2 ZBTB20 ZC4H2 ZEB2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF141 ZNF407 ZNF423 ZSWIM6 HP_ABNORMAL_LOWER_LIMB_METAPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_METAPHYSIS_MORPHOLOGY AIFM1 BMP1 CFAP410 CHEK2 COL10A1 COL11A2 COMP CSPP1 DNAJC21 EZH2 FGFR3 KIAA0586 PAM16 PHEX RASA1 RB1 SBDS SETBP1 SRP54 TP53 TRIP11 TRPV4 UFSP2 HP_ABNORMAL_LOWER_LIMB_MOTOR_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_MOTOR_EVOKED_POTENTIALS CPT1C KPNA3 RTN2 SLC33A1 UBAP1 WASHC5 HP_ABNORMAL_LOWER_LIP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIP_MORPHOLOGY ABCA12 ABCC9 ABHD5 ACER3 ADAMTS2 ADNP AFF3 AGA AIP ALOX12B ALOXE3 AMER1 ANTXR1 AP2M1 ARID1A ARID1B ARID2 ASPRV1 ASXL3 ATP6V1B2 ATRX B9D1 BAZ1B BCAS3 BCL11A BCL7B BDNF BMP2 BUD23 CA2 CAMTA1 CBL CCDC8 CDH11 CDKL5 CDT1 CHAMP1 CHD2 CHN1 CLIC2 CLIP2 COL11A1 CUL4B CUL7 CYP4F22 DEAF1 DENND5A DHX30 DNAJC30 DOCK7 DPF2 DYRK1A EBF3 ECM1 EDA EDA2R EDAR EDARADD EDNRA EEF1A2 EHMT1 EIF4H ELN ERCC1 ERCC2 ERCC5 ERCC6 FBN1 FBXL4 FBXO11 FGD1 FHL1 FKBP6 FLNA FOXC1 FOXG1 FRMD4A FTSJ1 FUCA1 GBA1 GJA5 GJA8 GLA GNAI1 GNS GPR101 GRHL3 GTF2I GTF2IRD1 GTF2IRD2 H3-3A HDAC4 HECW2 HGSNAT HRAS HS2ST1 HSPG2 HUWE1 IDS IDUA IFT122 IFT43 IFT52 IGF1R INSR IRF6 IRX5 KANSL1 KAT5 KCNH1 KCNMA1 KCNN3 KDM6A KIF11 KIF15 KIFBP KMT2C KNSTRN KRAS LIMK1 LIPN LTBP1 LTBP3 LZTR1 MAFB MBD5 MCOLN1 MDH1 MECP2 MED12 MED12L MED13L MED25 METTL27 MGAT2 MLXIPL MRAS MSX1 MYCN MYO18B NAGA NANS NCF1 NEU1 NEXMIF NFIX NIPAL4 NRAS OBSL1 OCRL PACS2 PAX6 PCDHGC4 PHGDH PIGL PIGN PIK3CD PITX2 PLXND1 POMGNT1 POU4F1 PPP1CB PSMB8 PTH1R PTPN11 PUS7 QRICH1 RAB3GAP1 RAB3GAP2 RAF1 RASA2 RBMX RET REV3L RFC2 RHOBTB2 RIT1 RNF135 RPL10 RPS23 RPS6KA3 RRAS RRAS2 SALL4 SCARF2 SCN1A SDR9C7 SETD1B SHOC2 SIN3A SLC25A24 SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC5 SMG9 SMS SNRPN SOS1 SOS2 SOX11 SOX4 SPECC1L SPRED2 SRCAP STRADA STX1A SULT2B1 SYNGAP1 TASP1 TBC1D24 TBL1XR1 TBL2 TFAP2A TFAP2B TFE3 TGM1 THOC6 TMEM147 TMEM270 TMEM53 TNPO2 TTC26 UGDH VPS37D WDR19 WDR35 WT1 YY1 ZBTB20 ZEB2 ZSWIM6 HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY ALS2 ASAH1 ATXN3 C19orf12 C9orf72 CHCHD10 CHMP2B DCTN1 FUS GRN MAPT MATR3 PLEKHG5 PSEN1 SETX SPG11 SPG7 SQSTM1 TARDBP TBK1 TMEM106B TREM2 TRPM7 VCP VPS13D VPS41 HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY AMER1 ATG7 BMPER CCN6 CDH11 COL2A1 ERLIN2 EXTL3 FBXO28 FGFR3 FLNB GALNS GBA1 GLB1 GNPTAB GUSB KIF22 LBR LHX3 MAN2B1 MED12L MGAT2 NEPRO NPR2 NTRK1 POLR3GL POP1 RPS6KA3 SC5D SLC26A2 SLF2 TRAPPC2 VPS33A HP_ABNORMAL_LUNG_DEVELOPMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_DEVELOPMENT AARS2 ACE ACTA1 ADGRG6 AGT AGTR1 AKT1 ALDH1A2 ALG3 ALG9 ARVCF ASCC1 ATP5F1A B3GALT6 BCOR BMPER BUB1 BUB1B BUB3 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDC45 CEP120 CEP55 CEP57 CFAP221 CFAP298 CFAP300 CFAP74 CHRM3 CHRNA1 CHRND CHRNG CHUK COL2A1 COMT COQ7 CPLX1 CSPP1 CTBP1 CTNNA2 CUX1 DGCR2 DGCR6 DGCR8 DHCR7 DLK1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DOK7 DONSON DPAGT1 DRC1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EMG1 ESS2 ETFA ETFB ETFDH EVC EVC2 FAM20C FANCB FGF20 FGFR3 FLCN FLNA FLNB FOXF1 FOXJ1 FRAS1 FREM2 FUZ GAS2L2 GAS8 GATA6 GBA1 GDF1 GFRA1 GLDN GLE1 GLI1 GLI3 GP1BB GPC3 GPC4 GPKOW GREB1L GRIP1 HIRA HOXD13 HSPG2 HYDIN HYLS1 IFT140 IFT172 IFT80 IFT81 INTU INVS ITGA8 JMJD1C KAT6B KIAA0586 KIAA0753 KIF21A KLHL40 KLHL41 LBR LETM1 LGI4 LIFR LMNA LMOD3 LONP1 LRRC56 LTBP4 MCIDAS MCTP2 MEG3 MEIS2 MKKS MKS1 MUSK MYH11 MYH3 MYOD1 MYRF NAA10 NDUFB10 NEB NEK1 NEK10 NEK8 NEK9 NELFA NKX2-6 NME5 NME8 NODAL NPHP3 NSD2 NSDHL NUP88 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PEX1 PHGDH PI4KA PIEZO2 PIGG PIGN PIGT PKHD1 PLXND1 PORCN PRKACA PRKACB PRRX1 PTEN PTH1R PUF60 RAPSN RARB RBM10 REN RET RLIM RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTL1 RYR1 SCN4A SEC24C SETBP1 SF3B2 SLC18A3 SLC25A24 SLC26A2 SLC31A1 SMO SON SPAG1 SPECC1L SPEF2 STK36 STRA6 TAPT1 TBX1 TCTN3 TMEM94 TRIP11 TRIP13 TRIP4 TRPV4 TTC12 TTC21B TUBA1A TXNDC15 UFD1 VANGL1 WDR19 WDR35 WNT3 WNT4 WNT7B WNT9B WT1 ZFPM2 ZIC3 ZMPSTE24 ZMYND10 HP_ABNORMAL_LUNG_LOBATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_LOBATION AKT1 ALG9 ARVCF BUB1 BUB1B BUB3 CC2D2A CEP57 CHUK COMT DHCR7 EMG1 FANCB FOXF1 FRAS1 FREM2 GDF1 GLI3 GP1BB GPC3 GPC4 GRIP1 HIRA HYLS1 JMJD1C LBR MEIS2 NEK8 NKX2-6 NODAL PIGT PLXND1 PTEN PUF60 RREB1 RSPO2 SEC24C TBX1 TRIP13 UFD1 WNT3 WT1 ZIC3 HP_ABNORMAL_LUNG_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_MORPHOLOGY AAGAB AARS1 AARS2 AASS ABCA12 ABCA3 ABL1 ACADVL ACE ACP5 ACTA1 ACTA2 ACTC1 ACTN4 ACVR2B ACVRL1 ADA ADA2 ADAMTS19 ADAMTS2 ADAMTS3 ADGRG6 ADNP AFF4 AGA AGGF1 AGR2 AGRN AGT AGTR1 AICDA AK2 AKT1 ALB ALDH18A1 ALDH1A2 ALG12 ALG14 ALG3 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ANKFY1 ANLN AP3B1 AP3D1 APC2 APOL1 ARHGAP24 ARHGAP31 ARHGDIA ARHGEF1 ARID1A ARID1B ARID2 ARPC1B ARSB ARSL ARVCF ASAH1 ASCC1 ASPRV1 ASXL1 ATM ATP11A ATP5F1A ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B2M B3GALT6 B3GLCT BACH2 BAP1 BAZ1B BCL10 BCL11B BCL2 BCL6 BCL7B BCOR BCR BGN BIRC3 BLM BLNK BLTP1 BMP15 BMP2 BMPER BMPR2 BNC1 BRAF BRCA2 BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C1QB C3 C4A C4B CACNA1B CACNA1C CALCRL CARD10 CARD11 CARMIL2 CARS1 CASP10 CASP8 CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCN2 CCND1 CCNO CCNQ CCR1 CCR6 CD19 CD247 CD27 CD28 CD2AP CD3D CD3E CD3G CD4 CD40LG CD46 CD55 CD79A CD79B CD81 CD8A CDC42 CDC45 CDCA7 CDKN2A CDON CDT1 CEACAM3 CEACAM6 CEP120 CEP55 CEP57 CFAP221 CFAP298 CFAP300 CFAP410 CFAP53 CFAP74 CFB CFH CFI CFTR CHAMP1 CHAT CHD7 CHEK2 CHRM3 CHRNA1 CHRND CHRNG CHST14 CHUK CIITA CIROP CITED2 CLCA4 CLCN7 CLEC7A CLIP2 CLPB CNTN1 COG4 COG6 COL11A2 COL13A1 COL14A1 COL2A1 COL3A1 COL4A3 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMT COPA COQ7 COQ8B CORO1A CPLX1 CR2 CRB2 CREBBP CRELD1 CRKL CRLF1 CRTAP CSF2RA CSF2RB CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNA2 CTNNB1 CTNNBL1 CTPS1 CTRC CTSC CUX1 CXCR4 CYBA CYBB CYBC1 CYP27A1 CYP2A6 CYP4F22 DAAM2 DCLRE1C DCTN4 DDR2 DDX59 DEF6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DICER1 DIP2B DIS3L2 DISP1 DKC1 DLK1 DLL1 DLL3 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB4 DNAJC21 DNAJC30 DNAL1 DNASE1 DNASE1L3 DNMT3B DOCK2 DOCK6 DOCK8 DOK7 DONSON DPAGT1 DPF2 DPM2 DPP9 DPYSL5 DRC1 DSE DSG1 DSP DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EBP ECM1 EDA EDARADD EDNRA EDNRB EFEMP2 EFL1 EGFR EHHADH EHMT1 EIF2AK4 EIF4H ELANE ELF4 ELN ELP1 EMG1 EMP2 ENG EOGT EP300 EPG5 EPHB4 EPM2A ERAP1 ERBB2 ERCC2 ERCC3 ERCC6 ERF ESS2 ETFA ETFB ETFDH EVC EVC2 EWSR1 EXOSC9 EXT1 EXT2 EXTL3 FADD FAM111B FAM13A FAM20C FANCB FANCF FARSA FARSB FAS FASLG FAT4 FBLN5 FBN1 FBXO28 FBXW7 FCGR2A FCGR2B FCGR3A FCGR3B FCHO1 FCN3 FCSK FGF20 FGF8 FGFR1 FGFR3 FIG4 FIP1L1 FKBP6 FLCN FLI1 FLNA FLNB FLNC FLT4 FMO3 FOCAD FOXC2 FOXE3 FOXF1 FOXH1 FOXJ1 FOXN1 FOXP1 FOXP2 FOXP3 FRA10AC1 FRAS1 FREM2 FSHR FUCA1 FUT8 FUZ G6PC3 GAA GALNS GAPVD1 GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA6 GATM GBA1 GCLC GDF1 GEMIN4 GFI1 GFM2 GFRA1 GIPC1 GLA GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLUL GMNN GNPTAB GNS GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR35 GREB1L GRHL3 GRIA1 GRIP1 GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 GUSB H19 H4C3 H4C5 HACD1 HCK HELLPAR HELLS HERC2 HES7 HEY2 HFE HGSNAT HIRA HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMOX1 HOXD13 HPGD HPS1 HPS4 HPS6 HRAS HSPG2 HYDIN HYLS1 HYOU1 ICOS IDH1 IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IGBP1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL10 IL10RB IL12A IL12A-AS1 IL12RB1 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL6 IL6R IL6ST IL7R INF2 INPPL1 INTU INVS IPO8 IRAK1 IRAK4 IRF1 IRF2BP2 IRF4 IRF5 IRF8 ITCH ITGA3 ITGA7 ITGA8 ITK ITPR1 IVNS1ABP JAG1 JAGN1 JAK3 JMJD1C KANSL1 KAT6A KAT6B KATNIP KCNJ6 KCNN4 KDM5C KDM6A KEAP1 KIAA0319L KIAA0586 KIAA0753 KIF11 KIF1A KIF20A KIF21A KITLG KLHL40 KLHL41 KLRC4 KMT2D KNSTRN KPTN KRAS KRT5 LACC1 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMTOR2 LAT LBR LCK LEP LEPR LETM1 LFNG LGI4 LIFR LIG1 LIG4 LIMK1 LIPN LMNA LMNB1 LMOD3 LONP1 LOX LRBA LRIF1 LRP12 LRPPRC LRRC56 LRRC8A LTBP1 LTBP3 LTBP4 LYST LZTR1 MAGEL2 MAGI2 MAGT1 MALT1 MAN2B1 MANBA MAP2K1 MAP3K20 MAP3K8 MAPK1 MARS1 MARS2 MASP2 MAT2A MBTPS2 MCIDAS MCM4 MCTP2 MDFIC MDM2 MDM4 MECP2 MED12 MED25 MEFV MEG3 MEGF10 MEIS2 MESP2 METTL27 MFAP5 MGAT2 MGP MID1 MIF MIR140 MITF MKKS MKRN3 MKS1 MLXIPL MMP21 MOGS MPLKIP MRAS MRPS22 MS4A1 MSH4 MSN MST1 MT-CYB MTHFD1 MTM1 MTO1 MUC5B MUSK MYBPC3 MYD88 MYH11 MYH3 MYH6 MYH7 MYL2 MYL9 MYLK MYO1E MYO1H MYO5A MYO9A MYOD1 MYPN MYRF MYSM1 NAA10 NAB2 NABP1 NADK2 NAE1 NAF1 NAGLU NBN NCF1 NCF2 NCF4 NDN NDUFA6 NDUFAF6 NDUFB10 NDUFC2 NEB NECTIN1 NEK1 NEK10 NEK8 NEK9 NELFA NEPRO NEU1 NF1 NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NGLY1 NHLRC1 NHLRC2 NHP2 NIPA1 NIPA2 NIPAL4 NIPBL NKX2-1 NKX2-5 NKX2-6 NLRC4 NME5 NME8 NOD2 NODAL NOP10 NOS1 NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NPC2 NPHP3 NPHS1 NPHS2 NPM1 NR1H4 NR5A1 NRAS NSD1 NSD2 NSDHL NSMCE3 NTRK1 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP214 NUP37 NUP85 NUP88 NUP93 NXN OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORC1 ORC6 OSTM1 OTUD5 P4HA2 P4HTM PAFAH1B1 PAK2 PANK2 PARN PAX2 PAX6 PCGF2 PCNT PDGFRB PDHA1 PEPD PERP PET117 PEX1 PEX13 PEX5 PGM3 PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGT PIK3CA PIK3CD PIK3CG PIK3R1 PKD1L1 PKHD1 PKP1 PLA2G6 PLCE1 PLCG2 PLCH1 PLD1 PLEC PLG PLOD1 PLP1 PLVAP PLXND1 PML PMM2 PNP POLA1 POLE POLR2A POLR3A POLR3H PORCN POT1 POU6F2 PPP1CB PPP1R21 PPP2R1B PRG4 PRKACA PRKACB PRKAG2 PRKAR1A PRKCD PRKDC PRKG1 PRKN PRPS1 PRRX1 PRSS1 PRSS2 PRTN3 PSAP PSMB8 PSMC3IP PTCD3 PTCH1 PTEN PTH1R PTPN11 PTPN22 PTPRO PUF60 PURA PWAR1 PWRN1 PYROXD1 RAB3GAP2 RAC1 RAC2 RAF1 RAG1 RAG2 RANBP2 RAPSN RARA RARB RASA1 RASA2 RASGRP1 RB1 RBM10 RBPJ RCBTB1 REEP1 REL RELA RELB REN REST RET RFC2 RFT1 RFX5 RFX7 RFXANK RFXAP RHOH RILPL1 RIPK1 RIPPLY2 RIT1 RLIM RMRP RNF113A RNF125 RNF168 RNU4ATAC ROR2 RPA1 RPGR RPL10 RPS15A RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTEL1 RTL1 RUNX2 RYR1 SAMD9 SAMD9L SASH3 SAT1 SATB1 SBDS SCARB2 SCN10A SCN11A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SDCCAG8 SDHD SDR9C7 SEC24C SELENON SEMA4D SERPINA1 SERPINF2 SERPINH1 SETBP1 SETD2 SF3B2 SFTPA1 SFTPA2 SFTPB SFTPC SGCG SGSH SH2D1A SH3KBP1 SHH SHROOM4 SIAH1 SIK1 SIM1 SIX3 SKIC2 SKIC3 SLC11A1 SLC12A6 SLC18A3 SLC1A4 SLC22A18 SLC25A1 SLC25A22 SLC25A24 SLC26A2 SLC26A9 SLC29A3 SLC2A10 SLC31A1 SLC34A1 SLC34A2 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC41A1 SLC46A1 SLC52A3 SLC5A7 SLC6A14 SLC7A7 SLC9A3 SLCO2A1 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMG8 SMN1 SMO SMPD1 SNAI2 SNAP25 SNAP29 SNORD115-1 SNORD116-1 SNRPN SNX10 SOCS1 SON SOS1 SOS2 SOX10 SOX11 SOX18 SOX4 SOX9 SP110 SPAG1 SPECC1L SPEF2 SPI1 SPIDR SPINK1 SPINK5 SPP1 SPRED1 SPRED2 SPTBN4 SREBF1 SRP19 SRP54 STAG2 STAT1 STAT3 STAT4 STAT5B STAT6 STIL STING1 STK11 STK36 STK4 STN1 STRA6 STX1A STX3 STXBP2 SUCLG1 SULT2B1 SYK SYT2 TAF1 TAFAZZIN TAOK1 TAP1 TAP2 TAPBP TAPT1 TARS1 TASP1 TBC1D23 TBC1D24 TBC1D8B TBCD TBCE TBL1XR1 TBL2 TBX1 TBX20 TBX5 TBX6 TCEAL1 TCF3 TCF4 TCIRG1 TCTN3 TDGF1 TECPR2 TERC TERT TET2 TFG TFRC TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THOC2 THSD4 TIMM8A TIMMDC1 TINF2 TK2 TLL1 TLR4 TMCO1 TMEM260 TMEM270 TMEM94 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF9 TNFSF11 TNFSF12 TNNI3 TNNT2 TOM1 TONSL TP53 TP73 TPM2 TPM3 TPP2 TRAC TRAF3IP1 TRAF3IP2 TRAF7 TRAIP TREX1 TRIM28 TRIM37 TRIP11 TRIP13 TRIP4 TRPC6 TRPS1 TRPV3 TRPV4 TSC1 TSC2 TTC12 TTC21B TTC26 TTC7A TTR TUBA1A TUBG1 TXNDC15 TYK2 TYMS TYR UBA2 UBAC2 UBB UBE2A UFC1 UFD1 UGP2 UMPS UNC119 UNG UQCRH USB1 USP18 USP26 USP9X VAMP1 VANGL1 VARS1 VHL VPS33A VPS35L VPS37D VPS51 WAC WARS2 WAS WASHC5 WDR1 WDR19 WDR35 WIPF1 WNT3 WNT4 WNT7B WNT9B WRAP53 WRN WT1 XIAP YARS1 ZAP70 ZBTB16 ZBTB24 ZBTB7A ZCCHC8 ZEB2 ZFPM2 ZFTA ZIC2 ZIC3 ZMPSTE24 ZMYND10 ZNF341 ZNF668 ZNF699 ZNFX1 ZNHIT3 ZNRF3 ZSWIM7 HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY ADAMTS3 CCBE1 CD55 CELSR1 FAT4 FLT4 FOXF1 HRAS IFNG MPI PIEZO1 RASA1 SOX18 TSC1 TSC2 HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY ACP5 ADA ADA2 ADAMTS3 AGA AK2 ALG12 AP1S3 AP3B1 ARHGEF1 ARPC1B ATM ATP11A ATP6AP2 ATRX B2M BACH2 BCL10 BCL11B BLM BLNK BRAF BTK BTNL2 CARD11 CARD9 CASP10 CASP8 CCBE1 CD19 CD247 CD28 CD3D CD3E CD3G CD4 CD70 CD79A CD79B CD81 CD8A CDCA7 CDH23 CHD7 CIITA CLN3 CLN5 CLPB CORO1A CR2 CTLA4 CTNNBL1 CTPS1 CXCR4 CYBC1 DCLRE1B DCLRE1C DEF6 DIAPH1 DNMT3B DOCK2 DOCK8 EIF2AK3 ELANE ELF4 EPG5 EXTL3 FAS FASLG FAT4 FCGR3A FCHO1 FNIP1 FOCAD FOXN1 FOXP3 FUCA1 G6PC3 GATA2 GFI1 GINS1 GLB1 GTF2H5 HELLS HLA-DPB1 HLA-DRB1 HYOU1 ICOS IFIH1 IGHM IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL17RA IL21 IL2RA IL2RB IL2RG IL36RN IL6R IL6ST IL7 IL7R IRAK1 IRAK4 IRF2BP2 ITK IVNS1ABP JAK3 KLHDC8B KNSTRN KRAS LAT LBR LCK LCP2 LEP LEPR LIG1 LIG4 LMNB2 LRBA LYST MAGT1 MALT1 MAN2B1 MCM10 MCM4 MDM4 MGAT2 MS4A1 MSN MTHFD1 MYC MYD88 MYSM1 NAE1 NAF1 NBN NCAPG2 NCKAP1L NEU1 NFKB1 NFKB2 NFKBIA NHEJ1 NLRC4 NR3C1 NRAS NSMCE3 ORAI1 OTULIN PGM3 PI4KA PIK3CD PIK3CG PIK3R1 PLCG2 PNP PNPLA2 POMP PPT1 PRIM1 PRKCD PRKDC PSMB4 PSMB9 PTEN PTPRC RAC2 RAG1 RAG2 RASGRP1 REL RELB RFX5 RFXANK RFXAP RHOH RIPK1 RMRP RNASEH2B RPA1 RRAS2 SAMD9 SASH3 SAT1 SGPL1 SH2D1A SKIC2 SKIC3 SLC17A5 SLC39A7 SMARCAL1 SOCS1 SP110 SPI1 SPP1 SPRED2 SRP19 SRP54 STAT1 STAT2 STAT4 STIM1 STING1 STK4 STN1 SYK TBX2 TCF3 TCIRG1 TCN2 TERC TERT TET2 TFR2 TINF2 TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF9 TNFSF12 TOM1 TP53 TPP2 TRNT1 TTC7A TTI2 UNC119 USP48 USP8 WAS WDR1 WIPF1 XIAP XRCC4 ZAP70 ZBTB24 HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_PHYSIOLOGY AARS1 ADA ADA2 ADAM17 ADAMTS3 AICDA AK2 ALB ALG12 AP3B1 ARHGEF1 ARVCF ATM ATP6AP1 ATP6AP2 B2M BACH2 BCL10 BLM BLNK BTK CARD10 CARD11 CARD9 CARMIL2 CARS1 CASP10 CASP8 CAVIN1 CCBE1 CCND1 CD19 CD247 CD27 CD28 CD3D CD3E CD3G CD40 CD40LG CD55 CD70 CD79A CD79B CD81 CDCA7 CDSN CIITA CISD2 CNBP COG6 COL1A1 COL7A1 COMT CORO1A CR2 CSNK2A1 CTLA4 CTNNBL1 CTPS1 CXCR4 DCLRE1C DEF6 DGCR2 DGCR6 DGCR8 DNMT3B DOCK2 DOCK8 DSG1 EGFR ELANE EPG5 ERCC2 ERCC3 ESS2 EXTL3 FAS FASLG FAT4 FCGR3A FLNA FNIP1 FOXP3 GATA3 GBA1 GP1BB GPC3 GPC4 GPR35 GTF2E2 GTF2H5 HELLS HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 HYOU1 ICOS IFIH1 IFNGR1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL12A IL12RB1 IL17RA IL21 IL21R IL2RA IL2RB IL2RG IL4R IL6R IL6ST IL7R IPO8 IRAK4 IRF2BP2 IRF5 IRF8 ITCH ITK IVNS1ABP JAK3 JMJD1C KLHDC8B KNSTRN KRAS KRT14 KRT5 KRT74 KRT9 LAMTOR2 LAT LCK LCP2 LEP LEPR LIG1 LIG4 LMNA LRBA LRRC8A MAGT1 MALT1 MAN2B1 MCM10 MGAT2 MMEL1 MOGS MPLKIP MRTFA MS4A1 MS4A2 MSN MST1 MTHFD1 MTOR MUC5B MVK MYD88 MYSM1 NAE1 NBN NCKAP1L NFE2L2 NFKB1 NFKB2 NFKBIA NHEJ1 NHLRC2 NLRC4 NLRP1 NRAS NSMCE3 OAS1 ORAI1 OTULIN PEPD PGM3 PIGT PIK3CD PIK3CG PIK3R1 PLA2G7 PLCG2 PLVAP PMM2 PNP POLE POMP POU2AF1 PRF1 PRIM1 PRKCD PSMB4 PSMB8 PSMB9 PSTPIP1 PTEN PTPRC RAB27A RAC2 RAD50 RAG1 RAG2 RASGRP1 RBM8A REL RFX5 RFXANK RFXAP RIPK1 RMRP RNF113A RNF168 RNU4ATAC RPA1 RREB1 RTEL1 SAMD9L SASH3 SCARB2 SEC24C SEMA4D SETX SFTPA2 SFTPC SH2D1A SH3KBP1 SIK3 SKIC2 SKIC3 SLC25A13 SLC35C1 SLC39A4 SLC39A7 SLC46A1 SLC5A6 SLC7A7 SLF2 SMARCAL1 SON SP110 SPI1 SPIB SPINK5 SPPL2A SRP54 STAT1 STAT2 STAT3 STAT5B STIM1 STING1 STX11 STXBP2 SYK TARS1 TBX1 TCF3 TCF4 TCN2 TERT TFRC TGFB1 TIMM8A TLR8 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF9 TNFSF12 TNFSF15 TNPO3 TOM1 TONSL TP53 TPP2 TRMU TRNT1 TTC7A TYK2 TYMS UFD1 UMPS UNC13D UNG VPS33A VPS45 WAS WIPF1 XIAP ZAP70 ZBTB24 ZEB2 ZNF341 HP_ABNORMAL_LYMPHOCYTE_PROLIFERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_PROLIFERATION CARD11 CD247 CD27 CD3D CD3E CIITA CTPS1 DEF6 DOCK2 EXTL3 IKBKB IL2RA IL2RG IL7R JAK3 KNSTRN LCP2 LIG1 MALT1 MCM10 MGAT2 MRTFA NSMCE3 PGM3 PIK3CD PNP RAC2 RAG1 RAG2 RASGRP1 REL RFX5 RFXANK RFXAP SLF2 STAT1 SYK TGFB1 TNFRSF9 WIPF1 ZAP70 HP_ABNORMAL_LYMPH_NODE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPH_NODE_MORPHOLOGY ABCA1 ACP5 ADA ADA2 ADAMTS3 AGR2 AICDA ANKRD55 APOE ARPC1B ASAH1 ASXL1 ATM ATRX BANK1 BAP1 BCL10 BCL2 BCL6 BCOR BIRC3 BLK BRCA1 BRCA2 BTK BTNL2 C4A C4B CALR CARD9 CASP10 CASP8 CBL CCBE1 CCND1 CCR1 CD19 CD247 CD27 CD28 CD40 CD40LG CD70 CD81 CDKN2A CHD7 CLCN7 CR2 CTLA4 CTNNBL1 CXCR4 CYBA CYBB CYBC1 DAXX DCLRE1C DEF6 DIS3L2 DLEC1 DNASE1 DNASE1L3 EIF2AK4 ELANE EPHB4 ERAP1 ETS1 EWSR1 FAS FASLG FAT4 FCGR2B FCGR3B FCHO1 FERMT3 FIP1L1 FOXE1 FOXP1 FOXP3 GATA2 GINS1 GPC3 H19 HABP2 HLA-B HLA-DPB1 HLA-DRB1 HMOX1 ICOS IFIH1 IFNGR1 IGHG1 IKBKG IL10 IL12A IL12A-AS1 IL12RB1 IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R IRAK1 IRF2BP2 IRF4 IRF5 IRF8 ISG15 ITGAM ITK JAK2 JAK3 JAZF1 KIAA0319L KIT KLRC4 KRAS LACC1 LAT LCAT LIG4 LRBA LYST MAGT1 MALT1 MCM4 MECP2 MEFV MIF MINPP1 MPL MS4A1 MVK MYC MYD88 NABP1 NCF1 NCF2 NCF4 NCKAP1L NFATC2 NFKB1 NFKB2 NFKBIA NLRP12 NLRP3 NOD2 NPM1 NRAS NUMA1 OTULIN P4HA2 PALB2 PALLD PDCD1 PIK3CD PIK3CG PIK3R1 PML PNP POMP POU6F2 PRF1 PRKAR1A PRKCD PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN2 PTPN22 PTPRC PXK RAB27A RABL3 RAC2 RAG1 RAG2 RARA RASGRP1 RBCK1 REST RIPK1 RMRP RNF168 RNF6 RNU4ATAC RUNX1 SAT1 SDHD SH2D1A SH3BP2 SLC29A3 SMAD4 SMPD1 SNX10 SOCS1 SP110 SPP1 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STX11 STXBP2 SYK TBL1XR1 TCIRG1 TERT TET2 TGFBR2 TLR4 TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF9 TNFSF11 TNFSF12 TNFSF4 TNIP1 TP53 TPP2 TRAC TREX1 TRIM28 TRIP13 TSC1 TSC2 UBAC2 UBE2L3 UNC13D UNG WDR1 WT1 WWOX XIAP XRCC4 YARS1 ZAP70 ZBTB16 ZNFX1 HP_ABNORMAL_MACROPHAGE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY APOE ASAH1 CALR CD27 CTLA4 CYBA CYBB DNASE2 GLB1 GPR35 HAVCR2 HLA-DPA1 HLA-DPB1 IFNG IFNGR1 ITK JAK2 LIPA LYST MPL MST1 NCF1 NCF2 NEU1 NPC1 NPC2 PIK3CG PRF1 PRTN3 PTPN22 RAB27A SAMD9L SEMA4D SGCG SH2B3 SH2D1A SLC29A3 SLC7A7 SMPD1 STX11 STXBP2 TCF4 TLR8 UNC13D XIAP ZNFX1 HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE ABCC2 ACTN4 AKR1D1 ALAD ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA ATP11C BLVRA CD2AP CLTRN COL4A3 COQ8B CPOX CPT2 CRB2 DAAM2 DMD EMP2 GAPVD1 GATA1 HMBS INF2 IRAK1 LPIN1 MAGI2 MT-CO1 MT-CO3 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN PAX2 PLCE1 PTPRO PYGM SAT1 SLC6A19 SPP1 STAT4 TBC1D8B TRPC6 TSC1 TSC2 TTC26 UROD UROS WT1 HP_ABNORMAL_MACULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACULAR_MORPHOLOGY AARS1 ABCA4 ABCC6 ADAR AGXT AIPL1 ALDH3A2 ANO10 AP3D1 APC APOE ARHGEF18 ARL2BP ARL3 ASAH1 ATF6 ATOH7 ATXN7 BBS5 BEST1 BLOC1S3 BLOC1S5 C1QTNF5 C9 CACNA1F CARS1 CCND1 CCNQ CDH3 CEP78 CFAP418 CFH CFHR1 CFHR3 CFI CHM CHST6 CLCN2 CLDN19 CLEC3B CLN3 CNGA3 CNGB1 CNGB3 CNNM4 COG1 COL18A1 CP CRB1 CRLS1 CRX CST3 CTNNA1 CTNNB1 CYP4V2 DCT DHDDS DHX38 DPM1 DPYD DRAM2 EBP EDN3 EDNRB EFEMP1 ELOVL4 ENPP1 EPG5 ERCC2 ERCC3 FBLN1 FBLN5 FBN2 FOXC1 FZD4 GBA1 GDF3 GDF6 GNAT2 GPR143 GRK1 GTF2E2 GTF2H5 GUCA1A GUCA1B GUCY2D HARS1 HGSNAT HK1 HLA-A HMCN1 HMX1 HPS4 HPS5 HPS6 HTRA1 IDH3A IDS IFT140 IFT74 IKBKG IMPDH1 IMPG1 IMPG2 KCNV2 KIAA1549 KLHL7 LAMB2 LCA5 LIG3 LRAT LRP5 LYST LZTFL1 MAF MAK MAPKAPK3 MC1R MERTK MFRP MFSD8 MITF MMACHC MPDZ MPLKIP MT-TE MT-TK MT-TL1 MTSS2 MYO5A NDP NEU1 NF2 NLRP3 NMNAT1 NOD2 NR2E3 NRL OAT OCA2 OFD1 OPN1LW OPN1MW PAK2 PAX2 PAX6 PCYT1A PDE6C PDE6G PDE6H PEX1 PITPNM3 PLK4 POMGNT1 PPT1 PRCD PROM1 PRPF31 PRPF4 PRPF8 PRPH2 PRPS1 PRR12 RAB28 RAX2 RBP4 RD3 RDH5 REEP6 RHO RLBP1 RNF113A RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SCAPER SEMA4A SH3BP2 SIX6 SLC24A1 SLC24A5 SLC25A19 SLC38A8 SLC45A2 SLC6A6 SMPD1 SOX10 SPATA7 SPG11 SYCE1 TARS1 TENM3 TIMP3 TLCD3B TMCO1 TNFRSF11B TRAF3IP1 TREX1 TRIM44 TRNT1 TSPAN12 TTC8 TULP1 TYR UGP2 UNC119 VHL VPS13B WDR19 WT1 XYLT1 XYLT2 YARS1 ZFYVE26 ZNF408 ZNF513 HP_ABNORMAL_MAGNESIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAGNESIUM_CONCENTRATION ALDOB AP2S1 ATP1A1 BSND CACNA1S CASR CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CNNM2 CTNS DBH EGF FOXP3 FXYD2 GABRA3 GCM2 GNA11 GNB2 KCNJ1 KCNJ10 KCNJ18 PCBD1 PLVAP POLRMT RRAGD SARS2 SLC12A1 SLC12A3 TBCE TIAM1 TRPM6 HP_ABNORMAL_MALE_GERM_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_GERM_CELL_MORPHOLOGY ACTL9 AK7 AKAP3 ARMC2 AURKC BRDT C2CD6 CATIP CATSPER2 CCDC34 CCDC62 CDC14A CEP112 CFAP251 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CT55 DNAH1 DNAH10 DNAH17 DNAH2 DNAH7 DNAH8 DNALI1 DNHD1 DPY19L2 DRC1 DZIP1 FBXO43 FKBP6 FSHB FSIP2 GBA2 GGN IFT74 IQCN KCNU1 KLHL10 NANOS1 PMFBP1 PPP2R3C QRICH2 SEPTIN12 SPATA16 SPEF2 SSX1 STRC SUN5 TEKT3 TSGA10 TTC21A TTC29 USP26 WDR19 ZPBP HP_ABNORMAL_MALE_INTERNAL_GENITALIA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_INTERNAL_GENITALIA_MORPHOLOGY AAGAB ADGRG2 APC AR BARD1 BMPR1A BRCA1 BRCA2 BRIP1 BTK CCND1 CDH1 CDKN2A CEACAM3 CEACAM6 CFTR CHEK2 CLCA4 CLDN2 COL14A1 CREBBP CTLA4 DCTN4 DHH DHX37 EDNRA EP300 EPHB2 FOXE1 GCLC GREM1 GSTM3 HFE HGD HLA-DPA1 HLA-DPB1 HMOX1 HNF1B IGHG2 IGKC KCNN4 KLF6 MAD1L1 MDM2 MIF MRE11 MXI1 NAB2 NBN NR5A1 NTHL1 PALB2 PHF6 PRTN3 PSMB8 PTEN PTPN22 RAD50 RAD51 RAD51C RAD51D RNASEL RNF43 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SOX9 SRCAP SRY STAT6 STX1A TGFB1 TP53 UNG VHL ZFHX3 HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY AARS1 ABCA4 ABCD1 ABCD4 ABL1 ACTA2 ACTB ACTG2 ADAMTS3 ADARB1 ADAT3 ADGRG2 ADNP AEBP1 AFF4 AGA AGBL5 AHI1 AHR AIP AIRE AK7 AKAP3 AKR1C2 AKR1C4 AKT1 ALDH18A1 ALDH1A2 ALG12 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALX4 AMH AMHR2 ANAPC1 ANGPT2 ANK1 ANKLE2 ANKRD11 ANOS1 ANTXR1 AP1S2 APC2 AR ARCN1 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARMC2 ARNT2 ARVCF ARX ASH1L ASXL3 ATAD3A ATM ATN1 ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRX ATXN8OS AUTS2 AXL B3GALNT2 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL10 BCL7B BCOR BDNF BEST1 BICC1 BICRA BIN1 BLM BMP2 BMP4 BMP6 BPY2 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRDT BRF1 BRIP1 BRWD3 BUB1B BUD23 C14orf39 C2CD3 C4A CA4 CACNA1G CAMK2A CAMSAP1 CARS1 CASZ1 CATIP CATSPER1 CATSPER2 CBL CBX2 CC2D2A CCBE1 CCDC103 CCDC141 CCDC174 CCDC22 CCDC28B CCDC32 CCDC34 CCDC39 CCDC40 CCDC65 CCNO CCR1 CD96 CDC14A CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH11 CDH2 CDH23 CDHR1 CDK8 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDT1 CDY1 CDY2A CEP112 CEP120 CEP152 CEP19 CEP290 CERKL CFAP221 CFAP251 CFAP298 CFAP300 CFAP410 CFAP418 CFAP43 CFAP45 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CFTR CHD4 CHD7 CHEK2 CHRM3 CHRNG CHST14 CILK1 CISD2 CITED2 CKAP2L CLCN3 CLCN4 CLDN2 CLIC2 CLIP2 CLP1 CLRN1 CNBP CNGA1 CNGB1 COG1 COG5 COL3A1 COL4A1 COLEC10 COLEC11 COMT COQ2 COX7B CPE CPLANE1 CPLX1 CRB1 CREBBP CRPPA CRX CSPP1 CT55 CTBP1 CTC1 CTCF CTDP1 CTNS CUL4B CUL7 CWC27 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DBH DCAF17 DCC DDB2 DDX3X DDX3Y DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHH DHODH DHX37 DHX38 DICER1 DIS3L2 DKC1 DLK1 DLL3 DLX4 DMPK DMRT1 DMRT3 DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAJC6 DNAL1 DNALI1 DNHD1 DNM2 DNMT3A DOK7 DPAGT1 DPF2 DPH2 DPP9 DPYSL5 DRC1 DSE DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1 EBF3 EBP EDEM3 EED EFNB1 EHMT1 EIF2S3 EIF4H EIF5A ELN EMG1 EP300 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 EVC EVC2 EWSR1 EXT2 EYS EZH2 FAM111A FAM149B1 FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FAT4 FBLN1 FBN1 FBXO43 FBXW7 FDFT1 FEZF1 FGD1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FKTN FLG FLI1 FLNA FLNB FLRT3 FLT4 FMR1 FOCAD FOXA2 FOXJ1 FRAS1 FREM2 FSCN2 FSHB FSIP2 FTO FUZ FXR1 FZD2 G6PC3 GABRD GALC GALT GANAB GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GBA1 GBA2 GCNA GDF1 GDF6 GFM2 GJA1 GJA5 GJB3 GJB4 GJC2 GK GLE1 GLI1 GLI2 GLI3 GMNN GMPPB GNAS GNB2 GNRH1 GNRHR GP1BB GPC3 GPC4 GPC6 GPR101 GPR161 GRB10 GRIA2 GRIA3 GRIN2B GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY1A1 H1-4 H19 H4C5 H4C9 HAMP HBA1 HBA2 HBB HCCS HDAC4 HDAC8 HERC2 HES7 HESX1 HEXB HFE HGSNAT HIBCH HIRA HJV HLA-B HMGA2 HNF1B HNRNPH1 HNRNPK HNRNPR HOXD13 HPRT1 HPSE2 HRAS HS2ST1 HS6ST1 HSD17B3 HSD3B2 HSFY1 HSPG2 HTRA2 HUWE1 HYDIN HYLS1 HYMAI IDH3A IDH3B IER3IP1 IFNGR1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGBP1 IGF2 IL10 IL12A IL12A-AS1 IL17RD IL1RAPL1 IL23R IMPDH1 IMPG1 IMPG2 INPPL1 INSL3 IRF4 IRF6 IRX5 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KCNAB2 KCNJ6 KCNQ1 KCNQ1OT1 KCNU1 KDM1A KDM3B KDM5B KDM5C KDM5D KDM6A KDM6B KDR KDSR KEAP1 KIAA0753 KIAA1549 KIF21A KIF7 KISS1 KISS1R KIT KIZ KLHL10 KLHL15 KLHL7 KLRC4 KMT2A KMT2D KMT2E KMT5B KRAS LARGE1 LARP7 LAS1L LEP LEPR LETM1 LFNG LHB LHCGR LHX1 LHX4 LIG4 LIMK1 LMBR1 LMNA LMNB1 LMNB2 LMOD1 LMX1B LONP1 LRAT LRIG2 LRRC56 LRRK2 LSS LUZP1 LZTFL1 LZTR1 M1AP MAD2L2 MADD MAF MAGEL2 MAK MAMLD1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MBTPS2 MC2R MCIDAS MCM5 MCM8 MCTP2 MDFIC MDM2 MECOM MECP2 MED11 MED12 MED13L MEFV MEG3 MEGF8 MEIOB MEN1 MERTK MESP2 METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MOGS MOV10L1 MPLKIP MRAP MRAS MRPS28 MSH4 MSH5 MTM1 MTMR14 MTOR MUSK MYF6 MYH11 MYH3 MYL11 MYLK MYMK MYOD1 MYRF NAA10 NAF1 NALCN NANOS1 NCF1 NDN NDNF NDP NDUFB11 NDUFB7 NEDD4L NEK10 NEK2 NELFA NF1 NF2 NFIB NFIX NHLH2 NHP2 NIPBL NKAP NKX2-5 NKX2-6 NME5 NME8 NNT NONO NOP10 NOTCH2 NOTCH3 NPAP1 NPHP1 NPM1 NR0B1 NR2E3 NR3C1 NR5A1 NRAS NRL NSD1 NSD2 NSMF NSUN2 NUP88 NXN OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTUD6B OTX2 PACS1 PACS2 PAICS PALB2 PANX1 PARK7 PARN PATL2 PAX2 PAX6 PAX7 PBX1 PCARE PDE11A PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDHA2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHF6 PHF8 PHGDH PHIP PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGS PIK3C2A PIK3CA PINK1 PKD1 PKD2 PLAG1 PLAGL1 PLVAP PMFBP1 PMM2 PNLDC1 PNPLA6 POC1A PODXL POLA1 POLD1 POLE POLG POLR1B POLR1C POLR1D POLR3A POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU3F3 PPFIBP1 PPP1CB PPP1R12A PPP1R15B PQBP1 PRCD PRDM13 PRDM16 PRIM1 PRKACA PRKACB PRKAR1A PRKCZ PRKN PRMT7 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRY PRY2 PSMC1 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PTPRF PWAR1 PWRN1 PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RASA2 RBM10 RBMX RBMY1A1 RBP3 RDH12 RECQL4 REEP6 RERE RFC2 RFWD3 RGR RHO RIN2 RIPK4 RIPPLY2 RIT1 RLBP1 RLIM RNF113A RNF135 RNF212 RNU4ATAC ROBO1 ROM1 ROR2 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL10L RPS4Y2 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RTEL1 RTL1 RTN2 RTTN RXYLT1 RYR1 SACS SAG SALL1 SAMD9 SATB2 SCAPER SCLT1 SCP2 SCYL2 SDCCAG8 SEC23A SEC24C SEMA3A SEMA3E SEMA4A SEPTIN12 SETBP1 SETD1A SETD2 SETD5 SGPL1 SHOC1 SHOC2 SIAH1 SIM1 SIN3A SIX6 SKI SLC16A2 SLC18A3 SLC19A2 SLC25A10 SLC25A24 SLC26A2 SLC26A8 SLC29A3 SLC34A2 SLC35D1 SLC39A4 SLC40A1 SLC7A14 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMOC1 SMS SNCA SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOS1 SOS2 SOX10 SOX11 SOX18 SOX2 SOX3 SOX4 SOX9 SPAG1 SPAG17 SPATA7 SPECC1L SPEF2 SPEN SPINK2 SPRED2 SPRY4 SRA1 SRCAP SRD5A2 SRY SSX1 STAC3 STAG1 STAG3 STAR STAT4 STEAP3 STK11 STK36 STRA6 STRC STS STT3A STT3B STX1A STXBP1 SUFU SUN5 SUZ12 SYCE1 SYCP2 SYCP3 SYNE1 SYNJ1 TAC3 TACR3 TAF4B TAF6 TARS1 TASP1 TBC1D20 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX22 TBX3 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDRD9 TEKT3 TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TFAP2A TFR2 TGDS THOC2 THSD1 TIAM1 TINF2 TLR4 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMEM94 TNFRSF1A TNRC6B TOE1 TOGARAM1 TOPORS TP53 TP63 TPM2 TRAF7 TRIM32 TRIP4 TRPM3 TRRAP TSHB TSPY1 TSPYL1 TSR2 TTC12 TTC21A TTC29 TTC5 TTC8 TTR TUB TUBA1A TUBB TUBB8 TULP1 TWIST1 TWIST2 TXNDC15 TXNRD2 TYMS UBA1 UBAC2 UBAP1 UBE2A UBE2T UBE4B UBR1 UBR7 UCHL1 UFD1 UPF3B UQCC2 USB1 USH2A USP26 USP7 USP9Y VAC14 VAMP7 VANGL1 VCY VEGFC VPS13B VPS13C VPS35L VPS37D VPS50 WDPCP WDR11 WDR19 WDR35 WDR37 WDR62 WEE2 WFS1 WNT3 WNT4 WNT5A WNT7A WNT7B WRAP53 WRN WT1 WWOX XKRY XPA XPC XRCC2 XRCC4 XYLT2 YY1 ZBTB20 ZDHHC9 ZEB2 ZFPM2 ZMIZ1 ZMYM2 ZMYND10 ZMYND15 ZNF408 ZNF513 ZNF699 ZPR1 ZSWIM6 ZSWIM7 HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY EDN1 GNAI3 HMX1 KCNJ2 NFIX PLCB4 HP_ABNORMAL_MASTOID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MASTOID_MORPHOLOGY CDH11 CTSK DLX3 MALT1 NBN PAX1 RAG1 RAG2 SLC39A14 TPP2 HP_ABNORMAL_MAST_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAST_CELL_MORPHOLOGY ASXL1 CBL CYP26C1 KIT LYST RUNX1 SRSF2 TET2 HP_ABNORMAL_MAXILLA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAXILLA_MORPHOLOGY ABL1 ADAMTS10 AKT1 ALX1 ALX3 AP2M1 ARHGAP29 ARHGEF38 ARSL ATP6V1E1 B3GLCT BGN BMP2 BMP4 CBFB CDC45 CDC6 CDH1 CDH11 CDT1 CHSY1 COBLL1 COL11A1 COL2A1 COL5A1 COLEC11 CREBBP CTC1 CTSK DCHS1 DKC1 DLG1 DLK1 DLX4 EDA EDNRA EFEMP2 EFTUD2 EP300 ERF ESCO2 FAT4 FBN1 FGD1 FGF3 FGFR1 FGFR2 FGFR3 FHL1 FLNB FOXC1 FOXP2 GJA1 GLI2 GMNN GORAB GPC4 GRHL3 HBB HRAS IFIH1 IL11RA IRF6 KCNJ2 KCNJ5 KDM5C KIFBP LBR LTBP3 MAFB MED12 MEG3 MMP2 MSX1 NECTIN1 NFIX NHP2 NOP10 NPM1 NRAS ORC1 ORC4 ORC6 PARN PAX3 PDE4D PDGFRA PDGFRB PEX19 PIK3CA PITX2 POLR1A POLR1B POLR1C POLR1D PQBP1 PRKACA PRKAR1A PTCH1 PTEN PYCR2 RAB23 RAB3GAP2 RECQL RIC1 RIPK4 RPS6KA3 RTEL1 RTL1 RUNX2 SCARF2 SEC23A SETD2 SF3B2 SF3B4 SIN3A SIX3 SKI SLC12A6 SLC25A24 SMAD4 SMOC1 SNRPN SOBP SON SOX5 SRCAP STAMBP TBC1D2B TCOF1 TERC TERT TINF2 TMCO1 TP63 TRMT1 TUBGCP2 TWIST1 TWIST2 TYMS UBB UBE3A UPF3B USB1 VPS13B WDR26 WRAP53 ZBTB11 ZBTB20 ZDHHC9 ZNF668 HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION AARS1 ANK1 CARS1 CD46 CFH CFI EPB42 ERCC2 ERCC3 GTF2E2 GTF2H5 HBB HELLPAR KCNN4 MPLKIP PIEZO1 RHAG RNF113A SLC4A1 SPTA1 SPTB TARS1 HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME ABCB6 ADA2 ANKRD11 CBLIF DHFR DNAJC21 DUT EFL1 ETV6 GATA1 GLRX5 HBB HEATR3 KCNN4 KIF23 LARS2 LIG1 LPIN2 MDM4 MMADHC MTRR NHLRC2 PIEZO1 RACGAP1 RHAG RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMD9 SAMD9L SBDS SLC11A2 SLC25A38 SLC4A1 SPTB SRP54 STEAP3 TERC TERT TINF2 TRNT1 TSR2 HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY ANKRD26 CALR FYB1 GATA1 GATA2 GNA14 GP1BA GP1BB GP9 HOXA11 JAK2 KIF15 MPL MYH9 MYSM1 RFWD3 RPS14 SAMD9 SF3B1 SH2B3 SLC35A1 TET2 TP53 UBA1 ZNFX1 HP_ABNORMAL_MENINGEAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MENINGEAL_MORPHOLOGY ABCC6 ACTA2 ADAT3 AKT1 ALG5 ALG9 ALKBH8 ALX4 ARID2 ARMC5 ARPC4 ARVCF ATN1 ATP6AP1 B3GALNT2 BAP1 BICC1 BMPER CCDC22 CCL2 CCM2 CDKN1A CDKN1B CDKN2B CDKN2C CDON CEP290 CHEK2 COL11A1 COL18A1 COMT COQ6 CPLANE1 CREBBP CRPPA CSPP1 DACT1 DDR2 DENND5A DHCR7 DISP1 DLL1 DLL3 DNAJB11 DNAJC19 EBP EIF3F ELN EP300 FBN1 FGF8 FGFR1 FGFR2 FKRP FKTN FLNA FOXC2 FOXE3 FOXH1 FRAS1 FREM2 FUZ GANAB GAS1 GJA1 GLI2 GLI3 GMPPB GNAS GP1BB GPSM2 GRIP1 H19 HES7 HEY2 HIRA HNRNPK HRAS IFT140 IGF2 INPP5E JMJD1C KANSL1 KCNC2 KCNQ1OT1 KIAA0586 KLLN KRAS KRIT1 LARGE1 LFNG LMNA LOX LZTR1 MAT2A MBD4 MEN1 MESP2 MFAP5 MN1 MSX2 MYH11 MYLK NARS1 NDE1 NEK1 NF1 NF2 NODAL NOTCH3 NRAS NRCAM NSD1 NTHL1 OFD1 OTUD5 PAX3 PDCD10 PDGFB PDGFRB PI4KA PIK3CA PKD1 PKD2 PLCH1 PLK4 POMGNT1 POMT1 POMT2 PORCN PPP2R5D PRKG1 PTCH1 PTEN PUF60 PUS3 RAB3GAP2 RASA1 RIPPLY2 RNU4ATAC RREB1 RTTN SACS SC5D SCN1A SCN2A SDHB SDHC SDHD SEC23B SEC24C SH2B1 SHANK3 SHH SIN3A SIX3 SLC30A9 SMAD2 SMAD3 SMAD4 SMARCB1 SMARCE1 SMC1A SMO SNRPB SON STAG2 STIL STT3A SUFU TBX1 TBXT TDGF1 TERT TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THSD4 TMEM216 TMEM231 TMEM237 TRAF7 TTR UFD1 USF3 VANGL1 VANGL2 WAC WLS WNT7A WRN XPNPEP3 ZIC2 ZIC3 ZNFX1 ZSWIM6 HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS ACAT1 ADORA2A ASPA ATAD3A CACNA1G CNP COG8 COX11 COX16 CYP27A1 DNM1L ECHS1 FARS2 FBXO28 FOCAD GALC GAMT GATM GFM2 GRM7 HPDL HSD17B10 HTRA2 IBA57 KARS1 LYRM4 LYRM7 MECR MRPS34 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTRFR NAT8L NAXE NDUFAF6 NDUFB7 NGLY1 POLR3A POLRMT PSAP RPIA SDHAF1 SDHB SDHD SLC25A12 SLC35A2 SLC39A8 SLC6A8 SQOR SUCLG1 TBCK VARS2 HP_ABNORMAL_METABOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLISM ABCD1 ABCD4 ACOX2 ACSF3 AGA AKR1D1 ALDH18A1 ALDH4A1 ALDH6A1 ALDOB ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 AMACR AMN APOB ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BCO1 CAD CAMLG CASP10 CBLIF CBS CCDC115 CCND1 CD320 CLCN5 COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL7A1 CTNS CUBN CYP27B1 CYP2R1 CYP3A4 CYP7A1 CYP7B1 DDOST DHFR DLAT DMP1 DNAJC21 DOLK DPAGT1 DPM1 DPM2 DPM3 DZIP1L EDEM3 EFL1 ELN ENPP1 ERCC2 ERCC3 ERCC4 ERCC5 FARSB FAS FASLG FBLN5 FGF23 FOCAD FTCD GALM GALNT2 GALNT3 GALT GATA1 GBA2 GET4 GORAB GPR35 GRM7 GUCY2C HCFC1 HLA-DQA1 HLA-DQB1 IARS1 KHK KL LMBRD1 LRP5 MAGT1 MAN1B1 MGAT2 MMAA MMAB MMACHC MMADHC MMP1 MMUT MPDU1 MPI MST1 MTHFD1 MTR MTRR MTTP OCRL OTUD5 PGM1 PGM2L1 PKHD1 PMM2 PNPLA8 PRDX1 PRKCD PTH1R RASGRP1 RFT1 RNF13 RPL11 RPS10 SAR1B SBDS SEMA4D SIM1 SLC10A1 SLC19A1 SLC2A2 SLC30A10 SLC34A1 SLC34A3 SLC35A2 SLC37A4 SLC39A8 SLC46A1 SLC51B SLC52A1 SPTBN1 SRD5A3 SRP54 SSR4 STT3A STT3B SUCLA2 SUCLG1 TAT TCF4 TCN2 TJP2 TMEM199 TTPA TTR UROS VDR ZNF699 HP_ABNORMAL_METACARPAL_EPIPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_EPIPHYSIS_MORPHOLOGY BGN BPNT2 COG4 COL9A1 COL9A2 COL9A3 CPLX1 CTBP1 FGFRL1 GPX4 IHH LETM1 NPR3 NSD2 PCNT POR RPS6KA3 SALL1 HP_ABNORMAL_METACARPAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_MORPHOLOGY ACVR1 ADAMTS10 ADAMTSL2 AKT1 ANAPC1 ANKRD55 APC ARHGAP31 ASXL1 ASXL2 B3GALT6 B3GAT3 B3GLCT BGN BHLHA9 BMP2 BMP6 BMPR1B BPNT2 BRD4 CANT1 CD247 CD96 CHST3 CHSY1 CLCN7 COG4 COL11A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CPLX1 CSPP1 CTBP1 CWC27 DCHS1 DDR2 DHCR7 DLK1 DLL4 DNMT3A DOCK6 DONSON DYM EIF4A3 EOGT ESCO2 EXT1 EXT2 EXTL3 FAM149B1 FANCD2 FANCI FAT4 FBLN1 FBN1 FBXL3 FERMT1 FGF16 FGF9 FGFR1 FGFR3 FGFRL1 FIG4 FLNA FLNB FMR1 FZD2 GALNS GDF5 GJB6 GLB1 GLI3 GNAS GNAS-AS1 GPX4 GUSB HDAC4 HDAC8 HFE HHAT HOXA13 HOXD13 IFIH1 IFT140 IFT27 IFT52 IFT80 IHH IL2RA IL2RB INPP5K INPPL1 INTU KCNJ2 KIAA0586 KIAA0753 KIF22 KIF7 KL KNSTRN LAMA5 LBR LETM1 LMBR1 LONP1 LRP4 LRP5 LTBP3 MAFB MAP3K7 MATN3 MEG3 MKKS MMP14 MMP2 MYL11 MYSM1 NEK1 NEPRO NFIX NHS NIPBL NOG NONO NOTCH1 NPR2 NPR3 NSD1 NSD2 OFD1 P3H1 PCNT PCYT1A PDE3A PDE4D PDE6D PEX7 PHYH PIGS PIK3CD PLXND1 POC1A POR PORCN PQBP1 PRG4 PRKAR1A PRKG2 PRMT7 PTCH1 PTDSS1 PTEN PTH1R PTHLH PTPN2 PTPN22 RAB33B RAB3GAP2 RAD21 RBPJ RECQL4 REV3L RIPK4 RMRP RNF13 RNU4ATAC ROBO1 ROR2 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL1 SALL4 SCARF2 SETBP1 SH3PXD2B SHH SHOX SIL1 SLC25A24 SLC26A2 SLC39A13 SMARCA2 SMC1A SMC3 SMOC1 SOX9 SPARC SRCAP SRY STAT4 STX16 SVBP TBX3 TBX5 TCF12 TCTN3 TFE3 TGDS TMEM216 TOPORS TP63 TRIO TRIP11 TRPS1 TWIST1 TWIST2 VAC14 VPS13B VPS35L WNT7A XRCC2 XYLT1 ZIC1 HP_ABNORMAL_METACARPOPHALANGEAL_JOINT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPOPHALANGEAL_JOINT_MORPHOLOGY ANKRD55 ASXL1 B3GAT3 BMP6 CD247 CHST3 COL2A1 COL3A1 FLNA FMR1 GDF5 GJB6 HFE IL2RA IL2RB MAP3K7 MYL11 NOG NONO POR PQBP1 PTPN2 PTPN22 RNF13 STAT4 HP_ABNORMAL_METAPHYSEAL_TRABECULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSEAL_TRABECULATION AMER1 CTC1 DKC1 LIFR NHP2 NOP10 NOTCH2 NPM1 PARN PLCB3 PORCN RTEL1 SLC29A3 TCIRG1 TERC TERT TINF2 TNFRSF11A TNFRSF11B TRPV4 TYMS USB1 VDR WRAP53 HP_ABNORMAL_METAPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSIS_MORPHOLOGY ABCC9 ACAN ACP5 ACSL4 ACVR1 ADA AIFM1 ALG3 ALG9 ALPL AMER1 AMMECR1 ANAPC1 ANKH ANTXR1 ARCN1 ARSB ATP7A B3GALT6 B3GAT3 B4GALT7 BGN BMP1 BMPR1B CANT1 CASR CCDC8 CCN6 CDKN1C CENPE CEP120 CFAP410 CHD7 CHEK2 CHST3 CLCN5 CLCN7 COG4 COL10A1 COL11A1 COL11A2 COL2A1 COMP CRTAP CSF1R CSGALNACT1 CSPP1 CTC1 CTNS CUL7 CWC27 CYP27B1 CYP2R1 CYP3A4 DCLRE1C DDR2 DDRGK1 DKC1 DLK1 DNAJC21 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EED EFL1 EIF2AK3 ERCC1 EXOC6B EXT1 EXT2 EXTL3 EZH2 FAM111A FBN1 FGFR3 FIG4 FLNA FN1 GALNS GJA1 GLB1 GNAS GNPTAB GPC6 GPX4 GSC HDAC6 HNRNPH1 HSPG2 IARS2 IDH1 IDH2 IDUA IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IL2RG IL6ST IL7R INPPL1 KCNE5 KCNJ8 KIAA0586 KIAA0753 KIF22 LBR LIFR LIG4 LMBR1 LONP1 LPIN2 LRP5 LRRK1 MAGEL2 MAP3K7 MATN3 MEG3 MMP13 MMP2 MMP9 MTAP NANS NDN NEPRO NHP2 NKX3-2 NOP10 NOTCH2 NOTCH3 NPM1 NPR2 NSD1 NSMCE2 OBSL1 OCRL OSTM1 P4HB PAM16 PARN PCNT PCYT1A PDGFRB PEX5 PEX7 PHEX PIK3C2A PISD PITX1 PLCB3 PLEKHM1 POLE POLR1A POP1 PORCN PRKG2 PTDSS1 PTH1R PTPN11 QRICH1 RAB33B RAB3GAP2 RAG1 RAG2 RASA1 RB1 RECQL4 RMRP RNU4ATAC RPL13 RSPRY1 RTEL1 RTL1 RUNX2 SBDS SEC24D SETBP1 SFRP4 SH3PXD2B SHOX SIK3 SKI SLC17A5 SLC26A2 SLC29A3 SLC34A3 SLC35D1 SLC39A13 SMAD4 SNRPN SNX10 SRP54 STX16 SUZ12 TAPT1 TBXAS1 TCIRG1 TERC TERT TGFB1 TINF2 TMEM165 TMEM53 TNFRSF11A TNFRSF11B TNFSF11 TONSL TP53 TRAPPC2 TRIP11 TRPV4 TRPV6 TTC21B TYMS UFSP2 USB1 VAC14 VDR VPS33A WDR19 WDR26 WDR35 WRAP53 XYLT1 HP_ABNORMAL_METATARSAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METATARSAL_MORPHOLOGY ABCC9 ACVR1 ADAMTS10 AKT1 ANKRD55 ATL3 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GAT1 BMPR1B CANT1 CD247 CDC42BPB CHST3 CHSY1 COG4 COL2A1 COL4A1 CPLX1 CRPPA CTBP1 DAG1 DCHS1 DDR2 DHCR24 DHCR7 DLK1 DYM EP300 ERCC6 EZH2 FAT4 FBLN1 FBN1 FBN2 FGF9 FGFR1 FGFR2 FGFRL1 FIBP FIG4 FKRP FKTN FLNA FLNB GDF5 GLI3 GNAS GUSB HDAC4 HEPHL1 HINT1 HOXA13 HOXD13 HSPG2 IFIH1 IFT140 IFT52 IHH IL2RA IL2RB INPP5K IQCE KCNJ2 KIF22 KNSTRN LARGE1 LETM1 LIG4 LMBR1 LMNB2 LRP5 LZTFL1 MAFB MAP3K20 MAP3K7 MAPK1 MEG3 MET MMP2 MYH8 NAA10 NALCN NEK1 NPR2 NSD2 NSUN2 PDE4D PEX1 PEX2 PEX5 PEX7 PHYH PIEZO2 PIGS PIK3CD POC1A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PRG4 PRKAR1A PRKG2 PRMT7 PTEN PTH1R PTHLH PTPN2 PTPN22 RAB23 RAB33B RAB3GAP2 RBPJ RIPK4 RSPRY1 RTL1 RXYLT1 SALL1 SH3PXD2B SHOX SIL1 SKI SLC26A2 SLC35A2 SMARCA2 SMOC1 SOX9 SRY STAT4 TCF4 TGDS TNNI2 TNNT3 TP63 TRPS1 TRPV4 TTC26 TUBB3 TWIST1 UBE3B VAC14 VPS13B VPS35L WDR26 WNT7A ZBTB20 ZNF407 HP_ABNORMAL_METENCEPHALON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METENCEPHALON_MORPHOLOGY AARS1 AARS2 ABAT ABCD1 ABHD12 ACD ACO2 ACTL6B ACY1 ADGRG1 ADGRV1 ADPRS ADSL AFF3 AFG3L2 AGTPBP1 AHCY AHDC1 AHI1 AIMP2 AIPL1 AKT1 ALDH18A1 ALDH5A1 ALG1 ALG12 ALG3 ALG6 ALG9 ALS2 ALX4 AMPD2 ANO10 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APTX ARCN1 ARF1 ARG1 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSI ARX ASNS ASPM ASXL1 ASXL3 ATAD3A ATCAY ATG5 ATG7 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP8A2 ATP9A ATPAF1 ATPAF2 ATR ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B3GALNT2 B4GALNT1 B4GALT1 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BCAP31 BCAS3 BCL11A BCL7B BCOR BCORL1 BCS1L BEAN1 BICD2 BICRA BLTP1 BMP4 BRAT1 BRD4 BRF1 BTD BUB1 BUB1B BUB3 BUD23 C19orf12 C2CD3 CACNA1A CACNA1G CACNA2D2 CAMK2B CAMLG CAMSAP1 CAMTA1 CARS1 CARS2 CASK CBY1 CC2D2A CCDC22 CCDC32 CCDC47 CCDC88A CCDC88C CCND1 CDC40 CDC42 CDC42BPB CDC45 CDH23 CDK5 CDKL5 CDKN1C CDON CENPE CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP55 CEP57 CEP85L CERS1 CHD4 CHD7 CHMP1A CHP1 CIB2 CILK1 CIT CIZ1 CKAP2L CLCN3 CLCN7 CLIP2 CLN3 CLN5 CLN8 CLPB CLTC CNP CNTNAP1 CNTNAP2 COA7 COASY COG1 COG5 COG6 COG7 COG8 COL18A1 COL3A1 COL4A1 COQ2 COQ4 COQ5 COQ8A COQ9 COX20 COX4I1 CP CPLANE1 CPLX1 CPSF3 CPT2 CRAT CRB1 CREBBP CRPPA CRX CSF1R CSPP1 CTBP1 CTNNA2 CTSD CTSF CTSK CUL4B CUX2 CWC27 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP27A1 CYP7B1 DAB1 DACT1 DAG1 DARS2 DCC DCHS1 DCLRE1B DDX3X DEGS1 DENND5A DHCR7 DHDDS DHFR DHX30 DHX37 DISC1 DISP1 DKC1 DKK1 DLG4 DLL1 DMXL2 DNAJC3 DNAJC30 DNAJC5 DNM1L DNMT1 DNMT3A DOCK6 DOCK7 DOHH DOK7 DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPYSL5 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP EEF2 EHMT1 EIF4H ELN ELOVL4 ELOVL5 EMC1 EN1 EOMES EP300 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 ERF ERLIN1 ERMARD ESCO2 ESPN EVC EVC2 EXOC2 EXOC7 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EZH2 FA2H FAM149B1 FANCB FANCI FANCL FAR1 FARS2 FAT2 FAT4 FBN1 FBXL4 FCSK FDXR FGF12 FGF14 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FKBP6 FKRP FKTN FLI1 FLNA FLVCR2 FMR1 FOXC1 FOXF1 FOXH1 FOXRED1 FRMD4A FRRS1L FTL FTO FUS FUZ GAD1 GALC GAN GAS1 GBA2 GDAP2 GDF6 GEMIN4 GEMIN5 GFAP GFM2 GJA1 GJB1 GJB2 GJB6 GLI2 GLI3 GLS GMPPB GNAO1 GNAQ GNS GON7 GOT2 GPAA1 GPC3 GPC4 GPHN GPKOW GPSM2 GPX4 GRIA2 GRIA3 GRID2 GRIK2 GRIN1 GRM1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCY2D H3-3A HDAC4 HDAC6 HDAC8 HEPACAM HERC1 HES7 HESX1 HEXB HHAT HK1 HLA-DQB1 HMGA2 HNRNPH1 HNRNPH2 HNRNPR HRAS HSD17B4 HTT HYCC1 HYLS1 IBA57 IDH1 IER3IP1 IFIH1 IFRD1 IFT140 IFT172 IFT74 IFT80 IGF2 IL11RA IMPDH1 INPP5E INPP5K INTS1 INTS8 IQCB1 IRF2BPL ITPR1 JAM2 JAM3 KANSL1 KARS1 KAT5 KATNB1 KATNIP KCNA1 KCNC1 KCNC3 KCND3 KCNJ10 KCNJ13 KCNMA1 KCNQ1 KCNQ1OT1 KCTD7 KDM1A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF1A KIF1C KIF21A KIF5A KIF7 KLLN KMT2C KNL1 KPNA3 KRAS KY L1CAM L2HGDH LAGE3 LAMA1 LAMA2 LAMB1 LARGE1 LCA5 LEMD3 LETM1 LHX3 LHX4 LIG3 LIMK1 LIPT1 LMNB1 LMX1B LNPK LONP1 LRAT LRPPRC LRRC32 LYRM7 LYST MAB21L1 MACF1 MAF MAG MAN1B1 MAN2B1 MAN2C1 MAP2K2 MAP3K7 MAPK8IP3 MAPKAPK5 MARS2 MAST1 MBD5 MBTPS2 MCOLN1 MDH1 MDH2 MECR MED11 MED12 MED23 MED27 MEF2C METTL27 MFF MFSD2A MFSD8 MGAT2 MGME1 MICOS13 MICU1 MID1 MINPP1 MKS1 MLXIPL MME MORC2 MPL MPLKIP MRE11 MRM2 MRPS34 MSTO1 MT-ATP6 MT-ATP8 MT-CYB MT-TE MT-TK MT-TL1 MTHFR MTHFS MTM1 MUSK MVK MYH3 MYMK MYMX MYO5A MYO7A MYOD1 NADK2 NAGA NALCN NARS2 NAXE NCAPG2 NCF1 NDE1 NDP NDUFA1 NDUFA13 NDUFA6 NDUFA8 NDUFA9 NDUFAF4 NDUFS1 NDUFS4 NEK1 NELFA NEUROD2 NF2 NFASC NFIA NFIX NFKB2 NGLY1 NIPBL NKX6-2 NMNAT1 NODAL NONO NOP56 NOTCH2 NOTCH2NLC NOTCH3 NOVA2 NPHP1 NPHP3 NPTX1 NRAS NSD1 NSD2 NSRP1 NUBPL NUP133 NUP214 NUP37 NUP88 OCLN ODC1 OFD1 OPA1 OPA3 OPHN1 OSGEP OTUD5 OTX2 OXR1 PACS1 PACS2 PAFAH1B1 PARN PAX2 PCDH15 PCGF2 PCLO PCNA PCYT1A PDCD6IP PDE6D PDGFB PDGFRB PDHA1 PDHB PDHX PDYN PDZD7 PEX10 PEX16 PEX2 PEX6 PGAP1 PGAP2 PHEX PHGDH PI4KA PIBF1 PIEZO2 PIGA PIGG PIGK PIGN PIGP PIGQ PIGS PIGT PIGU PIK3CA PIK3R5 PITRM1 PLA2G6 PLAA PLCH1 PLD3 PLG PLK4 PLP1 PMM2 PMPCA PMPCB PNKP PNPLA6 PNPT1 POGZ POLA1 POLG POLG2 POLR1C POLR3A POLR3B POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 POU4F1 PPFIBP1 PPIL1 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R2B PRDM13 PRDX3 PRKCG PRKDC PRNP PROKR2 PROP1 PRRT2 PRRX1 PRUNE1 PSAT1 PTCH1 PTEN PTF1A PTH1R PTRH2 PUM1 QARS1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAPSN RARS2 RBBP8 RBL2 RBM10 RBM8A RD3 RDH12 RECQL4 RELN REPS1 RERE RFC1 RFC2 RFWD3 RFX7 RHOBTB2 RNASEH1 RNASEH2A RNF113A RNF13 RNF170 RNF216 RNU12 RNU4ATAC ROBO1 ROBO3 ROGDI RORA RPE65 RPGRIP1 RPGRIP1L RPL10 RPS6KA3 RRAS2 RRM2B RTEL1 RTTN RUBCN RXYLT1 SACS SALL1 SAMD9L SASS6 SC5D SCARB2 SCN1A SCN1B SCN2A SCN8A SCO2 SCYL1 SDHA SDHB SDHC SDHD SEC23B SEMA3E SEMA6B SEPSECS SERAC1 SETBP1 SETD2 SETX SF3B2 SH2B1 SH3TC2 SHANK3 SHH SHQ1 SIGMAR1 SIK1 SIK3 SIL1 SIX3 SKI SLC13A3 SLC18A3 SLC1A3 SLC20A2 SLC25A1 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC31A1 SLC32A1 SLC33A1 SLC35A2 SLC35B2 SLC39A14 SLC39A8 SLC44A1 SLC52A3 SLC5A6 SLC9A1 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMPD1 SMPD4 SNORD118 SNX14 SOD1 SON SOX11 SOX2 SOX3 SOX4 SPART SPATA7 SPG11 SPG21 SPG7 SPRED1 SPTAN1 SPTBN2 SPTLC1 SQSTM1 SRD5A3 SRPX2 STAG1 STAG2 STAT2 STIL STT3A STT3B STUB1 STX1A STXBP1 SUFU SUMF1 SUOX SYNE1 SYT14 SYT2 TAF1 TAOK1 TAPT1 TARS1 TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBCD TBCE TBCK TBL1XR1 TBL2 TBP TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TECPR2 TERC TERT TFAP2A TGFBR1 TGFBR2 TGIF1 TGM6 THG1L THOC2 TINF2 TK2 TKFC TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM240 TMEM270 TMEM67 TMEM94 TMTC3 TMX2 TNPO2 TOE1 TOGARAM1 TONSL TOP3A TOPORS TOR1A TP53RK TPP1 TRAF7 TRAPPC11 TRAPPC12 TRAPPC4 TRAPPC6B TRAPPC9 TREX1 TRIM8 TRIP13 TRMT1 TRMT10A TRPC3 TRPM3 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTBK2 TTC19 TTPA TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP4 TUBGCP6 TULP1 TWIST1 TWNK TXN2 TXNDC15 UBA5 UBE2A UBE3C UBTF UCHL1 UFC1 UFM1 UFSP2 USF3 USH1C USH1G USH2A USP18 USP45 USP8 USP9X VAC14 VANGL1 VANGL2 VARS1 VARS2 VHL VLDLR VPS11 VPS13B VPS13D VPS35L VPS37D VPS41 VPS4A VPS50 VPS51 VPS53 VRK1 VWA3B WAC WARS2 WASHC5 WDR26 WDR35 WDR37 WDR4 WDR45 WDR73 WDR81 WHRN WLS WNT1 WWOX XRCC1 XRCC4 YIF1B YME1L1 YRDC ZBTB11 ZEB2 ZFYVE26 ZIC1 ZIC2 ZIC3 ZMIZ1 ZNF292 ZNF335 ZNF423 ZNF592 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_MIDBRAIN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDBRAIN_MORPHOLOGY ADH1C AHI1 ARL13B ARL3 ARMC9 ATP7B ATXN2 ATXN3 ATXN8OS B9D1 B9D2 BRF1 C2CD3 CC2D2A CDON CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 DISP1 DLL1 EXOC2 FAM149B1 FBXO7 FGF8 FOXH1 FTL GALC GAS1 GBA1 GCH1 GLI2 GLUD2 GTPBP2 IFT74 IMPDH2 INPP5E KIAA0586 KIAA0753 KIF7 LRRK2 MAPT MKS1 MT-TT NODAL NPHP1 NR4A2 OFD1 PDE6D PIBF1 PRKN PTCH1 RPGRIP1L SHH SIX3 SLC35A2 SLC44A1 SNCA SNCAIP SPG11 STIL SUFU TBCE TBP TCTN1 TCTN3 TDGF1 TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS VPS41 WDR45 ZIC2 ZNF423 HP_ABNORMAL_MIDDLE_EAR_REFLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDDLE_EAR_REFLEXES AIFM1 DIAPH3 MPDU1 OTOF PRORP HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND ATP6V1B2 BHLHA9 BMP2 BMP4 BMPR1B CEP152 CHSY1 COL10A1 COL2A1 DOCK6 DVL1 EIF2AK3 FGFR1 FGFR2 FGFR3 FIG4 GATA1 GDF5 GJA1 GMNN GNB2 HOXA13 HOXD13 IFT140 IFT57 IGF2 IHH INTU KDM6A KMT2A KMT2D KNSTRN LMNA MBD5 MECOM MEGF8 MIR17HG MYCN NEPRO NFIX NIN NOG NONO NPR3 NSDHL PCNT PDE4D PHF6 PIK3CD POLA1 PQBP1 PTDSS1 PTH1R PUF60 RAB23 RBBP8 ROR2 RUNX2 SLC26A2 SRCAP TFAP2B TRPS1 TRPV4 VAC14 WNT5A HP_ABNORMAL_MIDFACE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDFACE_MORPHOLOGY ACAN ACP5 ACSL4 ACTB ACTG1 ADAMTSL4 ADNP AEBP1 AFF4 AGL AIFM1 AIP ALG12 ALX1 ALX3 AMMECR1 AMPD2 ANK1 ANKRD11 ANKRD17 ANTXR1 APC ARID1B ARVCF ASPH ASXL1 ASXL3 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BANF1 BAZ1B BBS7 BCL11A BCL7B BCOR BCR BGN BICD2 BICRA BLM BMP2 BMP4 BPTF BRAF BRF1 BUB1B BUD23 CA2 CAMK2B CANT1 CASZ1 CAV1 CBL CC2D2A CCBE1 CCDC22 CCDC47 CCDC8 CCDC88A CDC42 CDC42BPB CDH11 CDK19 CDK5 CDKN1C CEP120 CEP290 CHD1 CHD3 CHD7 CHN1 CHST3 CILK1 CITED2 CLCF1 CLCN3 CLCN4 CLIP2 CNOT1 CNOT3 COG1 COG4 COL11A1 COL11A2 COL18A1 COL1A1 COL27A1 COL2A1 COL5A1 COL9A1 COL9A2 COL9A3 COMT COX15 COX7B CPE CPLX1 CREBBP CRKL CRLF1 CRTAP CSGALNACT1 CSPP1 CTBP1 CTCF CTDP1 CTNND2 CTSK CUL7 CYP26C1 DACT1 DCHS1 DDB1 DDR2 DDX3X DEAF1 DHODH DHX37 DICER1 DLG3 DLK1 DLX4 DNAJC30 DNMT3B DPH5 DPM1 DPYD DPYSL5 DSE DTYMK DVL1 DVL3 EBP EDN1 EDNRA EEF1A2 EFEMP2 EFTUD2 EHMT1 EIF2AK3 EIF2S3 EIF4H ELMO2 ELN EP300 EPB41L1 ERF ESCO2 EXT2 EXTL3 EYA1 FAM20C FAM50A FAT4 FBLN5 FBN1 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FKBP6 FLII FLNA FLNB FLT4 FN1 FOXC1 FOXG1 FOXP1 FZD2 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF11 GHR GJA5 GJA8 GLI2 GMNN GNAI3 GNAS GNB2 GNPAT GORAB GP1BB GPC3 GPC4 GPC6 GPR101 GRIA3 GRIA4 GRIN1 GSC GTF2I GTF2IRD1 GTF2IRD2 H1-4 H19 H3-3A H3-3B H4C3 H4C5 H4C9 HBA1 HBA2 HBB HCCS HDAC4 HDAC8 HEATR3 HECW2 HEPACAM HERC1 HESX1 HIRA HK1 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXB1 HRAS HS6ST2 HSPA9 HSPG2 IARS1 IARS2 IDS IDUA IER3IP1 IFT122 IFT140 IFT52 IFT81 IGF2 IL11RA INPPL1 INTS1 IPO8 IQSEC2 IREB2 IRX5 ITCH JAG1 JARID2 JMJD1C KAT6A KAT6B KCNAB2 KCNE5 KCNH1 KCNJ2 KCNQ1 KCNQ1OT1 KDM6A KDM6B KDR KIDINS220 KIF11 KIF15 KIF1A KIF22 KIF7 KLHL7 KMT2B KMT2C KMT2D KMT2E KRAS LARP7 LARS1 LAS1L LBR LEMD2 LETM1 LHX3 LHX4 LIFR LIMK1 LINS1 LMNA LMX1B LRP1 LRP2 LRP4 LRP5 LRPPRC LRRC32 LTBP1 LTBP3 LTBP4 LUZP1 LZTR1 MAD1L1 MAF MAFB MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MBD5 MECP2 MED12 MED13L MEG3 MEGF8 MESD METTL27 MGP MID1 MIPEP MIR140 MITF MKS1 MLXIPL MMP23B MN1 MOCS1 MOCS2 MRAS MRPS14 MSL3 MTHFS MTOR MYH3 MYSM1 NAA10 NALCN NBAS NBN NCF1 NDP NDUFB11 NECTIN1 NEK9 NEPRO NF1 NFIX NGF NGLY1 NKAP NKX2-5 NKX2-6 NONO NOTCH2 NOTCH3 NPHP3 NPR3 NRAS NSD2 NSDHL NSMCE2 NSMCE3 NTRK1 NXN OBSL1 OCRL ODC1 OFD1 OSGEP OTUD5 P4HB PAK2 PAX1 PAX3 PCGF2 PCLO PCNT PDE4D PDGFRB PDPN PDZD8 PEPD PEX1 PEX12 PEX7 PIGA PIGB PIGN PIGQ PIGS PIGT PIGU PIGV PIK3CA PIK3R1 PITX2 PKD2 PLCB4 PLOD3 PLP1 POGZ POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POP1 POR POU1F1 PPP1CB PPP1R15B PPP2R5D PQBP1 PRDM16 PRKACA PRKAR1A PRKCZ PRMT7 PROP1 PRR12 PSMC1 PSMC3 PSMD12 PSPH PTCH1 PTEN PTH1R PTPN11 PTRH2 PUF60 PURA PYCR1 PYCR2 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAF1 RAI1 RASA2 RBM8A RDH11 RERE RFC2 RFWD3 RFX7 RHOA RIT1 RLIM RNF13 RNU12 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPS26 RPS28 RRAS RRAS2 RREB1 RSPRY1 RTL1 RUNX2 RYR1 SALL1 SALL4 SATB1 SATB2 SC5D SCARF2 SEC23A SEC24C SEC24D SEMA3E SEMA5A SERPINH1 SETBP1 SETD1A SETD1B SETD2 SF3B2 SF3B4 SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SIM1 SIX1 SIX3 SIX5 SKI SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35A2 SLC35D1 SLC37A4 SLC6A8 SLC9A7 SMAD2 SMAD3 SMAD4 SMARCA2 SMC1A SMCHD1 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOST SOX11 SOX9 SP7 SPART SPECC1L SPEN SPRED2 SPTBN1 STAC3 STAG2 STRADA STX16 STX1A STXBP1 SVBP SYK TAFAZZIN TASP1 TAT TBCE TBL1XR1 TBL2 TBX1 TBX22 TBX4 TCF12 TCF20 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TECPR2 TFAP2A TFAP2B TFE3 TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMCO1 TMEM107 TMEM165 TMEM216 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TONSL TP63 TRIO TRMT10A TRPM3 TSEN54 TSR2 TUBB4A TUBGCP2 TWIST1 TWIST2 TXNDC15 TXNL4A UBE2A UBE3B UBE4B UFC1 UFD1 USB1 VPS13B VPS33A VPS35L VPS37D WAC WASF1 WASHC5 WBP11 WDR19 WDR26 WDR35 WDR73 WLS WNT5A XRCC4 XYLT2 YARS1 YME1L1 YY1 ZBTB20 ZFPM2 ZIC1 ZMIZ1 ZNF407 ZNF462 ZNF668 ZNHIT3 ZPR1 HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY CHCHD10 CHKB DNA2 FDXR FH FUS GGPS1 GYG1 HSD17B10 LYRM4 MFF MGME1 MRPS14 MYH14 PET117 SFXN4 SLC25A3 SPG7 SQSTM1 SUCLG1 TAFAZZIN TARDBP TBK1 TMEM126B VCP HP_ABNORMAL_MITOCHONDRIAL_NUMBER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_NUMBER CHCHD10 DNA2 GYG1 MGME1 PET117 SFXN4 HP_ABNORMAL_MITOCHONDRIAL_SHAPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_SHAPE CHKB FDXR FH GGPS1 LYRM4 MFF MYH14 SLC25A3 SUCLG1 TMEM126B HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE AFG3L2 FOXRED1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MYH7 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL SDHA TIMMDC1 TMEM126B HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY ABCC6 ABCG5 ABCG8 ACTC1 ADAMTS10 ADAMTSL2 ADNP AGA AIP AKT3 ALDH18A1 ALPK3 ANKRD11 APOB ARSB B3GALT6 BAG3 BANF1 BAZ1B BCL7B BUD23 C4A CBL CCND2 CCR1 CHST14 CHST3 CITED2 CLIC2 CLIP2 COL1A1 COL1A2 COL5A1 COL5A2 COX7B CRYAB CTCF DCHS1 DNAJC30 DNMT3A DOHH DSE DTNA DZIP1 EIF4H ELN ERAP1 EXOSC5 FAR1 FAS FBLN5 FBN1 FBN2 FHL1 FHOD3 FKBP14 FKBP6 FLNA FLNC G6PC3 GATA4 GATA6 GBA1 GJA1 GLA GLB1 GNPTAB GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 HAAO HADHA HADHB HCCS HEPHL1 HEXB HLA-B IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST IRX5 KIF20A KLHL24 KLRC4 LDLR LDLRAP1 LIMK1 LMNA LMOD2 LOX LRPPRC LTBP2 LTBP3 LZTR1 MAN2B1 MAP3K7 MAPK1 MCTP2 MEFV METTL27 MLXIPL MTX2 MYH6 MYH7 MYL2 MYPN NCF1 NDUFB11 NF1 NKAP NKX2-5 NOTCH1 NOTCH2 PCSK9 PDSS1 PEX2 PIK3R2 PKD1 PLD1 POLG PPP1CB PRDM16 PRG4 PYROXD1 RAF1 RFC2 RIT1 RPL3L RPL5 RPS6KA3 RSPRY1 SDHD SGO1 SKI SLC22A5 SMAD3 SMAD4 SMAD6 SOX5 SPEG STAT4 STX1A SYT2 TBL2 TBX20 TGFB3 THSD1 TLL1 TLR4 TLR7 TMEM270 TNNI3 TNNT2 TPM1 TWNK TXNDC15 UBAC2 UBE2A VPS33A VPS37D XYLT1 XYLT2 ZIC3 ZMPSTE24 ZNF148 HP_ABNORMAL_MONOCYTE_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MONOCYTE_COUNT CARD11 CLPB DDX41 ELANE G6PC3 GATA2 GFI1 IKBKB IRF8 KRAS NRAS PIK3CD PIK3CG RAC2 SRP19 SRP54 TCIRG1 WAS ZNFX1 HP_ABNORMAL_MORPHOLOGY_OF_BONY_ORBIT_OF_SKULL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_BONY_ORBIT_OF_SKULL ADAMTS10 ALG9 CACNA1C ESCO2 FBN1 FGFR1 FGFR2 FLNB GNPTAB HERC1 HNRNPK HYMAI INPPL1 KCNJ6 LEMD2 LMNA MAF MITF MTX2 NFIX P4HB PDGFRB PLAGL1 PLOD3 POLA1 PTCH1 SERPINH1 SETBP1 SHPK SIN3A SKI TWIST1 ZMPSTE24 HP_ABNORMAL_MORPHOLOGY_OF_MUSCULATURE_OF_PHARYNX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_MUSCULATURE_OF_PHARYNX GIPC1 LRP12 MATR3 NOTCH2NLC PLP1 RILPL1 HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE ACTC1 ACTN2 CALM2 COA6 DTNA HCN4 JUP LDB3 MIB1 MIPEP MYBPC3 MYH7 NONO NPPA PRDM16 SCN5A SDHA SDHD TNNT2 VARS2 HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE ACTG2 ATP7A B3GLCT BRAF CANT1 CBL CD96 CDKN1C CHAMP1 CHRM3 CHRNG CHST14 COL3A1 COLEC10 COLEC11 CSGALNACT1 DIS3L2 DLK1 ELMO2 EZH2 FBN1 FLNB FOXF1 GNPTAB GPC3 GPC4 GUSB H19 IGF2 KCNQ1 KCNQ1OT1 KRAS LZTR1 MANBA MASP1 MCOLN1 MEG3 MRAS MTOR MYH3 NRAS PIGQ PORCN PPP2R3C PTPN11 RAF1 RASA2 RIT1 RMRP RRAS RRAS2 RTL1 SHPK SKI SLC25A24 SOS1 SOS2 SOX6 SPRED2 TBCK XYLT1 HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE ABCC6 AGXT APOE C1QTNF5 CCM2 CFH CFHR1 CFHR3 CFI CLCN2 CLEC3B EFEMP1 ENPP1 FBLN1 FBLN5 FBN2 GNAQ HLA-A HMCN1 KRIT1 MAPKAPK3 PDCD10 PIK3CA PRPH2 TIMP3 XYLT1 XYLT2 HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE ACVRL1 ANO10 ATM CTSA DDB2 ENG ERCC2 ERCC3 ERCC4 ERCC5 FUCA1 GDF2 GLA GNAQ LIG1 MANBA MASP1 NAGA NBN PCNA PEX6 RNF168 SASH1 SETX SMAD4 XPA XPC HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS AASS ABCC6 ABCC9 ABCD4 ABCG5 ABCG8 ABL1 ACSL4 ACTA2 ACTB ACVR2B ADA2 ADAMTS10 ADAMTS19 ADAR ADAT3 ADH5 ADK AEBP1 AFF4 AGGF1 AGO2 ALB ALDH18A1 ALDH1A2 ALG12 ALG3 ALG5 ALG8 ALG9 ALX1 ALX3 AMER1 AMMECR1 ANGPTL6 ANK1 ANKS6 APC2 APOB APOE ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL6IP6 ARSL ARVCF ARX ASCC1 ASXL2 ATN1 ATP2B1 ATP6V1A ATP6V1B2 B3GALT6 B3GAT3 B3GLCT BAP1 BAZ1B BCL11B BCL7B BCOR BCR BGN BICC1 BICRA BMP2 BMPR1A BMPR2 BPTF BRAF BRCA1 BRCA2 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12orf57 C2CD3 CACNA1C CADM3 CALM3 CARS1 CASZ1 CBL CCDC103 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CCNQ CD96 CDC42 CDC42BPB CDH2 CDK8 CDON CEP120 CEP57 CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CHD4 CHD7 CHRM3 CHRNG CHST3 CHUK CIROP CITED2 CLCN7 CLIP2 CNTN1 COA6 COG6 COL18A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COMT COQ4 COX7B CPLANE1 CREBBP CRELD1 CRKL CRTAP CSGALNACT1 CTCF CTU2 CUX1 CWC27 CXCR2 CXCR4 CYP7A1 DACT1 DDX11 DDX3X DDX59 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLL4 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC30 DNAL1 DNMT3A DOCK6 DOHH DPF2 DPH5 DPM1 DPYSL5 DRC1 DTNA DVL3 DYNC2LI1 DYRK1A ECE1 EED EFEMP2 EGFR EHMT1 EIF2AK3 EIF2AK4 EIF4H ELN EMILIN1 ENG ENPP1 EOGT EP300 ERCC4 ERCC6 ERCC8 ERMARD ESCO2 ESS2 EXT2 EZH2 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBN2 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FKBP14 FKBP6 FKTN FLI1 FLNA FLNB FLT4 FMR1 FOCAD FOXC1 FOXC2 FOXE3 FOXF1 FOXH1 FOXJ1 FOXP2 FRA10AC1 FTO FUT8 G6PC3 GABRD GANAB GAS1 GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GBA1 GDF1 GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLYCTK GNA11 GNB2 GNPAT GP1BB GPC3 GPC4 GPC6 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HCCS HDAC4 HEATR3 HES7 HEY2 HGD HIBCH HIRA HLA-B HLA-DRB1 HNRNPK HPGD HRAS HSPG2 HTRA2 HYDIN HYMAI IDS IFIH1 IFNG IFT140 IFT27 IFT43 IGBP1 IGF2 IL12B INTU IPO8 ITPR1 JAG1 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNN3 KCNQ2 KCNT1 KDM3B KDM6A KDR KMT2A KMT2B KMT2D KRAS KYNU LARS2 LDLR LDLRAP1 LFNG LIFR LIMK1 LMBRD1 LMNA LMX1B LOX LRPPRC LRRC56 LSM11 LTBP1 LTBP4 LUZP1 LZTR1 MAD2L2 MAF MAP1B MAP2K1 MAP3K7 MAPK1 MAPKAPK5 MASP1 MAT2A MCIDAS MCTP2 MED11 MED12 MED13L MED25 MEG3 MEGF8 MEIS2 MESP2 METTL27 MFAP5 MGAT2 MGP MID1 MKKS MKS1 MLX MLXIPL MMP14 MMP2 MMP21 MMP23B MRAS MRPS16 MYCN MYH11 MYH3 MYH7 MYLK MYOCD MYPN MYRF NAA10 NAA20 NADSYN1 NAE1 NCAPG2 NCF1 NDUFB11 NEDD4L NEK10 NEK8 NEK9 NF1 NFIX NIPA1 NIPA2 NKAP NKX2-5 NKX2-6 NME5 NME8 NOD2 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPHP3 NPR3 NR2F2 NRAS NSD1 NSMCE2 NXN OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OSGEP OTUD5 P4HA2 PACS1 PAH PAK2 PALB2 PCGF2 PCNT PCSK9 PDPN PEX1 PEX19 PGM1 PGM3 PHGDH PIGA PIGL PIGN PIGO PIGT PIK3R2 PKD1 PKD1L1 PKD2 PLAGL1 PLCB1 PLCB3 PLCH1 PLD1 PLOD1 PLXND1 POGZ POLA1 POLR1A POLR1B POLR1C POLR1D PORCN PPFIBP1 PPP1CB PPP2R1A PQBP1 PRDM13 PRDM16 PRDM6 PRIM1 PRKACB PRKCD PRKCZ PRKG1 PSMD12 PTCH1 PTEN PTH1R PTPN11 PTPN22 PUF60 QRICH1 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RBM10 RBM8A RBP4 RBPJ RERE RFC2 RFWD3 RIN2 RIPPLY2 RIT1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 ROBO1 ROBO4 ROR2 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTL1 SALL1 SALL4 SAMD9 SAMHD1 SCN1A SCN2A SEC24C SEMA3E SETD2 SF3B2 SF3B4 SFTPB SH3PXD2B SHANK3 SHH SIK3 SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A5 SLC25A22 SLC25A24 SLC29A3 SLC2A10 SLC34A2 SLC35A2 SLC37A4 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMOC1 SNRPB SNRPN SNX10 SNX14 SON SOS1 SOS2 SOX11 SOX2 SOX4 SPAG1 SPECC1L SPEF2 SPEN SPRED2 SPTBN1 SRCAP SRY SSR4 STAG2 STIL STK36 STRA6 STX1A STXBP1 SUCLG1 SUFU SUPT16H TAB2 TALDO1 TAOK1 TBC1D24 TBL2 TBX1 TBX2 TBX20 TBX4 TBX5 TCIRG1 TCOF1 TDGF1 TELO2 TFAP2B TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TGIF1 THOC6 THSD1 THSD4 TKT TLL1 TMCO1 TMEM260 TMEM270 TMEM94 TMTC3 TNFSF11 TNNT2 TP63 TPM2 TPM3 TRAF7 TRAIP TREX1 TRIO TRIP11 TRIP13 TRIP4 TRPV6 TRRAP TSC1 TSC2 TSFM TSR2 TTC12 TTC26 TUBG1 TWIST1 UBE2A UBE2T UBE3B UBE4B UBR7 UFC1 UFD1 UMPS UNC45B UQCRFS1 USP18 USP9X VAC14 VPS33A VPS35L VPS37D WAC WASHC5 WDPCP WDR26 WDR35 WDR37 WLS WNT4 WRN WT1 XRCC2 YY1 YY1AP1 ZBTB7A ZEB2 ZFPM2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF462 ZNF699 HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM ABCA7 ATP1A3 BICRA CAMTA1 CARS2 CEP85L CLCN3 CNPY3 CNTN2 CPA6 CPLX1 DCC DNAL4 DPYSL5 EML1 FGFR2 GABRA1 GABRG2 GRIN1 GRM7 KDM4B MACF1 MTHFD1 NDE1 NEK1 NR2F1 NTN1 OSTM1 PCDH19 POU4F1 RAD51 RNU4ATAC SCN1A SCN1B SCN2A SCN9A SLC35A2 SLITRK2 STAMBP TBC1D24 TCF4 TUBA1A TUBB3 VAX1 VPS13A VPS51 ZEB2 HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK ACTA1 ALG9 ALS2 ANO3 ATP13A2 ATP1A3 B3GALT6 CACNA1A CDK10 CEP85L CIZ1 CNP COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COLEC11 COX20 CP DDC DRD2 FLI1 FOXP2 FUS GCH1 GDAP2 GDF3 GDF6 GNAL GRIK2 HK1 HPCA IMPDH2 ITGA7 KCNC3 KCNN2 KCTD17 KIF1C KIF21A KMT2B MAPT MEOX1 MYF5 NAA10 NAXE NEK9 NKX6-2 NR4A2 PCGF2 PHOX2A PNKD PPP2R5D PRDX3 PRKAR1B PRKRA PRRT2 RNF170 ROBO3 SCP2 SGCE SIGMAR1 SOX10 SPG11 SPTBN1 SPTLC1 SUPT16H SYNGAP1 TBP TGFB2 TGM6 THAP1 TMEM151A TOR1A TRPM3 TRPV4 TUBA1A TUBB2B TUBB3 TUBB4A VPS11 VPS13D VPS16 ZNF142 HP_ABNORMAL_MORPHOLOGY_OF_THE_NASAL_ALAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_NASAL_ALAE ABCA4 ABCA5 ABCC8 ABCC9 ACSL4 ACTB ACTG2 ADAMTS3 ADAMTSL2 ADGRG6 ADNP ADSL AFF4 AGA AGBL5 AHI1 AHR AIFM1 AIMP2 AKT1 ALDH6A1 ALG13 ALG9 ALX1 ALX4 AMMECR1 ANKRD11 ANKRD17 ANTXR1 AP2M1 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSL ARX ASH1L ASXL1 ASXL3 ATAD3A ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX AUTS2 B3GALT6 B3GLCT B9D1 B9D2 BAP1 BBS1 BBS2 BCL11A BCR BEST1 BICRA BLTP1 BMP2 BRAF BRCA1 BRCC3 BRD4 BRF1 BUB1B CA4 CACNA1B CAMTA1 CANT1 CASK CBL CBY1 CC2D2A CCDC8 CCNK CD96 CDC42 CDC42BPB CDH11 CDHR1 CDKL5 CDON CENPJ CEP104 CEP120 CEP290 CEP41 CEP55 CERKL CERT1 CFAP418 CHD2 CHMP1A CHN1 CKAP2L CLCF1 CLP1 CLRN1 CNGA1 CNGB1 CNOT2 CNOT3 COG1 COL11A1 COL11A2 COL27A1 COL2A1 COL3A1 CPLANE1 CPSF3 CRB1 CREBBP CRIPT CRKL CRLF1 CRX CSGALNACT1 CSNK2A1 CSPP1 CTCF CTNNB1 CUL7 CWC27 DDB1 DDB2 DDR2 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHX37 DHX38 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DMXL2 DNMT3A DNMT3B DOCK3 DOCK7 DPF2 DPYD DVL1 DVL3 DYNC1I2 DYRK1A EBF3 ECEL1 EDA EDEM3 EDN3 EDNRB EFTUD2 EHMT1 EIF5A ELN ERCC2 ERCC3 ERCC4 ERCC5 ERF ESCO2 ESS2 EXOSC1 EXOSC2 EXT1 EXT2 EXTL3 EYA1 EYS FAM149B1 FAM161A FAM20C FBN1 FBXO31 FGD1 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FLI1 FLII FLNB FOXH1 FRAS1 FREM2 FRMD4A FSCN2 FTO FZD2 GAD1 GAS1 GBA1 GDF11 GJA1 GJA5 GJA8 GLI2 GLI3 GLUL GMNN GNAI1 GNAO1 GNPAT GNPTAB GNS GPAA1 GPC3 GPC4 GPC6 GRIN1 GRIP1 GRM7 GUCA1B H3-3A H4C5 HDAC4 HDAC8 HECW2 HES7 HGSNAT HIC1 HIVEP2 HK1 HNRNPH2 HNRNPK HOXB1 HPDL HRAS HYLS1 IARS2 IDH3A IDH3B IDUA IER3IP1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT74 IFT88 IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR IQSEC2 IRX5 KANSL1 KATNB1 KATNIP KCNA1 KCNE5 KCNH1 KCNJ11 KCNJ6 KCNJ8 KCTD1 KDM1A KDM4B KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF15 KIF1A KIZ KLHL15 KLHL7 KMT2D KNSTRN KRAS LFNG LIFR LMBR1 LMBRD2 LONP1 LRAT LRPPRC LTBP3 MAB21L1 MADD MAFB MAK MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MARS2 MECP2 MED12 MED12L MED25 MED27 MEF2C MEG3 MEGF8 MERTK MESP2 METTL23 MGP MICU1 MID1 MIPEP MITF MKS1 MLXIPL MN1 MPLKIP MSL3 MTX2 MVK MYCN MYH3 MYMK MYMX MYO18B NAA10 NALCN NARS2 NEDD4L NEK2 NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NGLY1 NIPBL NODAL NOG NOTCH2 NOVA2 NPHP1 NR2E3 NR2F1 NRAS NRL NSD1 NSRP1 NSUN2 NXN OBSL1 OCLN OFD1 ORC4 PAFAH1B1 PAH PAICS PAK3 PAM16 PARS2 PAX1 PAX3 PBX1 PCARE PCNT PDE4D PDE6A PDE6B PDE6D PDE6G PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF21A PHIP PIBF1 PIEZO2 PIGA PIGF PIGN PIGP PIGQ PIGT PIGY PIK3C2A PIK3CD PIK3R1 PLCB3 PLCH1 PLEC PLK4 PLOD3 PMM2 PNKP POLG2 POLR3A POLRMT POMGNT1 PORCN POU1F1 POU4F1 PPM1D PPP1CB PPP1R15B PPP1R21 PPP2R1A PPP2R3C PRCD PRKAR1A PRKD1 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PTCH1 PTEN PTH1R PTPRF PUF60 PURA PUS7 PYCR1 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAI1 RALA RALGAPA1 RBM10 RBM8A RBP3 RDH11 RDH12 RECQL RECQL4 REEP6 RERE RGR RHO RHOA RHOBTB2 RIC1 RIPK4 RIPPLY2 RLBP1 RMRP RNF125 RNF2 RNU4ATAC ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPS6KA3 RTL1 SAG SALL4 SATB2 SC5D SCAPER SCARF2 SCN1A SCN1B SCN2A SCNM1 SEC23A SEMA4A SETBP1 SETD1A SETD5 SH3PXD2B SHH SHOC2 SIK1 SIM1 SIN3A SIX3 SKI SKIC3 SLC17A5 SLC25A22 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC32A1 SLC37A4 SLC6A1 SLC6A9 SLC7A14 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMOC1 SMS SNRNP200 SNRPN SNX14 SOX10 SOX11 SOX4 SPATA5 SPATA7 SPECC1L SPEN SPOP SPTBN1 SRCAP SUFU SUMF1 SYNGAP1 TAF1 TAF6 TAPT1 TBC1D20 TBC1D24 TBCK TBX1 TBX6 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMCO1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM53 TMEM67 TMEM70 TMEM94 TMLHE TOGARAM1 TONSL TOPORS TOR1A TP63 TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRPM3 TRPS1 TRPV6 TRRAP TTC26 TTC8 TUB TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNDC15 TXNL4A UBE2A UBE3B UBR1 UFC1 UNC80 USB1 USH2A USP9X VAC14 VPS35L VPS51 WDR19 WDR26 WDR35 WDR4 WLS WNT5A WWOX XPA XPC XYLT1 YWHAE ZBTB20 ZBTB24 ZC4H2 ZIC2 ZMYM2 ZNF292 ZNF408 ZNF423 ZNF462 ZNF513 ZNF699 ZNHIT3 ZSWIM6 HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB CDON CILK1 COL25A1 DISP1 DLL1 ERBB3 FGF8 FGFR1 FOXH1 FOXP2 GAS1 GLI2 GSX2 KIAA0586 KIF21A NODAL PHOX2A PLCH1 POU3F3 PROK2 PROKR2 PTCH1 SEMA3A SHH SIX3 SMC1A SMCHD1 STAG2 STIL TDGF1 TGIF1 TUBA1A TUBB2B TUBB3 ZIC2 ZSWIM6 HP_ABNORMAL_MORPHOLOGY_OF_THE_PROXIMAL_PHALANX_OF_THE_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_PROXIMAL_PHALANX_OF_THE_HALLUX FGFR1 FGFR2 FIG4 IHH RAB23 VAC14 HP_ABNORMAL_MORPHOLOGY_OF_ULNA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_ULNA AGA ANAPC1 APC B2M B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BGN BHLHA9 BICRA BMPR1B BRAF BRCA1 BRCA2 BRD4 BRIP1 BUD23 CANT1 CBL CCDC8 CHD7 CHST3 CHSY1 CLIP2 COL10A1 COL11A1 COL2A1 COLEC10 COLEC11 COMP CPLX1 CSGALNACT1 CTBP1 CUL7 DHODH DNAJC30 DONSON DYNC2H1 EIF4H ELN ERCC4 ESCO2 EXOC6B EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR2 FGFR3 FGFRL1 FKBP6 FLNA FLNB GDF5 GSC GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HOXA11 IFT43 IHH JAG1 KAT6B KRAS LAMA5 LETM1 LIMK1 LMBR1 LRP4 LZTR1 MACROH2A1 MAD2L2 MAF MAGEL2 MAP2K1 MAP2K2 MASP1 MECOM METTL27 MLXIPL MMP13 MMP9 MRAS NCF1 NDN NIPBL NOG NRAS NSD2 OBSL1 PALB2 PCNT PDE4D PIEZO2 PIGT PITX1 PLXND1 POR PRKAR1A PRKG2 PTPN11 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RASA2 RBM8A RECQL4 REV3L RFC2 RFWD3 RIPK4 RIT1 ROR2 RPL26 RRAS RRAS2 SALL4 SCARF2 SETBP1 SF3B4 SHOX SLC26A2 SLX4 SMAD6 SMC1A SMC3 SNRPN SOS1 SOS2 SPRED2 STX1A TBL2 TBX22 TBX3 TBX5 TGFB1 TMEM270 TNFRSF11A TWIST1 UBE2T VPS35L VPS37D WNT7A XRCC2 XYLT1 HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS CPT1C CYP27A1 GJC2 KPNA3 NEFL RTN2 SACS SLC33A1 STUB1 UBAP1 WASHC5 HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY AARS1 ATP11A ATXN1 BSCL2 CCT5 CNTNAP1 CTDP1 DCAF8 DEGS1 DNAJC3 EGR2 FBXO38 FGD4 FIG4 FXN GARS1 GDAP1 GJB1 GJC2 HK1 HPDL HSPB1 HYCC1 ITPR3 JPH1 KIF1B LIG3 LITAF LMNA LRSAM1 MED25 MEGF10 MFN2 MORC2 MPZ MTMR2 NALCN NDRG1 NEFL NOTCH2NLC PLEKHG5 PMP22 PNKP POLG PRPS1 PRX PTRH2 RAB7A REEP1 RRM2B SACS SBF2 SCP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC5A7 SORD SPTLC1 SPTLC2 TBC1D20 TDP1 TRIM2 TYMP UQCRC1 VCP YARS1 HP_ABNORMAL_MOVEMENTS_OF_FACE_AND_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOVEMENTS_OF_FACE_AND_HEAD ADNP AFF3 ANK3 ATG7 BRAF CACNA1B CACNA2D1 CAMK2B CDKL5 CERT1 CRB1 DDC DHX30 DPAGT1 EEF1A2 FOXG1 GABBR2 GLYCTK GNB2 GRIK2 GRIN1 GUCY2D H4C5 HNRNPK HTT KAT5 KIF15 MAPK1 MBD5 MECP2 NEXMIF NMNAT1 NTNG1 NTNG2 OCA2 PDE2A PGAP3 PIGF PUS7 RAI1 RHOBTB2 RPE65 SHANK3 SMC1A SNRPN SPTBN1 SVBP TAOK1 TPR TRAPPC9 TULP1 UBE3A VPS13A ZBTB18 ZEB2 ZSWIM6 HP_ABNORMAL_MOVEMENTS_OF_THE_UPPER_EXTREMITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOVEMENTS_OF_THE_UPPER_EXTREMITIES AFF2 AP1S2 ASXL3 BCL11A CACNA1B CCNK CDK19 CDKL5 CELF2 CHD8 CIC CNTNAP2 CSNK2A1 CUX2 DHPS DHX30 DYRK1A FMR1 GABBR2 GNAI1 GRIA2 GRIK2 GRIN1 GRIN2A H4C5 HDAC4 HECW2 HERC2 HNRNPH2 IQSEC2 KCNB1 KMT5B LARP7 LMNB1 MBD5 MECP2 MGAT2 NAA20 NACC1 NEXMIF NOVA2 NTNG1 OCA2 PDZD8 PRKAR1B SATB1 SMC1A SYNGAP1 TRAPPC6B TRAPPC9 UBE3A VAMP2 ZBTB18 HP_ABNORMAL_MOVEMENTS_OF_THE_WHOLE_BODY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOVEMENTS_OF_THE_WHOLE_BODY AFF2 DPAGT1 GNB2 KIF15 NEXMIF RAI1 WDR26 YME1L1 ZSWIM6 HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN CRPPA DAG1 FKRP FKTN GMPPB GOSR2 LARGE1 POMGNT1 POMK POMT1 POMT2 HP_ABNORMAL_MUSCLE_FIBER_MEROSIN_EXPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_MEROSIN_EXPRESSION FKRP LAMA2 MYH7 SELENON TTN HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY AARS2 ABCA7 ACTA1 ACTN2 ADGRG6 ADSS1 AFG3L2 AGRN AGTPBP1 AHCY AIFM1 AK9 ALDOA ALG14 ALG2 ALS2 ANO5 ANXA11 APP ASCC1 BCS1L BIN1 BVES CACNA1S CAPN3 CARS2 CASQ1 CAV3 CAVIN1 CCDC174 CCDC78 CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN6 CNBP COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COQ5 COX11 CPT2 CRPPA CRYAB CTBP1 DAG1 DES DGUOK DHX16 DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM3 DYNC1H1 DYSF EARS2 EMD EMILIN1 FBXL4 FHL1 FKBP14 FKRP FKTN FLNC FUS FXR1 GABRA3 GARS1 GDAP1 GFER GFPT1 GGPS1 GIPC1 GLI3 GMPPB GNE GOLGA2 GOSR2 GYG1 HACD1 HEXB HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPK HPDL IFIH1 ISCU ITGA7 JAG1 JAG2 KBTBD13 KCNA1 KCNE3 KCNJ18 KIF5A KLHL40 KLHL41 KY LAMA2 LAMB2 LAMP2 LARGE1 LDB3 LIG3 LMNA LMOD2 LMOD3 LPIN1 LRIF1 LRP12 LRP4 LYRM4 MAP3K20 MATR3 MB MEGF10 MGME1 MICU1 MIEF2 MIPEP MLIP MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTM1 MTMR14 MUSK MYF6 MYH14 MYH2 MYH7 MYL1 MYL2 MYO18B MYO9A MYOT MYPN NARS2 NDUFA4 NDUFB3 NDUFS4 NEB NEFH NEFL NEK9 NOTCH2NLC NUBPL OBSCN OPA1 ORAI1 PABPN1 PFKM PHKA1 PLEC PLIN4 PLOD1 PNPLA2 PNPT1 POLG POLG2 POLRMT POMGNT1 POMK POMT1 POMT2 POPDC3 PPARG PSEN1 PSEN2 PUS1 PYROXD1 RAPSN REEP1 RILPL1 RNASEH1 RRM2B RYR1 RYR3 SARS2 SCN4A SCO2 SDHA SELENON SGCA SGCB SGCG SIGMAR1 SIL1 SLC12A6 SLC18A3 SLC25A1 SLC25A12 SLC25A26 SLC25A32 SLC25A4 SLC25A42 SLC5A6 SLC5A7 SMN1 SMPX SNAP25 SORL1 SPEG SPG11 SPG7 SPTBN4 SPTLC1 SQSTM1 STAC3 STIM1 SUCLG1 SYNE1 SYNE2 SYT2 TCAP TIA1 TK2 TMEM43 TNNC2 TNNT1 TNPO3 TNXB TOMM40 TOR1AIP1 TPM2 TPM3 TRAPPC11 TREM2 TRIM32 TRIP4 TRMU TRPV4 TTN TWNK TYMP UBA1 UNC45B UQCRQ VAMP1 VCP VMA21 VPS13A YARS2 YME1L1 HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION CAV3 COL12A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DAG1 DMD DYSF EMD FHL1 FKRP FKTN GFER GMPPB GOSR2 LAMA2 LARGE1 LMNA MYH7 MYOT POMGNT1 POMK POMT1 POMT2 SELENON SYNE1 SYNE2 TMEM43 TTN HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION ACTA1 ACTN2 AGRN AGTPBP1 AK9 ALG14 ALG2 ANXA11 BIN1 CAV3 CCDC78 CFL2 CHRNA1 CHRNB1 CHRND CHRNE CLCN6 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COQ5 DNM2 DOK7 DPAGT1 DYNC1H1 EMILIN1 FBXL4 FKBP14 FXR1 GARS1 GDAP1 GFPT1 GMPPB GYG1 KBTBD13 KCNA1 KLHL40 KLHL41 KY LAMB2 LMOD3 LRP4 MAP3K20 MB MTMR14 MUSK MYF6 MYH14 MYH2 MYH7 MYL1 MYPN NEB OBSCN PNPT1 POLG POLRMT POMT1 RAPSN REEP1 RYR1 RYR3 SCN4A SELENON SGCG SLC25A12 SLC5A6 SMN1 SPEG SPTLC1 STIM1 TNNC2 TNNT1 TPM2 TPM3 TTN TWNK UNC45B VCP YME1L1 HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT ENO3 GAA GYG1 GYS1 MSTO1 MT-TE PFKM PHKA1 PHKA2 PHKB PHKG2 PYGM TRMU HP_ABNORMAL_MUSCLE_TISSUE_METABOLITE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_TISSUE_METABOLITE_CONCENTRATION ABHD5 ACTA1 AFG3L2 CACNA1S CHCHD10 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COQ2 COQ8A COQ9 COX6A2 CPT2 ENO3 GAA GABRA3 GYG1 GYS1 ISCU KBTBD13 KCNE3 KCNJ18 KLHL41 MIPEP MSTO1 MT-TE MT-TN MT-TS1 MYH7 MYPN NDUFA4 NDUFS4 NEB PDSS2 PFKM PHKA1 PHKA2 PHKB PHKG2 PNPLA2 PYGM SCN4A SDHA SELENON SLC22A5 STAC3 SUCLG1 SURF1 TPM2 TPM3 TRMU TTN ZFHX4 HP_ABNORMAL_MUSCULOSKELETAL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCULOSKELETAL_PHYSIOLOGY AARS1 ABCA12 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABHD12 ABL1 ACADM ACADS ACAN ACER3 ACP5 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTS3 ADAMTSL2 ADAMTSL4 ADAR ADAT3 ADCY6 ADGRG1 ADGRG6 ADGRL1 ADGRV1 ADNP AEBP1 AFF4 AGA AGPAT2 AGRN AGTPBP1 AGXT AHDC1 AHSG AIFM1 AIMP1 AIMP2 AIP AKT1 ALAD ALDH18A1 ALDH3A2 ALG1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ALS2 ALX1 ALX3 AMER1 AMMECR1 ANAPC1 ANKH ANKLE2 ANKRD11 ANKRD17 ANKRD55 ANO5 ANOS1 ANTXR1 ANTXR2 AP1G1 AP1S2 AP2S1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARCN1 ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARMC5 ARPC4 ARSB ARVCF ARX ASAH1 ASCC1 ASH1L ASPA ASPH ASPN ASXL1 ASXL2 ASXL3 ATAD1 ATL1 ATL3 ATN1 ATP11A ATP2A1 ATP5F1D ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATPAF2 ATR ATRIP ATRX AUTS2 B2M B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D2 BAG3 BANF1 BAZ1B BCAS3 BCL11A BCL7B BCOR BCR BGN BHLHA9 BICD2 BICRA BIN1 BLNK BLTP1 BMP1 BMP15 BMP2 BMP6 BMPER BMPR1A BMPR1B BNC1 BPNT2 BRAF BRAT1 BRD4 BRF1 BRPF1 BSCL2 BTK BUD23 C12orf4 C18orf32 C19orf12 C1R C1S C2orf69 C4A CA2 CACNA1A CACNA1C CACNA1E CADM3 CAMK2A CAMLG CAMTA1 CANT1 CAPN3 CARS1 CASR CASZ1 CAV1 CAVIN1 CBL CBS CCBE1 CCDC134 CCDC141 CCDC22 CCDC32 CCDC47 CCDC8 CCN2 CCN6 CCND1 CCNQ CCR1 CCR6 CCT5 CD244 CD247 CD79A CD79B CD96 CDC42 CDC42BPB CDC45 CDC6 CDC73 CDH11 CDH23 CDH3 CDK13 CDK5 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CDT1 CENPE CENPJ CENPT CEP104 CEP152 CEP55 CEP57 CFL2 CHAMP1 CHAT CHD3 CHD4 CHD7 CHEK2 CHMP1A CHN1 CHP1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CHSY1 CIITA CISD2 CKAP2L CLCF1 CLCN3 CLCN5 CLCN7 CLDN11 CLIC2 CLIP2 CLPB CLTCL1 CNTN1 CNTNAP1 COASY COG1 COG5 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMP COMT COPB2 COQ7 COX11 COX4I1 COX4I2 CPLX1 CPOX CPT2 CREB3L1 CREBBP CRKL CRLF1 CRPPA CRTAP CSGALNACT1 CSNK2A1 CTBP1 CTC1 CTCF CTDP1 CTNNB1 CTNND2 CTNS CTSK CUL4B CUL7 CYB5A CYBA CYBB CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP26B1 CYP27A1 CYP27B1 CYP2R1 DAG1 DARS2 DBH DCAF17 DCC DCHS1 DCPS DCX DDB1 DDB2 DDHD2 DDOST DDR2 DDRGK1 DDX3X DDX6 DEAF1 DEGS1 DHCR24 DHODH DHX16 DHX30 DHX37 DISP1 DKC1 DKK1 DLG4 DLK1 DLL1 DLL3 DMD DMP1 DMRT3 DNA2 DNAJB6 DNAJC21 DNAJC30 DNAL4 DNM2 DNMT1 DNMT3A DOK7 DONSON DPAGT1 DPF2 DPH1 DPH2 DPM1 DPM2 DPP6 DPYD DPYSL5 DSE DSP DST DUSP6 DVL1 DVL3 DYM DYNC2LI1 DYRK1A DYSF EBP ECE1 ECEL1 EED EFEMP2 EFL1 EFNB1 EHHADH EIF4A3 EIF4H EIF5A ELANE ELN ELOVL4 ELP1 EMD EMG1 EMILIN1 EN1 ENPP1 EP300 EPB41L1 EPCAM EPG5 ERAP1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ERMARD ESCO2 ESR1 EVC EVC2 EXOC2 EXOC6B EXOC7 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 EYA1 EZH2 F8 FAM111A FAM111B FAM20C FAN1 FANCC FANCI FAR1 FARSA FARSB FAS FAT4 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXO28 FBXW11 FCSK FDFT1 FERMT1 FEZF1 FGD1 FGF16 FGF17 FGF23 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FIP1L1 FITM2 FKBP10 FKBP14 FKBP6 FKRP FKTN FLI1 FLII FLNA FLNB FLNC FLRT1 FLRT3 FLVCR1 FLVCR2 FMR1 FN1 FOCAD FOS FOXA2 FOXE1 FOXH1 FOXP1 FOXP2 FOXP3 FSHB FSHR FUCA1 FUS FUT8 FUZ FZD2 FZD4 GABRA1 GABRD GABRG2 GAD1 GALNS GAN GARS1 GAS1 GATA1 GATA2 GATA4 GATAD2B GATM GBA1 GBE1 GCH1 GCK GDAP1 GDF11 GDF3 GDF5 GDF6 GET4 GFM2 GFPT1 GH1 GHR GHRHR GHSR GJA1 GJA5 GJA8 GJB1 GJB2 GJB6 GK GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLRA1 GLRB GLUL GMNN GMPPB GNAI3 GNAS GNB1 GNB2 GNE GNPAT GNPTAB GNPTG GNRH1 GNRHR GNS GOLGA2 GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPHN GPKOW GPR101 GPT2 GPX4 GRB10 GRIA3 GRIA4 GRID2 GRIN1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H19 H3-3A H3-3B H4C5 H4C9 HABP2 HACD1 HBA1 HBA2 HBB HCN1 HDAC4 HDAC8 HEPHL1 HERC1 HES7 HESX1 HEXB HFE HGD HGSNAT HIKESHI HINT1 HIRA HK1 HLA-B HLA-DRB1 HMBS HMGA2 HNF1B HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPH1 HNRNPH2 HNRNPK HOXA11 HOXA13 HOXD13 HPDL HPGD HRAS HS2ST1 HS6ST1 HSD11B1 HSD17B4 HSPB1 HSPD1 HSPG2 HTRA1 HUWE1 HYAL1 HYMAI IARS1 IARS2 IBA57 IDH1 IDH2 IDS IDUA IER3IP1 IFIH1 IFITM5 IFNGR1 IFT122 IFT43 IFT52 IFT57 IGF1 IGF1R IGF2 IGFALS IGHM IGHMBP2 IGLL1 IHH IKBKG IL10 IL12A IL12A-AS1 IL12RB1 IL17RD IL1R1 IL1RAPL1 IL1RN IL23R IL2RA IL2RB IL6ST IMPDH2 INF2 INPP5K INPPL1 INS INSR IPO8 IQSEC2 IRF2BP2 IRF5 IRF6 IRX5 ITCH ITGA7 ITGB2 ITGB4 ITGB6 JAG2 JARID2 JMJD1C JUP KANSL1 KARS1 KAT6B KBTBD13 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KDELR2 KDM1A KDM3B KDM5B KDM5C KDM6A KDM6B KIAA0319L KIAA0753 KIDINS220 KIF14 KIF15 KIF1A KIF1B KIF21A KIF22 KIF26A KIF5A KIF5C KISS1 KISS1R KIT KLC2 KLHL40 KLHL41 KLHL7 KLHL9 KLRC4 KMT2A KMT2B KMT2D KRAS KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT83 KRT9 KY L1CAM LAGE3 LAMA2 LAMA5 LAMB2 LAMB3 LARGE1 LBR LEMD3 LEP LEPR LETM1 LFNG LGI4 LGR4 LHCGR LHX4 LIAS LIFR LIG4 LIMK1 LMBR1 LMBRD2 LMNA LMNB1 LMNB2 LMOD3 LMX1B LONP1 LOX LPIN2 LRP4 LRP5 LRRC8A LSM11 LSS LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LZTR1 MACROH2A1 MADD MAF MAFB MAGEL2 MALT1 MAMLD1 MAN1B1 MAN2B1 MAP1B MAP2K2 MAP3K1 MAP3K20 MAP3K7 MAPK1 MARS1 MASP1 MATN3 MBTPS2 MC2R MCM9 MCTP2 MECOM MECP2 MECR MED11 MED12 MED13L MED25 MEFV MEG3 MEGF10 MEGF8 MEN1 MEOX1 MESD MESP2 MET METTL27 MFN2 MICU1 MINPP1 MKKS MKRN3 MKS1 MLH1 MLH3 MLXIPL MME MMP1 MMP13 MMP14 MMP2 MMP23B MMP9 MOGS MORC2 MPDU1 MPLKIP MPV17 MRAS MRE11 MRPS22 MRPS34 MSH2 MSH4 MSH6 MSL3 MSMO1 MSTO1 MT-ATP6 MT-ATP8 MT-TE MT-TK MT-TL1 MTAP MTM1 MTMR14 MTRFR MTX2 MUSK MVK MYBPC1 MYH2 MYH3 MYH7 MYH8 MYL1 MYL11 MYL2 MYMK MYO18B MYO9A MYOD1 MYOT MYPN NAA10 NABP1 NACC1 NADSYN1 NAE1 NAGLU NALCN NANS NARS1 NBAS NCAPG2 NCF1 NCF2 NDE1 NDNF NDRG1 NDUFAF4 NDUFAF6 NDUFS3 NEB NEDD4L NEFL NEK9 NELFA NEPRO NEU1 NF1 NFASC NFATC2 NFE2L2 NFIX NFKBIL1 NGF NGLY1 NHERF1 NHLH2 NHP2 NIN NIPA1 NIPBL NKAP NKX3-2 NLRP1 NLRP12 NLRP3 NMNAT1 NOD2 NODAL NOG NONO NOP10 NOTCH2 NOTCH3 NPM1 NPPA NPR2 NPR3 NR0B1 NR2F1 NR3C1 NR4A2 NR5A1 NRAS NRCAM NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NT5C2 NTN1 NTRK1 NUMA1 NUP107 NUP133 NUP188 NUP85 NUP88 NXN OBSL1 OCA2 OCRL OFD1 OPA1 OPA3 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTX2 P3H1 P4HA2 P4HB P4HTM PAK2 PAM16 PANK2 PARN PAX1 PAX2 PAX3 PAX7 PAX8 PCDH19 PCGF2 PCNA PCNT PCSK1 PCYT1A PDE4D PDGFRB PDHA1 PDPN PDX1 PDXK PERP PEX1 PEX2 PEX5 PEX6 PEX7 PGM2L1 PGM3 PHACTR1 PHEX PHF6 PHGDH PHIP PI4KA PIEZO2 PIGA PIGG PIGL PIGN PIGP PIGS PIGT PIGU PIGY PIK3C2A PIK3CA PIK3R1 PIK3R2 PIP5K1C PITX1 PKDCC PLA2G6 PLAA PLAGL1 PLCH1 PLEC PLEKHG5 PLEKHM1 PLK4 PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PML PMM2 PMP22 PMS1 PMS2 PNKD PNPLA6 PNPT1 POGZ POLA1 POLD1 POLE POLR1D POLR3A POLR3GL POLR3H POMC POMK POMT1 POMT2 POP1 POR PORCN POT1 POU1F1 POU3F4 PPARG PPIB PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R3C PPP2R5D PPP3CA PPT1 PQBP1 PRDM16 PRDM5 PRG4 PRKACA PRKACB PRKAR1A PRKCZ PRKG2 PRKRA PROK2 PROKR2 PROP1 PRR12 PRRT2 PRUNE1 PSAP PSAT1 PSMB4 PSMB8 PSMB9 PSMC3IP PSMG2 PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTF1A PTH1R PTHLH PTPN11 PTPN2 PTPN22 PTRH2 PUF60 PUS1 PYCR1 PYCR2 PYROXD1 QRICH1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAB7A RAC1 RAD21 RAD51 RAF1 RAI1 RAPSN RARA RARS2 RASA1 RASA2 RB1 RBBP8 RBM28 RBM8A RECQL RECQL4 REEP1 REL RERE RET RETREG1 REV3L RFC1 RFC2 RFT1 RFX7 RIC1 RIN2 RIPK4 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF13 RNF135 RNPC3 RNU12 RNU4ATAC RNU7-1 ROR2 RPL10 RPL26 RPS20 RPS6KA3 RRAS RRAS2 RREB1 RRM2B RSPO2 RSPRY1 RTEL1 RTL1 RTTN RUNX1 RUNX2 RUSC2 RYR1 RYR3 SALL1 SALL4 SAMHD1 SATB1 SATB2 SBDS SC5D SCARB2 SCARF2 SCN1A SCN1B SCN2A SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHD SEC23A SEC24C SEC24D SEC31A SECISBP2 SELENON SEMA3A SEMA4A SEMA5A SEPSECS SERPINF1 SERPINF2 SERPINH1 SET SETBP1 SETD1A SETD2 SF3B2 SF3B4 SFRP4 SGCA SGCG SGMS2 SGSH SH3PXD2B SHANK3 SHH SHOC2 SHOX SHPK SIGMAR1 SIK3 SIL1 SIN3A SIN3B SIX3 SIX6 SKI SKIC3 SLC10A7 SLC12A6 SLC16A2 SLC18A3 SLC1A2 SLC1A4 SLC22A4 SLC25A1 SLC25A19 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC34A1 SLC34A3 SLC35A2 SLC35A3 SLC35B2 SLC35D1 SLC37A4 SLC39A13 SLC39A14 SLC39A7 SLC39A8 SLC4A1 SLC4A2 SLC5A7 SLC6A5 SLC6A8 SLC6A9 SLC7A7 SLC9A6 SLCO2A1 SLURP1 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMOC1 SMPD1 SMPD4 SMS SNAP25 SNRPB SNX10 SNX14 SOBP SOHLH1 SON SOS1 SOS2 SOX10 SOX11 SOX2 SOX3 SOX4 SOX5 SOX9 SP7 SPARC SPART SPEG SPEN SPG11 SPG7 SPI1 SPIDR SPRED2 SPRTN SPRY4 SPTBN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A3 SRP54 SRPX2 SRSF2 SRY STAC3 STAG1 STAG2 STAT1 STAT3 STAT4 STAT5B STIL STIM1 STING1 STRADA STX1A STX1B STXBP1 SUCLG1 SUFU SUMF1 SUZ12 SVIL SYK SYNE1 SYNE2 SYT1 SYT2 TAB2 TAC3 TACR3 TAF1 TAF13 TANC2 TAOK1 TAPT1 TARS1 TBC1D20 TBC1D2B TBCD TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX3 TBX4 TBX5 TBX6 TCF12 TCF20 TCF3 TCIRG1 TCTN3 TDGF1 TDO2 TEK TELO2 TENT5A TERC TERT TET2 TET3 TFAP2A TFAP2B TFE3 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THOC2 THOC6 THRA TIMM8A TINF2 TLK2 TLR4 TMCO1 TMEM107 TMEM165 TMEM218 TMEM222 TMEM270 TMEM38B TMEM43 TMEM67 TMEM70 TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNFSF11 TNNC2 TNNI2 TNNT1 TNNT3 TNPO3 TNRC6B TNXB TOGARAM1 TOM1 TONSL TOR1A TOR1AIP1 TP53 TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRAK1 TRAPPC2 TREM2 TREX1 TRH TRHR TRIM2 TRIM8 TRIP11 TRIP13 TRIP4 TRMT10A TRPS1 TRPV3 TRPV4 TRPV6 TSEN54 TSHB TSHR TTC26 TTN TUBA1A TUBB3 TWIST1 TWIST2 TYMS TYROBP UBA1 UBAC2 UBE3A UBE3C UBE4B UBR1 UCHL1 UFC1 UFD1 UFSP2 UNC45A UNC80 UPF3B UROS USB1 USP48 USP7 USP8 USP9X VAMP1 VAMP7 VANGL1 VAPB VARS1 VCP VDR VHL VIPAS39 VMA21 VPS11 VPS13B VPS33A VPS33B VPS37A VPS37D VPS53 VRK1 VWA1 WASF1 WBP11 WDR11 WDR19 WDR26 WDR35 WDR4 WDR45B WDR73 WFS1 WIPI2 WNK1 WNT1 WNT3A WNT5A WNT7A WRAP53 WRN WT1 WWOX XPA XPC XYLT1 XYLT2 YARS1 YRDC YWHAG YY1 YY1AP1 ZBTB16 ZBTB20 ZBTB42 ZC4H2 ZDHHC9 ZEB2 ZFHX2 ZFPM2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF335 ZNF341 ZNF407 ZNF469 ZNF687 ZNF699 ZNHIT3 ZPR1 ZSWIM7 HP_ABNORMAL_MYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELINATION AARS1 ABAT ABCA1 ABCD1 ABHD12 ACBD5 ACER3 ACO2 ACOX1 ACTL6B ACY1 ADAMTSL1 ADAR ADARB1 ADAT3 ADCY6 ADGRG1 ADSL AFG3L2 AHCY AHDC1 AIFM1 AIMP1 AIMP2 ALDH3A2 ALDH5A1 ALDH6A1 ALDH7A1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG8 ALG9 ALS2 AP3B2 AP3D1 APTX ARF1 ARHGEF10 ARID1B ARNT2 ARSA ARV1 ARX ASH1L ASNS ASPA ASXL1 ATP11A ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP7B ATP9A ATXN2 BAG3 BCAP31 BCAS3 BCS1L BMP4 BOLA3 BRAT1 BRPF1 C18orf32 C2CD3 C2orf69 CACNA1A CACNA1B CACNA1I CACNA2D1 CARS1 CASK CDC40 CDK19 CDKL5 CELF2 CHAMP1 CHKA CLCN3 CLCN4 CLCN7 CLDN11 CLP1 CLPB CLTC CLTCL1 CNKSR2 CNOT3 CNTNAP1 COA7 COA8 COG5 COG7 COPB2 COQ7 COX14 COX6A1 COX6B1 COX7B CREBBP CSF1R CTC1 CTDP1 CTNNB1 CTSK CUL3 CYB5A CYB5R3 CYFIP2 CYP27A1 D2HGDH DAG1 DALRD3 DARS1 DARS2 DCAF8 DCX DDOST DDX6 DEGS1 DHDDS DHFR DHH DHX16 DHX30 DHX37 DMXL2 DNAJC3 DNM1 DNM1L DNM2 DNMT1 DOHH DPAGT1 DPM1 DYRK1A EARS2 EDNRB EEF1A2 EGR2 EIF2AK2 EIF2B1 ELOVL1 ELOVL4 ELP1 EP300 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOC2 EXOC8 EXOSC1 EXOSC2 EXOSC5 EZH2 FA2H FANCB FANCL FAR1 FBP2 FBXL4 FBXO28 FCSK FDXR FGD4 FGF12 FGF13 FIG4 FLCN FLRT1 FLVCR1 FOCAD FOXG1 FOXP1 FOXRED1 FRMD5 FRMPD4 FUCA1 FUS FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAN GATAD2B GBF1 GCDH GDAP1 GEMIN4 GET4 GFAP GFM1 GJB1 GJC2 GLRX5 GLS GLUL GLYCTK GMNN GNAO1 GNB1 GNB2 GNB4 GOLGA2 GPT2 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GTF2E2 GTF2H5 GTPBP3 H4C5 HACE1 HARS1 HCFC1 HCN1 HEXB HIKESHI HK1 HLA-DQB1 HLA-DRB1 HNRNPU HS2ST1 HSD17B4 HSPB8 HSPD1 HTRA1 HYCC1 IBA57 IDH1 IDUA IER3IP1 IFIH1 INF2 INSR INTU IREB2 ISCA1 ISCA2 ITPA JPH1 KARS1 KCNA1 KCNA2 KCNB1 KCNC2 KCNJ10 KCNN2 KCNQ2 KCNT1 KDM1A KIDINS220 KIF1A KIF1B KIF1C KIF5A KLC2 KMT2E L2HGDH LAMB1 LEMD2 LIAS LIG3 LIPT1 LIPT2 LITAF LMNA LMNB1 LMX1B LRPPRC LSM11 MADD MAN2B1 MANBA MAPK8IP3 MARS1 MAT1A MCOLN1 MDH2 MED17 MED27 MFN2 MLYCD MMACHC MME MMUT MOCS1 MOCS2 MOGS MORC2 MPLKIP MPV17 MPZ MRPS22 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFS MTMR2 MTRFR MTRR MTTP NACC1 NADK2 NAE1 NARS1 NARS2 NCDN NDRG1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEFL NEUROD2 NGF NGLY1 NKX6-2 NMNAT1 NOTCH2NLC NR2F1 NRCAM NRROS NTRK1 NTRK2 NUBPL NUP133 NUP188 NUS1 OCA2 OSTM1 PACS2 PAK1 PARS2 PC PDCD1 PDGFRB PDYN PEX1 PEX10 PEX13 PEX16 PEX19 PEX7 PGAP1 PGAP2 PGAP3 PGM3 PHACTR1 PHGDH PI4KA PIBF1 PIGA PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGU PIGV PIGW PIGY PKDCC PLAA PLCB1 PLEKHG2 PLEKHG5 PLP1 PLPBP PMM2 PMP2 PMP22 PNKP PNPT1 POGZ POLG POLR1C POLR2A POLR3A POLR3B POU3F3 PPFIBP1 PPIL1 PPP1R15B PPP2CA PPP2R1A PPP3CA PRF1 PRKDC PRMT7 PRPS1 PRUNE1 PRX PSAP PSAT1 PTEN PTRH2 PURA PYCR2 QARS1 RAB11B RAB3GAP1 RAB3GAP2 RAB7A RAI1 RARS1 RBM8A REPS1 RERE RETREG1 RFC1 RFX7 RHOBTB2 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF168 RNF220 RNU7-1 RRM2B SACS SAMHD1 SATB2 SBF1 SBF2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHB SELENOI SEPSECS SETD1A SH3TC2 SHANK3 SHPK SIGMAR1 SIK1 SIN3A SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC1A2 SLC1A4 SLC25A1 SLC25A12 SLC25A22 SLC2A1 SLC30A10 SLC32A1 SLC33A1 SLC35A2 SLC35B2 SLC38A3 SLC6A1 SLC6A8 SMG9 SMPD1 SMPD4 SNIP1 SNORD118 SOX10 SOX3 SP110 SPATA5 SPG11 SPTAN1 SPTBN1 SPTBN4 SPTLC1 STAMBP STXBP1 SUMF1 SURF1 SYNGAP1 SYNJ1 SYT1 SZT2 TAF13 TAF2 TAOK1 TARS1 TBC1D24 TBCD TBCE TDP1 TFG TGFB1 TIAM1 TIMM22 TIMMDC1 TKFC TMEM106B TMEM126B TMEM147 TMEM163 TMEM240 TMEM63A TMTC3 TNPO2 TNR TPR TRAK1 TRAPPC11 TRAPPC2L TREM2 TREX1 TRIM2 TRIM8 TRMT10A TRMT5 TRNT1 TRRAP TTC26 TUBB4A TUFM TWNK TXN2 TYMP TYROBP UBA5 UBE3A UBTF UFC1 UGDH UPB1 VPS11 VPS13A VPS33A VRK1 WARS1 WARS2 WDR26 WNK1 WWOX YARS1 YIF1B YME1L1 YRDC YWHAG YY1 ZC4H2 ZFR ZFYVE26 ZMIZ1 ZNF148 ZNF335 ZNF526 ZNF699 ZNHIT3 HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY CDIN1 DDX41 KIF23 MYSM1 RACGAP1 SLC19A1 UBA1 HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY AARS1 ABCC9 ABCD4 ABHD5 ABL1 ACP5 ACTC1 ACTN2 ADA ADA2 AGA AK2 AMN ANAPC1 ANKRD1 AP3B1 AP3D1 APOE ASAH1 ASXL1 ATRX BACH2 BAG3 BAG5 BCL11B BCOR BCR BLNK BRAF BTK BTNL2 CALR CAMK2B CAP2 CAPN3 CARD10 CARD11 CARD9 CARS1 CASP10 CBL CD247 CD27 CD3D CD3E CD40 CD40LG CD79A CD79B CDC40 CDCA7 CDH23 CDSN CEBPE CHD7 CIITA CLPB COG4 CRYAB CSF3R CSRP3 CTC1 CTLA4 CUBN CXCR2 CXCR4 CYBA CYBB CYBC1 CYP26C1 DCLRE1C DDX41 DES DIAPH1 DKC1 DMD DNAJC21 DNASE2 DNMT3B DOCK8 DOLK DSG2 DSP EFL1 EIF2AK3 ELANE EPG5 EPX ERCC2 ERCC3 ETV6 EXTL3 FANCA FANCC FANCD2 FANCE FANCG FANCI FAS FASLG FBXL4 FBXW7 FCGR3B FDX2 FHL2 FIBP FIP1L1 FKTN FMO3 FNIP1 FOXP3 FTCD FUT8 G6PC3 GATA1 GATA2 GATAD1 GFI1 GINS1 GLB1 GPI GPR35 GSS GTF2E2 GTF2H5 HAND2 HAVCR2 HAX1 HEATR3 HELLS HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HSCB HTRA2 ICOS IFNG IFNGR1 IGHM IGLL1 IKBKB IKBKG IKZF1 IL1RN IL2RG IL36RN IL6ST IL7R IPO8 IRAK4 IRF2BP2 IRF8 ITCH ITK JAGN1 JAK1 JAK2 JPH2 KIT KRAS LAMA4 LAMTOR2 LBR LCP2 LDB3 LIG4 LIPA LMBRD1 LMNA LMOD2 LRBA LRRC8A LYST MAD2L2 MDM4 MECOM MEFV MMAA MMAB MMACHC MMUT MPL MPLKIP MSN MST1 MTHFD1 MTRR MVK MYBPC3 MYD88 MYH6 MYH7 MYH9 MYPN MYSM1 NABP1 NBAS NCAPG2 NCF1 NCF2 NCF4 NDUFA6 NEU1 NEXN NHP2 NLRP1 NLRP3 NOP10 NPC1 NPC2 NPM1 NR3C1 NRAS NSUN2 NUMA1 OTULIN PACS2 PARN PCCA PCCB PDGFRA PDGFRB PGM3 PIK3CD PIK3CG PIK3R1 PLN PML PMM2 PNP PPCS PPIL1 PRDM16 PRDX1 PRF1 PRKAR1A PRKCD PRTN3 PSEN1 PSEN2 PTPN22 RAB27A RAC2 RAF1 RAG1 RAG2 RARA RASGRP1 RBM20 RBM8A RECQL4 RELB RFX5 RFXANK RFXAP RMRP RNF113A RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 RUNX1 SAMD9 SAMD9L SASH3 SBDS SCN5A SDHA SEC61A1 SEMA4D SF3B1 SFXN4 SGCD SGCG SH2B3 SH2D1A SLC19A1 SLC27A4 SLC29A3 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SMARCAL1 SMARCD2 SMPD1 SPI1 SPINK5 SPPL2A SREBF1 SRP19 SRP54 SRSF2 STAT1 STAT3 STAT5B STK4 STX11 STXBP2 TAF1A TAFAZZIN TARS1 TBK1 TBL1XR1 TBX21 TCAP TCF3 TCF4 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TICAM1 TINF2 TLR3 TLR8 TMEM147 TMPO TNNC1 TNNI3 TNNT2 TOM1 TONSL TP53 TPM1 TPP2 TRAC TRAF3 TSR2 TTN TXNRD2 TYMS UBE2A UNC13D UNC93B1 USB1 USP48 USP8 VCL VEZF1 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 WRAP53 XIAP ZAP70 ZBTB16 ZBTB24 ZNF341 ZNFX1 HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY AARS1 AARS2 ABCC6 ABCC8 ABCC9 ABHD5 ACAD8 ACAD9 ACADS ACADVL ACTA1 ACTC1 ACTN2 ADA2 ADAR ADCY5 ADORA2A AGK AGL AGPAT2 AHCY AIP ALG1 ALG3 ALMS1 ALPK3 ANK1 ANKRD1 ANKRD11 ANKS6 ANO5 ARSB ATAD3A ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATPAF1 ATPAF2 B2M BAG3 BAG5 BAZ1B BBS2 BCL7B BCS1L BMP2 BMP6 BOLA3 BRAF BRCA1 BRCA2 BRCC3 BRIP1 BSCL2 BUD23 C1QBP C4A CACNA1A CALM2 CAP2 CARS1 CASQ2 CASZ1 CAV1 CAV3 CAVIN1 CCND1 CCR1 CDKN1C CENPE CHKB CISD2 CLIP2 CLN3 CLPB COA5 COA6 COA8 COL7A1 COQ2 COQ4 COX10 COX14 COX15 COX6B1 COX7B CPT1A CPT2 CRLS1 CRYAB CSRP3 D2HGDH DCAF8 DDX3X DEF6 DES DHCR7 DLD DLK1 DMD DNAJB4 DNAJC19 DNAJC21 DNAJC30 DOLK DPM3 DSC2 DSG2 DSP DTNA ECHS1 EIF4H ELAC2 ELN EMD ENPP1 EPB42 EPG5 ERAP1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 EYA4 FAH FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASTKD2 FBXL4 FHL1 FHL2 FHOD3 FIG4 FKBP6 FKRP FKTN FLAD1 FLNA FLNC FNIP1 FOS FOXRED1 FTO FXN GAA GABRD GATA4 GATA5 GATAD1 GATC GBA1 GBE1 GJA5 GLA GLB1 GMPPB GNAI2 GNE GNPTAB GNS GPC3 GPC4 GPR101 GPX4 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUSB GYG1 GYS1 HADH HADHA HADHB HAMP HAND2 HBB HCCS HCN4 HFE HGSNAT HJV HLA-B HMGCL HNRNPA1 HNRNPA2B1 HPS1 HRAS HSD17B10 HSPG2 IDH2 IDS IDUA IFIH1 IFNGR1 IGF2 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R INSR IRF4 ITPA JAG2 JPH2 JUP KANSL1 KAT6B KBTBD13 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KCNQ1OT1 KIF20A KLF1 KLHL24 KLHL41 KLRC4 KRAS LAMA2 LAMA3 LAMA4 LAMB3 LAMC2 LAMP2 LDB3 LETM1 LIAS LIMK1 LIMS2 LMNA LMOD2 LRP12 LRPPRC LSM11 LTBP4 LUZP1 LZTR1 MAD2L2 MAP2K1 MAP2K2 MC2R MCM10 MEFV MEG3 MEN1 METTL27 MGME1 MIB1 MICOS13 MICU1 MIPEP MLX MLXIPL MLYCD MMACHC MMP1 MMP23B MMUT MPLKIP MRAP MRAS MRPL3 MRPL44 MRPS14 MRPS22 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYO18B MYOCD MYOT MYOZ2 MYPN MYSM1 NAGA NAGLU NAXD NBAS NCF1 NDUFA1 NDUFA10 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEK8 NEU1 NEXN NF1 NFS1 NNT NONO NPPA NRAS NUBPL NUP107 OPA1 PALB2 PARS2 PCCA PCCB PDGFRA PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGM1 PHKA2 PHKG2 PHYH PIGT PKP2 PLN PMM2 PNPLA2 POLG POLG2 POMGNT1 POMK POMT1 POMT2 PPA2 PPARG PPCS PPP1CB PPP1R21 PRDM16 PRKAG2 PRKCZ PRUNE1 PSEN1 PSEN2 PTPN11 PYGL PYGM QRSL1 RAB3GAP2 RAD51 RAD51C RAF1 RBCK1 RBM20 RERE RFC2 RFWD3 RIT1 RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF220 RNU4ATAC RNU7-1 RPL3L RRAGD RRM2B RTL1 RYR2 SAMHD1 SARDH SBDS SCARB2 SCN5A SCO2 SDHA SDHAF1 SDHB SDHD SERPINE1 SGCA SGCB SGCD SGSH SHMT2 SHOC2 SKI SLC19A2 SLC1A3 SLC22A5 SLC25A20 SLC25A3 SLC25A4 SLC2A10 SLC30A10 SLC40A1 SLC4A1 SLC5A6 SLC6A6 SLX4 SMC1A SMPX SOS1 SPEG SPEN SPRED2 SPTA1 SPTB SQSTM1 SRP54 STAR STAT4 STX1A SUCLG1 SUFU SURF1 SYNE1 SYNE2 TAF1A TAFAZZIN TANGO2 TAPT1 TARS1 TBL2 TCAP TERT TFR2 TGFB1 TGFB3 TIA1 TIMMDC1 TK2 TKFC TLR4 TMEM126A TMEM126B TMEM270 TMEM43 TMEM70 TMPO TNFRSF1A TNNC1 TNNI3 TNNI3K TNNT1 TNNT2 TOP3A TPI1 TPM1 TPM2 TPM3 TRDN TREX1 TRIM37 TRIP4 TRMT5 TRNT1 TSFM TTN TTPA TTR TULP3 TWNK TXNRD2 UBAC2 UBE2T UBE3C UBE4B UBR1 UCP2 UQCRFS1 USP9X VAC14 VARS2 VCL VCP VEZF1 VHL VPS13A VPS33A VPS37D WARS2 WFS1 XK XRCC2 XRCC4 XYLT1 XYLT2 YARS2 HP_ABNORMAL_NASAL_BASE_NORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BASE_NORPHOLOGY ABCA5 ARID1A ARID1B ARID2 ATP6V1B2 BCORL1 DPF2 EXOSC2 FIG4 KMT5B LIFR METTL5 MYT1L SIN3A SLC26A2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNX14 SOX11 SOX4 TBC1D24 USP9X VAC14 HP_ABNORMAL_NASAL_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BONE_MORPHOLOGY ALX4 BRAF CTNNB1 PDGFRB PPP1R12A SIX3 SLC25A24 TONSL USH1G HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY ABCA4 ABCC9 ACAN ACOX1 ACSL4 ACTB ACTG1 ACTG2 ACY1 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAT3 ADGRG6 ADNP AFF2 AGA AGBL5 AGL AGO1 AGO2 AHDC1 AHI1 AHR AIFM1 AKT1 AKT3 ALDH6A1 ALG12 ALG2 ALG3 ALG9 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANK1 ANKH ANKRD11 ANTXR1 AP2M1 AP3B1 AP4B1 AP4E1 AP4S1 APC2 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSB ARSK ARSL ARVCF ARX ASH1L ASPH ASXL1 ASXL3 ATAD3A ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATPAF2 ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAS3 BCL7B BCOR BCR BEST1 BICRA BLTP1 BMP2 BMPER BMPR1A BMPR1B BPNT2 BPTF BRAF BRCA1 BRD4 BRF1 BRPF1 BUB1B BUD23 CA4 CACNA1C CAMKMT CAMSAP1 CANT1 CASK CASZ1 CBL CBY1 CC2D2A CCBE1 CCDC22 CCND2 CCNK CCNQ CD96 CDC42 CDC42BPB CDCA7 CDH11 CDH2 CDHR1 CDK10 CDK13 CDKL5 CDKN1C CDON CENPF CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP57 CERKL CFAP418 CHD2 CHD3 CHD5 CHD7 CHD8 CHN1 CHST3 CILK1 CKAP2L CLIC2 CLIP2 CLP1 CLRN1 CNGA1 CNGB1 CNOT1 COG1 COG4 COG5 COG8 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL27A1 COL2A1 COL3A1 COL9A3 COLEC11 COMT COX4I1 COX7B CPLANE1 CPLX1 CRB1 CREBBP CRIPT CRKL CRLF1 CRX CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTNND2 CTSD CTU2 CUL4B CUL7 DCAF17 DCHS1 DDB1 DDR2 DDX3X DEAF1 DHCR24 DHCR7 DHDDS DHPS DHX30 DHX38 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DMXL2 DNAJC30 DNMT3B DOCK6 DOCK7 DOK7 DPF2 DPH1 DPH2 DPH5 DPM1 DPYD DPYSL5 DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP ECE1 EDA EDAR EDARADD EDEM3 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFNB1 EIF2AK3 EIF4H ELN EP300 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERF ESCO2 ETFA ETFB ETFDH EXOC2 EXOSC1 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FAM149B1 FAM161A FAM20C FANCL FAR1 FAT4 FBN1 FBXL3 FBXO28 FBXO31 FDFT1 FGD1 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FKBP6 FLI1 FLII FLNA FLNB FOCAD FOXC1 FOXG1 FOXH1 FOXL2 FRAS1 FREM1 FREM2 FRMPD4 FSCN2 FTSJ1 FUCA1 FUT8 FZD2 G6PC3 GABRD GAD1 GALNT2 GAS1 GATA1 GATA4 GATAD2B GBA1 GDF5 GHR GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLIS3 GLUL GMNN GNAO1 GNAS GNB2 GNE GNPAT GNPTAB GNRH1 GNRHR GNS GOLGA2 GP1BB GPC3 GPC4 GPC6 GPRASP2 GPX4 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B H3-3A H4C11 H4C5 H4C9 HBA1 HBA2 HBB HCCS HDAC4 HDAC8 HEATR3 HECTD4 HECW2 HELLS HEPACAM HERC1 HERC2 HES7 HESX1 HGSNAT HIRA HIVEP2 HMGA2 HNRNPK HNRNPR HOXB1 HRAS HS2ST1 HS6ST1 HSD17B4 HSPG2 HUWE1 HYAL1 HYLS1 HYOU1 IARS2 IDH3A IDH3B IDS IDUA IFT122 IFT140 IFT172 IFT27 IFT52 IFT57 IFT74 IFT80 IFT81 IFT88 IGBP1 IGF1R IL11RA IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IRX5 IYD JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNN3 KCTD1 KDM1A KDM4B KDM5B KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF21A KIF7 KIFBP KISS1 KISS1R KIT KIZ KLHL7 KMT2A KMT2D KMT5B KNSTRN KPTN KRAS KREMEN1 KYNU LAMA5 LARP7 LBR LEMD3 LETM1 LFNG LHX3 LHX4 LIG4 LIMK1 LINS1 LMNA LMNB1 LONP1 LRAT LRP2 LRPPRC LTBP1 LTBP3 LTBP4 LUZP1 LZTFL1 MACF1 MADD MAF MAFB MAGEL2 MAK MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MDH1 MDM2 MECP2 MED12 MED12L MED13 MED13L MED27 MEF2C MEG3 MEGF8 MEIS2 MERTK MESP2 METTL23 METTL27 MGAT2 MGP MIA3 MID1 MINPP1 MIPEP MITF MKKS MKRN3 MKS1 MLXIPL MMP2 MMP23B MN1 MRAS MRPS14 MTHFR MTOR MTX2 MUSK MYCN MYH3 MYMK MYOD1 MYRF MYT1L NAA10 NAGA NALCN NANS NBN NCF1 NDE1 NDP NDUFB11 NECTIN1 NEK1 NEK2 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFASC NFIB NFIX NHLH2 NHS NIPBL NMNAT1 NODAL NOG NONO NOTCH2 NOTCH3 NPAP1 NPHP1 NPR2 NR2E3 NR2F1 NRAS NRCAM NRL NSD1 NSD2 NSDHL NSMCE3 NSMF NSRP1 NSUN2 NUDT2 NUP188 NUP88 NXN OBSL1 OFD1 OPHN1 ORC6 OTUD6B P4HTM PACS2 PAH PAICS PAK2 PAK3 PAM16 PARS2 PAX1 PAX3 PBX1 PCARE PCDHGC4 PCLO PCNT PDE4D PDE6A PDE6B PDE6D PDE6G PDGFRB PDHA1 PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PHF21A PIBF1 PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PKDCC PLCB3 PLK4 PLOD1 PLXNA1 PMM2 PNKP POGZ POLA1 POLE POLG2 POLR1A POLR1B POLR1C POLR1D POLR3A POLRMT POMGNT1 POR PORCN POU1F1 PPM1B PPP1R21 PQBP1 PRCD PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCZ PRKD1 PRKDC PRKG2 PRMT7 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PSAT1 PSMC1 PSMD12 PTCH1 PTCH2 PTEN PTH1R PTPN11 PUF60 PUM1 PURA PUS7 PWAR1 PWRN1 QARS1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAF1 RAI1 RALA RALGAPA1 RAPSN RARB RARS2 RB1 RBL2 RBM10 RBP3 RDH12 RECQL RECQL4 REEP6 RELN RERE RFC2 RFX7 RGR RHO RHOA RHOBTB2 RIN2 RIPK4 RIPPLY2 RLBP1 RLIM RMRP RNF13 RNF2 RNU4ATAC ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RSPRY1 RSRC1 RTL1 RTTN RUNX2 RYR1 RYR3 SAG SALL4 SATB2 SC5D SCAPER SCARF2 SCLT1 SCN1A SCN1B SCN2A SCN4A SCNM1 SCO2 SCUBE3 SCYL2 SDCCAG8 SEC23A SEC24C SEMA3E SEMA4A SEMA5A SEPTIN9 SET SETBP1 SETD2 SETD5 SF3B4 SH2B1 SH3PXD2B SHANK3 SHH SHOX SHROOM4 SIK1 SIM1 SIN3A SIX2 SIX3 SKI SKIC2 SKIC3 SLC12A6 SLC18A3 SLC1A4 SLC25A22 SLC25A24 SLC26A2 SLC2A1 SLC32A1 SLC35A2 SLC35C1 SLC39A13 SLC3A1 SLC45A1 SLC5A5 SLC6A1 SLC6A9 SLC7A14 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SMPD4 SMS SNAI2 SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX14 SON SOS1 SOST SOX10 SOX11 SOX18 SOX4 SOX5 SOX6 SOX9 SP7 SPATA5 SPATA5L1 SPATA7 SPECC1L SPEN SPOP SPRED2 SPRTN SPRY4 SPTBN1 SRCAP SRD5A3 STAG1 STAG2 STAT3 STRA6 STRADA STT3A STX16 STX1A SUFU SUMF1 SUPT16H SVBP SYNE1 SYNGAP1 TAC3 TACR3 TAF1 TAF6 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL2 TBX1 TBX2 TBX4 TBX6 TCF20 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENT5A TFAP2A TFAP2B TFE3 TG TGFB3 TGIF1 THSD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM70 TMEM94 TNNI2 TNNT3 TNPO2 TOE1 TOGARAM1 TONSL TOPORS TOR1A TP63 TPM2 TPO TPR TRAPPC9 TRIM32 TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRMT1 TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSHB TSR2 TTC26 TTC8 TUB TUBA1A TUBB TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNL4A UBE2A UBE3B UBE4B UFD1 UGP2 UMPS UNC80 UPF3B UQCC2 USB1 USH2A USP9X VANGL2 VARS1 VDR VPS13B VPS33A VPS35L VPS37D WAC WARS1 WARS2 WASHC5 WDPCP WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WLS WNT5A WNT7A XRCC4 XYLT1 YARS1 ZBTB18 ZBTB20 ZBTB24 ZDHHC9 ZEB2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF292 ZNF335 ZNF408 ZNF423 ZNF513 ZNF526 ZNF699 ZSWIM6 HP_ABNORMAL_NASAL_DORSUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_DORSUM_MORPHOLOGY AASS ABCA12 ADAR ADAT3 ALDH18A1 ALG9 ALX4 AP4M1 APC ARSL ASH1L ASPH ATP6V1E1 ATP7A ATR ATRIP ATRX B9D1 B9D2 BANF1 BMPER BUB1 BUB1B BUB3 C12orf57 CANT1 CASZ1 CAV1 CC2D2A CCDC22 CDON CENPE CENPJ CENPT CEP152 CEP290 CEP55 CEP57 CHRNA1 CHRND CHRNG CLCN3 CNOT3 COG4 COL1A1 COL1A2 COL3A1 CPLX1 CREBBP CSGALNACT1 CSPP1 CTBP1 CTSK DDR2 DISP1 DLL1 DMXL2 DNA2 DONSON DPF2 DZIP1L EBP EDA EDA2R EDAR EDARADD EFEMP2 EFNB1 ELN EP300 ERCC2 ERCC4 ERF EXOSC2 FAM20C FBN1 FBXL4 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FOCAD FOXA2 FOXC1 FOXH1 FOXP2 GABRD GAS1 GFRA1 GH1 GHR GLB1 GLI2 GLI3 GMNN GREB1L GRIP1 HDAC6 HESX1 HNRNPH1 HNRNPK HRAS HSPA9 HSPG2 IFIH1 IGF1 IL11RA IL2RA ITCH ITGA8 JAG1 KCNAB2 KDF1 LBR LEMD2 LETM1 LHX4 LIG4 LMBR1 LMNA LRP4 LSM11 LTBP1 LUZP1 MAN2B1 MBD5 MBTPS2 MEIS2 METTL5 MGAT2 MKS1 MMP23B MN1 MSL3 MTX2 MYH3 NALCN NBN NEK9 NFKBIA NHEJ1 NODAL NRAS NSD2 NUP188 NUP85 OTX2 PAX3 PAX7 PCNT PDE4D PDGFRB PDPN PEPD PEX1 PEX12 PHGDH PIGL PKHD1 PLCH1 PLK4 POLD1 POLR3A POU1F1 PPP2R3C PRDM16 PRKAR1A PRKCZ PRMT7 PROP1 PRPS1 PSAT1 PTCH1 PTF1A PTPN11 PUS1 PYCR1 RBBP8 RECQL RECQL4 RERE RET RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPGRIP1 RPGRIP1L RPL10 RPS19 RUNX2 SAMHD1 SATB2 SCARF2 SHANK3 SHH SIX3 SKI SKIC3 SLC25A24 SLC2A10 SLC35C1 SLC37A4 SMARCA2 SMC1A SNAP29 SOST SOX3 SOX9 SPEN STAG2 STAT5B STIL SUZ12 TBCE TBL1XR1 TBX1 TCTN1 TCTN2 TCTN3 TDGF1 TFAP2B TGIF1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRAF6 TRAIP TREX1 TRIP13 TWIST1 TWIST2 TXNDC15 UBE4B UBR1 VPS13B WDR73 WNT9B WRN XRCC4 ZEB2 ZIC2 ZMPSTE24 ZPR1 HP_ABNORMAL_NASAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MORPHOLOGY AARS1 AASS ABCA12 ABCA4 ABCA5 ABCC8 ABCC9 ABCD1 ABL1 ACAN ACER3 ACOX1 ACP5 ACSL4 ACTB ACTG1 ACTG2 ACTL6B ACVRL1 ACY1 ADA2 ADAMTS10 ADAMTS18 ADAMTS2 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAR ADAT3 ADGRG6 ADNP ADSL AFF2 AFF3 AFF4 AGA AGBL5 AGL AGO1 AGO2 AHDC1 AHI1 AHR AHSG AIFM1 AIMP2 AIP AKT1 AKT3 ALDH18A1 ALDH1A2 ALDH6A1 ALG12 ALG13 ALG2 ALG3 ALG9 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANK1 ANKH ANKRD11 ANKRD17 ANTXR1 AP1S2 AP2M1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSB ARSK ARSL ARVCF ARX ASH1L ASNS ASPH ASXL1 ASXL2 ASXL3 ATAD3A ATIC ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BANF1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCAS3 BCL11A BCL11B BCL7B BCOR BCORL1 BCR BEST1 BICRA BLM BLTP1 BMP2 BMPER BMPR1A BMPR1B BNC2 BPNT2 BPTF BRAF BRCA1 BRCC3 BRD4 BRF1 BRPF1 BTNL2 BUB1 BUB1B BUB3 BUD23 C12orf57 C2CD3 CA4 CACNA1B CACNA1C CACNA1G CAMKMT CAMSAP1 CAMTA1 CANT1 CAPN15 CARS1 CASK CASZ1 CAV1 CBL CBY1 CC2D2A CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCDC8 CCDC88A CCND2 CCNK CCNO CCNQ CD96 CDC42 CDC42BPB CDCA7 CDH11 CDH2 CDHR1 CDK10 CDK13 CDK19 CDK5RAP2 CDKL5 CDKN1C CDON CEACAM3 CEACAM6 CENPE CENPF CENPJ CENPT CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CERKL CERT1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP74 CFTR CHD2 CHD3 CHD5 CHD7 CHD8 CHMP1A CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CILK1 CIT CITED2 CKAP2L CLCA4 CLCF1 CLCN3 CLIC2 CLIP2 CLP1 CLPB CLRN1 CLTCL1 CNGA1 CNGB1 CNOT1 CNOT2 CNOT3 COG1 COG4 COG5 COG6 COG7 COG8 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL27A1 COL2A1 COL3A1 COL5A1 COL9A3 COLEC10 COLEC11 COMT COX4I1 COX7B CPLANE1 CPLX1 CPSF3 CPT2 CRB1 CREBBP CRIPT CRKL CRLF1 CRX CSF1R CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTNNB1 CTNND2 CTSD CTSK CTU2 CUL4B CUL7 CUX1 CWC27 DCAF17 DCHS1 DCPS DCTN4 DDB1 DDB2 DDR2 DDX3X DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHDDS DHPS DHX30 DHX37 DHX38 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLX4 DMXL2 DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DNMT3A DNMT3B DOCK3 DOCK6 DOCK7 DOK7 DONSON DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DRC1 DSE DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP ECE1 ECEL1 ECM1 EDA EDA2R EDAR EDARADD EDEM3 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EHMT1 EIF2AK3 EIF2S3 EIF4A3 EIF4H EIF5A ELN EMG1 ENG EP300 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 ESS2 ETFA ETFB ETFDH EXOC2 EXOSC1 EXOSC2 EXOSC5 EXT1 EXT2 EXTL3 EYA1 EYS EZH2 FAM149B1 FAM161A FAM20C FANCL FAR1 FAT4 FBN1 FBXL3 FBXL4 FBXO28 FBXO31 FCGR2A FDFT1 FGD1 FGF17 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIG4 FKBP6 FLCN FLI1 FLII FLNA FLNB FLT4 FMR1 FOCAD FOXA2 FOXC1 FOXG1 FOXH1 FOXJ1 FOXL2 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 FSCN2 FTO FTSJ1 FUCA1 FUT8 FZD2 G6PC3 GABRA3 GABRD GAD1 GALNT2 GAS1 GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GATAD2B GBA1 GCLC GDF1 GDF11 GDF5 GFRA1 GGCX GH1 GHR GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLIS3 GLUL GMNN GMPPA GNAI1 GNAO1 GNAS GNB2 GNE GNPAT GNPTAB GNRH1 GNRHR GNS GOLGA2 GP1BB GPAA1 GPC3 GPC4 GPC6 GPR101 GPRASP2 GPX4 GREB1L GRIN1 GRIN2A GRIP1 GRM7 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HBA1 HBA2 HBB HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HECW2 HELLS HEPACAM HERC1 HERC2 HES7 HESX1 HFE HGSNAT HIC1 HIRA HIVEP2 HK1 HLA-DRB1 HMGA2 HMOX1 HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXB1 HPDL HRAS HS2ST1 HS6ST1 HSD17B4 HSPA9 HSPG2 HUWE1 HYAL1 HYDIN HYLS1 HYMAI HYOU1 IARS2 IDH3A IDH3B IDS IDUA IER3IP1 IFIH1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IFT88 IGBP1 IGF1 IGF1R IL11RA IL1RAPL1 IL2RA IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IRF6 IRX5 ITCH ITGA3 ITGA8 ITGB6 IYD JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK9 KCNMA1 KCNN3 KCNN4 KCTD1 KDF1 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6A KDM6B KDR KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF15 KIF1A KIF21A KIF7 KIFBP KISS1 KISS1R KIT KIZ KLHL15 KLHL7 KMT2A KMT2B KMT2D KMT5B KNL1 KNSTRN KPTN KRAS KREMEN1 KYNU LAMA5 LARP7 LAS1L LBR LEMD2 LEMD3 LETM1 LFNG LHX3 LHX4 LIFR LIG4 LIMK1 LINS1 LMBR1 LMBRD2 LMNA LMNB1 LMX1B LONP1 LRAT LRP2 LRP4 LRPPRC LRRC56 LSM11 LSS LTBP1 LTBP3 LTBP4 LUZP1 LZTFL1 MAB21L1 MACF1 MADD MAF MAFB MAGEL2 MAK MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS2 MASP1 MBD5 MBTPS2 MCIDAS MCOLN1 MCTP2 MDH1 MDM2 MECP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MERTK MESD MESP2 METTL23 METTL27 METTL5 MGAT2 MGP MIA3 MICU1 MID1 MIF MINPP1 MIPEP MIR140 MITF MKKS MKRN3 MKS1 MLXIPL MMP2 MMP23B MN1 MOCS1 MOCS2 MOGS MPDZ MPLKIP MRAS MRPS14 MSL3 MSX1 MTHFR MTOR MTX2 MUSK MVK MYCN MYH3 MYMK MYMX MYO18B MYOD1 MYRF MYT1L NAA10 NACC1 NAGA NALCN NANS NARS2 NBN NCAPG2 NCF1 NDE1 NDP NDUFB11 NECTIN1 NEDD4L NEK1 NEK10 NEK2 NEK9 NELFA NEPRO NEU1 NEUROD2 NEXMIF NF1 NFASC NFIA NFIB NFIX NFKBIA NGLY1 NHEJ1 NHLH2 NHS NIN NIPBL NKX2-5 NKX2-6 NME5 NME8 NMNAT1 NODAL NOG NONO NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NPR2 NR2E3 NR2F1 NRAS NRCAM NRL NSD1 NSD2 NSDHL NSMCE3 NSMF NSRP1 NSUN2 NUAK2 NUDT2 NUP188 NUP85 NUP88 NXN OBSL1 OCLN ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPHN1 ORC4 ORC6 OTUD6B OTX2 P4HTM PACS1 PACS2 PAFAH1B1 PAH PAICS PAK2 PAK3 PAM16 PARS2 PAX1 PAX3 PAX7 PBX1 PCARE PCDHGC4 PCGF2 PCLO PCNT PDE4D PDE6A PDE6B PDE6D PDE6G PDGFRB PDHA1 PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PHF21A PHF8 PHGDH PHIP PIBF1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PKDCC PKHD1 PLA2G6 PLAA PLAGL1 PLCB3 PLCH1 PLEC PLK4 PLOD1 PLOD3 PLXNA1 PMM2 PNKP POC1A POGZ POLA1 POLD1 POLE POLG2 POLR1A POLR1B POLR1C POLR1D POLR3A POLRMT POMGNT1 POR PORCN POU1F1 POU4F1 PPM1B PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRCD PRDM16 PREPL PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKD1 PRKDC PRKG2 PRMT7 PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRX1 PSAT1 PSMB8 PSMC1 PSMD12 PTCH1 PTCH2 PTEN PTF1A PTGER2 PTH1R PTPN11 PTPRF PUF60 PUM1 PURA PUS1 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QARS1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAF1 RAI1 RALA RALGAPA1 RAPSN RARB RARS2 RB1 RBBP8 RBL2 RBM10 RBM8A RBMX RBP3 RDH11 RDH12 RECQL RECQL4 REEP6 RELN RERE RET RFC2 RFX7 RGR RHO RHOA RHOBTB2 RIC1 RIN2 RIPK4 RIPPLY2 RLBP1 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNF125 RNF13 RNF135 RNF2 RNU4ATAC RNU7-1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RSRC1 RTL1 RTTN RUNX2 RUSC2 RYR1 RYR3 SAG SALL4 SAMHD1 SATB2 SC5D SCAPER SCARF2 SCLT1 SCN1A SCN1B SCN2A SCN4A SCNM1 SCO2 SCUBE3 SCYL2 SDCCAG8 SEC23A SEC24C SEMA3E SEMA4A SEMA5A SEPTIN9 SERPINA1 SET SETBP1 SETD1A SETD2 SETD5 SF3B4 SH2B1 SH3PXD2B SHANK3 SHH SHOC2 SHOX SHROOM4 SIK1 SIM1 SIN3A SIX2 SIX3 SKI SKIC2 SKIC3 SLC11A1 SLC12A6 SLC17A5 SLC18A3 SLC1A4 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC26A9 SLC29A3 SLC2A1 SLC2A10 SLC32A1 SLC35A2 SLC35C1 SLC35D1 SLC37A4 SLC39A13 SLC3A1 SLC45A1 SLC5A5 SLC6A1 SLC6A14 SLC6A9 SLC7A14 SLC9A3 SLC9A6 SLF2 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMG9 SMO SMOC1 SMPD4 SMS SNAI2 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX14 SON SOS1 SOST SOX10 SOX11 SOX18 SOX3 SOX4 SOX5 SOX6 SOX9 SP7 SPAG1 SPART SPATA5 SPATA5L1 SPATA7 SPECC1L SPEF2 SPEN SPOP SPRED2 SPRTN SPRY4 SPTBN1 SRCAP SRD5A3 STAG1 STAG2 STAMBP STAT3 STAT5B STIL STIM1 STING1 STK11 STK36 STRA6 STRADA STT3A STX16 STX1A STXBP1 SUFU SUMF1 SUPT16H SUZ12 SVBP SYNE1 SYNGAP1 SYT1 TAB2 TAC3 TACR3 TAF1 TAF6 TALDO1 TAOK1 TAP1 TAP2 TAPBP TAPT1 TASP1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX2 TBX21 TBX4 TBX6 TCF20 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENT5A TFAP2A TFAP2B TFE3 TG TGDS TGFB1 TGFB3 TGIF1 THOC6 THSD1 THUMPD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM70 TMEM94 TMLHE TNNI2 TNNT3 TNPO2 TOE1 TOGARAM1 TONSL TOPORS TOR1A TP63 TPM2 TPO TPR TRAF6 TRAIP TRAPPC9 TREX1 TRIM32 TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRIP13 TRMT1 TRMT10A TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSHB TSPEAR TSR2 TTC12 TTC26 TTC5 TTC8 TTI2 TUB TUBA1A TUBB TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBE2A UBE3B UBE4B UBR1 UFC1 UFD1 UGP2 UMPS UNC119 UNC80 UPF3B UQCC2 USB1 USH1G USH2A USP9X VAC14 VANGL2 VARS1 VDR VPS13B VPS33A VPS35L VPS37D VPS51 VPS53 WAC WARS1 WARS2 WASHC4 WASHC5 WBP11 WDPCP WDR11 WDR19 WDR26 WDR35 WDR37 WDR4 WDR62 WDR73 WLS WNT3 WNT5A WNT7A WNT9B WRN WWOX XPA XPC XRCC4 XYLT1 YARS1 YARS2 YWHAE YY1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF292 ZNF335 ZNF341 ZNF408 ZNF423 ZNF462 ZNF513 ZNF526 ZNF668 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY ACVRL1 BTNL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP74 CFTR CLCA4 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 ECM1 EDNRA ENG FCGR2A FOXJ1 GAS2L2 GAS8 GCLC GSTM3 HFE HLA-DRB1 HMOX1 HYDIN KCNN4 LRRC56 MCIDAS MIF NEK10 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PTGER2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SPAG1 SPEF2 STK11 STK36 STX1A TAP1 TAP2 TAPBP TBX21 TGFB1 TTC12 UNC119 ZMYND10 HP_ABNORMAL_NASAL_SEPTUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_SEPTUM_MORPHOLOGY ARSL ATP6V1B2 CREBBP EP300 EXOSC5 FGFR2 FLNB IRF6 MSX1 MYMX NECTIN1 NF1 NOG NONO PAH PTCH1 RPS6KA3 SIX3 STING1 TFAP2A TGIF1 TP63 UBA1 HP_ABNORMAL_NASAL_SKELETON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_SKELETON_MORPHOLOGY ALX4 BRAF CTNNB1 PDGFRB PPP1R12A PTCH1 SIX3 SLC25A24 TGIF1 TONSL UBA1 USH1G HP_ABNORMAL_NASAL_TIP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_TIP_MORPHOLOGY ABCA5 ABCC9 ACTB ACTG1 ACTL6B ADAMTS18 ADNP AFF3 AGL AGO1 AIFM1 ALDH1A2 ALDH6A1 ALG3 ALX3 ALX4 AP4B1 AP4E1 AP4M1 AP4S1 APC ARID1A ARID1B ARID2 ARSL ARVCF ASNS ASXL2 ASXL3 ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX AUTS2 BCL11A BCOR BICRA BPTF BRAF C2CD3 CAMTA1 CASK CCDC47 CCDC8 CCNK CCNQ CDC42 CDC42BPB CDH11 CDK10 CDK13 CDK19 CENPJ CEP55 CEP57 CHD5 CHRNA7 CILK1 CIT CLCN3 CLIC2 CLP1 CLPB COG4 COG6 COL11A2 COL18A1 COL1A2 COLEC11 COMT CPLANE1 CPLX1 CPT2 CSF1R CSGALNACT1 CTCF CTNNB1 CUL4B CUL7 CUX1 DDX3X DGCR2 DGCR6 DGCR8 DLX4 DOCK6 DOCK7 DPF2 DPYD DYNC1I2 DYRK1A EBF3 EBP ECE1 ECEL1 EDEM3 EFEMP2 EFNB1 EIF2S3 EIF5A ELN EPG5 ESS2 EXOC2 EXOSC2 EXT1 EXT2 EXTL3 FAM149B1 FANCL FBN1 FBXL3 FBXO28 FBXO31 FLCN FLNA FLNB FMR1 FOXG1 FOXP1 FRA10AC1 FREM1 FRMPD4 FZD2 GATAD2B GJA5 GJA8 GLB1 GP1BB GPAA1 H4C3 H4C5 HDAC4 HDAC8 HECW2 HIRA HK1 HNRNPK HRAS HS2ST1 HSPA9 HUWE1 IDUA IGF1R INTS1 JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6A KAT6B KATNB1 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK9 KCNMA1 KCNN3 KDM1A KDM3B KDM4B KDM5B KDM6A KIAA0753 KIF11 KIF15 KIF7 KIFBP KMT2A KMT2B KMT2D KNSTRN KPTN LAS1L LMNA LMX1B LRP2 LTBP1 LTBP3 MADD MAN1B1 MAP3K7 MAPKAPK5 MBD5 MCTP2 MED12 MED12L MED13L MED25 MESD METTL5 MIPEP MLXIPL MMP2 MPDZ MRAS MTX2 MUSK MYCN MYMK MYO18B NAA10 NACC1 NANS NHEJ1 NRAS NSD1 NXN OBSL1 ODC1 OFD1 PACS1 PCGF2 PDE4D PDE6D PGAP2 PGAP3 PGM2L1 PHF21A PHF8 PHIP PIGL PIGO PIGQ PIGV PIGW PIGY PIK3CD POC1A POGZ POR PORCN POU4F1 PPP2CA PPP3CA PQBP1 PRIM1 PRKACA PRKACB PRKAR1A PRKAR1B PRMT7 PTCH1 PTPRF PUF60 PURA PYCR1 PYCR2 QRICH1 RAB3GAP1 RAB3GAP2 RAD21 RARB RBMX RERE RFX7 RHOBTB2 RNF135 RNU4ATAC RPS6KA3 RREB1 RUSC2 RYR1 SATB2 SC5D SCNM1 SCYL2 SEC24C SET SETBP1 SETD2 SETD5 SH3PXD2B SHANK3 SIM1 SIN3A SIX2 SLC25A46 SLC35C1 SLX4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SMC5 SMG8 SMG9 SMPD4 SMS SNIP1 SNRPN SNX14 SOX11 SOX4 SOX5 SPEN SPOP SPRTN SPTBN1 SRCAP SRD5A3 STAG2 STXBP1 SUPT16H SYT1 TAF1 TBC1D23 TBC1D24 TBCK TBL1XR1 TBX1 TBX2 TBX4 TCF20 TCF4 TCTN3 TFAP2A TFAP2B TGFB3 TGIF1 TLK2 TMEM216 TMEM231 TOE1 TONSL TOPORS TP63 TPR TRIO TRPM3 TRPS1 TRRAP TUBGCP2 TWIST1 TWIST2 UFD1 UNC80 USP9X WAC WASHC4 WDR26 WDR62 XRCC4 YY1 ZBTB20 ZEB2 ZMPSTE24 ZMYM2 ZNF292 ZSWIM6 HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY BCL10 BIRC3 BTNL2 CD151 COL3A1 COX7B CREBBP EP300 EYA1 FGF10 FGFR1 FGFR2 FGFR3 FOXL2 FOXP1 FRAS1 FREM1 FREM2 GJB2 GJB6 GRIP1 HCCS HLA-DRB1 HMX1 IGSF3 KAT6A KAT6B KIF11 KMT2D KNSTRN KRAS LEMD3 MALT1 MBTPS2 MED12 MEGF8 NDUFB11 NHP2 NOP10 PAX1 PAX3 PEX1 PEX6 PIK3CD PPP1CB PPP2R3C PRMT7 PRR12 PTDSS1 SATB2 SIX1 SIX5 SLC25A24 SMC3 SMC5 SMCHD1 SOX10 SOX6 SPRED2 TAF1 TCOF1 TET3 TFAP2A TGDS TP63 TRRAP TWIST1 UBR1 USB1 YY1 HP_ABNORMAL_NASOPHARYNX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASOPHARYNX_MORPHOLOGY ACP5 ADA ADA2 ADNP AICDA ALG12 ALMS1 ARHGEF1 ARID1A ARID1B ARID2 ARSB ASAH1 ATM BLM BTK C4B CARMIL2 CCDC65 CD19 CD4 CD79A CD79B CD81 CFAP298 CFAP74 CFI CIITA COG4 COL5A1 COL5A2 CORO1A CR2 CREBBP CTLA4 CXCR4 DCLRE1C DNAAF1 DNAAF11 DNAAF2 DNAAF4 DNAAF5 DNAAF6 DNAH5 DNAI1 DNAI2 DNAJB13 DOCK8 DPF2 DPP9 DYM EGFR EP300 FCGR3A FCHO1 FOXJ1 FOXN1 FOXP1 G6PC3 GALNS GAS2L2 GAS8 GJA1 GLB1 GLI3 GNPTAB GNS GUSB HCK HGSNAT HLA-B HLA-DRB1 HPS6 HYDIN HYOU1 ICOS IDS IFIH1 IGHG2 IGHM IGKC IKBKB IKBKG IL10RB IL17RA IL21R IL2RG IL6R IL6ST IL7R IRF2BP2 IVNS1ABP JAK3 KATNIP KDM5C KRT5 LCK LEP LEPR LRBA MAGT1 MBTPS2 MCIDAS MDFIC MDM4 MGAT2 MGP MID1 MS4A1 MST1R MYSM1 NAGLU NBN NCF4 NEK10 NFIX NFKB1 NFKB2 NFKBIA NME5 NME8 ODAD1 ODAD2 OFD1 P4HA2 PDE11A PHIP PIK3CD PIK3R1 PLG PLVAP PNP POLE PRKAR1A PRKCD PRPS1 PSMB8 PTEN PTPN22 RAC2 RAG1 RAG2 RELB RFX5 RFX7 RFXANK RFXAP RNF168 RPGR RSPH1 RSPH4A RSPRY1 SALL4 SASH3 SCNN1A SCNN1B SCNN1G SETBP1 SGSH SH2D1A SH3KBP1 SHH SLC29A3 SLC37A4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX9 SPAG1 SPI1 STAT1 STAT3 STK11 STK36 STK4 STX3 STXBP2 TAFAZZIN TAP1 TAP2 TAPBP TBC1D24 TBX1 TMCO1 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF12 TOM1 TP53 TP63 UNC119 UNG UQCRH USB1 USP26 USP9X WAS XIAP ZAP70 ZBTB24 ZBTB7A ZMYND10 ZNF341 HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY AP3B1 B2M CARD9 CD3D CD3E CD70 DCLRE1B DNMT3B DOCK8 ELF4 FCGR3A GATA2 GINS1 IKBKB IL2RG IL6ST IRAK4 JAK3 KNSTRN LAT LYST MCM10 MCM4 MYD88 NLRC4 PGM3 PIK3CD PIK3CG PIK3R1 PRKDC PTPRC RAG1 RAG2 RIPK1 SASH3 SP110 SYK TOM1 ZAP70 HP_ABNORMAL_NEPHRON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEPHRON_MORPHOLOGY ACE ACP5 ACSL4 ACTN4 ADA AGT AGTR1 ALMS1 AMMECR1 ANKFY1 ANLN ANTXR1 APOE APOL1 ARHGAP24 ARHGDIA AVIL BANK1 BAZ1B BCL7B BCS1L BLK BSND BTNL2 BUD23 C1QA C3 C4A C4B CASP10 CCR1 CD151 CD2AP CD81 CEP83 CFH CFHR5 CFI CLCN5 CLCNKB CLIP2 COL4A3 COL4A4 COL4A5 COL7A1 COPA COQ2 COQ6 COQ8B CPT2 CR2 CRB2 CTLA4 CTNS DAAM2 DCDC2 DGKE DLST DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPH1 DPH2 EIF4H ELN ELP1 EMP2 EPAS1 ERAP1 ETS1 FAH FAN1 FAS FASLG FCGR2A FCGR2B FCGR3B FH FKBP6 FN1 FOXC2 FOXP3 G6PC1 GAPVD1 GATA3 GBE1 GLA GLIS2 GON7 GTF2I GTF2IRD1 GTF2IRD2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNF1B IFNGR1 IFT122 IGHG1 IL10 IL12A IL12A-AS1 IL23R INF2 INVS IRAK1 IRF5 ITGA3 ITGAM ITGB4 JAG1 JAK1 JAZF1 KANK2 KCNE5 KCNJ1 KIAA0319L KIF1B KIRREL1 KLRC4 LAGE3 LAMA3 LAMA5 LAMB2 LAMB3 LAMC2 LIMK1 LMNA LMNB2 LMX1B LPIN2 MAGI2 MAX MDH2 MECP2 MEFV METTL27 MLXIPL MMACHC MME MMP1 MMUT MRPL3 MRPS22 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTRR MTX2 MUC1 MYO1E MYOCD NAA10 NARS2 NCF1 NDUFAF6 NF1 NOS1AP NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OSGEP PAX2 PBX1 PDCD1 PGM3 PKHD1 PLCE1 PLEC PMM2 PRKCD PRTN3 PTPN22 PTPRO PUS3 PXK RASGRP1 REN RET RFC2 RNU7-1 RPGRIP1L SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC61A1 SGPL1 SHPK SLC12A1 SLC12A3 SLC22A12 SLC25A11 SLC2A9 SLC30A9 SLC37A4 SLC41A1 SLC7A7 SMARCAL1 SOCS1 SOX18 SPP1 SPRY2 STAT4 STX1A TBC1D8B TBL2 TLR4 TLR7 TMEM127 TMEM270 TMEM67 TNFAIP3 TNFSF4 TNIP1 TP53RK TPRKB TRAF3IP1 TREX1 TRIM8 TRPC6 TULP3 UBAC2 UBE2L3 UMOD VHL VPS33A VPS33B VPS37D WAS WDR19 WDR4 WDR73 WIPF1 WT1 XPNPEP3 YRDC ZAP70 ZNFX1 HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY AARS1 ABHD12 AIFM1 ARHGEF10 ARSA ATP11A ATP7B ATXN1 ATXN10 BSCL2 CCT5 CHCHD10 CNTNAP1 CTDP1 CYP27A1 DCAF8 DEGS1 DHX16 DNAJC3 DNM2 EGR2 ERCC3 ERCC6 ERCC8 FBLN5 FBN1 FBXO38 FGD4 FIG4 FLVCR1 FXN GALC GARS1 GDAP1 GFM2 GJB1 GJC2 HK1 HPDL HSD17B4 HSPB1 HYCC1 IDUA IGHMBP2 ITPR3 JPH1 KIF1A KIF1B LAMA2 LIG3 LITAF LMNA LRSAM1 LTBP3 LYST MATR3 MED25 MEGF10 MFF MFN2 MORC2 MPZ MTMR2 MTRFR MYH14 NALCN NDRG1 NEFL NEU1 NFASC NGLY1 NOTCH2NLC PDK3 PEX6 PLA2G6 PLEKHG5 PLP1 PMP22 PNKP PNPT1 POLG PRDX3 PRPS1 PRX PSAP PTRH2 RAB7A RAI1 REEP1 RETREG1 RRM2B SACS SAMD9L SBF1 SBF2 SCN9A SCP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC25A15 SLC5A7 SORD SOX10 SPTLC1 SPTLC2 SUCLA2 TBC1D20 TDP1 TPI1 TRIM2 TYMP UQCRC1 VCP WNK1 YARS1 YME1L1 HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY AARS1 AARS2 AASS ABAT ABCA5 ABCC8 ABCD1 ABHD12 ACOX1 ACTL6B ADARB1 ADGRG1 ADGRV1 ADK ADRA2B AFG3L2 AGRN AHDC1 AHSG AIFM1 AIMP1 AIMP2 AKT3 ALDH4A1 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG13 ALG14 ALG2 ALG3 ALS2 AMT ANKRD11 ANKRD17 ANTXR1 AP1S2 AP2M1 AP3B2 AP3D1 APC2 APOL2 APOL4 ARFGEF1 ARFGEF2 ARG1 ARHGAP31 ARHGEF10 ARHGEF2 ARHGEF9 ARSA ARV1 ARX ASL ASNS ASPA ATAD1 ATL1 ATL3 ATN1 ATP10A ATP11A ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATP7B ATXN1 ATXN10 B3GALNT2 BCS1L BRAF BRAT1 BSCL2 C1QBP CABP4 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1H CACNA1S CACNA2D1 CACNB4 CADM3 CAMK2A CAMSAP1 CARS2 CASK CASZ1 CCDC47 CCDC88A CCT5 CDK19 CDK5 CDKL5 CELF2 CEP126 CEP85L CERS1 CHAT CHCHD10 CHD2 CHI3L1 CHMP2B CHRNA2 CHRNA4 CHRNB2 CILK1 CLCN2 CLCN4 CLCN6 CLN5 CLN6 CLN8 CLTC CLTCL1 CLTRN CNKSR2 CNPY3 CNTN2 CNTNAP1 CNTNAP2 COL13A1 COMT COX16 COX4I1 CPA6 CPLANE1 CPLX1 CPT1C CREBBP CRH CRPPA CSTB CTBP1 CTDP1 CTNNA2 CTNND2 CUL3 CUL4B CUX2 CYFIP2 CYP27A1 D2HGDH DAG1 DALRD3 DAOA DCAF8 DCX DDB2 DEAF1 DEGS1 DENND5A DEPDC5 DHDDS DHH DHPS DHX16 DIAPH3 DLL4 DMXL2 DNAJB6 DNAJC3 DNM1 DNM2 DOCK6 DOCK7 DOLK DPAGT1 DPM1 DPM2 DPYD DRD3 EBP EDNRB EEF1A2 EFHC1 EGR2 EIF2S3 EMC1 EMILIN1 EOGT EP300 EPG5 EPM2A ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD EXOC8 FARS2 FBLN5 FBN1 FBXO28 FBXO38 FDXR FGD4 FGF12 FGF13 FGFRL1 FIG4 FKRP FKTN FLCN FLII FLNC FLVCR1 FOXG1 FOXP1 FRRS1L FXN FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GALC GARS1 GDAP1 GFM2 GJB1 GJC2 GLS GLUD1 GLYCTK GMPPB GNAO1 GNB1 GNB2 GNB5 GOLGA2 GON7 GOSR2 GPAA1 GRIA1 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GRN GUF1 HCFC1 HCN1 HECW2 HIBCH HIC1 HID1 HIKESHI HK1 HMGCL HNRNPU HPDL HRAS HSD17B4 HSPB1 HSPB8 HSPG2 HTR2A HYCC1 IARS2 IDUA IER3IP1 IGHMBP2 IQSEC2 IREB2 ITGB6 ITPR3 JPH1 JRK KANSL1 KARS1 KCNA1 KCNA2 KCNAB2 KCNB1 KCNC1 KCNC2 KCNH1 KCNJ11 KCNJ18 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KCTD7 KDM6A KIF1A KIF1B KMT2D KPNA3 KPTN KRAS LAGE3 LAMA2 LAMC3 LARGE1 LARS2 LETM1 LGI1 LIG3 LIPT2 LITAF LMNA LMNB1 LONP1 LRPPRC LRSAM1 LSS LTBP3 LUZP1 LYST MADD MAF MAP1B MAP2K1 MAP2K2 MAPK10 MAPT MARCHF6 MATR3 MCOLN1 MDH1 MECP2 MED13L MED17 MED25 MEGF10 MFF MFN2 MFSD8 MGAT2 MMP23B MOGS MORC2 MPDU1 MPV17 MPZ MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTHFS MTMR2 MTOR MTRFR MYD88 MYH14 MYH3 MYO9A NACC1 NALCN NARS2 NAXD NBEA NDP NDRG1 NDUFA9 NDUFAF8 NECAP1 NECTIN1 NEDD4L NEFL NEU1 NEUROD2 NEXMIF NF1 NFASC NGLY1 NHLRC1 NLGN3 NLGN4X NLRP3 NMNAT1 NOTCH1 NOTCH2NLC NPRL2 NPRL3 NRAS NSD2 NSF NSRP1 NTNG1 NTNG2 NTRK1 NTRK2 NUP107 NUP133 NUP188 NUS1 OCA2 OCRL OGDHL OPA1 OSGEP OTOF P4HTM PACS2 PAFAH1B1 PARS2 PCDH12 PCDH19 PCK1 PDE2A PDHA1 PDK3 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHACTR1 PHF6 PHGDH PI4KA PIDD1 PIGA PIGG PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3CA PLA2G6 PLAA PLCB1 PLCH1 PLEKHG5 PLP1 PLPBP PMP2 PMP22 PNKP PNPO PNPT1 POGZ POLG POMGNT1 POMT1 POMT2 PPFIBP1 PPP3CA PPT1 PRDM16 PRDX3 PRICKLE1 PRKAG2 PRKCZ PRNP PRODH PRPS1 PRRT2 PRUNE1 PRX PSAP PSAT1 PSEN1 PTPN23 PTRH2 PTS PURA RAB7A RAI1 RBPJ REEP1 RELN RERE RETREG1 RFC1 RIPOR2 RMRP RNF13 ROGDI RPL10 RRM2B RTN2 RTN4R RTTN RUSC2 SACS SAMD12 SAMD9L SATB1 SBF1 SBF2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCP2 SEMA6B SETBP1 SETD1B SETX SH3TC2 SHQ1 SIGMAR1 SIK1 SKI SLC12A5 SLC12A6 SLC13A5 SLC18A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A10 SLC25A15 SLC25A22 SLC25A46 SLC2A1 SLC32A1 SLC33A1 SLC35A2 SLC38A3 SLC39A8 SLC44A1 SLC5A7 SLC6A1 SLC6A19 SLC9A6 SMC1A SMS SNAP25 SNAP29 SNIP1 SNRPN SORD SOX10 SPATA5 SPEN SPG21 SPTAN1 SPTBN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRPX2 ST3GAL3 ST3GAL5 STARD7 STRADA STUB1 STX1B STXBP1 SUCLA2 SUMF1 SUOX SYN2 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TBC1D20 TBC1D24 TBC1D2B TBCK TBK1 TBL1XR1 TDP1 TET3 TFE3 TFG TGFB1 TICAM1 TIMM50 TIMM8A TLR3 TMEM106B TP53RK TPI1 TPP1 TPRKB TRAF3 TRAK1 TRAPPC11 TRAPPC12 TREM2 TRIM2 TRIM8 TRIT1 TRPM3 TRPV4 TTPA TUBB2A TUBGCP2 TYMP TYROBP UBA1 UBA5 UBAP1 UBE3A UBE4B UBTF UFC1 UGDH UNC80 UNC93B1 UPB1 UQCRC1 VAMP1 VAMP2 VARS1 VARS2 VCP VPS13A WASHC5 WDR4 WDR45 WDR62 WDR73 WNK1 WWOX XPA XPC YARS1 YEATS2 YME1L1 YRDC YWHAE YWHAG ZEB2 ZNF148 ZNF526 ZNHIT3 HP_ABNORMAL_NEURON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEURON_MORPHOLOGY AGTPBP1 AKT3 ALDH18A1 ALS2 ANG ANXA11 ASAH1 ATXN2 ATXN3 C19orf12 C9orf72 CCNF CEP126 CEP55 CFAP410 CHCHD10 CHMP2B CNTNAP2 CPLANE1 CYLD DAO DCTN1 EPHA4 ERBB4 ERLIN2 EXOSC3 EXOSC8 EXOSC9 FIG4 FUS GBE1 GLE1 GLT8D1 GRN HNRNPA1 HNRNPA2B1 IGHMBP2 KIF5A MAPT MATR3 MTOR NEFH NEK1 OPTN PFN1 PIK3CA PLEKHG5 PNPLA6 PON1 PON2 PON3 PPARGC1A PRKAR1B PRPH PSEN1 RBM28 SETX SIGMAR1 SLC25A46 SMN1 SMN2 SOD1 SPG11 SPG7 SPTLC1 SQSTM1 TAF15 TARDBP TBK1 TFG TIA1 TMEM106B TREM2 TRPM7 TUBA4A TYROBP UBA1 UBQLN2 UNC13A VAPB VCP VPS13D VPS41 VRK1 ZNF335 HP_ABNORMAL_NEUTROPHIL_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEUTROPHIL_COUNT AARS1 ABCD4 ACP5 ADA2 AGA AMN ANAPC1 AP3B1 AP3D1 ASXL1 ATRX BCOR BLNK BTK CAMK2B CARS1 CASP10 CBL CD40 CD40LG CD79A CD79B CDC40 CEBPE CIITA CLPB COG4 CSF3R CTLA4 CUBN CXCR2 CXCR4 DIAPH1 DNAJC21 EFL1 EIF2AK3 ELANE EPG5 ERCC2 ERCC3 ETV6 FANCA FANCC FANCD2 FANCE FANCG FANCI FAS FASLG FBXL4 FBXW7 FCGR3B FDX2 FIBP FIP1L1 FMO3 FNIP1 FOXP3 FUT8 G6PC3 GATA1 GATA2 GFI1 GINS1 GSS GTF2E2 GTF2H5 HAX1 HEATR3 HSCB HTRA2 ICOS IFNG IGHM IGLL1 IKBKG IL1RN IL36RN IL6ST IL7R IRAK4 IRF2BP2 IRF8 ITCH JAGN1 KIT KRAS LAMTOR2 LBR LMBRD1 LRBA LRRC8A LYST MAD2L2 MDM4 MECOM MEFV MMAA MMAB MMACHC MMUT MPLKIP MSN MTRR MVK MYSM1 NABP1 NCAPG2 NDUFA6 NPM1 NRAS NUMA1 OTULIN PACS2 PCCA PCCB PGM3 PIK3CD PIK3CG PIK3R1 PML PNP PPIL1 PRDX1 PRF1 PRKAR1A PRKCD RAB27A RAC2 RAG1 RARA RASGRP1 RECQL4 RELB RFX5 RFXANK RFXAP RMRP RNF113A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SASH3 SBDS SEC61A1 SF3B1 SH2D1A SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SMARCAL1 SMARCD2 SPI1 SRP19 SRP54 SRSF2 STAT1 STAT3 STAT5B STK4 STX11 STXBP2 TAFAZZIN TARS1 TBK1 TBL1XR1 TCF3 TCIRG1 TCN2 TDP2 TERC TERT TET2 TFR2 TFRC TICAM1 TLR3 TLR8 TOM1 TONSL TPP2 TRAC TRAF3 TSR2 UBE2A UNC13D UNC93B1 USB1 VPS13B VPS33A VPS45 WAS WDR1 WIPF1 XIAP ZBTB16 ZNFX1 HP_ABNORMAL_NIPPLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NIPPLE_MORPHOLOGY AARS1 ABCD4 ACOX1 ACTB ADNP ALG11 ALG12 ALG14 ALG2 ALG3 ALG8 ALG9 AMER1 AMMECR1 ANTXR1 ARCN1 ARHGAP31 ARHGEF2 ASH1L ASXL1 ASXL3 ATN1 B3GLCT B4GALT1 BICRA BRAF BRD4 C18orf32 CACNA1C CARS1 CBL CCDC22 CCDC47 CDH11 CDH2 CDK13 CERT1 CHAMP1 CHD7 CHRNG CHST3 CILK1 CKAP2L COG1 COG7 COLEC10 COLEC11 COX7B CPLX1 CPT2 CSPP1 CTBP1 DDX6 DEF6 DHCR7 DHODH DLK1 DPAGT1 DPM1 DPYSL5 DUSP6 EBF3 EDA EDARADD EED EFNB1 ERCC2 ERCC3 ERCC6 ERMARD EXOC2 EZH2 FAT4 FGF17 FGF8 FGFR1 FIG4 FRAS1 FREM2 GATA4 GDF11 GNB2 GNE GNPTAB GNRH1 GNRHR GPC3 GPC4 GRIP1 GTF2E2 GTF2H5 H3-3A H4C9 HDAC4 HDAC8 HNRNPK HS2ST1 HS6ST1 IBA57 IDH1 IGF1R IKBKG INSR INTU JARID2 KANSL1 KAT6A KATNB1 KCTD1 KDM1A KDM5B KDM6B KIAA0586 KIF15 KIFBP KISS1 KISS1R KMT2B KMT2D KNSTRN KRAS KRT10 LAMA5 LBR LETM1 LZTR1 MAB21L1 MADD MAN1B1 MAP2K1 MAPRE2 MASP1 MDH2 MEG3 MEGF8 MGAT2 MPLKIP MRAS NECTIN1 NELFA NF1 NFIX NHLH2 NIPBL NONO NRAS NSD2 NSMF NUP188 PACS1 PEX2 PEX3 PGAP2 PGAP3 PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3CD PMM2 PNPLA6 PORCN PPP1CB PPP2R5D PROK2 PROKR2 PSAT1 PTPN11 PTPRF RAB18 RAB3GAP2 RAD21 RAF1 RASA2 RERE RFT1 RIPK4 RIT1 RNF113A RNF216 RRAS RRAS2 RSPO2 RTL1 SET SETBP1 SLC25A24 SLC25A46 SLC35A2 SMARCA2 SMC1A SMC3 SMPD4 SMS SOS1 SOS2 SOX6 SPRED2 SPRY4 SRD5A3 SRY STAG1 STT3A TAC3 TACR3 TARS1 TBL1XR1 TBX3 TCF20 TCF4 TFAP2A TFAP2B TIMM50 TMCO1 TMEM94 TNRC6B TOGARAM1 TP63 TRAF7 TRRAP TTC5 TUBB TWIST2 UBA2 UBE2A UBR1 USP9X VAC14 VPS35L WAC WASF1 WASHC5 WDR11 WDR19 WDR37 WLS WNT3 WNT7A ZC4H2 ZEB2 ZMYND11 ZNF148 HP_ABNORMAL_NONVERBAL_COMMUNICATIVE_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NONVERBAL_COMMUNICATIVE_BEHAVIOR ADAM22 ADCY5 ADNP ADSL AGTPBP1 ALG13 ALG2 AP3B2 ARFGEF2 ARX ATP1A2 CACNA2D2 CAMK2B CDKL5 CHD8 CLP1 CNTNAP1 CNTNAP2 COX10 CUX2 DEAF1 DLK1 DOCK7 DOLK FLCN FMR1 FOXG1 FOXRED1 FRMPD4 GABBR2 GABRA2 GALNT2 GFM1 GFM2 GLS GNB5 GPHN GRIA3 GRIN1 GRIN2B GUF1 IREB2 KCNT1 KMT5B MBD5 MDH2 MECP2 MEF2C MEG3 MFF MICOS13 MT-ND1 MT-ND2 MT-ND3 NALCN NDE1 NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD2 NEXMIF NHLRC2 NLGN3 NLGN4X NTNG1 NTRK2 NUBPL OPHN1 PIGP POLA1 PUF60 RAB11B RARS1 RTL1 SHANK3 SLC13A5 SLC25A1 SLC25A12 SMC1A SNRPN SPATA5 SPEN SPTBN1 ST3GAL3 SYT1 TARS2 TBC1D23 TIMMDC1 TMEM126B TMEM163 TRIM8 TWNK UBA5 UGP2 HP_ABNORMAL_NUMBER_OF_DENSE_GRANULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_DENSE_GRANULES AP3B1 BLOC1S5 HPS3 HPS4 HPS5 IKZF5 HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS ADA2 CBLIF CDAN1 CDIN1 CTLA4 EPO ERBB3 G6PC3 GATA1 GLRX5 HBB HEATR3 KLF1 LARS2 LPIN2 PGK1 PIGA PKLR PNP PUS1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SF3B1 SLC11A2 TCN2 TET2 TP53 TSR2 UROD UROS HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS ASXL1 CSF3R IRF8 KIT RPL18 RPL26 SF3B1 SRSF2 TET2 HP_ABNORMAL_NUMBER_OF_INCISORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_INCISORS ANKRD11 ARHGAP29 ARHGEF38 AXIN2 B3GLCT BCOR BLM BMP4 CDC42BPB CDH1 CDH11 CDON CNOT1 COBLL1 DISP1 DLG1 DLL1 DLX3 DLX4 EDA EDARADD EIF4A3 ERCC3 EVC EVC2 FGF8 FGFR1 FOXH1 GAS1 GLI2 IRF6 LRP6 MID1 MSX1 NAA10 NECTIN1 NEK1 NHS NODAL PAX9 PDGFRA PLCH1 PTCH1 RIC1 RIPK4 SHH SIX3 SMAD2 SMC1A STAG2 STIL SUFU SUMO1 TDGF1 TGFA TGIF1 TP63 WNT10A WNT10B ZIC2 HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH ARHGAP29 ARHGEF38 BMP4 C1R C1S CDH1 COBLL1 CREBBP DLG1 DLX4 DVL3 EP300 GNB2 IRF6 KCTD1 LRP6 MESD MSX1 NECTIN1 OFD1 PDGFRA RAB23 RAD51 RECQL4 RIC1 RIPK4 SATB2 TP63 UBR1 WDR35 WNT10A HP_ABNORMAL_NUMBER_OF_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_TEETH AARS1 ACOX1 ACSL4 ACTL6B ADAMTS2 ADAMTS3 ADNP AKT1 ALMS1 AMMECR1 ANAPC1 ANKRD11 ANOS1 AP3B2 APC APC2 ARHGAP29 ARHGEF38 ARL6 ARV1 ATP1A2 ATP1A3 ATP6V1A ATP6V1B2 ATR ATRIP AXIN2 B3GLCT BAZ1B BBS1 BCL11B BCL7B BCOR BLM BMP4 BUD23 C1R C1S C2CD3 CACNA1A CACNA1B CACNA2D1 CAMTA1 CBFB CCBE1 CCDC141 CCDC28B CDC42BPB CDH1 CDH11 CDH3 CDK19 CDON CELF2 CENPE CENPJ CEP152 CEP85L CFAP418 CHD7 CHSY1 CKAP2L CLDN1 CLIP2 CLTC CNKSR2 CNOT1 COBLL1 COL9A2 CPLX1 CREB3L1 CREBBP CTBP1 CTC1 CTNND1 CTSC CTSK CUX1 CYFIP2 DALRD3 DCAF17 DCC DDX59 DHCR7 DHDDS DHX37 DISP1 DKC1 DLG1 DLL1 DLX3 DLX4 DNA2 DNAJC21 DNAJC30 DNM1 DPP6 DSP DUSP6 DVL1 DVL3 DYNC2LI1 DYRK1A EDA EDAR EDARADD EEF1A2 EIF4A3 EIF4H ELN EP300 ERCC1 ERCC3 ERCC4 ERCC6 ERCC8 EVC EVC2 EXT1 FAT4 FBXO28 FEZF1 FGD1 FGF10 FGF12 FGF13 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FKBP6 FLNA FLNB FLRT3 FOXC1 FOXH1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAS1 GDF5 GHR GJA1 GLI1 GLI2 GNB2 GREM2 GRHL2 GRHL3 GRIN2D GTF2I GTF2IRD1 GTF2IRD2 HCN1 HECTD4 HESX1 HMGA2 HNRNPK HS6ST1 HSPA9 HSPG2 HUWE1 IFT122 IFT43 IFT52 IKBKG IL11RA IL17RD IL6ST IRF6 IRX5 KCNA2 KCNB1 KCNE5 KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 KCTD1 KDF1 KDM6A KIF1C KIFBP KMT2A KMT2D KREMEN1 KRT14 LAMB3 LEMD2 LEMD3 LETM1 LIMK1 LMNA LMNB1 LRP4 LRP6 LTBP3 MAF MAP3K7 MAPK8IP3 MBTPS2 MESD METTL27 MID1 MLXIPL MSX1 MSX2 MTX2 NAA10 NCF1 NDNF NECAP1 NECTIN1 NEK1 NELFA NEPRO NFKBIA NHP2 NHS NKX2-1 NODAL NOP10 NPM1 NSD1 NSD2 NTRK2 NUP85 NUS1 NXN OCRL OFD1 OTUD5 PACS2 PARN PARS2 PAX9 PCNT PDGFRA PERP PIGG PIGL PIK3C2A PIK3R1 PITX2 PLCH1 PLK4 PLXND1 POLR1B POLR1C POLR1D POLR3A POLR3B POLR3GL POLR3K POP1 PORCN POU4F1 PPP1R15B PPP2R3C PPP3CA PRKACA PRKACB PRKAR1A PROK2 PROKR2 PTCH1 PTEN PTH1R PTHLH PUF60 PUS7 RAB23 RAD21 RAD51 RBBP8 RBM28 RECQL4 REV3L RFC2 RHOA RIC1 RIPK4 RMRP RNF13 ROR2 RPS23 RPS6KA3 RTEL1 RUNX2 SATB2 SCN3A SCN8A SCNM1 SCUBE3 SEMA3A SETD2 SH3BP2 SHH SIX3 SLC10A7 SLC13A5 SLC1A2 SLC25A24 SLC37A4 SLC38A3 SLC39A13 SMAD2 SMARCAL1 SMC1A SMG8 SMOC2 SOX10 SPRY4 SRCAP SRD5A3 STAG2 STIL STX1A SUFU SUMO1 SYNGAP1 SYNJ1 SZT2 TACR3 TBL2 TBX3 TCF12 TCOF1 TDGF1 TERC TERT TFAP2A TGFA TGIF1 TINF2 TMEM270 TP63 TRAF6 TRAIP TRAK1 TRIM37 TRIO TRMT10A TRPS1 TRPV3 TSPEAR TWIST2 TYMS UBA5 UBE3C UBR1 USB1 VPS13B VPS37D WDR11 WDR19 WDR35 WNT10A WNT10B WNT5A WRAP53 WWOX XYLT1 YWHAG ZIC2 ZMPSTE24 HP_ABNORMAL_OCCIPITAL_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OCCIPITAL_BONE_MORPHOLOGY ADSL ALX4 AMER1 ASPM ATP6V1B2 ATP7A CCDC22 CDK13 CDKN1C CHUK CNOT1 CNOT3 CTSK CYP27B1 CYP2R1 DLL3 DPM1 DPYSL5 EHMT1 ERF EZH2 FGFR2 FIG4 FLNA FLNB GDF11 GJA5 GJA8 GLI3 HES7 HK1 HRAS HYMAI IFT122 IFT43 IFT52 IFT81 IGF2 IL11RA INPPL1 ITCH KAT6B KATNB1 KCNQ1 KCNQ1OT1 KIF11 KIF7 KRAS LFNG MAN1B1 MAN2B1 MCTP2 MED12 MESP2 METTL23 MOGS MYCN NDE1 NFIX NOTCH2 NRAS OCA2 OCRL OTUD6B PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGA PIGN PLAGL1 PPP1R21 PTCH1 RALGAPA1 RELN RIPPLY2 RNU4ATAC RPS23 RTTN SATB2 SETD1B SH3PXD2B SLC25A12 SLC34A3 SLC35A1 SMG9 SNRPN SOX6 SYNE1 TAF1 TBC1D24 TBX6 TFAP2B TMEM70 TOR1A TUBB3 TWIST1 UBE3A UBE3B UFC1 VAC14 VDR VPS35L WASHC5 WDR19 WDR35 WDR73 ZIC1 HP_ABNORMAL_OCULAR_ADNEXA_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OCULAR_ADNEXA_PHYSIOLOGY AARS1 ANO3 ATN1 ATP13A2 CACNA1A CHN1 CLCN1 CP CPLX1 DDC DRD5 FGFR2 FGFR3 FTL HPCA HSPG2 KCTD17 MAFB MAPT MECR PANK2 PARK7 PLA2G6 POLR1B POLR1C POLR1D SALL4 STARD7 SYNJ1 TACSTD2 TAF1 TBC1D24 TBP TCOF1 THAP1 TOR1A TUBB4A TWIST1 VPS13A HP_ABNORMAL_ODONTOID_PROCESS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ODONTOID_PROCESS_MORPHOLOGY AIFM1 ALDH18A1 ARSB BGN COG4 COL2A1 COMP DDR2 DKK1 DLL3 DYM EIF2AK3 EXTL3 FGD1 FLNA FLNB FN1 GALNS GLB1 GNPTAB GUSB HES7 IARS2 IDUA INPPL1 LFNG LONP1 MESP2 MMP13 NFIX NMNAT1 RAB33B RMRP TRAPPC2 TRPV4 HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY AARS1 ACP4 ADGRV1 AIRE AKT1 ALDH3A2 AMBN AMELX AMTN ANAPC1 APC ARVCF ATR ATRIP AXIN2 B3GALT6 BAZ1B BCL7B BMP1 BUD23 CARS1 CCDC134 CCDC8 CDH23 CENPE CENPJ CEP152 CHD3 CIB2 CLDN1 CLDN19 CLEC7A CLIP2 CNNM4 COG6 COL17A1 COL1A1 COL1A2 COL7A1 COMT COX7B CREBBP CRTAP CTBP1 CTSK CUL7 CYP27B1 CYP2R1 DDX59 DHCR7 DIAPH1 DLX3 DNA2 DNAJC21 DNAJC30 DSPP EDA EDARADD EIF4H ELMO2 ELN ENAM EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ESPN FAM20A FAM20C FAM83H FBXO28 FERMT1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FKBP10 FKBP6 FLNB GALNS GALNT3 GJA1 GLB1 GNAS GNB2 GP1BB GPR68 GRHL2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HCCS HIRA HLA-DQA1 HLA-DQB1 HRAS IFITM5 IFT122 IFT43 IFT52 IKBKG IL17F IL17RA IL17RC IRF6 IRX5 ITGA6 ITGB4 ITGB6 JMJD1C KCNJ2 KLK4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIMK1 LMX1B LONP1 LRP4 LRP6 LTBP3 MBTPS2 METTL27 MIA3 MLXIPL MMP1 MMP20 MPLKIP MSX1 MYO7A NCF1 NDUFB11 NECTIN1 NECTIN4 NF1 NUP133 NUP85 OBSL1 OCRL ODAPH OFD1 ORAI1 P3H1 P4HB PAK2 PAX9 PCDH15 PCNT PDE4D PDZD7 PEX1 PEX6 PGAP1 PHEX PIK3C2A PIK3R1 PLEC PLK4 POLR1B POLR1C POLR1D PORCN PPIB PTDSS1 PTEN RAD21 RBBP8 RECQL4 RELT RFC2 RHOA RNF113A RNU12 ROGDI RREB1 RUNX2 SATB1 SCUBE3 SEC24C SEC24D SERPINF1 SERPINH1 SLC10A7 SLC13A5 SLC24A4 SLC29A3 SLC35A2 SMARCA2 SMARCD2 SMOC2 SP6 SP7 SPARC STIM1 STX16 STX1A SUMO1 TARS1 TBCE TBL2 TBX1 TCIRG1 TCOF1 TGFA TMEM165 TMEM270 TNFRSF11A TP63 TRAF3IP2 TRAIP TRIM37 TRIP11 TSC1 TTC7A UFD1 USH1C USH1G USH2A VDR VPS37D WDR19 WDR35 WDR72 WHRN WNT10A WNT10B ZNF469 HP_ABNORMAL_OOCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OOCYTE_MORPHOLOGY PANX1 PATL2 TUBB8 WEE2 ZP2 HP_ABNORMAL_OPTIC_NERVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OPTIC_NERVE_MORPHOLOGY AAAS AARS1 ABCA4 ABCC6 ABCG5 ABCG8 ABHD12 ACADS ACER3 ACO2 ACOX1 ACTB ACTG1 ACTL6B ADA2 ADAM22 ADAR AFF4 AFG3L2 AGBL5 AGTPBP1 AGXT AHI1 AHR AIFM1 AIPL1 AKT1 AKT3 ALDH1A2 ALDH1A3 ALG13 ALG3 ALG8 ALMS1 AMPD2 ANKRD11 ANTXR1 AP1S2 AP3B2 AP4M1 APC APOB ARHGEF18 ARHGEF2 ARL13B ARL2BP ARL3 ARL6 ARNT2 ARSA ARSL ARV1 ARVCF ARX ASB10 ASNS ASPA ASXL1 ATAD3A ATG7 ATIC ATN1 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1B2 ATPAF1 ATPAF2 ATRX ATXN1 ATXN7 AUH B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAP1 BBS1 BBS2 BCAP31 BCOR BEST1 BLOC1S3 BOLA3 BRAF BRAT1 BTD C19orf12 C1QTNF5 C2CD3 C4A CA2 CA4 CACNA1A CACNA1B CACNA1C CACNA1F CACNA2D1 CASK CASR CASZ1 CBS CC2D2A CCDC22 CCDC88A CCND1 CCR1 CDC42 CDC42BPB CDH11 CDH23 CDHR1 CDK19 CDON CELF2 CENPF CEP290 CEP85L CERKL CFAP410 CFAP418 CHD7 CHN1 CHSY1 CISD2 CKAP2L CLCC1 CLCN2 CLCN3 CLCN7 CLDN11 CLN3 CLN8 CLP1 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNKSR2 CNNM4 CNOT3 COA8 COG6 COL18A1 COL25A1 COL4A1 COMT COX7B CPAMD8 CPLX1 CPSF3 CRB1 CRPPA CRX CSF1R CSPP1 CTBP1 CTC1 CTLA4 CTNNA2 CTNNB1 CYFIP2 CYP1B1 CYP27A1 CYP7B1 DAG1 DALRD3 DARS1 DARS2 DDB2 DDHD2 DDX11 DDX59 DENND5A DGUOK DHCR7 DHDDS DHX38 DIAPH1 DKC1 DNAJC19 DNAJC30 DNM1 DNM1L DNMT1 DNMT3A DOCK6 DPAGT1 DPM1 DPM2 DPYD DPYSL5 DYRK1A EEF1A2 EFEMP1 EIF2B1 EIF2B2 EIF2B4 ELOVL1 ELP1 ELP4 EMC1 EPCAM EPG5 EPRS1 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESPN EXOC2 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EYS FA2H FAM111A FAM161A FANCB FANCI FAS FBXO28 FCSK FDFT1 FDX2 FDXR FGF12 FGF13 FGFR1 FGFR2 FGFR3 FH FKRP FKTN FLRT1 FLVCR1 FOXA2 FOXRED1 FRMPD4 FSCN2 FXN FZD4 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GATA2 GATA3 GATAD2B GBA1 GDF3 GDF6 GEMIN4 GFM2 GGCX GJA1 GJC2 GLA GLB1 GLI2 GLRX5 GLYCTK GMPPA GMPPB GNA11 GNAQ GNAT1 GNPAT GP1BA GP1BB GPAA1 GPR161 GRIA4 GRID2 GRIN2D GRN GTPBP2 GUCA1B GUCY2D HARS1 HCN1 HESX1 HGSNAT HHAT HIKESHI HIRA HK1 HLA-A HLA-B HLA-DRB1 HMX1 HNRNPH1 HNRNPK HNRNPU HSD17B10 HSPG2 HUWE1 IBA57 IDH3A IDH3B IDS IER3IP1 IFNGR1 IFT140 IFT172 IFT43 IFT74 IFT88 IGBP1 IKBKG IL10 IL11RA IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INTS8 IQCB1 ISCA2 ITM2B JAM3 JMJD1C KANSL1 KAT6A KCNA2 KCNAB2 KCNB1 KCNC3 KCNJ13 KCNK4 KCTD7 KIAA0586 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF21A KIF5A KIF7 KIZ KLC2 KLHL7 KLRC4 KMT2D KNSTRN KRAS L2HGDH LAMB1 LARGE1 LCA5 LDLR LDLRAP1 LETM1 LHX3 LHX4 LRAT LRP4 LRP5 LUZP1 LYRM7 MACF1 MAFB MAG MAK MAN2B1 MAP2K1 MAP2K2 MAPKAPK5 MBTPS2 MC1R MCOLN1 MECR MED12 MEF2C MEFV MERTK MFF MFN2 MFRP MFSD8 MGP MICOS13 MICU1 MID2 MINPP1 MKS1 MMACHC MMP14 MMP19 MMP2 MMP23B MMUT MOGS MPDU1 MPDZ MPLKIP MRPS34 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTO1 MTOR MTPAP MTRFR MTSS2 MVK MYO5A MYOC NAA10 NADK2 NAGA NALCN NARS2 NBAS NDE1 NDP NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEFL NEK2 NELFA NEU1 NF2 NFIX NGLY1 NIPBL NLRP3 NMNAT1 NOD2 NOTCH2NLC NOTCH3 NR2E3 NR2F1 NR3C1 NRCAM NRL NSD2 NT5C2 NTRK2 NUBPL NUP54 NUP62 NUS1 OCA2 OFD1 OGDHL OPA1 OPA3 OSTM1 OTUD5 OTX2 P4HA2 P4HTM PACS2 PANK2 PARS2 PAX2 PAX6 PCARE PCK1 PCLO PCSK9 PCYT1A PCYT2 PDE6A PDE6B PDE6G PDGFB PDHX PDPN PDSS1 PDXK PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2A PI4KA PIEZO2 PIGB PIGG PIGU PIK3CA PIK3CD PISD PLA2G6 PLAA PLEKHM1 PLK4 PLP1 PLXNA1 PMPCB PNPLA6 POC1B POGZ POLG POLG2 POLR3A POLR3B POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU3F4 PPP1CB PPP1R21 PPP2R1A PPP3CA PPT1 PRCD PRDM16 PRICKLE3 PRKAR1A PRKCZ PRMT7 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRUNE1 PSAP PSMD12 PTCD3 PTEN PTF1A PTPN22 PTPN23 PUF60 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAX2 RBL2 RBM10 RBP3 RBP4 RD3 RDH12 RECQL4 REEP6 RERE RFC1 RFX7 RGR RHO RHOA RIMS2 RLBP1 RNF113A RNF135 RNF170 RNF216 RNU7-1 ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPS6KA3 RREB1 RRM2B RSPO2 RTN4IP1 RTTN RXYLT1 SAG SALL2 SALL4 SARDH SBF2 SCAPER SCN3A SCN8A SCYL1 SCYL2 SDHA SDHD SEC23A SEC24C SEC31A SELENOI SEMA3E SEMA4A SERAC1 SETD2 SH3BP2 SH3TC2 SIL1 SIX6 SKI SLC13A5 SLC19A2 SLC1A2 SLC25A19 SLC25A46 SLC29A3 SLC30A9 SLC38A3 SLC38A8 SLC39A14 SLC44A1 SLC45A2 SLC4A2 SLC52A2 SLC6A9 SLC7A14 SMARCB1 SMARCE1 SMG8 SMO SMOC1 SNAP29 SNRNP200 SNX10 SON SOST SOX2 SOX3 SOX5 SP7 SPATA7 SPEN SPG7 SPINT2 SPOP SRD5A3 SSBP1 ST3GAL5 STAG2 STAMBP STAT4 STT3B STX3 SUFU SUMF1 SURF1 SYNE1 SYNGAP1 SYNJ1 SZT2 TACO1 TANGO2 TASP1 TBC1D20 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBX1 TCIRG1 TCTN1 TCTN2 TCTN3 TEK TERT TFG TGFB1 THG1L TIMM50 TIMM8A TIMMDC1 TK2 TLR4 TLR7 TMEM106B TMEM107 TMEM126A TMEM126B TMEM216 TMEM222 TMEM231 TMEM237 TMEM53 TMEM63A TMEM67 TMEM98 TMTC3 TNFRSF11A TNFRSF11B TNFSF11 TOE1 TOPORS TOR1A TP53 TPI1 TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRIT1 TRNT1 TRRAP TSC1 TSC2 TSEN54 TSFM TSPAN12 TTC8 TUB TUBA1A TUBA8 TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWNK TXN2 TXNDC15 TYR TYRP1 UBA5 UBAC2 UBE3B UBE4B UCHL1 UFD1 UQCRFS1 USH2A USP45 USP48 USP8 VCAN VHL VPS11 VPS13B VPS33A VPS35L VPS41 VPS53 VRK1 VSX1 WARS2 WASHC5 WDR11 WDR4 WDR45 WDR73 WFS1 WNT3 WT1 WWOX XPA XPC XYLT1 XYLT2 YAP1 YME1L1 YWHAG ZEB2 ZIC1 ZNF408 ZNF513 ZNF592 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY ADNP AFF3 ATP6V1B2 B3GLCT BCR C2CD3 CD96 CDC42BPB CDK13 CHUK COL3A1 COL7A1 CPLANE1 CRKL DDX59 DVL1 DYNC2LI1 EFTUD2 EVC EVC2 FAM111A FAM149B1 FLNA FREM1 GLI1 GLI3 H4C5 IFT140 IFT57 KIAA0586 KIAA0753 KIF7 KMT2D LMNA MAPK1 MID1 MMP1 NEK1 NXN OFD1 PDE6D POU4F1 PRKACA PRKACB PRR12 RIPK4 ROR2 RSPO2 SCNM1 SETBP1 SETD5 SLC37A4 SMARCA2 SPTBN1 TBC1D24 TBR1 TBX22 TCTN3 TELO2 TMEM216 TOPORS WDR35 WNT5A ZMPSTE24 HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE ABCC8 APPL1 BLK CEL GCK HNF1A HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 SLC5A1 SLC5A2 HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY ABCA5 ABCC6 ABCC9 ABCD1 ACD ACVRL1 ADA2 ADAMTS2 ADAMTS3 AEBP1 AFF3 AGA AIMP2 ALMS1 ANTXR2 AP3B1 ASXL3 ATG7 ATP6V1B2 ATRX B4GALT7 BANK1 BAZ1B BCL7B BCOR BGN BLK BLOC1S3 BLOC1S5 BRAF BUD23 C1QB C1R C1S C4A C4B CARMIL2 CASP10 CAST CAT CCBE1 CCR1 CD27 CD40LG CD96 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CEBPE CLIP2 CLPB CLTRN CNTNAP1 COL17A1 COL3A1 COL7A1 CR2 CTC1 CTLA4 CTSC CXCR4 CYBA CYBB CYBC1 DCLRE1B DCLRE1C DDR2 DHCR24 DHCR7 DKC1 DNAJC21 DNAJC30 DNASE1 DNM1 DSG3 DSP DVL1 DVL3 DYNC2LI1 ECM1 EDA EFL1 EIF4H ELANE ELF4 ELMO2 ELN ELOVL4 EMC1 ENG ERAP1 ETS1 EVC EVC2 EXTL3 F10 F13A1 F13B F2 F5 F7 F8 FAM20A FAM20C FAS FASLG FAT4 FBXO28 FCGR2B FCGR2C FCGR3B FERMT1 FGA FGB FGF3 FGFR2 FGG FIG4 FIP1L1 FKBP6 FZD2 G6PC3 GBA1 GCGR GFI1 GJB2 GJB6 GLB1 GLI1 GLMN GNAQ GNPTAB GORAB GP1BA GP1BB GP9 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GUSB HIVEP2 HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HPS1 HPS3 HYLS1 HYMAI HYOU1 IDS IDUA IER3IP1 IFNG IFNGR1 IGHG1 IL10 IL10RA IL12A IL12A-AS1 IL17RC IL18BP IL1RN IL21 IL23R IL6 IL6ST IL7R INSR IRAK1 IRF2BP2 IRF5 IRF9 ITGA2B ITGA6 ITGAM ITGB2 ITGB3 ITGB4 ITK JAK2 JAZF1 KCNH1 KCNJ6 KCNK4 KCNMA1 KCNN3 KIAA0319L KIF1A KIF23 KIF7 KLRC4 KRT14 KRT16 KRT17 KRT4 KRT5 KRT6A KRT6B KRT6C KYNU LAMA3 LAMB3 LAMC2 LBR LIMK1 LMAN1 LMBRD1 LMNB1 LYST MALT1 MAN2B1 MAP1B MBTPS2 MCFD2 MECP2 MEFV MEN1 METTL27 MGAT2 MIA3 MLXIPL MMACHC MMP1 MMP14 MMP2 MPL MTX2 MVK MYD88 MYSM1 NABP1 NAGA NCF1 NCF2 NCF4 NEU1 NFIX NGF NHP2 NLRP12 NLRP3 NOD2 NOP10 NOTCH2 NOTCH3 NPM1 NR3C1 NTRK1 NUMA1 NXN OCRL ORAI1 OSTM1 PARN PDCD1 PDGFRB PERP PIGA PIGN PIGS PLAGL1 PLEC PLEKHM1 PLG PML PRF1 PRKACA PRKACB PRKAR1A PRKCD PRKDC PRMT7 PTPN22 PXK RACGAP1 RALGAPA1 RARA RASGRP1 RELA REST RFC2 RHBDF2 RHOH RIN2 RIPK1 RIPK4 RMRP RNF125 ROR2 RORC RPA1 RTEL1 SAA1 SAMD9 SASH3 SAT1 SATB2 SBDS SC5D SCARB2 SERPINF2 SETBP1 SH3PXD2B SLC17A5 SLC29A3 SLC35C1 SLC37A4 SLC46A1 SLC6A19 SMAD4 SOS1 SPP1 SREBF1 SRP19 SRP54 STAT3 STAT4 STAT5B STK11 STK4 STX1A SYK TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TCIRG1 TCTN3 TERC TERT TET2 TGDS TICAM1 TINF2 TLR4 TLR7 TLR8 TMCO1 TMEM270 TNFAIP3 TNFSF4 TNIP1 TP53 TREX1 TRIM8 TRPV3 TSC1 TSC2 TWIST2 TYMS UBAC2 UBE2L3 USB1 USP48 USP8 USP9X VAC14 VPS13B VPS37D WAS WDR1 WDR26 WIPF1 WNT5A WRAP53 XYLT1 XYLT2 ZAP70 ZBTB16 ZEB2 ZNHIT3 HP_ABNORMAL_ORAL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_PHYSIOLOGY ACTA1 ADGRG1 ADNP ADSS1 ALS2 ANG ANKLE2 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP10A ATP1A3 ATP6AP2 ATP7B ATRX ATXN2 AXIN2 BANK1 BCOR BCORL1 BLK C4A C4B CACNA1I CAMTA1 CAV1 CCN2 CCNF CCR6 CERT1 CFAP410 CFTR CHAMP1 CHCHD10 CHMP2B CHRM3 CHRNA1 CLDN10 CLDN11 COLQ CR2 CTLA4 DAO DCTN1 DEAF1 DLAT DLK1 DNASE1 DNM1L EDA EDARADD EIF2S3 ELOVL1 EPHA4 ERBB4 ETS1 EXTL3 F10 F13A1 F13B F2 F5 F8 FARS2 FBLN1 FBXO28 FCGR2B FCGR3B FGF10 FGFR1 FGFR2 FGFR3 FIG4 FIP1L1 FOXG1 FOXP1 FOXP2 FUS GABBR2 GABRA1 GABRG2 GCH1 GFM2 GLE1 GLT8D1 GNAI3 GNS GPT2 GRIK2 GRIN1 GRIN2A GRIN2D GSN H4C5 HACD1 HDAC4 HERC1 HIVEP2 HLA-B HLA-DRB1 HNRNPA1 HNRNPH2 HOXB1 HPDL IDS IGHG1 IKZF1 IL10 IRAK1 IRF2BP2 IRF5 IRF6 ITGA7 ITGAM JAZF1 KANSL1 KCNC2 KIAA0319L KIF15 KIF23 KIF7 LAMA2 LAMB2 LBR LMNB2 LNPK LPIN1 LRP6 MAGEL2 MAP3K20 MAT1A MATR3 MBD5 MECP2 MED12 MED27 MEG3 MRE11 MSX1 MT-CO1 MT-CO3 MTHFS MTRFR MYL2 NAA20 NABP1 NALCN NAXD NECTIN1 NEFH NEK1 NEXMIF NFIX NOD2 NONO NPM1 NRXN1 NTNG2 NUMA1 OBSCN OCA2 OPTN P4HA2 PAK3 PAX9 PCDH19 PCGF2 PDCD1 PDE10A PFN1 PI4KA PIGL PLA2G6 PML PMP22 POLR3A POLR3B PON1 PON2 PON3 POU3F3 PPARGC1A PPP2R5D PRKAR1A PRPH PRPS1 PTPN22 PTS PXK PYGM PYROXD1 QDPR RAB11B RACGAP1 RARA RSRC1 RTL1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN9A SCNN1A SCNN1B SCNN1G SELENBP1 SELENON SERPINE1 SERPING1 SETD5 SH3TC2 SHMT2 SIM1 SLC12A2 SLC12A5 SLC16A2 SLC1A4 SLC25A12 SLC39A14 SLC9A6 SLC9A7 SMARCA2 SNRPN SOD1 SPART SPEN SPP1 SPTBN1 SQSTM1 SRPX2 STAT3 STAT4 STAT5B STRADA SUMO1 SYNGAP1 TAF15 TANGO2 TARDBP TASP1 TBK1 TBL1XR1 TBX1 TGFA TH TLR7 TNFAIP3 TNFSF4 TNIP1 TP63 TPM2 TPM3 TREM2 TREX1 TSPOAP1 TUBB2B TUBB3 UBE2L3 UBE3A UBQLN2 UNC13A VAC14 VAPB VCP VPS13A WAS WNT10A WNT10B ZBTB11 ZBTB16 ZC4H2 ZEB2 HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK ARSL B3GALT6 COL2A1 COMP CSPP1 DUOX2 DUOXA2 DYM FLNB HESX1 IYD KIAA0586 LHX3 LHX4 MATN3 POU1F1 PROP1 RNU4ATAC SLC26A2 SLC5A5 TG TPO TSHB TSHR UFSP2 HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE CBFB COL2A1 FGFR2 FIG4 GJB2 GJB6 GSC NKX3-2 RUNX2 SIK3 HP_ABNORMAL_OVARIAN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_MORPHOLOGY AGPAT2 AKT1 AKT2 ALG9 ALMS1 ANTXR2 AR ARL6 ATM BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BMP15 BNC1 BSCL2 BUD23 C14orf39 CAV1 CAVIN1 CBX2 CEP19 CEP290 CFAP418 CHD7 CIDEC CLIP2 CLPP CORIN CYB5A CYP11B1 CYP17A1 CYP19A1 DCAF17 DHH DHX37 DMRT1 DMRT3 DNAJC30 DUSP6 EIF4H ELN ERAL1 ESR1 F7 FGF17 FGF8 FGFR1 FIGLA FKBP6 FLT1 FOS FOXL2 FSHR GATA4 GNAS GNRH1 GNRHR GTF2I GTF2IRD1 GTF2IRD2 HARS2 HFM1 HNF1A HS6ST1 IFT172 IFT27 IFT74 INSR KISS1 KISS1R KLLN LARS2 LEP LEPR LHB LIMK1 LIPE LMNA LMNB2 LZTFL1 MAP3K1 MCM8 METTL27 MID1 MKKS MKS1 MLXIPL MMP14 MMP2 MRPS22 MSH3 MSH4 MSX1 MT-CYB NCF1 NDNF NHLH2 NOBOX NPHP1 NR0B1 NR5A1 NSMF NTHL1 NUP107 OFD1 PANX1 PATL2 PAX6 PDE11A PHKA2 PHKB PHKG2 PIK3CA PIK3R1 PLIN1 PMM2 POLR3H POR PPARG PPP1R12A PRKAR1A PRLR PROK2 PROKR2 PSMC3IP PTEN PTPN11 RFC2 SCAPER SCLT1 SDCCAG8 SDHB SDHC SDHD SEC23B SETBP1 SETD2 SLC37A4 SOX3 SOX9 SPIDR SPRY4 SRY STAG3 STK11 STOX1 STX1A TAC3 TACR3 TBL2 TBX1 TMEM270 TP63 TRIM32 TRPV6 TTC8 TUBB8 USF3 VAMP7 VPS37D WDPCP WDR11 WEE2 WT1 WWOX ZFPM2 ZPR1 ZSWIM7 HP_ABNORMAL_OVARIAN_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_PHYSIOLOGY AARS2 AGK AIP AIRE ANAPC1 ANAPC7 ATM B4GALNT1 BLM BMP15 BMP4 BNC1 C14orf39 CASP10 CDH23 CEP164 CEP290 CHD7 CHP1 COL25A1 DCAF17 DIAPH2 DUSP6 EIF2B1 EIF2B2 ERAL1 ERCC4 FAS FASLG FGF17 FGF8 FGFR1 FIGLA FMR1 FOXL2 FSHB FSHR GALK1 GALT GGPS1 GNRH1 GNRHR HFM1 HS6ST1 HSF2BP INVS IQCB1 KISS1 KISS1R LARS2 LMNA MCM3AP MCM8 MEN1 MRPS22 MSH4 NBN NHLH2 NOBOX NPHP1 NPHP3 NPHP4 NR5A1 NSMF NUP107 PMM2 POF1B POLG POLG2 POLR3H PRKCD PRLR PROK2 PROKR2 PSMC3IP RASGRP1 RCBTB1 RIN2 SDCCAG8 SPIDR SPRY4 STAG3 TAC3 TACR3 THOC6 TRAF3IP1 TTI2 TWNK WDR11 WDR19 XRCC2 ZFHX4 ZMPSTE24 ZSWIM7 HP_ABNORMAL_PALATE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALATE_MORPHOLOGY AARS1 AASS ABCC6 ABL1 ACBD5 ACTA1 ACTA2 ACTB ACTG2 ACTN2 ACVRL1 ADA2 ADAM22 ADAMTS10 ADARB1 ADAT3 ADNP AEBP1 AFF4 AGRN AHI1 AIFM1 AK9 AKT1 ALDH6A1 ALG14 ALG2 ALG3 ALG9 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC7 ANK1 ANKRD11 ANKRD17 ANO1 ANOS1 ANTXR1 AP1G1 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 AR ARCN1 ARHGAP29 ARHGAP31 ARHGEF2 ARHGEF38 ARID1A ARID1B ARID2 ARL6 ARNT2 ARVCF ARX ASH1L ASPH ASXL1 ASXL3 ATAD1 ATG7 ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATR ATRX B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BBS1 BCOR BCR BGN BICRA BIN1 BLNK BLTP1 BMP2 BMP4 BMPER BMPR1A BPNT2 BRAF BRAT1 BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 C2CD3 CA2 CACNA1S CACNA2D1 CAMSAP1 CAMTA1 CARS1 CASK CBL CBS CC2D2A CCBE1 CCDC141 CCDC22 CCDC28B CCDC32 CCDC47 CD79A CD79B CD96 CDC45 CDC6 CDH1 CDH11 CDH2 CDK10 CDK19 CDKL5 CDKN1C CDON CDT1 CENPF CEP120 CEP152 CEP290 CEP41 CEP57 CFL2 CHAMP1 CHAT CHD3 CHD4 CHD7 CHKA CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCF1 CLCN3 CLP1 CLTC CNOT1 CNTN1 CNTNAP1 COBLL1 COG1 COG5 COL11A1 COL11A2 COL12A1 COL13A1 COL1A2 COL2A1 COL3A1 COL4A1 COL5A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COLQ COMT COPB1 COX14 COX6A2 COX7B CPLANE1 CPLX1 CPSF3 CPT2 CREBBP CRKL CRLF1 CRPPA CSNK2A1 CSPP1 CTBP1 CTCF CTNNB1 CTNND1 CTNND2 CTSK CTU2 CUL3 CUL4B CYP26C1 DAG1 DBH DCC DCHS1 DDHD2 DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DEF6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHODH DHPS DHX30 DIS3L2 DISP1 DLG1 DLG3 DLK1 DLL1 DLL3 DLX4 DLX5 DMXL2 DOCK3 DOK7 DONSON DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DSP DST DUSP6 DVL1 DVL3 DYNC2H1 DYRK1A EARS2 EBP ECEL1 ECM1 EDEM3 EDN1 EDNRA EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EIF2AK3 EIF2S3 EIF4A3 EIF5A ELMO2 ELN ENG ENPP1 EP300 EPG5 ERCC2 ERCC3 ERCC4 ERCC5 ERF ERLIN2 ERMARD ESCO2 ESS2 EXOC7 EXOSC9 EXT1 EYA1 FAM149B1 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBN1 FBN2 FBXL3 FBXO11 FBXO28 FEZF1 FGD1 FGF10 FGF17 FGF20 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKBP14 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT3 FLVCR2 FN1 FOXA2 FOXC2 FOXE1 FOXE3 FOXF1 FOXH1 FOXL2 FOXP2 FRA10AC1 FRAS1 FREM2 FRMPD4 FTO FUT8 FZD2 G6PC3 GABRA3 GAD1 GAS1 GATA1 GATA3 GATA4 GATAD2B GBA1 GDF11 GDF3 GDF6 GEMIN4 GFPT1 GFRA1 GIPC1 GJA1 GJA5 GJA8 GJB2 GLE1 GLI2 GLI3 GMNN GMPPB GNAI3 GNAO1 GNB1 GNB2 GNE GNPAT GNRH1 GNRHR GP1BB GPC3 GPC4 GPT2 GRB10 GREB1L GRHL3 GRIA3 GRIN1 GRIP1 GRM7 GSC GTF2E2 GTF2H5 H19 H4C5 HAAO HACD1 HBA1 HBA2 HCCS HDAC8 HEATR3 HECTD4 HECW2 HERC1 HERC2 HES7 HESX1 HEY2 HIRA HIVEP2 HMGA2 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXA2 HOXB1 HOXD13 HPDL HPGD HRAS HS2ST1 HS6ST1 HSD17B4 HSPA9 HSPG2 HUWE1 HYAL1 HYLS1 HYMAI HYOU1 IBA57 IER3IP1 IFT122 IFT140 IGBP1 IGF1R IGF2 IGHM IGLL1 IL11RA IL17RD IL6ST INPP5E INPPL1 INSR INTS1 INTU IPO8 IQSEC2 IRF6 IRX5 ITGA7 ITGA8 JARID2 JMJD1C JUP KANSL1 KAT5 KAT6A KAT6B KATNIP KBTBD13 KCNA1 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK9 KCNMA1 KCNN3 KCTD1 KDF1 KDM1A KDM5C KDM6A KDM6B KIAA0586 KIAA0753 KIF14 KIF15 KIF1A KIF21A KIF26A KIF7 KIFBP KISS1 KISS1R KLHL41 KLHL7 KLLN KMT2A KMT2B KMT2C KMT2D KPTN KRAS L1CAM LAGE3 LAMB2 LARGE1 LARS2 LBR LEMD3 LETM1 LFNG LGI4 LHX4 LIG4 LMBRD1 LMNA LMOD3 LMX1B LOX LRP12 LRP4 LRP5 LRRC32 LRRC8A LTBP1 LTBP2 LZTR1 MAD2L2 MADD MAF MAFB MAMLD1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MAT2A MBTPS2 MCM3AP MCTP2 MECOM MECP2 MED12 MED12L MED13L MED25 MEG3 MEGF10 MEGF8 MEIS2 MEOX1 MESD MESP2 METTL23 MFAP5 MID1 MINPP1 MKKS MKS1 MN1 MOGS MPLKIP MRAS MRPL12 MSTO1 MSX1 MSX2 MT-CYB MT-TE MT-TN MT-TS1 MTM1 MTX2 MUSK MYBPC1 MYCN MYH11 MYH2 MYH3 MYH7 MYL1 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NAE1 NALCN NBN NCDN NDNF NDUFA8 NDUFAF6 NDUFB11 NEB NECTIN1 NEDD4L NEFL NEK1 NEK9 NELFA NEUROD2 NF1 NFASC NFIX NHLH2 NIPA1 NIPA2 NIPBL NLRP3 NODAL NONO NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSMF NSRP1 NSUN2 NUAK2 NUP107 NUP188 NUP88 NXN OBSL1 OCLN OCRL ODC1 OFD1 OGDHL ORC1 ORC4 ORC6 OSGEP OTUD6B OTX2 PAFAH1B1 PAH PAK3 PALB2 PAX1 PAX3 PAX7 PCDHGC4 PCGF2 PCLO PDE11A PDE6D PDGFRA PDHX PDZD8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM1 PGM2L1 PGM3 PHF8 PHGDH PHIP PI4KA PIEZO2 PIGA PIGB PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3R1 PITX1 PLAA PLAG1 PLAGL1 PLCB4 PLCH1 PLOD1 PLXND1 PMM2 PNKP POGZ POLA1 POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPP1CB PPP1R21 PPP2CA PPP2R5D PPP3CA PQBP1 PRDM5 PRKAR1A PRKAR1B PRKG1 PRMT7 PROK2 PROKR2 PROP1 PRPS1 PRR12 PRRX1 PRUNE1 PSAT1 PTCH1 PTDSS1 PTEN PTPN11 PTPN14 PUF60 PUM1 PURA PUS1 PUS7 PYCR1 PYCR2 PYROXD1 QARS1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RARS2 RASA2 RB1 RBM10 RBM8A RECQL4 REEP1 RERE RET REV3L RFWD3 RFX7 RIC1 RILPL1 RIN2 RIPK4 RIPPLY2 RIT1 RLIM RMRP RNASEH1 RNF113A RNU12 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPO2 RTL1 RUNX2 RUSC2 RXYLT1 RYR1 RYR3 SALL4 SATB2 SC5D SCARF2 SCN1B SCN2A SCN4A SCNM1 SCO2 SCUBE3 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SEC31A SELENOI SELENON SEMA3A SEMA3E SEMA5A SEPTIN9 SERPING1 SET SETBP1 SETD5 SF3B2 SF3B4 SH2B1 SH3BP2 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SHOX SIAH1 SIK1 SIK3 SIN3A SIX1 SIX2 SIX3 SIX5 SKI SKIC3 SLC10A7 SLC12A6 SLC17A5 SLC18A3 SLC25A1 SLC25A12 SLC25A19 SLC25A22 SLC25A24 SLC25A46 SLC26A2 SLC2A10 SLC32A1 SLC35A2 SLC35B2 SLC35C1 SLC35D1 SLC39A13 SLC39A7 SLC5A7 SLC6A17 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCD1 SMC1A SMC3 SMC5 SMCHD1 SMG9 SMO SMOC1 SMPD4 SMS SNAP25 SNIP1 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOX10 SOX11 SOX2 SOX3 SOX5 SOX6 SOX9 SP7 SPATA5L1 SPECC1L SPEG SPEN SPI1 SPINT2 SPOP SPRED1 SPRED2 SPRY4 SPTBN1 SPTBN4 SRY STAC3 STAG1 STAG2 STAMBP STAT3 STIL SUFU SUMO1 SUPT16H SURF1 SYNGAP1 SYT2 TAB2 TAC3 TACR3 TAF1 TAF6 TAOK1 TAPT1 TARS1 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TBX6 TCF3 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TECR TELO2 TET3 TFAP2A TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC2 THOC6 THSD4 TIMM50 TLK2 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TNNI2 TNNT1 TNNT3 TOE1 TOGARAM1 TOPORS TP63 TPM2 TPM3 TRAPPC2 TRIM8 TRIO TRIP12 TRIP13 TRIP4 TRMU TRPM3 TRPS1 TRPV4 TRRAP TSPEAR TSR2 TTC5 TTN TUBA1A TUBB TUBB3 TUBB6 TUBG1 TWIST1 TWIST2 TWNK TXNDC15 TXNL4A UBA1 UBB UBE2T UBE3B UFC1 UFD1 UPF3B USF3 USP9X VAC14 VAMP1 VAX1 VPS13B VPS35L VPS51 WARS2 WASHC5 WBP11 WDR11 WDR26 WDR35 WDR4 WDR73 WLS WNT3 WNT4 WNT5A WNT7A WNT9B XRCC2 XYLT1 YAP1 YARS1 YARS2 YWHAE YY1 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZMPSTE24 ZMYM2 ZNF292 ZNF341 ZNF469 ZNF668 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_PALMAR_DERMATOGLYPHICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS ADAMTSL1 ADNP AFF3 AIP ALDH6A1 ANKRD11 APC ARID1B ARL3 ASXL1 ASXL2 ASXL3 ATP6V0A2 ATP6V1B2 ATR AUTS2 B3GLCT B4GALT7 BCOR BHLHA9 BICD2 BMP4 BMPR1B BRAF BRD4 BRF1 CCBE1 CCNQ CD96 CDC42BPB CDK10 CDK19 CEP55 CEP57 CHD7 CHST14 CHST3 CILK1 CKAP2L CLCN7 COG1 COX14 COX7B CPLX1 CREBBP CSGALNACT1 CSNK2A1 CTBP1 CTCF DDX11 DHX30 DIS3L2 DLK1 DLX4 DOCK6 DOK7 DPAGT1 DPH1 DPH2 DPYD DSE EHMT1 EP300 ESCO2 EXT1 EXTL3 EZH2 FBXO28 FGD1 FGF9 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FOXP1 G6PC3 GATA1 GDF5 GJA5 GJA8 GLE1 GLYCTK GNB2 GPR101 GRIN1 H3-3A H4C9 HCCS HDAC4 HDAC8 HNRNPK HRAS IFT122 IFT43 IFT57 IGF1 ITCH JARID2 KAT6B KATNB1 KCNH1 KCNK9 KCNMA1 KCNN3 KDM4B KIF21A KMT2D KRAS LETM1 LIFR LMX1B LONP1 LTBP1 LTBP4 MAP1B MAP2K1 MAP2K2 MAP3K7 MCTP2 MED12 MED25 MEF2C MEG3 MEGF8 MSL3 MTFMT MTOR MTX2 MUSK MYH3 MYOD1 NAA10 NAA20 NALCN NBAS NDUFB11 NECTIN1 NEXMIF NGLY1 NIPBL NOG NSD2 NSDHL NUP107 NUP188 NUP88 NXN OTUD5 PACS1 PDHA1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM2L1 PIEZO2 PIGS PKDCC PLAA PLOD3 PNPLA6 POLRMT PORCN PPP2CA PPP2R3C PPP3CA PRR12 PTPRF PUF60 RAB11B RAD21 RAPSN RBM10 RIN2 RIPK4 RNU4ATAC ROR2 RPL10 RPS23 RPS6KA3 RTL1 SEPSECS SET SETBP1 SHOC2 SLC18A3 SLC25A12 SLC25A24 SLC39A13 SMAD2 SMARCA2 SMARCAD1 SMC1A SMC3 SMC5 SMOC1 SMPD4 SMS SPECC1L SPRED2 SPRTN SPTBN1 STAG1 STXBP1 TAF6 TASP1 TBL1XR1 TBX4 TCF12 TCF4 TELO2 TFAP2A TGDS THOC2 TMEM147 TNNI2 TNNT3 TOE1 TPM2 TRIM37 TRIM8 TRIO TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TWIST1 TYMS UBE3B UBR1 UBR7 UFC1 VAC14 VPS13B VPS33A VPS51 WAC WDR37 XYLT1 YY1 ZMYM2 ZNF292 ZNF462 HP_ABNORMAL_PALM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALM_MORPHOLOGY AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 ACVRL1 ADAMTS10 ADAMTSL1 ADAMTSL2 ADNP AFF3 AIFM1 AIP AKT1 ALDH6A1 ALOX12B ALOXE3 ANKRD1 ANKRD11 ANTXR2 AP1B1 APC AQP5 ARID1B ARL3 ASXL1 ASXL2 ASXL3 ATP2A2 ATP6V0A2 ATP6V1B2 ATP7A ATR AUTS2 B3GLCT B4GALT7 BAG3 BAG5 BCOR BCR BGN BHLHA9 BICD2 BMP4 BMPR1B BRAF BRD4 BRF1 C1R CAMK2G CAMTA1 CAP2 CARD14 CAST CCBE1 CCNQ CD28 CD4 CD96 CDC42BPB CDK10 CDK19 CDSN CEP55 CEP57 CERS3 CFTR CHD7 CHST14 CHST3 CHSY1 CIB1 CILK1 CKAP2L CLCN7 COG1 COG4 COG6 COL11A1 COL11A2 COL14A1 COL17A1 COL2A1 COL7A1 COL9A2 COX14 COX7B CPLX1 CREBBP CRKL CRLF1 CRYAB CSGALNACT1 CSNK2A1 CSRP3 CST6 CSTA CTBP1 CTC1 CTCF CTLA4 CTSB CTSC CUL4B CYP4F22 DDR2 DDX11 DES DHX30 DIS3L2 DKC1 DLK1 DLX4 DMD DOCK6 DOK7 DOLK DPAGT1 DPH1 DPH2 DPM1 DPYD DPYSL5 DSC2 DSE DSG1 DSG2 DSP DST DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EHMT1 ENPP1 EP300 ESCO2 EVC EVC2 EXT1 EXTL3 EZH2 FBN1 FBXO28 FERMT1 FGD1 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FHL2 FIG4 FKTN FLG FLNA FOXP1 FZD2 G6PC3 GATA1 GATAD1 GDF5 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLE1 GLYCTK GMPPA GNB1 GNB2 GNS GPC3 GPC4 GPR101 GPR35 GPX4 GRHL2 GRIN1 H3-3A H4C9 HAND2 HCCS HDAC4 HDAC6 HDAC8 HERC2 HNRNPK HNRNPR HPGD HRAS IFT122 IFT43 IFT57 IFT80 IGF1 IGF1R IHH INPP5K INPPL1 ITCH ITGB4 IVNS1ABP JARID2 JPH2 JUP KANK2 KANSL1 KAT6B KATNB1 KCNH1 KCNJ2 KCNK9 KCNMA1 KCNN3 KDF1 KDM4B KDM5C KDM6B KDSR KIF21A KLHL15 KLHL24 KLLN KMT2B KMT2D KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LBR LDB3 LETM1 LIFR LMNA LMOD2 LMX1B LONP1 LORICRIN LSS LTBP1 LTBP3 LTBP4 LZTR1 MAGEL2 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBD5 MBTPS2 MCOLN1 MCTP2 MED12 MED25 MEF2C MEG3 MEGF8 MKRN3 MMP1 MRAS MRPS28 MSL3 MST1 MT-TS1 MTFMT MTOR MTX2 MUSK MYBPC3 MYH3 MYH6 MYH7 MYOD1 MYPN NAA10 NAA20 NALCN NBAS NDN NDUFB11 NECTIN1 NECTIN4 NEXMIF NEXN NGLY1 NHP2 NIPAL4 NIPBL NLRP1 NOG NOP10 NPAP1 NPM1 NSD2 NSDHL NUP107 NUP188 NUP88 NXN ORC1 OTUD5 PACS1 PARN PDGFRB PDHA1 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM2L1 PIEZO2 PIGA PIGL PIGS PIK3CA PIK3R1 PKDCC PKP1 PLAA PLEC PLN PLOD1 PLOD3 PNPLA1 PNPLA6 POFUT1 POGLUT1 POLRMT POMP POR PORCN PPCS PPP2CA PPP2R3C PPP3CA PRDM16 PRKAR1A PRR12 PSEN1 PSEN2 PSENEN PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPRF PUF60 PWAR1 PWRN1 RAB11B RAB3GAP2 RAD21 RAF1 RAI1 RAPSN RBM10 RBM20 RBPJ RECQL4 RHBDF2 RIN2 RIPK4 RIT1 RMRP RNU4ATAC ROR2 RPL10 RPL3L RPS23 RPS6KA3 RSPO1 RSPRY1 RTEL1 RTL1 SASH1 SCN5A SCUBE3 SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEMA4D SEPSECS SERPINA12 SERPINB7 SET SETBP1 SGCD SH3PXD2B SHOC2 SIL1 SIN3A SLC18A3 SLC25A12 SLC25A24 SLC2A10 SLC35C1 SLC39A13 SLCO2A1 SLURP1 SMAD2 SMAD4 SMARCA2 SMARCAD1 SMC1A SMC3 SMC5 SMOC1 SMPD4 SMS SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNRPN SOX18 SPECC1L SPRED2 SPRTN SPTBN1 SRD5A3 STAG1 STS STXBP1 SUFU SULT2B1 TAF1A TAF6 TAFAZZIN TASP1 TAT TBCE TBL1XR1 TBX4 TCAP TCF12 TCF4 TELO2 TERC TERT TFAP2A TGDS TGM1 TGM5 THOC2 TINF2 TMEM147 TMEM53 TMPO TNFRSF1B TNNC1 TNNI2 TNNI3 TNNT2 TNNT3 TOE1 TONSL TP63 TPM1 TPM2 TRAPPC11 TRIM37 TRIM8 TRIO TRIP11 TRPM4 TRPS1 TRPV3 TSEN15 TSEN2 TSEN34 TSEN54 TTN TUBA1A TWIST1 TXNRD2 TYMS UBE3B UBR1 UBR7 UFC1 UPF3B USB1 USF3 VAC14 VCL VEZF1 VPS13B VPS33A VPS33B VPS51 WAC WDR35 WDR37 WDR81 WNT10A WNT5A WRAP53 XYLT1 YY1 YY1AP1 ZC4H2 ZMYM2 ZNF292 ZNF462 ZNF469 HP_ABNORMAL_PANCREAS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_MORPHOLOGY ABCC6 ABCC8 ALG5 ALG9 APPL1 ASXL1 B9D1 B9D2 BICC1 BLK CASR CASZ1 CC2D2A CCND1 CDKN1C CEL CEP290 CFTR CNOT1 CP CPA1 CSPP1 CTRC DIS3L2 DNAJB11 DNAJC21 DYNC2I1 DZIP1L EFL1 ENPP1 FANCD2 FLI1 FLNB FOCAD FOXF1 GABRD GANAB GATA6 GCK GLIS3 HNF1A HNF1B HNF4A HSPG2 IFT140 IGF2 INS KCNAB2 KCNJ11 KCNQ1 KCNQ1OT1 KLF11 LHX1 LUZP1 MKS1 MMP23B MYCN NEK1 NEUROD1 NPHP3 OFD1 PAX4 PDPN PDX1 PKD1 PKD2 PKHD1 PRDM16 PRKCZ PRSS1 PRSS2 PTF1A PTRH2 RARB RBM8A RECQL4 RERE RFX6 RPGRIP1 RPGRIP1L SBDS SETBP1 SIK3 SKI SLC29A3 SLC37A4 SPEN SPINK1 SRP54 STAT3 STRA6 TCTN1 TCTN2 TCTN3 TELO2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 UBE4B VHL WDR19 WNT7B XPNPEP3 HP_ABNORMAL_PANCREAS_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_SIZE ABCC8 APPL1 BLK CDKN1C CEL CNOT1 DNAJC21 EFL1 FOCAD GATA6 GCK GLIS3 HNF1A HNF1B HNF4A IGF2 INS KCNJ11 KCNQ1 KCNQ1OT1 KLF11 LHX1 NEUROD1 PAX4 PDX1 PTF1A PTRH2 RARB RFX6 SBDS SLC29A3 SRP54 STAT3 STRA6 WNT7B HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY ACP5 ADA ADA2 AGA ALMS1 ALX1 ALX3 AMER1 ATM ATRX BLNK BTK C4B CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP74 CFI CFTR CIITA CLCA4 COL11A1 COL5A1 COL5A2 CR2 CSPP1 CTLA4 CTSK CXCR4 CYBA CYBB CYBC1 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DNMT3B DOCK8 DRC1 EDNRA EFL1 ELANE FCGR2A FCGR3A FLNA FMR1 FOXJ1 FUCA1 GAS2L2 GAS8 GCLC GSTM3 HFE HLA-DPA1 HLA-DPB1 HMOX1 HYDIN ICOS IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IKBKG IL17RA IL21R IL2RG IRF2BP2 IRF8 IVNS1ABP KCNJ2 KCNN4 LIG4 LRBA LRRC56 LRRC8A MAGT1 MAN2B1 MCIDAS MDM4 MGP MIF MPDU1 NBN NCF1 NCF2 NCF4 NEK10 NF1 NFKB1 NFKB2 NFKBIA NME5 NME8 NOTCH2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PDE11A PGM3 PIK3CD PIK3R1 PNP PRKAR1A PRKCD PRTN3 PSMB4 PSMB8 PSMB9 PTEN PTPN22 RAC2 RFX5 RFXANK RFXAP RNF168 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RUNX2 SASH3 SBDS SERPINA1 SFRP4 SH3KBP1 SIX2 SLC11A1 SLC26A9 SLC39A7 SLC6A14 SLC9A3 SMCHD1 SPAG1 SPEF2 SPI1 SRP54 STK36 STK4 STX1A STXBP2 TAP1 TAP2 TAPBP TBX1 TCF3 TGFB1 TMCO1 TNFRSF13B TNFRSF13C TNFRSF9 TRIM37 TTC12 UNC119 USB1 WAS WIPF1 ZMYND10 ZNF341 HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY ALX4 CREBBP EP300 EXT2 FGFR2 FGFR3 FIG4 KRAS MPDU1 MSX2 PGAP2 PGAP3 PHF21A PIGL PIGO PIGV PIGW PIGY POLR3A PPM1D PTCH1 PTPN11 RNU12 RPS19 RUNX2 TWIST1 VAC14 ZIC1 ZSWIM6 HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY ATP2A2 BTNL2 CXCR4 FGFR2 HLA-DRB1 PSMB8 TCOF1 TP63 HP_ABNORMAL_PATELLA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATELLA_MORPHOLOGY ANAPC1 ARF1 ARFGEF2 ARID1B ARVCF BAZ1B BCL7B BHLHA9 BPNT2 BUD23 CANT1 CDC45 CDC6 CDT1 CHRNG CHST11 CLIP2 COL12A1 COL1A1 COL2A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COMT CREBBP CSGALNACT1 DNAJC30 DNMT3A DONSON EBP EIF4H ELN EP300 ERMARD ESCO2 EXOC6B FBN2 FKBP10 FKBP6 FLNA FLNB FZD2 GDF5 GJB2 GJB6 GMNN GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA JMJD1C KAT6B KIF22 LIMK1 LMBR1 LMX1B MAB21L2 MAP1B METTL27 MLXIPL NCF1 NEDD4L NLRP3 NOTCH2 OCRL ORC1 ORC4 ORC6 PIEZO2 PITX1 PKDCC PLOD1 PRKACB PRMT7 RAB23 RBM8A RECQL4 RFC2 RNU4ATAC RREB1 RYR1 SEC24C SHH SHOX SLC26A2 SOX9 STX1A STXBP1 TBC1D7 TBL2 TBX1 TBX4 TMEM270 TMTC3 UBR7 UFD1 USP9X VPS37D WNT7A XYLT1 YY1 ZSWIM6 HP_ABNORMAL_PATTERN_OF_RESPIRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATTERN_OF_RESPIRATION AARS1 ABCA3 ABCC6 ABCC9 ABCD4 ABCG5 ABCG8 ACADM ACADS ACADSB ACADVL ACAT1 ACTA1 ACTA2 ACTC1 ACVRL1 ACY1 ADAM22 ADAMTS13 ADCY6 ADGRG1 ADNP AFF4 AGO2 AGR2 AGRN AHDC1 AHI1 AIFM1 AIP AK9 ALAS2 ALG12 ALMS1 ALPL AMER1 ANG ANXA11 AP3D1 APOB ARCN1 ARL13B ARL3 ARMC9 ARSB ARSL ARX ASAH1 ASCL1 ASNS ASXL1 ATN1 ATP11A ATP13A3 ATP1A2 ATP1A3 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATPAF1 ATPAF2 ATRX ATXN2 B3GALT6 B9D1 B9D2 BANF1 BAP1 BCHE BCOR BICD2 BMP2 BMPER BMPR2 BOLA3 BRAF BRAT1 BTD BTNL2 BUB1 BUB1B BUB3 C2CD3 CA2 CA5A CABP4 CACNA1A CACNA1C CACNA1H CACNA1I CACNA1S CACNA2D1 CAMK2B CASK CASR CAV1 CBY1 CC2D2A CCDC47 CCN2 CCNF CCR6 CDC42BPB CDC45 CDC6 CDK13 CDKL5 CDON CDT1 CEP104 CEP120 CEP290 CEP41 CEP57 CFAP410 CFL2 CFTR CHAMP1 CHAT CHCHD10 CHMP2B CHRNA1 CHRNA2 CHRNA4 CHRNB1 CHRNB2 CHRND CHRNE CISD2 CITED2 CIZ1 CLCN7 CLCNKB CLPB CNTNAP1 CNTNAP2 COA6 COA8 COL12A1 COL13A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COLQ COPA COQ2 COQ7 COX11 COX7B CPLANE1 CPT2 CREBBP CRH CRLF1 CRLS1 CRYAB CSF2RA CSF2RB CSPP1 CTNNB1 CTSD CTSK CYB5A CYB5R3 D2HGDH DAO DBH DCTN1 DDB1 DDC DEPDC5 DHX16 DISC1 DISP1 DKK1 DLL1 DMD DMPK DNA2 DNAAF3 DNAJB4 DNAJB6 DNAJC21 DNASE1L3 DOK7 DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM2 DPP9 DSC2 DSG2 DSP DST DYNC2LI1 DZIP1L ECHS1 EDA EDN1 EFTUD2 EIF2AK4 ELN ENG ENPP1 EOMES EP300 EPHA4 EPHB4 EPOR ERBB4 ERF ERGIC1 ETFA ETFB ETFDH EXOC2 EXT2 FAM13A FAM149B1 FAM20C FARS2 FARSB FBN1 FBP1 FBXO28 FDX2 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FIP1L1 FKRP FLCN FLNA FLNC FOXE3 FOXF1 FOXH1 FOXP3 FUS FXR1 FZR1 GAA GABBR2 GABRA1 GABRB3 GABRG2 GALC GAS1 GATA4 GATA5 GATA6 GBA1 GET3 GJA5 GLA GLE1 GLI2 GLRA1 GLS GLT8D1 GLUL GMNN GNA11 GNAI3 GNAS GNB2 GNE GNPTAB GOSR2 GPHN GPR101 GRB10 GRIK2 GRIN1 GRIN2A GSN GTPBP3 GUSB GYG1 H4C5 HACD1 HBB HCCS HDAC4 HEPHL1 HERC2 HEY2 HLA-B HLA-DPB1 HLA-DRB1 HLCS HMGCL HNRNPA1 HNRNPK HOXA1 HRAS HSPD1 HSPG2 HTRA2 HYLS1 IDH1 IDS IDUA IFIH1 IFNG IFT52 IFT74 IFT81 IGHMBP2 IKZF1 IL12B IL1RN IL6ST INPP5E IPO8 IRAK1 IRF2BP2 IRF5 IRF6 ISCU ITGA3 JAK2 JPH2 JRK KAT6A KAT6B KATNB1 KATNIP KCNA1 KCNA5 KCNE1 KCNE2 KCNJ11 KCNJ2 KCNJ3 KCNJ5 KCNJ6 KCNQ1 KCNQ2 KCNQ3 KCNT1 KIAA0586 KIAA0753 KIF20A KIF5A KIF7 KIT KLHL24 KLHL41 KLHL7 KRT16 KRT17 KRT6A KRT6B LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LARP7 LBX1 LDLR LDLRAP1 LGI4 LIAS LIFR LMNA LMOD3 LONP1 LOX LRP12 LRP4 LRPPRC LRRC32 LTBP3 LYRM4 LYRM7 MAGEL2 MAPT MARS1 MAT2A MATR3 MCCC1 MCM3AP MECP2 MED27 MEGF10 MFAP5 MGAT2 MGME1 MINPP1 MKRN3 MKS1 MLX MMAA MMAB MMACHC MMUT MOG MOGS MPC1 MPV17 MRPL3 MRPS34 MSX1 MT-ATP6 MT-ATP8 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTHFR MTM1 MUC5B MUSK MYBPC3 MYH11 MYH6 MYH7 MYL1 MYL2 MYL3 MYL4 MYLK MYO1H MYO9A MYOZ2 MYPN NAA10 NABP1 NACC1 NADK2 NAGS NALCN NAXE NCAPG2 NDE1 NDN NDUFA11 NDUFA2 NDUFA6 NDUFA8 NDUFAF2 NDUFB11 NDUFS1 NDUFS2 NDUFS4 NDUFS6 NDUFS8 NDUFV1 NEB NECTIN1 NEFH NEK1 NEMF NFIX NGLY1 NHLRC2 NKX2-1 NKX2-5 NKX2-6 NOD2 NODAL NONO NOTCH3 NPAP1 NPHP1 NPM1 NPPA NRXN1 NTNG1 NUMA1 NUP155 NUP214 OCA2 OFD1 OPA1 OPTN ORC1 ORC4 ORC6 OTX2 OXCT1 P4HTM PAM16 PARN PCCA PCCB PCGF2 PCK1 PCSK9 PDE6D PDHA1 PEX13 PEX5 PFN1 PGM1 PHOX2B PI4KA PIBF1 PIEZO2 PIGA PIGT PITX2 PKHD1 PKP2 PLA2G6 PLAA PLCB4 PLCH1 PLEC PLPBP PLXND1 PML PMM2 PNKD PNPLA2 POGZ POLG POLG2 POMT1 PON1 PON2 PON3 PPARGC1A PPP1R21 PRKAG2 PRKAR1A PRKAR1B PRKCSH PRKG1 PRMT7 PRNP PRPH PRPS1 PRR12 PRRT2 PRRX1 PSAP PSAT1 PTCH1 PTF1A PUF60 PURA PWAR1 PWRN1 PYGM RAB11B RAI1 RANBP2 RAPSN RARA RARS2 RBM10 RECQL4 REEP1 RELN RERE RET RHAG RHCE RHD RNF125 RNF13 RNU4ATAC RPGRIP1L RPS26 RPS28 RPS6KA3 RRM2B RTEL1 RUNX2 RYR1 SAT1 SATB2 SBDS SCN1B SCN2A SCN2B SCN3B SCN4A SCN4B SCN5A SCN8A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL2 SDCCAG8 SDHA SELENON SEPSECS SERPINA1 SERPING1 SERPINH1 SETBP1 SETD2 SFTPA1 SFTPA2 SFTPB SFTPC SH2B3 SH3BP2 SH3TC2 SHH SIK1 SIM1 SIN3A SIX3 SKI SLC12A3 SLC18A3 SLC1A3 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A20 SLC25A3 SLC25A4 SLC2A1 SLC2A10 SLC31A1 SLC34A2 SLC35A1 SLC39A8 SLC52A3 SLC5A7 SLC6A5 SLC6A9 SMAD2 SMAD3 SMAD4 SMARCAL1 SMC1A SMC5 SMPD1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX10 SOD1 SOX9 SPOP SPP1 SQSTM1 SRP54 SRPX2 SSR4 STAG2 STAT2 STAT3 STAT4 STAT5B STIL STING1 STN1 STT3B STX16 SUCLG1 SUFU SURF1 SYT1 SYT2 TAF15 TARDBP TBC1D24 TBK1 TBL1XR1 TBR1 TBX20 TBX4 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TERC TERT TET2 TFAM TFG TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THSD4 TINF2 TK2 TLK2 TLL1 TMEM107 TMEM126B TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNFSF11 TNNC1 TNNI3 TNNT1 TNNT2 TOE1 TOGARAM1 TOPORS TP63 TP73 TPI1 TPM2 TPM3 TRAK1 TREM2 TRIP11 TRIP13 TRMT10C TRMT5 TRMU TRPM4 TRPV4 TRPV6 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSPYL1 TTC19 TTN TUBB4A TWIST1 TWNK UBA1 UBE3B UBQLN2 UNC13A UNC80 UQCRC2 UQCRFS1 USP7 USP9X VAMP1 VAPB VCL VCP VPS33A VPS51 WAC WAS WDR45B WFS1 WIPF1 XPNPEP2 YARS2 ZBTB16 ZBTB7A ZC4H2 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZNF423 HP_ABNORMAL_PELVIC_GIRDLE_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIC_GIRDLE_BONE_MORPHOLOGY AARS1 ABCC6 ABCC9 ACP5 ACTA1 ADA ADAMTS2 ADAMTSL2 AEBP1 AFF3 AFF4 AGRN AIFM1 AKT1 ALDH18A1 ALG9 AMER1 ANKH ANKRD11 ANKRD55 ANTXR1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC APC2 ARNT2 ARSB ARSK ARX ATAD1 ATAD3A ATN1 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP B2M B3GALT6 B3GAT3 B3GLCT BAP1 BAZ1B BCL7B BGN BICD2 BICRA BIN1 BMP1 BMPER BMPR1B BPNT2 BRCA1 BRCA2 BRD4 BRIP1 BUD23 C12orf57 CANT1 CASZ1 CAV1 CBFB CCBE1 CCDC22 CCDC47 CCDC8 CCN2 CCN6 CCR6 CD247 CD96 CDCA7 CDON CENPE CENPJ CEP120 CEP152 CEP85L CFAP410 CFL2 CHAT CHD4 CHRM3 CHRNG CHST3 CLCN3 CLCN7 CLIP2 CLTCL1 CNOT3 COG1 COG6 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP COX8A CPLX1 CREBBP CRTAP CSGALNACT1 CSPP1 CTBP1 CTC1 CTSK CUL7 DCHS1 DDB1 DDR2 DDRGK1 DHCR7 DHODH DISP1 DLK1 DLL1 DMP1 DNA2 DNAJC21 DNAJC30 DPYSL5 DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP ECEL1 EED EFEMP2 EIF2AK3 EIF4A3 EIF4H ELN ENPP1 EP300 ERCC1 ERCC4 ERCC6 ERCC8 ERGIC1 ERLIN2 EVC EVC2 EXOC6B EXOSC3 EXT1 EXT2 EXTL3 EYA1 EZH2 F8 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAT4 FBLN1 FBLN5 FBN1 FBN2 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP6 FKRP FLI1 FLNA FLNB FN1 FOXH1 FRAS1 FREM2 FUT8 FUZ FZD2 GABRD GALNS GARS1 GAS1 GATA1 GDF5 GEMIN4 GET4 GJA1 GJB2 GJB6 GLB1 GLE1 GLI1 GLI2 GLI3 GLRA1 GLRB GMNN GMPPB GNB2 GNPAT GNPTAB GNPTG GNS GORAB GPC3 GPC4 GPHN GPX4 GRIP1 GSC GTF2I GTF2IRD1 GTF2IRD2 GUSB HACD1 HACE1 HDAC4 HDAC6 HDAC8 HEATR3 HERC2 HHAT HIVEP2 HK1 HLA-B HLA-DRB1 HNRNPH1 HNRNPK HNRNPR HOXA11 HPRT1 HS2ST1 HSPG2 HYAL1 IARS2 IDH1 IDS IDUA IFIH1 IFITM5 IFNGR1 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH IL2RA IL2RB IL6ST INPP5K INPPL1 INTU IPO8 IRF5 IRX5 ITGA7 KANSL1 KAT6B KCNAB2 KCNK4 KDM3B KDM6A KIAA0319L KIAA0586 KIAA0753 KIF1A KIF22 KLHL41 KMT2D LAMA5 LARGE1 LBR LEMD3 LETM1 LGI3 LGI4 LIFR LIMK1 LMNA LMNB2 LMOD3 LMX1B LONP1 LRP4 LRP5 LTBP1 LUZP1 LYSET MACF1 MAD2L2 MAGEL2 MAN2B1 MAP3K20 MAP3K7 MASP1 MATN3 MBD5 MBTPS1 MBTPS2 MCTP2 MECOM MED12 MEG3 METTL27 MKKS MKRN3 MLXIPL MMP13 MMP2 MMP23B MMP9 MRPS25 MTX2 MUSK MYBPC1 MYH3 MYH7 MYH8 MYL1 MYL11 MYL2 MYO18B MYO9A NAA10 NALCN NANS NCF1 NDN NEB NELFA NEPRO NFATC2 NFIX NGLY1 NIN NIPBL NKX3-2 NODAL NPAP1 NRCAM NSD1 NSD2 NSDHL NTRK1 NUP85 NXN OBSL1 OCA2 OCRL OGDHL ORC1 OSGEP OSTM1 P4HTM PAFAH1B1 PALB2 PAM16 PCNT PCYT1A PDPN PEPD PEX5 PGAP2 PGAP3 PHEX PHF6 PHIP PI4KA PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGV PIGW PIGY PIK3C2A PLCB3 PLCH1 PLEKHM1 PLK4 PLOD1 PNPT1 POC1A POLR1A POLR3A POLR3B POMT1 POMT2 POP1 POR PORCN PPP2R1A PPP2R3C PPP2R5D PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKACB PRKCZ PTCH1 PTEN PTH1R PTPN2 PTPN22 PTRH2 PUF60 PWAR1 PWRN1 PYCR1 PYCR2 RAB11B RAB23 RAB33B RAD21 RAD51 RAD51C RBBP8 RBM8A RECQL4 RERE RETREG1 RFC2 RFWD3 RINT1 RIPK4 RMRP RNF13 RNU4ATAC ROR2 RPS15A RPS19 RPS6KA3 RSPO2 RSPRY1 RTL1 RUNX2 RYR1 RYR3 SATB2 SBDS SCN4A SCN9A SCYL2 SEC23A SEC24D SEC31A SELENON SERPINF1 SETBP1 SETD2 SF3B4 SH3PXD2B SH3TC2 SHH SHOX SHPK SHROOM4 SIK3 SIL1 SIM1 SIX1 SIX3 SKI SLC10A7 SLC12A2 SLC18A3 SLC25A1 SLC26A2 SLC2A10 SLC35A2 SLC35A3 SLC35D1 SLC39A13 SLC5A7 SLC6A5 SLC6A9 SLX4 SMAD3 SMAD4 SMARCA2 SMARCAL1 SMC1A SMC3 SMO SMOC1 SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SOST SOX9 SPARC SPEG SPEN SRCAP SRP54 STAG2 STAT4 STIL STX1A SYT2 TAF1 TBCD TBL2 TBX15 TBX4 TBXAS1 TCTN3 TDGF1 TELO2 TET3 TFE3 TGFB1 TGFB2 TGFBR2 TGIF1 THOC2 THRA TIMM22 TMEM270 TMEM53 TMEM67 TNFRSF1A TNNI2 TNNT1 TNNT3 TONSL TOR1A TPM2 TPM3 TRAF3IP1 TRAIP TRAPPC11 TRAPPC12 TRAPPC2 TRIM8 TRIP11 TRPM3 TRPS1 TRPV4 TTC21B TTN TWIST1 TWIST2 UBA1 UBA2 UBE2T UBE3B UBE4B UFSP2 UMPS UNC45A UNC80 USP7 USP9X VAC14 VAMP1 VANGL1 VCP VDR VIPAS39 VPS13B VPS33A VPS33B VPS35L VPS37D WASHC5 WDR19 WDR26 WDR35 WNK1 WNT3 WNT5A WNT7A XRCC2 XYLT1 YWHAE ZBTB20 ZC4H2 ZIC2 ZIC3 ZMPSTE24 ZNF407 ZNF469 HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY ATP7A B3GLCT BGN BMPER COL11A2 DYM ERCC6 ERCC8 EXT1 EXT2 FGFR2 FIG4 IDUA LEMD3 MBTPS2 PCNT POR PTH1R RSPRY1 TRIP11 TRPV4 VAC14 HP_ABNORMAL_PELVIS_BONE_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION CBFB COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 FGFR2 FIG4 GJB2 GJB6 GSC IFT80 LBR LEMD3 NKX3-2 RUNX2 SIK3 WDR35 HP_ABNORMAL_PENIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PENIS_MORPHOLOGY ABCA4 ABL1 ACTA1 ACTB ADA2 ADAR ADAT3 AFF4 AGBL5 AHI1 AHR AIP AKT1 ALG12 ALKBH8 ALMS1 ALX4 ANK1 ANKRD11 ANOS1 APC2 AR ARCN1 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARL6IP6 ARNT2 ARVCF ARX ATAD3A ATP6AP2 ATP6V1A ATP6V1E1 ATR ATRX AXL B3GALNT2 B3GLCT B4GAT1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BDNF BEST1 BICRA BLTP1 BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1B BUD23 C2CD3 CA4 CAMK2A CARS1 CASK CASZ1 CC2D2A CCDC141 CCDC22 CCDC28B CCDC8 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDHR1 CDKL5 CDKN1C CDON CDT1 CENPT CEP152 CEP19 CEP290 CEP41 CERKL CFAP418 CHD4 CHD7 CHRNA3 CHRNG CILK1 CLIP2 CLMP CLRN1 CNGA1 CNGB1 COG1 COG5 COL3A1 COL4A1 COLEC10 COLEC11 COMT COX7B CPE CPLX1 CRB1 CREBBP CRPPA CRX CSPP1 CTBP1 CTC1 CTCF CTU2 CUL4B CUL7 CUX1 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP21A2 DACT1 DAG1 DCAF17 DCC DCHS1 DCX DDX6 DHCR7 DHDDS DHODH DHX37 DHX38 DIS3L2 DISP1 DKC1 DLL1 DLL3 DMRT3 DMXL2 DNAJC19 DNAJC30 DPF2 DPP9 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 ECE1 EED EFNB1 EHMT1 EIF2S3 EIF4H ELN EP300 EPG5 ERCC2 ERCC4 ERCC6 ERCC8 ERMARD ESCO2 EVC EVC2 EXT2 EYS EZH2 FAM111A FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXL4 FDFT1 FERMT1 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FGFRL1 FIG4 FKBP6 FKRP FKTN FLNA FLRT3 FOCAD FOXC1 FOXF1 FOXH1 FRAS1 FREM2 FSCN2 FZD2 GABRD GAS1 GATA1 GATA4 GATAD2B GH1 GHR GLI1 GLI2 GLI3 GLYCTK GMNN GMPPB GNA11 GNAO1 GNB2 GNRH1 GNRHR GP1BB GPC3 GPC4 GPR101 GPR161 GRB10 GRIA3 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C11 H4C9 HBA1 HBA2 HCCS HDAC8 HEATR3 HEPACAM HERC1 HERC2 HES7 HESX1 HGSNAT HID1 HIRA HMGA2 HNF1B HNRNPH1 HNRNPR HOXA13 HOXD13 HS6ST1 HSD3B2 HSPG2 HUWE1 HYLS1 IDH3A IDH3B IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGF2 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INSR INTU ISL1 JMJD1C KANSL1 KAT5 KAT6B KATNIP KCNA1 KCNAB2 KCNH1 KDM1A KDM3B KDM5B KDM5C KDM6A KIAA0586 KIAA0753 KIAA1549 KIF7 KIFBP KISS1 KISS1R KIZ KLF1 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KMT2D KRAS KRT5 LAMA5 LARGE1 LEP LETM1 LFNG LHB LHCGR LHX4 LIG4 LIMK1 LMNA LMNB2 LMOD3 LMX1B LRAT LRPPRC LSM11 LSS LUZP1 LZTFL1 MAB21L2 MAD2L2 MADD MAGEL2 MAK MAMLD1 MAP2K1 MAP3K1 MAPRE2 MBD5 MBTPS2 MCTP2 MECP2 MED12 MED12L MED25 MEGF8 MERTK MESP2 METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MNX1 MTM1 MTOR MYH3 MYMK MYMX MYRF NAA10 NCF1 NDNF NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NEK1 NEK2 NELFA NEUROD2 NHLH2 NHP2 NIPBL NKX2-1 NODAL NOP10 NOTCH2 NPAP1 NPHP1 NPM1 NR0B1 NR2E3 NR5A1 NRL NSD1 NSD2 NSMF NSUN2 NXN OBSL1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PAICS PALB2 PARN PAX6 PBX1 PCARE PCNT PDE4D PDE6A PDE6B PDE6G PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF21A PHF6 PIEZO2 PIGA PIGG PIGN PIGP PIGQ PIK3CA PITX2 PLAG1 PNKP PNPLA6 POFUT1 POGLUT1 POLE POLR1B POLR1C POLR1D POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PPP1R12A PQBP1 PRCD PRDM13 PRDM16 PRKACA PRKACB PRKCZ PRKDC PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRX1 PSENEN PSMC1 PSMD12 PSPH PTCH1 PTDSS1 PTEN PTPN11 PTPRF PUF60 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RBBP8 RBP3 RDH12 REEP6 RERE RFC2 RFWD3 RGR RHO RIPK4 RIPPLY2 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU12 RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPO1 RSPO2 RTEL1 RTTN RXYLT1 RYR1 SAG SALL1 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCLT1 SCN1B SCN2A SCUBE3 SDCCAG8 SDHB SDHC SDHD SEC23B SEC24C SEMA3A SEMA3E SEMA4A SETBP1 SETD2 SETD5 SGPL1 SHH SIAH1 SIK1 SIM1 SIN3A SIX3 SIX6 SKI SKIC3 SLC25A10 SLC25A22 SLC25A24 SLC29A3 SLC31A1 SLC32A1 SLC7A14 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMS SNORD115-1 SNORD116-1 SNRNP200 SOX10 SOX11 SOX2 SOX3 SOX4 SOX9 SPATA7 SPEN SPRED1 SPRY4 SPTBN1 SRA1 SRCAP SRD5A2 SRY SSR4 STAR STT3A STT3B STX1A STXBP1 SUCLG1 SUFU SUZ12 SYNGAP1 TAC3 TACR3 TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBX1 TBX22 TBX3 TCF12 TCF4 TCOF1 TDGF1 TERC TERT TFAP2A TGIF1 THOC2 THOC6 TINF2 TMEM270 TMEM63A TMEM70 TMEM94 TOE1 TOGARAM1 TONSL TOPORS TP63 TREX1 TRIM32 TRIM8 TRPM3 TRRAP TSPYL1 TSR2 TTC8 TUB TUBB TULP1 TWIST2 TYMS UBA1 UBE2A UBE2T UBE4B UBR1 UBR7 UFD1 USB1 USF3 USH2A USP7 USP9X VAC14 VAMP7 VPS35L VPS37D WASHC5 WDPCP WDR11 WDR35 WNT4 WNT5A WNT7A WRAP53 WT1 WWOX XRCC2 XRCC4 YWHAE ZEB2 ZFPM2 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF408 ZNF513 ZNF699 ZPR1 HP_ABNORMAL_PERIAURICULAR_REGION_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIAURICULAR_REGION_MORPHOLOGY ALX1 ALX3 ANK1 ANKRD11 ARID1B AUTS2 B3GLCT BCOR BRF1 CCDC22 CHD7 CHN1 CITED2 COL2A1 CPLX1 CTBP1 CTNND2 DACT1 DICER1 DPYSL5 EDN1 EDNRA EFTUD2 EIF2AK3 EXT2 EYA1 FGFR1 FGFR2 FGFRL1 FLNA FLNB FLT4 FN1 GATA4 GATA5 GATA6 GDF1 GJA5 GNAI3 GPC3 GPC4 GSC H4C3 H4C5 H4C9 HK1 HNRNPK HNRNPU IRX5 JAG1 KAT6A KCNJ2 KDM6A KDR KIF7 KMT2D KRAS LETM1 LRP1 LRP5 MAFB MED12 MED13L MID1 MITF MSL3 NAA10 NKX2-5 NKX2-6 NPHP3 NSD2 ODC1 PAX1 PIGS PLCB4 POLR1B POLR1C POLR1D PPP1CB PRMT7 RAB23 SALL1 SALL4 SEMA3E SEMA5A SF3B2 SF3B4 SIX1 SIX5 SMARCA2 SNRPN SPECC1L STAG2 SVBP SYK TASP1 TBX1 TCOF1 TFAP2A TMEM260 TRPM3 TXNL4A UBE2A UBE3B VPS13B VPS35L WASHC5 WBP11 WLS XYLT2 ZFPM2 ZNF462 ZNF668 HP_ABNORMAL_PERICARDIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY ABCC6 ABCC9 ACADVL ADAMTS3 AEBP1 ALG9 BLTP1 C4A CALCRL CCBE1 CCR1 CDH23 CLCNKB CTLA4 DNASE1 DNASE1L3 DPH5 EIF2AK4 ENPP1 EPHB4 ERAP1 FAS FAT4 FCGR2A FCGR2B GATA6 GBA1 HBA1 HBA2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6 IRAK1 IRF4 ITK KLRC4 LACC1 LCK LETM1 LMNA LYST MAF MCM10 MEFV MIF MTO1 MYBPC3 MYRF NOD2 P4HA2 PLVAP PMM2 PRG4 PRKAG2 PRTN3 PTPN14 PTPN22 RNU7-1 SAT1 SCARB2 SLC12A3 SMAD4 SPP1 STAT4 TCTN2 TLR4 TNFRSF1A TREX1 TRIM37 TSC1 TSC2 UBAC2 UQCRFS1 HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY HLA-DRA KRT81 KRT83 KRT86 LRP1 MBTPS2 HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY COL1A1 FAM20C FGFR2 GALNT3 IL1RN KL SLCO2A1 TRPV6 HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE ALS2 ATL1 ATL3 ATXN1 BSCL2 CADM3 CCT5 DHX16 DNAJB6 EMILIN1 FXN GDAP1 HK1 HSPB8 KARS1 LITAF LMNA MORC2 MPV17 NDRG1 NEFL PMP2 RAB7A RFC1 SBF2 SETX SIGMAR1 SORD SPTLC1 SPTLC2 SYT2 TFG TRPV4 UBA1 UQCRC1 VAMP1 VPS13A HP_ABNORMAL_PERIPHERAL_MYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_MYELINATION ABCA1 ADCY6 AFG3L2 APTX ARHGEF10 ARSA ASXL1 COQ7 COX6A1 CTDP1 DCAF8 DHH DHX16 DNM2 DNMT1 EGR2 ELP1 ERCC6 ERCC8 FA2H FGD4 FIG4 FLRT1 FLVCR1 GALC GAN GBF1 GCDH GDAP1 GJB1 GNB4 HACE1 HK1 HSPB8 HYCC1 INF2 JPH1 KCNJ10 KIF1A KIF1B KIF1C KLC2 LIG3 LITAF LMNA LMNB1 LRPPRC MAT1A MFN2 MMACHC MME MOCS1 MOCS2 MORC2 MPV17 MPZ MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTMR2 MTRFR MTTP NDRG1 NEFL NGF NTRK1 PEX16 PLEKHG5 PLP1 PMP2 PMP22 PNPT1 POLG PRPS1 PRX PSAP RAB7A RAI1 RETREG1 RRM2B SACS SBF1 SBF2 SCN9A SH3TC2 SLC12A6 SOX10 SPG11 SPTBN1 SPTLC1 SUMF1 SURF1 TDP1 TFG TRIM2 TWNK TYMP TYROBP UBTF VPS13A WNK1 YARS1 ZNHIT3 HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY AAAS AARS1 ABCA1 ABCC8 ABCD1 ACOX1 ACTA1 ADA2 ADCY6 ADGRG1 ADNP ADPRS AFG3L2 AGRN AGTPBP1 AIFM1 AK9 AKT1 ALDH18A1 ALG12 ALG14 ALG2 ALS2 AMER1 AMPD2 ANKH ANO5 ANTXR1 ANXA11 APC APTX ARHGEF10 ARMC5 ARSA ASAH1 ASCC1 ASCL1 ASXL1 ATAD3A ATL1 ATL3 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP7A ATRX ATXN3 B2M BAG3 BAP1 BDNF BICRA BIN1 BMS1 BRAF BTNL2 C19orf12 C9orf72 CA2 CACNA1A CAPN1 CAPN3 CCM2 CCND1 CCT5 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CEP126 CFL2 CHAT CHCHD10 CHD7 CHKB CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CLCN7 CNTNAP1 COA7 COASY COCH COG8 COL12A1 COL13A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ COQ6 COQ7 COX20 COX6A1 CPLANE1 CRLF1 CRPPA CRYAB CTDP1 CTSD CYP27A1 CYP2U1 DARS2 DAXX DCAF8 DCTN1 DDHD1 DES DGUOK DHH DHX16 DKK1 DLL4 DLST DMPK DNAJB6 DNM2 DNMT1 DNMT3A DOK7 DPAGT1 DYNC1H1 EDN3 EGR2 ELOVL4 ELOVL5 ELP1 EPAS1 ERBB2 ERCC6 ERCC8 EXOSC3 EXOSC8 EXOSC9 EXT1 EXT2 EYA1 FA2H FBLN5 FGD4 FGF14 FGF3 FH FIG4 FKRP FKTN FLNC FLRT1 FLVCR1 FRG1 FUS FXN GALC GAN GBA2 GBE1 GBF1 GCDH GCGR GCK GDAP1 GDF3 GDF6 GDNF GFPT1 GJA1 GJB1 GJC2 GLE1 GMPPA GMPPB GNAQ GNAS GNB2 GNB4 GNE GRN GSN HACE1 HARS1 HEXB HINT1 HK1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HOXB1 HRAS HSPB1 HSPB8 HYCC1 IBA57 IFNG IFRD1 IGHMBP2 INF2 INS ITGB4 JPH1 KARS1 KBTBD13 KCNJ10 KCNJ11 KCNK9 KIF1A KIF1B KIF1C KIF5A KIT KLC2 KLHL40 KLHL41 KLHL9 KMT2D KPNA3 KRAS KRIT1 KY LAMA2 LAMB2 LARGE1 LBX1 LIG3 LITAF LMNA LMNB1 LMOD3 LRP1 LRP12 LRP4 LRP5 LRPPRC LRSAM1 LZTR1 MAFA MAPT MARS1 MAT1A MATR3 MAX MBD4 MCM3AP MDH2 MEGF10 MEN1 MEOX1 MFN2 MGME1 MICU1 MLH1 MMACHC MME MOCS1 MOCS2 MORC2 MPV17 MPZ MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTM1 MTMR14 MTMR2 MTRFR MTTP MUSK MYF6 MYH7 MYL2 MYMK MYMX MYO1H MYO9A MYPN NAGA NDRG1 NEB NEFH NEFL NEMF NF1 NF2 NFU1 NGF NGLY1 NOD2 NR3C1 NTRK1 OPA1 OSTM1 OTX2 PABPN1 PDCD10 PDE11A PDGFB PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PI4KA PIEZO2 PIGB PIK3CA PIK3R5 PLA2G6 PLD3 PLEC PLEKHG4 PLEKHG5 PLEKHM1 PLOD1 PLP1 PLXNA1 PLXND1 PMP2 PMP22 PNPLA6 PNPT1 POLG POLG2 POMT1 POMT2 PRICKLE1 PRKAR1A PRNP PRPH PRPS1 PRRT2 PRRX1 PRX PSAP PSEN1 PTDSS1 PTRH2 PUF60 RAB7A RAI1 RAPSN REEP1 RET RETREG1 REV3L RFC1 RNF170 RNF220 RNF43 RRM2B RYR1 SACS SALL4 SAMD9L SBF1 SBF2 SCN1A SCN4A SCN9A SCO2 SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA3E SEPTIN9 SERPING1 SETX SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A11 SLC25A19 SLC25A21 SLC25A4 SLC25A46 SLC29A3 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMN1 SMN2 SMO SNAP25 SNX10 SOD1 SOST SOX10 SPEG SPG11 SPG7 SPRED1 SPTBN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRPX2 STAG2 STAT3 SUCLA2 SUFU SUMF1 SUPT16H SURF1 SYNE1 SYT2 TARDBP TBCD TBCE TBK1 TBL1XR1 TCIRG1 TDP1 TERT TFAP2A TFG TGFB1 TK2 TMEM106B TMEM127 TMEM53 TNFRSF11A TNFSF11 TOR1A TP53 TPM2 TPM3 TRAF7 TRAPPC11 TREM2 TRIM2 TRIM32 TRIP4 TRPM7 TRPV4 TSC1 TSC2 TTC19 TTN TTR TUBB3 TUBB6 TWNK TXN2 TYMP TYROBP UBA1 UBA2 UBE2T UBQLN2 UBTF UCHL1 USP48 USP8 VAMP1 VCP VHL VPS13A VPS13D VPS41 VRK1 VWA1 WARS1 WDR48 WFS1 WNK1 XK XRCC2 XRCC4 YARS1 YME1L1 YY1 ZC4H2 ZFHX4 ZFYVE26 ZNHIT3 HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY AARS1 ABCD1 ABHD12 AIFM1 ALS2 ARHGEF10 ARHGEF2 ARSA ATL1 ATL3 ATP11A ATP7B ATXN1 ATXN10 BSCL2 CACNA1S CADM3 CCT5 CEP126 CHCHD10 CNTNAP1 COMP CPLANE1 CTDP1 CYP27A1 DCAF8 DEGS1 DHH DHX16 DIAPH3 DNAJB6 DNAJC3 DNM2 EBP EDNRB EGR2 EMILIN1 EPM2A ERCC3 ERCC4 ERCC6 ERCC8 FBLN5 FBN1 FBXO38 FGD4 FIG4 FLNC FLVCR1 FXN GABRA3 GALC GARS1 GDAP1 GFM2 GJB1 GJC2 HIKESHI HINT1 HK1 HPDL HSD17B4 HSPB1 HSPB8 HYCC1 IDUA IGHMBP2 ITPR3 JPH1 KARS1 KCNJ18 KIF1A KIF1B LAMA2 LIG3 LITAF LMNA LMNB1 LRSAM1 LTBP3 LYST MARCHF6 MATR3 MED25 MEGF10 MFF MFN2 MOGS MORC2 MPV17 MPZ MTMR2 MTRFR MYH14 MYH3 NALCN NDRG1 NEFL NEU1 NFASC NGLY1 NHLRC1 NMNAT1 NOTCH2NLC NPTX1 NTRK1 OPA1 OTOF PDK3 PEX6 PLA2G6 PLEKHG5 PLP1 PMP2 PMP22 PNKP PNPT1 POLG PRDX3 PRPS1 PRX PSAP PTRH2 RAB7A RAI1 REEP1 RETREG1 RFC1 RIPOR2 RRM2B SACS SAMD12 SAMD9L SBF1 SBF2 SCN9A SCP2 SEMA6B SETX SH3TC2 SIGMAR1 SLC12A6 SLC25A15 SLC5A7 SNAP29 SORD SOX10 SPG21 SPTBN4 SPTLC1 SPTLC2 STARD7 SUCLA2 SUMF1 SYT2 TBC1D20 TBC1D24 TDP1 TFG TIMM8A TPI1 TRIM2 TRPV4 TTPA TYMP UBA1 UQCRC1 VAMP1 VCP VPS13A WNK1 YARS1 YEATS2 YME1L1 HP_ABNORMAL_PERISTALSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERISTALSIS AAAS ACTA2 ACTB ACTG2 CLMP COL4A5 COL4A6 FLVCR1 GLA GMPPA GUCY1A1 IARS2 IVNS1ABP LMOD1 MEIS2 MYH11 MYL9 MYLK MYO1H PHOX2B RAD21 SAMD9 STAT3 TRAPPC11 HP_ABNORMAL_PERITONEUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERITONEUM_MORPHOLOGY ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BCL2 BCL6 BRCA1 BRCA2 CALR CD2AP CDC45 CDKN2A CFB COL4A3 COQ8B CRB2 DAAM2 ELANE ELP1 EMP2 EWSR1 F10 F5 FOCAD GAPVD1 HLA-DRB1 INF2 JAK2 KRAS MAGI2 MEFV MVK MYH11 MYO1E NAB2 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PALB2 PALLD PAX2 PI4KA PLCE1 PTPRO RABL3 SERPINE1 SLC29A3 SMAD4 STAT6 TBC1D8B TNFRSF1A TP53 TRPC6 TTC7A WT1 HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY AARS1 AARS2 ABCC9 ABCD1 ABHD16A ACP5 ACTA2 ACTL6B ALDH18A1 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARHGAP31 ARID2 ARSA ATP13A2 BRF1 CA2 CARS1 CDC42 CDK13 CLCN4 CLN5 CLPB CNBP CNKSR2 CNP CNTNAP2 COL4A1 CPLX1 CTBP1 CYP27A1 DDHD2 DEGS1 DLL4 DNM1L DOCK6 DPM2 DPM3 EDEM3 EOGT ERCC2 ERCC3 FA2H FARSA FCSK FGFRL1 FKRP GALC GFAP GM2A GMPPB GNB2 GTF2E2 GTF2H5 HIKESHI HK1 ISCA2 KCNN2 LAMA1 LARGE1 LETM1 LIPT2 LMX1B LONP1 LYRM7 MEF2C MMACHC MORC2 MPLKIP MTHFR NDUFC2 NEUROD2 NOTCH1 NRCAM NRROS NSD2 OCRL ODC1 OGDHL OPA1 PAK1 PC PDHA1 PDHB PDHX POMT1 POMT2 PPFIBP1 PRORP PRR12 PSAP PUF60 RAB3GAP2 RAC1 RBPJ RFWD3 RNF113A RPL10 RTTN SELENOI SEPSECS SHANK3 SON SPATA5L1 SPG11 SPG21 SSR4 STRADA STXBP1 SUGCT SUMF1 TARS1 TBCK TET3 TMEM222 TPRKB TREX1 TRMT1 TRPM3 TSEN54 UBA1 UQCC3 USP7 VPS11 WARS2 HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ALX1 ALX3 ANTXR2 APC2 ARID1B ARPC4 ASPN ASXL3 BCOR BCR CANT1 CAPN3 CASZ1 CCBE1 CCDC22 CCN6 CD244 CDC45 CDC6 CDT1 CFTR CHRNG CHST3 CIITA CLCF1 COG5 COL11A1 COL11A2 COL12A1 COL1A1 COL2A1 COL6A1 COL6A2 COL6A3 CRKL CRLF1 CSGALNACT1 CTDP1 CUL4B DHODH DLL3 DOK7 DVL1 DVL3 EED EFNB1 EMG1 ERCC1 ERCC2 ERCC5 ERCC6 EZH2 FAT4 FBN1 FBN2 FBXO28 FERMT1 FGD1 FGF9 FGFR1 FGFR3 FKTN FLNA FZD2 GABRD GDAP1 GDF5 GJA1 GMNN GNPTAB GON7 GPC3 GPC4 GPKOW H4C9 HES7 HINT1 HOXD13 HSPG2 IDS IDUA IGHMBP2 IKBKG IL10 IL6ST IPO8 KAT6A KAT6B KCNAB2 KCNK9 KDM5B KDM5C KIF21A KRT14 L1CAM LAGE3 LAMB3 LFNG LIFR LMBR1 LMNA LUZP1 MAFB MAP3K7 MAPK1 MATN3 MBTPS2 MED12 MED25 MEGF10 MESP2 MKS1 MMP2 MMP23B MORC2 MUSK MYBPC1 MYH3 MYL11 MYOD1 NAA10 NALCN NEDD4L NFKBIL1 NLRP3 NOD2 NOG NSD1 NUP107 NUP133 NUP88 NXN OCRL ORC1 ORC4 ORC6 OSGEP PAX3 PCGF2 PDPN PEX1 PEX6 PIEZO2 PIGL PLOD3 POLR3A POLR3GL PORCN PRDM16 PRG4 PRKCZ PSMB8 PTPN22 RAB33B RAB3GAP1 RAPSN RERE RIPPLY2 ROR2 RPL10 RTTN SALL4 SCARF2 SCN4A SETD2 SH3PXD2B SHH SKI SLC18A3 SLC22A4 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SMAD3 SMARCA2 SMARCA4 SMARCAD1 SMC1A SMG9 SMOC1 SPEN SUZ12 TBC1D2B TBR1 TBX2 TBX3 TCTN3 TDO2 TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMEM70 TNNI2 TNNT3 TOR1AIP1 TP53RK TPM2 TPRKB TRAPPC2 TRPS1 TRPV4 TUBA1A TUBB3 TWIST2 UBE4B UPF3B WDR4 WDR73 WFS1 WNT5A XYLT1 YRDC ZDHHC9 ZMPSTE24 ZNF407 HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA ABCC6 ABCD1 ATRX BANK1 BLK BRAF C4A C4B CDH23 CR2 CTLA4 DNASE1 ETS1 FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L KRT14 MECP2 MTX2 NR3C1 PDCD1 PTPN22 PXK SPP1 STAT4 STK11 TLR7 TNFAIP3 TNFSF4 TNIP1 TP53 TREX1 UBE2L3 USP48 USP8 XYLT1 XYLT2 HP_ABNORMAL_PINEAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PINEAL_MORPHOLOGY ADNP BPTF GALNT2 INSR KANSL1 KRAS NONO PNPLA2 PSMD12 VAX1 WDR26 HP_ABNORMAL_PITUITARY_GLAND_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PITUITARY_GLAND_MORPHOLOGY AAAS ABCD1 ACP5 ADAT3 ADGRG1 ADNP AFF4 AIP AKT1 ALG5 ALG9 ALMS1 ALX3 ANOS1 APC APOA5 AR ARMC5 ARNT2 ATRX B3GLCT BAP1 BICC1 BMP15 BMP4 BMPR1A BMPR1B BNC1 BPTF BRAF BRCC3 BTK C14orf39 CATIP CBX2 CCDC141 CCDC34 CDC42BPB CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEP57 CFTR CHD7 CLPP CNBP COG2 COQ6 CT55 CTNNB1 CTSK CYB5A CYP11A1 CYP17A1 DBH DCAF17 DCC DHH DHX37 DIAPH2 DISP1 DLL1 DMRT3 DMXL2 DNAH10 DNAJB11 DNAJC21 DNHD1 DUSP6 DYRK1A EDA EDA2R EFL1 EIF2S3 EPCAM ERCC6 ERF ESCO2 ESR1 ESR2 FAN1 FANCF FANCI FANCM FARSA FBXO43 FEZF1 FGD1 FGF17 FGF8 FGFR1 FIGLA FKBP6 FLNB FLRT3 FMR1 FOXA2 FOXH1 FOXL2 FSHB FSHR GAN GANAB GAS1 GATA4 GATA6 GCNA GDF9 GH1 GHRHR GHSR GLI2 GLI3 GMNN GMPPA GNAS GNB2 GPR101 GPR161 GRB10 GRM7 HBB HERC2 HESX1 HFM1 HID1 HPGD HS6ST1 HSD17B4 HSD3B2 IARS2 IDH1 IDH2 IFNG IFT140 IGF1 IGF2 IGSF1 IKBKG IL17RD KANSL1 KATNIP KCNJ11 KIAA0753 KISS1R KLHL10 KMT2A KRAS LARS2 LEP LEPR LHB LHCGR LHX3 LHX4 LZTR1 MADD MAGEL2 MAP2K2 MAP3K1 MAST3 MCM4 MCM8 MCM9 MED12 MEIOB MEN1 MKRN3 MLH1 MLH3 MOV10L1 MPDU1 MRPS22 MSH2 MSH4 MSH5 MSH6 MSTO1 MT-ATP8 MT-TL1 MTHFR NANOS1 NDE1 NDN NDNF NF2 NFKB2 NFKBIA NKX2-1 NODAL NONO NPAP1 NR0B1 NR3C1 NR5A1 NSMCE2 NUP107 OCA2 OTX2 PCSK1 PDE11A PDGFB PDHA2 PI4KA PIK3CA PITX2 PKD1 PKD2 PLCH1 PMM2 PMS1 PMS2 PNLDC1 PNPLA6 POLA1 POLE POLR3A POLR3GL POLR3H POMC POR POU1F1 POU3F4 PPP2R3C PREPL PRKAR1A PRLR PROK2 PROKR2 PROP1 PSMC3IP PSMD12 PTCH1 PTDSS1 PUF60 PUS1 PWAR1 PWRN1 RBM28 RFWD3 RNF113A RNF212 RNPC3 ROBO1 RPL10L RPS20 RRAS2 RRM2B SBDS SEMA3A SEMA3E SEMA4A SHH SHOC1 SIM1 SIN3A SIX3 SIX6 SLC29A3 SLC7A7 SLCO2A1 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX11 SOX2 SOX3 SOX9 SPAG17 SPIDR SPRY4 SRD5A3 SRP54 SRPX2 SRY STAG2 STAG3 STAT5B STIL STX16 SUFU SYCE1 SYCP3 TACR3 TAF4B TBCE TBCK TBX19 TBX2 TBX3 TDGF1 TDRD9 TERB1 TERB2 TERT TEX11 TEX14 TEX15 TGFBR2 TGIF1 THOC2 TMCO1 TMEM67 TP53 TP63 TRAF7 TRAPPC11 TRHR TSC1 TSC2 TSHB TTC26 USP48 USP8 VAMP7 VANGL2 VPS13B VSX1 WASHC5 WDR11 WDR4 WT1 WWOX XRCC2 YY1 ZFPM2 ZIC2 ZMYND15 ZNF148 ZNRF3 ZSWIM6 ZSWIM7 HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY ATP6V1B2 FERMT1 GJA1 GJB2 GLE1 KANK2 KRT1 LORICRIN POMP SMARCAD1 TBC1D24 TP63 TRPV3 ZMPSTE24 HP_ABNORMAL_PLACENTAL_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_SIZE CDKN1C DLK1 HMGA2 HSPG2 IGF1 IGF2 LBR LMNA MEG3 MKS1 MUSK PHGDH PLAG1 RTL1 SKIC3 ZMPSTE24 HP_ABNORMAL_PLACENTA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTA_MORPHOLOGY BCL10 CD46 CDKN1C CDKN2A CFH CFI CHEK2 CORIN DLK1 FANCF FGFR3 FLT1 GLB1 HELLPAR HMGA2 HSPG2 HYMAI IGF1 IGF2 KCNQ1 KCNQ1OT1 KIT LBR LMNA MDM2 MEG3 MKS1 MUSK PHGDH PLAG1 PLAGL1 RTL1 SKIC3 SPTBN1 STK11 STOX1 TP53 ZMPSTE24 HP_ABNORMAL_PLATELET_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_FUNCTION ABCG8 ACTN1 AP3B1 BLOC1S3 BLOC1S5 BLOC1S6 CALR CBL CISD2 DIAPH1 DTNBP1 EPHB2 FLI1 GATA1 GFI1B GNAS GP1BA GP1BB GP6 GP9 GUCY1A1 HPS3 HPS5 HPS6 IKZF5 ITGA2B ITGB3 KCNJ1 KRAS LCP2 LYST LZTR1 MGAT2 MRAS MYH9 NBEAL2 NRAS P2RY12 PLA2G4A PLAU PTPN11 RAF1 RASA2 RASGRP2 RIT1 RRAS RRAS2 RUNX1 SAMD9L SH2B3 SLC35A1 SOS1 SOS2 SPRED2 TBXA2R THPO TUBB1 VWF WAS WIPF1 HP_ABNORMAL_PLATELET_GRANULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_GRANULES AP3B1 BLOC1S5 GATA1 GFI1B HPS3 HPS4 HPS5 HPS6 IKZF5 LYST NBEAL2 RUNX1 SLC35A1 HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION GP1BA GP1BB GP9 ITGA2B ITGB3 SLC35A1 HP_ABNORMAL_PLATELET_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_VOLUME ABCG8 ACTN1 ANKRD26 ARPC1B CD36 CDC42 COG1 CYCS DIAPH1 FLI1 FLNA FYB1 GATA1 GFI1B GP1BA GP1BB GP9 ITGA2B ITGB3 LBR MYH9 PRKACG SC5D SKIC2 SKIC3 SLC35A1 TUBA8 TUBB1 WAS HP_ABNORMAL_PLEURA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLEURA_MORPHOLOGY ABL1 ACTA1 ACTA2 ACTN4 ADAMTS2 ADAMTS3 AGR2 ALG14 ATP6V1A ATP6V1E1 B3GALT6 BAP1 BCL2 BCL6 BLTP1 BMP2 BRAF BTNL2 C4A CALCRL CARD10 CAV1 CBL CCBE1 CCND1 CCR1 CD28 CD46 CEACAM3 CEACAM6 CFH CFI CFTR CHST14 CLCA4 CLPB COL3A1 CTLA4 CTRC CYBB CYBC1 DCTN4 DDR2 DEF6 DICER1 DNASE1 DNASE1L3 DSE DZIP1L EDNRA EFEMP2 EIF2AK4 ELN ELP1 ENG EPHB4 ERAP1 EXT1 EXT2 FAS FAT4 FBLN5 FBN1 FCGR2A FCGR2B FLCN FOXC2 FOXE3 FOXF1 FSHR GAA GCLC GPKOW GPR35 GSTM3 GUSB HELLPAR HEY2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HRAS IFIH1 IFNGR1 IKZF1 IL10 IL12A IL12A-AS1 IL23R IL6 IPO8 IRAK1 IRF4 ITK KCNN4 KEAP1 KIF11 KLRC4 LACC1 LAMA3 LAMB3 LAMC2 LOX LTBP1 LYST LZTR1 MAP2K1 MAT2A MDFIC MEFV MFAP5 MIF MST1 MTO1 MYD88 MYH11 MYLK NAB2 NOD2 NR1H4 P4HA2 PIEZO1 PKHD1 PLVAP PRG4 PRKAG2 PRKG1 PRSS1 PRSS2 PRTN3 PTPN11 PTPN22 RASA1 RIT1 SAT1 SCARB2 SCN4A SEMA4D SERPINA1 SERPINF2 SFTPB SFTPC SLC11A1 SLC25A24 SLC26A9 SLC31A1 SLC34A2 SLC6A14 SLC9A3 SMAD2 SMAD3 SMAD4 SOX18 SPINK1 SPP1 STAT4 STAT6 STX1A TAPT1 TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLR4 TNFRSF1A TNFRSF1B TREX1 TSC1 TSC2 TXNDC15 UBAC2 USP18 VPS51 WARS2 ZNFX1 HP_ABNORMAL_PONS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PONS_MORPHOLOGY ADGRG1 AGTPBP1 AHCY AHI1 ALG3 AMPD2 APC2 ARHGEF2 ARL3 ASNS ATXN2 ATXN8OS B3GALNT2 BRF1 CASK CCDC88C CDON CEP290 CLCN3 CLTC CSPP1 DAG1 DCC DISP1 DLL1 DOCK7 DPM1 EPG5 EXOSC1 EXOSC3 EXOSC8 EXOSC9 FA2H FGF8 FKRP FLI1 FOXH1 GALC GAS1 GLI2 GMPPB GPHN IDH1 INPP5E KIAA0586 LAMA1 LAMA2 LARGE1 MAB21L1 MACF1 MARS2 MDH1 MED23 MINPP1 NODAL NPHP1 PCLO PI4KA PIGA PIGS PLK4 PMM2 POGZ POMGNT1 POMK POMT1 POMT2 PPIL1 PPP2R1A PRDM13 PTCH1 PTEN RELN RERE ROBO1 ROBO3 RORA RTTN SACS SEPSECS SETD2 SETX SHH SIX3 SLC25A46 SLC5A6 SMARCA2 SNX14 STIL STUB1 TBC1D23 TDGF1 TGIF1 TMEM216 TMEM67 TOE1 TRAPPC12 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB2B TUBB3 UBE2A VPS4A VPS51 VRK1 WNT1 ZIC1 ZIC2 HP_ABNORMAL_PORTAL_VENOUS_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PORTAL_VENOUS_SYSTEM_MORPHOLOGY CTNNB1 JAK2 KCNN4 KIF20A MET MPL NOTCH1 PIEZO1 PIGM RECQL4 SERPINC1 SLC4A1 TET2 HP_ABNORMAL_POSTERIOR_EYE_SEGMENT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_EYE_SEGMENT_MORPHOLOGY AAAS AARS1 ABCA4 ABCB6 ABCC6 ABCC8 ABCG5 ABCG8 ABHD12 ACADS ACBD5 ACD ACER3 ACO2 ACOX1 ACTA2 ACTB ACTG1 ACTL6B ACVRL1 ADA2 ADAM22 ADAM9 ADAMTS18 ADAMTSL1 ADAMTSL4 ADAR ADGRV1 AFF4 AFG3L2 AGBL5 AGTPBP1 AGXT AHI1 AHR AIFM1 AIPL1 AIRE AKT1 AKT3 ALDH1A2 ALDH1A3 ALDH3A2 ALDH6A1 ALG12 ALG13 ALG3 ALG6 ALG8 ALMS1 ALPK1 AMACR AMPD2 ANK1 ANKRD11 ANO10 ANTXR1 AP1S2 AP3B1 AP3B2 AP3D1 AP4M1 AP5Z1 APC APOB APOC2 APOE APPL1 ARHGEF18 ARHGEF2 ARL13B ARL2 ARL2BP ARL3 ARL6 ARL6IP6 ARMC9 ARNT2 ARSA ARSG ARSK ARSL ARV1 ARVCF ARX ASAH1 ASB10 ASNS ASPA ASXL1 ATAD3A ATCAY ATF6 ATG7 ATIC ATN1 ATOH7 ATP1A2 ATP1A3 ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATPAF1 ATPAF2 ATRX ATXN1 ATXN2 ATXN7 AUH B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BANK1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL11A BCL7B BCOR BCS1L BEST1 BLK BLM BLOC1S3 BLOC1S5 BLOC1S6 BMP4 BOLA3 BRAF BRAT1 BTD BUD23 C12orf57 C19orf12 C1QTNF5 C2CD3 C4A C4B C9 CA2 CA4 CABP4 CACNA1A CACNA1B CACNA1C CACNA1F CACNA2D1 CACNA2D4 CAPN5 CARS1 CASK CASR CASZ1 CAV1 CBS CC2D2A CCDC103 CCDC22 CCDC28B CCDC39 CCDC40 CCDC65 CCDC88A CCM2 CCND1 CCNO CCNQ CCR1 CDC42 CDC42BPB CDH11 CDH23 CDH3 CDHR1 CDK19 CDK4 CDKN2A CDKN2B CDON CEL CELF2 CENPF CEP120 CEP164 CEP19 CEP290 CEP41 CEP78 CEP83 CEP85L CERKL CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP74 CFH CFHR1 CFHR3 CFI CHD7 CHEK2 CHM CHN1 CHRDL1 CHST14 CHST6 CHSY1 CIB2 CISD2 CKAP2L CLCC1 CLCN2 CLCN3 CLCN7 CLCNKB CLDN11 CLDN19 CLEC3B CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 CNOT3 COA8 COG1 COG6 COL11A1 COL11A2 COL18A1 COL25A1 COL2A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 COMT COQ2 COX15 COX7B COX8A CP CPAMD8 CPLANE1 CPLX1 CPSF3 CR2 CRB1 CREBBP CRLS1 CRPPA CRX CRYAB CSF1R CSPP1 CST3 CTBP1 CTC1 CTLA4 CTNNA1 CTNNA2 CTNNB1 CTNS CTSA CTSD CWC27 CYFIP2 CYP1B1 CYP27A1 CYP4V2 CYP7B1 CYSLTR2 DACT1 DAG1 DALRD3 DARS1 DARS2 DCT DDB2 DDHD2 DDR2 DDX11 DDX59 DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DGUOK DHCR7 DHDDS DHX16 DHX38 DIAPH1 DKC1 DLAT DLK1 DLST DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAL1 DNASE1 DNM1 DNM1L DNM2 DNMT1 DNMT3A DNMT3B DOCK6 DPAGT1 DPM1 DPM2 DPP6 DPYD DPYSL5 DRAM2 DRC1 DSE DST DTNBP1 DUX4 DUX4L1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP EDN3 EDNRB EEF1A2 EFEMP1 EIF2B1 EIF2B2 EIF2B4 EIF4H ELMO2 ELN ELOVL1 ELOVL4 ELP1 ELP4 EMC1 ENG ENPP1 EPAS1 EPCAM EPG5 EPHA2 EPRS1 ERAP1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESPN ESS2 ETHE1 ETS1 EXOC2 EXOC8 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EYS F12 FA2H FAM111A FAM161A FANCB FANCI FAS FBLN1 FBLN5 FBN1 FBN2 FBXO28 FCGR2B FCGR3B FCSK FDFT1 FDX2 FDXR FGF12 FGF13 FGF3 FGFR1 FGFR2 FGFR3 FH FIBP FKBP6 FKRP FKTN FLCN FLII FLNB FLRT1 FLVCR1 FOXA2 FOXC1 FOXE3 FOXJ1 FOXRED1 FRG1 FRMPD4 FSCN2 FUCA1 FXN FZD4 FZR1 G6PC1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GALNT3 GAS2L2 GAS8 GATA2 GATA3 GATAD2B GBA1 GCDH GCK GDF2 GDF3 GDF6 GEMIN4 GFM2 GFPT1 GGCX GJA1 GJC2 GLA GLB1 GLI2 GLRX5 GLYCTK GM2A GMPPA GMPPB GNA11 GNAQ GNAT1 GNAT2 GNB3 GNB5 GNPAT GNPTAB GP1BA GP1BB GPAA1 GPIHBP1 GPR143 GPR161 GPR179 GRHL2 GRIA4 GRID2 GRIN2D GRK1 GRM6 GRN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1A GUCA1B GUCY2D GZF1 HACE1 HADH HADHA HADHB HARS1 HBB HBG1 HBG2 HCCS HCN1 HESX1 HEXA HEXB HGSNAT HHAT HID1 HIKESHI HIRA HK1 HKDC1 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMCN1 HMGB3 HMX1 HNF1A HNF4A HNRNPH1 HNRNPK HNRNPU HPS1 HPS4 HPS5 HPS6 HSD11B2 HSD17B10 HSPD1 HSPG2 HTRA1 HUWE1 HYDIN IBA57 IDH3A IDH3B IDS IDUA IER3IP1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IFT88 IGBP1 IGFBP7 IGHG1 IKBKG IL10 IL11RA IL12A IL12A-AS1 IL12B IL23R IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INS INSR INTS1 INTS8 INVS IPO8 IQCB1 IQSEC2 IRAK1 IRF5 ISCA1 ISCA2 ITGAM ITM2B IVNS1ABP JAG1 JAM3 JAZF1 JMJD1C KANSL1 KAT6A KATNB1 KCNA2 KCNAB2 KCNB1 KCNC3 KCNJ11 KCNJ13 KCNK4 KCNV2 KCTD7 KIAA0319L KIAA0586 KIAA0753 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1B KIF21A KIF3B KIF5A KIF7 KIZ KLC2 KLF1 KLF11 KLHL7 KLRC4 KMT2D KNSTRN KRAS KRIT1 KRT25 KRT71 KRT74 L2HGDH LAMA1 LAMB1 LAMB2 LARGE1 LCA5 LCK LDLR LDLRAP1 LETM1 LHX3 LHX4 LIG3 LIMK1 LIPH LMNA LOXL1 LOXL3 LPAR6 LPL LRAT LRIT3 LRP2 LRP4 LRP5 LRRC32 LRRC56 LTBP2 LUZP1 LYRM7 LYST LZTFL1 MAB21L1 MACF1 MAF MAFB MAG MAGEL2 MAK MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAPKAPK3 MAPKAPK5 MAPRE2 MAX MBTPS2 MC1R MCIDAS MCOLN1 MDH2 MECP2 MECR MED12 MEF2C MEFV MEG3 MERTK METTL27 MFF MFN2 MFRP MFSD8 MGMT MGP MIA3 MICOS13 MICU1 MID2 MINPP1 MIR204 MITF MKKS MKS1 MLX MLXIPL MMACHC MMP14 MMP19 MMP2 MMP23B MMUT MOGS MORC2 MPDU1 MPDZ MPLKIP MRPS34 MSRB3 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTO1 MTOR MTPAP MTRFR MTSS2 MTTP MUTYH MVK MYD88 MYO5A MYO6 MYO7A MYOC NAA10 NADK2 NAGA NALCN NARS2 NBAS NBN NCAPG2 NCF1 NDE1 NDP NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEFL NEK1 NEK10 NEK2 NEK8 NELFA NEU1 NEUROD1 NF1 NF2 NFIX NGLY1 NHS NIPBL NLRP3 NME5 NME8 NMNAT1 NOD2 NOTCH2NLC NOTCH3 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NR3C1 NRCAM NRL NSD2 NSMCE2 NT5C2 NTRK2 NUBPL NUP54 NUP62 NUS1 NYX OAT OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OGDHL OPA1 OPA3 OPN1LW OPN1MW OPN1SW OSTM1 OTUD5 OTX2 OVOL2 P3H2 P4HA2 P4HTM PACS2 PAK2 PANK2 PARS2 PAX2 PAX3 PAX4 PAX6 PCARE PCDH15 PCK1 PCLO PCNA PCSK9 PCYT1A PCYT2 PDCD1 PDCD10 PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFB PDGFRB PDHX PDPN PDSS1 PDX1 PDXK PDZD7 PEPD PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHOX2A PHYH PI4KA PIBF1 PIEZO2 PIGB PIGG PIGL PIGU PIK3CA PIK3CD PISD PITPNM3 PLA2G5 PLA2G6 PLAA PLEKHM1 PLK4 PLOD1 PLP1 PLXNA1 PMM2 PMPCB PNPLA6 POC1B POGZ POLG POLG2 POLR3A POLR3B POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POT1 POU1F1 POU3F4 PPP1CB PPP1R21 PPP2R1A PPP2R3C PPP3CA PPT1 PRCD PRDM16 PRDM5 PRDX1 PRF1 PRICKLE3 PRKAR1A PRKCZ PRMT7 PROC PROKR2 PROM1 PROP1 PRORP PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRSS56 PRTN3 PRUNE1 PSAP PSMD12 PTCD3 PTCH1 PTEN PTF1A PTPN22 PTPN23 PUF60 PUS1 PXK RAB11B RAB18 RAB23 RAB28 RAB3GAP1 RAB3GAP2 RAI1 RAX RAX2 RB1 RBL2 RBM10 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 RECQL4 REEP6 RELN RERE RET RFC1 RFC2 RFX7 RGR RGS9 RGS9BP RHO RHOA RIMS1 RIMS2 RLBP1 RMRP RNASEH1 RNF113A RNF135 RNF170 RNF216 RNU4ATAC RNU7-1 ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPL10 RPS6KA3 RREB1 RRM2B RS1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTL1 RTN4IP1 RTTN RXYLT1 SACS SAG SALL1 SALL2 SALL4 SAR1B SARDH SBDS SBF2 SCAPER SCLT1 SCN3A SCN8A SCYL1 SCYL2 SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SEC23A SEC24C SEC31A SELENOI SEMA3E SEMA4A SERAC1 SERPINC1 SETD2 SF3B1 SH2B1 SH3BP2 SH3TC2 SHH SIL1 SIM1 SIX3 SIX6 SKI SLC12A6 SLC13A5 SLC19A2 SLC1A2 SLC24A1 SLC24A5 SLC25A11 SLC25A15 SLC25A19 SLC25A46 SLC29A3 SLC30A9 SLC35A2 SLC37A4 SLC38A3 SLC38A8 SLC39A14 SLC44A1 SLC45A2 SLC4A2 SLC52A2 SLC6A6 SLC6A9 SLC7A14 SMAD4 SMARCB1 SMARCE1 SMC5 SMCHD1 SMG8 SMO SMOC1 SMPD1 SNAP29 SNRNP200 SNX10 SON SOST SOX10 SOX2 SOX3 SOX5 SP7 SPAG1 SPATA7 SPEF2 SPEN SPG11 SPG7 SPINT2 SPOP SPP1 SPTBN1 SRD5A3 SSBP1 ST3GAL5 STAG2 STAMBP STAT3 STAT4 STK36 STN1 STT3B STUB1 STX1A STX3 SUFU SUMF1 SURF1 SYCE1 SYNE1 SYNGAP1 SYNJ1 SZT2 TACO1 TAF2 TANGO2 TARS1 TASP1 TBC1D20 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBL2 TBX1 TBX22 TCIRG1 TCTN1 TCTN2 TCTN3 TEAD1 TEK TELO2 TENM3 TERC TERF2IP TERT TFAP2A TFG TGFB1 THG1L THSD1 TIMM50 TIMM8A TIMMDC1 TIMP3 TINF2 TK2 TLCD3B TLR4 TLR7 TMCO1 TMEM106B TMEM107 TMEM126A TMEM126B TMEM127 TMEM138 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM270 TMEM53 TMEM63A TMEM67 TMEM98 TMTC3 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF11 TNFSF4 TNIP1 TOE1 TOPORS TOR1A TP53 TPI1 TPP1 TRAF3IP1 TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC9 TREX1 TRIM32 TRIM37 TRIM44 TRIP13 TRIT1 TRNT1 TRPM1 TRPM3 TRRAP TSC1 TSC2 TSEN54 TSFM TSPAN12 TTC12 TTC21B TTC8 TTLL5 TTPA TTR TUB TUBA1A TUBA8 TUBB TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWNK TXN2 TXNDC15 TYR TYRP1 UBA5 UBAC2 UBE2L3 UBE3B UBE4B UCHL1 UFD1 UGP2 UNC119 UQCRFS1 USH1C USH1G USH2A USP45 USP48 USP8 VCAN VHL VPS11 VPS13B VPS33A VPS35L VPS37D VPS41 VPS4A VPS53 VRK1 VSX1 WAC WARS2 WASHC5 WDPCP WDR11 WDR19 WDR4 WDR45 WDR73 WFS1 WHRN WNT3 WRN WT1 WWOX XPA XPC XRCC4 XYLT1 XYLT2 YAP1 YARS1 YME1L1 YWHAG ZEB1 ZEB2 ZFYVE26 ZIC1 ZMYND10 ZNF408 ZNF423 ZNF469 ZNF513 ZNF592 ZNF668 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_POSTERIOR_PITUITARY_MORPHOGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_PITUITARY_MORPHOGENESIS ADGRG1 AKT1 BAP1 CDON DYRK1A ERF FOXA2 GLI2 GPR161 HESX1 KIAA0753 LHX3 LHX4 MTHFR NF2 OTX2 PDGFB PI4KA PIK3CA POU1F1 PROKR2 PROP1 PUF60 ROBO1 SMARCB1 SMARCE1 SMO SOX3 SRPX2 SUFU TBX3 TERT TRAF7 VANGL2 WDR11 HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING AIRE ARL6 ARSG ATF6 BBS1 CCDC28B CFAP418 CFH CFI CLCC1 CLEC3B CNGA3 CNGB3 CWC27 EFEMP1 GNAT2 GUCA1A GUCY2D HLA-A IDH3A IFT172 KIAA1549 KIF3B KIZ KLHL7 MFSD8 PDE6C PDE6H PMM2 POMGNT1 PROM1 PRPF31 PRPF8 PRPH2 RAX2 RLBP1 RP1L1 RPGR SELENOI SLC24A5 SLC6A6 TIMP3 TLCD3B TRNT1 TTLL5 HP_ABNORMAL_POSTURING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTURING ABCD4 AOPEP EPG5 PANK2 PRNP TIMM8A TOR1A HP_ABNORMAL_PREIMPLANTATION_EMBRYONIC_DEVELOPMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PREIMPLANTATION_EMBRYONIC_DEVELOPMENT BTG4 FBXO43 IQCN REC114 TRIP13 ZFP36L2 HP_ABNORMAL_PREPUTIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PREPUTIUM_MORPHOLOGY APC2 AR BRCA1 BRCA2 BRIP1 CENPT CTCF DKC1 ERCC4 ERMARD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FERMT1 MAD2L2 MAMLD1 NSD1 PALB2 PQBP1 RAD51 RAD51C RFWD3 SETD2 SIN3A SLX4 UBE2T XRCC2 HP_ABNORMAL_PROLACTIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROLACTIN_LEVEL AKT1 BAP1 DBH FOXA2 GCNA GLI2 GLI3 GNAS HESX1 IGSF1 LHX3 LHX4 NF2 OTX2 PDGFB PIK3CA POU1F1 PROP1 RBM28 SMARCB1 SMARCE1 SMO SOX3 SUFU TAF4B TERT TRAF7 TRHR ZMYND15 HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS ATM ATP6AP2 BCL11B BLM CARD9 CASP10 CD4 CIITA DEF6 DIAPH1 DOCK8 EPG5 EXTL3 FAS FASLG HLA-DPB1 IKBKB IL2RG IL7R ITK IVNS1ABP KNSTRN LAT LCK LCP2 LEP LEPR MAGT1 MYC NSMCE3 OTULIN PGM3 PIK3CD PIK3R1 PRKCD RASGRP1 RFX5 RFXANK RFXAP SASH3 SMARCAL1 TOM1 UNC119 WAS HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS BLM CARD9 CASP10 CD3G CD8A EXTL3 FAS FASLG IKBKB IL2RG IL7R NSMCE3 PGM3 PIK3CG PRKCD RASGRP1 SASH3 TCF3 WAS WIPF1 ZAP70 HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL CASP10 FAS FASLG FOXP3 PIK3CG PRKCD RASGRP1 HP_ABNORMAL_PROPORTION_OF_MEMORY_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_MEMORY_T_CELLS BCL10 NCKAP1L PIK3CG SASH3 TCF3 HP_ABNORMAL_PROPORTION_OF_NAIVE_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_NAIVE_T_CELLS BCL11B IL2RG PIK3R1 SASH3 SMARCAL1 SYK HP_ABNORMAL_PROSODY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROSODY ADAMTSL2 AR ARID1B BLM BRD4 BSCL2 CHRNB1 CTNND2 CWF19L1 DNAJC13 EED EIF4G1 ERCC4 EZH2 FAM111A FBXO7 FMR1 FOXP2 GBA1 GHR GIGYF2 GRB10 GRIN2A HDAC8 HSPG2 IGF1R ITPA LMNA LRRK2 MAPT MDM2 MED12 MFN2 MORC2 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTX2 MYH7 NBAS NIPBL NSD1 ORC4 P4HB PCNT POC1A POLD1 PPP1R15B RAD21 RBBP8 RIN2 SEC24D SELENON SEMA5A SERPINH1 SMARCAL1 SMC1A SMC3 SNCA SRCAP SRPX2 STAT5B SUZ12 SYT2 TRIM37 TRMT10A TRPS1 TTN VPS35 WRN XRCC4 ZMPSTE24 HP_ABNORMAL_PROSTATE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROSTATE_MORPHOLOGY AAGAB APC AR BARD1 BMPR1A BRCA1 BRCA2 BRIP1 BTK CDH1 CDKN2A CHEK2 COL14A1 CTLA4 EPHB2 FOXE1 GREM1 HGD HLA-DPA1 HLA-DPB1 KLF6 MAD1L1 MDM2 MRE11 MXI1 NAB2 NBN NTHL1 PALB2 PHF6 PRTN3 PTEN PTPN22 RAD50 RAD51 RAD51C RAD51D RNASEL RNF43 STAT6 TP53 ZFHX3 HP_ABNORMAL_PROTEIN_GLYCOSYLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_GLYCOSYLATION ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 CAMLG COG1 COG4 COG5 COG6 COG7 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 EDEM3 GALNT2 GET4 GORAB MAGT1 MAN1B1 MGAT2 MPDU1 MPI PGM1 PGM2L1 PMM2 RFT1 SLC35A2 SLC37A4 SLC39A8 SRD5A3 SSR4 TMEM199 HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION ATP6AP1 COG4 DPM2 DPM3 GALNT2 SLC35A2 SLC37A4 TMEM199 HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND BHLHA9 BMPR1B CDKL5 CHSY1 COL10A1 COL2A1 CREBBP EP300 FANCD2 FGFR3 FIG4 FLNB GDF5 GNAS IHH KIF15 KIF22 LMBR1 MTOR NOG NPR3 RAB23 ROR2 SHH TRIO TRPS1 VAC14 XRCC2 HP_ABNORMAL_PR_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PR_INTERVAL CACNA1S CLCNKB DOHH DSG2 GAA GABRA3 GNB2 GNB5 GPD1L KCNA5 KCNJ18 MT-CYB MTFMT NKX2-5 PRKAG2 SCN2B SCN5A SLC12A3 TLL1 TRPM4 HP_ABNORMAL_PUBIC_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUBIC_BONE_MORPHOLOGY ABCC9 ATP7A BMP1 CAV1 CBFB CCDC8 CCN2 CCR6 COL11A2 COL2A1 CPLX1 CTBP1 CUL7 DYM FGFR2 FIG4 FLNA FRAS1 FREM2 GJB2 GJB6 GRIP1 GSC HLA-DRB1 HNRNPR HSPG2 INPPL1 INTU IRF5 KAT6B KIAA0319L LETM1 MATN3 NELFA NKX3-2 NSD2 OBSL1 PIGG RNU4ATAC RUNX2 SETBP1 SIK3 SMAD4 TBX15 WNT7A HP_ABNORMAL_PULMONARY_ALVEOLAR_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_ALVEOLAR_SYSTEM_MORPHOLOGY FOXF1 GUF1 SFTPC SLC34A2 STRA6 HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY ABCA3 AGR2 AP3B1 AP3D1 ASAH1 ATP11A BACH2 BMP15 BMPR2 BNC1 BTK BTNL2 CASP10 CAV1 CCDC103 CCDC39 CCDC40 CCDC65 CCN2 CCNO CCR6 CFAP221 CFAP298 CFAP300 CFAP74 COL3A1 COPA CSF2RA CSF2RB CTC1 CTLA4 CYBC1 DKC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB4 DNAL1 DOCK2 DPP9 DRC1 DSP EHHADH EIF2AK4 ERF FAM111B FAM13A FARSA FARSB FAS FASLG FOXJ1 FOXP3 FSHR GAS2L2 GAS8 GATM GBA1 HCK HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HPS1 HPS4 HPS6 HYDIN IL1RN IL2RA IL2RB IRF5 ITGA3 KIAA0319L LRRC56 MARS1 MCIDAS MRPS22 MSH4 MUC5B NAF1 NDUFAF6 NEK10 NHLRC2 NHP2 NKX2-1 NME5 NME8 NOP10 NPC2 NR5A1 NSMCE3 NUP107 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PAK2 PARN PIK3CG PLCG2 PLEC POLR3H PRKCD PRTN3 PSMC3IP PTPN22 RAC2 RAG1 RASGRP1 RCBTB1 RNF168 RPA1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SCARB2 SFTPA1 SFTPA2 SFTPB SFTPC SLC34A1 SLC34A2 SMPD1 SP110 SPAG1 SPEF2 SPIDR STAT3 STAT5B STING1 STK36 STN1 STXBP2 TERC TERT THOC2 TINF2 TOM1 TP53 TTC12 UNC119 ZCCHC8 ZMYND10 ZNFX1 ZSWIM7 HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING ABCA3 AGR2 APOE ARVCF ASAH1 ATP11A B2M B3GALT6 BACH2 BCL10 BCL11A BIRC3 BMPR2 BTNL2 C1QB C4A CASP10 CAV1 CCDC103 CCDC39 CCDC40 CCDC65 CCN2 CCNO CCR1 CCR6 CFAP221 CFAP298 CFAP300 CFAP74 COL3A1 COMT CSF2RA CSF2RB CTLA4 CXCR4 CYBB DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DOCK2 DPP9 DRC1 DSP EIF2AK4 ERAP1 FAM13A FAS FASLG FOXJ1 FOXP1 GAS2L2 GAS8 GBA1 GP1BB HBB HBG1 HBG2 HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HYDIN IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL2RA IL6ST IRF5 JMJD1C KIF1B KLF1 KLRC4 LAMA2 LPIN2 LRRC56 LTBP4 MALT1 MCIDAS MEFV MUC5B MYD88 NEK10 NHLRC2 NKX2-1 NME5 NME8 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PARN PAX3 PDGFRA PLEC PRIM1 PRKCD PRTN3 PTPN22 RAB27A RASGRP1 RIPK4 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SEC24C SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC41A1 SMPD1 SPAG1 SPEF2 STAT1 STAT3 STAT4 STK36 STN1 TBX1 TERC TERT TLR4 TP73 TSC1 TSC2 TTC12 UBA1 UBAC2 UFD1 ZMYND10 HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_CUSP_MORPHOLOGY ATRX B3GLCT DAXX TGFBR1 TGFBR2 HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY ARHGAP31 ARVCF ATRX B3GLCT BRAF CBL CLCN7 COMT DACT1 DAXX DDX3X DLL4 DOCK6 DYRK1A EOGT FLT4 FOXF1 GP1BB HIRA IDS JMJD1C KAT5 KIF7 KRAS LZTR1 MRAS NOTCH1 NRAS NXN PIGL POLA1 POLR3A PRKAR1A PTPN11 RAF1 RASA2 RBPJ RIT1 RNF135 ROR2 RRAS RRAS2 RREB1 SALL1 SEC24C SNX10 SOS1 SOS2 SPRED2 TBX1 TCIRG1 TGFBR1 TGFBR2 TMEM70 TNFSF11 UFD1 ZEB2 ZNF699 HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY ABCA3 ACAD8 ADA ADAMTS10 ADAMTS19 ADK AGO2 ANKS6 ARHGAP31 ARPC4 ARSB ATP11A B3GLCT B4GALT7 BAZ1B BCL7B BCOR BMP2 BPTF BRAF BUB1B BUD23 CCDC22 CCDC32 CCNQ CDC42 CHD3 CHD7 CHST3 CIC CIROP CLIP2 COL1A1 COL1A2 COL3A1 CREBBP CUL3 DCHS1 DDX3X DNAJC30 DNAL1 DPP9 DPYSL5 DSG1 DSP EFEMP2 EIF4H ELN ENPP1 EP300 FAM13A FAT4 FBN1 FBXW11 FKBP6 FKTN FLNA FLT4 FOXF1 G6PC3 GATA4 GATA6 GDF1 GNPTAB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HIVEP2 HRAS IGFBP7 INVS KANSL1 KAT6A KCNH1 KDM6A KIF20A KRAS LEMD2 LIMK1 LRP4 LTBP2 LZTR1 MAP2K1 MAP2K2 MAP3K7 METTL27 MGP MLXIPL MRAS MUC5B NCF1 NEK8 NEK9 NF1 NKX2-6 NOTCH1 NOTCH2 NRAS NRXN1 OTUD5 PARN PGAP1 PLD1 PLXND1 POLR3A PPP1CB PRDM5 PSMD12 PTPN11 RAB23 RAD21 RAF1 RFC2 RIT1 RNF135 RPL27 RTEL1 SARDH SFTPA1 SFTPA2 SFTPC SGO1 SHOC2 SKIC3 SLC29A3 SMAD2 SMAD3 SMAD6 SMARCA4 SMC3 SMC5 SOS1 SOS2 SPRED1 SPRED2 STN1 STRA6 STX1A TAB2 TBCK TBL2 TBX2 TERC TERT TMEM270 TRAF7 VPS35L VPS37D WAC WASHC5 WNT4 ZEB2 ZIC3 ZNF341 ZNF469 ZNF699 HP_ABNORMAL_PULSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULSE ABCC6 ENPP1 RASA1 XYLT1 XYLT2 HP_ABNORMAL_PUPILLARY_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_FUNCTION ACTA2 AIMP1 ATF6 ATP1A2 ATP1A3 BAP1 CACNA1A CHRDL1 CHRM3 CHRNA3 CNGA3 CNGB3 COL18A1 COL25A1 COLQ CYSLTR2 DDC DNMBP ERCC6 GALC GNA11 GNAQ GNAT2 GNB2 HHAT KIF1B KIF21A LAMB2 LCA5 LOXL1 LRAT MPZ MYH11 MYL9 NOTCH2NLC ORAI1 OSTM1 PDE6C PDE6H PEX10 PEX7 PHOX2A PHYH PMP22 PRNP PRORP PRPS1 PSAP RAB18 RPE65 RPGR SF3B1 SH3TC2 SIX6 SLC1A3 SPATA7 STIM1 TMEM53 TUBA1A TUBB2B TUBB3 TULP1 ZFHX4 HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX AIMP1 ATF6 CHRM3 CHRNA3 CNGA3 CNGB3 COL18A1 COL25A1 COLQ GALC GNAT2 KIF21A LAMB2 LCA5 LRAT MPZ PDE6C PDE6H PHOX2A PMP22 PRPS1 PSAP RPE65 RPGR SH3TC2 SPATA7 TUBA1A TUBB2B TUBB3 TULP1 HP_ABNORMAL_PUPIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPIL_MORPHOLOGY AAAS ADAMTSL4 AP3D1 ARL6IP6 ATOH7 CHN1 COL18A1 COL25A1 COL3A1 COL4A1 COL8A2 CPAMD8 CPLX1 CTBP1 DDX6 ELP1 FBN1 FGFRL1 FOXC1 FZD4 GFAP GJA1 GMPPA GNA11 GPR143 GRHL2 HRAS KCTD1 KIF21A KRT25 KRT71 KRT74 LAMB2 LETM1 LIPH LOXL1 LPAR6 MAB21L2 MAFB MPZ NDP NSD2 OCRL OVOL2 PAX6 PCYT1A PHOX2A PHOX2B PIK3R1 PITX2 PMP22 POMT2 PTEN RB1 RBP4 RHOA SALL4 SH3TC2 SIN3A STIM1 TBX2 TINF2 TMEM67 TONSL TRPM3 TUBA1A TUBB2B TUBB3 VSX1 WT1 ZEB1 ZEB2 HP_ABNORMAL_PUTAMEN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUTAMEN_MORPHOLOGY FTL GCDH RANBP2 TUBB3 VPS13A HP_ABNORMAL_PYRAMIDAL_SIGN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PYRAMIDAL_SIGN AAAS AARS1 AARS2 ABCB7 ABCD1 ABHD12 ABHD16A ACADS ACOX1 ADAR ADD3 ADGRG1 ADPRS AFG3L2 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALG13 ALS2 AMPD2 ANO10 ANXA11 AP2M1 AP4B1 AP4E1 AP4M1 AP4S1 APOE ARSA ARX ASPA ATG5 ATL1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP6AP2 ATP7A ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B4GALNT1 BCAP31 BCAT2 BICD2 BMPR1A BRAT1 BSCL2 C19orf12 C4A CACNA1A CACNA1G CAMSAP1 CAMTA1 CAPN1 CARS1 CAV1 CCR1 CCT5 CHCHD10 CHD2 CHMP2B CHP1 CLDN11 CLPB CNP CNTNAP1 COA8 COL4A1 COQ2 COQ8A COX20 CPT1C CTC1 CTDP1 CTSF CWF19L1 CYP27A1 CYP2U1 CYP7B1 DARS1 DARS2 DDC DDHD1 DDHD2 DEGS1 DKK1 DLAT DMXL2 DNAJC3 DNAJC6 DNM1L DNMT1 DPM3 DPYS DSTYK DTYMK EARS2 EEF2 EIF2AK2 EIF2S3 ELOVL1 ELOVL4 EPCAM EPRS1 ERAP1 ERCC2 ERCC3 ERCC6 ERLIN1 ERLIN2 ETHE1 FA2H FAN1 FAR1 FARS2 FAS FBXO7 FGF13 FKRP FTL FUCA1 FUS FXN GALC GAN GBA2 GBE1 GCH1 GFAP GFM2 GJB1 GJC2 GLRX5 GM2A GMPPB GPT2 GRIA3 GRID2 GRM1 GTF2E2 GTF2H5 HADHA HADHB HEXB HLA-B HPDL HSPD1 HTRA1 HTT HYCC1 IBA57 IDUA IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IMPDH2 IREB2 IRF2BPL IRF4 JAM2 KARS1 KCNA1 KCNA4 KCNC3 KDM5C KIF1A KIF1C KIF5A KLC2 KLRC4 KMT2B KPNA3 KRAS KY L2HGDH LARGE1 LETM1 LIG3 LMNB1 LSM11 LYRM7 MAG MAN2B1 MAPT MCOLN1 MDH2 MECP2 MECR MEFV MFN2 MLH1 MLH3 MORC2 MPLKIP MPZ MSH2 MSH6 MT-ATP6 MT-TE MTFMT MTPAP MTRFR MTTP MYORG NAGA NALCN NDE1 NDUFA13 NDUFA4 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NEFH NEFL NEXMIF NFASC NIPA1 NKX6-2 NOP56 NR4A2 NT5C2 NUBPL NUP54 NUP62 OPA1 OPA3 PANK2 PARS2 PCYT2 PDGFB PDGFRB PDYN PET117 PEX10 PEX16 PEX7 PGAP1 PHYH PI4KA PIGA PIGT PIK3CA PIK3R5 PLA2G6 PLAA PLP1 PMP2 PMP22 PMS1 PMS2 PNKP PNPLA6 PNPT1 PODXL POLG POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 POU4F1 PPP2R2B PRICKLE1 PRKRA PRNP PRPS1 PRSS12 PSAP PSEN1 PTEN PYCR2 RARS1 REEP1 REEP2 RFC1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF170 RNU7-1 RORA RPS20 RRM2B RTN2 RTTN RUSC2 SACS SAMD9L SAMHD1 SCN1A SCN1B SDHA SDHAF1 SDHB SDHD SELENOI SEMA4A SEPSECS SETX SHMT2 SIGMAR1 SLC12A5 SLC16A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A15 SLC25A46 SLC2A1 SLC2A3 SLC33A1 SLC39A14 SLC44A1 SLC6A1 SLC6A3 SLC9A7 SNCA SNORD118 SNX14 SOD1 SOX10 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 STAT4 STUB1 SYNE1 SYNGAP1 SYNJ1 TACO1 TAF2 TANGO2 TARDBP TARS1 TBC1D20 TBC1D24 TBK1 TBP TFG TGFBR2 TGM6 TH THG1L TIMM8A TLR4 TMEM106B TMEM63A TMEM63C TOR1A TPP1 TREM2 TREX1 TRMT5 TSEN15 TSEN2 TSEN34 TSEN54 TSPOAP1 TTBK2 TTC19 TTPA TTR TWNK TYROBP UBAC2 UBAP1 UBTF UCHL1 UFC1 UGDH VAMP1 VAPB VCP VPS13C VPS13D VPS41 VWA3B WASHC5 WWOX ZFR ZFYVE26 ZFYVE27 HP_ABNORMAL_P_WAVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_P_WAVE EMD GJA5 NPPA SCN3B SCN5A TLL1 HP_ABNORMAL_QRS_COMPLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QRS_COMPLEX CACNA1D GJA5 GNB2 IRX5 JUP LAMP2 PKP2 PRKAG2 SVIL TMEM43 HP_ABNORMAL_QT_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QT_INTERVAL ACADVL AKAP9 ALG10B ALPK3 ANK2 BPTF CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CAV3 CAVIN1 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLCNKB DNAJC19 DPAGT1 FLNC GABRA3 GMPPB GNAS GNB2 GPC3 GPC4 HADH HCN4 KCNA5 KCND3 KCNE1 KCNE2 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNQ1 MECP2 MEN1 NOS1AP PHOX2B PSMD12 RYR1 SCN10A SCN4B SCN5A SLC12A3 SLC4A3 SLC6A8 SNTA1 SRY STX16 SVIL TANGO2 TBX5 TECRL TNNI3K TNNT2 TRDN TRPM4 HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT DUOX2 DUOXA2 HESX1 IYD LHX3 LHX4 POU1F1 PROP1 SLC5A5 TG TPO TRHR TSHB TSHR HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP COQ2 CTSH DNMT1 HCRT HLA-DQB1 HLA-DRB1 MAGEL2 MEN1 MOG P2RY11 RFC1 SIM1 TNFSF4 YY1 ZNF365 HP_ABNORMAL_RECTUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RECTUM_MORPHOLOGY AKT1 APC AXIN2 BAZ1B BCL7B BCOR BMPR1A BUD23 CCBE1 CCNQ CDK8 CDKN2A CEACAM3 CEACAM6 CFTR CHEK2 CLCA4 CLIP2 COL1A1 COL5A1 COL5A2 COX7B CYBA CYBB DACT1 DCTN4 DDB1 DICER1 DNAJC30 DOCK2 EDNRA EIF4H ELN ENG EPCAM FAN1 FCGR2A FKBP6 FREM1 FREM2 GCLC GREM1 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HCCS HFE HMOX1 IGHM IL10RB INSR ITGB2 JAK3 KCNN4 KEAP1 KIF7 KIT KLLN KRAS LIG4 LIMK1 LMNA LONP1 LTBP4 MDM2 METTL27 MID1 MIF MKKS MLH1 MLH3 MLXIPL MNX1 MSH2 MSH3 MSH6 MUTYH MYH11 NAA10 NCF1 NCF2 NDUFB11 NSUN2 NTHL1 OTUD5 PDE11A PDGFRA PI4KA PIGN PIGV PIK3CA PMS1 PMS2 POLD1 POLE POLR1B POLR1C POLR1D PRKAR1A PRMT7 PTEN RAC2 RAD51C RECQL4 RFC2 RNF43 RNU12 RPS20 RPS6KA3 SALL1 SALL4 SDHA SDHB SDHC SDHD SEC23B SEMA4A SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SMAD4 SPINT2 STK11 STX1A TBL2 TCOF1 TCTN3 TGFB1 TGFBR2 TMEM270 TP53 TTC7A UBR1 USF3 VANGL1 VPS37D HP_ABNORMAL_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REFLEX AAAS AARS1 AARS2 AASS ABAT ABCA1 ABCA4 ABCB7 ABCC8 ABCC9 ABCD1 ABHD12 ABHD16A ABHD5 ACADM ACAT1 ACD ACER3 ACO2 ACOX1 ACSL4 ACTA1 ACTL6B ADAR ADCY5 ADCY6 ADGRG1 ADPRS ADSL ADSS1 AFG3L2 AGBL5 AGRN AGTPBP1 AHI1 AHR AIFM1 AIMP2 AK9 ALDH18A1 ALDH4A1 ALDH5A1 ALG1 ALG11 ALG14 ALG2 ALG3 ALG6 ALG9 ALS2 AMACR AMFR AMPD1 AMPD2 AMT ANKLE2 ANO10 ANXA11 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APOB APOE APTX AR ARHGEF18 ARHGEF2 ARL2BP ARL3 ARL6 ARL6IP1 ARSA ARSI ARV1 ARX ASAH1 ASCC1 ASNS ASPA ASPM ATAD1 ATG5 ATL1 ATL3 ATM ATN1 ATP11A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP2B3 ATP5MC3 ATP5MK ATP6AP2 ATP6V1A ATP6V1B2 ATP7A ATP8A2 ATP9A ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AUTS2 B3GALNT2 B4GALNT1 B4GAT1 BAG3 BAZ1B BBS1 BBS2 BCAS3 BCAT2 BCL7B BCS1L BEAN1 BEST1 BICD2 BIN1 BRAT1 BRCA1 BRCA2 BRIP1 BSCL2 BSND BUD23 C19orf12 C4A CA4 CA8 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1S CACNA2D1 CADM3 CAMLG CAMSAP1 CAMTA1 CAPN1 CARS1 CARS2 CASK CAV1 CAV3 CC2D2A CCDC47 CCDC88A CCDC88C CCR1 CCT5 CD40LG CD59 CDC40 CDHR1 CDK19 CDK5 CDK5RAP2 CDK6 CELF2 CENPE CENPJ CEP135 CEP152 CEP63 CERKL CFAP418 CFL2 CHAT CHCHD10 CHCHD2 CHKA CHMP1A CHMP2B CHP1 CHRNA1 CHRNB1 CHRND CHRNE CIT CLCNKA CLCNKB CLDN11 CLIP2 CLN5 CLP1 CLPB CLRN1 CLTC CLTRN CNBP CNGA1 CNGB1 CNKSR2 CNP CNTN1 CNTNAP1 CNTNAP2 COA7 COASY COG4 COG5 COG7 COL12A1 COL13A1 COL25A1 COL4A1 COLQ COPB2 COQ2 COQ5 COQ8A COQ9 COX10 COX11 COX20 COX4I1 COX5A COX6A1 COX8A CPT1A CPT1C CRAT CRB1 CREBBP CRPPA CRX CRYAB CSF1R CTDP1 CTNNA2 CTSF CWF19L1 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DAG1 DALRD3 DARS1 DARS2 DBH DCAF8 DCC DCTN1 DDB2 DDC DDHD1 DDHD2 DEAF1 DEGS1 DENND5A DES DGUOK DHDDS DHH DHTKD1 DHX16 DHX30 DHX38 DKC1 DKK1 DLAT DMD DNAJB2 DNAJC3 DNAJC30 DNAJC6 DNASE1L3 DNM1 DNM1L DNM2 DNMT1 DOCK3 DOK7 DPAGT1 DPM1 DPM2 DPM3 DPYD DST DSTYK DTYMK DUOX2 DUOXA2 DYM DYNC1H1 DYNC1I2 DYSF EARS2 EEF1A2 EEF2 EGR2 EIF2AK2 EIF2S3 EIF4H ELN ELOVL1 ELOVL4 ELP1 ELP2 EMC1 EMD EMILIN1 ENTPD1 EP300 ERAP1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ETHE1 EXOC8 EXOSC1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EYA1 EYS FA2H FAM111B FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAS FASTKD2 FBLN5 FBN1 FBXO28 FBXO38 FBXO7 FDX2 FGD4 FGF12 FGF13 FHL1 FIG4 FKBP10 FKBP6 FKRP FKTN FLI1 FLII FLNC FLRT1 FLVCR1 FMR1 FRMPD4 FSCN2 FTL FUCA1 FUS FUZ FXN FXR1 FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GAD1 GALC GAMT GAN GARS1 GBA1 GBA2 GBE1 GBF1 GCH1 GCLC GDAP1 GDAP2 GEMIN4 GEMIN5 GFAP GFER GFM1 GFM2 GFPT1 GGT1 GIPC1 GJA1 GJB1 GJC2 GLB1 GLDC GLE1 GLRA1 GLRB GLRX5 GLUL GLYCTK GM2A GMPPA GMPPB GNAQ GNAS GNB1 GNB2 GNB4 GNE GNPTAB GNS GOLGA2 GOSR2 GPAA1 GPHN GPT2 GRIA3 GRID2 GRIN1 GRIN2A GRIN2D GRM1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B H4C5 HACD1 HADHA HADHB HARS1 HCN1 HDAC4 HECTD4 HESX1 HEXB HGSNAT HIBCH HIKESHI HINT1 HK1 HLA-B HMGCL HNRNPDL HNRNPK HPDL HPRT1 HRAS HSD17B4 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HTRA1 HTRA2 HTT HUWE1 HYCC1 IARS2 IBA57 IDH3A IDH3B IER3IP1 IFNGR1 IFRD1 IFT140 IFT172 IFT88 IGHMBP2 IL10 IL12A IL12A-AS1 IL23R IL6ST IMPDH1 IMPDH2 IMPG1 IMPG2 INF2 INPP5E INPP5K IQSEC2 IREB2 IRF2BPL ISCA1 ISCA2 ISCU ITGA7 ITPR1 ITPR3 IYD JAG1 JAM2 JAM3 JPH1 JPH3 KARS1 KATNB1 KBTBD13 KCNA1 KCNA2 KCNA4 KCNB1 KCNC3 KCND3 KCNJ18 KCNJ6 KCNK4 KCNK9 KCNMA1 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KIAA0586 KIAA1549 KIDINS220 KIF14 KIF1A KIF1B KIF1C KIF5A KIZ KLC2 KLHL41 KLHL7 KLHL9 KLRC4 KNL1 KPNA3 KRAS KY L1CAM LAMA2 LAMB2 LARGE1 LBR LDB3 LETM1 LGI3 LGI4 LHX3 LHX4 LIFR LIMK1 LITAF LMNA LMNB1 LMOD3 LPIN1 LRAT LRP12 LRP4 LRRK1 LRRK2 LRSAM1 LYRM4 LYRM7 LYST MAB21L1 MAD2L2 MAG MAGEL2 MAK MAN2B1 MAP3K20 MAPT MARS1 MARS2 MAT1A MATR3 MBOAT7 MCCC1 MCCC2 MCM3AP MCM7 MCOLN1 MCPH1 MDH2 MECP2 MECR MED17 MED25 MEFV MEGF10 MERTK METTL27 METTL5 MFF MFN2 MFSD2A MGME1 MICOS13 MICU1 MINPP1 MKS1 MLXIPL MMAA MME MORC2 MPLKIP MPV17 MPZ MRE11 MRPS25 MRPS34 MSL3 MSTN MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TL2 MT-TN MT-TS1 MT-TT MT-TV MT-TW MTM1 MTMR14 MTPAP MTRFR MTTP MUSK MYF6 MYH14 MYH7 MYL1 MYL2 MYO1H MYO9A MYORG MYOT MYPN NAA10 NAA20 NADK2 NAGA NAGLU NALCN NARS1 NARS2 NCAPD3 NCF1 NDE1 NDP NDRG1 NDUFA1 NDUFA4 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFS8 NEB NECAP1 NEFH NEFL NEK1 NEK2 NEU1 NFASC NFIX NGLY1 NIPA1 NKX6-2 NONO NOP56 NOTCH2NLC NR2E3 NR4A2 NRAS NRCAM NRL NSD1 NSRP1 NSUN2 NT5C2 NTRK2 NUBPL NUP214 NUP37 NUP54 NUP62 NUS1 OBSCN OCA2 OCLN OCRL OFD1 OPA1 OPA3 ORAI1 OSTM1 PACS2 PAH PAK3 PALB2 PANK2 PARK7 PARN PARS2 PAX1 PAX7 PC PCARE PCDH12 PCLO PCYT2 PDE6A PDE6B PDE6G PDE8B PDGFB PDGFRB PDHB PDK3 PDSS1 PDXK PDYN PET100 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM3 PHC1 PHYH PI4KA PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGP PIGT PIGV PIGW PIGY PIK3R5 PINK1 PITRM1 PITX3 PKDCC PLA2G6 PLAA PLCB1 PLEC PLEKHG4 PLEKHG5 PLOD1 PLP1 PLXNA1 PMM2 PMP2 PMP22 PMPCA PNKP PNPLA2 PNPLA6 PNPT1 PODXL POLG POLG2 POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 POU3F4 POU4F1 PPIL1 PPOX PPP1R15B PPP1R21 PPP2R2B PPP2R5D PPP3CA PQBP1 PRCD PRDM12 PRDM13 PRDM8 PRICKLE1 PRKCG PRKN PRKRA PRNP PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRUNE1 PRX PSAP PSAT1 PSEN1 PSMB8 PSMC1 PTF1A PTRH2 PTS PUS3 PYCR2 PYROXD1 QARS1 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAB7A RAD51 RAD51C RAI1 RAPSN RARS1 RARS2 RBP3 RDH12 REEP1 REEP2 REEP6 REPS1 RETREG1 RFC1 RFC2 RFT1 RFWD3 RFX7 RGR RHO RILPL1 RLBP1 RLIM RMND1 RMRP RNASEH1 RNASEH2C RNF113A RNF170 RNF2 RNF220 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RRM2B RTEL1 RTN2 RUBCN RUSC2 RXYLT1 RYR1 SACS SAG SAMD9L SAR1B SARS1 SASS6 SBF1 SBF2 SCAPER SCN1A SCN3A SCN4A SCN8A SCN9A SCO2 SCYL1 SCYL2 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SELENON SEMA4A SEMA6B SEPSECS SEPTIN9 SET SETX SH3TC2 SHANK3 SHMT2 SIGMAR1 SIK1 SIL1 SIM1 SLC12A2 SLC12A6 SLC13A5 SLC16A2 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A1 SLC25A12 SLC25A15 SLC25A19 SLC25A21 SLC25A22 SLC25A4 SLC25A46 SLC29A3 SLC2A1 SLC2A3 SLC31A1 SLC33A1 SLC35A1 SLC35C1 SLC38A3 SLC39A14 SLC39A8 SLC44A1 SLC46A1 SLC52A2 SLC52A3 SLC5A5 SLC5A6 SLC5A7 SLC6A19 SLC6A5 SLC6A9 SLC7A14 SLC9A1 SLC9A7 SLX4 SMC5 SMG9 SMN1 SMN2 SMPD1 SNAP25 SNAP29 SNCA SNIP1 SNRNP200 SNRPN SNX14 SOD1 SOX10 SPART SPAST SPATA7 SPEG SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRPX2 ST3GAL3 ST3GAL5 STAC3 STAT4 STIL STIM1 STUB1 STX16 STX1A SUCLA2 SUCLG1 SUMF1 SURF1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TAF13 TAF2 TANGO2 TAOK1 TARDBP TARS1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCK TBK1 TBL2 TBX4 TCAP TCEAL1 TCTN2 TDP1 TECPR2 TERT TFG TG TGM6 TH TICAM1 TIMM50 TIMM8A TINF2 TK2 TLR3 TLR4 TMCO1 TMEM106B TMEM240 TMEM270 TMEM43 TMEM63A TMEM63C TMEM67 TMX2 TNNT1 TNR TOE1 TOPORS TOR1A TPI1 TPM2 TPM3 TPO TPP1 TRAF3 TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC6B TREM2 TREX1 TRIM2 TRIM32 TRIM37 TRIM8 TRIO TRIP4 TRMT10A TRMT5 TRMU TRPV4 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSHB TSHR TSPOAP1 TSPYL1 TTBK2 TTC19 TTC8 TTN TTPA TTR TUB TUBA8 TUBB2B TUBB3 TUBGCP2 TULP1 TWNK TYMP TYROBP UBA1 UBA5 UBAC2 UBAP1 UBE2T UBE3A UCHL1 UFC1 UGDH UGP2 UNC93B1 UQCRQ UROC1 USH2A USP8 VAC14 VAMP1 VANGL1 VAPB VCP VLDLR VPS11 VPS13A VPS13C VPS13D VPS33A VPS37A VPS37D VRK1 VWA1 VWA3B WARS1 WARS2 WASHC5 WDR4 WDR45 WDR62 WDR73 WDR81 WLS WNK1 WWOX XK XPA XPC XRCC1 XRCC2 YARS1 YWHAG ZC4H2 ZEB2 ZFR ZFYVE26 ZFYVE27 ZNF142 ZNF408 ZNF513 ZNHIT3 ZSWIM6 HP_ABNORMAL_RELATIONSHIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RELATIONSHIP AP2M1 CHD2 MECP2 NEXMIF NLGN3 NLGN4X SCN1A SLC2A1 SLC6A1 SYNGAP1 HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY COL18A1 DHCR7 EYA1 FANCA FANCC FANCD2 FANCE IARS1 JAG1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MAPK1 OTUD5 PIGA PIGL PIGN PIGY POGZ PSMC1 RTTN SHOC2 SIX1 SUCLG1 TELO2 TNXB TP63 HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY ACSL4 ACTN4 ADA ALMS1 AMMECR1 ANKFY1 ANLN APOE APOL1 ARHGAP24 ARHGDIA AVIL BANK1 BLK BSND C1QA C3 C4A C4B CASP10 CCR1 CD151 CD2AP CD81 CEP83 CFH CFHR5 CFI CLCN5 CLCNKB COL4A3 COL4A4 COL4A5 COL7A1 COPA COQ2 COQ6 COQ8B CR2 CRB2 CTLA4 DAAM2 DGKE DLST DNASE1 DNASE1L3 DNASE2 DNMT3A ELP1 EMP2 EPAS1 ERAP1 ETS1 FAH FAS FASLG FCGR2A FCGR2B FCGR3B FH FN1 FOXC2 FOXP3 G6PC1 GAPVD1 GATA3 GLA GON7 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNF1B IFNGR1 IGHG1 IL10 IL12A IL12A-AS1 IL23R INF2 IRAK1 IRF5 ITGA3 ITGAM ITGB4 JAG1 JAK1 JAZF1 KANK2 KCNE5 KCNJ1 KIAA0319L KIF1B KIRREL1 KLRC4 LAGE3 LAMA5 LAMB2 LMNA LMNB2 LMX1B LPIN2 MAGI2 MAX MDH2 MECP2 MEFV MMACHC MME MMP1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTRR MTX2 MUC1 MYO1E MYOCD NAA10 NARS2 NF1 NOS1AP NPHP3 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OSGEP PAX2 PDCD1 PGM3 PLCE1 PLEC PRKCD PRTN3 PTPN22 PTPRO PXK RASGRP1 REN RET RNU7-1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC61A1 SGPL1 SLC12A1 SLC12A3 SLC25A11 SLC37A4 SLC41A1 SLC7A7 SMARCAL1 SOCS1 SOX18 SPP1 SPRY2 STAT4 TBC1D8B TLR4 TLR7 TMEM127 TNFAIP3 TNFSF4 TNIP1 TP53RK TPRKB TREX1 TRIM8 TRPC6 UBAC2 UBE2L3 VHL VPS33A WAS WDR19 WDR4 WDR73 WIPF1 WT1 YRDC ZAP70 ZNFX1 HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY ACSL4 ACTN4 ADA ALMS1 AMMECR1 ANKFY1 ANLN APOE APOL1 ARHGAP24 ARHGDIA AVIL BANK1 BLK BSND C1QA C3 C4A C4B CASP10 CCR1 CD151 CD2AP CD81 CD96 CDKN1C CEP290 CEP83 CFH CFHR5 CFI CLCN5 CLCN7 CLCNKB COL4A3 COL4A4 COL4A5 COL7A1 COPA COQ2 COQ6 COQ7 COQ8B CR2 CRB2 CSPP1 CTLA4 DAAM2 DCDC2 DGKE DHX16 DLST DNASE1 DNASE1L3 DNASE2 DNMT3A DZIP1L ELP1 EMP2 EPAS1 ERAP1 ETFA ETFB ETFDH ETS1 FAH FAS FASLG FCGR2A FCGR2B FCGR3B FH FN1 FOXC2 FOXP3 G6PC1 GAPVD1 GATA3 GLA GON7 H4C3 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNF1B IFNG IFNGR1 IFT140 IGF2 IGHG1 IL10 IL12A IL12A-AS1 IL23R INF2 INVS IRAK1 IRF5 ITGA3 ITGAM ITGB4 JAG1 JAK1 JAZF1 KANK2 KCNE5 KCNJ1 KCNQ1 KCNQ1OT1 KIAA0319L KIAA0586 KIF1B KIRREL1 KLRC4 LAGE3 LAMA5 LAMB2 LMNA LMNB2 LMX1B LPIN2 MAGI2 MAX MDH2 MECP2 MEFV MMACHC MME MMP1 MPDU1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTRR MTX2 MUC1 MYO1E MYOCD NAA10 NARS2 NEK8 NF1 NIPBL NOS1AP NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OSGEP PAX2 PBX1 PDCD1 PDCD6IP PEX1 PEX2 PGM3 PIGQ PKHD1 PLCE1 PLEC PRKCD PRTN3 PTPN22 PTPRO PXK RASGRP1 REN RET RNU7-1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC61A1 SGPL1 SKIC3 SLC12A1 SLC12A3 SLC25A11 SLC37A4 SLC41A1 SLC7A7 SMARCAL1 SOCS1 SOX18 SPP1 SPRY2 STAT4 TBC1D8B TLR4 TLR7 TMEM127 TMEM67 TNFAIP3 TNFSF4 TNIP1 TP53RK TPRKB TREX1 TRIM8 TRPC6 TSC2 TULP3 UBAC2 UBE2L3 USP18 VHL VPS33A VPS33B WAS WDR19 WDR4 WDR73 WIPF1 WT1 XPNPEP3 YRDC ZAP70 ZNF699 ZNFX1 HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION ACTN4 BSND CEP290 CLCN7 COQ7 DCDC2 DHX16 DZIP1L H4C3 IFNG IFT140 INVS NIPBL PAX2 PBX1 PDCD6IP PKHD1 TMEM67 TSC2 TULP3 USP18 VPS33B HP_ABNORMAL_RENAL_ECHOGENICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_ECHOGENICITY ACTN4 BICC1 CC2D2A CILK1 COG6 CRB2 CSPP1 DAAM2 DCDC2 DZIP1L FOCAD IFT43 INVS KIAA0586 KIF14 LAMB2 MYH11 MYOCD NSD2 PBX1 PDCD6IP PIGY PKHD1 REN RNU7-1 ROBO1 SARS2 SLC22A12 SLC30A9 TBX18 TCTN2 TMEM67 TTC26 TULP3 XPNPEP3 HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY ACP5 ALG5 ALMS1 ANTXR1 BAZ1B BCL7B BCS1L BSND BTNL2 BUD23 CEP83 CLCN5 CLCNKB CLIP2 CPT2 CTNS DCDC2 DNAJC30 DPH1 DPH2 EIF4H ELN FAN1 FKBP6 FOXC2 FOXP3 GBE1 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 IFT122 INVS LIMK1 METTL27 MLXIPL MMUT MRPL3 MUC1 NCF1 NDUFAF6 NPHP1 NPHP3 NPHP4 PKHD1 PTPRO PUS3 REN RFC2 RPGRIP1L SLC12A3 SLC30A9 SLC37A4 SLC7A7 STX1A TBL2 TMEM270 TMEM67 TRAF3IP1 TULP3 VPS37D WDR19 HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY ACTN4 AHI1 ANKS6 AP2S1 BSND CEP120 CEP164 CEP290 CEP41 CEP83 CLCN7 COQ7 CRB2 DCDC2 DHX16 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L FAN1 GLIS2 H4C3 IFNG IFT140 IFT172 IFT43 IFT80 INVS IQCB1 JAG1 KIAA0753 LONP1 MAPKBP1 MUC1 NEK8 NIPBL NPHP1 NPHP3 NPHP4 PAX2 PBX1 PDCD6IP PDHA1 PKHD1 RPGRIP1L SDCCAG8 TMEM138 TMEM216 TMEM67 TRAF3IP1 TRIP11 TSC2 TTC21B TULP3 USP18 VPS33B WDR19 XPNPEP3 ZNF423 ZNF699 HP_ABNORMAL_RENAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MORPHOLOGY ABCC6 ABCC8 ABCG5 ABCG8 ACE ACP5 ACSL4 ACTB ACTG1 ACTG2 ACTN4 ACVRL1 ADA ADA2 ADAMTS3 ADAMTSL1 ADAT3 ADCY10 ADGRG2 ADNP AFF3 AFF4 AGPAT2 AGT AGTR1 AGXT AHI1 AIP AIRE AKR1D1 AKT1 AKT3 ALDH18A1 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALPL AMER1 AMMECR1 ANKFY1 ANKLE2 ANKRD17 ANKS6 ANLN ANOS1 ANTXR1 AP2S1 APC APC2 APOB APOE APOL1 APPL1 APRT ARHGAP24 ARHGDIA ARID1A ARID1B ARID2 ARL3 ARL6 ARL6IP6 ARMC5 ARNT2 ARPC4 ARSK ARVCF ARX ASPM ASXL2 ATN1 ATP1A1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATPAF1 ATPAF2 ATRX AVIL B2M B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BANK1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCS1L BICC1 BICRA BLK BMP4 BMPER BNC2 BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BSND BTNL2 BUB1 BUB1B BUB3 BUD23 C1QA C2CD3 C3 C4A C4B CA2 CACNA1D CAMK2A CAMKMT CAPN15 CASK CASP10 CASR CASZ1 CC2D2A CCBE1 CCDC141 CCDC22 CCND1 CCND2 CCNQ CCR1 CD151 CD2AP CD81 CD96 CDC42 CDC42BPB CDC73 CDK5RAP2 CDK6 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEL CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP164 CEP19 CEP290 CEP41 CEP55 CEP57 CEP63 CEP83 CFAP418 CFH CFHR5 CFI CFTR CHD7 CHKA CHN1 CHRM3 CHRNA3 CHST14 CHUK CILK1 CIT CLCA4 CLCN3 CLCN5 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLDN2 CLIP2 CLPB COG1 COG6 COG7 COL18A1 COL4A1 COL4A3 COL4A4 COL4A5 COL7A1 COLEC10 COLEC11 COMT COPA COPB2 COQ2 COQ6 COQ7 COQ8B COX14 CPLANE1 CPT2 CR2 CRB2 CREBBP CRTAP CSPP1 CTH CTLA4 CTNNB1 CTNS CTU2 CWC27 CYP24A1 DAAM2 DACT1 DCC DCDC2 DCHS1 DCTN4 DDB1 DDX59 DDX6 DEAF1 DGKE DHCR24 DHCR7 DHX16 DICER1 DIS3L2 DISP1 DKC1 DLK1 DLL1 DLL4 DLST DMXL2 DNA2 DNAJB11 DNAJC21 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPF2 DPH1 DPH2 DPYSL5 DSE DSTYK DUSP6 DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EBP EDNRA EHMT1 EIF4H ELN ELP1 EMP2 EN1 ENG ENPP1 EP300 EPAS1 ERAP1 ERBB3 ERCC4 ERCC6 ERCC8 ESCO2 ETFA ETFB ETFDH ETS1 EVC EVC2 EXTL3 EYA1 FAH FAM149B1 FAM20A FAM20C FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBLN5 FBN1 FBXW11 FCGR2A FCGR2B FCGR3B FEZF1 FGF10 FGF13 FGF17 FGF20 FGF23 FGF8 FGFR1 FGFR2 FGFR3 FH FIBP FIG4 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLRT3 FN1 FOCAD FOXC2 FOXF1 FOXH1 FOXP3 FRAS1 FREM1 FREM2 FUT8 FUZ G6PC1 G6PC3 GABRD GALNT3 GANAB GAPVD1 GAS1 GATA1 GATA3 GBE1 GCK GCLC GCM2 GDF2 GDF3 GDF6 GEMIN4 GFRA1 GLA GLI1 GLI2 GLI3 GLIS2 GLIS3 GLMN GNA11 GNAO1 GNAS GNB1 GNB2 GNPTAB GON7 GP1BA GP1BB GP9 GPC3 GPC4 GPKOW GRB10 GREB1L GRHPR GRIA3 GRIN1 GRIP1 GRM7 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 H4C3 H4C5 H4C9 HAAO HDAC4 HDAC8 HEATR3 HESX1 HFE HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGA2 HMOX1 HNF1A HNF1B HNF4A HNRNPH1 HNRNPK HNRNPU HOGA1 HOXD13 HPRT1 HPSE2 HRAS HS2ST1 HS6ST1 HSD11B2 HSD17B4 HSPA9 HSPG2 HYLS1 IARS1 IDH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 IGHG1 IL10 IL12A IL12A-AS1 IL17RD IL23R INF2 INPP5E INS INSL3 INSR INTS1 INTU INVS IPO8 IQCB1 IQSEC2 IRAK1 IRF5 ITGA3 ITGA6 ITGA8 ITGAM ITGB4 JAG1 JAK1 JAM3 JAZF1 JMJD1C KANK2 KANSL1 KAT5 KAT6A KAT6B KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ1 KCNJ11 KCNJ2 KCNJ5 KCNN4 KCNQ1 KCNQ1OT1 KCTD1 KDM6A KIAA0319L KIAA0586 KIAA0753 KIF14 KIF1B KIF7 KIRREL1 KL KLF11 KLRC4 KMT2A KMT2D KNL1 KNSTRN KRAS KRT17 KYNU LAGE3 LAMA3 LAMA5 LAMB2 LAMB3 LAMC2 LARGE1 LDLR LDLRAP1 LEMD3 LHX1 LIG1 LIG4 LIMK1 LMBRD1 LMNA LMNB1 LMNB2 LMOD1 LMX1B LONP1 LPIN2 LRIG2 LRP4 LRP5 LTBP4 LUZP1 LZTFL1 MAD2L2 MAFB MAGED2 MAGI2 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPKBP1 MASP1 MAX MBTPS2 MCM5 MCM7 MCPH1 MCTP2 MDH2 MDM2 MECP2 MED11 MED12 MED25 MEFV MEG3 MEN1 MEOX1 METTL27 METTL5 MFSD2A MGME1 MIA3 MID1 MIF MKKS MKS1 MLXIPL MMACHC MME MMP1 MMP23B MMUT MNX1 MOCOS MOCS1 MOCS2 MPDU1 MPI MRPL3 MRPS22 MRPS34 MSH3 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTRR MTX2 MUC1 MYCN MYH11 MYL9 MYLK MYMK MYMX MYO1E MYO5B MYOCD MYOD1 MYRF NAA10 NADSYN1 NARS2 NBN NCAPD3 NCAPG2 NCF1 NDNF NDUFAF3 NDUFAF6 NEK1 NEK8 NEUROD1 NEUROD2 NF1 NFIA NHERF1 NIPBL NLRP3 NOD2 NODAL NOS1AP NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NRAS NRIP1 NSD1 NSD2 NSDHL NSUN2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 NXN OCRL OFD1 OPLAH OSGEP OTUD5 OXGR1 PACS1 PAH PALB2 PAX1 PAX2 PAX4 PAX7 PBX1 PCK1 PCK2 PCSK9 PDCD1 PDCD6IP PDE6D PDHA1 PDPN PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM1 PGM3 PHC1 PHGDH PI4KA PIDD1 PIEZO2 PIGA PIGL PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PKD1 PKD2 PKHD1 PLCD1 PLCE1 PLD1 PLEC PLG PLVAP PLXNA1 PMM2 PNKP PNPLA2 POGZ POLE POLR3A POLRMT POMT1 POMT2 POR PORCN POU3F4 PPFIBP1 PPM1B PPP1R15B PPP2R1A PPP2R3C PPP3CA PQBP1 PRDM16 PREPL PRIM1 PRKACA PRKACB PRKAG2 PRKAR1A PRKCD PRKCSH PRKCZ PRMT7 PROK2 PROKR2 PRPS1 PRTN3 PSMC1 PTCH1 PTEN PTH PTH1R PTPN11 PTPN22 PTPRO PUF60 PUS3 PXK PYCR2 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RARB RASGRP1 RBBP8 RBM10 RBM8A RECQL4 REN RERE RET RFC2 RFWD3 RFX7 RIPK4 RMND1 RNU4ATAC RNU7-1 ROBO1 ROBO2 ROR2 RORA RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAGD RREB1 RSPO2 RTL1 RTTN SAA1 SALL1 SALL4 SARS1 SARS2 SASS6 SBDS SC5D SCAPER SCARB2 SCARF2 SCLT1 SCN1B SCN2A SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC61A1 SEC63 SEMA3A SEMA3E SERPINA1 SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SGPL1 SH2B1 SHANK3 SHH SHOC2 SHPK SI SIK1 SIX1 SIX3 SIX5 SKI SKIC2 SKIC3 SLC11A1 SLC12A1 SLC12A3 SLC1A1 SLC1A2 SLC22A12 SLC25A11 SLC25A22 SLC26A1 SLC26A9 SLC29A3 SLC2A2 SLC2A9 SLC30A9 SLC32A1 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC36A2 SLC37A4 SLC3A1 SLC41A1 SLC4A1 SLC5A1 SLC6A14 SLC6A17 SLC7A7 SLC7A9 SLC9A3 SLX4 SMAD4 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMOC1 SMS SNRPB SOCS1 SON SOS1 SOX10 SOX11 SOX17 SOX18 SOX4 SOX9 SPART SPECC1L SPEN SPINK5 SPINT2 SPOP SPP1 SPRED1 SPRY2 SPRY4 SRCAP SRP54 SRY SSR4 STAG1 STAT1 STAT4 STIL STK11 STRA6 STRADA STS STX1A STX3 SUCLG1 SUFU TACR3 TAF13 TAPT1 TASP1 TBC1D20 TBC1D24 TBC1D7 TBC1D8B TBCK TBL2 TBX1 TBX15 TBX18 TBX22 TBX3 TBXT TCTN1 TCTN2 TCTN3 TDGF1 TELO2 TFAP2A TGFB1 TGIF1 THOC6 TKT TLR4 TLR7 TMCO1 TMEM107 TMEM127 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TNFAIP3 TNFSF4 TNIP1 TNXB TOGARAM1 TOM1 TOPORS TOR1A TP53RK TP63 TPRKB TRAF3IP1 TRAPPC10 TRAPPC14 TREX1 TRIM32 TRIM8 TRIP11 TRIP13 TRNT1 TRPC6 TRPV6 TRRAP TSC1 TSC2 TSR2 TTC21B TTC26 TTC8 TULP3 TXNDC15 TXNL4A UBA2 UBAC2 UBE2A UBE2L3 UBE2T UBE4B UBR1 UFD1 UMOD USP18 USP8 USP9X VAC14 VANGL1 VDR VHL VIPAS39 VPS33A VPS33B VPS35L VPS37D VPS45 WAC WARS1 WAS WASHC5 WBP11 WDPCP WDR11 WDR19 WDR35 WDR4 WDR62 WDR73 WFS1 WIPF1 WLS WNT3 WNT4 WNT5A WNT7B WNT9B WT1 XDH XPNPEP3 XRCC2 XRCC4 YRDC YY1 YY1AP1 ZAP70 ZBTB18 ZEB2 ZIC2 ZIC3 ZMIZ1 ZMYM2 ZNF148 ZNF423 ZNF687 ZNF699 ZNFX1 ZPR1 HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY ACTB ACTG1 ACTG2 ALG9 APC APC2 ARID1B ARL3 ARNT2 ARPC4 ATN1 ATP6V1B2 ATP7A ATRX B3GALT6 B3GLCT B4GAT1 B9D1 BAP1 BBS12 BCOR BNC2 BRAF BRF1 CA2 CAMK2A CASZ1 CCBE1 CCDC22 CCNQ CD81 CDC42 CDC42BPB CDKN1C CENPF CHD7 CHRM3 CHRNA3 CHST14 CLCN3 COG1 COG7 COL18A1 CPT2 CREBBP CRTAP CTLA4 CTNNB1 DDB1 DDX6 DHCR7 DLK1 DPYSL5 DSE DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBP EN1 EP300 ERBB3 ERCC6 ERCC8 EYA1 FAM20C FANCB FGF10 FGF13 FGFR1 FGFR2 FGFR3 FH FLI1 FLNA FOCAD FOXF1 G6PC3 GABRD GATA3 GEMIN4 GLI3 GNB1 GPC3 GPC4 GREB1L GRIA3 HDAC4 HLA-DPA1 HLA-DPB1 HNRNPK HOXD13 HPSE2 HSPG2 HYLS1 IARS1 IFT27 IFT80 IPO8 ITGA6 ITGB4 KANSL1 KAT6A KAT6B KCNAB2 KCTD1 KDM6A KIAA0753 KMT2D KRAS LAMA3 LAMB3 LAMC2 LIG4 LMNB1 LMOD1 LRIG2 LTBP4 LUZP1 MAP2K1 MAP2K2 MAP3K7 MASP1 MBTPS2 MED11 MED12 MED25 MEG3 MIA3 MID1 MKKS MMP23B MYCN MYL9 MYMK MYMX MYOD1 NAA10 NBN NCAPG2 NDUFAF3 NF1 NFIA NRIP1 NSD1 NSDHL NSUN2 NXN OFD1 OTUD5 PAX7 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM1 PI4KA PIEZO2 PIGA PIGL PIGN PIGO PIGV PIGW PIGY PLD1 PLEC POLE POLR3A POR PORCN PPP3CA PRDM16 PRKCZ PRTN3 PTPN22 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD51C RBM10 RBM8A RECQL4 RERE RFX7 RNU4ATAC ROR2 RORA RTL1 SALL4 SCARF2 SEMA3E SETBP1 SETD2 SHANK3 SHH SIX1 SIX5 SKI SLC6A17 SOS1 SOX17 SOX9 SPART SPEN SPINK5 SRCAP STRA6 TAPT1 TASP1 TBC1D20 TBC1D24 TBCK TBX1 TBX15 TBX18 TFAP2A TOGARAM1 TP63 TRRAP TTC26 UBE4B UBR1 USP9X VPS35L WASHC5 WDR35 WFS1 WLS WNT5A XDH YY1 ZBTB18 ZEB2 ZIC3 ZMYM2 HP_ABNORMAL_RENAL_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PHYSIOLOGY ABCA12 ABCC6 ABCC8 ACE ACP5 ACSL4 ACTN4 ACVRL1 ADA ADA2 ADAMTS13 AGGF1 AGT AGTR1 AGXT AHI1 ALDH18A1 ALDH4A1 ALDOA ALDOB ALG1 ALG5 ALG9 ALMS1 ALOX12B ALOXE3 AMMECR1 AMN ANKFY1 ANKS6 ANLN AP1S3 AP2S1 APC2 APOA1 APOE APOL1 APPL1 APRT AQP2 ARHGAP24 ARHGDIA ARL6 ASPRV1 ATP1A1 ATP6V0A4 ATP6V1B1 ATP7B AVIL AVPR2 B2M BANK1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BCS1L BICC1 BLK BNC2 BRCA1 BRCA2 BRD4 BRIP1 BSND BTNL2 BUD23 C1QA C1QBP C3 C4A C4B CA2 CACNA1S CAD CASP10 CASR CAV1 CC2D2A CCN2 CCND1 CCNQ CCR1 CCR6 CD109 CD151 CD2AP CD46 CD81 CDC73 CDK4 CEL CEP120 CEP164 CEP19 CEP290 CEP83 CFAP418 CFB CFH CFHR1 CFHR3 CFHR5 CFI CHD4 CHD7 CHRM3 CHRNA3 CHST14 CISD2 CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLEC7A CLIP2 CLPB CNNM2 COA8 COG1 COG6 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COPA COQ2 COQ6 COQ8B CORIN CPOX CPT1A CPT2 CR2 CRB2 CSPP1 CTLA4 CTNS CUBN CYB561 CYBC1 CYP24A1 CYP4F22 DAAM2 DACT1 DCDC2 DCLRE1C DGKE DHDDS DHX37 DIS3L2 DLST DMP1 DMRT3 DNAJB11 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPH1 DSTYK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EFEMP2 EHHADH EHMT1 EIF2AK3 EIF4H ELN ELP1 EMP2 ENG ENPP1 EPAS1 EPG5 ERAP1 ERCC4 ERCC6 ERCC8 ETFA ETFB ETFDH ETS1 EYA1 F10 F2 F5 F8 FAH FAM20A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FBLN5 FBXL4 FCGR2A FCGR2B FCGR3B FGA FH FIG4 FIP1L1 FKBP6 FLT1 FN1 FOXI1 FOXP3 FOXRED1 FUZ FXYD2 G6PC1 GALNT3 GANAB GAPVD1 GATA3 GATA4 GATM GBA1 GCDH GCK GCM2 GDF2 GLA GLIS2 GNAS GON7 GP1BA GP1BB GP9 GPC3 GPR35 GRHPR GSN GTF2I GTF2IRD1 GTF2IRD2 H19 HBB HDAC8 HELLPAR HGD HIC1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGA2 HMOX1 HNF1A HNF1B HNF4A HNRNPK HOGA1 HOXA13 HPRT1 HPS1 HPSE2 HRAS HSD11B2 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGHG1 IKZF1 IL10 IL12A IL12A-AS1 IL17F IL17RA IL17RC IL23R IL2RG IL36RN IL6 IL7R INF2 INPP5E INS INVS IQCB1 IRAK1 IRF2BP2 IRF5 ITGA2 ITGA2B ITGA3 ITGA6 ITGAM ITGB3 ITGB4 ITPR3 JAG1 JAK1 JAZF1 KANK2 KARS1 KCNE5 KCNJ1 KCNJ10 KCNJ11 KCNJ2 KCNJ5 KCTD1 KIAA0319L KIAA0586 KIAA0753 KIF1B KIRREL1 KL KLF11 KLRC4 KYNU LAGE3 LAMA5 LAMB2 LARS2 LCAT LDHA LHX1 LIG4 LIMK1 LIPN LMAN1 LMNB2 LMX1B LPIN1 LPIN2 LRIG2 LRP2 LTBP1 LYZ LZTFL1 MAD2L2 MAFB MAGED2 MAGI2 MAP3K1 MAPKBP1 MARS1 MAX MCFD2 MDH2 MDM2 MECP2 MED12 MEFV MEN1 METTL27 MKKS MKS1 MLXIPL MMACHC MME MMP1 MMUT MOCOS MPI MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MTRR MUC1 MYCN MYD88 MYH11 MYH9 MYO1E MYO5B MYOCD NABP1 NADK2 NCF1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEUROD1 NEXMIF NF1 NFS1 NIPAL4 NIPBL NLRP3 NOD2 NOS1AP NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NPM1 NR0B1 NR5A1 NSD1 NTRK1 NUBPL NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OCLN OCRL OFD1 OSGEP P4HA2 PAFAH1B1 PALB2 PAX2 PAX4 PAX6 PBX1 PC PDCD1 PDSS2 PDX1 PEX19 PEX7 PFKM PGAM2 PGK1 PGM3 PHEX PHKA2 PHKB PHKG2 PHYH PIGA PKD1 PKD2 PKDCC PKHD1 PLCE1 PLG PLVAP PML PMM2 PNPLA6 POLRMT POU6F2 PPOX PRDX1 PRF1 PRKAR1A PRKCD PRODH PRPS1 PRTN3 PTPN22 PTPRO PUS3 PXK PYGM RAD21 RAD51 RAD51C RAG1 RAG2 RARA RASA1 RASGRP1 REN REST RET RFC2 RFWD3 RMND1 RMRP RNU7-1 ROBO1 RPGRIP1L RRAGD RRM2B RYR1 SAA1 SALL1 SARS2 SAT1 SCAPER SCARB2 SCLT1 SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC61A1 SEMA4D SERPINA1 SERPINF2 SETD2 SGPL1 SH2B1 SHANK3 SHPK SIX1 SIX5 SLC12A1 SLC12A3 SLC17A5 SLC22A12 SLC25A11 SLC25A20 SLC26A1 SLC26A4 SLC2A2 SLC2A9 SLC30A9 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC37A4 SLC3A1 SLC41A1 SLC4A1 SLC4A2 SLC4A4 SLC5A1 SLC5A2 SLC7A7 SLC7A9 SLX4 SMAD4 SMARCAL1 SMC1A SMC3 SNAP29 SOCS1 SON SOX18 SOX9 SPP1 SPRY2 SPTBN1 SRCAP SREBF1 SRY STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STOX1 STS STX11 STX1A STX3 STXBP2 SULT2B1 SURF1 TAOK1 TBC1D8B TBL1XR1 TBL2 TBX1 TBX18 TCF4 TCN2 TGM1 THBD TIMMDC1 TLR4 TLR7 TMEM126B TMEM127 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TNFAIP3 TNFSF4 TNIP1 TOM1 TP53RK TPRKB TRAF3IP1 TRAF3IP2 TREX1 TRIM28 TRIM32 TRIM8 TRIP13 TRMT5 TRPC6 TSC1 TSC2 TTC21B TTC26 TTC8 TTR UBAC2 UBE2L3 UBE2T UMOD UMPS UNC13D UQCC2 VAC14 VAMP7 VANGL1 VHL VIPAS39 VPS33A VPS33B VPS37D WAS WDPCP WDR19 WDR35 WDR4 WDR73 WFS1 WIPF1 WT1 WWOX XDH XPNPEP3 XRCC2 XYLT1 XYLT2 YAP1 YRDC YWHAE YY1AP1 ZAP70 ZBTB16 ZFPM2 ZMPSTE24 ZNF423 ZNF592 ZNF699 ZNFX1 HP_ABNORMAL_RENAL_TUBULAR_EPITHELIAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_EPITHELIAL_MORPHOLOGY CEP83 CLCN5 GLIS2 ITGA3 MUC1 MYO1E NPHP1 NPHP3 NPHP4 NPHS1 NUP107 NUP133 REN RPGRIP1L TMEM67 UMOD VPS33A VPS33B XPNPEP3 HP_ABNORMAL_RENAL_TUBULAR_LUMEN_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_LUMEN_MORPHOLOGY CRB2 DCDC2 SLC41A1 TMEM67 TULP3 HP_ABNORMAL_RENAL_TUBULAR_RESORPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_RESORPTION BCS1L BSND CEP290 CLCNKA CLCNKB CNNM2 COA8 CTNS FAH FAM20A GALNT3 GATM HNF1B HNF4A MT-TN MT-TS1 NPHP1 OCRL PIGA POLRMT RRM2B SLC12A3 SLC4A4 SURF1 HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY ACE ACP5 AGT AGTR1 ALMS1 ANTXR1 BAZ1B BCL7B BCS1L BSND BTNL2 BUD23 CEP83 CLCN5 CLCNKB CLIP2 CPT2 CRB2 CTNS DCDC2 DNAJC30 DPH1 DPH2 EIF4H ELN FAN1 FKBP6 FOXC2 FOXP3 GBE1 GLA GLIS2 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 IFT122 INVS ITGA3 LAMA3 LAMB3 LAMC2 LIMK1 METTL27 MLXIPL MMUT MRPL3 MRPS22 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MUC1 MYO1E NCF1 NDUFAF6 NPHP1 NPHP3 NPHP4 NPHS1 NUP107 NUP133 OCRL PKHD1 PMM2 PTPRO PUS3 REN RFC2 RPGRIP1L SHPK SLC12A3 SLC22A12 SLC2A9 SLC30A9 SLC37A4 SLC41A1 SLC7A7 STX1A TBL2 TMEM270 TMEM67 TRAF3IP1 TULP3 UMOD VPS33A VPS33B VPS37D WDR19 XPNPEP3 HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY ABCG5 ABCG8 ADA2 ALG9 APOB ELN ENPP1 FIG4 GEMIN4 JAG1 LDLR LDLRAP1 MAX MLXIPL NF1 PCSK9 PNPLA2 POU3F4 RET SDHB SDHD STAT1 TMEM127 TOM1 VAC14 VHL WDR19 YY1AP1 HP_ABNORMAL_REPETITIVE_MANNERISMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REPETITIVE_MANNERISMS ADGRL1 ADNP AFF2 AFF3 AGO1 ALKBH8 ANK3 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 ARID2 ARPC4 ASH1L ASXL3 ATG7 ATP9A ATRX AUTS2 BCL11A BCORL1 BICRA BRAF CABP4 CACNA1B CACNA1H CACNA2D1 CAMK2B CAMTA1 CASZ1 CCNK CDK19 CDKL5 CELF2 CEP85L CERT1 CHAMP1 CHD1 CHD3 CHD8 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CLCN3 CNTNAP2 CPLX1 CRB1 CREBBP CRH CSNK2A1 CTBP1 CUX2 DDC DDX6 DEAF1 DEPDC5 DHPS DHX30 DLL1 DNAJC19 DOCK7 DPAGT1 DPF2 DPYSL5 DYRK1A EBF3 EEF1A2 EHMT1 ELP2 EP300 EXT2 EXTL3 FBXO28 FBXW11 FGFRL1 FLCN FLII FMR1 FOXG1 FOXP1 GABBR2 GABRA1 GABRB3 GABRD GABRG2 GJA5 GJA8 GLYCTK GNAI1 GNB2 GRIA2 GRIK2 GRIN1 GRIN2A GRN GUCY2D H4C5 HDAC4 HECW2 HERC2 HNRNPH2 HNRNPK HNRNPR HSPG2 HTT HUWE1 IFNG IQSEC2 JRK KAT5 KAT6A KCNAB2 KCNB1 KCNN2 KCNT1 KIF15 KIF5C KMT2A KMT5B KPTN KYNU LARP7 LETM1 LMNB1 LUZP1 MACF1 MADD MAPK1 MAPT MBD5 MECP2 MEF2C MGAT2 MMP23B NAA10 NAA15 NAA20 NACC1 NAGS NAPB NARS1 NAT8L NDP NEXMIF NLGN3 NLGN4X NMNAT1 NOVA2 NPC2 NR2F1 NSD2 NTNG1 NTNG2 NTRK2 OCA2 OCRL OPHN1 PACS2 PDE2A PDPN PDZD8 PGAP1 PGAP3 PIGF POGZ POLA1 PPP2CA PPP2R5D PRDM16 PRKAR1B PRKCZ PRODH PSEN1 PUF60 PUS7 RAB11B RAB39B RAC1 RAI1 RBL2 RERE RFX7 RHOBTB2 RPE65 RTTN SATB1 SCN1A SH2B1 SHANK3 SHMT2 SIK1 SKI SLC1A4 SLC2A1 SLC6A8 SLC9A6 SMARCA2 SMC1A SNRPN SOX5 SPATA5 SPEN SPTBN1 SQSTM1 SVBP SYNGAP1 SYT1 TANC2 TAOK1 TARDBP TBC1D23 TBCD TBR1 TBX1 TCEAL1 TCF20 TCF4 TFE3 THOC2 TKT TMEM106B TMEM222 TMEM67 TPR TRANK1 TRAPPC6B TRAPPC9 TREM2 TRIM8 TRIO TSC1 TSC2 TTI2 TUBB3 TULP1 UBE3A UBE4B VAMP2 VARS1 VCP VPS13A WDR26 WDR4 YME1L1 ZBTB18 ZBTB20 ZEB2 ZMYM2 ZNF526 ZSWIM6 HP_ABNORMAL_REPRODUCTIVE_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REPRODUCTIVE_SYSTEM_MORPHOLOGY AAGAB AARS1 ABCA4 ABL1 ACTA1 ACTB ACTL9 ADA2 ADAR ADAT3 ADGRG2 ADH5 AFF4 AGBL5 AGPAT2 AHI1 AHR AIP AK7 AKAP3 AKR1C2 AKR1C4 AKT1 AKT2 ALG12 ALG9 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX4 AMH AMHR2 ANK1 ANKRD11 ANOS1 ANTXR2 APC APC2 AR ARCN1 ARHGAP31 ARHGEF18 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARL6IP6 ARMC2 ARNT2 ARVCF ARX ATAD3A ATIC ATM ATP6AP2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRX AURKA AURKC AXIN1 AXIN2 AXL B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BARD1 BAX BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BDNF BEST1 BICRA BLTP1 BMP15 BMP4 BMPR1A BMPR1B BNC1 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRDT BRIP1 BSCL2 BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C14orf39 C2CD3 C2CD6 CA4 CAMK2A CAPN15 CARS1 CASK CASZ1 CATIP CATSPER2 CAV1 CAVIN1 CBX2 CC2D2A CCDC141 CCDC22 CCDC28B CCDC34 CCDC62 CCDC8 CCND1 CCNQ CD96 CDC14A CDC42 CDC42BPB CDC45 CDC6 CDC73 CDCA7 CDH1 CDH11 CDH2 CDHR1 CDKL5 CDKN1B CDKN1C CDKN2A CDON CDT1 CEACAM3 CEACAM6 CENPT CEP112 CEP120 CEP152 CEP19 CEP290 CEP41 CEP57 CERKL CFAP251 CFAP418 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CFTR CHD4 CHD7 CHEK2 CHRM3 CHRNA3 CHRNG CIDEC CILK1 CKAP2L CLCA4 CLDN2 CLEC7A CLIP2 CLMP CLPP CLRN1 CNGA1 CNGB1 COG1 COG5 COL14A1 COL1A1 COL3A1 COL4A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COLEC10 COLEC11 COMT COQ6 CORIN COX7B CPE CPLX1 CRB1 CREBBP CRPPA CRX CSPP1 CT55 CTBP1 CTC1 CTCF CTDP1 CTLA4 CTNNB1 CTU2 CUL4B CUL7 CUX1 CXCR4 CYB5A CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DCHS1 DCLRE1C DCTN4 DCX DDB1 DDB2 DDX3Y DDX6 DHCR24 DHCR7 DHDDS DHH DHODH DHX37 DHX38 DICER1 DIS3L2 DISP1 DKC1 DLC1 DLK1 DLL1 DLL3 DMRT1 DMRT3 DMXL2 DNAH1 DNAH10 DNAH17 DNAH2 DNAH7 DNAH8 DNAJC19 DNAJC30 DNALI1 DNHD1 DPF2 DPM1 DPM2 DPP9 DPY19L2 DPYSL5 DRC1 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1 EBF3 ECE1 ECEL1 EDNRA EED EFNB1 EHMT1 EIF2S3 EIF4H ELN EP300 EPCAM EPG5 EPHB2 ERAL1 ERBB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 ESR1 ESR2 EVC EVC2 EWSR1 EXT2 EYS EZH2 F7 FAM111A FAM161A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBN1 FBXL4 FBXO43 FDFT1 FDXR FERMT1 FEZF1 FGD1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FIGLA FKBP6 FKRP FKTN FLCN FLI1 FLNA FLRT3 FLT1 FMR1 FOCAD FOS FOXA2 FOXC1 FOXE1 FOXF1 FOXH1 FOXL2 FRAS1 FREM1 FREM2 FSCN2 FSHB FSHR FSIP2 FUZ FXR1 FZD2 GABRD GAD1 GAS1 GATA1 GATA2 GATA3 GATA4 GATAD2B GBA2 GCLC GFRA1 GGN GH1 GHR GLI1 GLI2 GLI3 GLYCTK GMNN GMPPB GNA11 GNAO1 GNAS GNB2 GNRH1 GNRHR GP1BB GPC3 GPC4 GPR101 GPR161 GRB10 GREB1L GREM1 GRIA3 GRIN1 GRIP1 GRM7 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H19 H4C11 H4C9 HARS2 HBA1 HBA2 HCCS HDAC8 HEATR3 HEPACAM HERC1 HERC2 HES7 HESX1 HFE HFM1 HGD HGSNAT HHAT HID1 HIRA HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGA2 HMOX1 HNF1A HNF1B HNRNPH1 HNRNPR HOXA13 HOXD13 HS6ST1 HSD17B3 HSD17B4 HSD3B2 HSPG2 HUWE1 HYLS1 HYMAI IDH1 IDH2 IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT81 IFT88 IGF2 IGHG2 IGKC IL10RB IL17F IL17RA IL17RC IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INSR INTU IPO8 IQCN IRF6 ISL1 ITGA8 JAK3 JMJD1C KANSL1 KAT5 KAT6B KATNIP KCNA1 KCNAB2 KCNH1 KCNJ6 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KCNU1 KDM1A KDM3B KDM5B KDM5C KDM6A KEAP1 KIAA0586 KIAA0753 KIAA1549 KIF14 KIF7 KIFBP KISS1 KISS1R KIZ KLF1 KLF6 KLHL10 KLHL15 KLHL40 KLHL41 KLHL7 KLLN KMT2D KRAS KRT5 LAMA5 LARGE1 LARS2 LEP LEPR LETM1 LFNG LHB LHCGR LHX1 LHX4 LIG4 LIMK1 LIPE LMNA LMNB2 LMOD3 LMX1B LONP1 LRAT LRP2 LRPPRC LSM11 LSS LUZP1 LZTFL1 LZTR1 MAB21L1 MAB21L2 MAD1L1 MAD2L2 MADD MAGEL2 MAK MAMLD1 MAP2K1 MAP3K1 MAP3K7 MAPRE2 MBD4 MBD5 MBTPS2 MC2R MCC MCM8 MCTP2 MDM2 MECP2 MED12 MED12L MED25 MEG3 MEGF8 MEIOB MERTK MESP2 METTL23 METTL27 MID1 MIF MINPP1 MKKS MKRN3 MKS1 MLH1 MLH3 MLXIPL MMP14 MMP2 MMP23B MNX1 MOGS MOV10L1 MPLKIP MRAP MRE11 MRPS22 MSH2 MSH3 MSH4 MSH5 MSH6 MSX1 MT-CYB MTM1 MTOR MXI1 MYC MYH3 MYMK MYMX MYRF NAA10 NAB2 NANOS1 NBN NCF1 NDN NDNF NDP NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NECTIN1 NEK1 NEK2 NELFA NEUROD2 NEXMIF NF2 NHLH2 NHP2 NIN NIPBL NKX2-1 NNT NOBOX NODAL NOP10 NOTCH2 NPAP1 NPHP1 NPM1 NR0B1 NR2E3 NR2F2 NR3C1 NR5A1 NRAS NRL NSD1 NSD2 NSMF NSUN2 NTHL1 NUP107 NXN OBSL1 OCA2 OFD1 OGT OPCML OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PAICS PALB2 PALLD PANX1 PARN PATL2 PAX3 PAX6 PBX1 PCARE PCNT PDE11A PDE4D PDE6A PDE6B PDE6G PDGFRL PDHA2 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHF21A PHF6 PHF8 PHGDH PHKA2 PHKB PHKG2 PI4KA PIEZO2 PIGA PIGG PIGN PIGP PIGQ PIK3CA PIK3R1 PITX2 PLA2G2A PLAG1 PLAGL1 PLG PLIN1 PMFBP1 PMM2 PMS1 PMS2 PNKP PNLDC1 PNPLA6 POC1A POFUT1 POGLUT1 POLA1 POLD1 POLE POLR1B POLR1C POLR1D POLR3A POLR3H POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPARG PPP1R12A PPP2R1A PPP2R3C PQBP1 PRCD PRDM13 PRDM16 PRKACA PRKACB PRKAR1A PRKCZ PRKDC PRKN PRLR PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRX1 PRTN3 PSENEN PSMB8 PSMC1 PSMC3IP PSMD12 PSPH PTCH1 PTDSS1 PTEN PTPN11 PTPN12 PTPN22 PTPRF PTPRJ PTRH2 PUF60 PWAR1 PWRN1 QRICH2 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RABL3 RAC1 RAC3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54B RAF1 RARB RBBP8 RBM8A RBMY1A1 RBP3 RDH12 RECQL4 REEP6 RELA RERE RET RFC2 RFWD3 RFX7 RGR RHO RIPK4 RIPPLY2 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNASEL RNF113A RNF212 RNF43 RNU12 RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL10L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RSPO1 RSPO2 RTEL1 RTL1 RTTN RXYLT1 RYR1 SAG SALL1 SALL4 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCLT1 SCN1B SCN2A SCUBE3 SDCCAG8 SDHB SDHC SDHD SEC23B SEC24C SEMA3A SEMA3E SEMA4A SEPTIN12 SERPINA1 SETBP1 SETD2 SETD5 SF3B4 SGPL1 SHH SHOC1 SIAH1 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SKIC3 SLC11A1 SLC25A10 SLC25A22 SLC25A24 SLC26A9 SLC29A3 SLC31A1 SLC32A1 SLC34A2 SLC35A2 SLC37A4 SLC39A4 SLC6A14 SLC6A17 SLC7A14 SLC9A3 SLX4 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMS SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOX10 SOX11 SOX2 SOX3 SOX4 SOX9 SPAG17 SPATA16 SPATA7 SPECC1L SPEF2 SPEN SPIDR SPINT2 SPRED1 SPRY4 SPTBN1 SRA1 SRC SRCAP SRD5A2 SRY SSR4 SSX1 STAG1 STAG3 STAR STAT6 STK11 STOX1 STRA6 STRC STS STT3A STT3B STX1A STXBP1 SUCLG1 SUFU SUN5 SUZ12 SYCE1 SYCP3 SYNGAP1 TAC3 TACR3 TAF4B TALDO1 TAPT1 TARS1 TBC1D20 TBC1D24 TBCE TBL1XR1 TBL2 TBX1 TBX15 TBX22 TBX3 TBX4 TBX6 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TDRD9 TEKT3 TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TFAP2A TGFB1 TGFBR1 TGFBR2 TGIF1 THOC2 THOC6 TINF2 TLR2 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM63A TMEM67 TMEM70 TMEM94 TNFAIP3 TNXB TOE1 TOGARAM1 TONSL TOPORS TP53 TP63 TRAF3IP2 TRAIP TREX1 TRIM32 TRIM8 TRIP13 TRPM3 TRPV6 TRRAP TSC1 TSC2 TSGA10 TSPY1 TSPYL1 TSR2 TTC21A TTC29 TTC8 TUB TUBB TUBB8 TULP1 TWIST2 TWNK TXNDC15 TXNRD2 TYMS UBA1 UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UFD1 UNG UPB1 USB1 USF3 USH2A USP26 USP7 USP9X USP9Y VAC14 VAMP7 VANGL1 VHL VPS35L VPS37D WASHC5 WDPCP WDR11 WDR19 WDR35 WEE2 WNT10A WNT3 WNT4 WNT5A WNT7A WNT7B WNT9B WRAP53 WRN WT1 WWOX XPA XPC XRCC2 XRCC4 YWHAE ZEB2 ZFHX3 ZFPM2 ZFTA ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND15 ZNF408 ZNF513 ZNF699 ZPBP ZPR1 ZSWIM7 HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY ARMC2 CCDC103 CCDC39 CCDC40 CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF5 DNAH11 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 NME5 NME8 ODAD1 ODAD3 RSPH3 RSPH4A RSPH9 SPAG1 TTC12 ZMYND10 HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP298 CFAP300 CFAP74 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 HYDIN NME8 ODAD1 ODAD2 ODAD3 RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 STK36 TTC12 ZMYND10 HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY AAGAB AARS1 AARS2 AASS ABCA12 ABCA3 ABL1 ACADVL ACE ACP5 ACTA1 ACTA2 ACTC1 ACTN4 ACVR2B ACVRL1 ADA ADA2 ADAMTS19 ADAMTS2 ADAMTS3 ADAMTSL2 ADARB1 ADGRG6 ADNP AFF4 AGA AGGF1 AGR2 AGRN AGT AGTR1 AHDC1 AICDA AK2 AKT1 ALB ALDH18A1 ALDH1A2 ALG12 ALG14 ALG3 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ALX1 ALX3 AMER1 ANG ANKFY1 ANLN ANO3 ANXA11 AP3B1 AP3D1 APC APC2 APOE APOL1 ARHGAP24 ARHGAP31 ARHGDIA ARHGEF1 ARID1A ARID1B ARID2 ARL2BP ARMC2 ARNT2 ARPC1B ARSB ARSL ARVCF ASAH1 ASCC1 ASPRV1 ASXL1 ASXL3 ATM ATP11A ATP5F1A ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX ATXN2 B2M B3GALT6 B3GLCT BACH2 BAP1 BAZ1B BCL10 BCL11A BCL11B BCL2 BCL6 BCL7B BCOR BCR BGN BIRC3 BLM BLNK BLTP1 BMP15 BMP2 BMPER BMPR2 BNC1 BRAF BRCA1 BRCA2 BRF1 BRIP1 BTD BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C1QB C2CD3 C3 C4A C4B CACNA1B CACNA1C CALCRL CAPN15 CARD10 CARD11 CARMIL2 CARS1 CASP10 CASP8 CASR CAT CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCN2 CCND1 CCNF CCNO CCNQ CCR1 CCR6 CD19 CD247 CD27 CD28 CD2AP CD3D CD3E CD3G CD4 CD40LG CD46 CD55 CD79A CD79B CD81 CD8A CDC42 CDC45 CDCA7 CDKN2A CDON CDT1 CEACAM3 CEACAM6 CENPE CEP120 CEP55 CEP57 CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP52 CFAP53 CFAP74 CFB CFH CFI CFTR CHAMP1 CHAT CHCHD10 CHD7 CHEK2 CHMP2B CHRM3 CHRNA1 CHRND CHRNG CHST14 CHUK CIITA CILK1 CIROP CITED2 CLCA4 CLCN7 CLEC7A CLIP2 CLPB CNTN1 COG4 COG6 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL17A1 COL2A1 COL3A1 COL4A3 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COMT COPA COQ7 COQ8B CORO1A CPLX1 CR2 CRB2 CREBBP CRELD1 CRKL CRLF1 CRTAP CSF2RA CSF2RB CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNA2 CTNNB1 CTNNBL1 CTPS1 CTRC CTSC CTSK CUX1 CXCR4 CYBA CYBB CYBC1 CYP27A1 CYP2A6 CYP4F22 DAAM2 DAO DCHS1 DCLRE1C DCTN1 DCTN4 DDR2 DDRGK1 DDX3X DDX59 DEAF1 DEF6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DIAPH1 DICER1 DIP2B DIS3L2 DISP1 DKC1 DLK1 DLL1 DLL3 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB4 DNAJC21 DNAJC30 DNAL1 DNASE1 DNASE1L3 DNMT3B DOCK2 DOCK6 DOCK8 DOK7 DONSON DPAGT1 DPF2 DPM2 DPP9 DPYSL5 DRC1 DSE DSG1 DSP DTYMK DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EBP ECM1 EDA EDARADD EDN1 EDNRA EDNRB EFEMP2 EFL1 EGFR EHHADH EHMT1 EIF2AK4 EIF4A3 EIF4H ELANE ELF4 ELN ELP1 EMC1 EMG1 EMILIN1 EMP2 ENG EOGT EP300 EPG5 EPHA4 EPHB4 EPM2A ERAP1 ERBB2 ERBB4 ERCC2 ERCC3 ERCC4 ERCC6 ERF ESS2 ETFA ETFB ETFDH EVC EVC2 EWSR1 EXOSC9 EXT1 EXT2 EXTL3 F12 F5 FADD FAM111B FAM13A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FARSB FAS FASLG FAT4 FBLN5 FBN1 FBN2 FBXO28 FBXW7 FCGR2A FCGR2B FCGR3A FCGR3B FCHO1 FCN3 FCSK FERMT1 FGF10 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FIP1L1 FKBP6 FLCN FLI1 FLII FLNA FLNB FLNC FLT4 FMO3 FMR1 FNIP1 FOCAD FOXC2 FOXE1 FOXE3 FOXF1 FOXH1 FOXI1 FOXJ1 FOXN1 FOXP1 FOXP2 FOXP3 FRA10AC1 FRAS1 FREM1 FREM2 FSHR FUCA1 FUS FUT8 FUZ G6PC3 GAA GABRG2 GALC GALNS GAPVD1 GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA6 GATM GBA1 GCLC GDF1 GDF2 GEMIN4 GFI1 GFM2 GFRA1 GIMAP5 GIPC1 GJA1 GLA GLB1 GLDN GLE1 GLI1 GLI2 GLI3 GLMN GLT8D1 GLUL GMNN GNPTAB GNS GORAB GP1BB GPC3 GPC4 GPC6 GPKOW GPR35 GREB1L GRHL3 GRIA1 GRIN2A GRIP1 GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 GUSB H19 H3-3A H3-3B H4C3 H4C5 HAAO HACD1 HBB HBG1 HBG2 HCK HDAC4 HELLPAR HELLS HERC2 HES7 HESX1 HEY2 HFE HGSNAT HIRA HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMOX1 HNRNPA1 HNRNPR HOXD13 HPGD HPS1 HPS4 HPS6 HRAS HS3ST6 HSPG2 HYDIN HYLS1 HYOU1 ICOS IDH1 IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IGBP1 IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IKBKG IKZF1 IL10 IL10RB IL12A IL12A-AS1 IL12B IL12RB1 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL6 IL6R IL6ST IL7R INF2 INPPL1 INTU INVS IPO8 IQSEC2 IRAK1 IRAK4 IRF1 IRF2BP2 IRF4 IRF5 IRF8 IRF9 ITCH ITGA3 ITGA7 ITGA8 ITK ITPR1 IVNS1ABP JAG1 JAGN1 JAK3 JMJD1C KANSL1 KAT6A KAT6B KATNIP KCNJ10 KCNJ2 KCNJ6 KCNMA1 KCNN4 KDM5C KDM6A KEAP1 KIAA0319L KIAA0586 KIAA0753 KIF11 KIF1A KIF1B KIF20A KIF21A KIF22 KIF7 KITLG KLF1 KLHL40 KLHL41 KLRC4 KMT2C KMT2D KNSTRN KPTN KRAS KRT14 KRT5 LACC1 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMTOR2 LAT LBR LCK LEP LEPR LETM1 LFNG LGI4 LIFR LIG1 LIG4 LIMK1 LIPN LMBRD1 LMNA LMNB1 LMOD3 LONP1 LOX LPIN2 LRBA LRIF1 LRP12 LRP4 LRPPRC LRRC56 LRRC8A LTBP1 LTBP3 LTBP4 LYST LZTR1 MAD2L2 MAGEL2 MAGI2 MAGT1 MALT1 MAN2B1 MANBA MAP2K1 MAP3K20 MAP3K7 MAP3K8 MAPK1 MARS1 MARS2 MASP2 MAT2A MATR3 MBTPS2 MCIDAS MCM4 MCTP2 MDFIC MDM2 MDM4 MECP2 MED12 MED25 MEFV MEG3 MEGF10 MEIS2 MESP2 METTL27 MFAP5 MGAT2 MGP MID1 MIF MIR140 MITF MKKS MKRN3 MKS1 MLH1 MLX MLXIPL MMP1 MMP21 MOGS MPDU1 MPEG1 MPLKIP MRAS MRPS22 MS4A1 MSH2 MSH4 MSH6 MSN MST1 MST1R MT-CYB MTHFD1 MTM1 MTO1 MUC5B MUSK MYBPC3 MYCN MYD88 MYH11 MYH3 MYH6 MYH7 MYL2 MYL9 MYLK MYMK MYMX MYO1E MYO1H MYO5A MYO9A MYOD1 MYPN MYRF MYSM1 NAA10 NAB2 NABP1 NADK2 NAE1 NAF1 NAGLU NBN NCF1 NCF2 NCF4 NCKAP1L NDN NDUFA6 NDUFAF6 NDUFB10 NDUFC2 NEB NECTIN1 NEFH NEK1 NEK10 NEK8 NEK9 NELFA NEPRO NEU1 NF1 NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NGLY1 NHLRC1 NHLRC2 NHP2 NIN NIPA1 NIPA2 NIPAL4 NIPBL NKX2-1 NKX2-5 NKX2-6 NLRC4 NLRP1 NLRP12 NME5 NME8 NOD2 NODAL NOP10 NOS1 NOTCH1 NOTCH2 NOTCH2NLC NOTCH3 NPAP1 NPC2 NPHP3 NPHS1 NPHS2 NPM1 NR1H4 NR5A1 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE3 NTRK1 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP214 NUP37 NUP85 NUP88 NUP93 NXN OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPTN ORC1 ORC4 ORC6 OSTM1 OTUD5 OTX2 P4HA2 P4HTM PABPN1 PAFAH1B1 PAICS PAK2 PALB2 PANK2 PARN PAX2 PAX3 PAX6 PCGF2 PCNT PDE11A PDGFRA PDGFRB PDHA1 PEPD PERP PET117 PEX1 PEX13 PEX5 PFN1 PGM3 PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGT PIK3CA PIK3CD PIK3CG PIK3R1 PKD1L1 PKDCC PKHD1 PKP1 PLA2G6 PLCE1 PLCG2 PLCH1 PLD1 PLEC PLG PLOD1 PLP1 PLVAP PLXND1 PML PMM2 PNP POLA1 POLE POLG POLR1B POLR1C POLR1D POLR2A POLR3A POLR3H PON1 PON2 PON3 POR PORCN POT1 POU6F2 PPARGC1A PPM1D PPP1CB PPP1R21 PPP2R1B PRG4 PRIM1 PRKACA PRKACB PRKAG2 PRKAR1A PRKCD PRKDC PRKG1 PRKN PRMT7 PROKR2 PRPH PRPS1 PRRX1 PRSS1 PRSS2 PRTN3 PSAP PSMB4 PSMB8 PSMB9 PSMC3IP PTCD3 PTCH1 PTEN PTH1R PTPN11 PTPN22 PTPRO PUF60 PURA PWAR1 PWRN1 PYROXD1 RAB27A RAB3GAP2 RAC1 RAC2 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RALGAPA1 RANBP2 RAPSN RARA RARB RASA1 RASA2 RASGRP1 RB1 RBM10 RBPJ RCBTB1 REEP1 REL RELA RELB REN REST RET RFC2 RFT1 RFWD3 RFX5 RFX7 RFXANK RFXAP RHOH RILPL1 RIN2 RIPK1 RIPK4 RIPPLY2 RIT1 RLIM RMRP RNF113A RNF125 RNF168 RNU4ATAC ROBO1 ROR2 RPA1 RPGR RPL10 RPL5 RPS15A RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO1 RSPO2 RSPRY1 RTEL1 RTL1 RUNX2 RYR1 SALL1 SALL4 SAMD9 SAMD9L SASH3 SAT1 SATB1 SATB2 SBDS SCARB2 SCARF2 SCN10A SCN11A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SCUBE3 SDCCAG8 SDHD SDR9C7 SEC24C SELENON SEMA3E SEMA4D SERPINA1 SERPINF2 SERPING1 SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SFRP4 SFTPA1 SFTPA2 SFTPB SFTPC SGCG SGSH SH2D1A SH3KBP1 SHH SHROOM4 SIAH1 SIK1 SIM1 SIX2 SIX3 SKIC2 SKIC3 SLC11A1 SLC12A2 SLC12A6 SLC18A3 SLC1A4 SLC22A18 SLC25A1 SLC25A22 SLC25A24 SLC26A2 SLC26A4 SLC26A9 SLC29A3 SLC2A10 SLC31A1 SLC34A1 SLC34A2 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC41A1 SLC46A1 SLC52A3 SLC5A7 SLC6A14 SLC7A7 SLC9A3 SLCO2A1 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMCHD1 SMG8 SMN1 SMO SMPD1 SNAI2 SNAP25 SNAP29 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SOCS1 SOD1 SON SOS1 SOS2 SOX10 SOX11 SOX18 SOX2 SOX3 SOX4 SOX9 SP110 SPAG1 SPECC1L SPEF2 SPI1 SPIDR SPINK1 SPINK5 SPP1 SPRED1 SPRED2 SPTBN1 SPTBN4 SQSTM1 SREBF1 SRP19 SRP54 SRPX2 STAG2 STAT1 STAT3 STAT4 STAT5B STAT6 STIL STING1 STK11 STK36 STK4 STN1 STRA6 STX1A STX3 STXBP2 SUCLG1 SULT2B1 SYK SYT1 SYT2 TAF1 TAF15 TAFAZZIN TAOK1 TAP1 TAP2 TAPBP TAPT1 TARDBP TARS1 TASP1 TBC1D23 TBC1D24 TBC1D8B TBCD TBCE TBK1 TBL1XR1 TBL2 TBX1 TBX20 TBX3 TBX5 TBX6 TCEAL1 TCF3 TCF4 TCIRG1 TCOF1 TCTN3 TDGF1 TECPR2 TERC TERT TET2 TFG TFRC TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THOC2 THSD4 TIMM8A TIMMDC1 TINF2 TK2 TLL1 TLR4 TMCO1 TMEM260 TMEM270 TMEM94 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF9 TNFSF11 TNFSF12 TNNI3 TNNT2 TOM1 TONSL TP53 TP63 TP73 TPM2 TPM3 TPP2 TRAC TRAF3IP1 TRAF3IP2 TRAF7 TRAIP TREM2 TREX1 TRIM2 TRIM28 TRIM37 TRIP11 TRIP13 TRIP4 TRPC6 TRPS1 TRPV3 TRPV4 TRRAP TSC1 TSC2 TSPYL1 TTC12 TTC21B TTC26 TTC7A TTR TUBA1A TUBG1 TXNDC15 TYK2 TYMS TYR UBA1 UBA2 UBAC2 UBB UBE2A UBE2T UBE3B UBQLN2 UFC1 UFD1 UGP2 UMPS UNC119 UNC13A UNG UQCRH USB1 USP18 USP26 USP9X VAMP1 VANGL1 VAPB VARS1 VCP VHL VPS13B VPS33A VPS35L VPS37D VPS51 WAC WARS2 WAS WASHC5 WBP11 WDR1 WDR19 WDR26 WDR35 WIPF1 WNT3 WNT4 WNT7A WNT7B WNT9B WRAP53 WRN WT1 XIAP XPNPEP2 XRCC2 YARS1 ZAP70 ZBTB16 ZBTB24 ZBTB7A ZCCHC8 ZEB2 ZFPM2 ZFTA ZIC2 ZIC3 ZMPSTE24 ZMYND10 ZNF341 ZNF668 ZNF699 ZNFX1 ZNHIT3 ZNRF3 ZSWIM7 HP_ABNORMAL_RESPIRATORY_SYSTEM_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_SYSTEM_PHYSIOLOGY AAAS AARS1 ABCA12 ABCA3 ABCB11 ABCB4 ABCC6 ABCC9 ABCD4 ABCG5 ABCG8 ACADM ACADS ACADSB ACADVL ACAN ACAT1 ACE ACOX1 ACP5 ACTA1 ACTA2 ACTC1 ACTN2 ACVR1 ACVRL1 ACY1 ADA ADAM22 ADAMTS13 ADAMTS3 ADCY6 ADGRG1 ADGRG6 ADNP ADPRS AFF3 AFF4 AGGF1 AGK AGO2 AGR2 AGRN AGT AGTPBP1 AGTR1 AHCY AHDC1 AHI1 AIFM1 AIP AK9 AKT1 ALAD ALAS2 ALDH1A2 ALDH7A1 ALG1 ALG12 ALG14 ALG9 ALMS1 ALOX5 ALPL AMER1 AMT ANG ANXA11 AP3D1 APC APOB ARCN1 ARHGAP31 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSB ARSL ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASNS ASXL1 ATAD1 ATL1 ATL3 ATN1 ATP11A ATP13A3 ATP1A2 ATP1A3 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATP8B1 ATPAF1 ATPAF2 ATRX ATXN1 ATXN2 ATXN8OS B3GALT6 B9D1 B9D2 BAG3 BANF1 BAP1 BBS1 BCHE BCL11B BCOR BDNF BICD2 BIN1 BLM BLNK BMP2 BMPER BMPR2 BOLA3 BRAF BRAT1 BSCL2 BTD BTK BTNL2 BUB1 BUB1B BUB3 C2CD3 C4A C4B CA2 CA5A CABP4 CACNA1A CACNA1C CACNA1D CACNA1H CACNA1I CACNA1S CACNA2D1 CAMK2B CANT1 CARD10 CARD11 CARMIL2 CARS1 CASK CASP8 CASR CAV1 CBS CBY1 CC2D2A CCBE1 CCDC103 CCDC174 CCDC28B CCDC39 CCDC40 CCDC47 CCDC65 CCL11 CCN2 CCNF CCNO CCR1 CCR6 CD19 CD40LG CD55 CD79A CD79B CD81 CDC42BPB CDC45 CDC6 CDK13 CDKL5 CDKN1C CDON CDSN CDT1 CEACAM3 CEACAM6 CEP104 CEP120 CEP290 CEP41 CEP57 CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP52 CFAP74 CFL2 CFTR CHAMP1 CHAT CHCHD10 CHD7 CHMP2B CHRNA1 CHRNA2 CHRNA4 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST3 CISD2 CITED2 CIZ1 CLCA4 CLCF1 CLCN6 CLCN7 CLCNKB CLEC7A CLPB CNOT1 CNTN1 CNTNAP1 CNTNAP2 COA6 COA8 COG1 COG7 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COLQ COMT COPA COQ2 COQ4 COQ7 COQ9 COX11 COX14 COX4I2 COX5A COX6A2 COX6B1 COX7B COX8A CPLANE1 CPOX CPS1 CPT2 CR2 CREBBP CRH CRLF1 CRLS1 CRPPA CRYAB CSF2RA CSF2RB CSGALNACT1 CSPP1 CTCF CTLA4 CTNNB1 CTSD CTSK CUL7 CYB5A CYB5R3 CYBA CYBB CYBC1 CYP27A1 D2HGDH DAG1 DAO DAXX DBH DCTN1 DCTN4 DCX DDB1 DDC DDR2 DDRGK1 DDX3X DDX41 DEF6 DEPDC5 DES DHX16 DISC1 DISP1 DKC1 DKK1 DLEC1 DLK1 DLL1 DLL3 DLL4 DMD DMPK DNA2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB4 DNAJB6 DNAJC21 DNAL1 DNASE1L3 DNM1L DNM2 DOCK6 DOCK8 DOK7 DOLK DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM2 DPP9 DPYD DRC1 DSC2 DSG2 DSP DST DTYMK DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYSF DZIP1L ECHS1 EDA EDN1 EDN3 EDNRA EFEMP2 EFTUD2 EGR2 EIF2AK4 ELN ELOVL4 ELP1 EMD ENG ENPP1 EOGT EOMES EP300 EPHA4 EPHB4 EPOR ERAP1 ERBB3 ERBB4 ERCC2 ERCC3 ERF ERGIC1 ETFA ETFB ETFDH EXOC2 EXOSC3 EXOSC8 EXOSC9 EXT2 F12 F13A1 F2 F8 FAM111B FAM13A FAM149B1 FAM20C FARS2 FARSA FARSB FAS FAT4 FBLN5 FBN1 FBP1 FBXO28 FCGR2A FCGR3A FCSK FDX2 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FHL1 FIG4 FIP1L1 FKBP10 FKRP FKTN FLAD1 FLCN FLG FLNA FLNB FLNC FOCAD FOXE1 FOXE3 FOXF1 FOXG1 FOXH1 FOXI1 FOXJ1 FOXP1 FOXP2 FOXP3 FOXRED1 FREM2 FRG1 FUS FXR1 FZR1 G6PC3 GAA GABBR2 GABRA1 GABRA3 GABRB3 GABRG2 GALC GALK1 GALNS GARS1 GAS1 GAS2L2 GAS8 GATA2 GATA4 GATA5 GATA6 GBA1 GCLC GDAP1 GDF2 GDNF GET3 GFPT1 GFRA1 GGPS1 GGT1 GIPC1 GJA5 GLA GLB1 GLE1 GLI2 GLI3 GLRA1 GLS GLT8D1 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNA11 GNAI3 GNAQ GNAS GNB1 GNB2 GNE GNPTAB GOSR2 GP1BA GP1BB GP9 GPC3 GPC4 GPHN GPR101 GPX4 GRB10 GRHL2 GRIK2 GRIN1 GRIN2A GRM7 GSC GSN GSTM3 GTF2E2 GTF2H5 GTPBP3 GUSB GYG1 H4C5 HABP2 HACD1 HADHA HADHB HBB HCCS HCK HDAC4 HEPHL1 HERC2 HES7 HEXA HEY2 HFE HIBCH HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G HLCS HMBS HMGA2 HMGCL HMOX1 HNMT HNRNPA1 HNRNPA2B1 HNRNPK HOXA1 HPDL HPS1 HPS4 HRAS HSD3B2 HSPD1 HSPG2 HTRA2 HYDIN HYLS1 HYMAI IBA57 ICOS IDH1 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IFT52 IFT74 IFT80 IFT81 IGF2 IGHG2 IGHM IGHMBP2 IGKC IGLL1 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL13 IL17F IL17RA IL17RC IL1RN IL21R IL23R IL2RG IL4R IL6ST INPP5E INPP5K INPPL1 INVS IPO8 IRAK1 IRF2BP2 IRF4 IRF5 IRF6 ISCU ITCH ITGA3 ITGA7 JAG1 JAG2 JAK1 JAK2 JMJD1C JPH2 JRK JUP KARS1 KAT6A KAT6B KATNB1 KATNIP KBTBD13 KCNA1 KCNA5 KCNE1 KCNE2 KCNE3 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KCNJ3 KCNJ5 KCNJ6 KCNK3 KCNN4 KCNQ1 KCNQ2 KCNQ3 KCNT1 KIAA0319L KIAA0586 KIAA0753 KIF20A KIF21A KIF22 KIF5A KIF7 KIT KLHL24 KLHL40 KLHL41 KLHL7 KLRC4 KMT2D KNSTRN KRAS KRT16 KRT17 KRT18 KRT6A KRT6B KYNU LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMP2 LARGE1 LARP7 LARS2 LAT LBR LBX1 LDLR LDLRAP1 LFNG LGI4 LIAS LIFR LIG4 LIPT1 LIPT2 LMNA LMOD3 LMX1B LONP1 LOX LPIN2 LRBA LRP12 LRP4 LRP5 LRPPRC LRRC32 LRRC56 LRRC8A LTBP1 LTBP3 LTBP4 LYRM4 LYRM7 MADD MAGEL2 MAMLD1 MAP3K20 MAP3K7 MAPT MARS1 MAT2A MATR3 MB MCCC1 MCCC2 MCIDAS MCM3AP MCM4 MDFIC MECP2 MED11 MED12 MED25 MED27 MEFV MEG3 MEGF10 MESP2 MFAP5 MFN2 MGAT2 MGME1 MGP MIA3 MICOS13 MID1 MIF MINPP1 MIR140 MKRN3 MKS1 MLX MLYCD MMAA MMAB MMACHC MMP1 MMUT MOG MOGS MORC2 MPC1 MPEG1 MPL MPLKIP MPV17 MPZ MRPL3 MRPS14 MRPS34 MS4A1 MS4A2 MSX1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFR MTM1 MTMR14 MTOR MTTP MUC5B MUC7 MUSK MYBPC1 MYBPC3 MYD88 MYF6 MYH11 MYH3 MYH6 MYH7 MYL1 MYL2 MYL3 MYL4 MYLK MYMK MYO1H MYO9A MYOD1 MYOT MYOZ2 MYPN NAA10 NABP1 NACC1 NADK2 NAGS NALCN NAXE NBN NCAPG2 NCF1 NCF2 NCF4 NDE1 NDN NDUFA1 NDUFA10 NDUFA11 NDUFA2 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN1 NEFH NEK1 NEK10 NEK9 NEMF NF1 NF2 NFASC NFIX NFKB1 NFKB2 NFS1 NFU1 NGLY1 NHLRC2 NKX2-1 NKX2-5 NKX2-6 NLRP3 NME5 NME8 NOD2 NODAL NONO NOS1 NOTCH1 NOTCH2NLC NOTCH3 NPAP1 NPC2 NPHP1 NPHS1 NPM1 NPPA NR1H4 NRXN1 NSF NSUN2 NTNG1 NUBPL NUMA1 NUP155 NUP188 NUP214 NUP88 NUTM2B-AS1 OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OPA1 OPTN ORAI1 ORC1 ORC4 ORC6 OSTM1 OTX2 OXCT1 P4HA2 P4HTM PAM16 PANK2 PARN PAX2 PAX7 PAX8 PBX1 PCCA PCCB PCGF2 PCK1 PCSK9 PDE6D PDGFB PDHA1 PDSS1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGM1 PGM3 PHOX2B PHYH PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGN PIGT PIGY PIK3CA PIK3CD PIK3R1 PIP5K1C PITX2 PKHD1 PKP2 PLA2G6 PLA2G7 PLAA PLAG1 PLAGL1 PLCB3 PLCB4 PLCG2 PLCH1 PLEC PLEKHG5 PLOD1 PLOD2 PLP1 PLPBP PLXND1 PML PMM2 PMP22 PNKD PNPLA2 POGLUT1 POGZ POLG POLG2 POLR1B POLR1C POLR1D POMK POMT1 POMT2 PON1 PON2 PON3 POR PPARGC1A PPCS PPOX PPP1R21 PRDM13 PRIM1 PRKAG2 PRKAR1A PRKAR1B PRKCD PRKCSH PRKG1 PRMT7 PRNP PROC PROS1 PRPH PRPS1 PRR12 PRRT2 PRRX1 PRTN3 PRUNE1 PSAP PSAT1 PTCD3 PTCH1 PTEN PTF1A PTGER2 PTPN22 PTRH2 PUF60 PURA PUS1 PWAR1 PWRN1 PYGM PYROXD1 RAB11B RAC2 RAI1 RALGAPA1 RANBP2 RAPSN RARA RARS2 RBM10 RBPJ RECQL4 REEP1 RELB RELN REN RERE RET RFC1 RFT1 RFX7 RHAG RHCE RHD RIC1 RILPL1 RIPK1 RIPPLY2 RMND1 RMRP RNASEH1 RNASEH2A RNF113A RNF125 RNF13 RNF168 RNF6 RNU4ATAC RPA1 RPGR RPGRIP1L RPL3L RPS26 RPS28 RPS6KA3 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RUNX2 RYR1 SARS2 SAT1 SATB2 SBDS SBF2 SCARB2 SCARF2 SCGB3A2 SCN1B SCN2A SCN2B SCN3B SCN4A SCN4B SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL2 SDCCAG8 SDHA SDHD SEC24C SEC31A SEC63 SELENON SEMA3E SEPSECS SEPTIN9 SERPINA1 SERPINC1 SERPING1 SERPINH1 SETBP1 SETD2 SF3B4 SFTPA1 SFTPA2 SFTPB SFTPC SGCG SH2B3 SH3BP2 SH3TC2 SHH SHPK SIK1 SIK3 SIM1 SIN3A SIX3 SKI SLC11A1 SLC12A3 SLC12A6 SLC18A2 SLC18A3 SLC19A3 SLC1A3 SLC22A5 SLC25A1 SLC25A12 SLC25A15 SLC25A20 SLC25A21 SLC25A24 SLC25A26 SLC25A3 SLC25A4 SLC25A46 SLC26A2 SLC26A4 SLC26A9 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC30A9 SLC31A1 SLC34A2 SLC35A1 SLC37A4 SLC39A7 SLC39A8 SLC41A1 SLC4A1 SLC52A2 SLC52A3 SLC5A7 SLC6A14 SLC6A5 SLC6A9 SLC7A7 SLC9A3 SMAD2 SMAD3 SMAD4 SMAD9 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMC5 SMN1 SMO SMPD1 SMPD4 SMPX SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SOD1 SON SOX9 SP110 SPAG1 SPEF2 SPEG SPG11 SPI1 SPINK5 SPOP SPP1 SPTLC1 SPTLC2 SQSTM1 SREBF1 SRP54 SRPX2 SSR4 STAC3 STAG2 STAT1 STAT2 STAT3 STAT4 STAT5B STIL STIM1 STING1 STK36 STN1 STRA6 STT3B STX16 STX1A STXBP1 SUCLA2 SUCLG1 SUFU SURF1 SYNE1 SYNE2 SYT1 SYT2 TAF15 TALDO1 TARDBP TARS1 TBC1D24 TBCD TBCK TBK1 TBL1XR1 TBR1 TBX1 TBX20 TBX21 TBX4 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TERC TERT TET2 TFAM TFG TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THBD THPO THSD1 THSD4 TICAM1 TIMMDC1 TINF2 TK2 TLK2 TLL1 TLR3 TLR4 TMEM107 TMEM126B TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM43 TMEM67 TMEM70 TNF TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNNC1 TNNC2 TNNI3 TNNT1 TNNT2 TNPO3 TOE1 TOGARAM1 TOM1 TOPORS TOR1A TOR1AIP1 TP63 TP73 TPI1 TPM2 TPM3 TRAF3 TRAF3IP2 TRAF7 TRAIP TRAK1 TRAPPC11 TREM2 TRIM2 TRIP11 TRIP13 TRIP4 TRMT10C TRMT5 TRMU TRPM4 TRPV4 TRPV6 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSPYL1 TTC12 TTC19 TTC21B TTC26 TTN TUBA1A TUBB4A TUFM TWIST1 TWNK TXNDC15 UBA1 UBAC2 UBE2A UBE3B UBQLN2 UFD1 UFM1 UNC13A UNC45A UNC45B UNC80 UNC93B1 UQCRC2 UQCRFS1 USP18 USP7 USP9X VAC14 VAMP1 VAPB VARS2 VCL VCP VHL VMA21 VPS33A VPS51 VRK1 WAC WAS WDR11 WDR19 WDR35 WDR45B WFS1 WIPF1 WT1 WWOX XPNPEP2 XYLT1 XYLT2 YARS2 ZBTB16 ZBTB7A ZC4H2 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF423 ZNF699 ZSWIM6 HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST CYP17A1 MC2R NFKB2 POR RBM28 TXNRD2 HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST ABCC8 ACP5 ADAT3 ADNP AFF4 AIP AKT1 ALMS1 ARMC5 ARNT2 BAP1 BPTF BRCC3 BTK CDH23 CDKN1C CDON CEP57 CHD7 CTSK CYP17A1 DCAF17 DISP1 DLL1 DNAJC21 DYRK1A EFL1 EIF2S3 ESCO2 FANCF FANCI FEZF1 FGF8 FGFR1 FLNB FOXA2 FOXH1 GAS1 GH1 GHRHR GHSR GLI2 GLI3 GMNN GNAS GNB2 GRB10 GRM7 HERC2 HESX1 HNF1A HSD3B2 IARS2 IGF2 KANSL1 KATNIP KCNJ11 KIAA0753 KMT2A LEPR LHX3 LHX4 MADD MAGEL2 MAP2K2 MC2R MED12 MEN1 MKRN3 MPDU1 MRAP NDN NF2 NFKB2 NHLH2 NKX2-1 NNT NODAL NPAP1 OCA2 OTX2 PCSK1 PDGFB PIK3CA PITX2 PLCH1 PNPLA6 POLE POLR3A POLR3GL POMC POR POU1F1 POU3F4 PREPL PRKAR1A PROP1 PSMD12 PTCH1 PWAR1 PWRN1 RBM28 RFWD3 RNPC3 RRAS2 SBDS SHH SIN3A SIX3 SLC29A3 SLC7A7 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOX11 SOX3 SRD5A3 SRP54 STAG2 STAR STAT5B STIL STX16 SUFU TBCE TBCK TBX2 TDGF1 TERT TGIF1 THOC2 TMCO1 TMEM67 TP63 TRAF7 TXNRD2 UCP2 VPS13B WASHC5 WDR4 YY1 ZIC2 ZNF148 HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST ABCC8 HNF1A KCNJ11 MED12 UCP2 HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST GHRHR LHX4 MC2R MRAP NNT POU1F1 STAR TXNRD2 HP_ABNORMAL_RESPONSE_TO_SOCIAL_NORMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_SOCIAL_NORMS ADSL ATP10A ATRX BAZ1B BCL7B BUD23 CDKL5 CHAMP1 CLIP2 CSF1R DDX59 DNAJC30 DYRK1A EIF4H ELN FKBP6 GABBR2 GATAD2B GLI3 GRIK2 GRIN1 GTF2I GTF2IRD1 GTF2IRD2 HSD17B10 KANSL1 LIMK1 MAPT MBD5 MECP2 MED13L METTL27 MLXIPL NCF1 NOVA2 NTNG1 NTNG2 OCA2 PDE2A PGAP1 PIGH PIGS POGZ PSEN1 RFC2 SLC6A17 SLC9A6 SMARCA2 SMC1A SNRPN STX1A TBC1D2B TBL2 TELO2 TMEM270 UBE3A VPS37D WDR4 HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY ABCB6 ABCG8 ADA2 ADAMTS13 AMN ANK1 BCL11A CASK CASP10 CDAN1 CDIN1 CFH CFHR1 CFHR3 CLCN7 CPOX CUBN EPB41 EPB42 FANCA FANCC FANCD2 FANCE FAS FASLG G6PD GATA1 GCLC GYPC HBB HBG1 HBG2 HEATR3 HK1 IFNG KCNN4 KLF1 MTTP MYSM1 NHLRC2 PFKM PGK1 PIEZO1 PIGA PKLR PRF1 PRKCD RASGRP1 RHAG RHCE RHD RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS SEC23B SLC2A1 SLC4A1 SPTA1 SPTB STEAP3 TCN2 TERC TERT TSR2 UROS HP_ABNORMAL_RETINAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_MORPHOLOGY AARS1 ABCA4 ABCB6 ABCC6 ABCC8 ABHD12 ACBD5 ACD ACO2 ACOX1 ACTA2 ACTB ACTG1 ACTL6B ACVRL1 ADAM9 ADAMTS18 ADAMTSL1 ADAMTSL4 ADAR ADGRV1 AGBL5 AGXT AHI1 AHR AIPL1 AIRE AKT1 ALDH1A3 ALDH3A2 ALDH6A1 ALG12 ALG6 ALG8 ALMS1 ALPK1 AMACR ANK1 ANO10 ANTXR1 AP3B2 AP3D1 AP5Z1 APC APOB APOC2 APOE APPL1 ARHGEF18 ARL13B ARL2 ARL2BP ARL3 ARL6 ARL6IP6 ARMC9 ARSG ARV1 ARVCF ASAH1 ASPA ASXL1 ATCAY ATF6 ATG7 ATOH7 ATP1A2 ATP1A3 ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A2 ATP6V1A ATP6V1E1 ATPAF1 ATPAF2 ATXN2 ATXN7 B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BANK1 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL7B BCOR BCS1L BEST1 BLK BLM BLOC1S3 BLOC1S5 BMP4 BUD23 C12orf57 C1QTNF5 C2CD3 C4A C4B C9 CA2 CA4 CABP4 CACNA1A CACNA1B CACNA1F CACNA2D1 CACNA2D4 CAPN5 CARS1 CASK CAV1 CBS CC2D2A CCDC103 CCDC22 CCDC28B CCDC39 CCDC40 CCDC65 CCM2 CCND1 CCNO CCNQ CCR1 CDH23 CDH3 CDHR1 CDK19 CDK4 CDKN2A CDKN2B CEL CELF2 CENPF CEP120 CEP164 CEP19 CEP290 CEP41 CEP78 CEP83 CERKL CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP74 CFH CFHR1 CFHR3 CFI CHD7 CHEK2 CHM CHN1 CHRDL1 CHST14 CHST6 CIB2 CLCC1 CLCN2 CLCN3 CLCNKB CLDN19 CLEC3B CLIP2 CLN3 CLN5 CLN6 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 COA8 COG1 COL11A1 COL11A2 COL18A1 COL2A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 COMT COQ2 COX15 COX7B COX8A CP CPLANE1 CPLX1 CR2 CRB1 CREBBP CRLS1 CRPPA CRX CRYAB CSPP1 CST3 CTBP1 CTC1 CTLA4 CTNNA1 CTNNB1 CTNS CTSA CTSD CWC27 CYFIP2 CYP1B1 CYP27A1 CYP4V2 CYSLTR2 DACT1 DAG1 DALRD3 DARS1 DCT DDR2 DEAF1 DGCR2 DGCR6 DGCR8 DHDDS DHX16 DHX38 DLAT DLK1 DLST DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNASE1 DNM1 DNM2 DNMT3A DNMT3B DPAGT1 DPM1 DPP6 DPYD DPYSL5 DRAM2 DRC1 DSE DST DUX4 DUX4L1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP EDN3 EDNRB EEF1A2 EFEMP1 EIF4H ELMO2 ELN ELOVL4 ENG ENPP1 EPAS1 EPG5 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN ESS2 ETHE1 ETS1 EXOSC2 EXOSC3 EYS F12 FAM111A FAM161A FAS FBLN1 FBLN5 FBN1 FBN2 FBXO28 FCGR2B FCGR3B FDXR FGF12 FGF13 FGF3 FGFR1 FGFR2 FH FIBP FKBP6 FKRP FKTN FLCN FLII FLNB FLVCR1 FOXC1 FOXE3 FOXJ1 FRG1 FSCN2 FUCA1 FZD4 FZR1 G6PC1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GALNT3 GAS2L2 GAS8 GATA3 GBA1 GCDH GCK GDF2 GDF3 GDF6 GFPT1 GGCX GLB1 GM2A GMPPB GNA11 GNAQ GNAT1 GNAT2 GNB3 GNB5 GNPTAB GP1BB GPIHBP1 GPR143 GPR179 GRHL2 GRIN2D GRK1 GRM6 GRN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1A GUCA1B GUCY2D GZF1 HACE1 HADH HADHA HADHB HARS1 HBB HBG1 HBG2 HCCS HCN1 HEXA HEXB HGSNAT HHAT HID1 HIRA HK1 HKDC1 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMCN1 HMGB3 HMX1 HNF1A HNF4A HPS4 HPS5 HPS6 HSD11B2 HSD17B10 HSPD1 HTRA1 HYDIN IDH3A IDH3B IDS IDUA IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IFT88 IGFBP7 IGHG1 IKBKG IL10 IL12A IL12A-AS1 IL12B IL23R IMPDH1 IMPG1 IMPG2 INPP5E INS INSR INTS1 INVS IPO8 IQCB1 IQSEC2 IRAK1 IRF5 ISCA1 ITGAM ITM2B IVNS1ABP JAG1 JAZF1 JMJD1C KATNB1 KCNA2 KCNB1 KCNJ11 KCNJ13 KCNV2 KIAA0319L KIAA0586 KIAA0753 KIAA1549 KIF11 KIF1B KIF3B KIF5A KIZ KLF1 KLF11 KLHL7 KLRC4 KRAS KRIT1 KRT25 KRT71 KRT74 LAMA1 LAMB2 LARGE1 LCA5 LCK LETM1 LIG3 LIMK1 LIPH LMNA LOXL1 LOXL3 LPAR6 LPL LRAT LRIT3 LRP2 LRP5 LRRC32 LRRC56 LTBP2 LYST LZTFL1 MAB21L1 MAF MAFB MAGEL2 MAK MAN2B1 MAN2C1 MAPKAPK3 MAPRE2 MAX MC1R MCIDAS MCOLN1 MDH2 MECP2 MECR MED12 MEFV MEG3 MERTK METTL27 MFRP MFSD8 MGMT MIA3 MICOS13 MIR204 MITF MKKS MKS1 MLX MLXIPL MMACHC MORC2 MPDZ MPLKIP MSRB3 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTSS2 MTTP MVK MYD88 MYO5A MYO6 MYO7A MYOC NAA10 NBN NCAPG2 NCF1 NDE1 NDP NDUFA1 NDUFA9 NDUFAF1 NDUFB11 NDUFS2 NECAP1 NEK1 NEK10 NEK2 NEK8 NELFA NEU1 NEUROD1 NF1 NF2 NGLY1 NHS NLRP3 NME5 NME8 NMNAT1 NOD2 NOTCH2NLC NPHP1 NPHP3 NPHP4 NR2E3 NRCAM NRL NSD2 NSMCE2 NTRK2 NUS1 NYX OAT OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPA1 OPN1LW OPN1MW OPN1SW OTX2 OVOL2 P3H2 P4HA2 PACS2 PAK2 PANK2 PARS2 PAX2 PAX4 PAX6 PCARE PCDH15 PCNA PCYT1A PDCD1 PDCD10 PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDGFRB PDX1 PDZD7 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHYH PIBF1 PIEZO2 PIGG PIGL PIK3CA PISD PITPNM3 PLA2G5 PLK4 PLOD1 PMM2 PNPLA6 POC1B POGZ POLG POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POT1 POU3F4 PPP2R3C PPP3CA PPT1 PRCD PRDM5 PRDX1 PRF1 PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRSS56 PRTN3 PRUNE1 PSAP PTCH1 PTEN PTPN22 PUF60 PUS1 PXK RAB18 RAB28 RAB3GAP1 RAB3GAP2 RAI1 RAX RAX2 RB1 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RELN RERE RET RFC2 RGR RHO RIMS1 RIMS2 RLBP1 RMRP RNASEH1 RNF113A RNF216 RNU4ATAC RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPS6KA3 RREB1 RRM2B RS1 RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RTTN RXYLT1 SACS SAG SALL1 SALL2 SALL4 SAR1B SBDS SCAPER SCLT1 SCN3A SCN8A SDCCAG8 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SEC24C SELENOI SEMA3E SEMA4A SERPINC1 SETD2 SF3B1 SH2B1 SH3BP2 SHH SIM1 SIX3 SIX6 SLC12A6 SLC13A5 SLC19A2 SLC1A2 SLC24A1 SLC24A5 SLC25A11 SLC25A15 SLC25A19 SLC35A2 SLC37A4 SLC38A3 SLC38A8 SLC45A2 SLC6A6 SLC7A14 SMAD4 SMCHD1 SMPD1 SNRNP200 SOX10 SOX2 SPAG1 SPATA7 SPEF2 SPG11 SPP1 SPTBN1 SRD5A3 SSBP1 STAT3 STAT4 STK36 STN1 STUB1 STX1A SUMF1 SURF1 SYCE1 SYNGAP1 SYNJ1 SZT2 TAF2 TARS1 TBC1D20 TBL2 TBX1 TBX22 TCTN1 TCTN2 TCTN3 TEAD1 TEK TELO2 TENM3 TERC TERF2IP TERT TFAP2A THSD1 TIMP3 TINF2 TK2 TLCD3B TLR4 TLR7 TMCO1 TMEM107 TMEM127 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMEM98 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF4 TNIP1 TOPORS TP53 TPP1 TRAF3IP1 TRAK1 TRAPPC2 TRAPPC9 TREX1 TRIM32 TRIM37 TRIM44 TRIP13 TRNT1 TRPM1 TRPM3 TSC1 TSC2 TSPAN12 TTC12 TTC21B TTC8 TTLL5 TTPA TUB TUBB TUBB4B TUBGCP4 TUBGCP6 TULP1 TWNK TXN2 TXNDC15 TYR UBA5 UBAC2 UBE2L3 UBE3B UFD1 UGP2 UNC119 USH1C USH1G USH2A USP45 VCAN VHL VPS13B VPS33A VPS35L VPS37D VPS41 VPS4A VSX1 WAC WARS2 WASHC5 WDPCP WDR19 WFS1 WHRN WRN WT1 WWOX XRCC4 XYLT1 XYLT2 YAP1 YARS1 YME1L1 YWHAG ZEB1 ZEB2 ZFYVE26 ZMYND10 ZNF408 ZNF423 ZNF469 ZNF513 ZNF668 ZPR1 HP_ABNORMAL_RETINAL_MORPHOLOGY_ON_MACULAR_OCT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_MORPHOLOGY_ON_MACULAR_OCT ATF6 CLCC1 CLEC3B CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D HLA-A PDE6C PDE6H PMM2 PRPH2 RLBP1 RPGR SELENOI SLC24A5 SLC6A6 TIMP3 TRNT1 HP_ABNORMAL_RETINAL_NERVE_FIBER_LAYER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_NERVE_FIBER_LAYER_MORPHOLOGY CYP27A1 DNAJC30 OPA1 PDGFRB SACS HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY ABCA4 ABCC6 ACVRL1 AGBL5 AHI1 AHR AIPL1 ANTXR1 APOC2 ARHGEF18 ARL2BP ARL3 ARL6 ARV1 ARVCF ASAH1 ATF6 BAZ1B BBS1 BBS2 BBS9 BCL7B BEST1 BUD23 CA4 CAPN5 CC2D2A CCDC28B CCM2 CCND1 CDHR1 CENPF CERKL CFAP410 CFAP418 CHM CLCC1 CLCNKB CLIP2 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL18A1 COL4A1 COMT CRB1 CRX CTC1 CTNNB1 CTSA CYP1B1 CYP27A1 DARS1 DGCR2 DGCR6 DGCR8 DHDDS DHX38 DLK1 DLST DNAJC30 DNMT3A DNMT3B DUX4 DUX4L1 EFEMP1 EIF4H ELN ENG ENPP1 EPAS1 ERCC4 ESS2 ETHE1 EYS F12 FAM161A FGF12 FH FKBP6 FLVCR1 FRG1 FSCN2 FUCA1 FZD4 G6PC1 GALC GDF2 GGCX GLB1 GM2A GNAQ GNAT2 GP1BB GPIHBP1 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D HARS1 HEXA HEXB HGSNAT HIRA HK1 HLA-A HSD11B2 IDH3A IDH3B IFT140 IFT172 IFT43 IFT88 IGFBP7 IKBKG IMPDH1 IMPG1 IMPG2 IVNS1ABP JMJD1C KIAA1549 KIF1B KIZ KLHL7 KRIT1 LAMB2 LCA5 LCK LIMK1 LOXL1 LPL LRAT LRP5 LRRC32 MAK MAX MDH2 MEG3 MERTK METTL27 MKS1 MLXIPL MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MVK MYD88 MYOC NCF1 NDP NDUFS2 NEK1 NEK2 NEU1 NF1 NMNAT1 NOD2 NR2E3 NRL NUS1 OFD1 PAX6 PCARE PCNA PDCD10 PDE6A PDE6B PDE6C PDE6G PDE6H PIK3CA POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP RAX2 RBP3 RDH11 RDH12 RDH5 REEP6 RET RFC2 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RREB1 RTL1 RTTN SAG SCAPER SDHA SDHAF2 SDHB SDHC SDHD SEC24C SELENOI SEMA4A SERPINC1 SETD2 SLC24A1 SLC25A11 SLC37A4 SLC6A6 SLC7A14 SMAD4 SMCHD1 SMPD1 SNRNP200 SPATA7 SSBP1 STN1 STX1A TBL2 TBX1 TLCD3B TMEM127 TMEM231 TMEM270 TOPORS TREX1 TSPAN12 TTC8 TUB TULP1 UFD1 UNC119 USH2A USP45 VHL VPS37D WDR19 WT1 YME1L1 ZNF408 ZNF513 HP_ABNORMAL_RIB_CAGE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_CAGE_MORPHOLOGY ABCC9 ABCD4 ACAN ACP5 ACTA1 ACTB ADA ADAMTS10 AFF3 AIFM1 AKT1 ALDH1A2 ALG12 ALPL AMER1 ANK1 ANKRD11 ANTXR1 APC AR ARSB ARSK ARSL ATP6V1B2 ATP7A ATR B3GALT6 B3GAT3 B4GAT1 BANF1 BCOR BGN BIN1 BMP1 BMP2 BMPER BRAF C2CD3 CA2 CANT1 CASZ1 CBL CCDC22 CCDC8 CDC42BPB CDC45 CDC6 CDON CDT1 CENPJ CEP120 CEP152 CFAP410 CHD7 CHRM3 CHRNA1 CHRND CHRNG CHST3 CILK1 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL13A1 COL1A1 COL1A2 COL2A1 COMP CPLANE1 CPLX1 CREB3L1 CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CTNS CUL7 CYP27B1 CYP2R1 DACT1 DDR2 DDRGK1 DHCR7 DISP1 DLK1 DLL1 DLL3 DNAJC21 DNM2 DNMT3A DONSON DPYSL5 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EFL1 EFNB1 EIF2AK3 ERMARD ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EZH2 FAM111A FBN1 FERMT1 FGF8 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLNA FLNB FOXF1 FOXH1 FUCA1 FUZ GABRD GALNS GAS1 GATA4 GATA6 GDF11 GDF3 GDF6 GLB1 GLE1 GLI2 GLI3 GMNN GNPTAB GNPTG GNS GPC3 GPC4 GPKOW GPX4 GUSB H19 HDAC6 HERC1 HES7 HGSNAT HHAT HNF1B HNRNPR HOXD13 HRAS HSPG2 IDH1 IDS IDUA IFT122 IFT140 IFT172 IFT43 IFT57 IFT80 IFT81 IGF1R IGF2 IHH IKBKG IL1RN INPPL1 INTU IRF6 JAG1 KAT6A KCNAB2 KCNJ8 KCNQ1OT1 KDELR2 KIAA0586 KIAA0753 KLHL40 KLHL41 KMT2A KRAS KYNU LAMA5 LBR LETM1 LFNG LIFR LMNA LMOD3 LMX1B LRP4 LRP5 LUZP1 LZTR1 MAF MAMLD1 MAN2B1 MAP2K1 MAP3K7 MAPK1 MATN3 MEG3 MEOX1 MESD MESP2 MGAT2 MGP MMP13 MMP23B MRAS MTM1 MTMR14 MTX2 MUSK MYF5 MYF6 MYH3 NAA10 NAGLU NALCN NEB NEK1 NEK9 NELFA NFASC NIPBL NKX3-2 NODAL NOG NRAS NSD2 NSDHL NUP88 NXN OBSL1 OCRL ODC1 ORC1 ORC4 ORC6 P3H1 P4HB PAICS PAM16 PAX3 PAX7 PCGF2 PCYT1A PDGFRB PDPN PEX1 PHEX PIGG PLCB3 PLOD1 POLR3A POP1 POR PORCN PPIB PPP3CA PRDM16 PRIM1 PRKACA PRKACB PRKCZ PRKG2 PTCH1 PTDSS1 PTEN PTH1R PTPN11 PUF60 RAB33B RAB5IF RAF1 RASA2 RBM8A RECQL4 RERE RIPPLY2 RIT1 RMRP RNU12 RNU4ATAC ROR2 RPS19 RPS26 RRAS RRAS2 RSPO2 RTL1 RTTN RUNX2 RYR1 SALL1 SBDS SCARF2 SCN4A SCUBE3 SEC24D SELENON SEMA3E SERPINH1 SETBP1 SF3B2 SF3B4 SGSH SH2B1 SHH SIX3 SIX6 SKI SLC26A1 SLC26A2 SLC34A1 SLC34A3 SLC35D1 SMAD4 SMO SNRPB SNX10 SON SOS1 SOS2 SOST SOX2 SOX9 SP7 SPEN SPRED2 SRCAP SRP54 STIL TAPT1 TBC1D24 TBCE TBCK TBX15 TBX5 TBX6 TCIRG1 TDGF1 TENT5A TFE3 TGIF1 TMCO1 TMEM53 TNFRSF11A TNFRSF11B TNFSF11 TOR1A TRAPPC2 TRIP11 TRPV4 TRPV6 TTC21B UBA1 UBE3B UBE4B USP18 VAC14 VANGL1 VDR VPS33A VPS35L WASHC5 WDR19 WDR35 WNT1 WNT3 WNT4 WNT7A XYLT1 XYLT2 ZIC2 ZMPSTE24 HP_ABNORMAL_RIB_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_MORPHOLOGY ABCC9 ABCD4 ACTA1 ACTB ADA ADAMTS10 AFF3 AIFM1 ALDH1A2 ALG12 ALPL AMER1 ANK1 ANKRD11 APC ARSB ARSK ARSL ATP6V1B2 ATP7A ATR B3GALT6 B3GAT3 B4GAT1 BANF1 BGN BIN1 BMP2 BMPER C2CD3 CA2 CASZ1 CCDC22 CCDC8 CDC45 CDC6 CDON CDT1 CENPJ CEP120 CEP152 CFAP410 CHD7 CHRM3 CHRNA1 CHRND CHRNG CHST3 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COMP CPLANE1 CPLX1 CREB3L1 CRTAP CSPP1 CTBP1 CTNS CUL7 CYP27B1 CYP2R1 DACT1 DDR2 DDRGK1 DHCR7 DISP1 DLK1 DLL1 DLL3 DNAJC21 DNM2 DNMT3A DONSON DPYSL5 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EFL1 ERMARD ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EZH2 FAM111A FBN1 FERMT1 FGF8 FGFR3 FGFRL1 FIG4 FLI1 FLNA FLNB FOXF1 FOXH1 FUZ GABRD GALNS GAS1 GATA6 GDF11 GDF3 GDF6 GLB1 GLE1 GLI2 GLI3 GMNN GNPTAB GNS GPC3 GPC4 GPX4 GUSB HDAC6 HES7 HGSNAT HNF1B HNRNPR HOXD13 HSPG2 IDS IDUA IFT122 IFT140 IFT172 IFT43 IFT57 IFT80 IFT81 IHH IKBKG IL1RN INPPL1 INTU IRF6 JAG1 KCNAB2 KCNJ8 KIAA0586 KIAA0753 KLHL40 KLHL41 KMT2A KYNU LAMA5 LBR LETM1 LFNG LIFR LMNA LMOD3 LMX1B LRP4 LRP5 LUZP1 MAF MAMLD1 MAN2B1 MAP3K7 MATN3 MEG3 MEOX1 MESP2 MGP MMP13 MMP23B MTM1 MTMR14 MTX2 MUSK MYF5 MYF6 MYH3 NAGLU NALCN NEB NEK1 NEK9 NELFA NFASC NIPBL NKX3-2 NODAL NOG NSD2 NSDHL NUP88 NXN OBSL1 OCRL ODC1 ORC1 ORC4 ORC6 P3H1 P4HB PAICS PAM16 PAX3 PCYT1A PDGFRB PDPN PHEX PIGG PLCB3 PLOD1 POLR3A POR PORCN PPIB PPP3CA PRDM16 PRIM1 PRKCZ PRKG2 PTCH1 PTDSS1 PTH1R PTPN11 PUF60 RBM8A RECQL4 RERE RIPPLY2 RMRP RNU12 RNU4ATAC ROR2 RPS19 RPS26 RRAS2 RSPO2 RTL1 RTTN RUNX2 RYR1 SALL1 SBDS SCARF2 SCN4A SCUBE3 SEC24D SEMA3E SERPINH1 SETBP1 SF3B2 SF3B4 SGSH SH2B1 SHH SIX3 SIX6 SKI SLC26A1 SLC26A2 SLC34A1 SLC34A3 SLC35D1 SMAD4 SMO SNRPB SNX10 SON SOST SOX2 SOX9 SP7 SPEN SRCAP SRP54 STIL TAPT1 TBC1D24 TBCE TBCK TBX5 TBX6 TCIRG1 TDGF1 TENT5A TFE3 TGIF1 TMCO1 TMEM53 TNFRSF11A TNFSF11 TOR1A TRIP11 TRPV4 TRPV6 TTC21B UBA1 UBE4B USP18 VAC14 VANGL1 VDR VPS35L WASHC5 WDR19 WDR35 WNT1 WNT3 WNT4 WNT7A XYLT1 ZIC2 ZMPSTE24 HP_ABNORMAL_RIB_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_OSSIFICATION BMPER COL10A1 DNAJC21 EBP LBR MGP SBDS SLC26A2 SRP54 HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY ACTA1 ACTC1 ALG9 ALPK3 ATP13A3 BMPR2 BTK CDH2 CFTR CITED2 COLQ CTNNA3 DSC2 DSG2 DSP DYSF FCGR2A FIBP FLNA FNIP1 FOXF1 GATA4 GATA6 GPC3 GPC4 GTPBP3 HACD1 IPO8 ITGA7 JUP KMT2D LAMB2 LTBP4 MAP3K20 MMP21 MYH6 MYH7 MYL2 NKX2-5 NKX2-6 NONO NOTCH1 NPHP3 PIGN PKP2 PLD1 PLXND1 SCN5A SELENON SFTPB SGCG SLC25A12 SREBF1 STAMBP TBX20 TGFB1 TGFB3 TLL1 TMEM43 TPM2 TPM3 TRAPPC11 TTN VIPAS39 VPS33B HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION ACTC1 ATP13A3 ATRX BMPR2 CITED2 DAXX DVL1 EIF2AK4 GATA4 GATA6 MYH6 MYH7 NKX2-5 ROR2 SDHD SELENON SLC34A2 TBX20 TLL1 TTN WNT5A HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS AFG3L2 AGTPBP1 ALS2 ANO10 APTX ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS CACNA1A CACNA1G CHP1 CLCN7 COQ5 DARS2 DHX16 DNAJC6 EEF2 ELOVL5 FBXO7 FRMD5 FXN GBA1 GBA2 GDAP2 GJC2 GRM1 INPP5E ITPR1 KCNN2 KIF1A KIF1B MAPT MECR MFN2 MME MRE11 MYORG NDUFA13 NKX6-2 NOP56 NPHP1 PDYN PEX10 PEX2 PIK3R5 PLA2G6 PLD3 PNKP PRDX3 PRNP SCP2 SCYL1 SHMT2 SLC1A3 SLC35A2 SLC44A1 SLC6A3 SNCA SNX10 SOX3 SPTBN2 SYNE1 SYT2 TCIRG1 TGM6 TMEM216 TMEM240 TNFSF11 TNR TPP1 TUBB3 TUBB4A UBAP1 VAMP1 VPS13A VPS13D VPS41 XRCC1 HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY DMP1 ENPP1 FGFR3 HLA-B PHEX TNFRSF1A TWIST2 HP_ABNORMAL_SACRUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACRUM_MORPHOLOGY AEBP1 AFF3 ANK1 APC2 ARID1B ASXL1 B3GLCT B9D2 BAP1 BAZ1B BCL7B BICD2 BMPER BUD23 CAMK2G CAPN15 CCL2 CD96 CDK10 CLIP2 COL2A1 COLEC10 COX7B CPLX1 CTBP1 CTCF DCHS1 DEAF1 DHCR7 DHPS DICER1 DMP1 DNAJC30 DVL1 DVL3 DYRK1A EBP EIF4H ELN ENPP1 ERF EXTL3 FANCB FANCF FANCL FAT4 FGF20 FGFR2 FGFR3 FGFRL1 FKBP6 FLNB FUCA1 FUZ FZD2 GDF3 GDF6 GFRA1 GNB2 GNS GREB1L GTF2I GTF2IRD1 GTF2IRD2 H4C5 HAAO HCCS HIC1 HLA-B HNRNPK HOXA13 HOXD13 IL6ST ITGA8 KANSL1 KCNK9 KIF15 KMT2A LBR LETM1 LIFR LIG4 LIMK1 MAN2C1 MASP1 MED12 MEOX1 METTL27 MLXIPL MNX1 NADSYN1 NCAPG2 NCF1 NDUFB11 NELFA NODAL NOTCH3 NSD1 NSD2 NSUN2 NXN ODC1 OTUD6B PAFAH1B1 PAM16 PDGFRB PHEX PIGG POC1A POLA1 PRMT7 PRR12 PSMD12 PTH1R RAB23 RET RFC2 RMRP ROR2 RPL10 RPS19 RTTN RUNX2 SCARF2 SETBP1 SETD2 SETD5 SHANK3 SLC26A2 SMC5 SMG9 SMOC1 SPOP SRD5A3 STX1A SUGCT TAF1 TBL2 TBX1 TBX4 TBX6 TBXT TCF4 TMCO1 TMEM270 TNFRSF1A TP63 TRIP11 TWIST2 USP9X VANGL1 VANGL2 VPS37D WLS WNT5A WNT7A WNT9B YWHAE ZIC3 ZNF699 HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY ATP2A2 B2M BTNL2 CXCR4 FGF10 FGFR2 FGFR3 GRHL3 HLA-DRB1 IRF6 MLH1 MSH2 MSH6 NOD2 OGDH PLAG1 PSMB8 TCOF1 TP63 HP_ABNORMAL_SARCOMERE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SARCOMERE_MORPHOLOGY ACTN2 ANO5 DES FXR1 KY LAMA2 LMOD2 NOTCH2NLC RYR1 SQSTM1 TNNT1 TTN UNC45B HP_ABNORMAL_SCALP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCALP_MORPHOLOGY AARS1 ABCC9 ACD ACTB ACTG1 ADA2 ADAM17 ADARB1 ADNP AEBP1 AGPAT2 AHSG AIFM1 ALDOA ALG11 ALG12 ALG9 ALX1 ALX3 ALX4 ANKRD11 ANKRD17 ANTXR1 APC APC2 APCDD1 ARHGEF2 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 ATR ATRIP ATRX AXIN2 B3GALT6 B3GAT3 B4GALT7 BANF1 BICRA BRAF BRCA1 BRD4 BSCL2 C3orf52 CACNA1C CARS1 CAV1 CAVIN1 CBL CBS CCDC22 CCNK CDC42BPB CDH1 CDH2 CDH23 CDH3 CDK13 CDK5 CDSN CENPE CENPJ CEP152 CHN1 CHRNG CHST3 CIT CLCN3 CLDN1 CNOT3 COG5 COG7 COL17A1 COL18A1 COL3A1 COL7A1 CPLX1 CPOX CREBBP CRIPT CST6 CTBP1 CWC27 DCLRE1B DCLRE1C DEAF1 DHX30 DKC1 DLX4 DNA2 DOCK6 DOCK7 DPF2 DPH1 DPH2 DPM2 DSC3 DSG4 EBP ECM1 EDARADD EDEM3 EFNB1 EGFR EIF5A EMC1 EP300 EPS8L3 ERCC2 ERCC3 ERMARD EXT1 FAS FAT4 FGD1 FGFR2 FGFR3 FGFRL1 FIG4 FKRP FLI1 FLNA FOS FRAS1 FREM1 FREM2 FRMD4A GATA1 GDF11 GDF3 GDF6 GJA1 GJB2 GJB6 GMPPA GNB2 GNE GTF2E2 GTF2H5 H1-4 H3-3A H4C5 HDAC4 HDAC8 HEATR3 HLA-DRA HNF1B HPGD HR HRURF HS2ST1 HSPG2 HTRA1 HUWE1 HYOU1 IFIH1 IFT140 IGF1 IGF1R INSR INTU IPO8 IRX5 ITGA3 ITGB4 ITGB6 JARID2 JUP KANK2 KAT6B KCNH1 KCNJ8 KCNN3 KCTD1 KDF1 KDM1A KDM4B KIFBP KLHL24 KMT2A KNSTRN KRAS KREMEN1 KRT14 KRT17 KRT25 KRT74 LAMA3 LAMB3 LAMC2 LETM1 LIG4 LIPH LMNA LMX1B LPAR6 LRP2 LRPPRC LSS LTV1 LZTR1 MAB21L1 MADD MAF MAFB MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBD5 MBTPS2 MED12 MED13L MED25 MEGF8 MEIS2 MEOX1 MGAT2 MID1 MMP1 MPLKIP MRAS MSX2 MYH3 MYO18B NANS NBN NDE1 NECTIN4 NELFA NEPRO NF1 NFIX NFKBIA NHP2 NIPBL NOP10 NOTCH2 NOTCH3 NOVA2 NR3C1 NRAS NSD1 NSD2 NSUN2 NTRK1 NUDT2 NUP85 OCRL ODC1 PACS1 PARN PCGF2 PCNT PEPD PEX1 PEX19 PEX6 PGAP1 PHF8 PI4KA PIGG PIGK PIK3C2A PIK3CD PKP1 PLEC PLK4 POLR1B POLR1C POLR1D POLR3A PPARG PPP1CB PPP1R15B PRDM13 PRKD1 PTDSS1 PTPN11 PTPN22 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RALGAPA1 RASA2 RBBP8 RBL2 RECQL4 RERE RHOA RHOBTB2 RIN2 RIPK4 RIT1 RNF113A RNU12 RNU4ATAC RPL11 RPL15 RPL18 RPL21 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RTEL1 SALL4 SASH1 SATB1 SCNM1 SETD2 SETD5 SH2B1 SHOC2 SIN3A SLC12A6 SLC25A24 SLC27A4 SLC29A3 SLC35C1 SLC39A4 SLC9A7 SLCO2A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMPD4 SNRPE SOS1 SOS2 SOX11 SOX18 SOX4 SPATA5L1 SPECC1L SPEN SPINK5 SPOP SPRED1 SPRED2 SRCAP SRY STAG2 STT3A SVBP SYT1 TAF6 TARS1 TBC1D20 TBC1D24 TBL1XR1 TBX15 TBX2 TCF12 TCOF1 TECPR2 TERT TFAP2A THOC6 TINF2 TMCO1 TP53 TP63 TRAIP TRIO TRMT10A TRPM3 TRPS1 TSC1 TSPEAR TSR2 TTC5 TTC7A TWIST1 TWIST2 UBA2 UBE2A UBR1 UGP2 UROD UROS USB1 USP48 USP8 VAC14 VPS13B VPS33A VPS51 WASHC5 WBP11 WLS WNT10A WNT4 WRN XRCC4 XYLT2 ZBTB20 ZC4H2 ZIC1 ZNF699 HP_ABNORMAL_SCAPULA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCAPULA_MORPHOLOGY ACTA1 ACTB ADA ADA2 ALG14 ALG2 ANO5 ANXA11 ASH1L ATP6V0A2 BAG3 BICD2 BIN1 BRAF C19orf12 CAPN3 CCDC8 CDH2 COL11A1 COL11A2 COL12A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA CSGALNACT1 CUL7 DLK1 DNM1L DPAGT1 DSTYK DYM DYSF EFNB1 EMD EMILIN1 EXT1 EXT2 EYA1 FBN1 FGFR1 FGFR3 FHL1 FIG4 FLNA FLNB FLNC FRG1 GATA1 GDF11 GDF3 GDF6 GFPT1 GMPPB GNE GNPTAB GPX4 GSC GYG1 HEATR3 HSPG2 INPPL1 KBTBD13 KCNJ2 KLHL41 LAMB2 LBR LEMD3 LGI4 LMNA LMX1B LRIF1 LYSET MAP3K7 MEG3 MEOX1 MYBPC1 MYH2 MYH7 MYPN NEB NEFL NPR2 NSDHL OBSL1 OPA1 ORC1 PAX1 PAX3 PCNT PLIN4 POGLUT1 POLG POMT2 POR PRR12 PSMB8 PTCH1 PTPN11 PUS1 PYROXD1 RAF1 RIPK4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 RTL1 RUNX2 RYR1 RYR3 SCARF2 SCN4A SEPTIN9 SF3B4 SGCA SGCB SGCD SGCG SLC35D1 SMCHD1 SMPX SOST SOX9 SPEG SPRED2 SPTLC1 SQSTM1 SYNE1 SYNE2 TBX15 TBX2 TBX3 TBX5 TGFB3 TK2 TMCO1 TMEM43 TNNT1 TNPO3 TPM2 TPM3 TRIO TRIP11 TRPS1 TRPV4 TSR2 TTN TWNK VAC14 VCP VWA1 WBP11 WDR35 HP_ABNORMAL_SCLERA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCLERA_MORPHOLOGY ABCC6 ADAMTS2 AKT1 ALPL ARL2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BCL11A BEST1 BMP1 C1R CA2 CANT1 CFAP410 CHST14 CHST3 CHSY1 CLCNKB COG4 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 CREB3L1 CRTAP CSGALNACT1 CTSK CYB5A CYB5R3 DACT1 DNASE1L3 DPAGT1 DSE DVL1 DVL3 ENPP1 ESCO2 EXOSC1 FBN1 FGFR1 FKBP10 FKBP14 FZD2 GATA1 GDF11 GHR GNB2 HADHA HECTD4 HGD IDS IFITM5 IGF2 IKBKG IMPG2 INPPL1 IPO8 KDM1A KDM6A KIFBP KMT2A KMT2D KRAS LRP5 MAP3K7 MBTPS2 MC1R MED27 MEGF8 MESD MFRP MSX2 MVK NFIX NLRP3 NXN OCA2 P4HB PAX1 PAX2 PGM1 PIGT PLOD1 POLR3A POLRMT PPIB PPP1R15B PPP1R21 PRDM5 PRKAR1A PRKG2 PRMT7 PRSS56 PSMB8 PTEN PUS3 PYCR1 RMRP ROR2 RPS23 RYR3 SALL1 SEC24D SERPINH1 SF3B2 SLC26A2 SLC29A3 SLC39A13 SON SP7 TELO2 TENT5A TGFB3 TGFBR1 TGFBR2 TMEM163 TMEM38B TRMT10A TRMT5 UNC45A UROD UROS VPS4A WASF1 WNT1 WNT5A WWOX XYLT1 XYLT2 ZNF469 HP_ABNORMAL_SCROTAL_RUGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCROTAL_RUGATION MINPP1 NR5A1 SOX9 SRY TOE1 HP_ABNORMAL_SECOND_TOE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SECOND_TOE_MORPHOLOGY ATP6V1B2 BCOR BMP2 BMPR1B CHSY1 GDF5 HNRNPR IPO8 KCNN3 MAP3K20 PIGL SMARCA2 TBC1D24 TBC1D2B HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY ABCC9 ADAMTSL2 ALDH18A1 ATRX BMP4 BRAF CDH11 CDH23 DYM FLNA GLB1 GNPTAB GUSB IDUA LHX4 MAF MAN2B1 MTX2 NAA10 NKX2-1 NOTCH2 NR3C1 OBSL1 PCNT PLOD3 POP1 PTCH1 RMRP SLC17A5 SOST STUB1 TBC1D2B TP53 TRIM37 TSHB USP48 USP8 VPS33A ZSWIM6 HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY ATXN1 CHCHD10 DNAJC3 EGR2 FLVCR1 FXN GDAP1 HPDL KIF1A LIG3 MFN2 MPZ MTRFR NGLY1 NOTCH2NLC PMP22 POLG PRX PTRH2 RETREG1 RRM2B SACS SCN9A SLC12A6 SPTLC1 TYMP WNK1 YARS1 YME1L1 HP_ABNORMAL_SEPTUM_PELLUCIDUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEPTUM_PELLUCIDUM_MORPHOLOGY ALG12 APC2 ARNT2 B3GALNT2 B4GAT1 BANF1 CDC42BPB CDON CILK1 CNOT1 COL18A1 COL4A1 COX7B CPLX1 CRPPA CSGALNACT1 CSPP1 CTBP1 DAG1 DHCR24 DISP1 DLL1 DYNC1I2 EHMT1 EZH2 FANCI FGF8 FGFR1 FGFR2 FGFRL1 FKRP FKTN FOXA2 FOXH1 GAS1 GLI2 GPR161 HCCS HESX1 HYLS1 IDH1 KIAA0586 KIF7 KRAS L1CAM LARGE1 LETM1 LHX4 LRRC32 MAPK1 MAPKAPK5 MBTPS2 MED25 MITF MUSK NDUFB11 NFIX NKX2-1 NODAL NSD1 NSD2 OTX2 PACS1 PAFAH1B1 PCGF2 PIEZO2 PIGA PIK3CA PLCH1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPP1R12A PPP1R21 PPP2R5D PROKR2 PROP1 PTCH1 PTDSS1 RAB5IF RBM8A RNF125 ROBO1 RSPO2 RXYLT1 SETD2 SHH SIX3 SMG8 SOX2 SOX3 SSR4 STAG2 STIL STT3A TAF1 TDGF1 TGIF1 TUBB2B WDR11 WNT3 ZIC2 ZSWIM6 HP_ABNORMAL_SERUM_BICARBONATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_BICARBONATE_CONCENTRATION CPT2 KCNJ10 SLC26A3 SLC4A4 WNK1 HP_ABNORMAL_SERUM_BILE_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_BILE_ACID_CONCENTRATION ABCB11 ABCB4 ABCD3 AKR1D1 AMACR AP1B1 ATP8B1 CCDC47 DNAJC21 DZIP1L EFL1 KIF12 MYO5B NR1H4 PKHD1 SBDS SEMA7A SLC10A1 SLC25A13 SLC2A2 SLC51B SRP54 TALDO1 TJP2 UNC45A VPS33B VPS50 HP_ABNORMAL_SERUM_ESTRADIOL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_ESTRADIOL AKT1 AR BAP1 BMP15 BNC1 CDKN2A CTDP1 CTNNB1 CYB5A CYP17A1 DCAF17 DHH DHX37 DMRT3 ESR1 ESR2 FEZF1 FOXL2 FSHB FSHR GATA4 GDF9 GNRH1 KISS1 LARS2 LEP LEPR MAP3K1 MCM9 MRPS22 MSH4 NDNF NF2 NR0B1 NR5A1 NUP107 PDGFB PIK3CA POLR3A POLR3H POR PRKAR1A PSMC3IP SEMA3A SMARCB1 SMARCE1 SMO SOHLH1 SOX9 SPIDR SRY STAG3 SUFU TERT TP53 TP63 TRAF7 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZNRF3 ZSWIM7 HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL ADAT3 AIP ALG12 CTSK DCAF17 GALT GH1 GHR GHRHR GHSR GPR101 IGF1 IGF1R IGFALS KIAA0753 MCTP2 MED12 MEN1 MPDU1 NFKB2 PDE11A PGM1 PRKAR1A RBM28 ROBO1 SIK3 SMPD1 SOX3 STAT5B HP_ABNORMAL_SERUM_IRON_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_IRON_CONCENTRATION BCS1L BMP2 CARD9 COL7A1 CP FOXP1 FTH1 FTL HAMP HFE HJV KIF23 PIGA PKLR RACGAP1 SKIC2 SKIC3 SLC11A2 STEAP3 TFR2 TRNT1 HP_ABNORMAL_SEX_DETERMINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEX_DETERMINATION AKR1C2 AKR1C4 CBX2 CILK1 CYB5A CYP11A1 CYP17A1 DHH DHX37 DMRT3 GATA4 MAP3K1 NR0B1 NR5A1 RSPO1 SOX9 SRY VAMP7 WNT4 WT1 WWOX ZFPM2 HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE AGO1 ANKRD17 BRCA1 BRCA2 BRF1 BRIP1 CCDC47 CHD1 CLCN3 DNM1 EHMT1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXL2 GON7 HERC2 HNRNPH2 IFT74 KAT5 KATNB1 KIF15 KMT2C LMX1B MAD2L2 MAGEL2 MAPK1 MKRN3 NDN NPAP1 NSD2 NSDHL OCA2 PALB2 PHIP PMM2 PUF60 PWAR1 PWRN1 RAD51 RAD51C RFWD3 RNF2 SIM1 SLX4 SNORD115-1 SNORD116-1 SNRPN STXBP1 SYT1 UBE2A UBE2T XRCC2 HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY ALPL ANKH ANKRD55 AP2S1 ATP7A ATP7B CD247 CDC73 CLCNKB DMP1 ENPP1 FXYD2 GCM2 GNA11 HLA-B HYAL1 IL2RA IL2RB KCNJ1 LMNA MEFV MEN1 NOTCH3 PDGFRB PHEX PTPN2 PTPN22 SLC12A1 SLC12A3 STAT4 TNFRSF11B TNFRSF1A WRN HP_ABNORMAL_SHOULDER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_MORPHOLOGY ABCC6 AEBP1 ANKRD55 ARF1 ARFGEF2 ATP7A B3GAT3 BAZ1B BCL7B BCOR BUD23 CBFB CCN6 CD247 CHD7 CHRNG CHST3 CLIP2 COL12A1 COL1A1 COL1A2 COL5A1 COL5A2 CUL4B DLK1 DNAJC30 DYM EFNB1 EIF4H ELN ENPP1 ERMARD EYA1 FIG4 FKBP6 FLNA GABRA3 GDF3 GDF6 GNB2 GSC GTF2I GTF2IRD1 GTF2IRD2 HHAT HSPG2 IL2RA IL2RB IRX5 JAG2 KY LGI4 LIMK1 LMBRD2 LMNA LMX1B LYSET MAP1B MEG3 MEOX1 METTL27 MLXIPL MYH3 MYL11 NAA10 NCF1 NEDD4L NGLY1 ORC1 OTUD6B PAX1 PIEZO2 PPP1R15B PRNP PTCH1 PTPN2 PTPN22 RBM8A RFC2 RNU4ATAC RTL1 RUNX2 SALL4 SCARF2 SCN4A SPRTN STAT4 STX1A TBL2 TBX5 TMEM270 TMTC3 TNNT1 TRAPPC2 TRMT10A TRPV4 VPS37D HP_ABNORMAL_SHOULDER_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_PHYSIOLOGY COMP ECEL1 FBN1 GNE GNPTAB HGD LMNA PKDCC RECQL4 SGCA TPM2 TRAPPC2 ZC4H2 ZMPSTE24 HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND AKT1 BAP1 BRAF CDH23 COG2 CTNNB1 FGF8 GHSR GNB2 HS6ST1 KIAA0753 MAGEL2 MAST3 MED12 NDE1 NF2 NFKB2 PDGFB PIK3CA RBM28 SIM1 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 VSX1 HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT AXIN2 BCOR EDA EDARADD FGFR1 IFIH1 IRF6 LRP6 MSX1 PAX9 SMOC2 SUMO1 TGFA TONSL WNT10A WNT10B HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES ACTB ACTG1 ADNP AFF3 ALDH1A3 ALG14 ALX4 ANK1 ANKRD11 AP3B2 ARID2 ARX ATP6V1A ATP6V1E1 ATR AUTS2 B3GLCT B9D2 BAZ1B BCL11B BCL7B BCOR BCR BICRA BMP1 BPTF BRAF BRCA1 BRCA2 BRIP1 BRPF1 BUB1 BUD23 CACNA1G CAMK2G CCNK CDC42BPB CDK13 CEP152 CEP55 CEP57 CHD4 CHN1 CLIP2 CLP1 CLTCL1 COG7 COL25A1 COLEC10 COLEC11 CREBBP CRKL CUL4B CUX1 DACT1 DCHS1 DDB1 DDR2 DDX3X DDX6 DGCR2 DGCR6 DGCR8 DLK1 DNAJC30 DNM1 DNMT3A DOCK6 DONSON DPH5 DVL1 DVL3 EBP EDEM3 EFEMP2 EIF4H EIF5A ELN EP300 ERCC1 ERCC4 ERCC6 ERMARD ESS2 EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO28 FIBP FKBP6 FOXG1 FOXL2 FOXP1 FOXP2 FRA10AC1 FTSJ1 FZD2 GABRA3 GATAD2B GJA1 GJA5 GJA8 GNB2 GPC6 GPKOW GTF2I GTF2IRD1 GTF2IRD2 H4C5 HDAC4 HHAT HNRNPH1 HNRNPH2 HNRNPK HNRNPR HSPG2 HUWE1 INPPL1 INTS1 IPO8 IRX5 KANSL1 KAT6B KCNJ2 KCNJ5 KCTD1 KDM4B KDM6A KIF15 KIF26A KMT2A KMT2D KPTN KRAS LARP7 LIFR LIG4 LIMK1 LMBRD2 LMNA LMNB1 MAD2L2 MADD MAFB MAGEL2 MAP2K1 MAP2K2 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MASP1 MCTP2 MECP2 MED12 MED13 MEG3 METTL27 MLXIPL MOGS MUSK MYCN MYH3 MYL11 NCF1 NFIB NSUN2 NUAK2 NXN ODC1 ORC1 OTUD6B PALB2 PAX3 PCGF2 PCLO PCNT PDE4D PGAP2 PGAP3 PGM3 PHF6 PIEZO2 PIGL PIGO PIGV PIGW PIGY PIK3R2 POLA1 POLR1A POLR3A PPP1R12A PRIM1 PRKAR1B PRMT7 PRR12 PUF60 PURA PYCR1 RAB18 RAC1 RAD51 RAD51C RBM10 RBMX RBPJ RECQL4 RERE RFC2 RFWD3 RFX7 RHOA RIPK4 RNU4ATAC ROR2 RPL10 RTL1 SALL1 SALL4 SCARF2 SEPTIN9 SETBP1 SETD2 SETD5 SF3B2 SIN3A SLC25A24 SLC2A10 SLC6A17 SLX4 SMAD4 SMARCA2 SMC5 SMO SMOC1 SMPD4 SNX14 SOX11 SOX6 SOX9 SPEN SPOP SPTBN1 SRCAP STAC3 STRA6 STT3A STX1A TBC1D2B TBL1XR1 TBL2 TBX1 TBX15 TENM3 TGFB3 THOC6 TLK2 TMEM107 TMEM270 TP63 TRIP12 TRMT1 TUBB TXNL4A UBE2T UBE3B UGDH USP9X VPS37D WAC WARS1 WDR35 WNT5A XRCC2 ZBTB18 ZFHX4 ZMPSTE24 ZMYM2 ZNF148 HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 ACVRL1 ADAMTSL1 ADNP AFF3 AIP AKT1 ALDH6A1 ALOX12B ALOXE3 ANKRD1 ANKRD11 AP1B1 APC AQP5 ARID1B ARL3 ASXL1 ASXL2 ASXL3 ATP2A2 ATP6V0A2 ATP6V1B2 ATR AUTS2 B3GLCT B4GALT7 BAG3 BAG5 BCOR BHLHA9 BICD2 BMP4 BMPR1B BRAF BRD4 BRF1 C1R CAP2 CARD14 CAST CCBE1 CCNQ CD28 CD4 CD96 CDC42BPB CDK10 CDK19 CDSN CEP55 CEP57 CERS3 CFTR CHD7 CHST14 CHST3 CIB1 CILK1 CKAP2L CLCN7 COG1 COG6 COL14A1 COL17A1 COL7A1 COX14 COX7B CPLX1 CREBBP CRYAB CSGALNACT1 CSNK2A1 CSRP3 CST6 CSTA CTBP1 CTC1 CTCF CTLA4 CTSB CTSC CYP4F22 DDX11 DES DHX30 DIS3L2 DKC1 DLK1 DLX4 DMD DOCK6 DOK7 DOLK DPAGT1 DPH1 DPH2 DPYD DSC2 DSE DSG1 DSG2 DSP DST EHMT1 ENPP1 EP300 ESCO2 EXT1 EXTL3 EZH2 FBXO28 FERMT1 FGD1 FGF9 FGFR2 FGFR3 FGFRL1 FHL2 FIG4 FKTN FLG FLNA FOXP1 G6PC3 GATA1 GATAD1 GDF5 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLE1 GLYCTK GMPPA GNB2 GPR101 GPR35 GRHL2 GRIN1 H3-3A H4C9 HAND2 HCCS HDAC4 HDAC8 HNRNPK HPGD HRAS IFT122 IFT43 IFT57 IGF1 ITCH ITGB4 IVNS1ABP JARID2 JPH2 JUP KANK2 KAT6B KATNB1 KCNH1 KCNK9 KCNMA1 KCNN3 KDF1 KDM4B KDSR KIF21A KLHL24 KLLN KMT2D KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LBR LDB3 LETM1 LIFR LMNA LMOD2 LMX1B LONP1 LORICRIN LSS LTBP1 LTBP4 LZTR1 MAP1B MAP2K1 MAP2K2 MAP3K7 MBTPS2 MCOLN1 MCTP2 MED12 MED25 MEF2C MEG3 MEGF8 MMP1 MRAS MSL3 MST1 MT-TS1 MTFMT MTOR MTX2 MUSK MYBPC3 MYH3 MYH6 MYH7 MYOD1 MYPN NAA10 NAA20 NALCN NBAS NDUFB11 NECTIN1 NECTIN4 NEXMIF NEXN NGLY1 NHP2 NIPAL4 NIPBL NLRP1 NOG NOP10 NPM1 NSD2 NSDHL NUP107 NUP188 NUP88 NXN OTUD5 PACS1 PARN PDGFRB PDHA1 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM2L1 PIEZO2 PIGL PIGS PIK3CA PKDCC PKP1 PLAA PLEC PLN PLOD1 PLOD3 PNPLA1 PNPLA6 POFUT1 POGLUT1 POLRMT POMP PORCN PPCS PPP2CA PPP2R3C PPP3CA PRDM16 PRR12 PSEN1 PSEN2 PSENEN PTCH1 PTCH2 PTEN PTPRF PUF60 RAB11B RAD21 RAF1 RAPSN RBM10 RBM20 RHBDF2 RIN2 RIPK4 RIT1 RNU4ATAC ROR2 RPL10 RPL3L RPS23 RPS6KA3 RSPO1 RTEL1 RTL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEMA4D SEPSECS SERPINA12 SERPINB7 SET SETBP1 SGCD SHOC2 SLC18A3 SLC25A12 SLC25A24 SLC39A13 SLCO2A1 SLURP1 SMAD2 SMARCA2 SMARCAD1 SMC1A SMC3 SMC5 SMOC1 SMPD4 SMS SNAP29 SOX18 SPECC1L SPRED2 SPRTN SPTBN1 SRD5A3 STAG1 STS STXBP1 SUFU SULT2B1 TAF1A TAF6 TAFAZZIN TASP1 TAT TBL1XR1 TBX4 TCAP TCF12 TCF4 TELO2 TERC TERT TFAP2A TGDS TGM1 TGM5 THOC2 TINF2 TMEM147 TMPO TNFRSF1B TNNC1 TNNI2 TNNI3 TNNT2 TNNT3 TOE1 TP63 TPM1 TPM2 TRAPPC11 TRIM37 TRIM8 TRIO TRPM4 TRPS1 TRPV3 TSEN15 TSEN2 TSEN34 TSEN54 TTN TUBA1A TWIST1 TXNRD2 TYMS UBE3B UBR1 UBR7 UFC1 USB1 USF3 VAC14 VCL VEZF1 VPS13B VPS33A VPS33B VPS51 WAC WDR37 WNT10A WRAP53 XYLT1 YY1 ZC4H2 ZMYM2 ZNF292 ZNF462 ZNF469 HP_ABNORMAL_SKULL_BASE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SKULL_BASE_MORPHOLOGY ABAT ABCC9 ACADVL ACP5 AFF3 ALDH18A1 ALDH7A1 ALG3 ALX4 AMER1 ANKH AP1S2 APC2 ARID1A ARID1B ARID2 ARMC9 ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B3GALT6 B4GALT1 B4GAT1 B9D1 B9D2 BANF1 BCOR BLTP1 BRF1 BUB1 BUB1B BUB3 C2CD3 CAMSAP1 CC2D2A CCDC22 CDC42 CDH2 CDKN1C CEP120 CEP290 CEP57 CHD7 CLP1 CNOT3 COG1 COL1A1 COL1A2 COL4A1 CPLANE1 CPT2 CREBBP CRPPA CSF1R CSPP1 CTU2 DAG1 DDX3X DENND5A DHCR7 DKK1 DLK1 DOK7 DPF2 DPH1 DPH2 DPH5 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP EDEM3 EP300 ERCC5 ESCO2 EVC EVC2 EXOSC8 FAR1 FBXO28 FGFR1 FGFR2 FKRP FKTN FLNA FLNB FLVCR2 FOXC1 FTO GDF6 GJB2 GJB6 GLI3 GNAS GPC3 GPC4 GTPBP2 HRAS HYLS1 IFT80 IGF2 IL6ST KATNB1 KCNQ1 KCNQ1OT1 KIAA0586 KIF21A KIF5A KIF7 KRAS LARGE1 LBR MAB21L1 MAN2B1 MAP3K7 MAPKAPK5 MBD5 MEG3 MID1 MKS1 MRE11 MSX2 MTM1 MUSK MYF5 MYOD1 NDUFC2 NEK8 NOTCH2 NOTCH3 NPHP3 NRAS NSD1 NUP88 OFD1 OPHN1 PACS2 PDGFRB PGAP2 PHGDH PIEZO2 PIGN PIGU PITX1 PLCH1 PLG PLPBP PMM2 PMPCA POGZ POLR2A POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1CB PRX PTDSS1 PTH1R PUF60 RAB18 RAC1 RAPSN RFT1 RNF113A RNU12 RPGRIP1 RPGRIP1L RTL1 RXYLT1 SEMA3E SETBP1 SETD2 SH2B1 SH3PXD2B SIK3 SIX2 SLC18A3 SLC31A1 SLC35A2 SLC4A2 SLC5A6 SLF2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SNORD118 SOX11 SOX3 SOX4 SUFU TAF8 TBC1D24 TBX15 TCTN1 TCTN2 TCTN3 TGFB1 TIMMDC1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM53 TMEM67 TNFRSF11A TRIP13 TUBA1A TUBB TUBB2A TXNDC15 USP9X VPS35L VPS51 VRK1 VSX1 WASHC5 WDR35 WDR73 WDR81 ZBTB20 ZEB2 ZIC1 ZSWIM6 HP_ABNORMAL_SMALL_INTESTINAL_MUCOSA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SMALL_INTESTINAL_MUCOSA_MORPHOLOGY ADAM17 ALG3 ALG9 CIITA DEF6 DGAT1 EPCAM FOXP3 IL2RA LCT LRBA MCM6 MPI MYO5B NLRC4 PCSK1 PERCC1 PMM2 RFX5 RFXANK RFXAP SAR1B SKIC2 SKIC3 SPINK5 STAT1 STX3 SYK TOM1 UNC45A WNT2B HP_ABNORMAL_SMALL_INTESTINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SMALL_INTESTINE_MORPHOLOGY ABCB11 ACOX2 ACTG2 ADAM17 ADAMTS3 AKR1D1 ALDH18A1 ALG1 ALG3 ALG6 ALG8 ALG9 AMACR ANTXR2 AP1S1 APOB ARID1B ATP8B1 BICRA BLNK BMPR1A BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CAMK2A CARD8 CCBE1 CCDC47 CD55 CDC45 CDKN1A CDKN1B CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CENPF CEP57 CFAP45 CFTR CHD7 CHST14 CIITA CLCA4 CLMP COG8 COX4I2 CPLX1 CTBP1 CTRC CXCR4 CYP7B1 DCTN4 DEF6 DGAT1 DIS3L2 DISP1 DLL1 DNAJC21 DSE DYRK1A DZIP1L EDNRA EFEMP2 EFL1 ELN EP300 EPCAM ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN2 FCGR2A FGF8 FGFR1 FGFRL1 FLI1 FLNA FOCAD FOXF1 FOXH1 FOXP3 FRAS1 GAS1 GATA1 GCLC GLI2 GMPPB GPC3 GPC4 GPR35 GSTM3 GTF2H5 HFE HLA-DQA1 HLA-DQB1 HMOX1 HSD3B7 IGHG2 IGKC IL12A IL12RB1 IL2RA IPO8 IRF5 IVNS1ABP KAT6B KCNN4 KDM3B LBR LCT LETM1 LIPA LRBA LTBP1 MAD2L2 MCM6 MED12 MEN1 MIF MIR17HG MLXIPL MMEL1 MPI MST1 MTTP MYCN MYH11 MYO5B NLRC4 NODAL NSD2 ODC1 PALB2 PCSK1 PERCC1 PET117 PEX12 PI4KA PIGN PIK3C2A PKHD1 PLA2G4A PLG PLVAP PMM2 PNLIP PORCN POU2AF1 PPP1R12A PRSS1 PRSS2 PTCH1 PTEN PTF1A PTRH2 RAD21 RAD51 RAD51C RARB RBM10 RBM8A RELA RERE RFWD3 RFX5 RFX6 RFXANK RFXAP RTTN SALL1 SAR1B SATB2 SBDS SEMA4D SERPINA1 SHH SHPK SIX3 SKIC2 SKIC3 SLC10A2 SLC11A1 SLC25A12 SLC26A9 SLC51B SLC6A14 SLC7A7 SLC9A3 SLX4 SOCS1 SPIB SPINK1 SPINK5 SRCAP SRP54 STAG2 STAT1 STAT3 STAT5B STRA6 STX1A STX3 SUFU SYK TBC1D7 TCF4 TDGF1 TGFB1 TGIF1 TJP2 TNFAIP3 TNFSF15 TNPO3 TOM1 TRIP13 TTC7A UBE2T UNC45A WAC WBP11 WNT2B WNT4 WNT7B XRCC2 XYLT2 ZIC2 ZIC3 ZNF699 HP_ABNORMAL_SOCIAL_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOCIAL_BEHAVIOR AARS1 ABCA7 ABCC8 ACOX1 ADNP ADSL ALG11 AMPD2 AP2M1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APP ARSA ATP10A ATRX BAZ1B BCL7B BUD23 C12orf4 CACNA1G CACNA1H CAMTA1 CARS1 CCNK CDC40 CDKL5 CHAMP1 CHD2 CHMP1A CIT CLIP2 CLTC CNTNAP2 COG6 CREBBP CSF1R CTNNA2 DDX59 DLK1 DNAJC30 DNAJC6 DPYD DYRK1A EBP EIF4H ELN EP300 ERCC2 ERCC3 EXTL3 FKBP6 FMR1 FOXG1 FOXP2 GABBR2 GABRA1 GABRB3 GABRG2 GATAD2B GFM2 GLI3 GRIK2 GRIN1 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HERC1 HSD17B10 HTRA2 IFNG IQSEC2 ITPR1 JRK KANSL1 LCA5 LIMK1 LINGO1 LNPK LRAT LRRK2 MAN2C1 MAPT MBD5 MECP2 MED12 MED13L MEG3 METTL27 MLXIPL MPLKIP NCF1 NEXMIF NF1 NLGN1 NONO NOVA2 NTNG1 NTNG2 OCA2 OPHN1 PARK7 PCDH19 PDE2A PGAP1 PIGH PIGS PINK1 PLA2G6 PODXL POGZ POLA1 POU4F1 PPIL1 PRKN PSAP PSEN1 PSEN2 PUS3 RFC2 RLIM RNF113A RPE65 RTL1 SCN1A SETBP1 SETD2 SH2B1 SHANK3 SLC2A1 SLC6A1 SLC6A17 SLC6A8 SLC9A6 SMARCA2 SMC1A SNCA SNRPN SNX14 SORL1 SPATA7 SPTBN1 STX1A SYNGAP1 SYNJ1 TARS1 TBC1D2B TBL2 TBR1 TELO2 TET3 TMEM270 TMTC3 TOMM40 TREM2 TRIM8 TSC1 TSC2 TTC19 TUBB3 UBE3A UCHL1 VPS13C VPS37D WARS2 WDR4 WLS ZMYND11 HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY ADA2 AEBP1 ALG3 ALG9 AMER1 AMMECR1 ARHGAP29 ARHGEF38 ASPH ATP6V1B2 B3GALNT2 B4GALT7 B4GAT1 B9D2 BCOR BGN BICRA BIN1 BMP4 BRCA1 BRCA2 BRIP1 BUB1 CDC45 CDC6 CDH1 CDH11 CDON CDT1 CHD4 CHD7 COBLL1 COL11A1 COL11A2 COL2A1 COL4A1 CRPPA CUL3 DAG1 DDX3X DDX59 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DISP1 DLG1 DLG3 DLK1 DLL1 DLX4 DVL1 DYRK1A EDN1 EIF4A3 ERCC4 ESS2 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO11 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FKBP14 FKRP FKTN FLNA FOXH1 FTO GAS1 GATA1 GJA5 GJA8 GLI2 GLI3 GMNN GNAI3 GNB2 GRHL3 H4C5 HAAO HEATR3 HNRNPK HYAL1 HYLS1 IFT140 IGBP1 IPO8 IRF6 KAT6B KCNH1 KCNK9 KCNMA1 KCNN3 KCTD1 KDM6B KIF14 KIF7 KMT2C KMT2D LARGE1 MAD2L2 MAP3K7 MED12 MEG3 METTL23 MSX1 MSX2 MYL11 MYMX NECTIN1 NEK1 NODAL NONO NXN ORC1 ORC4 ORC6 PALB2 PDGFRA PGAP1 PGAP2 PGAP3 PGM1 PI4KA PIEZO2 PIGL PIGO PIGV PIGW PIGY PLCB4 PLCH1 POGZ POLA1 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PRR12 PTCH1 PTDSS1 RAD21 RAD51 RAD51C RAI1 RECQL4 RFWD3 RFX7 RIC1 RLIM RNU4ATAC ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTL1 RXYLT1 RYR1 SATB2 SCNM1 SEC23A SELENOI SEMA3E SERPING1 SETD5 SF3B4 SHH SHMT2 SIAH1 SIX1 SIX3 SKIC3 SLC25A19 SLC2A10 SLC39A13 SLX4 SMAD3 SMAD4 SMARCD1 SMC1A SMCHD1 SMPD4 SMS SNRPB SNRPN SON SPEG SPTBN1 STAC3 STAG2 STIL SUPT16H TBCE TBX1 TBX22 TCOF1 TCTN3 TDGF1 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC6 TMEM231 TP63 TSR2 TTN TUBB6 TWIST1 TWIST2 TXNL4A UBB UBE2T USP9X WDR35 XRCC2 XYLT1 ZEB2 ZIC2 ZPR1 HP_ABNORMAL_SPACED_INCISORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPACED_INCISORS ABCC9 ALX3 ANKRD11 ATRX CHSY1 DNMT3A DOCK7 FREM1 GATAD2B HMGB3 HRAS RNF2 STAG1 TUBGCP2 HP_ABNORMAL_SPERM_AXONEME_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_AXONEME_MORPHOLOGY AK7 CATIP CFAP91 FSIP2 QRICH2 SPEF2 USP26 WDR19 HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY ACTL9 ARMC2 AURKC BRDT C2CD6 CATIP CATSPER2 CCDC62 CEP112 CFAP69 CFAP70 CFAP91 CT55 DNAH17 DPY19L2 FBXO43 GBA2 GGN IQCN PMFBP1 SPATA16 STRC SUN5 TEKT3 TSGA10 TTC29 USP26 ZPBP HP_ABNORMAL_SPERM_MOTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_MOTILITY AK7 AKAP3 ALG5 ALG9 ARL2BP ARMC2 BICC1 BRDT CATIP CATSPER1 CATSPER2 CCDC103 CCDC34 CCDC39 CCDC40 CCDC65 CCNO CDC14A CEP112 CFAP221 CFAP251 CFAP298 CFAP300 CFAP410 CFAP43 CFAP45 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CT55 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAL1 DNALI1 DNHD1 DRC1 DZIP1 FBXO43 FOXJ1 FSIP2 GANAB GAS2L2 GAS8 GBA2 HNF1B HYDIN IFT140 IFT74 KCNU1 KLHL10 LRRC56 MCIDAS NEK10 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PDE11A PDHA2 PKD1 PKD2 PMFBP1 PRKAR1A RPGR RPL10L RSPH1 RSPH3 RSPH4A RSPH9 SEPTIN12 SLC26A8 SPAG1 SPAG17 SPEF2 SPINK2 SSX1 STK36 STRC SUN5 TEKT3 TTC12 TTC21A TTC29 USP26 WDR19 ZMYND10 HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY AK7 AKAP3 ARMC2 AURKC CATIP CATSPER2 CCDC34 CFAP251 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 CT55 DNAH1 DNAH10 DNAH17 DNAH2 DNAH7 DNAH8 DNALI1 DNHD1 DRC1 DZIP1 FKBP6 FSIP2 IFT74 KCNU1 QRICH2 SPEF2 SSX1 STRC TTC21A TTC29 USP26 WDR19 HP_ABNORMAL_SPINAL_CORD_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPINAL_CORD_MORPHOLOGY ABCA1 ABCD1 ACTA2 ACTB ACVRL1 ACY1 AKT1 ALDH18A1 AMER1 APC ARID1B ARPC4 ARSB ARSL ARVCF ATP6V1B2 ATXN1 ATXN2 ATXN3 B2M B3GALT6 B3GLCT B4GAT1 BAZ1B BCL7B BICD2 BMP2 BMS1 BRAF BRCA1 BRCA2 BRIP1 BTD BUD23 CCBE1 CCL2 CCM2 CCND1 CCNQ CCT5 CDK13 CHN1 CHRNG CLIP2 CLP1 COG4 COL18A1 COL2A1 COLEC10 COLEC11 COMP COMT COQ6 CPLX1 CREBBP CTBP1 CTNNB1 CUL7 CYP27A1 CYP7B1 DACT1 DARS1 DARS2 DDHD2 DDR2 DKK1 DLK1 DLL3 DLL4 DNA2 DNAJC3 DNAJC30 EIF4H ELN ENG EP300 ERCC4 EXT1 EXT2 EXTL3 FA2H FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FBLN1 FBN1 FGFRL1 FIBP FKBP6 FLI1 FLNA FLNB FLVCR1 FOXC2 FOXE1 FOXE3 FOXF1 FUZ FXN GALNS GCLC GDF3 GDF6 GFAP GJB1 GJB2 GLB1 GLRX5 GNAS GNPTAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 HAAO HABP2 HBB HES7 HEY2 HIRA HMGA2 HMX1 HNRNPH1 HNRNPK HRAS IDS IDUA IKBKG IL11RA IRF6 ITGB4 JMJD1C KANSL1 KCNH1 KDM1A KIF1B KIF22 KPNA3 KRIT1 LEMD3 LETM1 LFNG LIG4 LIMK1 LMNB1 LMX1B LOX LYST LZTR1 MAD2L2 MAFB MAN2B1 MAP3K7 MASP1 MAT2A MBTPS2 MEG3 MEOX1 MESP2 METTL27 MFAP5 MFN2 MINPP1 MLXIPL MMACHC MNX1 MORC2 MTHFD1 MTHFR MTR MTRR MYH11 MYH3 MYLK NAXE NCAPG2 NCF1 NEFL NEK9 NELFA NEPRO NF1 NF2 NFIA NFIX NMNAT1 NOTCH2 NOTCH2NLC NOTCH3 NRAS NSD2 NSUN2 PALB2 PAX3 PDCD10 PHEX PHGDH PI4KA PIGG PIK3CA PLEC PLP1 PNPLA6 POLA1 POLG PORCN PRKAR1B PRKG1 PRMT7 PRPS1 PSAT1 PTCH1 PTDSS1 PTPN11 PUF60 RAB23 RAD51 RAD51C RAF1 RAI1 RASA1 RBM8A RECQL4 RELA REPS1 RFC2 RFWD3 RIPPLY2 RMRP RNASEH1 RORA RPS19 RREB1 RRM2B RTL1 RTN2 RUNX2 SALL1 SALL4 SEC24C SETD2 SETX SH2B1 SLC25A19 SLC26A2 SLC33A1 SLX4 SMAD2 SMAD3 SMAD4 SMARCB1 SNRPB SOX9 SPARC SPG11 SPG7 STX1A SUPT16H TBC1D24 TBL2 TBX1 TBX6 TBXT TDP1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLR7 TMEM270 TNXB TRAF7 TRAPPC14 TRIM36 TRPV4 TWNK UBA2 UBAP1 UBE2T UFD1 VANGL1 VANGL2 VHL VPS37D WASHC5 WBP11 XRCC2 ZFTA ZIC1 ZMYM2 HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY ACTA2 ELN FBN1 FOXC2 FOXE3 HEY2 KANSL1 LOX MAT2A MFAP5 MYH11 MYLK NF1 NOTCH3 PRKG1 RASA1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 HP_ABNORMAL_SPUTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPUTUM ACTA2 ACVRL1 BTNL2 C4A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CCR1 CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP74 CFTR CLCA4 CLEC7A COL3A1 COL5A1 COL5A2 CTLA4 DCTN4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNASE1L3 DRC1 EDNRA EIF2AK4 ELN ENG ERAP1 F5 FAS FBN1 FCGR2A FOXE3 FOXJ1 GAS2L2 GAS8 GCLC GDF2 GIMAP5 GSTM3 HEY2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HYDIN IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R KCNN4 KLRC4 LOX LRRC56 MAT2A MCIDAS MEFV MFAP5 MIF MLX MYH11 MYLK NEK10 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PRKG1 PRTN3 PTPN22 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SCNN1A SCNN1B SCNN1G SERPINA1 SLC11A1 SLC26A9 SLC34A2 SLC6A14 SLC9A3 SMAD2 SMAD3 SMAD4 SPAG1 SPEF2 STAT4 STK36 STX1A TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLL1 TLR4 TRAF3IP2 TSC1 TSC2 TTC12 UBAC2 ZMYND10 HP_ABNORMAL_STERNAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNAL_OSSIFICATION CD96 CPLX1 CTBP1 FGFRL1 FIG4 LETM1 NFIX NSD2 ORC1 ORC6 SOX9 VAC14 HP_ABNORMAL_STERNUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNUM_MORPHOLOGY ABCC6 ABL1 ACP5 ACTA1 ACTA2 ACTB ADAMTSL2 ADGRG1 ADNP AEBP1 AGA AGRN AIFM1 AKT1 ALDH18A1 ALPL AMER1 ANAPC7 AP1G1 APC2 ARID1B ARID2 ARL3 ARSB ASAH1 ASH1L ASPH ASXL1 ATAD3A ATG7 ATP2B1 ATP6V0A2 ATP7A B3GALT6 B3GAT3 B3GLCT B4GALT7 BAZ1B BCL7B BCOR BCORL1 BGN BICD2 BICRA BMP1 BMP2 BRAF BRD4 BUB1B BUD23 CA2 CBL CBS CCBE1 CCDC47 CD96 CDC42 CDC42BPB CDH11 CEP120 CFL2 CHAT CHRM3 CHRNG CHST11 CHST14 CHST3 CLIP2 COG4 COL11A2 COL12A1 COL13A1 COL1A2 COL2A1 COL3A1 COL5A1 CPLX1 CREBBP CRTAP CSF1R CSGALNACT1 CTBP1 CTNS CUL7 CUX1 CYP27B1 CYP2R1 DACT1 DDR2 DHODH DICER1 DLK1 DNAJC30 DPF2 DSE DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EFEMP2 EFNB1 EIF4H ELMO2 ELN EMD EP300 ERF EVC EVC2 EXTL3 FAM149B1 FAM20C FARSB FBLN5 FBN1 FBN2 FGD1 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP6 FKTN FLNA FLNB FMR1 FN1 FOXE3 FRA10AC1 FRAS1 FZD2 G6PC3 GALNS GATA6 GBA1 GDF11 GJA5 GJA8 GLB1 GNB1 GNPTAB GNPTG GORAB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 HACD1 HBA1 HBA2 HDAC4 HDAC8 HES7 HEY2 HNRNPH1 HNRNPH2 HNRNPK HPGD HRAS HS2ST1 HSD17B4 HSPG2 HUWE1 HYOU1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IGBP1 IGF1R IHH IL6ST INPP5K INPPL1 INTS1 IPO8 IRX5 ITCH ITGA7 KANSL1 KAT6A KDELR2 KDM5C KDM6B KIAA0753 KIF7 KLHL41 KLLN KMT2A KRAS KRT5 LAMA5 LBR LETM1 LGI3 LIG4 LIMK1 LMBRD2 LMNA LMOD3 LMX1B LONP1 LOX LRP2 LRP4 LTBP1 LTBP2 LZTR1 MAF MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPRE2 MARS2 MAT2A MATN3 MBTPS1 MBTPS2 MECP2 MED12 MED25 MEG3 MEGF10 MEGF8 MET METTL27 MFAP5 MGAT2 MLXIPL MME MRAS MSTO1 MTX2 MYF5 MYH11 MYH3 MYL2 MYLK MYO9A MYOD1 MYPN NAA10 NALCN NARS1 NCF1 NEB NEK1 NEPRO NEU1 NF1 NFIX NHLRC2 NIPBL NKAP NKX3-2 NOG NOTCH2 NOTCH3 NPR3 NRAS NSD1 NSD2 NSUN2 NUP107 NXN OBSL1 ORC1 ORC6 OSGEP PACS1 PCGF2 PDHX PGAP2 PGAP3 PHEX PI4KA PIEZO1 PIEZO2 PIGL PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PLAA PLEKHM1 PLOD1 PLOD2 PLXND1 POLR2A PPIB PPP1CB PPP1R15B PPP1R21 PPP2R1A PQBP1 PRKG1 PRKG2 PROKR2 PRR12 PTCH1 PTEN PTF1A PTPN11 PUF60 PYCR1 PYCR2 PYROXD1 RAB33B RAB3GAP2 RAB5IF RAD21 RAF1 RASA2 RBM10 REST RET RFC2 RIN2 RIT1 RMRP RNF135 ROR2 RPS6KA3 RRAS RRAS2 RSPRY1 RTL1 SCARF2 SCN4A SDHB SDHC SDHD SEC23B SEC24D SELENON SETBP1 SETD2 SH3PXD2B SHOC2 SIK3 SIL1 SKI SLC12A2 SLC16A2 SLC18A3 SLC25A1 SLC2A10 SLC34A1 SLC34A3 SLC37A4 SLC5A7 SLC9A6 SMAD2 SMAD3 SMAD4 SMC1A SMC3 SMS SNAP25 SNX14 SOS1 SOS2 SOX10 SOX5 SOX9 SP7 SPECC1L SPRED1 SPRED2 SPRTN SRPX2 SRY STX1A SYNE1 SYNE2 SYT2 TAF1 TBCD TBCK TBL2 TBX3 TBX5 TBX6 TCTN3 TELO2 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMCO1 TMEM231 TMEM270 TMEM43 TMEM94 TNFRSF11A TNFRSF11B TNNT1 TOE1 TPM2 TPM3 TRIO TRIP11 TRIP4 TRMT10A TRPM3 TRPS1 TRPV4 TTC21B TUBB UBTF UCHL1 UPF3B USF3 VAC14 VAMP1 VDR VPS13B VPS33A VPS37A VPS37D WBP11 WDR11 WDR19 WDR35 WNT5A WNT7A XYLT1 XYLT2 ZBTB20 ZDHHC9 ZEB2 ZFPM2 ZMIZ1 ZNF668 HP_ABNORMAL_STOMACH_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOMACH_MORPHOLOGY AAGAB ABCC2 ACD ADAMTS2 ADAMTS3 ADAMTSL2 AIRE AKT1 ALDH18A1 APC ARF1 ARFGEF2 ARID1B ATAD1 ATP6V1E1 ATP7A AURKA AXIN2 BAP1 BAX BAZ1B BCL10 BCL7B BCOR BCR BIN1 BLM BMPR1A BRAF BRD4 BUB1 BUB1B BUB3 BUD23 C1R CAMTA1 CARD8 CASP10 CASZ1 CAVIN1 CBLIF CCBE1 CCND1 CDH1 CDK4 CDKN2A CDKN2B CEP57 CHEK2 CHST14 CISD2 CLIP2 COL14A1 COL18A1 COL1A1 COL5A1 COL5A2 CRKL CTLA4 CTNNB1 CYBA CYBB CYBC1 DCC DEF6 DHCR7 DHODH DLC1 DLK1 DNAJC30 DNM2 DYRK1A EFEMP2 EIF4H ELF4 ELN ENG EP300 ERBB2 ERMARD EXT2 FAS FASLG FAT4 FBLN5 FGFR2 FGFR3 FIG4 FKBP6 FLCN FLI1 FLNA FOCAD FOXP3 GABRD GBA1 GLIS3 GLRA1 GLRB GON7 GPHN GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HDAC8 HNF1B HRAS HSPG2 IFIH1 IGHG2 IGKC IL1B IL1RN IPO8 IRF1 ITGA6 ITGB4 KANSL1 KCNAB2 KIT KLF6 KRAS LAGE3 LAMA3 LAMB3 LAMC2 LBR LIMK1 LRBA LTBP1 LTBP4 LUZP1 MAP1B MAP3K7 MAPK1 MC1R MCC MDM2 MED12 MEG3 METTL27 MGMT MITF MLH1 MLH3 MLXIPL MMP23B MSH2 MSH3 MSH6 MTM1 MTMR14 MUTYH MYF6 MYH11 NAA10 NCF1 NCF2 NCF4 NEDD4L NEFH NEK9 NFIX NFKB1 NFKB2 NIPBL NPHS1 NRAS NUP107 NUP133 OSGEP OTC PAK2 PDE11A PDGFRA PDGFRL PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIK3CA PLA2G2A PLA2G4A PLEC PORCN POT1 PPP2R3C PPP2R5D PRDM16 PRKAR1A PRKCD PRKCZ PTCH1 PTPN12 PTPRJ PYCR1 RAD21 RAD54B RASGRP1 RERE RFC2 RIPK1 RNF43 RPS20 RTL1 RYR1 SDHA SDHB SDHC SEMA4A SERPINA1 SERPINH1 SH2B1 SKI SKIC2 SKIC3 SLC2A10 SLC6A5 SMAD4 SMC1A SMC3 SPEN SRC STK11 STS STX1A SYK SYT2 TBL2 TBX3 TCF4 TERF2IP TERT TFAP2A TGFB3 TLR2 TMEM270 TMTC3 TNXB TP53 TP53RK TPRKB TREX1 TRIP13 UBE4B VAC14 VPS37D WDR4 WDR73 WFS1 YRDC ZBTB7A ZEB2 ZNF699 HP_ABNORMAL_STOOL_COMPOSITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOOL_COMPOSITION ALAD BRCA1 BRCA2 CPOX CYP7B1 DCDC2 DEF6 EPCAM GATA1 HSD3B7 MYO5B PERCC1 PPOX PTPN3 RFX6 SLC10A2 SLC26A3 SLC9A3 UROD UROS HP_ABNORMAL_ST_SEGMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ST_SEGMENT ABCC9 ACTC1 AKAP9 CACNA1C CACNA2D1 CACNB2 CITED2 CLCNKB GATA4 GATA6 GPD1L GYG1 HCN4 KCND3 KCNE3 KCNE5 KCNJ8 MYH6 NKX2-5 PKP2 POLG PRKAG2 RAF1 RANGRF RYR1 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLC12A3 SLMAP TBX20 TLL1 TNNC1 TNNT2 TRPM4 HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY ACTA2 ACVRL1 AHCY AIFM1 ALDH7A1 ALG11 ALG12 ALG2 ALG9 ANGPTL6 APP ATP11A CD109 CDH2 CHD3 COL3A1 COX16 CUX1 DCC DNM1 DOCK8 DTYMK ELN ENG F10 FBN1 FOXE3 GAA GCDH GDF2 GP1BA GP1BB GRIN1 HEY2 IDH1 ITGA2 ITGA2B ITGB3 KIFBP L1CAM LMNB2 LOX MAN2C1 MAT2A MFAP5 MPDU1 MRE11 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTRR MYH11 MYLK NARS1 NMNAT1 PIGW PLCH1 PLPBP PRKG1 RASA1 RNU4ATAC SEPSECS SLC33A1 SMAD2 SMAD3 SMAD4 SNRPN STIM1 SYNGAP1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TSEN15 TSEN2 TSEN34 TSEN54 TTC26 WAC WARS2 HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY ACTA2 CREBBP DDX6 EP300 KNSTRN NKX2-6 PIK3CD PLD1 PLXND1 HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION AKT1 ATP6V0A2 ATP6V1A ATP6V1E1 PMM2 PTEN TBL1XR1 TGFB1 HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY ADH1C ATXN2 ATXN3 ATXN8OS FBXO7 FTL GBA1 GCH1 GLUD2 GTPBP2 IMPDH2 LRRK2 MAPT MT-TT NR4A2 PRKN SLC44A1 SNCA SNCAIP SPG11 TBCE TBP VPS41 WDR45 HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY AHI1 ARL3 CEP290 CLCN3 CSPP1 FLI1 INPP5E KIAA0586 LAMA1 NPHP1 TMEM216 TMEM67 HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY CDH3 EDA EPS8L3 HOXC13 IKBKG KDF1 KRT14 KRT71 KRT74 KRT85 LIPH LMNA LPAR6 MSX1 NFKBIA NTRK1 RPL21 SOX18 TBX3 TP63 ZMPSTE24 ZNF141 HP_ABNORMAL_SWEAT_HOMEOSTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_HOMEOSTASIS AGR2 CA12 CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA FCGR2A FUCA1 GCLC GSTM3 GUCY2C HFE HMOX1 KCNN4 MIF NEK10 PNLIP SCNN1A SCNN1B SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION ACAD9 ACADM ACTA1 AGRN AK9 ALG14 ALG2 ANG ANXA11 ATRX ATXN2 BRAF CACNA1S CASQ1 CASR CCNF CDH23 CFAP410 CFL2 CHAT CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE COA8 COL13A1 COLQ DAO DCTN1 DES DKK1 DOK7 DPAGT1 EPHA4 ERBB4 FIG4 FKRP FLNC FUS GFPT1 GIPC1 GLE1 GLT8D1 GMPPB GNA11 HACD1 HINT1 HNRNPA1 ITGA7 KBTBD13 KCNE3 KCNK9 KLHL41 LAMB2 LARGE1 LDB3 LMOD3 LPIN1 LRP12 LRP4 MAP3K20 MATR3 MINPP1 MT-CO1 MT-CO3 MTM1 MUSK MYL2 MYO9A MYPN NEB NEFH NEK1 NGLY1 NOTCH2NLC NR3C1 OBSCN OPTN ORAI1 PFN1 PLEC POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH RAPSN RILPL1 RNASEH1 RRM2B RYR1 SCN4A SELENON SLC18A3 SLC25A1 SLC34A2 SLC5A7 SNAP25 SOD1 SQSTM1 STIM1 SYNE1 SYT2 TAF15 TARDBP TBK1 TFG TOE1 TP53 TPM2 TPM3 TREM2 UBQLN2 UNC13A USP48 USP8 VAMP1 VAPB VCP HP_ABNORMAL_SYNOVIAL_MEMBRANE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYNOVIAL_MEMBRANE_MORPHOLOGY ANKRD55 BRAF CD247 F8 HYAL1 IL2RA IL2RB LPIN2 MAP2K1 NOD2 POLR3A PRG4 PTPN11 PTPN2 PTPN22 STAT4 TRAPPC2 HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY ABCA1 ABCC6 ABCD4 ABCG5 ABCG8 ABL1 ACTA2 ACVR2B ADA2 ADAMTS19 ADAMTSL1 ADAR ADK AEBP1 AFF4 AGXT ALDH18A1 ALDH1A2 ALG3 ALG5 ALG9 ALMS1 AMER1 ANAPC7 ANGPTL6 ANTXR1 APC2 APOA1 APOA2 APOA5 APOB APOE APP ARF1 ARFGEF2 ARL6IP6 ARVCF ASAH1 ATN1 ATP2B1 ATP6V1A ATP7A B3GALT6 B3GAT3 BANF1 BAZ1B BCL7B BCOR BCR BEST1 BGN BICC1 BMPR2 BRAF BRCA1 BRCA2 BRCC3 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12orf57 CARS1 CASZ1 CAT CDH2 CDK8 CDON CELA2A CEP19 CEP57 CETP CFAP53 CHD4 CHD7 CHRNG CHST3 CIROP CLIP2 COL1A1 COL1A2 COL3A1 COL4A1 COL5A1 COL5A2 COMT COX7B CPLANE1 CREBBP CRELD1 CRKL CSF2RA CSF2RB CTCF CTSA CYP1B1 CYP27A1 CYP7A1 DARS1 DCDC2 DDX3X DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DIS3L2 DISP1 DLK1 DLL1 DNAH1 DNAH9 DNAJB11 DNAJC30 DNMT3A DOHH DPH5 DYNC2LI1 DYRK1B EFEMP1 EFEMP2 EGFR EHMT1 EIF4H ELN EMILIN1 ENG ENPP1 EP300 EPHX2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESR1 ESS2 F12 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FBLN5 FBN1 FBN2 FGF8 FGFR1 FGFR2 FIG4 FKBP14 FKBP6 FLI1 FLNA FLNB FLT4 FMR1 FOXE3 FOXF1 FOXH1 FUCA1 FZD4 GAA GABRD GALC GANAB GAS1 GATA1 GATA4 GATA5 GATA6 GBA1 GDF1 GEMIN4 GGCX GHR GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GM2A GNA11 GNB2 GP1BB GPIHBP1 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 HCCS HDAC4 HEATR3 HES7 HEXA HEXB HEY2 HGD HIRA HLA-B HLA-DRB1 HNRNPK HOXA1 HRAS HSPG2 HTRA1 HYOU1 IDS IFIH1 IFNG IFT140 IGFBP7 IL12B IPO8 JAG1 JAK2 JMJD1C KANSL1 KCNAB2 KCNH1 KCNQ2 KCNT1 KDM6A KMT2D KNSTRN KRAS LARS2 LCAT LDLR LDLRAP1 LIMK1 LIPA LIPC LMNA LMX1B LOX LPL LRP5 LRP6 LRPPRC LSM11 LTBP1 LUZP1 LZTR1 MAD2L2 MAP1B MAP2K1 MAP3K7 MAPK1 MAT2A MAX MCTP2 MED12 MEF2A MEG3 MEIS2 METTL27 MFAP5 MID1 MKS1 MLX MLXIPL MMP14 MMP2 MMP21 MMP23B MPL MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MYCN MYH11 MYH3 MYH7 MYLK MYOC MYPN MYRF NADSYN1 NAE1 NCF1 NDE1 NDP NDUFB11 NEDD4L NEK1 NEK9 NEU1 NF1 NFIA NIPA1 NIPA2 NKAP NKX2-5 NKX2-6 NOD2 NODAL NOTCH1 NOTCH3 NPC1 NPC2 NPR3 NR2F2 NRAS NSD1 NSMCE2 NT5E NXN OSGEP P4HA2 PAH PALB2 PCGF2 PCNT PCSK9 PDE11A PDGFB PDGFRB PDPN PGM1 PGM3 PIGA PIGN PIK3CD PIK3CG PIK3R2 PKD1 PKD1L1 PKD2 PLCB1 PLD1 PLOD1 PLOD3 PLXND1 PNPLA2 POU3F4 PPARG PPFIBP1 PPP1CB PPP1R17 PPP2R1A PRDM16 PRKAR1A PRKCSH PRKCZ PRKG1 PRPF3 PSAP PTCH1 PTEN PTH1R PTPN11 PTPN22 PUF60 RAD51 RAD51C RAI1 RBM8A RERE RET RFC2 RFWD3 RIN2 RNASEH2A RNASEH2B RNASEH2C RNF213 RNU4ATAC RNU7-1 ROBO4 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RTL1 SAMHD1 SC5D SCN1A SCN2A SDHB SDHD SEC24C SELENOI SEMA3E SERPIND1 SETD2 SF3B2 SHH SIX3 SKI SLC12A5 SLC20A2 SLC25A22 SLC25A24 SLC2A10 SLC34A2 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCAL1 SMG9 SMPD1 SON SOS2 SPECC1L SPEN SPTBN1 SRCAP SRY STAG2 STAT1 STIL STRA6 STX1A SUCLG1 SUPT16H TAB2 TALDO1 TBC1D24 TBL2 TBX1 TBX20 TBX5 TDGF1 TELO2 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TGIF1 THPO THSD1 THSD4 TKT TMEM127 TMEM231 TMEM260 TMEM270 TMEM67 TMTC3 TNNT2 TNXB TOM1 TONSL TPM2 TPM3 TRAF7 TREX1 TRIP13 TRRAP TSC1 TSC2 TSR2 TTC26 TUBG1 TULP1 UBA1 UBE2T UBE3B UBE4B UFD1 UNC45B VAC14 VHL VPS37D WAC WDPCP WDR26 WRN WT1 XRCC2 XYLT1 XYLT2 YME1L1 YY1 YY1AP1 ZEB2 ZIC2 ZIC3 ZMPSTE24 ZNF148 ZNF687 HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE AAAS ABCA3 ABCB4 ABCB6 ABCC6 ABCD3 ABCG5 ABCG8 ACAT1 ACE ACP5 ACTA2 ACTG2 ACTN4 ACVRL1 ADA2 ADAMTSL4 ADD1 AGT AGTR1 AIP ALB ALG5 ALG9 ALMS1 ALX4 ANGPTL6 APOA1 APOB APRT ARHGAP31 ARL6 ARMC5 ARSA ARVCF ASXL1 ATP1B1 ATP7A ATRX AVPR2 B2M BANF1 BANK1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICC1 BLK BMP6 BMPR2 BNC2 BRAF BRCA2 BRCC3 BSCL2 BSND BTNL2 BUD23 C3 C4A C4B CACNA1D CACNA1H CALR CASR CAV1 CBL CBS CC2D2A CCDC28B CCN2 CCND1 CCR6 CD2AP CD46 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CELA2A CEP164 CEP19 CEP290 CEP83 CFAP418 CFB CFH CFHR1 CFHR3 CFI CHCHD2 CHRNA3 CIDEC CLCN2 CLCNKA CLCNKB CLDN1 CLIP2 COL1A1 COL3A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COMT COQ2 COQ7 CORIN CPOX CR2 CTLA4 CTNNB1 CUL3 CYB561 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP3A5 DAXX DBH DCDC2 DCTN1 DDC DEF6 DGUOK DHCR7 DIS3L2 DLL4 DLST DNAJB11 DNAJC13 DNAJC30 DNASE1 DNMT3A DOCK6 DST DYRK1B DZIP1L ECE1 EDA EDA2R EGFR EIF4G1 EIF4H ELN ELP1 ENG ENPP1 EOGT EPAS1 EPOR ERCC4 ERCC6 ERCC8 ETS1 EXOSC2 EXT2 F5 FARSB FBN1 FCGR2B FCGR3B FGA FGFR2 FH FIG4 FKBP6 FLT1 FMO3 FMR1 FN1 FOXA2 FOXE3 FUZ G6PC1 GANAB GATA5 GBA1 GBE1 GCH1 GDF2 GEMIN4 GIGYF2 GIMAP5 GLA GLI2 GLIS3 GMPPA GNA11 GNAS GNB2 GNB3 GP1BB GPC3 GPR101 GPR35 GSN GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 H19 H4C3 HADHB HBB HELLPAR HESX1 HEXB HEY2 HFE HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HMOX1 HNRNPK HPSE2 HSD11B2 HSD3B2 HTRA1 IDS IDUA IFIH1 IFNG IFT140 IFT172 IFT27 IFT74 IGHG1 IL10 IL12A IL12B IL12RB1 IMPDH2 INF2 INPP5E INVS IQCB1 IRAK1 IRF4 IRF5 ITCH ITGA8 ITGAM JAK2 JAZF1 JMJD1C KCNJ1 KCNJ10 KCNJ5 KCTD1 KIAA0319L KIF12 KIF1B KIT KLHL3 KRT18 KYNU LAMB2 LARS2 LBX1 LDLR LDLRAP1 LEMD3 LEP LEPR LHX4 LIMK1 LIPA LIPE LMNA LMNB1 LMX1B LOX LRIG2 LRP6 LRPPRC LRRK2 LYZ LZTFL1 MAFB MAT2A MAX MBTPS2 MC2R MC4R MDH2 MDM2 MECP2 MED12 MEF2A MEN1 METTL27 MFAP5 MGP MKKS MKS1 MLX MLXIPL MMEL1 MMP14 MMP2 MPI MPL MRAP MST1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTRR MUC1 MYH11 MYLK MYMK MYMX NAF1 NCF1 NDUFAF6 NEUROG3 NF1 NFIX NFKB2 NKX2-5 NNT NOD2 NOS3 NOTCH1 NOTCH2 NOTCH3 NPHP1 NPHP3 NPHP4 NR3C1 NR3C2 NR4A2 NSMCE2 NTRK1 OFD1 OSGEP OTX2 PAM16 PAX2 PBX1 PCSK9 PDCD1 PDE11A PDE3A PDE4D PHF21A PIGA PIGM PKD1 PKD2 PKHD1 PLIN1 POR POU1F1 POU2AF1 POU3F4 POU6F2 PPARG PPOX PRIM1 PRKACA PRKAG2 PRKAR1A PRKG1 PROP1 PRTN3 PSAP PTGIS PTPN22 PXK RBPJ REN REST RET RFC2 RGS5 RNU4ATAC RNU7-1 RPGRIP1L RREB1 RUNX1 RYR1 SAA1 SCAPER SCLT1 SCN2B SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4D SERPINA6 SERPING1 SFTPB SFTPC SH2B3 SHPK SIM1 SLC12A1 SLC12A3 SLC25A11 SLC25A20 SLC2A10 SLC30A10 SLC30A9 SLC35A2 SLC37A4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCAL1 SNCA SOX10 SOX3 SP110 SPG11 SPIB SPP1 SPRY2 SRSF2 STAR STAT1 STAT2 STAT4 STN1 STOX1 STX1A SUGCT TBL2 TBX1 TBX19 TCF4 TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBD THSD1 THSD4 TJP2 TLR7 TMEM127 TMEM237 TMEM270 TMEM67 TMEM70 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF15 TNFSF4 TNIP1 TNNT2 TNPO3 TOM1 TP53 TRAF3IP1 TREX1 TRIM28 TRIM32 TRIP13 TRPC6 TSC1 TSC2 TTC26 TTC8 TTR TULP3 TXNRD2 UBE2L3 UBR1 UFD1 USP48 USP8 VAC14 VANGL1 VHL VPS35 VPS37D WDPCP WDR19 WDR35 WNK1 WNK4 WRN WT1 XPNPEP3 XYLT1 XYLT2 YY1AP1 ZFYVE19 ZMPSTE24 ZNRF3 HP_ABNORMAL_TALUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TALUS_MORPHOLOGY AARS1 ADAT3 ARID1B ATPAF2 BAP1 CCDC8 CHRNG CLTCL1 COASY COL25A1 CUL7 DOK7 DPH5 EMG1 EN1 EPB41L1 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 FGFR2 FIG4 FLNA GLE1 H4C9 HOXD10 IPO8 KATNB1 KIF14 LMNA MAF MAGEL2 MET MUSK MYBPC1 MYH3 MYL11 NALCN NDE1 NUP188 NUP88 OBSL1 OTUD5 PEX1 PHEX PHGDH PLAA POR PSAT1 PUF60 RBM10 RELN RSPRY1 SAMD9 SCYL2 SLC29A3 SLC2A10 SMPD4 SOX4 TELO2 TNNI2 TNNT3 TOR1A TPM2 VAC14 WRN ZC4H2 ZMPSTE24 HP_ABNORMAL_TARSAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TARSAL_OSSIFICATION CANT1 COL2A1 EBP EIF2AK3 HOXA13 INPPL1 MATN3 PTH1R SLC35D1 HP_ABNORMAL_TEMPER_TANTRUMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPER_TANTRUMS ADNP ARPC4 CLCN3 CNTNAP2 CSNK2A1 CTCF CTNNB1 DPF2 FMR1 FOXP2 GBA1 GNAI1 KAT5 MAGEL2 NDN OCA2 PACS1 PPP2R5D RSRC1 SATB2 SCN8A SETBP1 SIM1 SNRPN SRCAP TACO1 TAOK1 TLK2 TUBB2B USP7 WARS2 HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY CEP57 FGFR3 GDF3 GDF6 POR HP_ABNORMAL_TEMPORAL_LOBE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_LOBE_MORPHOLOGY ABCC6 ACD ACP5 ACVR1 ADAR AIRE AMER1 AP1S2 APP ATP7A BRAF CA2 CASR CLCNKB COL11A1 COL2A1 COLGALT1 CPT2 CSF1R CTC1 CTNNB1 CTNS CTSC CYP2U1 DAG1 DDR2 DENND5A DKC1 DNM1L ECM1 ENPP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOSC2 FAM111A FAM20C FARSB FGFR1 FGFR3 GATA3 GJA1 GNA11 GNAQ GNAS HLA-DQA1 HLA-DQB1 HRAS IFIH1 IFNG IRF8 ISG15 JAM2 KARS1 KATNB1 KL KRAS KRIT1 LSM11 MGP MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYMK MYMX MYO5A MYORG NDE1 NHP2 NOP10 NPM1 NRAS NSMCE3 OCLN ODC1 OPA1 PAH PARN PDGFB PDGFRB PEX1 PEX6 POT1 PPFIBP1 PSMB8 PSMG2 PTCH1 PTCH2 PTH QDPR RAB39B RELN RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU7-1 RTEL1 SAMHD1 SC5D SLC12A3 SLC20A2 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC46A1 SLC4A4 SMARCB1 SNORD118 SNRPB STAT2 SUCLA2 SUFU TCIRG1 TERC TERT TINF2 TNFRSF11A TREM2 TREX1 TSC1 TSC2 TYMS TYROBP USB1 USP18 VPS33A WRAP53 WWOX XPR1 ZBTB20 ZNFX1 ZSWIM6 HP_ABNORMAL_TENDON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TENDON_MORPHOLOGY AARS1 ABCC8 ABCC9 ABCD1 ABCG5 ABCG8 ABHD12 ABL1 ACADM ACADS ACER3 ACTA1 ACTG2 ADAMTS3 ADAMTSL2 ADAR ADAT3 ADCY6 ADGRG1 ADGRG6 AGRN AGTPBP1 AHSG AIFM1 AIMP1 AIMP2 ALAD ALDH18A1 ALDH3A2 ALG1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ALG9 ALS2 ALX1 ALX3 AMER1 ANKLE2 ANKRD55 ANO5 ANTXR2 AP1S2 AP4B1 AP4E1 AP4S1 APC2 APOA1 APOA2 APOB APOE ARID1B ARL6IP1 ARPC4 ARSB ARX ASAH1 ASCC1 ASXL1 ASXL3 ATAD1 ATP11A ATP2A1 ATP5F1D ATP6V1A ATP6V1E1 ATPAF2 ATR ATRX AUTS2 B3GALT6 B3GAT3 B4GALT7 B9D2 BAG3 BANF1 BCAS3 BCOR BCR BGN BHLHA9 BICD2 BIN1 BLTP1 BMPR1A BRAT1 BRF1 BRPF1 C18orf32 C19orf12 CACNA1A CACNA1C CACNA1E CADM3 CAMLG CANT1 CAPN3 CARS1 CASZ1 CAV1 CAVIN1 CCBE1 CCDC22 CCDC32 CCDC47 CCN2 CCN6 CCR6 CD244 CD247 CDC42 CDC45 CDC6 CDH3 CDK13 CDK5 CDON CDT1 CEP55 CETP CFL2 CHAT CHD7 CHMP1A CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CIITA CLCF1 CLCN3 CLDN11 CLIC2 CLPB CNTN1 CNTNAP1 COASY COG1 COG5 COL11A1 COL11A2 COL12A1 COL13A1 COL17A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COL7A1 COQ7 COX11 CPT2 CREBBP CRKL CRLF1 CRPPA CSGALNACT1 CTCF CTDP1 CUL4B CYP27A1 DAG1 DARS2 DCHS1 DCX DDHD2 DDR2 DEGS1 DHCR24 DHODH DHX16 DISP1 DLK1 DLL1 DLL3 DMD DNA2 DNAJB6 DNM2 DOK7 DPAGT1 DPH1 DPH2 DPM1 DPM2 DSE DSP DST DUSP6 DVL1 DVL3 DYM DYRK1A EBP ECE1 ECEL1 EED EFNB1 EIF5A ELN ELOVL4 EMD EMG1 EMILIN1 EP300 EPB41L1 EPCAM EPHX2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ESCO2 EXOC2 EXOC7 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EZH2 F8 FAM111B FAM20C FAN1 FANCC FAT4 FBN1 FBN2 FBXO28 FBXW11 FCSK FDFT1 FERMT1 FGD1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FHL1 FIBP FIG4 FITM2 FKBP10 FKRP FKTN FLNA FLNC FLRT1 FLVCR1 FLVCR2 FOXH1 FOXP1 FUCA1 FUS FUT8 FZD2 GABRD GAD1 GAN GARS1 GAS1 GBA1 GBA2 GBE1 GCH1 GCK GDAP1 GDF5 GFM2 GFPT1 GHR GJA1 GJA5 GJA8 GJB1 GJB2 GJB6 GLDN GLE1 GLI2 GLI3 GLUL GMNN GMPPB GNB2 GNPAT GNPTAB GNRH1 GNRHR GNS GOLGA2 GON7 GORAB GPC3 GPC4 GPKOW GPT2 GRIA4 GRID2 GRIN1 GSC GTF2E2 GTF2H5 GUSB H1-4 H3-3A H4C9 HACD1 HBA1 HBA2 HES7 HEXB HGD HIKESHI HINT1 HK1 HLA-DRB1 HNRNPA1 HOXD13 HPDL HRAS HS2ST1 HS6ST1 HSPB1 HSPD1 HSPG2 HUWE1 IARS2 IBA57 IDH1 IDS IDUA IFIH1 IGF2 IGHMBP2 IKBKG IL10 IL2RA IL2RB IL6ST IMPDH2 INF2 INS IPO8 IRF5 ITCH ITGA7 ITGB4 ITGB6 JAG2 JARID2 JUP KAT6B KBTBD13 KCNAB2 KCNJ11 KCNJ6 KCNK9 KCNN3 KDM5B KDM5C KIAA0319L KIAA0753 KIDINS220 KIF14 KIF15 KIF1A KIF21A KIF22 KIF26A KIF5A KIF5C KISS1 KISS1R KL KLC2 KLHL40 KLHL41 KLHL7 KLHL9 KMT2A KMT2B KRAS KRT1 KRT14 KRT16 KRT9 KY L1CAM LAGE3 LAMA2 LAMA5 LAMB3 LARGE1 LBR LDLR LDLRAP1 LEMD3 LFNG LGI4 LIAS LIFR LMBR1 LMBRD2 LMNA LMNB1 LMOD3 LMX1B LONP1 LPIN2 LSM11 LSS LTBP4 LUZP1 LZTR1 MAF MAFB MAGEL2 MAN1B1 MAP3K20 MAP3K7 MAPK1 MARS1 MBTPS2 MECP2 MECR MED11 MED12 MED13L MED25 MEG3 MEGF10 MEGF8 MESP2 MET MFN2 MKS1 MLH1 MLH3 MLXIPL MMP1 MMP2 MMP23B MORC2 MPDU1 MPLKIP MRPS34 MSH2 MSH6 MSL3 MT-TE MTM1 MTMR14 MTRFR MTX2 MUSK MYBPC1 MYH2 MYH3 MYH7 MYH8 MYL1 MYL11 MYL2 MYMK MYO18B MYO9A MYOD1 MYOT MYPN NAA10 NACC1 NALCN NARS1 NCAPG2 NDE1 NDRG1 NDUFAF4 NEB NEDD4L NEFL NEK9 NFATC2 NFKBIL1 NGLY1 NHLH2 NIPBL NKAP NKX3-2 NLRP3 NOD2 NODAL NOG NPPA NR4A2 NRCAM NSD1 NSDHL NSMF NSRP1 NSUN2 NT5C2 NUP107 NUP133 NUP188 NUP88 NXN OCRL OPA1 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B P4HTM PAX3 PAX7 PCNA PCSK9 PDGFRB PDHA1 PDPN PDX1 PDXK PERP PEX1 PEX2 PEX5 PEX6 PEX7 PHACTR1 PHF6 PHGDH PI4KA PIEZO2 PIGA PIGL PIGN PIGP PIGS PIGY PIK3C2A PIK3CA PIK3R2 PIP5K1C PITX1 PLA2G6 PLAA PLCH1 PLEC PLEKHG5 PLOD1 PLOD2 PLOD3 PLP1 PLXND1 PMM2 PMP22 PMS1 PMS2 PNPT1 POLD1 POLR3A POLR3GL POMK POMT1 POMT2 POP1 POR PORCN POU3F4 PPP1R17 PPP1R21 PPP2R5D PPP3CA PPT1 PQBP1 PRDM16 PRDM5 PRG4 PRKCG PRKCZ PROK2 PROKR2 PRUNE1 PSAT1 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTCH1 PTDSS1 PTF1A PTH1R PTPN2 PTPN22 PTRH2 PYCR1 PYCR2 PYROXD1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAPSN RARS2 RBM28 REEP1 RERE REV3L RFC1 RFT1 RIC1 RIPK4 RIPPLY2 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNU4ATAC RNU7-1 ROR2 RPL10 RPS20 RSPO2 RTL1 RTTN RYR1 RYR3 SALL4 SAMHD1 SATB2 SCARF2 SCN4A SCN5A SCYL2 SDHA SDHAF1 SDHB SDHD SEC31A SELENON SEMA4A SEPSECS SETBP1 SETD2 SGCA SGCG SH3PXD2B SHH SHPK SIGMAR1 SIK3 SIL1 SIN3A SIX3 SKI SLC10A7 SLC12A6 SLC16A2 SLC18A3 SLC1A2 SLC1A4 SLC22A4 SLC25A1 SLC25A19 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC2A10 SLC35A2 SLC35A3 SLC39A13 SLC39A14 SLC39A8 SLC5A7 SLC6A9 SLC9A6 SLURP1 SMAD3 SMAD4 SMARCA2 SMARCAD1 SMC1A SMG9 SMOC1 SMPD4 SMS SNAP25 SNRPB SNX14 SON SOX10 SOX9 SPART SPEG SPEN SPG11 SPRTN SPRY4 SPTBN4 SPTLC1 SRD5A3 SRPX2 STAC3 STAG2 STAT3 STAT4 STIL STIM1 SUCLG1 SUZ12 SVIL SYNE1 SYNE2 SYT1 SYT2 TAC3 TACR3 TAPT1 TARS1 TBC1D20 TBC1D2B TBCD TBR1 TBX15 TBX2 TBX3 TBX4 TCTN3 TDGF1 TDO2 TELO2 TFAP2A TFG TGDS TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 THOC6 TLK2 TMEM107 TMEM218 TMEM222 TMEM43 TMEM70 TNNC2 TNNI2 TNNT1 TNNT3 TNPO3 TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPRKB TRAK1 TREX1 TRIM2 TRIP13 TRIP4 TRPS1 TRPV3 TRPV4 TSEN54 TTN TTPA TTR TUBA1A TUBB3 TWIST2 UBA1 UBE4B UCHL1 UFC1 UNC80 UPF3B UROS USP7 VAMP1 VARS1 VIPAS39 VMA21 VPS11 VPS33A VPS33B VPS53 VRK1 VWA1 WDR11 WDR26 WDR4 WDR45B WDR73 WIPI2 WNT5A WNT7A XYLT1 YRDC YY1 ZBTB20 ZBTB42 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZMPSTE24 ZNF335 ZNF407 ZNF469 ZNHIT3 ZPR1 HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY AKT1 BAP1 CLN8 COX10 CP FTL GFAP GTPBP3 HEXB MFF MTRFR NF2 PDGFB PIK3CA POLG PTCD3 SCP2 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TREM2 TWNK HP_ABNORMAL_THIRD_TOE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THIRD_TOE_MORPHOLOGY BCOR COG8 DACT1 EOGT LMNA MAP3K20 NOG SALL1 TBC1D2B HP_ABNORMAL_THIRD_VENTRICLE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THIRD_VENTRICLE_MORPHOLOGY ASNS ATP6AP2 C2CD3 CSPP1 DNMT1 EIF2B5 KCNN2 KIAA0586 KIDINS220 LARGE1 MED25 ODC1 TAOK1 TTC5 USP7 HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY AARS1 ACTA1 ADGRG6 AEBP1 AGRN AIFM1 AK9 ALDH3A2 ALMS1 AMER1 ANKRD11 AP1G1 BAG3 CARS1 CCN6 CDH11 CHRNA1 CHRNB1 CHRND CHRNE COG1 COL13A1 COL2A1 CYP27A1 DES DMD DOK7 DYM ERCC2 ERCC3 ERLIN1 EXTL3 FBXO28 FGFR3 FLI1 FLNB GBA1 GDF3 GLB1 GNPTAB GNS GTF2E2 GTF2H5 GUSB HECTD4 HINT1 IARS2 ITCH KIF22 KMT2D KY LBR LHX3 LMNA LRP4 MAN2B1 MED12L MGAT2 MOGS MPLKIP MTRFR MUSK MYH7 MYPN NARS1 NEK9 NEPRO NFIX NKX3-2 NPR2 PCGF2 PEX5 PHF8 PIK3C2A PIK3R2 PLK4 PLOD1 POP1 PRKG2 PUF60 PYCR2 RAB3GAP2 RAB5IF RAPSN RBBP8 RMRP RNF113A RYR1 SC5D SCN4A SERPINH1 SGCA SLC26A2 SMARCAL1 SOX5 SOX9 SPRTN SRD5A3 TARS1 TBX5 TMEM231 TONSL TPM2 TPM3 TRAPPC2 TRPV4 TUBB3 VPS13B VPS33A WDR81 XYLT2 ZMPSTE24 HP_ABNORMAL_THORAX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORAX_MORPHOLOGY AARS1 ABCA3 ABCC6 ABCC9 ABCD4 ABL1 ACAN ACP5 ACTA1 ACTA2 ACTB ACTG2 ADA ADA2 ADAMTS10 ADAMTS3 ADAMTSL2 ADGRG1 ADGRG6 ADNP AEBP1 AFF3 AGA AGRN AIFM1 AK9 AKT1 ALDH18A1 ALDH1A2 ALDH3A2 ALG12 ALG14 ALG2 ALMS1 ALPL ALX4 AMER1 ANAPC7 ANK1 ANKRD11 ANKRD55 ANO5 ANTXR1 ANXA11 AP1G1 APC APC2 AR ARF1 ARFGEF2 ARID1B ARID2 ARL3 ARSB ARSK ARSL ARVCF ASAH1 ASH1L ASPH ASXL1 ATAD3A ATG7 ATP2B1 ATP6V0A2 ATP6V1B2 ATP7A ATR B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 BAG3 BANF1 BAP1 BAZ1B BCL7B BCOR BCORL1 BGN BICD2 BICRA BIN1 BMP1 BMP2 BMPER BMPR1A BRAF BRD4 BUB1B BUD23 C19orf12 C2CD3 CA2 CANT1 CAPN3 CARS1 CASR CASZ1 CBFB CBL CBS CCBE1 CCDC22 CCDC47 CCDC8 CCN6 CD247 CD96 CDC42 CDC42BPB CDC45 CDC6 CDH11 CDH2 CDON CDT1 CENPJ CEP120 CEP152 CFAP410 CFL2 CHAT CHD4 CHD7 CHRM3 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST11 CHST14 CHST3 CILK1 CLCN7 CLIP2 COG1 COG4 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMP COMT CPLANE1 CPLX1 CREB3L1 CREBBP CRPPA CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CTNS CTSK CUL4B CUL7 CUX1 CYP21A2 CYP27A1 CYP27B1 CYP2R1 DACT1 DCHS1 DDR2 DDRGK1 DDX3X DES DHCR7 DHODH DICER1 DISP1 DLG3 DLK1 DLL1 DLL3 DMD DNAJC21 DNAJC30 DNM1L DNM2 DNMT3A DOK7 DONSON DPAGT1 DPF2 DPYSL5 DSE DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DYSF EBP EFEMP2 EFL1 EFNB1 EIF2AK3 EIF4H ELMO2 ELN EMD EMILIN1 ENPP1 EP300 ERCC2 ERCC3 ERF ERLIN1 ERMARD ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 EYA1 EZH2 FAM111A FAM149B1 FAM20C FARSB FAT4 FBLN5 FBN1 FBN2 FBXL3 FBXO28 FERMT1 FGD1 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP6 FKTN FLI1 FLNA FLNB FLNC FMR1 FN1 FOXE3 FOXF1 FOXH1 FRA10AC1 FRAS1 FREM2 FRG1 FUCA1 FUZ FZD2 G6PC3 GABRA3 GABRD GAD1 GALNS GAS1 GATA1 GATA4 GATA6 GBA1 GDAP1 GDF11 GDF3 GDF6 GFPT1 GJA1 GJA5 GJA8 GLB1 GLE1 GLI1 GLI2 GLI3 GMNN GMPPB GNB1 GNB2 GNE GNPTAB GNPTG GNS GORAB GP1BB GPC3 GPC4 GPKOW GPX4 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GYG1 GZF1 H19 HACD1 HBA1 HBA2 HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HERC1 HES7 HEY2 HGSNAT HHAT HINT1 HIRA HNF1B HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXD13 HPGD HRAS HS2ST1 HSD17B4 HSPG2 HUWE1 HYOU1 IARS2 IDH1 IDS IDUA IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IGBP1 IGF1R IGF2 IHH IKBKG IL1RN IL2RA IL2RB IL6ST INPP5K INPPL1 INTS1 INTU IPO8 IRF6 IRX5 ITCH ITGA3 ITGA7 JAG1 JAG2 JMJD1C KANSL1 KAT6A KBTBD13 KCNAB2 KCNJ2 KCNJ8 KCNQ1OT1 KDELR2 KDM5C KDM6B KIAA0586 KIAA0753 KIF22 KIF7 KLHL40 KLHL41 KLLN KMT2A KMT2D KRAS KRT5 KY KYNU LAMA2 LAMA5 LAMB2 LBR LEMD2 LEMD3 LETM1 LFNG LGI3 LGI4 LHX3 LIFR LIG4 LIMK1 LMBRD2 LMNA LMOD3 LMX1B LONP1 LOX LRIF1 LRP2 LRP4 LRP5 LRRK1 LTBP1 LTBP2 LUZP1 LYSET LZTR1 MAF MAMLD1 MAN1B1 MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPRE2 MARS2 MAT2A MATN3 MBD5 MBTPS1 MBTPS2 MECP2 MED12 MED12L MED25 MEG3 MEGF10 MEGF8 MEOX1 MESD MESP2 MET METTL27 MFAP5 MGAT2 MGP MLXIPL MME MMP13 MMP14 MMP2 MMP23B MOGS MPLKIP MRAS MSTO1 MSX2 MTM1 MTMR14 MTOR MTRFR MTX2 MUSK MYBPC1 MYF5 MYF6 MYH11 MYH2 MYH3 MYH7 MYL11 MYL2 MYLK MYO9A MYOD1 MYPN MYSM1 NAA10 NADSYN1 NAGLU NALCN NARS1 NCF1 NEB NEDD4L NEFL NEK1 NEK9 NELFA NEPRO NEU1 NF1 NFASC NFIX NGLY1 NHLRC2 NIPBL NKAP NKX3-2 NODAL NOG NOTCH2 NOTCH3 NPR2 NPR3 NRAS NSD1 NSD2 NSDHL NSUN2 NUP107 NUP88 NXN OBSL1 OCRL ODC1 OPA1 ORC1 ORC4 ORC6 OSGEP OTUD6B P3H1 P4HB PACS1 PAICS PAM16 PAX1 PAX3 PAX7 PCGF2 PCNT PCYT1A PDGFRB PDHX PDPN PEX1 PEX5 PGAP2 PGAP3 PHEX PHF8 PI4KA PIEZO1 PIEZO2 PIGA PIGG PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3R2 PLAA PLCB3 PLEKHM1 PLIN4 PLK4 PLOD1 PLOD2 PLXND1 POGLUT1 POLG POLR2A POLR3A POMT2 POP1 POR PORCN PPIB PPP1CB PPP1R15B PPP1R21 PPP2R1A PPP3CA PQBP1 PRDM16 PRIM1 PRKACA PRKACB PRKCZ PRKG1 PRKG2 PRNP PROKR2 PRR12 PSMB8 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPN2 PTPN22 PUF60 PUS1 PYCR1 PYCR2 PYROXD1 RAB33B RAB3GAP2 RAB5IF RAD21 RAF1 RAPSN RASA2 RBBP8 RBM10 RBM8A RECQL4 RERE REST RET RFC2 RIN2 RIPK4 RIPPLY2 RIT1 RMRP RNF113A RNF135 RNU12 RNU4ATAC ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUNX2 RYR1 RYR3 SALL1 SALL4 SBDS SC5D SCARF2 SCN4A SCUBE3 SDHB SDHC SDHD SEC23A SEC23B SEC24C SEC24D SELENON SEMA3E SEPTIN9 SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SFRP4 SFTPB SFTPC SGCA SGCB SGCD SGCG SGSH SH2B1 SH3PXD2B SHH SHOC2 SIK3 SIL1 SIM1 SIX3 SIX6 SKI SLC10A7 SLC12A2 SLC16A2 SLC17A5 SLC18A3 SLC25A1 SLC26A1 SLC26A2 SLC2A1 SLC2A10 SLC34A1 SLC34A3 SLC35D1 SLC37A4 SLC5A7 SLC9A6 SMAD2 SMAD3 SMAD4 SMARCAL1 SMC1A SMC3 SMCHD1 SMO SMPX SMS SNAP25 SNRPB SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX2 SOX5 SOX9 SP7 SPECC1L SPEG SPEN SPRED1 SPRED2 SPRTN SPTLC1 SQSTM1 SRCAP SRD5A3 SRP54 SRPX2 SRY STAT4 STIL STX1A SYNE1 SYNE2 SYT2 TAF1 TAPT1 TARS1 TBC1D24 TBCD TBCE TBCK TBL2 TBX1 TBX15 TBX2 TBX3 TBX5 TBX6 TCIRG1 TCTN2 TCTN3 TDGF1 TELO2 TENT5A TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THSD4 TK2 TMCO1 TMEM231 TMEM270 TMEM43 TMEM53 TMEM94 TMTC3 TNFRSF11A TNFRSF11B TNFSF11 TNNT1 TNPO3 TOE1 TONSL TOR1A TPM2 TPM3 TRAPPC2 TRIO TRIP11 TRIP4 TRMT10A TRPM3 TRPS1 TRPV4 TRPV6 TSR2 TTC21B TTN TUBB TUBB3 TWIST1 TWNK UBA1 UBE3B UBE4B UBTF UCHL1 UFD1 UPF3B USF3 USP18 VAC14 VAMP1 VANGL1 VCP VDR VPS13B VPS33A VPS35L VPS37A VPS37D VRK1 VWA1 WASHC5 WBP11 WDR11 WDR19 WDR35 WDR81 WNT1 WNT3 WNT4 WNT5A WNT7A WRN XYLT1 XYLT2 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFPM2 ZIC2 ZMIZ1 ZMPSTE24 ZNF668 HP_ABNORMAL_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THROMBOSIS ABCC9 ACVRL1 ADA2 AGGF1 AKT1 ALG6 BCOR BMPR2 C4A CALR CASR CBS CCR1 CD46 CD55 CFH CFI CFTR CITED2 CPA1 CTLA4 CTNNB1 CTRC ENG EPAS1 EPOR ERAP1 F12 F13A1 F2 F5 F8 F9 FAS FCGR2C FGA FGB FGG FIP1L1 FLNC GATA4 GATA5 GATA6 GDF2 GJA5 GNAQ HABP2 HBB HELLPAR HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HRG IDH1 IDH2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST IRF2BP2 JAK2 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNK3 KCNN4 KCNQ1 KIF11 KIF20A KLRC4 LIPA LPIN1 MEFV MET MMACHC MPI MPL MT-CO1 MT-CO3 MT-CYB MTHFR MTRR MYH7 MYH9 MYL4 MYPN NABP1 NFS1 NKX2-5 NKX2-6 NLRC4 NOTCH1 NPM1 NPPA NUMA1 NUP155 OBSCN P4HA2 PDE11A PDGFRA PGM1 PIEZO1 PIGA PIGM PITX2 PLG PML PMM2 PRDX1 PRKAR1A PROC PRORP PROS1 PRSS1 PRSS2 PRTN3 PTEN PTH1R PTPN22 RARA RASA1 RFT1 RHAG RYR1 SAA1 SCN1B SCN2B SCN3B SCN4B SCN5A SERPINC1 SERPIND1 SH2B3 SLC2A10 SLC4A1 SMAD4 SPINK1 STAT3 STAT4 STAT5B TBL1XR1 TET2 TGFB2 THBD THPO TLL1 TLR4 TNNI3 TNNT2 TP53 TTN TTR UBA1 UBAC2 VHL ZBTB16 HP_ABNORMAL_THUMB_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THUMB_MORPHOLOGY ABCD1 ACAN ACTA1 ACTB ACTG1 ACVR1 ADA2 ADAMTS10 ADGRG6 ADH5 ADNP ALDH18A1 ALG12 ALG13 ALG3 ALG9 ALX4 ANKLE2 ANKRD11 AP4M1 APC ATAD1 ATP6V1B2 ATP7A B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BAP1 BAZ1B BCL7B BCOR BHLHA9 BICD2 BICRA BLTP1 BMP2 BMP4 BMPR1A BMPR1B BPNT2 BPTF BRCA1 BRCA2 BRD4 BRIP1 BUD23 CANT1 CBFB CC2D2A CDC42 CDC45 CEP290 CHD7 CHN1 CHST11 CHST14 CHST3 CHSY1 CILK1 CLIC2 CLIP2 CNOT1 COG7 COL12A1 COL2A1 COL6A1 COL6A2 COL6A3 CPLANE1 CPLX1 CREBBP CRIPT CRLF1 CRPPA CSPP1 CTBP1 CUL3 CWF19L1 DACT1 DHCR7 DHODH DHX30 DLK1 DLX5 DNAJC30 DNM1L DONSON DPH2 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 ECE1 ECEL1 EDN3 EDNRB EED EFTUD2 EIF4A3 EIF4H ELN EP300 EPB41L1 ERBB2 ERBB3 ERCC1 ERCC4 ESCO2 EXOSC2 EXOSC9 EXTL3 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBN2 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP6 FLNA FLNB FRA10AC1 FRAS1 FZD2 G6PC3 GATA1 GATA4 GDF5 GDNF GJA1 GJA5 GJA8 GLI1 GLI3 GNAS GNB1 GON7 GPC3 GPC4 GPKOW GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HDAC8 HEATR3 HEPACAM HNRNPR HOXA13 HOXD13 HPGD HYLS1 IFT80 IHH INPPL1 INTU KAT6B KATNB1 KCNH1 KCNN3 KCTD1 KDM1A KIF7 KLHL40 KLHL41 KNSTRN L1CAM LAGE3 LAMA5 LETM1 LIFR LIG4 LIMK1 LMBR1 LMNB2 LMOD3 LONP1 LRP4 LTBP2 MAD2L2 MAFB MAN2C1 MAP3K7 MED12 MED25 MEG3 MEGF8 MEIS2 METTL27 MGAT2 MGP MIR17HG MKS1 MLXIPL MSL3 MSX2 MYBPC1 MYCN MYH3 MYL11 NAA10 NALCN NCF1 NDE1 NEB NEK1 NEK9 NELFA NIPBL NKX3-2 NOG NONO NPR3 NRTN NSD1 NSD2 NSUN2 NUP107 NUP133 NXN OFD1 OPA3 OSGEP OTUD6B PACS1 PAH PALB2 PCDHGC4 PCGF2 PCNT PHF8 PHGDH PIGB PIGF PIGG PIGY PIK3CD PKDCC PLXND1 POGZ PPP2R3C PQBP1 PRKD1 PRKG2 PSMD12 PTCH1 PTEN PTH1R PTRH2 PUF60 PYCR2 RAB23 RAD21 RAD51 RAD51C RB1 RBM8A RECQL RECQL4 RELN RET REV3L RFC2 RFT1 RFWD3 RIPK4 RLIM RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RSPO2 RTL1 RUNX2 SALL1 SALL4 SATB2 SEMA3C SEMA3D SETBP1 SF3B2 SF3B4 SHH SHMT2 SIAH1 SIN3A SLC26A2 SLC35B2 SLC9A6 SLX4 SMC1A SMC3 SMO SMOC1 SMPD4 SNIP1 SON SOX9 SPART SRCAP SREBF1 STUB1 STX1A SUMF1 SUZ12 SVBP SYNE1 TAPT1 TBC1D24 TBL2 TBX5 TCTN1 TCTN2 TCTN3 TDO2 TFAP2A TGDS TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TNNI2 TNNT3 TOR1A TP53RK TP63 TPM2 TPRKB TRIO TRPM3 TSR2 TTC26 TWIST1 TXNDC15 UBE2T USP9X VAC14 VPS35L VPS37D WDR35 WDR4 WDR73 WIPI2 WNT5A XRCC2 XYLT1 YRDC ZC4H2 ZEB2 ZIC3 ZMYM2 ZNF462 ZNF668 ZNF699 HP_ABNORMAL_THYMUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYMUS_MORPHOLOGY ADA AK2 AKT1 ALG14 ANTXR2 ARVCF ATM CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COMT DCLRE1C EPG5 ERCC8 FRAS1 FREM2 G6PC3 GP1BB HIRA IL2RG JMJD1C KMT2D LTBP4 MCM10 MEN1 MTHFR NEK9 NKX2-6 NSMCE3 NUAK2 ORAI1 PEX5 PI4KA PLXND1 POLR1B POLR1C POLR1D POLR3A PTEN RAG1 RAG2 RORC RREB1 SEC24C SKIC2 SKIC3 TBX1 TBX2 TCOF1 TFAP2A TP63 TTC7A UFD1 VANGL2 WAS WIPF1 HP_ABNORMAL_THYROID_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_MORPHOLOGY ABCD1 ADA ADA2 ADAMTSL1 AKT1 ALMS1 APC ARID1A ARID1B ARID2 ATP7A BMPR1A C1S CACNA1S CASP10 CCBE1 CDC73 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHD7 CHEK2 CLCNKB CTLA4 DCLRE1C DICER1 DNAH1 DPF2 DUOX2 DUOXA2 ECE1 EDN3 EDNRB EPCAM ERBB2 ERBB3 EYA1 FAN1 FAS FASLG FLCN FOXD3 FOXE1 FOXI1 FOXP3 GDNF GLI3 GNAS GNB2 GPR35 GREM1 HABP2 HEPACAM HESX1 HLA-DQA1 HLA-DQB1 HRAS IDH1 IDH2 IL18BP IL2RA IL2RG IL6ST IL7R IRS4 ITCH IYD JAG1 KAT6B KCNJ10 KCNJ18 KEAP1 KLLN KMT2D KRAS LHX3 LHX4 LIFR LIG4 LMNA LRBA MAD1L1 MDM2 MEN1 MID1 MINPP1 MLH1 MLH3 MMP14 MMP2 MSH2 MSH3 MSH6 MST1 NDUFB11 NFKB2 NKX2-1 NKX2-5 NLRP1 NRAS NRTN NSDHL PAX8 PDE11A PI4KA PIK3CA PLCG2 PMS1 PMS2 POLG POLG2 POLR1B POLR1C POLR1D POU1F1 PRKAR1A PRKCD PROP1 PTEN RAG1 RAG2 RASGRP1 RCBTB1 RET RMRP RPS20 RRM2B SASH1 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SEMA4A SEMA4D SIX1 SLC12A3 SLC25A4 SLC26A4 SLC37A4 SLC5A5 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SOCS1 SOX11 SOX4 SREBF1 SRGAP1 STAT1 STAT5B SUGCT TBX2 TCF4 TCOF1 TG TGFBR2 THRB TOM1 TP53 TPO TRHR TSHB TSHR TTC7A TWNK USF3 WRN ZFAT HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL ALB ALMS1 CDH23 CPE DCAF17 DMXL2 DUOX2 DUOXA2 GLIS3 GNAS HESX1 IGSF1 IRS4 IYD KCNJ18 LHX3 LHX4 MRPS7 NKX2-1 NKX2-5 OTX2 PAX8 PDGFRB PLVAP PMM2 POU1F1 PRKAR1A PROP1 PSMB8 ROBO1 SECISBP2 SLC16A2 SLC25A36 SLC35A2 SLC5A5 SMARCAL1 SMC5 TBL1X TG THRB TPO TRHR TSHB TSHR HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION ABCD1 ABCG5 ABCG8 ABHD5 ACAD9 ACADM ACADS ACADVL ACBD5 ACOX1 ACSL5 ACTA1 ADK AFG3L2 AGPAT2 AKR1D1 AKT2 ALDOB ALMS1 APOB APOE ARMC5 ARSA ATP6AP1 ATP6AP2 ATP7B BCS1L BLM BMP6 BSCL2 CACNA1S CARS2 CASZ1 CAV1 CAVIN1 CBS CCDC115 CEP19 CHCHD10 CIDEC CLPB COA8 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COQ2 COQ8A COQ9 COX15 COX6A2 CP CPT1A CPT2 CYP19A1 CYP7A1 DDOST DEF6 DGUOK DHCR7 DNAJC19 DOCK2 DPM1 EARS2 ENO3 ETFA ETFB ETFDH FARS2 FARSA FARSB FBP1 FOCAD FOS FTH1 FTL GAA GABRA3 GABRD GLA GLRX5 GM2A GNAS GNB2 GPD1 GYG1 GYS1 HADH HADHA HADHB HBB HEPACAM HEXA HEXB HMGCL HNF1B HNF4A HNRNPA1 HNRNPA2B1 HSD17B4 HSPG2 IARS1 IFIH1 IFT27 ISCU KBTBD13 KCNAB2 KCNE3 KCNJ18 KHK KLHL41 KMT2B LARS1 LDLR LDLRAP1 LIG3 LIPA LIPE LMNA LMNB2 LPIN1 LRPPRC LUZP1 LYRM4 MARS1 MCCC1 MCOLN1 MICOS13 MIPEP MMP23B MPV17 MRPL3 MRPL44 MRPS7 MSTO1 MT-CO1 MT-CO3 MT-TE MT-TN MT-TS1 MTTP MTX2 MYH7 MYPN NAA10 NDUFA4 NDUFAF1 NDUFS4 NEB NFS1 NGLY1 NHLRC2 NSMCE2 OBSCN PCK1 PCK2 PCSK9 PDPN PDSS2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGM1 PHKA1 PHKA2 PHKB PHKG2 PIGA PLIN1 PMM2 PNPLA2 POLD1 POLG POLG2 POLR3A PPARG PRDM16 PRKCZ PSAP PTEN PTRH2 PYGL PYGM RERE RINT1 RMND1 RNU7-1 RRM2B SAR1B SCN4A SCO1 SDHA SELENON SKI SLC11A2 SLC22A5 SLC25A13 SLC25A20 SLC2A2 SLC30A10 SLC37A4 SLC40A1 SLC51B SLCO1B1 SLCO1B3 SPEN SPTBN1 STAC3 STEAP3 SUCLG1 SURF1 TARS2 TBX1 TFAM TKFC TMEM199 TPM2 TPM3 TRAPPC11 TRMU TTN TYMP UBE4B UNC45A VCP VPS33A VPS4A XRCC4 YARS1 ZFHX4 ZPR1 HP_ABNORMAL_TOENAIL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOENAIL_MORPHOLOGY AFF4 AIP ANGPT2 APC ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BCR BHLHA9 BMP2 BUD23 CKAP2L CLEC7A CLIP2 COL11A1 COL17A1 COL7A1 CPT2 CRKL CSTB CTC1 DKC1 DLL4 DNAJC30 DOCK6 DPF2 DPH1 DPH2 DSP DST DYNC2LI1 EDAR EDARADD EED EIF4H EIF5A ELN EOGT EVC EVC2 EZH2 FERMT1 FGFR1 FKBP6 FLT4 FTO GDF5 GJB2 GJC2 GLI1 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 HOXA13 HRAS IFT122 IFT43 IFT52 IKBKG IL17F IL17RA IL17RC INPPL1 ITGB4 JUP KCNH1 KCNN3 KDM1A KIF11 KIF1A KLHL24 KRT14 KRT5 KRT74 LIG4 LIMK1 LMNA LMX1B LRP4 MAPK1 METTL27 MLXIPL MSX1 NCF1 NECTIN1 NECTIN4 NHP2 NOG NOP10 NOTCH1 NPM1 NSD1 NSUN2 ODC1 PARN PERP PEX1 PEX6 PIEZO1 PIGF PLCD1 PORCN PPP1CB PPP2R5D PRKACA PRKACB RAB3GAP1 RAB3GAP2 RAB7A RBPJ RETREG1 RFC2 RIPK4 RTEL1 RUNX2 SCN9A SCO2 SET SHANK3 SHOC2 SHOX SLC35D1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 STX1A SUZ12 TAF1 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TERC TERT TINF2 TMEM270 TP63 TRAF3IP2 TYMS UMPS USB1 VEGFC VPS37D WDR19 WDR35 WLS WNK1 WNT10A WNT7A WRAP53 ZIC3 ZMPSTE24 ZMYM2 ZSWIM6 HP_ABNORMAL_TOE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOE_MORPHOLOGY AARS1 ABCA12 ABCC9 ABL1 ACAN ACTB ACVR1 ADA ADAMTS2 ADCY6 ADNP AEBP1 AHI1 AKT1 ALDH1A2 ALDH6A1 ALG12 ALG3 ALMS1 ALOX12B ALOXE3 AMER1 AP1G1 APC APC2 ARCN1 ARHGAP31 ARID1A ARID1B ARL13B ARL3 ARL6 ARL6IP6 ARMC9 ARSL ARVCF ARX ASAH1 ASPH ASXL1 ATL3 ATN1 ATP2B1 ATP6V1B2 ATP6V1E1 ATP9A ATR ATRIP B3GALT6 B3GAT3 B3GLCT B4GALT7 B9D1 B9D2 BAZ1B BBS1 BBS12 BBS2 BBS7 BBS9 BCL7B BCOR BCR BHLHA9 BLTP1 BMP2 BMP4 BMPER BMPR1A BMPR1B BMS1 BPNT2 BPTF BRCA1 BRCA2 BRD4 BRIP1 BSCL2 BUD23 C12orf57 C2CD3 CACNA1C CAMTA1 CANT1 CASK CASZ1 CBY1 CC2D2A CCDC22 CCDC28B CCDC47 CCNQ CD96 CDC42 CDC45 CDH3 CDKL5 CENPE CENPJ CEP104 CEP120 CEP152 CEP290 CEP41 CEP55 CERT1 CHCHD10 CHD7 CHP1 CHRNG CHST11 CHST3 CHSY1 CIBAR1 CILK1 CKAP2L CLCF1 CLIP2 CNOT2 CNTNAP1 COA7 COG8 COL11A2 COL12A1 COL1A1 COL1A2 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COMT COX4I1 COX7B CPLANE1 CPLX1 CPT1C CPT2 CREBBP CRKL CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTU2 CUL4B CWC27 DACT1 DCAF8 DCLRE1C DCPS DDX11 DDX59 DDX6 DEAF1 DHCR7 DLEC1 DLK1 DLL4 DLX5 DMXL2 DNA2 DNAJC30 DNM1L DNMT3A DOCK6 DPM1 DSP DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A EBP EED EFNB1 EGR2 EIF2AK3 EIF4A3 EIF4H EIF5A ELN EN1 EOGT EP300 ERCC1 ERCC4 ERF ERLIN2 ERMARD ESCO2 EVC EVC2 EXT2 EXTL3 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBN1 FBXO11 FBXW11 FDFT1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FIBP FIG4 FKBP6 FLI1 FLII FLNA FLNB FRA10AC1 FRAS1 FREM1 FREM2 GABRA3 GABRD GALNT2 GARS1 GATA1 GATA4 GATA6 GATAD2B GBA1 GBF1 GCH1 GDAP1 GDF5 GDF6 GHR GJA1 GJA5 GJA8 GLI1 GLI3 GMNN GNA11 GNAI1 GNAO1 GNAS GNB4 GNE GP1BB GPC3 GPC4 GPX4 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C9 HARS1 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HEPACAM HEPHL1 HERC2 HIRA HNRNPH1 HNRNPK HNRNPR HOXA13 HOXD13 HPGD HRAS HS2ST1 HSD17B4 HSPB1 HSPB8 HSPG2 HUWE1 HYLS1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IGF1R IHH IL11RA IL2RG IL7R IMPDH2 INF2 INPP5E INTS1 INTS8 IPO8 IQCE IQSEC2 IRF6 IRX5 ITCH ITGB4 ITPR3 JARID2 JMJD1C JUP KAT6A KAT6B KAT8 KATNIP KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNMA1 KCNN3 KCTD1 KIAA0586 KIAA0753 KIAA0825 KIF1A KIF1B KIF7 KMT2A KMT2B KMT2D KMT5B KRAS LARS1 LBR LETM1 LIFR LIG4 LIMK1 LMBR1 LMNA LRP4 LRSAM1 LTBP4 LUZP1 LZTFL1 MAB21L2 MAD1L1 MAD2L2 MAN1B1 MAN2C1 MAP3K20 MAPK1 MAPRE2 MBD5 MCTP2 MECP2 MED12 MED25 MEF2C MEG3 MEGF8 MEIS2 METTL27 MFN2 MGP MIA3 MIR17HG MKKS MKS1 MLXIPL MMP2 MMP23B MORC2 MPV17 MPZ MRPS28 MTM1 MTX2 MYCN MYH3 MYH8 MYL11 MYOD1 MYRF NAA10 NBAS NBN NCF1 NDRG1 NECTIN1 NECTIN4 NEDD4L NEFL NEK1 NEK9 NELFA NEUROD2 NFIX NIPBL NKX2-5 NKX2-6 NKX3-2 NOD2 NOG NONO NOTCH1 NOTCH2 NPHP3 NPR2 NPR3 NR4A2 NRAS NRCAM NSD1 NSD2 NSDHL NSUN2 NT5C2 NUP107 NUP85 NXN ODC1 OFD1 OTUD5 OTUD6B PALB2 PAPPA2 PCDHGC4 PCGF2 PCNT PDE4D PDE6D PDPN PDXK PDZD8 PEX7 PHF6 PHF8 PHGDH PHIP PHYH PIBF1 PIEZO2 PIGF PIGG PIGH PIGL PIGN PIGO PIGP PIGQ PIGV PIGY PIK3CA PITX1 PLAA PLEC PLEKHG5 PLK4 PMP2 PMP22 PNKP POLR3A POLR3GL PORCN PPP1R15B PPP1R21 PPP2R1A PPP2R5D PRDM16 PRDM5 PRG4 PRKACA PRKACB PRKAR1A PRKCZ PRKD1 PRKG2 PRX PSAT1 PSMB8 PSMD12 PTEN PTH1R PTHLH PTRH2 PUF60 PYCR2 RAB11B RAB23 RAB3GAP1 RAB3GAP2 RAB7A RAD21 RAD51 RAD51C RAG1 RAG2 RAI1 RALA RBBP8 RBPJ REEP1 RERE RETREG1 RFC2 RFWD3 RFX7 RHBDF2 RHOA RIPK4 RMRP RNF6 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RREB1 RSPRY1 RTL1 RYR3 SACS SALL1 SALL4 SATB1 SATB2 SBF2 SC5D SCARF2 SCN1B SCN2A SCN4A SCN9A SCNM1 SEC24C SETBP1 SETD2 SETD5 SF3B4 SH3TC2 SHANK3 SHH SHMT2 SHOX SIAH1 SIGMAR1 SIK1 SIK3 SIN3A SKI SLC12A2 SLC12A6 SLC16A2 SLC25A22 SLC26A2 SLC29A3 SLC32A1 SLC35A3 SLC35C1 SLC39A8 SLC6A9 SLCO2A1 SLX4 SMAD2 SMAD4 SMARCA2 SMARCA4 SMARCAD1 SMARCD2 SMARCE1 SMC1A SMC3 SMO SMOC1 SMS SNRPN SOD1 SOX5 SOX9 SPART SPECC1L SPEN SRY STAG1 STX1A SUFU SUMF1 SUZ12 SVBP SVIL SYT1 SYT2 TAF6 TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX22 TBX3 TBX4 TCF12 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TELO2 TFAP2B TGDS TGFB3 TGFBR2 THOC6 TLL1 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM94 TNNT3 TOGARAM1 TOPORS TOR1A TP63 TPM2 TPR TRAIP TRIM8 TRIO TRIP12 TRMT10A TRMT5 TRPM3 TRPV4 TRRAP TTC21B TTI2 TWIST1 TWIST2 TXNDC15 TXNL4A UBA2 UBE2A UBE2T UBE4B UFD1 USP7 USP9X VAC14 VCP VPS13B VPS37D WASF1 WDPCP WDR19 WIPI2 WLS WNK1 WNT10B WNT5A WNT7A WWOX XRCC2 XYLT1 XYLT2 YY1 ZEB2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF141 ZNF407 ZNF423 ZNF469 ZNF668 ZNF699 ZSWIM6 HP_ABNORMAL_TOE_PHALANX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOE_PHALANX_MORPHOLOGY ABCC9 ACTB ACVR1 ARID1B ARSL ARX ATP6V1B2 BHLHA9 BMP2 BMPR1A BMPR1B BRCA1 BRCA2 BRIP1 C2CD3 CANT1 CASK CDKL5 COL12A1 COL3A1 COL6A1 COL6A2 COL6A3 CREBBP CTCF DACT1 DMXL2 EFNB1 EOGT EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR1 FGFR2 FGFR3 FIG4 FLI1 GATA4 GDF5 GLI3 GNAO1 GPC4 GRIN1 GRM7 HNRNPH1 HOXD13 HPGD HS2ST1 HYLS1 IFT122 IHH KCNA1 KCNH1 KCNJ8 KCNN3 KIAA0753 KIF1A KIF7 LMBR1 LMNA MAD2L2 MAP3K20 MED25 NEK1 NEUROD2 NOG NOTCH2 NXN PALB2 PIGF PIGL PIGP PIGQ PNKP PTEN PTHLH RAB23 RAD51 RAD51C RETREG1 RFWD3 RHBDF2 RIPK4 ROR2 SALL1 SALL4 SATB2 SCN1B SCN2A SCN9A SIK1 SLC25A22 SLC32A1 SLCO2A1 SLX4 SMARCA2 SMARCA4 SMO SOX9 SUMF1 TBC1D24 TBR1 TLL1 TP63 TRIM8 TRPV4 TWIST1 UBE2A UBE2T VAC14 WDR19 WLS WNK1 WNT7A XRCC2 ZMPSTE24 HP_ABNORMAL_TONGUE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_MORPHOLOGY ABCC8 ACTB ACVRL1 ADGRG1 ADNP AFF3 AFF4 AGA AGPAT2 AIP AKT1 ALG3 ALG6 ALG8 ALX3 AMN AMPD2 AP1S3 ARID1A ARSB ATP6V1B2 ATRX B9D1 B9D2 BAZ1B BCL7B BCR BMP4 BSCL2 BTK BUD23 C2CD3 CAV1 CAVIN1 CC2D2A CCDC22 CCDC47 CDC42BPB CDCA7 CDKN1C CEP120 CEP290 CLIC2 CLIP2 CLTRN COG1 COG7 COL11A1 COL11A2 COL2A1 COL7A1 CPLANE1 CPSF3 CRKL CRPPA CSNK2A1 CSNK2B CSPP1 CUBN CUL4B DDX59 DHCR7 DHX30 DLK1 DNAJC30 DNM1 DNMT3B DOK7 DUOX2 DUOXA2 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 ECEL1 ECM1 EDN1 EDNRA EHMT1 EIF4H ELN ENG ERLIN2 EXOSC3 FAM111A FAM149B1 FAM20C FBXO28 FDX2 FIBP FIG4 FKBP6 FKRP FLNA FOS FOXE1 FOXG1 FRAS1 FREM2 FRG1 FTO FUCA1 FZD2 GAA GATA1 GJB2 GLB1 GLI3 GMPPB GNAI3 GNE GNPTAB GNS GPC3 GPC4 GPR101 GRIK2 GRIP1 GSN GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C5 HELLS HESX1 HEXB HLA-B HLA-DRB1 HNRNPK HRAS HS2ST1 HYMAI IDS IDUA IFT140 IFT80 IGF2 IGHMBP2 IL36RN IL6ST INPP5E INSR IPO8 IYD KCNH1 KCNJ11 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KDM5C KIAA0753 KIF7 KLLN KMT2D KRT14 KRT5 KRT6A KY LAMA2 LARGE1 LHX3 LHX4 LIFR LIMK1 LIMS2 LMBRD1 LMNA LMNB1 LMNB2 MAN2B1 MAN2C1 MAPK1 MBD5 MCTP2 MED13L MED25 MEF2C MEG3 METTL27 MGAT2 MID1 MKS1 MLXIPL MMACHC MMP1 MORC2 MT-TE MYMK MYMX NCF1 NEFL NEK1 NEK9 NEU1 NFASC NFIX NKX2-1 NKX2-5 NOP56 NRXN1 NXN OCA2 OFD1 OPTN OTX2 P4HA2 PANK2 PAX8 PDE11A PDE6D PEX1 PEX16 PI4KA PIGB PIGS PIGW PIK3C2A PIK3CA PKP1 PLAGL1 PLCB4 PLXND1 POLR1B POLR1C POLR1D POMGNT1 POMK POMT1 POMT2 POP1 POU1F1 POU4F1 PPARG PQBP1 PRKAG2 PRKAR1A PROP1 PRR12 PRRX1 PSMB8 PTDSS1 PTEN PTH1R PTPN22 RAB3GAP1 RAB3GAP2 RALGAPA1 RBBP8 RBM10 RERE REV3L RFC2 RIPK4 RMRP RNF125 ROR2 RPGRIP1 RPGRIP1L RSPO2 RTL1 RUNX2 SBF2 SCNM1 SDHB SDHC SDHD SEC23B SET SETBP1 SGCG SH3TC2 SLC25A24 SLC26A4 SLC35B2 SLC35C1 SLC37A4 SLC39A4 SLC46A1 SLC52A3 SLC5A5 SLC6A19 SMARCA4 SMARCB1 SMO SNIP1 SNRPB SNRPN SNX14 SOX5 SOX9 SPTBN1 SPTLC1 SREBF1 SRPX2 STX1A TAF1 TBCK TBL2 TBX15 TBX22 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TG TGDS THRA TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TOPORS TPO TRAF3IP2 TRIM37 TRIP11 TRMU TSHB TSHR TXNDC15 UBE3A USF3 VAC14 VPS13A VPS13B VPS33A VPS37D WDR35 WNT10A WNT5A ZBTB24 ZFP57 ZMPSTE24 ZNF699 HP_ABNORMAL_TONGUE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_PHYSIOLOGY ADPRS AGTPBP1 AIFM1 ALS2 ASAH1 ATP11A ATP13A2 ATP1A2 CACNA1A CHCHD10 EDN1 EGR2 ELP1 EXOSC3 EXOSC8 EXOSC9 FRAS1 FXR1 GAA GIPC1 GNAI3 KCNK9 KIF1A LGI3 LRP12 MEGF10 MPZ MTPAP NDUFS4 NOP56 NOTCH2NLC NTRK1 OPTN PLCB4 PMP22 POLG PRRT2 PRUNE1 PRX RETREG1 RILPL1 RMND1 SBF2 SCN1A SCN9A SH3TC2 SLC25A21 SLC25A46 SLC39A4 SLC52A2 SLC52A3 SMN1 SMN2 SPTLC1 SYNGAP1 SYT2 TBCD TOE1 TRANK1 TSPYL1 TUBB4A UBA1 VCP VRK1 VWA1 WNK1 HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY AMER1 ANAPC1 CLCN5 CTC1 CYP27B1 CYP2R1 DKC1 DMP1 ENPP1 NHP2 NOP10 NOTCH2 NPM1 PARN PLCB3 PORCN PTH1R RECQL4 RTEL1 SLC29A3 SLC34A3 TCIRG1 TERC TERT TINF2 TNFRSF11A TNFRSF11B TRPV4 TYMS USB1 VDR WRAP53 HP_ABNORMAL_TRACHEAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEAL_MORPHOLOGY ADAMTSL2 AFF4 AHDC1 AMER1 ARNT2 ARSL B3GALT6 BAZ1B BCL7B BMPER BRCA1 BRCA2 BRIP1 BUB1 BUD23 CHD7 CLIP2 COL2A1 CTC1 CYBA CYBB CYBC1 DCHS1 DDR2 DDRGK1 DHCR7 DKC1 DNAJC30 EBP EHMT1 EIF4H ELN EMC1 ERCC4 ERF EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN2 FGF20 FGFR1 FGFR2 FKBP6 FLNB FOXF1 FOXI1 FRAS1 FREM2 GFRA1 GLMN GMNN GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HESX1 HK1 HOXD13 HRAS HYLS1 IDS IDUA ITGA8 KANSL1 KCNJ10 KIF22 KIF7 KMT2C LBR LIMK1 LMBRD1 LTBP3 LTBP4 MAD2L2 MAP3K7 METTL27 MGP MID1 MLXIPL MYCN MYRF NCF1 NCF2 NCF4 NHP2 NOP10 NOTCH3 NPM1 ORC4 ORC6 OTX2 PAICS PALB2 PARN PAX3 PCNT PDGFRB POLA1 POLG POLR1B POLR1C POLR1D PROKR2 PRRX1 RAB3GAP2 RAC1 RAD51 RAD51C RALGAPA1 RET RFC2 RFWD3 RMRP RPL5 RSPO2 RTEL1 SALL1 SCUBE3 SEMA3E SETD2 SLC12A2 SLC26A2 SLC26A4 SLX4 SMAD4 SNRPB SOX2 SOX3 SOX9 STX1A TBL2 TCOF1 TERC TERT TINF2 TMEM270 TONSL TRIM2 TRRAP TYMS UBA2 UBE2T USB1 USP9X VPS37D WBP11 WDR26 WNT3 WNT7A WNT9B WRAP53 XRCC2 ZEB2 ZIC3 ZNF699 HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY ABCA3 ADAMTSL2 AFF4 AGR2 AHDC1 ALDH18A1 AMER1 ARHGEF1 ARL2BP ARNT2 ARSL ATM ATP11A B2M B3GALT6 BACH2 BAZ1B BCL7B BLM BLNK BMPER BRAF BRCA1 BRCA2 BRIP1 BTK BTNL2 BUB1 BUD23 C1QB CARD10 CARD11 CARMIL2 CASP8 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CD81 CD8A CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP74 CFTR CHD7 CLCA4 CLIP2 COL2A1 COL4A5 COL4A6 CR2 CTC1 CTLA4 CXCR4 CYBA CYBB CYBC1 CYP2A6 DCHS1 DCTN4 DDR2 DDRGK1 DEAF1 DHCR7 DIAPH1 DICER1 DKC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DNMT3B DOCK8 DPP9 DRC1 DSP EBP EDNRA EGFR EHMT1 EIF4H ELN EMC1 EMILIN1 ERBB2 ERCC4 ERCC6 ERF EXTL3 FAM13A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FASLG FAT4 FBLN5 FBN2 FCGR2A FCHO1 FGF20 FGFR1 FGFR2 FKBP6 FLII FLNB FNIP1 FOXF1 FOXI1 FOXJ1 FRAS1 FREM2 GAS2L2 GAS8 GCLC GFRA1 GLMN GMNN GNPTAB GREB1L GRIP1 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HESX1 HFE HK1 HLA-DPB1 HLA-DRB1 HMOX1 HOXD13 HRAS HYDIN HYLS1 ICOS IDS IDUA IGHG2 IGHM IGKC IGLL1 IL10RB IL17RA IL21R IL2RG IL6ST IQSEC2 IRF1 IRF2BP2 IRF8 IRF9 ITGA8 KANSL1 KAT6A KCNJ10 KCNN4 KEAP1 KIF22 KIF7 KMT2C KRAS KRT14 KRT5 LAT LBR LIMK1 LMBRD1 LRBA LRRC56 LRRC8A LTBP3 LTBP4 MAD2L2 MAGT1 MALT1 MAP3K7 MAP3K8 MCIDAS METTL27 MGP MID1 MIF MLXIPL MPEG1 MS4A1 MUC5B MYCN MYH11 MYRF NBN NCF1 NCF2 NCF4 NCKAP1L NDUFA6 NEK10 NFKB1 NFKB2 NHP2 NME5 NME8 NOP10 NOTCH3 NPM1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORC4 ORC6 OTX2 PAICS PAK2 PALB2 PARN PAX3 PCNT PDGFRB PGM3 PI4KA PIK3CA PIK3CD PIK3R1 POLA1 POLE POLG POLR1B POLR1C POLR1D POR PPP2R1B PRKCD PRKN PROKR2 PRRX1 PTEN RAB3GAP2 RAC1 RAC2 RAD51 RAD51C RAI1 RALGAPA1 RASGRP1 RET RFC2 RFWD3 RFX7 RIN2 RIPK1 RMRP RPGR RPL5 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RTEL1 SALL1 SASH3 SCNN1A SCNN1B SCNN1G SCUBE3 SEMA3E SERPINA1 SETD2 SFTPA1 SFTPA2 SFTPC SLC11A1 SLC12A2 SLC22A18 SLC26A2 SLC26A4 SLC26A9 SLC29A3 SLC34A2 SLC39A7 SLC41A1 SLC6A14 SLC9A3 SLF2 SLX4 SMAD4 SMARCA2 SNRPB SOX2 SOX3 SOX9 SPAG1 SPEF2 SPI1 STAT1 STK36 STK4 STN1 STX1A STX3 SYK TAFAZZIN TAP1 TAP2 TAPBP TBL2 TCF3 TCOF1 TERC TERT TET2 TGFB1 TINF2 TMEM270 TNFRSF13B TNFRSF13C TNFRSF9 TNFSF12 TOM1 TONSL TP73 TPP2 TRIM2 TRRAP TTC12 TTC26 TYMS UBA2 UBE2T UNC119 USB1 USP26 USP9X VPS37D WBP11 WDR1 WDR26 WNT3 WNT7A WNT9B WRAP53 XRCC2 ZEB2 ZIC3 ZMYND10 ZNF341 ZNF699 HP_ABNORMAL_TRAGUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRAGUS_MORPHOLOGY DACT1 EFTUD2 GLI2 KAT6A KCTD1 NUP188 PIGN RNU4ATAC SALL1 SF3B2 SMCHD1 HP_ABNORMAL_TRANSFERRIN_SATURATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRANSFERRIN_SATURATION BCS1L BMP6 FTH1 FTL HAMP HFE HJV PKLR SLC25A38 SLC30A10 SLC40A1 STEAP3 TFR2 HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY AGGF1 ARVCF CCDC22 CHD7 CHST14 COL1A1 COL5A1 COL5A2 COMT COX7B DPYSL5 FBN1 FGFR1 FLNA FOXF1 FREM1 GATA1 GATA6 GP1BB HCCS HIRA IDS JMJD1C JPH2 KRAS MAP3K7 MMP21 MYCN MYH7 MYRF NDUFB11 NONO NXN PCGF2 PLD1 ROR2 RPS6KA3 RREB1 SEC24C TBX1 TMEM260 TPM1 UFD1 VPS35L WASHC5 YY1 HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY ABCC6 ACTC1 ADAMTS19 ADAMTSL2 AGR2 ALG9 ALPK3 ARL6 ARSB ATP6AP1 ATP6V1E1 ATRX CDH2 CHST14 CHST3 CITED2 CLIC2 COA6 COL1A2 COX6B1 COX7B CSGALNACT1 DAXX DLL4 DNMT3A DOHH DVL3 EXOSC5 FBN1 FKBP14 FLNA FLNC FNIP1 GATA4 GATA6 HADHA HADHB HCCS HEPHL1 KIF20A LMOD2 MEGF8 MTX2 MYCN MYH6 MYH7 MYPN MYSM1 NCAPG2 NDUFB11 NEK1 NKX2-5 NONO PEX2 PLD1 PPP1CB PRKAR1A RAD21 RNF2 RPL3L RPS19 SCN4A SCN5A SDHD SLC25A24 SLC31A1 TAB2 TAFAZZIN TBX20 TLL1 TNNC2 TNNI3 TNNT2 TTC26 TXNDC15 VPS33A WDR37 HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY DCDC2 MUC1 NPHP1 TMEM67 XPNPEP3 HP_ABNORMAL_T_CELL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_MORPHOLOGY ACP5 ADA AP3B1 ATM ATP6AP2 BCL10 BCL11B BLM BLNK BTK BTNL2 CARD11 CARD9 CASP10 CASP8 CD19 CD247 CD3D CD3E CD3G CD4 CD79A CD79B CD81 CD8A CIITA CR2 CTNNBL1 CTPS1 DCLRE1C DEF6 DIAPH1 DNMT3B DOCK2 DOCK8 EPG5 EXTL3 FAS FASLG FCHO1 FOXN1 FOXP3 GATA2 HLA-DPB1 HLA-DRB1 ICOS IGLL1 IKBKB IKBKG IL21 IL2RA IL2RB IL2RG IL7 IL7R IRAK4 ITK IVNS1ABP JAK3 KNSTRN LAT LCK LCP2 LEP LEPR LIG1 MAGT1 MCM10 MS4A1 MYC MYD88 NBN NCKAP1L NFKBIA NHEJ1 NSMCE3 OTULIN PGM3 PIK3CD PIK3CG PIK3R1 PNP POMP PRKCD PRKDC PTPRC RAC2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RHOH RIPK1 RPA1 SASH3 SH2D1A SMARCAL1 SP110 STAT1 STN1 SYK TBX2 TCF3 TNFRSF13B TNFRSF13C TOM1 UNC119 WAS WDR1 WIPF1 XIAP ZAP70 HP_ABNORMAL_T_CELL_PROLIFERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_PROLIFERATION CARD11 CD3E CTPS1 DOCK2 LCP2 LIG1 MRTFA NSMCE3 PGM3 RAG1 RAG2 RASGRP1 TGFB1 WIPF1 HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION AP3B1 ATM ATP6AP2 BCL10 BCL11B BLM CARD11 CARD9 CASP10 CASP8 CD247 CD3D CD3E CD3G CD4 CD8A CIITA CTNNBL1 CTPS1 DCLRE1C DEF6 DIAPH1 DOCK8 EPG5 EXTL3 FAS FASLG FOXN1 FOXP3 GATA2 HLA-DPB1 IKBKB IL2RA IL2RB IL2RG IL7R ITK IVNS1ABP KNSTRN LAT LCK LCP2 LEP LEPR LIG1 MAGT1 MYC NCKAP1L NSMCE3 OTULIN PGM3 PIK3CD PIK3CG PIK3R1 PNP POMP PRKCD RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RHOH SASH3 SMARCAL1 SYK TCF3 TOM1 UNC119 WAS WDR1 WIPF1 ZAP70 HP_ABNORMAL_T_WAVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_WAVE AKAP9 ALG10B ANK2 ATP1A2 ATP1A3 BRF1 CACNA1A CACNA1C CALM1 CALM2 CALM3 CAV3 CLCNKB CLN3 DCAF17 GYG1 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 MECP2 MYL2 MYL3 NOS1AP PRKAG2 RYR1 SCN10A SCN4B SCN5A SLC12A3 SLC1A3 SNTA1 TBX5 TRDN HP_ABNORMAL_ULNAR_METAPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ULNAR_METAPHYSIS_MORPHOLOGY ANAPC1 COL10A1 COL2A1 COMP MAGEL2 MMP13 MMP9 NDN RECQL4 SNRPN HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING F10 F13A1 F13B F2 FGA FGB FGG SERPINF2 HP_ABNORMAL_UMBILICUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICUS_MORPHOLOGY AARS1 ABCC8 ABCC9 ACTG2 ADAMTS2 ADNP AEBP1 AGA AGPAT2 ALDH18A1 ANTXR1 APC2 ARID1B ARSB ARVCF ARX ATAD1 ATP6V0A2 ATP7A ATRX AUTS2 B3GLCT BAZ1B BCL11B BCL7B BCOR BGN BMP1 BRCA1 BRCA2 BRIP1 BSCL2 BUD23 C1R C1S CARS1 CASK CAVIN1 CCBE1 CDCA7 CDH11 CDKL5 CHAMP1 CHD3 CHD7 CHRNG CHST14 CLDN19 CLIP2 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT COX11 CREBBP CSNK2A1 DGCR2 DGCR6 DGCR8 DICER1 DLK1 DLL3 DMXL2 DNAJC30 DNMT3A DNMT3B DUOX2 DUOXA2 DVL1 DVL3 EED EFNB1 EHMT1 EIF4H ELMO2 ELN EN1 EOGT ERCC2 ERCC3 ERCC4 ESS2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBXW11 FGD1 FGFR2 FKBP14 FKBP6 FLNA FOCAD FRAS1 FREM2 FTO FZD2 GATA6 GJA1 GLI3 GLIS3 GLRA1 GLRB GMNN GNAO1 GNPTAB GP1BB GPC3 GPC4 GPC6 GPHN GRIN1 GRIP1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB GZF1 H19 H4C3 HDAC4 HELLS HES7 HESX1 HIRA HIVEP2 HSPG2 HYMAI IDS IDUA IFT140 IGF2 IKBKG IPO8 IRF6 ISL1 IYD JMJD1C KAT6A KCNA1 KCNH1 KCNJ11 KCNJ8 KDM3B KIF7 KMT2C KNSTRN KRT1 LBR LFNG LHX3 LHX4 LIMK1 LMNA LMOD1 LRP2 LTBP4 MAD2L2 MAN2B1 MAPRE2 MASP1 MBTPS2 MED12 MED13L MEG3 MEGF8 MESP2 METTL27 MID1 MLXIPL MPLKIP MSX1 MTOR MYH11 MYH3 MYLK NAA10 NALCN NCF1 NECTIN1 NEU1 NEUROD2 NFIX NIPBL NKX2-5 NOTCH1 NOTCH2 NOTCH3 NSD1 NSDHL NXN OCLN OCRL PACS1 PALB2 PAX8 PHGDH PIGL PIGP PIGQ PIGS PIGW PIK3CD PLAGL1 PLOD1 PNKP POLR3GL PORCN POU1F1 PPP2CA PRDM5 PRKG2 PROP1 PRR12 PTCH1 RAB23 RAC1 RAD51 RAD51C RFC2 RFWD3 RFX7 RIN2 RIPK4 RIPPLY2 RNF113A RNF2 ROR2 RREB1 RTL1 SALL1 SCN1B SCN2A SEC24C SEC31A SETBP1 SETD2 SGSH SH3PXD2B SHANK3 SIK1 SKI SLC25A22 SLC25A24 SLC26A2 SLC2A10 SLC32A1 SLC35C1 SLC35D1 SLC5A5 SLC6A5 SLX4 SMAD3 SMARCA2 SMARCB1 SNIP1 SOX6 SPECC1L SRCAP STX1A SUZ12 TARS1 TBL2 TBX1 TENT5A TFE3 TG TGDS TGFBR2 TMEM270 TMEM70 TOR1A TP63 TPO TRAF7 TRIM8 TRIP11 TRPV6 TRRAP TSHB TSHR TUBB TWIST2 UBE2T UFD1 VPS37D WNT5A XRCC2 ZBTB24 ZBTB7A ZFP57 ZMPSTE24 HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY ACAN ACVR1 ADAMTS10 ADAMTSL2 ADNP AFF3 AFF4 AGA AGPS AKT1 ALG12 ALX4 AMMECR1 ANAPC1 ANKRD55 APC ARHGAP31 ARID1B ASAH1 ASXL1 ASXL2 ATL3 ATP7A ATR B2M B3GALT6 B3GAT3 B3GLCT B4GALT7 BANF1 BAZ1B BCL7B BCOR BGN BHLHA9 BICRA BMP1 BMP2 BMP6 BMPR1A BMPR1B BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRIP1 BUD23 CANT1 CBFB CBL CCDC8 CCNQ CD247 CD96 CDC45 CDKL5 CHD7 CHN1 CHRNG CHST3 CHSY1 CILK1 CLCN3 CLCN7 CLIP2 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMP CPLANE1 CPLX1 CREB3L1 CREBBP CSGALNACT1 CSPP1 CTBP1 CTSC CTSK CUL7 CWC27 CYP26B1 DACT1 DCHS1 DDR2 DHCR7 DHODH DHX30 DLK1 DLL4 DNAJC30 DNM1L DNMT3A DOCK6 DONSON DVL1 DVL3 DYM DYNC2H1 EED EIF4A3 EIF4H ELN EOGT EP300 ERCC1 ERCC4 ESCO2 EXOC6B EXOSC2 EXT1 EXT2 EXTL3 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBN1 FBXL3 FERMT1 FGF10 FGF16 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FKBP6 FLNA FLNB FMR1 FZD2 G6PC3 GALNS GATA4 GATAD2B GDF5 GJA5 GJA8 GJB6 GLB1 GLI3 GNAS GNAS-AS1 GNPAT GNPTAB GPC3 GPC4 GPC6 GPX4 GSC GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H3-3B HDAC4 HDAC8 HFE HHAT HNRNPR HOXA11 HOXA13 HOXD13 HPGD HS2ST1 IFIH1 IFITM5 IFT122 IFT140 IFT27 IFT43 IFT52 IFT80 IFT81 IHH IL2RA IL2RB INPP5K INPPL1 INTU JAG1 KAT6B KCNH1 KCNJ2 KCTD1 KIAA0586 KIAA0753 KIF1A KIF22 KIF7 KL KNSTRN KRAS L1CAM LAMA5 LBR LETM1 LIG4 LIMK1 LMBR1 LMNA LMX1B LONP1 LRP4 LRP5 LTBP3 LYSET LZTR1 MACROH2A1 MAD2L2 MAF MAFB MAGEL2 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MASP1 MATN3 MECOM MED12 MEG3 MEGF8 MEIS2 METTL27 MKKS MLXIPL MMP13 MMP14 MMP2 MMP9 MRAS MSX2 MTHFS MTX2 MYH3 MYL11 MYSM1 NALCN NCF1 NDN NEK1 NEPRO NFIX NHS NIPBL NOG NONO NOTCH1 NOTCH2 NPR2 NPR3 NRAS NSD1 NSD2 NSUN2 NXN OBSL1 OFD1 OTUD6B P3H1 PACS1 PALB2 PCDHGC4 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PEX5 PEX7 PHYH PIEZO2 PIGS PIGT PIK3CD PITX1 PLXND1 POC1A POGZ POLR3A POR PORCN PQBP1 PRG4 PRKAR1A PRKD1 PRKG2 PRMT7 PSMD12 PTCH1 PTDSS1 PTEN PTH1R PTHLH PTPN11 PTPN2 PTPN22 PUF60 PYCR2 RAB23 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RASA2 RBM10 RBM8A RBPJ RECQL4 RETREG1 REV3L RFC2 RFWD3 RIGI RIPK4 RIT1 RLIM RMRP RNF13 RNU4ATAC ROBO1 ROR2 RPL26 RPS19 RPS6KA3 RRAS RRAS2 RSPO2 RSPRY1 RTL1 RUNX2 SALL1 SALL4 SAMD9 SATB2 SCARF2 SCN9A SETBP1 SETD5 SF3B4 SH3PXD2B SHH SHOX SIAH1 SIL1 SKI SLC25A24 SLC26A2 SLC39A13 SLX4 SMAD6 SMARCA2 SMC1A SMC3 SMO SMOC1 SNIP1 SNRPB SNRPN SOS1 SOS2 SOX9 SPARC SPRED2 SRCAP SRY STAT4 STX16 STX1A SUCLG1 SUMF1 SUZ12 SVBP TAPT1 TBL2 TBX15 TBX22 TBX3 TBX5 TCF12 TCTN3 TFE3 TGDS TGFB1 TMEM216 TMEM270 TMEM67 TNFRSF11A TNFRSF11B TNNI2 TNNT3 TONSL TOPORS TP63 TPM2 TRIO TRIP11 TRPM3 TRPS1 TRPV4 TTC26 TWIST1 TWIST2 UBE2T USP9X VAC14 VPS13B VPS35L VPS37D WDR19 WLS WNK1 WNT5A WNT7A XRCC2 XYLT1 ZIC1 ZIC3 ZMPSTE24 ZNF141 ZNF668 HP_ABNORMAL_UPPER_LIMB_METAPHYSIS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_METAPHYSIS_MORPHOLOGY ANAPC1 COL10A1 COL2A1 COMP EZH2 GNAS MAGEL2 MMP13 MMP9 NDN PHEX RECQL4 RPL13 SNRPN STX16 TRAPPC2 TRPV4 HP_ABNORMAL_UPPER_LIP_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIP_MORPHOLOGY AARS1 AASS ABCC8 ABCC9 ABL1 ACER3 ACTA1 ACTB ACTG1 ADAMTS3 ADAMTSL1 ADAMTSL2 ADARB1 ADGRG6 ADNP ADSL AFF2 AFF3 AFF4 AGL AGO1 AGO2 AGR2 ALDH6A1 ALG11 ALG12 ALG13 ALG8 ALG9 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANKLE2 ANKRD11 ANKRD17 ANO1 ANTXR1 AP1G1 AP1S2 AP2M1 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARNT2 ARSK ARVCF ARX ASH1L ASPM ASXL1 ASXL2 ASXL3 ATG7 ATIC ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATRX AUTS2 AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 BAP1 BAZ1B BCAS3 BCL11A BCL11B BCL7B BCOR BCR BMP1 BMP2 BPTF BRAF BRAT1 BRCA1 BRCC3 BRD4 BRF1 BRPF1 BUB1 BUB1B BUD23 C12orf57 CACNA1A CACNA1C CACNA2D1 CAMK2G CAMSAP1 CAMTA1 CANT1 CASK CASZ1 CBL CC2D2A CCBE1 CCDC22 CCDC8 CCNK CCNQ CD96 CDC42 CDC42BPB CDC6 CDH1 CDH11 CDH2 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CDKL5 CDON CENPE CENPJ CEP120 CEP135 CEP152 CEP63 CERT1 CHAMP1 CHD2 CHD5 CHD7 CHD8 CHMP1A CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CIT CKAP2L CLCF1 CLCN3 CLCN6 CLIC2 CLIP2 CLP1 CLTC CNOT1 CNOT2 CNOT3 COG1 COG7 COL11A1 COL11A2 COL2A1 COL3A1 COLEC10 COLEC11 COMT COPB2 COX7B CPLANE1 CPLX1 CREBBP CRKL CRLF1 CRTAP CSF1R CSGALNACT1 CSNK2A1 CSNK2B CTBP1 CTCF CTNNB1 CTNND1 CUL4B CUL7 CUX1 CYFIP2 CYP26C1 DCHS1 DCPS DDB1 DDR2 DDX3X DDX59 DDX6 DEAF1 DENND5A DHCR7 DHODH DHPS DHX30 DHX37 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLX4 DMPK DNAJC30 DNMT3A DOCK7 DPF2 DPM1 DPM2 DPYD DPYSL5 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP EDA EDA2R EDAR EDARADD EDEM3 EED EEF1A2 EFNB1 EFTUD2 EHMT1 EIF2S3 EIF4H EIF5A ELN EMC1 EP300 EPB41L1 EPG5 ERCC1 ERCC6 ERLIN2 ERMARD ESCO2 EVC EVC2 EXOC2 EXOC7 EXOSC1 EXOSC2 EXT1 EXT2 EXTL3 EZH2 FAM20C FAR1 FAT4 FBN1 FBXO11 FBXO28 FGD1 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FIG4 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FOXA2 FOXC2 FOXG1 FOXH1 FOXL2 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FZD2 GABRD GAD1 GALNT2 GAS1 GATAD2B GBA1 GDF11 GFRA1 GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLIS3 GMPPA GNAI1 GNB1 GNB2 GNE GNPTAB GOLGA2 GP1BB GPC3 GPC4 GPC6 GREB1L GRHL3 GRIA3 GRIA4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C11 H4C3 H4C5 H4C9 HDAC6 HDAC8 HECTD4 HERC2 HES7 HESX1 HIC1 HIRA HIVEP2 HK1 HNRNPH2 HNRNPK HNRNPU HOXB1 HOXD13 HPDL HRAS HS2ST1 HSD17B4 HSPG2 HUWE1 HYLS1 IARS2 IDH1 IER3IP1 IFIH1 IFT140 IFT43 IFT57 IFT80 IFT81 IGF1R IL1RAPL1 IL6ST INPPL1 INTS1 INTU IQSEC2 IREB2 IRF6 IRX5 ITCH ITGA8 JARID2 JMJD1C JUP KANSL1 KARS1 KAT5 KAT6A KAT6B KATNB1 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KDF1 KDM1A KDM3B KDM4B KDM5B KDM5C KIAA0753 KIDINS220 KIF11 KIF14 KIF15 KIF1A KIF26A KIF7 KIFBP KIT KLHL41 KMT2A KMT2D KNL1 KRAS LARGE1 LARP7 LAS1L LEMD2 LETM1 LFNG LHX4 LIMK1 LMBRD1 LMNB1 LMX1B LRP4 LRRC32 LTBP1 LTBP3 LTBP4 LUZP1 MAB21L1 MAB21L2 MADD MAF MAGEL2 MAN1B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MASP1 MBD5 MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED13 MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MEOX1 MESD MESP2 METTL23 METTL27 METTL5 MFSD2A MGAT2 MGP MICU1 MID1 MID2 MINPP1 MKRN3 MKS1 MLXIPL MMACHC MMP23B MOCS1 MOCS2 MPC1 MRPS28 MSL3 MSX1 MSX2 MTOR MTX2 MUSK MYH3 MYH8 MYL2 MYMK MYMX MYO18B MYOD1 NAA10 NAA20 NALCN NARS2 NBAS NBN NCAPD3 NCAPG2 NCF1 NDN NEB NECTIN1 NEK1 NEK9 NELFA NEXMIF NF1 NFIA NFIB NFIX NIPBL NKAP NLRP1 NODAL NOG NONO NOTCH2 NOTCH3 NOVA2 NPAP1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NUAK2 NUP107 NUP37 NXN OBSL1 OCA2 OCLN OCRL ODC1 OFD1 OGT OPHN1 ORC4 OSTM1 OTUD6B OTX2 PACS1 PACS2 PAFAH1B1 PAH PAK3 PAM16 PARS2 PAX3 PBX1 PCDHGC4 PCGF2 PCLO PDCD6IP PDE4D PDGFRB PDHA1 PDPN PEX26 PGAP2 PGAP3 PGM2L1 PHC1 PHF21A PHF8 PHGDH PHIP PIEZO2 PIGB PIGG PIGK PIGL PIGN PIGO PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CA PITX2 PKDCC PLAA PLCH1 PLPBP PMM2 POC1A POGZ POLR1B POLR1C POLR1D POLR3A POLR3GL POMT1 POMT2 POR PORCN POU1F1 POU4F1 PPM1D PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PPP2R5D PPP3CA PQBP1 PRDM16 PRDX1 PREPL PRIM1 PRKACA PRKACB PRKAR1B PRKCZ PRKDC PRMT7 PROKR2 PROP1 PSMC3 PSMD12 PTCH1 PTEN PTH1R PTPRF PTRH2 PUF60 PURA PUS1 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAB5IF RAC3 RAD21 RAI1 RALA RAPSN RECQL RECQL4 RERE RET RFC2 RFX7 RHOBTB2 RIC1 RIN2 RIPK4 RIPPLY2 RNF135 RNF2 RNU4ATAC ROBO1 ROR2 RPGRIP1L RPL10 RPL5 RPS19 RPS7 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUNX2 RYR1 SARS1 SASS6 SATB1 SATB2 SC5D SCN1A SCN4A SEC23A SEC24C SEMA3E SETBP1 SETD1A SETD5 SF3B2 SF3B4 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIM1 SIN3A SIX3 SKI SKIC3 SLC1A3 SLC25A24 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC35A1 SLC35A2 SLC35C1 SLC45A1 SLC6A1 SLC6A17 SLC9A7 SLF2 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMO SMOC1 SMPD4 SMS SNAI2 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SON SOX11 SOX4 SOX9 SPATA5L1 SPECC1L SPEN SPOP SPRED2 SPTBN1 SRCAP SSR4 STAG2 STEEP1 STIL STIM1 STRADA STT3A STX1A STXBP1 SUFU SUMF1 SUMO1 SUPT16H SUZ12 SYNE1 SYNGAP1 SYT1 TAB2 TAF1 TAF13 TAF6 TAF8 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL1XR1 TBL2 TBR1 TBX1 TCF20 TCF3 TCF4 TCOF1 TCTN2 TCTN3 TDGF1 TENM3 TET3 TFAP2A TFAP2B TGDS TGFB3 TGIF1 THOC6 THSD1 THUMPD1 TLK2 TMCO1 TMEM147 TMEM237 TMEM270 TMEM53 TMEM70 TMEM94 TMLHE TNNI2 TNPO2 TNRC6B TOE1 TOR1A TP63 TPM3 TPR TRAPPC10 TRAPPC14 TRAPPC4 TRAPPC9 TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRPM3 TRPS1 TRRAP TSPAN7 TTC5 TUBB TUBGCP2 TWIST1 TWIST2 TXNL4A UBE2A UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UGDH UGP2 UNC80 UPF3B USB1 USP9X VAC14 VAX1 VPS13B VPS35L VPS37D VPS51 WAC WARS1 WARS2 WASHC4 WDR19 WDR26 WDR35 WDR37 WDR4 WDR62 WLS WNT3 WNT4 WNT5A WNT9B WWOX XYLT1 XYLT2 YAP1 YARS2 YWHAE YY1 ZBTB18 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZMIZ1 ZNF148 ZNF292 ZNF407 ZNF462 ZNF526 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY ALDH18A1 ALS2 CHCHD10 ERLIN2 FUS GBE1 MATR3 PNPLA6 SPG7 SQSTM1 TARDBP TBK1 TYROBP VCP HP_ABNORMAL_URETER_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_MORPHOLOGY ACTB ACTG1 ACTG2 ALG9 APC2 APRT AQP2 ARID1B ARX AVPR2 AXIN1 B3GLCT B9D1 B9D2 BBS12 BCOR BRCA1 BRCA2 BRIP1 CASK CC2D2A CCNQ CDKL5 CEP290 CEP55 CHRM3 COL18A1 CPT2 CSPP1 DDB1 DMXL2 DYNC2LI1 EDNRA EPG5 ERCC4 ERCC6 ERCC8 EVC EVC2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FIBP FLNA FOXF1 FREM2 FUZ GATA6 GLI1 GLI3 GNAO1 GPC3 GPC4 GRIN1 GRIP1 GRM7 HNF1B HPSE2 HS2ST1 IFT140 ITGA6 ITGB4 KCNA1 KCTD1 KIF14 LAMA3 LAMB3 LAMC2 LHX1 LMNA LMOD1 LONP1 MAD2L2 MAPRE2 MBTPS2 MED12 MKKS MKS1 MYH11 MYLK NAA10 NADSYN1 NCAPG2 NDUFAF3 NEUROD2 NODAL NPHP3 NSD1 PAK2 PALB2 PBX1 PEX6 PIEZO2 PIGN PIGP PIGQ PIGT PLD1 PLEC PNKP PORCN PRKACA PRKACB PRPS1 PSMD12 RAB23 RAD51 RAD51C RBM8A RFWD3 RIPK4 RNU4ATAC RPGRIP1 RPGRIP1L SCN1B SCN2A SETBP1 SETD2 SIK1 SLC22A12 SLC25A22 SLC32A1 SLC6A17 SLX4 SMC3 SOS1 SOS2 SOX17 SPINT2 TBX18 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TP63 TRIM8 TXNDC15 UBE2T VANGL1 WFS1 XRCC2 ZMPSTE24 HP_ABNORMAL_URETER_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_PHYSIOLOGY ACTG2 AFF4 ANKLE2 APC2 ARNT2 ARVCF ASPM ASXL1 ATP7A ATRX BAZ1B BCL7B BICC1 BNC2 BPTF BRD4 BRF1 BUD23 CCBE1 CCNQ CDC45 CDH11 CDK5RAP2 CDK6 CDKN1C CENPE CENPJ CEP135 CEP152 CEP63 CHD4 CHD7 CHRM3 CHRNA3 CIT CLIP2 COL18A1 COMT COPB2 CREBBP CTLA4 DACT1 DCDC2 DDX6 DHCR7 DNAJC30 DNMT3A DSTYK DVL3 EBF3 EFEMP2 EHMT1 EIF4H ELN EP300 EXT1 EYA1 FANCF FANCI FBLN5 FGF10 FGFR2 FGFR3 FKBP6 FLNA FUZ GATA3 GNB1 GP1BB GREB1L GRHPR GTF2I GTF2IRD1 GTF2IRD2 H4C9 HAAO HDAC8 HIRA HLA-DPA1 HLA-DPB1 HNF1B HNRNPK HNRNPU HOXA13 HPSE2 HSPA9 IGF2 ISL1 JAG1 JMJD1C KANSL1 KAT5 KCNQ1 KCNQ1OT1 KDM6A KIF14 KIFBP KMT2C KMT2D KNL1 LAMA3 LAMB3 LAMC2 LIMK1 LRIG2 LTBP1 MAP3K7 MAPKAPK5 MAPKBP1 MBTPS2 MCM7 MCPH1 MED12 METTL27 METTL5 MFSD2A MID1 MLXIPL MNX1 MYCN MYOD1 NCAPD3 NCAPG2 NCF1 NFIA NIPBL NKX2-1 NODAL NRIP1 NSD1 NUP37 OTUD5 PAK2 PAX2 PAX6 PBX1 PHC1 PIGA PIGL PIGN PIGO PIGQ PIGT PLXNA1 POLR3A POR PPP3CA PRMT7 PRTN3 PSMD12 PTPN22 PUF60 PYCR2 RAD21 RALGAPA1 RARB RBCK1 RBM8A RECQL4 RERE RFC2 ROBO2 RPL11 RREB1 SALL1 SALL4 SARS1 SASS6 SDHA SDHAF1 SDHB SDHD SEC24C SEMA3E SETBP1 SETD2 SF3B2 SH2B1 SHANK3 SIX1 SIX5 SLC26A1 SLC35A2 SMC1A SMC3 SOX17 SPOP STAMBP STIL STRA6 STX1A TAF13 TBL2 TBX1 TBX18 TMEM270 TNXB TP63 TRAPPC10 TRAPPC14 TRPS1 TRRAP UBE2A UFC1 UFD1 UNC45A VANGL1 VPS37D WARS1 WDR62 WNT7B YY1 ZEB2 ZMIZ1 ZMYM2 HP_ABNORMAL_URINARY_COLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_COLOR ABCC2 AKR1D1 ALAD ATP11C BLVRA CLTRN CPOX CPT2 DMD GATA1 HMBS IRAK1 LPIN1 MT-CO1 MT-CO3 OBSCN PYGM SAT1 SLC6A19 SPP1 STAT4 TSC1 TSC2 TTC26 UROD UROS HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION ABCC6 ADCY10 ALDOB ALG5 ALG9 ALPL AMMECR1 AP2S1 ATP1A1 ATP6V0A4 ATP7B AVPR2 BAZ1B BCL7B BICC1 BSND BTNL2 BUD23 CACNA1S CASR CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CFTR CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 COA8 CTNS CYP11A1 CYP11B1 CYP11B2 CYP21A2 CYP24A1 DCDC2 DMP1 DNAJB11 DNAJC30 EHHADH EIF4H ELN ENPP1 FAM20A FCGR2A FGF23 FKBP6 FXYD2 GABRA3 GANAB GATM GCM2 GNA11 GNAS GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 HNF1B HNF4A HRAS HSD11B2 HSD3B2 IFT122 IFT140 INPPL1 INSR KCNJ1 KCNJ10 KCNJ16 KCNJ18 KCNJ5 KRAS LIMK1 MAGED2 MC2R MEN1 METTL27 MLXIPL MRAP MT-TN MT-TS1 MUC1 NCF1 NDUFAF6 NHERF1 NNT NR0B1 NRAS OCRL PHEX PIGT PIK3C2A PKD1 PKD2 PTH1R RFC2 SARS2 SCNN1A SERPINA6 SLC12A1 SLC12A3 SLC22A12 SLC2A2 SLC2A9 SLC34A1 SLC34A3 STAR STX1A SURF1 TBL2 TGFB1 TMEM270 TMEM67 TNFRSF11B TXNRD2 VPS37D HP_ABNORMAL_URINARY_NUCLEOBASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_NUCLEOBASE_CONCENTRATION ATIC CHUK DPYD DPYS SLC28A1 HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION AASS ALDH4A1 ATP6V1B2 COX16 DLD GLUD1 NFU1 OGDH PIGB SDHB SLC13A3 SLC25A1 TBC1D24 TPK1 HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL ACVR1B APC CASP10 DCXR ERBB2 FBP1 FGFR2 FOXP2 FUCA1 GAA GALE GALK1 GALT GK GLB1 IL1B IL1RN IRF1 KHK KLF6 KRAS KRT18 MAN2B1 MANBA MUTYH NEU1 OCRL PIK3CA RPIA SHPK SKIC3 SLC25A13 SMAD4 SNX14 STK11 TKT TP53 HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACSF3 AGK ALAD ALDH5A1 ALDH6A1 ARG1 ASL ASS1 ATAD3A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 AUH BCKDHA BCKDHB CA5A CAD CD320 CLPB COX16 CPOX CPT1A CPT2 D2HGDH DBT DHTKD1 DNAJC19 ETFA ETFB ETFDH ETHE1 FDX2 FH FOCAD FTCD GATA1 GCDH HADH HCFC1 HGD HLCS HMBS HMGCL HPD HSPD1 HTRA2 IDH1 IDH2 KIF1B L2HGDH LETM1 LMBRD1 MCCC1 MCEE MICOS13 MLYCD MMAA MMAB MMACHC MMADHC MMUT MT-ATP6 MT-ATP8 MT-TL1 MTR MTRR MVK NDUFB10 NDUFS4 NFU1 NGLY1 OPA3 OTC OXCT1 PAH PCCA PCCB PEX14 POLG PPOX PRDX1 RET SCO1 SDHA SERAC1 SFXN4 SLC13A3 SLC18A2 SLC22A5 SLC25A1 SLC25A15 SLC25A20 SLC52A1 SLC7A7 SUCLA2 SUCLG1 SUGCT TAFAZZIN TAT TCN2 TFAM TIMM50 TMEM70 TRMU UMPS UROC1 UROS HP_ABNORMAL_URINE_CYTOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CYTOLOGY ACP5 ACSL4 ACVRL1 ADAMTS13 AGGF1 AGXT ALG5 ALG9 AMMECR1 APOA1 APRT B2M BANK1 BCOR BICC1 BLK BRCA2 C3 C4A C4B CD109 CD2AP CD46 CD81 CFB CFH CFHR5 CFI CLCN5 CLDN16 CLDN19 CLEC7A COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 CR2 CTLA4 CTNS CUBN DIS3L2 DLST DNAJB11 DNASE1 DNASE1L3 DNMT3A DPH1 ENG EPAS1 ETS1 F10 F2 F5 F8 FAN1 FCGR2B FCGR3B FGA FH FIP1L1 FN1 GANAB GATA3 GBA1 GDF2 GLA GP1BA GP1BB GP9 GPC3 GRHPR H19 HBB HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HNF1B HOGA1 HPRT1 IFT140 IGHG1 IL10 IL17F IL17RA IL17RC INF2 IRAK1 IRF2BP2 IRF5 ITGA2 ITGA2B ITGA6 ITGAM ITGB3 ITGB4 JAZF1 KANK2 KCNE5 KIAA0319L KIF1B LARS2 LMAN1 LMNB2 LMX1B LPIN2 LYZ MAX MCFD2 MDH2 MECP2 MMACHC MYO1E NABP1 NF1 NOS1AP NOTCH2 NPHP3 NPM1 NUMA1 NUP133 NUP85 NUP93 OCRL P4HA2 PAX2 PBX1 PDCD1 PFKM PKD1 PKD2 PML POU6F2 PRDX1 PRKAR1A PRTN3 PTPN22 PXK RARA REST RET SAT1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SERPINF2 SLC22A12 SLC25A11 SLC2A9 SLC34A2 SLC37A4 SLC5A1 SMAD4 SMARCAL1 SPP1 SPRY2 SPTBN1 SREBF1 STAT3 STAT4 STAT5B STIM1 TBL1XR1 THBD TLR7 TMEM127 TNFAIP3 TNFSF4 TNIP1 TRAF3IP2 TREX1 TRIM28 TRIP13 TSC1 TSC2 UBE2L3 UMPS VHL WT1 YAP1 ZBTB16 HP_ABNORMAL_URINE_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_HORMONE_LEVEL ARMC5 ATRX BRAF CDH23 CDKN1B CDKN2A CTNNB1 CYP11B1 CYP17A1 GNAS NR3C1 PRKAR1A TERT TP53 USP48 USP8 ZNRF3 HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION ATP1A1 CASR CLDN16 CLDN19 FXYD2 GNA11 IFT122 KCNJ10 SLC12A3 HP_ABNORMAL_URINE_METABOLITE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_METABOLITE_LEVEL AASS ABCC8 ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACP5 ACSF3 ACSL4 ACTN4 ACVR1B ADAMTS13 AGA AGK AGXT2 ALAD ALDH4A1 ALDH5A1 ALDH6A1 ALDOA ALDOB ALG5 ALG9 ALK ALPL AMMECR1 AMN AMT ANKFY1 ANLN ANO5 APC APOA1 APOE APOL1 APPL1 APRT ARG1 ARHGAP24 ARHGDIA ARSB ARSK ASL ASPA ASPH ASS1 ATAD3A ATIC ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATP7B ATPAF1 ATPAF2 AUH B2M BANK1 BAZ1B BCKDHA BCKDHB BCL7B BCS1L BICC1 BLK BSND BUD23 C3 C4A C4B CA5A CACNA1S CAD CAMKMT CASK CASP10 CASR CBS CCND1 CD2AP CD320 CD46 CD59 CD81 CEL CFB CFH CFI CHUK CLCN5 CLCNKA CLCNKB CLDN16 CLIP2 CLPB CLTRN COA8 COL2A1 COL4A3 COL4A4 COL4A5 COL4A6 COQ2 COQ6 COQ8B CORIN COX14 COX16 CPOX CPS1 CPT1A CPT2 CR2 CRB2 CRPPA CTH CTLA4 CTNS CUBN CYC1 CYP27B1 CYP2R1 D2HGDH DAAM2 DBH DBT DCXR DDB2 DDOST DGKE DGUOK DHTKD1 DLD DLST DMD DMGDH DNAJB11 DNAJC19 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPH1 DPYD DPYS EHHADH EIF4H ELN EMP2 EPAS1 ERBB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ETFA ETFB ETFDH ETHE1 ETS1 EXT2 FAH FAN1 FARS2 FBP1 FCGR2B FCGR3B FDX2 FGA FGFR2 FH FKBP6 FKRP FLT1 FMO3 FN1 FOCAD FOXC2 FOXP2 FTCD FUCA1 G6PC1 G6PD GAA GALE GALK1 GALNS GALT GANAB GAPVD1 GATA1 GATA3 GATA6 GATM GBA1 GCDH GCK GCLC GEMIN4 GGT1 GK GLA GLB1 GLDC GLUD1 GLYCTK GNE GNPTAB GNPTG GNS GON7 GPHN GSN GSS GTF2I GTF2IRD1 GTF2IRD2 GUCY2D GUSB GYS2 HACE1 HADH HADHA HADHB HAL HCFC1 HELLPAR HGD HGSNAT HIBCH HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS HMBS HMGCL HMOX1 HNF1A HNF1B HNF4A HPD HPRT1 HSD17B10 HSPD1 HTRA2 IBA57 IDH1 IDH2 IDS IDUA IER3IP1 IFT140 IFT172 IGHG1 IL10 IL1B IL1RN INF2 INS IRAK1 IRF1 IRF5 ISCU ITGA3 ITGA8 ITGAM IVD JAZF1 KANK2 KARS1 KCNE5 KCNJ1 KCNJ11 KHK KIAA0319L KIF1B KIF23 KIRREL1 KLF11 KLF6 KRAS KRT18 KYNU L2HGDH LAGE3 LAMB2 LCAT LDHA LETM1 LIMK1 LIN28B LIPT1 LMBRD1 LMNA LMNB2 LMO1 LMX1B LPIN1 LPIN2 LRP2 LRPPRC LYZ MAF MAFB MAGI2 MAN2B1 MANBA MARS1 MAX MCCC1 MCCC2 MCEE MDH2 MECP2 MED12 MEFV METTL27 MIA3 MICOS13 MLIP MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMUT MOCOS MOCS1 MOCS2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTR MTRR MTX2 MUTYH MVK MYCN MYH9 MYO1E NADK2 NAGA NAGLU NCF1 NDUFAF6 NDUFB10 NDUFS4 NEU1 NEUROD1 NF1 NFS1 NFU1 NGLY1 NIPBL NOS1AP NOS3 NOTCH2 NPHP3 NPHS1 NPHS2 NPR2 NSMCE2 NT5C3A NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OAT OBSCN OCRL OFD1 OGDH OPA3 OPLAH OSGEP OTC OXCT1 OXGR1 PAH PAX2 PAX4 PBX1 PCBD1 PCCA PCCB PCK1 PDCD1 PDSS2 PDX1 PEPD PET100 PEX1 PEX14 PEX5 PFKM PGAM2 PGK1 PHKA1 PHKA2 PHKB PHKG2 PHOX2B PHYKPL PIEZO1 PIGA PIGB PIGT PIK3C2A PIK3CA PKD1 PKD2 PLCE1 PLOD1 PLOD2 PMM2 PNP POLG PPM1B PPOX PRDX1 PREPL PRODH PRPS1 PRTN3 PSTPIP1 PTPN22 PTPRO PUS3 PXK PYGL PYGM REN RET RFC2 RMRP RNU7-1 RPIA RRM2B RYR1 SAA1 SARDH SARS2 SAT1 SCARB2 SCO1 SDHA SDHAF2 SDHB SDHC SDHD SERAC1 SFXN4 SGCB SGPL1 SGSH SH2B1 SHPK SKIC3 SLC12A1 SLC12A3 SLC13A3 SLC16A1 SLC16A12 SLC18A2 SLC19A2 SLC1A1 SLC22A12 SLC22A5 SLC25A1 SLC25A11 SLC25A13 SLC25A15 SLC25A20 SLC26A1 SLC28A1 SLC2A2 SLC2A9 SLC34A1 SLC35A1 SLC36A2 SLC37A4 SLC3A1 SLC52A1 SLC5A1 SLC5A2 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC7A7 SLC7A9 SLCO1B1 SLCO1B3 SLCO2A1 SMAD4 SMARCAL1 SNAP29 SNX14 SPINK5 SPP1 SPRY2 STAT2 STAT3 STAT4 STK11 STOX1 STX1A SUCLA2 SUCLG1 SUGCT SUMF1 SUOX SURF1 TAFAZZIN TANGO2 TAT TBC1D24 TBC1D8B TBL2 TCN2 TDO2 TFAM THBD TIMM50 TK2 TKT TLR7 TMEM127 TMEM270 TMEM70 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF4 TNIP1 TOP2A TP53 TP53RK TPK1 TPRKB TREX1 TRIM8 TRMT5 TRMU TRNT1 TRPC6 TRPV4 TRPV6 UBE2L3 UMPS UNC45A UQCRB UROC1 UROD UROS VHL VIPAS39 VPS33A VPS33B VPS37D VPS50 WDR19 WDR4 WDR73 WT1 XDH XPA XPC YRDC ZAP70 HP_ABNORMAL_URINE_OSMOLALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_OSMOLALITY AQP2 ARNT2 AVPR2 CLCN5 KCNJ1 NPHP1 SLC12A1 HP_ABNORMAL_URINE_PH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PH ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACSF3 AGXT ALAD ALDH5A1 ALDH6A1 ATPAF2 BCS1L BTD CA5A CD320 COX16 CPOX CPT1A CPT2 D2HGDH DHTKD1 ETFA ETFB ETFDH ETHE1 FH FLAD1 FOCAD FTCD GATA1 GATM GCDH GRHPR HADH HCFC1 HGD HLCS HMBS HMGCL HOGA1 HPD HSPD1 IDH1 IDH2 KIF1B L2HGDH LDHD LETM1 LIPT1 LMBRD1 LYRM4 MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MPC1 MRPS2 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTR MTRR MVK NADK2 NDUFA9 NDUFB10 NDUFS4 NFS1 NFU1 OXCT1 OXGR1 PAH PCCA PCCB PDP1 PET117 PEX1 PEX14 PGM2L1 POLG POLRMT PPOX PRDX1 RET SCO1 SDHD SFXN4 SLC13A3 SLC18A2 SLC22A5 SLC25A1 SLC25A19 SLC25A20 SLC25A21 SLC25A4 SLC26A1 SLC52A1 SLC52A2 SUCLA2 SUCLG1 SUGCT TAT TCN2 TFAM TMEM126B TRMU UROC1 UROS HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION ABCC6 ALDOB ATP7B CASR CDC73 CLCN5 COA8 CTNS DMP1 EHHADH ENPP1 FAM20A FGF23 GATM GCM2 GNAS HNF4A HRAS INPPL1 KRAS MEN1 MT-TN MT-TS1 NDUFAF6 NHERF1 NRAS OCRL PHEX PTH1R SLC2A2 SLC34A1 SLC34A3 SURF1 HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION ATP1A1 BSND CACNA1S CLCNKA CLCNKB CTNS CYP11A1 EHHADH GABRA3 GATM KCNJ1 KCNJ10 KCNJ18 NDUFAF6 SERPINA6 SLC12A1 SLC12A3 SLC34A1 HP_ABNORMAL_URINE_PROTEIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PROTEIN_LEVEL ABCC8 ACP5 ACSL4 ACTN4 ADAMTS13 ALG5 ALG9 AMMECR1 AMN ANKFY1 ANLN APOA1 APOE APOL1 APRT ARHGAP24 ARHGDIA ATP7B B2M BANK1 BAZ1B BCL7B BICC1 BLK BUD23 C3 C4A C4B CD2AP CD46 CD81 CFB CFH CFI CLCN5 CLCNKB CLIP2 COA8 COL4A3 COL4A4 COL4A5 COL4A6 COQ2 COQ6 COQ8B CORIN CR2 CRB2 CTLA4 CTNS CUBN DAAM2 DDOST DGKE DLST DNAJB11 DNAJC30 DNASE1 DNASE1L3 DNASE2 DNMT3A DPH1 EHHADH EIF4H ELN EMP2 EPAS1 ERCC4 ERCC6 ERCC8 ETS1 EXT2 FAN1 FCGR2B FCGR3B FGA FH FKBP6 FLT1 FN1 FOXC2 G6PC1 GALT GANAB GAPVD1 GATA3 GATM GBA1 GCK GLA GON7 GSN GTF2I GTF2IRD1 GTF2IRD2 HELLPAR HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HNF1B HNF4A IER3IP1 IFT140 IFT172 IGHG1 IL10 INF2 INS IRAK1 IRF5 ITGA3 ITGA8 ITGAM JAZF1 KANK2 KARS1 KCNE5 KCNJ11 KIAA0319L KIF1B KIRREL1 LAGE3 LAMB2 LCAT LIMK1 LMNB2 LMX1B LPIN2 LRP2 LYZ MAF MAFB MAGI2 MAX MDH2 MECP2 MED12 MEFV METTL27 MIA3 MLXIPL MMACHC MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTX2 MYH9 MYO1E NCF1 NDUFAF6 NEU1 NF1 NIPBL NOS1AP NOS3 NOTCH2 NPHP3 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OFD1 OSGEP PAX2 PBX1 PDCD1 PDSS2 PDX1 PEX1 PIGA PKD1 PKD2 PLCE1 PMM2 PRDX1 PRODH PRTN3 PSTPIP1 PTPN22 PTPRO PUS3 PXK PYGL REN RET RFC2 RNU7-1 SAA1 SARS2 SAT1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SGPL1 SH2B1 SLC12A3 SLC22A12 SLC25A11 SLC2A2 SLC2A9 SLC34A1 SLC35A1 SLC37A4 SLC7A7 SMARCAL1 SNAP29 SPP1 SPRY2 STAT2 STAT3 STAT4 STOX1 STX1A SURF1 TBC1D8B TBL2 THBD TLR7 TMEM127 TMEM270 TNFAIP3 TNFSF4 TNIP1 TP53RK TPRKB TREX1 TRIM8 TRPC6 UBE2L3 UNC45A VHL VIPAS39 VPS33A VPS33B VPS37D VPS50 WDR19 WDR4 WDR73 WT1 YRDC ZAP70 HP_ABNORMAL_URINE_SODIUM_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION AVPR2 BSND CLCNKA CLCNKB CYP11A1 CYP11B2 EHHADH GATM HSD11B2 KCNJ10 MC2R MRAP NDUFAF6 NNT SLC34A1 STAR TXNRD2 HP_ABNORMAL_UTERINE_CERVIX_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERINE_CERVIX_MORPHOLOGY AR CDKN1B COL1A1 COL3A1 COL5A1 COL5A2 CXCR4 FGFR3 GATA2 MAD1L1 PLG SRY STK11 HP_ABNORMAL_UTERUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERUS_MORPHOLOGY AKT1 ALG9 APC AURKA AXIN1 AXIN2 BAX BMPR1A BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B CCND1 CCNQ CDC73 CDH1 CHEK2 COL1A1 COL3A1 COL4A5 COL4A6 COL5A1 COL5A2 COQ6 CTNNB1 DACT1 DCC DHCR7 DLC1 DYNC2H1 DYNC2I1 DYNC2I2 ELN EP300 EPCAM ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 FH FLCN FLI1 FOXF1 FRAS1 FREM2 FZD2 GATA3 GNB2 GREM1 GRIP1 HNF1B HOXA13 HYLS1 IFT80 INTU IPO8 ITGA8 KLLN LARS2 LRP2 LZTR1 MAD2L2 MCC MID1 MLH1 MLH3 MNX1 MSH2 MSH3 MSH6 NAB2 NDP NF2 NRAS NTHL1 PALB2 PDGFRL PHGDH PIGN PIK3CA PLA2G2A PMS2 POLD1 POLE PPP1R12A PTEN PTPN12 PTPRJ RAD51 RAD51C RAD54B RARB RFWD3 RIPK4 RPS20 RPS6KA3 SALL1 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SF3B4 SLC6A17 SLX4 SMAD3 SMARCB1 SPECC1L SRC SRY STAT6 STK11 STRA6 TBX3 TGFBR1 TGFBR2 THOC6 TLR2 TNXB TP53 UBE2T USF3 WDR35 WNT4 WT1 XRCC2 HP_ABNORMAL_UVEA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVEA_MORPHOLOGY AAAS ABCA4 ABCB6 ABCC6 ACTA2 ACTB ACTG1 ACVRL1 ADAMTS17 ADAMTS18 ADAMTSL1 ADAMTSL4 ADGRV1 ADNP AGXT AHI1 AIRE AKT1 ALDH1A3 ALG2 ALG3 ALX3 ANK1 ANKRD55 AP1S3 AP3B1 AP3D1 APOE ARL13B ARL3 ARL6IP6 ARMC9 ARSG ASPH ATOH7 ATP10A ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAP1 BAZ1B BCL10 BCL7B BCOR BDNF BEST1 BIRC3 BLM BLOC1S3 BLOC1S5 BLOC1S6 BMP4 BRCA1 BRCA2 BRIP1 BTNL2 BTRC BUD23 C12orf57 C1QTNF5 CAPN5 CASK CASP10 CASZ1 CBY1 CC2D2A CCDC22 CCM2 CD247 CD27 CDH23 CDON CENPF CEP104 CEP120 CEP290 CEP41 CEP78 CFH CFHR1 CFHR3 CFI CHD7 CHM CHN1 CHRDL1 CIB2 CLCN2 CLCNKB CLDN19 CLEC3B CLIP2 CLRN1 CNGB3 COL18A1 COL25A1 COL3A1 COL4A1 COL8A2 COQ2 COX7B CPAMD8 CPLANE1 CPLX1 CRB1 CRPPA CRX CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTNNB1 CYP1B1 CYP4V2 CYSLTR2 DACT1 DAG1 DCT DDX6 DHCR7 DHX16 DIS3L2 DISP1 DLL1 DLST DLX5 DLX6 DNAJC30 DNASE1L3 DPP6 DPYSL5 DTNBP1 DYRK1A EDC3 EDN3 EDNRB EFEMP1 EIF4H ELN ELOVL4 ELP1 ELP4 ENPP1 EPG5 EPHA2 EPS15L1 ERCC1 ERCC4 ERCC6 ERCC8 ERF ESPN EYS FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FBLN1 FBLN5 FBN1 FBN2 FBXW4 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FH FKBP6 FKRP FKTN FLI1 FLNA FOXC1 FOXE3 FOXH1 FOXP1 FSCN2 FZD4 GABRD GAS1 GATA1 GDF3 GFAP GJA1 GJA8 GLI2 GMPPA GMPPB GNA11 GNAQ GPC3 GPR143 GPR35 GRHL2 GTF2I GTF2IRD1 GTF2IRD2 GUCA1A GUCY2D GZF1 H19 HADHA HARS1 HCCS HERC2 HEY2 HHAT HLA-A HLA-B HLA-DRB1 HMCN1 HMGB3 HMX1 HPS1 HPS4 HPS5 HPS6 HRAS HS2ST1 HSPG2 HYLS1 IDS IFNG IFT74 IGBP1 IGF1R IKBKG IL2RA IL2RB IL36RN IL6 IMPG1 IMPG2 INPP5E IRF4 ITPR1 JAG1 KANSL1 KATNIP KCNAB2 KCTD1 KIAA0586 KIAA0753 KIF11 KIF1B KIF21A KIFBP KIT KITLG KMT2D KRAS KRIT1 KRT25 KRT71 KRT74 LACC1 LAMB2 LARGE1 LCA5 LDHD LETM1 LIMK1 LIPH LMX1B LOX LOXL1 LPAR6 LRAT LRBA LRMDA LRP2 LRP5 LTBP2 LUZP1 LYST MAB21L2 MAD2L2 MAF MAFB MAGEL2 MALT1 MAPK1 MAPKAPK3 MAT2A MAX MBTPS2 MC1R MDH2 MED12L METTL27 MFAP5 MFRP MICOS13 MIF MIR184 MIR204 MITF MKRN3 MKS1 MLPH MLXIPL MMP14 MMP2 MMP23B MPDZ MPZ MSH6 MST1 MT-TE MT-TK MT-TL1 MT-TS2 MTSS2 MYH11 MYLK MYO5A MYO7A MYOC NAA10 NCF1 NDE1 NDN NDP NDUFB11 NELFA NF1 NF2 NLRP1 NLRP3 NOD2 NODAL NOTCH2 NOTCH3 NPAP1 NPHP1 NRAS NRL NSD2 OAT OCA2 OCRL OFD1 OTX2 OVOL2 PAH PALB2 PAX2 PAX3 PAX6 PCDH15 PCYT1A PDCD10 PDE4D PDE6D PDPN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2A PHOX2B PIBF1 PIGG PIGL PIK3CA PIK3R1 PITX2 PMP22 PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 POU6F2 PRDM16 PRKAR1A PRKCD PRKCZ PRKG1 PROM1 PRPH2 PRR12 PRSS56 PTCH1 PTCH2 PTEN PTPN2 PTPN22 PUF60 PWAR1 PWRN1 PXDN RAB27A RAD51 RAD51C RASGRP1 RAX RB1 RBP4 RERE REST RET RFC2 RFWD3 RHOA RLBP1 RLIM RNU7-1 ROBO1 ROM1 ROR1 RP2 RPE65 RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SAG SALL1 SALL2 SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SEMA3E SEMA4D SF3B1 SH3TC2 SHH SIM1 SIN3A SIX3 SIX6 SKI SLC24A5 SLC25A11 SLC25A15 SLC45A2 SLX4 SMAD2 SMAD3 SMAD4 SMCHD1 SMO SNAI2 SNORD115-1 SNORD116-1 SNRPN SOS1 SOX10 SOX2 SPATA7 SPEN SPRED1 SPTBN1 SRD5A3 STAT4 STIM1 STUB1 STX1A SUFU TBL2 TBR1 TBX2 TBX22 TCEAL1 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TEAD1 TENM3 TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THSD4 TIMP3 TINF2 TKT TMEM107 TMEM127 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMEM98 TNFAIP3 TNFRSF1A TOGARAM1 TONSL TP63 TRAPPC11 TRIM28 TRIM37 TRIM44 TRIP13 TRPM3 TSC1 TSC2 TSPAN12 TUBA1A TUBB2B TUBB3 TUBGCP4 TUBGCP6 TXNDC15 TYR TYRP1 UBE2T UBE3A UBE3B UBE4B USH1C USH1G USH2A VCAN VHL VPS13B VPS33A VPS35L VPS37D VSX1 VSX2 WAC WASHC5 WDR45 WDR73 WHRN WNT10B WNT3 WT1 XRCC2 XYLT1 XYLT2 YAP1 ZEB1 ZEB2 ZIC2 ZNF408 ZNF423 ZNF668 HP_ABNORMAL_UVULA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVULA_MORPHOLOGY AEBP1 ALG3 ALG9 AMER1 AMMECR1 ASPH ATP6V1B2 B3GALNT2 B4GALT7 B4GAT1 B9D2 BCOR BGN BIN1 BMP4 BRCA1 BRCA2 BRIP1 CDC45 CDC6 CDH11 CDON CDT1 CHD4 COL11A1 COL11A2 COL2A1 COL4A1 CRPPA CUL3 DAG1 DDX3X DDX59 DHCR24 DHCR7 DISP1 DLG3 DLK1 DLL1 EDN1 EIF4A3 ERCC4 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO11 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FKRP FKTN FLNA FOXH1 FTO GAS1 GJA5 GJA8 GLI2 GLI3 GMNN GNAI3 GRHL3 HAAO HNRNPK HYAL1 HYLS1 IFT140 IGBP1 IPO8 IRF6 KAT6B KCNH1 KCNK9 KCNMA1 KCNN3 KCTD1 KDM6B KIF14 KIF7 KMT2C KMT2D LARGE1 MAD2L2 MAP3K7 MEG3 METTL23 MYL11 NODAL NXN ORC1 ORC4 ORC6 PALB2 PGAP1 PGAP2 PGAP3 PGM1 PI4KA PIEZO2 PIGL PIGO PIGV PIGW PIGY PLCB4 PLCH1 POGZ POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PRR12 PTCH1 PTDSS1 RAD51 RAD51C RECQL4 RFWD3 RFX7 RNU4ATAC ROR2 RPL5 RPS23 RPS28 RTL1 RXYLT1 RYR1 SATB2 SEC23A SELENOI SERPING1 SETD5 SHH SHMT2 SIAH1 SIX1 SIX3 SKIC3 SLC2A10 SLC39A13 SLX4 SMAD3 SMAD4 SMARCD1 SMC1A SMCHD1 SMPD4 SMS SNRPN SON SPEG SPTBN1 STAC3 STAG2 STIL SUPT16H TBCE TBX1 TBX22 TCTN3 TDGF1 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TMEM231 TP63 TTN TXNL4A UBB UBE2T USP9X WDR35 XRCC2 XYLT1 ZEB2 ZIC2 HP_ABNORMAL_U_WAVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_U_WAVE CAV3 CLCNKB KCNJ2 KCNJ5 SLC12A3 HP_ABNORMAL_VAGINA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VAGINA_MORPHOLOGY AR ARHGAP31 ARL6 B3GLCT BBS1 BBS12 BCOR BUB1 BUB1B BUB3 CAPN15 CCDC28B CCNQ CEP57 CHRM3 CLEC7A COL3A1 COL4A5 COL4A6 COL7A1 CYB5A CYP11A1 CYP11B1 CYP17A1 DACT1 DDB1 DHCR7 DHH DHX37 DMRT3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 FGFR2 FH FRAS1 FREM1 FREM2 GATA3 GATA4 GLI3 GRIP1 HOXA13 HYLS1 IFT80 IL10RB IL17F IL17RA IL17RC INTU IRF6 ITGA8 JAK3 KIF14 KIF7 LONP1 MAMLD1 MAP3K1 MKKS MNX1 MTM1 NAB2 NR0B1 NR2F2 NR5A1 PAX3 PAX6 PI4KA POLR1B POLR1C POLR1D POR PPP1R12A PPP2R1A RECQL4 RELA RIPK4 RNU12 RSPO2 SALL1 SALL4 SLC35A2 SMAD3 SOX9 SPINT2 SRD5A2 SRY STAT6 TBX3 TCOF1 TCTN3 TP63 TRAF3IP2 TRIP13 UBR1 VAMP7 WDR35 WNT3 WNT4 WT1 WWOX ZEB2 ZFPM2 ZMYM2 HP_ABNORMAL_VASCULAR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_MORPHOLOGY AASS ABCA1 ABCC6 ABCC9 ABCD4 ABCG5 ABCG8 ABL1 ACAD9 ACP5 ACSL4 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACVR2B ACVRL1 ADA2 ADAMTS10 ADAMTS13 ADAMTS19 ADAMTS3 ADAMTSL1 ADAR ADAT3 ADH5 ADK AEBP1 AFF4 AGGF1 AGO2 AGPAT2 AGXT AIRE AKT1 ALB ALDH18A1 ALDH1A2 ALG12 ALG2 ALG3 ALG5 ALG8 ALG9 ALMS1 ALOX5AP ALPL ALX1 ALX3 ALX4 AMACR AMER1 AMMECR1 ANAPC7 ANGPT2 ANGPTL6 ANK1 ANKS6 ANTXR1 APC2 APOA1 APOA2 APOA5 APOB APOE APP ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL6IP6 ARPC1B ARSL ARVCF ARX ASAH1 ASCC1 ASS1 ASXL2 ATN1 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATRX B2M B3GALT6 B3GAT3 B3GLCT BANF1 BAP1 BAZ1B BCL11B BCL7B BCOR BCR BEST1 BGN BICC1 BICD2 BICRA BMP2 BMPR1A BMPR2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRF1 BRIP1 BSCL2 BUB1 BUB1B BUB3 BUD23 C12orf57 C1QB C1R C1S C2CD3 C4A CACNA1C CACNA1D CADM3 CALM3 CALR CARS1 CASP10 CASZ1 CAT CAV1 CAVIN1 CBL CBS CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCDC8 CCM2 CCND1 CCNO CCNQ CCR1 CD109 CD19 CD244 CD46 CD55 CD81 CD96 CDC42 CDC42BPB CDH2 CDH23 CDK8 CDON CELA2A CELSR1 CEP120 CEP19 CEP57 CETP CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CFH CFI CHD4 CHD7 CHMP2B CHRM3 CHRNG CHST3 CHUK CIITA CIROP CITED2 CLCN2 CLCN3 CLCN7 CLCNKB CLIP2 CLN6 CLN8 CNTN1 COA6 COG4 COG6 COL18A1 COL1A1 COL1A2 COL3A1 COL4A1 COL4A2 COL5A1 COL5A2 COLGALT1 COMT COQ4 COX7B CPLANE1 CPS1 CPT2 CR2 CRB2 CREBBP CRELD1 CRKL CRTAP CSF2RA CSF2RB CSGALNACT1 CST3 CTC1 CTCF CTLA4 CTSA CTSD CTU2 CUL7 CUX1 CWC27 CXCR2 CXCR4 CYP11B1 CYP11B2 CYP1B1 CYP26C1 CYP27A1 CYP7A1 DACT1 DARS1 DCDC2 DCX DDX11 DDX3X DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHPS DIAPH1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DLL4 DLST DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC30 DNAJC5 DNAL1 DNASE1L3 DNM2 DNMT3A DOCK6 DOCK8 DOHH DPAGT1 DPF2 DPH5 DPM1 DPM3 DPYSL5 DRC1 DTNA DVL3 DYNC2LI1 DYRK1A DYRK1B ECE1 EDN1 EED EFEMP1 EFEMP2 EGFR EHMT1 EIF2AK3 EIF2AK4 EIF4H ELN EMILIN1 ENG ENPP1 EOGT EP300 EPAS1 EPHB4 EPHX2 EPOR ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESCO2 ESR1 ESS2 EXT1 EXT2 EZH2 F10 F12 F13A1 F13B F2 F5 F7 F8 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FASLG FAT4 FBLN5 FBN1 FBN2 FCGR2C FGA FGB FGF10 FGF8 FGFR1 FGFR2 FGFR3 FGG FH FHOD3 FIBP FIG4 FKBP14 FKBP6 FKTN FLI1 FLNA FLNB FLNC FLT4 FMR1 FN1 FOCAD FOS FOXC1 FOXC2 FOXE1 FOXE3 FOXF1 FOXH1 FOXJ1 FOXP2 FRA10AC1 FTO FUCA1 FUT8 FZD4 G6PC3 GAA GABRD GALC GALNT3 GANAB GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA5 GATA6 GBA1 GCDH GDF1 GDF2 GEMIN4 GGCX GHR GJA1 GJA5 GJA8 GJC2 GLA GLB1 GLI2 GLI3 GLMN GLYCTK GM2A GMPPB GNA11 GNAI3 GNAQ GNB2 GNPAT GP1BA GP1BB GPC3 GPC4 GPC6 GPIHBP1 GPR35 GRN GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 GUSB GYS1 H3-3A H4C9 HABP2 HACD1 HADHB HBB HCCS HCK HDAC4 HEATR3 HELLPAR HES7 HEXA HEXB HEY2 HGD HIBCH HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNRNPK HOXA1 HPGD HRAS HSD11B2 HSPG2 HTRA1 HTRA2 HYDIN HYMAI HYOU1 ICOS IDH1 IDS IFIH1 IFNG IFNGR1 IFT140 IFT27 IFT43 IGBP1 IGF2 IGFBP7 IKBKG IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL23R IL6 IL6ST INTU IPO8 IRF2BP2 ITGA2 ITGA2B ITGB3 ITPR1 IVD JAG1 JAK2 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNE5 KCNH1 KCNJ5 KCNJ8 KCNN3 KCNQ2 KCNT1 KDM3B KDM6A KDR KIF1B KIF20A KIF5A KLRC4 KMT2A KMT2B KMT2D KMT5B KNSTRN KRAS KRIT1 KYNU LARS2 LCAT LDLR LDLRAP1 LEMD2 LFNG LIFR LIG3 LIMK1 LIPA LIPC LMAN1 LMBRD1 LMNA LMOD2 LMX1B LOX LPL LRP5 LRP6 LRPPRC LRRC56 LSM11 LTBP1 LTBP4 LUZP1 LZTR1 MAD2L2 MAF MAP1B MAP2K1 MAP3K7 MAPK1 MAPKAPK5 MAPT MARS2 MASP1 MAT2A MAX MCCC1 MCCC2 MCFD2 MCIDAS MCTP2 MDH2 MECP2 MED11 MED12 MED13L MED25 MEF2A MEFV MEG3 MEGF8 MEIS2 MESP2 METTL27 MFAP5 MGAT2 MGP MID1 MINPP1 MKKS MKS1 MLX MLXIPL MMACHC MMP14 MMP2 MMP21 MMP23B MMUT MNX1 MPI MPL MRAS MRPS16 MS4A1 MST1 MSX2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MVK MYBPC3 MYCN MYD88 MYH11 MYH3 MYH6 MYH7 MYLK MYOC MYOCD MYPN MYRF NAA10 NAA20 NADSYN1 NAE1 NAGA NAGS NCAPG2 NCF1 NDE1 NDP NDUFA8 NDUFB11 NEDD4L NEK1 NEK10 NEK8 NEK9 NEU1 NF1 NF2 NFIA NFIX NFKB1 NFKB2 NFKBIL1 NGLY1 NIPA1 NIPA2 NKAP NKX2-5 NKX2-6 NLRP3 NME5 NME8 NOD2 NODAL NONO NOS3 NOTCH1 NOTCH2 NOTCH3 NPC1 NPC2 NPHP3 NPPA NPR3 NR2F2 NR3C1 NRAS NSD1 NSMCE2 NT5E NXN OBSL1 OCLN ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OSGEP OTC OTUD5 OTULIN P4HA2 PACS1 PAFAH1B1 PAH PAK2 PALB2 PAM16 PBX1 PCCA PCCB PCGF2 PCNT PCSK9 PDCD10 PDE11A PDGFB PDGFRB PDPN PET100 PEX1 PEX12 PEX19 PGM1 PGM3 PHGDH PIEZO1 PIGA PIGL PIGN PIGO PIGT PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PIK3R2 PKD1 PKD1L1 PKD2 PKP2 PLAGL1 PLCB1 PLCB3 PLCB4 PLCH1 PLD1 PLIN1 PLOD1 PLOD3 PLXNA1 PLXND1 PMM2 PNP PNPLA2 POGZ POLA1 POLR1A POLR1B POLR1C POLR1D POLR3A POLR3F PORCN POU3F4 PPARG PPFIBP1 PPP1CB PPP1R15B PPP1R17 PPP2R1A PPT1 PQBP1 PRDM13 PRDM16 PRDM6 PRIM1 PRKACB PRKAR1A PRKCD PRKCH PRKCSH PRKCZ PRKG1 PRNP PROC PROS1 PRPF3 PRTN3 PSAP PSEN1 PSMD12 PTCH1 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PUF60 PYCR1 QRICH1 RAB23 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RASA1 RASA2 RASGRP1 RBM10 RBM8A RBP4 RBPJ RERE RET RFC2 RFT1 RFWD3 RIN2 RIPPLY2 RIT1 RNASEH2A RNASEH2B RNASEH2C RNF168 RNF213 RNU4ATAC RNU7-1 ROBO1 ROBO4 ROR2 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTL1 SALL1 SALL4 SAMD9 SAMHD1 SC5D SCN10A SCN11A SCN1A SCN2A SCN5A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC61A1 SEC63 SELENOI SEMA3E SEMA4D SERPIND1 SERPINE1 SERPINF2 SETD2 SF3B2 SF3B4 SFTPB SH2B3 SH2D1A SH3PXD2B SHANK3 SHH SIAH1 SIK3 SIN3A SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A3 SLC12A5 SLC19A2 SLC20A2 SLC22A4 SLC25A11 SLC25A22 SLC25A24 SLC29A3 SLC2A10 SLC34A2 SLC35A2 SLC37A4 SLC39A13 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMO SMOC1 SMPD1 SNAP29 SNORD118 SNRPB SNRPN SNX10 SNX14 SON SOS1 SOS2 SOX10 SOX11 SOX18 SOX2 SOX4 SPAG1 SPARC SPECC1L SPEF2 SPEN SPRED2 SPTBN1 SRCAP SRY SSR4 STAG2 STAT1 STAT2 STAT3 STAT4 STIL STIM1 STK36 STRA6 STT3A STX1A STXBP1 SUCLG1 SUFU SUPT16H SYK TAB2 TALDO1 TANGO2 TAOK1 TBC1D24 TBL2 TBX1 TBX2 TBX20 TBX4 TBX5 TCF4 TCIRG1 TCOF1 TDGF1 TEK TELO2 TERT TET2 TFAP2B TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 TGIF1 THOC6 THPO THSD1 THSD4 TKT TLL1 TLR4 TMCO1 TMEM106B TMEM127 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM94 TMTC3 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNNI3 TNNT2 TNXB TOM1 TONSL TP53 TP63 TPM2 TPM3 TPP2 TRAF7 TRAIP TREM2 TREX1 TRIO TRIP11 TRIP13 TRIP4 TRPV6 TRRAP TSC1 TSC2 TSFM TSR2 TTC12 TTC26 TTR TUBG1 TULP1 TWIST1 UBA1 UBAC2 UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UFC1 UFD1 UMPS UNC45B UQCRFS1 USP18 USP48 USP8 USP9X VAC14 VCP VEGFC VHL VPS33A VPS35L VPS37D VWF WAC WAS WASHC5 WDPCP WDR19 WDR26 WDR35 WDR37 WFS1 WIPF1 WLS WNT4 WRN WT1 XIAP XRCC2 XYLT1 XYLT2 YME1L1 YY1 YY1AP1 ZAP70 ZBTB7A ZEB2 ZFPM2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF462 ZNF687 ZNF699 ZSWIM6 HP_ABNORMAL_VASCULAR_PHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_PHYSIOLOGY ABCC6 ABCD4 ACP5 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 ADAR AFF4 AGGF1 AGK AGR2 AGXT AKT1 ALB ALDH1A2 ALMS1 ANGPTL6 APP ARHGAP31 ARSB ATP13A3 ATP5F1A ATRX BANF1 BANK1 BAZ1B BCL7B BLK BMP6 BMPR2 BRAF BRCC3 BTNL2 BUD23 C4A C4B CA2 CACNA1C CACNA1D CALR CAV1 CBS CCN2 CCR1 CCR6 CD55 CDH23 CHST3 CITED2 CLCN7 CLCNKB CLIP2 COG1 COL1A1 COL1A2 COL3A1 COL4A1 COL5A1 COL5A2 COLGALT1 COLQ COQ2 COX5A COX6B1 COX7B COX8A CR2 CTCF CTLA4 CTNNB1 DEF6 DLK1 DLL4 DNAJC30 DNASE1 DOCK6 EIF2AK4 EIF4H ELN ENG ENPP1 EOGT EPHB4 ERAP1 ETS1 F13A1 F2 F5 F8 FAS FBN1 FCGR2B FCGR3B FGFR1 FGFR3 FIG4 FKBP14 FKBP6 FLNA FLNC FOXE3 FOXF1 FOXP1 FSHR G6PC3 GATA4 GATA6 GBA1 GDF2 GLA GNAQ GNB2 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 HABP2 HBB HEY2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HRAS HSPG2 HTRA1 IDUA IFIH1 IFNGR1 IGHG1 IKBKG IL10 IL12A IL12A-AS1 IL12B IL23R IL6ST IPO8 IRAK1 IRF5 ITGAM JAK2 JAZF1 KCNJ5 KCNK3 KCNN4 KIAA0319L KIF20A KLRC4 KMT2D KRAS KRT18 LAMA2 LAMB2 LARS2 LBR LCK LIFR LIMK1 LIPT1 LMNA LOX LSM11 MAT2A MECP2 MED12 MED25 MEFV MEG3 METTL27 MFAP5 MGP MLX MLXIPL MMACHC MPL MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MUC5B MYBPC3 MYH11 MYH6 MYH7 MYLK MYMK MYPN NAA10 NAGA NAGS NCF1 NDUFA8 NDUFB10 NF1 NFIX NFU1 NKX2-1 NKX2-5 NOD2 NOTCH1 NOTCH3 NPPA NR3C1 NT5E ODAD1 P4HA2 PAM16 PDCD1 PDSS1 PGM1 PIEZO1 PIGA PIGN PIK3C2A PIK3CA PLOD1 PLOD3 PLP1 PPCS PRIM1 PRKG1 PROC PROS1 PRTN3 PTEN PTPN22 PXK RASA1 RBPJ RFC2 RHAG RNASEH2A RNASEH2B RNASEH2C RNF125 RNF213 RNU7-1 RPL3L RTL1 RYR1 SAMHD1 SARS2 SAT1 SCARB2 SCN5A SCNN1A SCNN1B SCNN1G SERPINC1 SFTPA2 SFTPB SFTPC SH2B3 SLC12A3 SLC25A24 SLC29A3 SLC2A10 SLC34A2 SLC37A4 SLC4A1 SMAD2 SMAD3 SMAD4 SMAD9 SMARCAL1 SNX10 SON SPP1 STAT1 STAT4 STING1 STX1A TBL2 TBX20 TBX4 TCIRG1 TERC TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBD THPO THSD1 THSD4 TINF2 TLL1 TLR4 TLR7 TMEM270 TNFAIP3 TNFSF11 TNFSF4 TNIP1 TNNI3 TNNT2 TOM1 TP53 TREX1 TRRAP TTC26 UBAC2 UBE2A UBE2L3 USP48 USP8 VAC14 VCL VHL VPS33A VPS37D XPNPEP2 XYLT1 XYLT2 ZMPSTE24 ZNF699 HP_ABNORMAL_VENA_CAVA_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY ACVR2B ADH5 ATN1 BAP1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFC1 CIROP CREBBP CWC27 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EP300 ERCC8 FADD FANCB FOXF1 FOXJ1 GAS2L2 GAS8 GNB2 HYDIN KDM3B LRPPRC LRRC56 MCIDAS MED25 MID1 MMP21 NCAPG2 NEK10 NKX2-6 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PLXND1 PRKACB PRKCD RAI1 RBM10 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SLC29A3 SMAD2 SMG8 SMOC1 SPAG1 SPEF2 SRCAP STK36 TMEM260 TTC12 UBE2A UQCRFS1 WT1 ZIC3 ZMYND10 ZNF699 HP_ABNORMAL_VENOUS_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENOUS_MORPHOLOGY ACVR2B ADH5 AEBP1 AGGF1 AGPAT2 AKT1 ALX4 ANGPT2 ANTXR1 ARVCF ATN1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BANF1 BAP1 BSCL2 C1R C1S CAV1 CAVIN1 CCDC103 CCDC39 CCDC40 CCDC65 CCM2 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFC1 CIROP CLCNKB COG4 COL3A1 COMT CREBBP CWC27 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 ENG EP300 EPHB4 ERCC8 FADD FANCB FIBP FLT4 FOS FOXC2 FOXF1 FOXJ1 G6PC3 GAS2L2 GAS8 GBA1 GJC2 GLMN GNAQ GNB2 GP1BB GPR35 HIRA HYDIN JMJD1C KDM3B KIF5A KRIT1 LEMD2 LMNA LRPPRC LRRC56 MCIDAS MED25 MID1 MMP21 MST1 MSX2 NCAPG2 NDP NEK10 NKX2-6 NME5 NME8 NOTCH3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PDCD10 PDGFRB PIEZO1 PIK3CA PIK3R1 PLOD1 PLXND1 POLR3A PPARG PPP1R15B PRKACB PRKCD PROC PROS1 PTDSS1 PTEN PYCR1 RAI1 RASA1 RBM10 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SEC24C SEMA4D SLC12A3 SLC25A24 SLC29A3 SLC39A13 SMAD2 SMAD3 SMG8 SMOC1 SPAG1 SPEF2 SRCAP STK36 TBX1 TCF4 TEK TMEM260 TTC12 UBE2A UFD1 UQCRFS1 VEGFC VHL WT1 ZIC3 ZMPSTE24 ZMYND10 ZNF699 HP_ABNORMAL_VENTRICULAR_AXIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENTRICULAR_AXIS GAA MYH7 PLXND1 PRKAG2 TNNT2 HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY AARS1 ABL1 ACADVL ACVR2B ADA2 ADAMTS10 AFF4 AKT3 ALDH1A2 ALG12 ALG8 ALG9 ALKBH8 ALPK3 AMER1 ANKRD11 APC2 ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARSL ARVCF ARX ASXL1 ATN1 ATP6V0A2 ATRX B3GALT6 B3GLCT BAP1 BAZ1B BCL7B BCOR BCR BMP2 BRAF BRD4 BRF1 BSCL2 BUD23 C2CD3 CACNA1C CACNA1D CALM3 CAMK2A CANT1 CARS1 CASK CCBE1 CCDC174 CCDC22 CCDC32 CCDC47 CCND2 CD96 CDC45 CDK13 CDK8 CDKL5 CEP290 CEP57 CHD3 CHD4 CHD7 CHMP1A CHRM3 CHST3 CIROP CITED2 CKAP2L CLIP2 COG6 COG7 COMT COQ4 COX7B CPLX1 CRB2 CREBBP CRKL CSGALNACT1 CSRP3 CTBP1 CTU2 CUX1 CWC27 DDX11 DDX59 DGCR2 DGCR6 DGCR8 DHCR7 DLK1 DLL4 DMXL2 DNAJC19 DNAJC30 DNMT3A DOHH DPF2 DPH1 DPH2 DPH5 DPYSL5 DSG1 DST DTNA DVL3 DYNC2I1 DYNC2LI1 DYRK1A ECE1 ECHS1 EFTUD2 EIF4H ELN EOGT EP300 ERBB3 ERCC2 ERCC3 ESCO2 ESS2 EVC EVC2 EXOC2 EXT2 FADD FANCB FANCC FANCI FBN1 FBN2 FGFR1 FGFR2 FGFRL1 FH FIBP FIG4 FKBP6 FLI1 FLNB FOCAD FOXC2 FOXF1 FRA10AC1 FTO GATA1 GATA4 GATA5 GATA6 GDF1 GDF3 GDF6 GET3 GJA1 GJA5 GJA8 GLA GLI1 GLI3 GNAO1 GNB2 GP1BB GPC3 GPC4 GPC6 GRIN1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GYG1 HCCS HDAC8 HEATR3 HIRA HNRNPK HNRNPR HOXA13 HRAS HYLS1 HYMAI IDH1 IFT172 IFT27 IFT81 IGBP1 IGF1R INSR IPO8 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KAT8 KCNA1 KDM3B KDM6A KIFBP KLHL41 KMT2D KRAS LARS2 LBR LEMD2 LETM1 LIMK1 LONP1 LRP2 LRP5 LTBP2 LZTR1 MACF1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MASP1 MED12 MED13L MED23 MED25 MEG3 MEIS2 MEOX1 METTL27 MGAT2 MGP MICU1 MID1 MIR17HG MKKS MLXIPL MMP14 MMP2 MPLKIP MT-CYB MTFMT MYBPC3 MYCN MYH3 MYH7 MYL2 MYOCD MYPN MYRF NAA10 NAA20 NAE1 NCF1 NDUFB11 NDUFB7 NDUFC2 NEDD4L NEK1 NEK9 NEUROD2 NF1 NFIX NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NR2F2 NSD1 NSD2 NUP107 NUP188 NXN ODAD1 ODAD3 OTUD5 OTUD6B PACS1 PACS2 PAH PALB2 PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHGDH PI4KA PIEZO2 PIGL PIGP PIGQ PIK3CA PIK3R2 PKD1L1 PLAGL1 PLCH1 PLD1 PLXND1 PNKP POLA1 PORCN PPFIBP1 PPM1D PPP1CB PPP2CA PPP2R5D PQBP1 PRDM13 PRKACA PRKACB PSMC1 PSMD12 PTPN11 PUF60 RAB23 RAC1 RAD21 RAI1 RARB RBM8A RERE RFC2 RFX7 RIT1 RNF113A RNU4ATAC ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RREB1 RSPO2 RTL1 RYR1 SALL1 SALL4 SATB1 SATB2 SCN1B SCN2A SEC24C SEC31A SETD2 SETD5 SF3B2 SF3B4 SH3PXD2B SHANK3 SHOC2 SIK1 SIX6 SKIC2 SKIC3 SLC12A2 SLC19A2 SLC25A22 SLC29A3 SLC32A1 SLC37A4 SLF2 SMAD2 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SNRPB SON SOS1 SOS2 SOX11 SOX2 SOX4 SPECC1L SPEN SPTBN1 STAG1 STAG2 STAMBP STRA6 STX1A SVBP SYNE1 TAB2 TALDO1 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX3 TBX5 TCIRG1 TCTN3 TET3 TFAP2B TGDS TGFB3 THOC6 TIAM1 TKT TMEM237 TMEM260 TMEM270 TMEM53 TMEM94 TNFRSF11A TNNT2 TP63 TPR TRAIP TRIM8 TRIO TRRAP TSR2 TTC26 TTC7A TUBG1 TXNL4A UBE2A UBE3B UBR1 UBR7 UFD1 UMPS UQCRFS1 VAC14 VIPAS39 VPS13B VPS33B VPS35L VPS37D WAC WASHC5 WBP11 WDR26 WDR37 WNT4 WT1 XYLT1 XYLT2 YARS1 YY1AP1 ZBTB7A ZEB2 ZIC3 ZMYM2 ZNF462 ZNF699 HP_ABNORMAL_VERTEBRAL_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY ABCC6 ABCC9 ACAN ACP5 ACTB ACVR1 ADA AEBP1 AFF4 AGA AHI1 AIFM1 AIP AKT1 ALDH1A2 ALG12 ALPL ANKRD11 ANTXR1 APC APC2 ARL13B ARL3 ARMC9 ARSB ARSK ARSL ASH1L ASXL2 ATP6V1B2 ATP7A ATRX B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BAZ1B BCL11A BCL7B BGN BMP1 BMP15 BMPER BNC1 BRAF BRPF1 BUD23 CANT1 CAPN15 CBS CBY1 CCDC134 CCDC22 CCDC8 CCL2 CCN6 CCND1 CDC45 CDH11 CDH23 CDK10 CDON CEP104 CEP120 CEP41 CFAP410 CHD4 CHD7 CHN1 CHRM3 CHRNA1 CHRND CHRNG CHST14 CHST3 CLCN3 CLCN7 CLIP2 COG1 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COLEC11 COMP CPLANE1 CPLX1 CREB3L1 CRTAP CSF1R CSGALNACT1 CSPP1 CTBP1 CTSA CUL7 CYP27A1 DACT1 DCC DDR2 DDRGK1 DEAF1 DHCR7 DHODH DHX37 DISP1 DKK1 DLK1 DLL1 DLL3 DMP1 DNAJC21 DNAJC30 DNAL4 DPP9 DPYSL5 DSE DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 EBP EFL1 EIF2AK3 EIF4H EIF5A ELN ENPP1 ESCO2 EXOC6B EXTL3 FANCB FANCC FANCI FBN1 FGD1 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FKBP6 FKRP FLI1 FLII FLNA FLNB FN1 FOXA2 FOXF1 FOXH1 FRAS1 FREM2 FSHR FUCA1 FUZ FZD2 GALNS GAS1 GBA1 GDF11 GDF3 GDF5 GDF6 GJA1 GLB1 GLE1 GLI2 GLI3 GNPAT GNPTAB GNS GORAB GPC3 GPC4 GPX4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 GUSB GZF1 H3-3B HAAO HDAC6 HES7 HESX1 HGD HGSNAT HHAT HIBCH HNF1B HNRNPK HNRNPR HOXD13 HRAS HSPA9 HSPG2 HTRA1 HYLS1 IARS2 IDH1 IDH2 IDS IDUA IFITM5 IFT43 IFT74 IFT80 IHH IKBKG IL1RN INPP5E INPPL1 IPO8 IQSEC2 ITCH JAG1 KANSL1 KATNIP KCNJ8 KDELR2 KDM1A KDM6A KIAA0586 KIAA0753 KIF22 KIF7 KMT2D KRAS KYNU LAMA5 LBR LEMD3 LETM1 LFNG LHX4 LIFR LIMK1 LONP1 LRP4 LRP5 LRRK1 LTBP1 LTBP3 LYSET MADD MAFB MAN2B1 MAP3K7 MATN3 MBD5 MBTPS2 MEG3 MEOX1 MESD MESP2 METTL27 MIA3 MID1 MKS1 MLXIPL MMP13 MMP14 MMP2 MNX1 MPL MRPS22 MRPS28 MSH4 MYH3 MYO18B NADSYN1 NAGLU NALCN NANS NCF1 NEK1 NEK9 NELFA NEPRO NEU1 NF1 NFATC2 NKX3-2 NMNAT1 NODAL NOG NOTCH2 NOTCH2NLC NOTCH3 NPR2 NR3C1 NR5A1 NRAS NSD1 NSD2 NSDHL NTN1 NUP107 NXN OBSL1 OCRL OFD1 ORC1 OTUD5 OTX2 P3H1 P4HB PAICS PAM16 PAPSS2 PAX3 PCYT1A PDE4D PDE6D PEX7 PHEX PHF6 PIBF1 PIEZO2 PIGG PLCB3 PLEKHM1 PLOD1 PLOD2 PLOD3 PMM2 POGZ POLR3A POLR3H POP1 POR POU1F1 PPIB PPP1R15B PRKAR1A PRKG2 PROP1 PSMC3IP PTCH1 PTCH2 PTDSS1 PTEN PTH1R PUF60 PYCR1 RAB33B RAD21 RAD51 RAI1 RBM8A RECQL4 RFC2 RINT1 RIPPLY2 RMRP RNU4ATAC ROR2 RPL13 RPS19 RPS6KA3 RSPO2 RSPRY1 RTL1 RUNX2 SALL1 SALL4 SBDS SC5D SCARB2 SEC23A SEC24D SEMA3E SERPINF1 SERPINH1 SETD2 SF3B2 SF3B4 SFRP4 SGMS2 SGSH SH2B1 SH3PXD2B SHH SIX3 SIX6 SKI SLC10A7 SLC25A24 SLC26A2 SLC29A3 SLC35B2 SLC35D1 SLC39A13 SMAD4 SMARCAL1 SMOC1 SMS SON SOST SOX2 SOX3 SOX5 SOX9 SPARC SPIDR SRP54 STAG2 STIL STX1A SUFU SUMF1 TAF1 TAPT1 TBC1D24 TBL2 TBX15 TBX2 TBX5 TBX6 TBXAS1 TBXT TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TENT5A TGIF1 THPO TMCO1 TMEM218 TMEM237 TMEM270 TMEM53 TMEM67 TNFRSF11A TNNI2 TNNT3 TOGARAM1 TONSL TP53 TPM2 TRAPPC2 TRIP11 TRPV4 TWIST1 UBE3B UFSP2 UROS USP48 USP8 VANGL1 VANGL2 VDR VPS35L VPS37D WASHC5 WBP11 WDR35 WNT1 WNT3 WNT3A WNT4 WNT5A WNT7A XYLT1 XYLT2 ZBTB20 ZIC2 ZIC3 ZSWIM7 HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION BMPER CHN1 FGD1 FLNA FUZ GDF3 GDF6 MAFB MEOX1 SALL4 VANGL1 HP_ABNORMAL_VESTIBULAR_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VESTIBULAR_FUNCTION ABCC9 ADA2 AIFM1 AIP ALMS1 ARSG ATP1A2 ATP2B2 ATXN3 BCOR BRAF C4A CACNA1A CACNA1G CACNB4 CALM1 CALM2 CALM3 CASQ2 CATSPER2 CCDC50 CCND1 CCR1 CD164 CDH23 CEACAM16 CEP78 CIB2 CLCNKB CLIC5 CLRN1 CLRN2 CNNM2 COCH COL3A1 CRYM CTNNB1 DBH DKK1 DLST DMXL2 DNMT3A ELMOD3 EPAS1 EPOR ERAP1 ESPN ESRP1 FAS FGF14 FH FIP1L1 FLI1 FOXI1 FXN GATA2 GATA4 GATA5 GATA6 GCDH GCGR GIPC3 GJA5 GJB2 GJB3 GJB6 GLA GRXCR1 GRXCR2 GYG1 HARS1 HLA-B HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRF2BP2 JAG1 JAK2 JUP KARS1 KCNA1 KCNA5 KCNE1 KCNE2 KCNJ10 KCNJ2 KCNJ3 KCNJ5 KCNQ1 KCNQ2 KIF1B KLRC4 LHFPL5 LOXHD1 LRP4 LRTOMT MAX MCM2 MDH2 MED12 MEFV MEN1 MPL MT-TS2 MVK MYD88 MYL2 MYL4 MYO6 MYO7A NABP1 NAGA NARS2 NF1 NF2 NKX2-5 NKX2-6 NOP56 NPM1 NPPA NUMA1 NUP155 OTOG OTOGL P4HA2 PCDH15 PDE1C PDGFB PDZD7 PITX2 PLS1 PML PNPT1 POLG PPIP5K2 PRKAR1A PRRT2 PTPN22 PTPRQ RARA RET RFC1 RIPOR2 RYR1 RYR2 SCD5 SCN1A SCN1B SCN2A SCN2B SCN3B SCN4B SCN5A SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SLC12A3 SLC17A8 SLC1A3 SLC25A11 SLC26A4 SLC39A14 SLC9A1 SOX6 STAT3 STAT4 STAT5B STRC SUFU TBC1D24 TBL1XR1 TECRL TET2 THOC1 THPO TIMM8A TLR4 TMC1 TMEM127 TMEM132E TNC TNFRSF1A TPK1 TRDN TRPM4 TTN TWNK UBAC2 USH1C USH1G VHL VSX1 WHRN ZBTB16 HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX CACNA1A CLIC5 ESPN FGF14 FXN KARS1 RFC1 HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY AAAS ABCA4 ACOX1 ADAR ADGRV1 AGBL5 AGK AHI1 AHR AIPL1 ALG3 ARHGEF18 ARHGEF2 ARL2BP ARL3 ARL6 ARSA ARSG ATF6 ATP1A3 ATXN1 ATXN3 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CC2D2A CDH23 CDHR1 CEP104 CEP19 CEP290 CEP78 CERKL CFAP418 CHM CIB2 CLCC1 CLCN7 CLN3 CLN5 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COL25A1 COX6B1 CRB1 CRX CWC27 CYP27A1 CYP4V2 DHDDS DHX38 DNM1L ELOVL4 EMC1 ERCC6 ERCC8 ESPN EYS FAM161A FLVCR1 FSCN2 FXN GALC GDF6 GJC2 GNAT1 GNAT2 GNB3 GNB5 GPR179 GRK1 GRM6 GUCA1A GUCA1B GUCY2D HADHA HARS1 HGSNAT HSD17B4 IDH3A IDH3B IDS IFT140 IFT172 IFT27 IFT74 IFT88 IMPDH1 IMPG1 IMPG2 IQCB1 KCNJ13 KIAA1549 KIF21A KIF3B KIZ KLHL7 LAMA2 LARGE1 LCA5 LRAT LRIT3 LRTOMT LZTFL1 MAK MCOLN1 MECR MERTK MFF MFN2 MFRP MKKS MKS1 MOGS MPDU1 MT-ATP6 MT-TS2 MYO7A NDRG1 NDUFS4 NEK2 NMNAT1 NOTCH3 NPHP1 NR2E3 NRL NUP54 NUP62 NYX OFD1 OPA1 OPN1LW OPN1MW OPN1SW OSTM1 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX12 PHOX2A PIEZO2 PLA2G6 PNPLA6 POGZ POLG POMGNT1 PPT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PSAP RAB18 RAB3GAP1 RAB3GAP2 RBP3 RD3 RDH11 RDH12 RDH5 REEP6 RGR RHO RLBP1 RNF216 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SCAPER SCLT1 SDCCAG8 SEMA4A SLC24A1 SLC25A22 SLC25A4 SLC7A14 SNRNP200 SNX10 SPATA7 SPG11 SSBP1 SUCLA2 TBC1D20 TCIRG1 TIMM8A TIMP3 TKFC TLCD3B TNFSF11 TOPORS TPP1 TRIM32 TRPM1 TTC8 TTLL5 TTPA TUB TUBA1A TUBB2B TUBB3 TUBB4B TULP1 TYR UCHL1 USH1C USH1G USH2A USP45 VSX1 WDPCP WHRN WWOX ZNF408 ZNF513 ZNF699 ZNHIT3 HP_ABNORMAL_VISUAL_FIELD_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIELD_TEST AKT1 BAP1 BRAF CDH23 COL25A1 CTNNB1 KIF21A MT-ATP6 NF2 PDGFB PHOX2A PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TUBA1A TUBB2B TUBB3 HP_ABNORMAL_VISUAL_FIXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIXATION AMPD2 ASAH1 ASPA ATF6 CCDC88A CLCN3 CLP1 CNGA3 CNGB3 DPM1 GBA1 GNAT2 ITPR1 OFD1 PDE6C PDE6H PET100 PIGB PTPN23 RANBP2 RNF13 RPGR SLC39A8 VPS13D VPS41 VPS4A HP_ABNORMAL_VITAMIN_B12_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITAMIN_B12_LEVEL ABCD1 ABCD4 AMN CASP10 CBLIF CUBN FAS FASLG GRM7 GUCY2C HLA-DQA1 HLA-DQB1 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT MTHFD1 MTR MTRR PRDX1 PRKCD RASGRP1 RNF13 SLC19A1 TCN2 HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY ARL3 ARSK ATOH7 BAP1 BCOR BEST1 CAPN5 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 COX7B CRB1 CRPPA CTNNB1 CYSLTR2 ERBB3 FZD4 GNA11 GNAQ HCCS HLA-A KCNJ13 LAMB2 LRP5 NDP NDUFB11 NF2 NR2E3 P3H2 PAK2 PAX6 PROC PRPF8 PRR12 RB1 RS1 SF3B1 SIX3 SMC5 TSPAN12 TTR VCAN ZNF408 ZSWIM6 HP_ABNORMAL_VOCAL_CORD_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VOCAL_CORD_MORPHOLOGY GIPC1 LRP12 MATR3 NOTCH2NLC RILPL1 HP_ABNORMAL_ZYGOMATIC_BONE_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ZYGOMATIC_BONE_MORPHOLOGY ACAN ACSL4 ADAMTSL4 AGL AIFM1 AMMECR1 APC ARID1B ARVCF ASPH ASXL3 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 BAZ1B BBS7 BCL7B BCR BGN BLM BMP2 BRAF BUB1B BUD23 CA2 CANT1 CCBE1 CDH11 CHD7 CLIP2 CNOT1 CNOT3 COG4 COL11A1 COL11A2 COL1A1 COL2A1 COL5A1 COL9A1 COL9A2 COL9A3 COMT CRKL CTDP1 CUL7 DCHS1 DDR2 DHODH DLG3 DNAJC30 DNMT3B DVL1 EBP EFTUD2 EHMT1 EIF4H ELN ERF ESCO2 FAM20C FAM50A FAT4 FBN1 FGFR1 FGFR2 FGFR3 FKBP6 FLNA FLNB FOXC1 FOXP1 FZD2 GATA1 GJA5 GJA8 GLI2 GORAB GP1BB GPC6 GRIA3 GSC GTF2I GTF2IRD1 GTF2IRD2 HBA1 HBA2 HBB HDAC4 HDAC8 HERC1 HIRA HNRNPH1 HS6ST2 HSPG2 INPPL1 IPO8 JMJD1C KCNE5 KCNH1 KCNJ2 KIF1A KIF22 KIF7 KRAS LARP7 LAS1L LIFR LIMK1 LMNA LRP2 LRP4 LRPPRC LTBP4 MAF MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAPK1 MBD5 MECP2 MED12 METTL27 MGP MLXIPL MYH3 NBAS NBN NCF1 NDP NECTIN1 NF1 NGF NONO NOTCH2 NOTCH3 NPR3 NSDHL NSMCE2 NTRK1 OBSL1 OFD1 PAX3 PCGF2 PDE4D PDZD8 PEPD PEX1 PEX12 PEX7 PIGA PIGT PIGU PIGV PIK3R1 PLOD3 POGZ POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POR POU1F1 PQBP1 PRMT7 PSMC3 PTH1R PYCR1 PYCR2 RAB23 RAB3GAP1 RAB3GAP2 RAI1 RBM8A RDH11 RFC2 RFX7 RHOA RLIM RNU12 RNU4ATAC ROR2 RPS26 RREB1 RSPRY1 RUNX2 SATB2 SCARF2 SEC23A SEC24C SEMA3E SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SHANK3 SHH SIX3 SLC26A2 SLC2A10 SLC35D1 SLC6A8 SMAD3 SMAD4 SNRPB SOST SP7 STAG2 STX1A TAT TBL1XR1 TBL2 TBX1 TBX22 TBX4 TCOF1 TFAP2A TFAP2B TFE3 TGDS TGFBR1 TGFBR2 TMEM165 TMEM237 TMEM270 TONSL TP63 TWIST1 TWIST2 UBE2A UFD1 VPS13B VPS37D WNT5A XRCC4 YY1 ZBTB20 ZNHIT3 HP_ABNORMAL_Z_DISC_MORPHOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_Z_DISC_MORPHOLOGY ACTN2 DES FXR1 KY LMOD2 SQSTM1 TNNT1 UNC45B HP_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSCESS ABCB4 ACVRL1 B2M BLM BRCA1 BRCA2 BTK CARMIL2 CDKN2A CTSC CYBA CYBB CYBC1 DDR2 DLX3 DMP1 ELANE ELF4 ENG ENPP1 FGF23 FGFR3 G6PC3 GJB2 GJB6 IGHG2 IGHM IGKC IKBKB IKZF3 IL10RA IL10RB IL17RA IL1RN IL6R IL6ST IRAK4 ITGB2 KRAS LCK LCP2 MEFV MNX1 MPEG1 MYD88 NCF1 NCF2 NCF4 NTRK1 OTULIN PALB2 PALLD PGM3 PHEX PI4KA PKHD1 PSEN1 PSENEN PSTPIP1 RABL3 RAC2 RIPK1 SMAD4 STAT3 TGFB1 TP53 TTC7A UBE2A VANGL1 WDR1 ZNF341 HP_ABSENCE_OF_LYMPH_NODE_GERMINAL_CENTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_LYMPH_NODE_GERMINAL_CENTER ADA CD40 CD40LG EPHB4 PTPRC SP110 HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT CHD7 CYP17A1 DCHS1 DHX37 DUSP6 ESR1 FAT4 FGF17 FGF8 FGFR1 GNRH1 GNRHR HS6ST1 IL17RD KISS1 KISS1R LMNA MAGEL2 NHLH2 NR0B1 NSMF NUP107 PROK2 PROKR2 RNF216 SIM1 SPRY4 TAC3 TACR3 WDR11 ZMPSTE24 HP_ABSENCE_OF_RENAL_CORTICOMEDULLARY_DIFFERENTIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_RENAL_CORTICOMEDULLARY_DIFFERENTIATION H4C3 IFNG INVS PAX2 PBX1 PKHD1 TSC2 HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS CHD7 CYB5A CYP11A1 CYP17A1 DHX37 DMRT3 DUSP6 ESR1 FGF17 FGF8 FGFR1 FOXA2 GATA4 GLI2 GNRH1 GNRHR HESX1 HS6ST1 KISS1 KISS1R LEP LEPR LHX4 MAP3K1 NHLH2 NR0B1 NR5A1 NSMF OTX2 POLA1 POU1F1 PROK2 PROKR2 PROP1 SOX3 SOX9 SPRY4 SRY TAC3 TACR3 VAMP7 WDR11 WT1 WWOX ZFPM2 HP_ABSENCE_OF_STOMACH_BUBBLE_ON_FETAL_SONOGRAPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_STOMACH_BUBBLE_ON_FETAL_SONOGRAPHY ADGRG6 FANCB KIF26A NUP88 TRIP11 ZBTB42 ZIC3 HP_ABSENCE_OF_SUBCUTANEOUS_FAT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SUBCUTANEOUS_FAT AARS1 CARS1 CAV1 ERCC2 ERCC3 ERCC4 FBN1 GTF2E2 GTF2H5 KCNJ6 LMNA MPLKIP PIK3R1 POLR3A PRIM1 RNF113A TARS1 ZMPSTE24 HP_ABSENCE_OF_THE_SACRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_THE_SACRUM CCL2 FANCB FUZ HAAO MNX1 NODAL PTH1R TBXT VANGL1 VANGL2 ZIC3 HP_ABSENT_AXILLARY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_AXILLARY_HAIR APOE AR CYP17A1 EPS8L3 GJB2 GJB6 HR ITGB4 LSS PPP2R3C SNRPE TBX3 ZBTB20 HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES ERCC4 ERCC6 ERCC8 KARS1 MOGS NEFL OPA1 OTOF RIPOR2 SOX10 SPTBN4 TIMM8A HP_ABSENT_CIRCULATING_B_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_CIRCULATING_B_CELLS BTK CD79A FNIP1 IGLL1 SLC39A7 SPI1 TNFRSF9 HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES HOXD13 IHH LMX1B RBBP8 TLK2 TPM2 HP_ABSENT_DISTAL_PHALANGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_PHALANGES CHUK DOCK6 KCNN3 LBR NOG SLC25A24 TGFBR2 HP_ABSENT_EARLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EARLOBE ATR ATRIP B4GALT7 CENPE CENPJ CEP152 COL3A1 CREBBP DNA2 EP300 ESCO2 HMX1 KMT2B NUP85 PCNT PLK4 POLR3A RBBP8 TRAIP ZNF407 HP_ABSENT_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EPIPHYSES ADAMTSL2 CANT1 CDC6 CHST3 COG1 COL11A2 COL2A1 COMP DYM EXTL3 GLB1 HS2ST1 IFT140 KIF22 LONP1 MATN3 PIK3C2A PLOD3 RNU4ATAC SMARCAL1 TRAPPC2 TRPV4 HP_ABSENT_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EYEBROW ALX1 ANAPC1 AXIN2 BRAF CDH3 CWC27 DSP EDA EDARADD FRAS1 GJA1 GJB6 HR JUP KRAS KRT85 LMNA LTV1 MAP2K2 MBTPS2 ODC1 PI4KA PKP1 POLR3A RECQL4 RIPK4 RNU12 SMARCA2 SOX18 TTC7A TWIST2 UBE3B UROS ZMPSTE24 HP_ABSENT_FACIAL_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FACIAL_HAIR ANAPC1 AR BRAF CDSN CWC27 DSP EDA EDARADD FGF10 FRAS1 GJB2 HOXC13 HR JUP KRT74 KRT85 LMNA LRP1 MBTPS2 NECTIN4 ODC1 PHGDH PKP1 POLR1B POLR1C POLR1D POLR3A RECQL RECQL4 RIPK4 RNU12 SF3B4 SOX18 TCOF1 TP63 TWIST2 ZBTB20 ZMPSTE24 HP_ABSENT_FINGERNAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FINGERNAIL APC ARHGAP31 ARID1A ARX ATP6V1B2 BCR CASK CDKL5 COL7A1 CRKL DLL4 DMXL2 DOCK6 DSP EOGT FIG4 GNAO1 GRIN1 GRM7 JUP KCNA1 KCNH1 KCNMA1 KCNN3 LRP4 MAPK1 NEUROD2 NOG NOTCH1 PIGP PIGQ PNKP PORCN RBPJ SCN1B SCN2A SIK1 SLC25A22 SLC32A1 TBC1D24 TRIM8 HP_ABSENT_FOVEAL_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FOVEAL_REFLEX ATF6 CACNA1F CNGA3 CNGB3 GNAT2 HPS6 OFD1 PDE6C PDE6G PDE6H PRPH2 RBP4 RDH5 RHO RLBP1 RPE65 RPGR TLCD3B HP_ABSENT_FRONTAL_SINUSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FRONTAL_SINUSES ATRX COL11A1 CTSK DNAI1 FLNA NOTCH2 RUNX2 TRIM37 HP_ABSENT_GALLBLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_GALLBLADDER CC2D2A CNOT1 FOXF1 GATA6 INTU RFX6 SON HP_ABSENT_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAIR ALX1 ANAPC1 APOE AR AXIN2 BRAF CDH3 CDSN CWC27 CYP17A1 DSP EDA EDARADD EPS8L3 FGF10 FRAS1 GJA1 GJB2 GJB6 GNRH1 HOXC13 HR ITGB4 JUP KRAS KRT74 KRT85 LMNA LRP1 LSS LTV1 MAP2K2 MBTPS2 NECTIN4 NR5A1 ODC1 PHGDH PI4KA PKP1 POLR1B POLR1C POLR1D POLR3A PPP2R3C RECQL RECQL4 RIPK4 RNU12 SF3B4 SMARCA2 SNRPE SOX18 TBX3 TCOF1 TP63 TTC7A TWIST2 UBE3B UROS ZBTB20 ZMPSTE24 HP_ABSENT_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAND ARHGAP31 BTRC DLL4 DLX5 DLX6 DOCK6 EOGT EPS15L1 FBXW4 IKBKG LMBR1 NOTCH1 PLXND1 RBPJ REV3L SEM1 TBX3 TP63 WNT10B HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES AMER1 FUCA1 RUNX2 SFRP4 SIX2 SMCHD1 HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS CFAP300 DNAAF11 DNAAF3 TTC12 ZMYND10 HP_ABSENT_INNER_DYNEIN_ARMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_DYNEIN_ARMS CCDC39 CFAP300 DNAAF1 DNAAF11 DNAAF3 DNAAF5 DNAH7 TTC12 ZMYND10 HP_ABSENT_LACRIMAL_PUNCTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_LACRIMAL_PUNCTUM FGF10 FGFR2 FGFR3 TP63 UBR1 HP_ABSENT_NIPPLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_NIPPLE CDH11 EDA EDARADD FIG4 KMT2D PTPRF RSPO2 SLC25A24 TP63 TWIST2 HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES ALPL BMPER COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 FLNB IFT80 LBR SLC26A2 SOX9 TRIP11 VPS35L WDR35 HP_ABSENT_OUTER_DYNEIN_ARMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OUTER_DYNEIN_ARMS CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF3 DNAAF5 DNAH9 DNAI1 DNAI2 DNAL1 ODAD1 ODAD3 TTC12 ZMYND10 HP_ABSENT_PALMAR_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PALMAR_CREASE DOK7 KIF21A MUSK MYH3 MYOD1 NALCN NUP88 PIEZO2 RAPSN RIPK4 SLC18A3 SLC39A13 TUBA1A HP_ABSENT_PATELLAR_REFLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PATELLAR_REFLEXES ERLIN1 FBLN5 GNB4 HSPB3 IL6ST KLHL9 LIFR MFN2 MYH14 PMP2 PSMC1 SMN1 SMN2 WARS1 HP_ABSENT_PHALANGEAL_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PHALANGEAL_CREASE COL1A2 HOXD13 IHH LMX1B MASP1 MET MYH3 NOG PIEZO2 RBBP8 ROR2 TBX15 TLK2 TNNI2 TPM2 HP_ABSENT_PUBIC_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PUBIC_HAIR AR CYP17A1 EPS8L3 GJB2 GJB6 GNRH1 HR ITGB4 NR5A1 HP_ABSENT_RADIUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_RADIUS CHD7 CHN1 DONSON ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCL FGFR2 FLNB GLI3 LMBR1 MAFB RBM8A RECQL4 RIPK4 RPL26 SALL4 SF3B4 TBX3 TBX5 TRIO XRCC2 ZIC3 HP_ABSENT_SEPTUM_PELLUCIDUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SEPTUM_PELLUCIDUM ARNT2 B3GALNT2 B4GAT1 CDC42BPB CDON CILK1 CNOT1 COL18A1 COL4A1 COX7B CPLX1 CRPPA CSGALNACT1 CSPP1 CTBP1 DAG1 DHCR24 DYNC1I2 EHMT1 EZH2 FANCI FGFR1 FGFR2 FGFRL1 FKRP FKTN FOXA2 GLI2 GPR161 HCCS HESX1 HYLS1 KIAA0586 KIF7 KRAS L1CAM LARGE1 LETM1 LHX4 MBTPS2 MUSK NDUFB11 NFIX NSD2 OTX2 PIEZO2 PIGA PLCH1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPP1R12A PROKR2 PROP1 PTDSS1 ROBO1 RSPO2 RXYLT1 SOX2 SOX3 SSR4 STAG2 WDR11 WNT3 HP_ABSENT_SKIN_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SKIN_PIGMENTATION KIT MC1R OCA2 TYR TYRP1 HP_ABSENT_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPEECH ABHD16A ACOX1 ACTL6B ADARB1 ADNP ADSL AGTPBP1 AIMP1 AIMP2 ALDH18A1 ALG11 ALG14 AMPD2 AP1S2 AP3B2 ARFGEF1 ARID1A ARID1B ARID2 ARL13B ASH1L ASPA ASXL3 ATG7 ATN1 ATP10A ATP1A2 ATP5F1A ATP6V1A ATP9A BCAS3 BCL11B BLTP1 BMP4 BRAT1 C2CD3 CACNA1B CACNA1E CACNA1I CACNA2D1 CACNA2D2 CAMK2A CAMK2B CARS2 CASK CASZ1 CCDC47 CCDC88A CCND2 CDC42 CDON CENPJ CHAMP1 CHKA CHMP1A CLCN3 CLCN4 CLIC2 CLP1 CLPB CLTC CNKSR2 CNNM2 CNTNAP2 COG4 COG8 COPB1 CPLX1 CRBN CREBBP CSNK2A1 CSPP1 CTNNA2 CUL4B CYFIP2 DAG1 DALRD3 DARS2 DCPS DEAF1 DEGS1 DENND5A DHX30 DISP1 DLL1 DNM1 DNM1L DOCK3 DOCK7 DOHH DOLK DPAGT1 DPF2 DPH5 DPM2 DPYD DPYSL5 DYRK1A EARS2 EBP EEF1A2 EIF2AK2 EIF3F ELP2 EP300 ERLIN2 EXOSC3 EXOSC5 EXTL3 FARS2 FGF12 FGF13 FGF8 FGFR1 FKRP FKTN FOXG1 FOXH1 FOXRED1 FRA10AC1 FRMD4A FRMPD4 FRRS1L GABBR2 GABRB2 GABRD GABRG2 GAMT GAS1 GEMIN4 GET4 GFM2 GLI2 GMPPB GNAI1 GNAO1 GNB5 GNS GOT2 GPT2 GRIA1 GRIA2 GRIA4 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GSX2 H4C11 HCN1 HDAC4 HECW2 HEPACAM HERC1 HID1 HIKESHI HIVEP2 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HSD17B10 HSPG2 HTT HUWE1 IARS1 IFIH1 INTS1 INTS8 IQSEC1 IQSEC2 IREB2 IRF2BPL ISCA2 KARS1 KAT6A KCNA2 KCNAB2 KCNB1 KCNC2 KCNH1 KCNJ10 KCNQ5 KCTD7 KIAA0586 KIF15 KIF1A KIF5C KLHL15 KMT5B LARGE1 LAS1L LINGO1 LINS1 LIPT2 LMAN2L LMNB1 LNPK LUZP1 MAB21L1 MACF1 MAGEL2 MAST1 MBOAT7 MCOLN1 MDH2 MECP2 MED12 MED25 MEF2C MFF MFSD2A MINPP1 MKS1 MMP23B MPDU1 MRPL12 MRPS34 MSL3 NACC1 NALCN NCAPD2 NCAPG2 NEDD4L NEXMIF NFIX NGLY1 NODAL NR2F1 NSD1 NSRP1 NTNG2 NTRK2 OCA2 ODC1 OPHN1 OTUD6B PACS1 PARS2 PCGF2 PDPN PGAP1 PGAP2 PGAP3 PIGA PIGF PIGG PIGN PIGP PIGS PIGV PIGW PLCH1 PLK4 PLP1 PMPCB PNPT1 POGZ POLR3K POLRMT POMT1 POMT2 POT1 PPFIBP1 PPIL1 PPP2R1A PPP2R5D PPP3CA PRDM16 PRKCZ PRPS1 PRUNE1 PSMB1 PSMC1 PTCH1 PURA PUS3 PYCR2 RAB11B RAB18 RAB3GAP2 RAB5IF RAC1 RALA RALGAPA1 RARS2 RERE RHOBTB2 RMND1 RNU7-1 RPL10 SATB1 SATB2 SCN1A SCN3A SERAC1 SETBP1 SHH SHQ1 SHROOM4 SIK1 SIX3 SKI SLC12A2 SLC12A6 SLC13A5 SLC1A2 SLC1A4 SLC25A12 SLC2A1 SLC33A1 SLC35A2 SLC35B2 SLC38A3 SLC39A14 SLC6A17 SLC6A3 SLC9A6 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMS SNRPN SNX14 SOD1 SOX11 SOX4 SPATA5 SPEN SPTBN1 SPTBN4 SRCAP ST3GAL5 STAG2 STIL STRADA STXBP1 SUOX SUPT16H SYNGAP1 SYT1 SZT2 TAF2 TANGO2 TBC1D20 TBCD TBCE TBL1XR1 TCF4 TCTN2 TDGF1 TELO2 TFE3 TGIF1 TIMM50 TKT TMCO1 TMEM106B TMEM147 TMEM231 TMTC3 TNPO2 TOE1 TOGARAM1 TOR1A TRAPPC10 TRAPPC11 TRAPPC2L TRAPPC6B TREX1 TRIM8 TRIO TRIT1 TRPM3 TRPV6 TRRAP TTC5 TUBA8 TUBB2A UBA5 UBE2A UBE3A UBE3B UBE4B UBTF UFC1 UFM1 UFSP2 UGP2 UNC80 UQCRQ USP27X USP7 VARS1 VPS11 VPS33A VPS41 VPS4A WAC WARS1 WARS2 WDR26 WDR37 WDR4 WDR45 WDR45B YME1L1 YY1 ZBTB18 ZC4H2 ZEB2 ZIC2 ZSWIM6 HP_ABSENT_SPERM_FLAGELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPERM_FLAGELLA AK7 AKAP3 ARMC2 CCDC34 CFAP251 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP91 DNAH1 DNAH10 DNAH17 DNAH2 DNAH8 DNHD1 DRC1 DZIP1 FSIP2 QRICH2 SPEF2 SSX1 TTC21A TTC29 WDR19 HP_ABSENT_STERNAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_STERNAL_OSSIFICATION FIG4 ORC1 ORC6 SOX9 VAC14 HP_ABSENT_TESTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TESTIS BRCA1 BRCA2 BRIP1 DHX37 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GDF6 MAD2L2 PALB2 RAD51 RAD51C RFWD3 SLX4 TCTN3 UBE2T XRCC2 HP_ABSENT_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMB ADA2 CUL3 DONSON ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FGF10 FGFR2 FGFR3 FIG4 GATA1 HEATR3 PSMD12 RAD51 RAD51C RBM8A RECQL4 RFWD3 RIPK4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 SALL4 SF3B4 SLX4 SON TBX5 TSR2 VAC14 XRCC2 HP_ABSENT_THUMBNAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMBNAIL ARX ATP6V1B2 CASK CDKL5 DMXL2 GNAO1 GRIN1 GRM7 KCNA1 KCNH1 NEUROD2 PIGP PIGQ PNKP SCN1B SCN2A SIK1 SLC25A22 SLC32A1 TRIM8 HP_ABSENT_TIBIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TIBIA ATP7A CHD7 DYNC2H1 GLI3 LMBR1 PITX1 HP_ABSENT_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOE ABCC9 ACVR1 APC ARHGAP31 ARID1B ARSL BHLHA9 BMP2 BMPR1B CHST11 CHSY1 CPLX1 CTBP1 DACT1 DLL4 DLX5 DOCK6 EIF4A3 EOGT FGFR1 FGFR2 FGFRL1 FIG4 FLNA GDF5 GJA1 GLI3 GPC4 HOXA13 HOXD13 IHH KAT6A KCNH1 KCNJ8 KCNN3 LETM1 LMBR1 LMNA LRP4 MAP3K20 MGP NEK1 NELFA NOG NOTCH1 NOTCH2 NSD2 NSDHL PIGF PIGG PORCN PTHLH PUF60 RBPJ RIPK4 ROBO1 ROR2 SALL1 SALL4 SF3B4 SMARCA4 SMOC1 TPR TRPV4 VAC14 WNT10B WNT7A HP_ABSENT_TOENAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOENAIL APC ARID1A ATP6V1B2 BCR COL7A1 CRKL DSP GPC4 JUP KCNH1 KCNN3 KRT14 LRP4 MAPK1 NOTCH1 PIGF PORCN WNT7A HP_ABSENT_VAS_DEFERENS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_VAS_DEFERENS ADGRG2 AR CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 HNF1B KCNN4 MIF SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 HP_ABULIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABULIA CHMP2B GRN HTRA1 MAPT NOTCH3 PSEN1 SQSTM1 TMEM106B TREM2 VCP HP_ACANTHOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOCYTOSIS APOB CAD CYP4F22 GATA1 KCNN4 MTTP PANK2 SAR1B SC5D SPTB TOR1A VPS13A XK HP_ACANTHOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOLYSIS ATP2A2 ATP2C1 CAST DSG1 DSP HLA-B IKZF1 JUP KRT2 HP_ACANTHOSIS_NIGRICANS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOSIS_NIGRICANS ABCC8 AFF4 AGPAT2 AIP AKT2 ALMS1 APPL1 BLK BSCL2 BUB1 CAV1 CAVIN1 CEL CHD8 CIDEC CLDN1 COPB1 CUL4B CYP19A1 ELOVL1 ERF ESR1 FGFR2 FGFR3 FOS FOXG1 GCK GPR101 HNF1A HNF4A HRAS HSD11B1 INS INSR JARID2 JUP KCNJ11 KLF11 LIPE LMNA MC4R NEUROD1 NSMCE2 PAX4 PCSK1 PDX1 PEX1 PEX6 PKDCC PLIN1 POLR3A POMC PPARG PSMB4 PSMB8 PSMB9 SMARCD2 SPINK5 SUPT16H TFE3 XRCC4 HP_ACCELERATED_ATHEROSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_ATHEROSCLEROSIS ABCA1 ABCC6 APOE CELA2A CYP7A1 LMNA XYLT1 XYLT2 HP_ACCELERATED_SKELETAL_MATURATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_SKELETAL_MATURATION ABCC9 ACAN AGPAT2 AIP ALMS1 APC2 ARCN1 ASXL2 B3GAT3 B4GALT7 BSCL2 CANT1 CAV1 CAVIN1 CDKN1C CHST3 CSGALNACT1 CYP11B1 CYP19A1 DDOST DDX6 EED EZH2 FOS GLI3 GNAS GPC3 GPC4 GPR101 GPX4 GUSB H1-4 HSD11B1 IGF2 INPPL1 INSR KCNJ8 KCNQ1 KCNQ1OT1 KMT2A LEP LEPR LHCGR MC2R MEN1 MKRN3 NFIX NSD1 PDE4D PPARG PRKAR1A PRKG2 PTCH1 PTH1R RMRP RNF135 SETD2 SHANK3 SLC10A7 SLC26A2 SLC35D1 SMARCA2 SUZ12 TCF20 TET3 TRPS1 TSHR UBE3C XYLT1 HP_ACCESSORY_ORAL_FRENULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_ORAL_FRENULUM C2CD3 CD96 CHUK CPLANE1 DDX59 DYNC2LI1 EFTUD2 FLNA GLI3 IFT140 IFT57 KIAA0586 OFD1 PRKACA PRKACB SCNM1 TCTN3 TELO2 HP_ACCESSORY_SPLEEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_SPLEEN ATP6AP1 B9D1 B9D2 CC2D2A CENPF CEP290 CPLX1 CREBBP CSPP1 CTBP1 EP300 ESCO2 EXOC2 FGFRL1 HYLS1 LETM1 LTBP4 MKS1 MYCN MYRF NSD2 PPP2R3C PRIM1 RPGRIP1 RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WT1 YARS1 HP_ACEPHALIC_SPERMATOZOA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACEPHALIC_SPERMATOZOA BRDT CEP112 PMFBP1 SUN5 TSGA10 HP_ACETABULAR_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_DYSPLASIA AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 B3GALT6 CHRNG COL25A1 COMP EIF4A3 ERGIC1 EXTL3 GLB1 GUSB MYO18B NRCAM POLR1A RPS15A SCYL2 SLC26A2 SLC35A3 TIMM22 VPS33A HP_ACETABULAR_SPURS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_SPURS COL2A1 DYNC2H1 DYNC2I1 DYNLT2B EVC EVC2 WDR19 HP_ACHILLES_TENDON_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHILLES_TENDON_CONTRACTURE ABCC9 ABHD12 ACTA1 ADAT3 ALS2 BICD2 COL12A1 COL6A1 COL6A2 COL6A3 CRPPA DMD EMD FHL1 FKRP FKTN GJB1 GNS HINT1 HRAS JAG2 KY LARGE1 LMNA LMX1B MARS1 MEGF10 MT-TE MYOT NGLY1 NSUN2 OPA1 PLEC POMT1 PTRH2 PYROXD1 SCN4A SGCA SGCG SLC12A6 SLC25A4 SLC39A14 SYNE1 SYNE2 TMEM43 TNNT1 TTN UFC1 ZC4H2 HP_ACHOLIC_STOOLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHOLIC_STOOLS BRCA1 BRCA2 CYP7B1 DCDC2 HSD3B7 MYO5B PTPN3 RFX6 HP_ACHROMATOPSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHROMATOPSIA ATF6 CNGA3 CNGB3 GNAT2 NBAS HP_ACIDEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACIDEMIA ABCD4 ACSF3 ALDH6A1 CD320 DNAJC19 ETFA ETFB ETFDH GCDH HCFC1 IDH2 L2HGDH LMBRD1 MMAA MMAB MMACHC MMADHC MMUT MTR MTRR PAH PRDX1 SUCLA2 SUCLG1 SUGCT HP_ACNE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE ABCC6 AGA AIP AR ARMC5 ARVCF ATRX BRAF C4A CCR1 CDH23 CLN3 COMT CYP11B1 ECM1 ENPP1 ERAP1 ESR1 FAS FGFR2 GJB2 GJB6 GNAS GP1BB GPR101 H6PD HIRA HLA-B HPGD HYOU1 IFNGR1 IKBKB IL10 IL12A IL12A-AS1 IL23R JMJD1C KDF1 KLRC4 KRT5 LHCGR LPIN2 MEFV MEIS2 NCSTN NR3C1 PAPSS2 POFUT1 POGLUT1 PRKACA PSEN1 PSENEN PSTPIP1 RBP4 RREB1 SEC24C SH3PXD2B SLCO2A1 STAT4 TBX1 TLR4 TP53 UBAC2 UFD1 USP48 USP8 WNT4 XIAP XYLT1 HP_ACNE_INVERSA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE_INVERSA GJB2 GJB6 HYOU1 IKBKB KDF1 KRT5 MEFV NCSTN POFUT1 POGLUT1 PSEN1 PSENEN HP_ACQUIRED_ABNORMAL_HAIR_PATTERN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN ABCD1 ALMS1 ANTXR1 AP2M1 APC BLM CHD2 CNBP COL17A1 DMPK DSG4 EBP ECM1 EXOSC2 GJA5 GJA8 HR HRAS IKBKG IL2RA ITGB4 KCTD1 KDM5C KRT81 KRT83 KRT86 LAMB3 LMNA NECTIN4 NEXMIF NR3C1 PADI3 PORCN PQBP1 SCN1A SLC2A1 SLC6A1 SYNGAP1 TGM3 TP63 TRAC WNT4 ZMPSTE24 HP_ACRAL_BLISTERING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_BLISTERING COL17A1 COL7A1 FBXO28 FERMT1 ITGB4 KRT14 KRT5 PLEC SMARCAD1 HP_ACRAL_OVERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_OVERGROWTH AIP CAVIN1 GNAS GPR101 PRKAR1A HP_ACRAL_ULCERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_ULCERATION CCT5 KIF1A MPV17 NGF NTRK1 RETREG1 SCN9A SPTLC1 WNK1 HP_ACROMESOMELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMESOMELIA GDF5 KIF15 NGLY1 NPR2 RAC1 HP_ACROMICRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMICRIA DLK1 GH1 HERC2 MAGEL2 MEG3 MKRN3 NPAP1 PWAR1 PWRN1 RTL1 SLC26A2 SNORD115-1 SNORD116-1 HP_ACROPARESTHESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROPARESTHESIA COMP GALC HEXB LMX1B PMP22 PRNP SLC26A2 SPTLC2 HP_ACTION_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACTION_TREMOR AARS1 ABCB7 ABHD12 ACBD5 ADPRS AFG3L2 AKT1 ALDH18A1 ALS2 AMACR ANO10 ANO3 ARSA ATCAY ATM ATN1 ATP13A2 ATP2B3 ATP6AP2 ATXN1 ATXN10 ATXN2 BRAT1 BSCL2 CACNA1A CACNA1C CACNA1G CAMTA1 CARS1 CARS2 CCDC88C CLCN2 COL6A3 COQ2 CSTB CTDP1 CWF19L1 CYP7B1 DNAJC19 DNAJC30 DRD3 EIF2AK2 ELOVL4 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 FARS2 FBXO7 FGF14 FLVCR1 FMR1 FUS FXN GABRA1 GABRG2 GALT GCH1 GGT1 GJB1 GJC2 GRIK2 GSS GTF2E2 GTF2H5 HIBCH HSD17B4 HSPD1 HYCC1 IFRD1 IMPDH2 ITM2B ITPR1 JPH3 KARS1 KCNC3 KCND3 KCNJ10 KCNK4 KCNN2 KIF1C KNSTRN LAMA1 LEMD2 LMAN2L LMNB1 MAG MAOA MFN2 MPLKIP MPZ MRE11 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MYBPC1 NDRG1 NDUFS2 NFASC NGLY1 NIPA1 NKX2-1 NKX6-2 NOL3 NONO NOP56 NOTCH2NLC NPTX1 NR4A2 OPA3 OPHN1 PARK7 PCDH19 PDGFB PEX10 PI4KA PIGA PIK3CA PIK3CD PIK3R5 PITRM1 PLA2G6 PLP1 PMM2 PMP22 PNPLA6 POLG POLR3A POLR3B POU4F1 PPP1R15B PPP2R2B PRDX3 PRICKLE1 PRKRA PSAP PTEN QRICH1 RARS1 REEP2 RFC1 RILPL1 RNF113A RNU12 SACS SCARB2 SCN1A SCN1B SCN2A SCN9A SCP2 SCYL1 SEMA6B SETX SIGMAR1 SLC19A3 SLC25A46 SLC30A10 SLC9A1 SMG9 SNCA SPG11 SPTBN1 SPTBN2 SPTLC1 STUB1 TARS1 TBP TECR TENM4 TGM6 TH THG1L TK2 TMCO1 TMEM106B TMEM240 TMEM63A TMEM70 TPK1 TPP1 TPR TSPOAP1 TTR TUBB4A UCHL1 UFC1 UROC1 VAPB VLDLR VPS13A VWA3B WARS2 WDR81 XPNPEP3 YWHAG HP_ACUTE_ENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_ENCEPHALOPATHY ACY1 ATP5F1A COG8 MYRF NDUFS4 PCCA PCCB RANBP2 SLC22A5 SLC25A15 SQOR TRAF3 HP_ACUTE_HEPATIC_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_HEPATIC_FAILURE ACAD9 ATP7B CACNA1S CALR CYC1 EIF2AK3 F5 FAH GFM1 GPR35 HADH HLA-B IKZF1 IL18BP ITCH JAK2 KRT18 LARS1 LIPA MEFV MPV17 MST1 NBAS POLG POLG2 PORCN RINT1 RYR1 SCYL1 SEMA4D SH2D1A TCF4 TRMU XIAP ZNFX1 HP_ACUTE_INFECTIOUS_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_INFECTIOUS_PNEUMONIA CFTR CSF2RA CSF2RB SCNN1A SCNN1B SCNN1G HP_ACUTE_KIDNEY_INJURY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_KIDNEY_INJURY ALDOA APRT BSND C3 CACNA1S CCND1 CD46 CFB CFH CFHR1 CFHR3 CFI CLCNKA CLCNKB CORIN DGKE DZIP1L FLT1 HELLPAR HNF1B HPRT1 IFT140 LDHA LPIN1 MT-CO1 MT-CO3 OBSCN PIGA PKHD1 PRPS1 PYGM RYR1 SAA1 SLC22A12 SLC26A1 SLC2A9 STAT2 STOX1 TCN2 THBD HP_ACUTE_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LEUKEMIA ABL1 ADA2 ADH5 APC2 ASXL1 ATM ATRX BAX BCR BLM BRCA2 BUB1 BUB1B BUB3 CALR CDKN2A CEBPA CEP57 CHEK2 CHIC2 CLPB DDX41 DKC1 DNAJC21 DNMT3A DUT DYNC2LI1 EFL1 ELANE ERBB3 ETV6 EVC EVC2 FLT3 GATA1 GATA2 GFI1 GLI1 GNB1 HAX1 HEATR3 IDH1 IKZF1 JAK2 KIT KRAS LIG4 LPP MBD4 MDM2 MEFV MLLT10 MPL MSH2 NBN NPM1 NSD1 NSUN2 NUMA1 NUP214 PICALM PIGL PRKACA PRKACB RARA RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SBDS SETD2 SF3B1 SH2B3 SH3GL1 SMPD1 SPRED1 SRP19 SRP54 SRSF2 STS TAL1 TAL2 TCF3 TCIRG1 TERT TET2 THPO TP53 TREM2 TRIP13 TSR2 TYROBP UBE2T WAS WIPF1 XRCC4 HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA ABL1 APC2 ATM BAX BCR BLM BRCA2 BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 CLPB DUT ELANE ETV6 FLT3 GFI1 GNB1 HAX1 IKZF1 LIG4 MDM2 MSH2 NBN NSD1 NSUN2 NUP214 PIGL SETD2 SRP19 SRP54 TAL1 TAL2 TCF3 TCIRG1 TP53 TRIP13 HP_ACUTE_MYELOID_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_MYELOID_LEUKEMIA ADA2 ADH5 ASXL1 BLM BRCA2 CDKN2A CEBPA CHEK2 CHIC2 CLPB DDX41 DKC1 DNAJC21 DNMT3A EFL1 ELANE ERBB3 ETV6 FLT3 GATA1 GATA2 GFI1 HEATR3 JAK2 KIT KRAS LPP MBD4 MDM2 MEFV MLLT10 MPL NPM1 NUP214 PICALM RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SBDS SF3B1 SH3GL1 SRP19 SRP54 SRSF2 TCIRG1 TERT TET2 THPO TP53 TSR2 UBE2T HP_ACUTE_OTITIS_MEDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_OTITIS_MEDIA CIITA JAK3 RFX5 RFXANK RFXAP HP_ACUTE_PANCREATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PANCREATITIS AGPAT2 APOE BSCL2 CYBC1 HMGCL LMNA NSMCE2 RNU7-1 HP_ACUTE_PHASE_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PHASE_RESPONSE ADA2 ADORA2A AIRE ANKRD55 AP1S3 ARPC1B BCS1L BMP2 BMP6 C1QB C2orf69 CARD10 CASP10 CASR CD244 CD247 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CFTR CIITA CLDN16 CLDN19 COPA CP CPA1 CPOX CTLA4 CTRC CYP24A1 CYP27B1 CYP2R1 CYP3A4 DEF6 DLST ELF4 FAM20A FH FOCAD FTH1 FTL GCM2 GLRX5 GNAS GNAS-AS1 HAMP HAVCR2 HBB HFE HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 IFIH1 IFNG IFNGR1 IL10 IL1R1 IL1RN IL2RA IL2RB IL36RN IL37 IL6 IL6ST IRAK1 ITGB2 ITK KARS1 KCNN4 KIF1B KL LACC1 LBR LPIN2 LYST MAX MCM10 MDH2 MEFV MEN1 MIF MVK MYD88 NCF4 NF1 NFKBIL1 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 OCRL OTULIN P4HA2 PDE4D PHEX PIEZO1 PIK3CG PKLR POMP PRF1 PRKAR1A PRKCD PRSS1 PRSS2 PRTN3 PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTH PTPN2 PTPN22 PUS1 RET RNU4ATAC SAT1 SDHA SDHAF2 SDHB SDHC SDHD SH2D1A SLC19A1 SLC22A4 SLC25A11 SLC25A38 SLC29A3 SLC34A1 SLC34A3 SLC40A1 SLC4A1 SLC7A7 SOST SPINK1 SPP1 STAT2 STAT4 STEAP3 STING1 STX11 STX16 STXBP2 SYK TBCE TBK1 TBX1 TFR2 TGFB1 TICAM1 TLR3 TMEM127 TMPRSS6 TNFRSF1A TRAF3 TREX1 TRPV6 TTC26 UBA1 UNC13D UNC93B1 VDR VHL XIAP ZNFX1 HP_ACUTE_RHABDOMYOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_RHABDOMYOLYSIS CACNA1S CTDP1 LPIN1 RYR1 TANGO2 HP_ADDUCTED_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADDUCTED_THUMB ABCD1 ACTA1 ADGRG6 ALDH18A1 ALG13 ALG3 ANKLE2 AP4M1 ATAD1 ATP7A B3GALT6 BAZ1B BCL7B BICD2 BLTP1 BUD23 CHST11 CHST14 CLIP2 COG7 COL12A1 COL6A1 COL6A2 COL6A3 CREBBP CRLF1 CRPPA DLK1 DNAJC30 DPH2 DSE ECE1 ECEL1 EDN3 EDNRB EIF4H ELN EP300 EPB41L1 ERBB2 ERBB3 ERCC1 EXOSC9 FBLN5 FBN1 FBN2 FKBP6 GDNF GNB1 GON7 GPKOW GTF2I GTF2IRD1 GTF2IRD2 KATNB1 KCNH1 KLHL40 KLHL41 L1CAM LAGE3 LIFR LIMK1 LMOD3 MED25 MEG3 METTL27 MLXIPL MSL3 MYBPC1 MYH3 MYL11 NALCN NCF1 NDE1 NEB NEK9 NRTN NUP107 NUP133 OSGEP PCGF2 PHGDH PIGY RBM8A RELN RET RFC2 RFT1 RTL1 SEMA3C SEMA3D SHMT2 SLC35B2 SLC9A6 SMO SMPD4 SREBF1 STUB1 STX1A SYNE1 TAPT1 TBL2 TDO2 TGDS TMEM270 TNNI2 TNNT3 TOR1A TP53RK TPM2 TPRKB VPS37D WDR4 WDR73 YRDC ZEB2 HP_ADENOCARCINOMA_OF_THE_COLON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_COLON AAGAB ADA2 BMPR1A COL14A1 GATA1 GREM1 HEATR3 MAD1L1 MLH1 MUTYH POLD1 POLE RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2 HP_ADENOCARCINOMA_OF_THE_INTESTINES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_INTESTINES AAGAB ADA2 APC BMPR1A COL14A1 GATA1 GPR35 GREM1 HEATR3 MAD1L1 MLH1 MSH2 MST1 MUTYH NTHL1 POLD1 POLE RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEMA4D SMAD4 TCF4 TSR2 HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE AAGAB APC BMPR1A COL14A1 GREM1 MLH1 MSH2 NTHL1 SMAD4 HP_ADENOMATOUS_COLONIC_POLYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMATOUS_COLONIC_POLYPOSIS APC AXIN2 BMPR1A ENG EPCAM GREM1 MBD4 MLH1 MSH3 MUTYH NTHL1 PMS2 POLD1 POLE PTEN RNF43 SMAD4 HP_ADENOMA_SEBACEUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMA_SEBACEUM AKT1 HRAS IFNG KLLN KRAS KRT17 MEN1 MLH1 MSH2 MSH6 NRAS PIK3CA PLCD1 PTEN SDHB SDHC SDHD SEC23B TSC1 TSC2 USF3 HP_ADIPOSE_TISSUE_LOSS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADIPOSE_TISSUE_LOSS AARS1 AGPAT2 BLM BSCL2 CARS1 CAV1 CAVIN1 CIDEC ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 FBN1 FOS GTF2E2 GTF2H5 INSR KCNJ6 LIPE LMNA LMNB2 MPLKIP PIK3R1 PLIN1 POLD1 POLR3A PPARG PRIM1 PSMB8 RNF113A TARS1 ZMPSTE24 HP_ADRENAL_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPERPLASIA AIRE ARMC5 ATP6V1B2 ATRX BRAF CACNA1D CDH23 CLCN2 CYP11B1 CYP11B2 CYP17A1 CYP21A2 GNAS HSD3B2 KCNJ5 NR3C1 PDE8B POR PRKACA STAR TBC1D24 TP53 USP48 USP8 HP_ADRENAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPOPLASIA ABCD1 ADH5 BCAP31 BMP4 CCDC22 CDKN1C CDON CILK1 CYP11A1 DPYSL5 GLI3 GPR161 HESX1 LHX4 LMNA LTBP4 MKS1 MTHFR NR0B1 NSDHL NUAK2 PEX1 POLE POMC PROKR2 ROBO1 SAMD9 SIX3 TBC1D7 TBX19 TNXB VANGL2 VPS35L WASHC5 WDR11 ZMPSTE24 HP_ADRENAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_INSUFFICIENCY AAAS ABCD1 AIP AIRE AKT1 BAP1 BCOR BRAF CDH23 CTNNB1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 DHX37 DMRT3 GATA4 GATB GATC GK GLI3 GMPPA HBB HERC2 HSD11B2 HSD17B4 HSD3B2 IARS2 KANSL1 LHX4 LIPA MAGEL2 MAP3K1 MC2R MCM4 MEN1 MKRN3 MRAP MRPS25 MRPS7 NDN NDUFAF5 NF2 NFKB2 NFS1 NNT NPAP1 NR0B1 NR3C1 NR3C2 NR5A1 OCA2 PCSK1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA POMC POR PROP1 PWAR1 PWRN1 QRSL1 RBM28 ROBO1 SAA1 SAMD9 SCNN1A SCNN1B SCNN1G SERPINA6 SGPL1 SMARCB1 SMARCE1 SMO SNORD115-1 SNORD116-1 SNRPN SOX9 SRY STAR STEAP3 SUFU TBCK TBX19 TCTN3 TERT TRAF7 TRAPPC11 TXNRD2 VAMP7 WT1 WWOX ZFPM2 HP_ADRENAL_OVERACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_OVERACTIVITY AIRE ARMC5 ATRX BRAF BSND CACNA1D CACNA1H CBX2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CLCN2 CLCNKA CLCNKB CTNNB1 CYP11A1 CYP11B1 CYP11B2 GNAS HTR1A INSR KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ2 KCNJ5 MEN1 NR3C1 NR3C2 OCRL PDE11A PDE8B POR PRKACA PRKAR1A RET SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3 TERT TP53 USP48 USP8 ZNRF3 HP_ADRENOCORTICAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ABNORMALITY ABCD1 CDKN1A CDKN1B CDKN2B CDKN2C GK MEN1 NKX2-6 PDE11A PLXND1 PRKAR1A HP_ADRENOCORTICAL_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ADENOMA APC CACNA1S CDKN1B CLCN2 CYP11B1 CYP11B2 KCNE3 MEN1 SCN4A HP_ADRENOCORTICAL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_CARCINOMA APC CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHEK2 CTNNB1 IGF2 KCNQ1 KCNQ1OT1 MDM2 MEN1 PRKAR1A TERT TP53 ZNRF3 HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY AIP ARNT2 CDH23 CDKN2A CTNNB1 GLI3 LHX3 MEN1 POMC POU3F4 PRKAR1A TBX19 TERT TP53 ZNRF3 HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS ABCD1 CYP11A1 CYP17A1 HSD3B2 MCM4 HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY AIP CDH23 MEN1 NFKB2 RBM28 TBX19 HP_ADULT_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET AAAS AAGAB AARS1 AARS2 ABCA4 ABCA7 ABCB4 ABCC1 ABCC8 ABCC9 ABCG8 ABHD12 ACD ACTA1 ACTC1 ACTG1 ACTN2 ACVR1B ADGRG2 ADH1C AFG3L2 AGBL1 AIP AK7 AKAP3 AKT1 AKT2 ALDH18A1 ALDH5A1 ALG10B ALG5 ALOX5AP AMACR ANKH ANLN ANO10 ANO3 ANO5 ANXA11 ANXA5 AOPEP AP5Z1 APC APOA1 APOE APP APPL1 APTX AR ARHGEF10 ARHGEF18 ARL2BP ARMC5 ASTL ATL1 ATL3 ATN1 ATP11A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B2 ATP5MC3 ATP6AP2 ATP6V0A1 ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS AUH AURKC B2M B4GALNT1 BAG3 BAG5 BAP1 BBS2 BCL10 BEAN1 BLK BLVRA BMP6 BMPR2 BPGM BPY2 BRCA1 BRCA2 BRDT BSCL2 BTNL2 BVES C14orf39 C19orf12 C1QBP C1QTNF5 C2CD6 C3 C9 C9orf72 CACNA1A CACNA1C CACNA1I CACNB4 CADM3 CAPN3 CARD9 CASK CASQ2 CASR CATIP CATSPER1 CATSPER2 CAV1 CAV3 CBFB CC2D2A CCDC34 CCDC39 CCDC62 CCDC88C CCND1 CCNF CD164 CDC20 CDH1 CDH2 CDH23 CDY1 CDY2A CEBPE CEL CEP78 CFAP251 CFAP43 CFAP44 CFAP58 CFH CFHR1 CFHR3 CFI CHCHD10 CHCHD2 CHMP2B CHRNA1 CHRNA2 CIB1 CLCN1 CLCN2 CLEC3B CLN6 CNBP CNNM2 COCH COL2A1 COL4A1 COL4A3 COL6A3 COQ2 COQ8B CORIN CP CPOX CPT1C CPT2 CRYAB CRYBA2 CSF1R CSRP3 CT55 CTNNA1 CTNS CTSF CYLD CYP11B1 CYP27A1 CYP7B1 DAB1 DAZ1 DAZ2 DAZ3 DCTN1 DDX3Y DDX41 DES DGKE DGUOK DHTKD1 DIABLO DIAPH2 DIAPH3 DLST DMD DNA2 DNAH1 DNAH17 DNAH8 DNAJB11 DNAJB2 DNAJB4 DNAJB6 DNAJC3 DNAJC30 DNAJC5 DNALI1 DNHD1 DNM1L DNMT1 DNMT3B DPM3 DPY19L2 DRAM2 DRC1 DRD5 DSC2 DSG2 DSP DTNA DYRK1B DYSF EEF2 EIF2AK2 EIF2AK4 EIF2B3 EIF4G1 ELMOD3 ELOVL4 ELOVL5 ENG ENO3 ENPP1 EPAS1 EPCAM EPHA10 ERBB4 ERCC6 ERCC6L2 ESR2 F2 F5 F8 FANCM FARS2 FAT2 FBLN5 FBN1 FBXO43 FDPS FGF14 FHL1 FHOD3 FIG4 FKBP6 FKTN FLNC FMR1 FN1 FOXC1 FOXE3 FSHB FSIP2 FTH1 FTL FZD4 G6PD GAA GABRA3 GALC GANAB GARS1 GATA2 GATAD1 GBA1 GBE1 GBF1 GCGR GCK GCM2 GCNA GDAP2 GDF9 GFAP GGCX GGN GIPC1 GJA5 GJC2 GK GLUD2 GNA11 GNAI2 GNAL GNAS GNB3 GNB4 GNE GPD2 GPIHBP1 GRN GSN GYG1 H6PD HAMP HAVCR2 HCN4 HFM1 HGD HGSNAT HINT1 HJV HK1 HKDC1 HLA-DQB1 HLA-DRB1 HMCN1 HMGA1 HNF1A HNF1B HNF4A HNRNPA1 HNRNPDL HPRT1 HRG HSFY1 HSPB1 HSPB3 HSPB8 HTRA1 ICOS IDS IFIH1 IFT140 IFT74 IGF2BP2 IKZF1 IL36RN IL6 IMPG1 IMPG2 INF2 INS INSR IQCN IRS1 IRS2 ITM2B ITPR1 ITPR3 JAG2 JAK2 JPH2 JPH3 JUP KCNA5 KCNC3 KCND3 KCNE1 KCNE2 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNK3 KCNQ1 KCNU1 KCTD17 KDM5D KIF1B KIF5A KLHL24 KLHL3 KLHL7 KLKB1 KNG1 KPNA7 KRAS KRT18 LAMA2 LAMA4 LBR LCAT LDB3 LGI1 LHB LIG3 LIG4 LIPC LIPE LITAF LMF1 LMNA LMNB1 LMX1B LOX LRIF1 LRP12 LRP5 LRP6 LRRK2 LYST LZTR1 M1AP MAFA MAFB MAGT1 MAK MAP1B MAPK8IP1 MAPKAPK3 MAPKBP1 MAPT MARCHF6 MARS1 MARS2 MATR3 MB MBD4 MCCC1 MCM6 MED25 MEF2A MEFV MEI1 MEIOB MEN1 MFAP5 MFRP MFSD8 MGME1 MICAL1 MLH1 MME MN1 MOCOS MOG MORC2 MOS MOV10L1 MPEG1 MPO MPZ MSH2 MSH3 MSH4 MSH5 MSH6 MT-TT MTNR1B MTOR MUC1 MYBPC3 MYH6 MYH7 MYL2 MYL4 MYORG MYOT MYPN NAF1 NAGA NAGLU NEFH NEFL NEK1 NEUROD1 NEXN NF1 NF2 NFKB1 NLRP2 NLRP3 NLRP5 NLRP7 NOL3 NOS3 NOTCH2NLC NOTCH3 NPC1 NPHP1 NPPA NPTX1 NR0B1 NR2E3 NR3C1 NR4A2 NRCAM NRIP1 NRL NT5C2 NTHL1 NUTM2B-AS1 OBSCN OPTN OSMR OTC OXGR1 P2RX2 PABPN1 PARK7 PARN PATL2 PAX2 PAX4 PDCD1 PDE11A PDE1C PDE8B PDGFB PDGFRB PDHA2 PDK3 PDX1 PDYN PHKA1 PIGA PIGT PIK3CA PIK3R5 PKD2 PKHD1 PKP2 PLA2G6 PLAU PLCZ1 PLD3 PLEKHG5 PLG PLIN1 PLIN4 PLN PMP2 PMP22 PMVK PNKP PNLDC1 PNPLA2 POF1B POGLUT1 POLD1 POLE POLG POLG2 POLRMT POT1 PPARG PPOX PPP1R3A PPP2R3C PRDM16 PRDX3 PRKAG2 PRKAR1A PRKCH PRKCSH PRKG1 PRKN PRKRA PRLR PRNP PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRRT2 PRY PRY2 PSAP PSEN1 PSEN2 PTEN PTF1A PTPN1 PUM1 PYGM QRICH2 RAB39B RAF1 RAPGEF2 RAX2 RBM12 RBM20 RBMY1A1 RBP3 RCBTB1 REC114 REEP1 REEP6 RELN RETN RFC1 RIGI RILPL1 RIPOR2 RNASEH1 RNASEL RNF170 RNF216 RP1 RP2 RPA1 RPGR RPL10L RPS14 RPS19 RPS4Y2 RRAGD RRM2B RTEL1 RYR2 SAMD12 SAMD9L SASH3 SCARB2 SCN10A SCN1A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEC61A1 SEC63 SELENBP1 SEMA3A SEPTIN12 SERPINA1 SERPINA6 SERPING1 SERPINH1 SETX SFRP4 SFTPA1 SGCD SGO1 SH3BP2 SH3TC2 SHANK3 SHOC1 SLC12A5 SLC17A9 SLC19A2 SLC19A3 SLC20A2 SLC22A12 SLC25A13 SLC25A4 SLC26A1 SLC26A8 SLC2A10 SLC2A2 SLC30A8 SLC34A2 SLC37A4 SLC39A14 SLC44A4 SLC4A1 SLC4A11 SLC4A2 SLC4A3 SLC4A4 SLC7A6OS SLCO2A1 SMAD2 SMAD4 SMARCB1 SMARCE1 SMCHD1 SMN1 SMN2 SMPD1 SMPX SNCA SNCAIP SNORD118 SNTA1 SOCS1 SOD1 SOHLH1 SOST SPAG17 SPG11 SPG7 SPINK2 SPRY2 SPTLC1 SPTLC2 SSBP1 SSX1 STAG3 STARD7 STAT1 STIM1 STK11 STOX1 STRC STT3A STUB1 SUFU SUN5 SYCE1 SYCP2 SYCP3 SYNE1 SYNJ1 TAF1 TAF4B TARDBP TBC1D24 TBC1D8B TBK1 TBP TBX18 TBX3 TCAP TCF4 TCF7L2 TDRD9 TECRL TERB1 TERB2 TERC TERT TEX11 TEX14 TEX15 TFG TGFBI TGFBR1 TGM6 THAP1 THBD THOC1 THSD1 THSD4 TIA1 TIE1 TIMP3 TINF2 TK2 TLCD3B TLR7 TLR8 TMEM126B TMEM240 TMEM43 TNC TNFAIP3 TNFRSF13C TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TNRC6A TOP3A TOR1A TOR1AIP1 TP53 TP63 TPM1 TPP1 TRDN TREX1 TRIM32 TRMT5 TRPC3 TRPC6 TRPM3 TRPM7 TRPV4 TSC1 TSC2 TSGA10 TTBK2 TTC19 TTC21A TTLL5 TTN TTR TUBA4A TUBB4A TULP3 TWNK TYROBP UBA1 UBQLN2 UCHL1 UNC119 UNC13D UQCRC1 USP26 USP48 USP9Y VAMP1 VAPB VCL VCP VCY VEZF1 VHL VPS11 VPS13D VPS16 VPS35 VSX1 WASHC5 WDR19 WEE2 WFS1 WNT4 XK XKRY XPR1 XRCC1 XRCC2 YARS1 YEATS2 ZEB1 ZFP36L2 ZMYND15 ZNF408 ZNF687 ZP1 ZP3 ZPBP ZSWIM7 HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT DGUOK DKK1 ERCC6 ERCC8 GJB6 HP_ADVANCED_ERUPTION_OF_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_ERUPTION_OF_TEETH ADNP AMER1 BCL11B C2CD3 CEP120 CILK1 CREBBP DHCR7 DPH1 DSP EHMT1 EP300 EVC EVC2 FAM20C FGFR2 FLNA GLI3 GTF2H5 INSR INTU JUP KDF1 KDM6A KMT2C KMT2D KRT16 KRT17 KRT6A KRT6B LMNA MID1 MKS1 NEK1 NFIX NSD1 POLR3A POLR3B PTH1R RPS6KA3 SPECC1L VARS1 ZMPSTE24 ZSWIM6 HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES B3GALT6 CANT1 NANS PDE4D PTH1R SETD2 SLC10A7 SLC35B2 SLC35D1 XYLT1 HP_AGAMMAGLOBULINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGAMMAGLOBULINEMIA BLNK BTK CARD11 CD79A CD79B CDCA7 CIITA FNIP1 HELLS IGHM IGLL1 IKBKB IL2RG LRRC8A PIK3R1 RFX5 RFXANK RFXAP SH3KBP1 SLC39A7 SPI1 TCF3 TIMM8A TTC7A HP_AGENESIS_OF_CENTRAL_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CENTRAL_INCISOR AXIN2 EDA EDARADD EIF4A3 FGFR1 IRF6 LRP6 MSX1 NEK1 PAX9 SUMO1 TGFA WNT10A WNT10B HP_AGENESIS_OF_CEREBELLAR_VERMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CEREBELLAR_VERMIS ALX4 B4GAT1 CEP290 FKRP INPP5E KIF14 KPNA3 MEF2C MVK PDE6D PTF1A RNU4ATAC TCTN3 TFAP2A TMEM216 TMEM237 ZEB2 HP_AGENESIS_OF_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CORPUS_CALLOSUM AARS1 ABAT ACTB ACTG1 ADAT3 AHI1 ALX1 ALX3 ALX4 AMER1 AMT ANKLE2 AP1G1 ARID1A ARID1B ARID2 ARMC9 ARNT2 ARX ASPM ASXL1 ATRX B3GALNT2 B3GLCT B4GAT1 BCL11B BMP4 BUB1B C12orf57 C2CD3 CAMSAP1 CARS1 CASZ1 CC2D2A CDC40 CDC42BPB CDH2 CDK13 CDK5 CDK5RAP2 CDK6 CDK8 CDON CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP41 CEP63 CFC1 CILK1 CIT CLCN3 CNOT1 COL4A1 COPB2 COX7B CPLANE1 CPLX1 CPT2 CREBBP CRPPA CSF1R CTBP1 CTU2 CWF19L1 CYP11A1 DACT1 DAG1 DCC DCHS1 DCX DDX3X DDX59 DHCR24 DHCR7 DHX16 DIS3L2 DISC1 DISP1 DLL1 DNAL4 DNM1 DPF2 DPH1 DPH2 DPYD DPYSL5 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 EARS2 EFNB1 EHMT1 EML1 EMX2 EOMES EP300 EPG5 ERCC2 ERCC3 ERCC5 ERCC6 FANCD2 FANCI FAT4 FCSK FGF8 FGFR1 FGFR2 FGFRL1 FH FIG4 FKRP FKTN FLI1 FLVCR2 FOXA2 FOXG1 FOXH1 FRA10AC1 FRMD4A GABRD GAS1 GDF1 GET4 GGT1 GLDC GLI2 GLI3 GMPPB GPC3 GPC4 GPSM2 GPX4 GTF2E2 GTF2H5 H3-3A HCCS HECTD4 HESX1 HIBCH HNRNPK HNRNPR HNRNPU HS2ST1 HSPA9 HSPG2 HYLS1 IFT80 IGBP1 INPP5E KANSL1 KAT5 KAT6B KATNB1 KCNAB2 KDM4B KDM5B KIAA0753 KIDINS220 KIF14 KIF15 KIF26A KIF7 KNL1 KRAS L1CAM LARGE1 LETM1 LHX3 LHX4 LMNB2 LONP1 LRP2 LRPPRC LRRC32 LUZP1 MAN2C1 MBTPS2 MCM7 MCPH1 MDH1 MED12 MED12L MED25 METTL5 MFSD2A MID1 MKS1 MLH1 MMP23B MPDZ MPLKIP MRPS16 MRPS25 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR NARS2 NCAPD3 NDE1 NDUFAF5 NDUFB11 NELFA NFIA NFIB NFIX NKX2-1 NODAL NPHP1 NSD1 NSD2 NTN1 NUP37 OFD1 OSTM1 OTUD5 OTX2 PDHA1 PDHB PDHX PDPN PDYN PEX2 PGAP1 PHC1 PHGDH PIEZO2 PIGG PIGN PLCH1 PLK4 PLXNA1 PMS2 POLR2A POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 PPIL1 PPP1R12A PPP2R1A PPP2R3C PRDM16 PRKCZ PROKR2 PROP1 PRRX1 PTCH1 PTDSS1 PUF60 PYCR1 PYCR2 RAB3GAP1 RAB3GAP2 RAC3 RAD51 RECQL4 RELN RERE RNF113A RNU4ATAC ROBO1 RPGRIP1L RSPO2 RTTN RXYLT1 SALL1 SARS1 SASS6 SCYL2 SEC31A SF3B2 SHANK3 SHH SIX3 SIX6 SKI SLC12A2 SLC12A6 SLC25A1 SLC25A19 SLC30A9 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMO SOX11 SOX2 SOX3 SOX4 SPEN SPG11 STAG2 STIL SUFU SUPT16H SUZ12 TAF13 TARS1 TBC1D23 TCF12 TCTN3 TDGF1 TGIF1 THUMPD1 TMEM237 TMEM260 TNR TP73 TRAPPC10 TRAPPC12 TRAPPC14 TTC5 TUBA1A TUBA8 TUBB TUBB2B TUBB3 UBE4B VAC14 VANGL2 VAX1 WARS1 WDR35 WDR4 WDR62 WNT3 YARS1 YY1 ZBTB18 ZEB2 ZIC1 ZIC2 ZNF148 ZNF335 ZNF462 ZNF699 ZSWIM6 HP_AGENESIS_OF_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_INCISOR ARHGAP29 ARHGEF38 AXIN2 B3GLCT BCOR BLM BMP4 CDC42BPB CDH1 CDH11 COBLL1 DLG1 DLX3 DLX4 EDA EDARADD EIF4A3 ERCC3 FGFR1 GLI2 IRF6 LRP6 MSX1 NAA10 NECTIN1 NEK1 PAX9 PDGFRA RIC1 RIPK4 SUMO1 TGFA TP63 WNT10A WNT10B HP_AGENESIS_OF_LATERAL_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_LATERAL_INCISOR ARHGAP29 ARHGEF38 AXIN2 B3GLCT BCOR BLM BMP4 CDH1 COBLL1 DLG1 DLX4 EDA EDARADD ERCC3 FGFR1 IRF6 LRP6 MSX1 NAA10 NECTIN1 PAX9 PDGFRA RIC1 SUMO1 TGFA TP63 WNT10A WNT10B HP_AGENESIS_OF_MAXILLARY_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_MAXILLARY_INCISOR AXIN2 B3GLCT BCOR BLM EDA EDARADD ERCC3 FGFR1 IRF6 LRP6 MSX1 NAA10 PAX9 RIPK4 SUMO1 TGFA WNT10A WNT10B HP_AGENESIS_OF_PERMANENT_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_PERMANENT_TEETH C1R C1S CREBBP DVL3 EP300 GNB2 KCTD1 LRP6 MESD MSX1 OFD1 RAB23 RAD51 RECQL4 RIPK4 SATB2 UBR1 WDR35 WNT10A HP_AGE_OF_DEATH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGE_OF_DEATH AARS2 ABAT ABCA12 ABCA3 ABCB11 ACAD9 ACADVL ACOX1 ACTA1 ACTB ACTG2 ACTL6B ACTN2 ADCY5 ADCY6 AFF3 AIMP1 AIMP2 ALB ALG1 ALG11 ALG14 ALG8 ALPL AMT ANTXR2 AP1S1 APP ARHGEF9 ARX ASCL1 ASXL3 ATAD3A ATG7 ATP1A2 ATP5F1A ATP5MK ATP6AP1 ATP7A ATPAF2 ATRX BAZ1B BCL7B BCS1L BIN1 BMPR1B BOLA3 BRAT1 BUD23 C18orf32 C2orf69 CAD CALCRL CAMSAP1 CCDC22 CD3G CD96 CDC40 CDK5 CDON CENPF CEP120 CEP55 CLCF1 CLCN3 CLIP2 CLN8 CNOT1 CNTN1 CNTNAP1 COASY COG6 COG7 COL11A1 COL2A1 COX10 COX11 COX16 COX5A COX8A CPT2 CRIPT CRLF1 CRLS1 CRPPA CRTAP CRYAB CST3 CTSD DCX DHCR7 DLD DLK1 DLL3 DNAJC30 DNM1L DNM2 DOLK DONSON DPH1 DPH5 DPM2 DPYSL5 DSP DTYMK DYNLT2B ECHS1 EDNRB EFL1 EIF4H ELAC2 ELN ELOVL4 EMG1 ENG EPCAM EPG5 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ESCO2 ETFA ETFB ETFDH ETHE1 EXOC8 EXOSC8 EXTL3 FADD FAM111A FAM20C FAN1 FANCB FARS2 FCGR3B FCHO1 FGA FGB FGFR3 FGG FHL1 FKBP6 FKRP FLI1 FLNA FLNB FOXF1 FRAS1 FREM2 FTO FXR1 GAD1 GATC GBA1 GDF5 GET3 GFAP GFM2 GLB1 GLDC GLE1 GLI3 GLUL GNPTAB GPC3 GPC4 GPHN GPR161 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 HADHB HBB HDAC6 HESX1 HEXB HMGCL HOXA13 HSPG2 HTRA2 HYLS1 IDUA IKBKB IL6ST INTU ITGA6 ITGB4 ITPA JAK2 JAM3 JPH2 KARS1 KIF20A KLHL40 KRAS KRT5 LAMA3 LAMB2 LAMB3 LAMC2 LAT LBR LGI4 LHX4 LIFR LIMK1 LIPA LIPT1 LIPT2 LMNA LMOD1 LMOD2 LMOD3 LRPPRC LTBP4 LTC4S LYRM7 MADD MALT1 MBTPS2 MDFIC MEG3 MESP2 METTL27 MFF MFSD2A MGP MLH1 MLH3 MLXIPL MOCS2 MPDU1 MPI MPL MRM2 MRPL3 MRPL44 MRPS16 MRPS22 MRPS34 MSH2 MSH6 MT-TN MT-TS1 MTMR14 MTX2 MUSK MYF6 MYH11 MYH6 MYH7 MYL1 MYL2 MYLK MYO5B NADK2 NADSYN1 NAXD NAXE NCF1 NDUFA2 NDUFAF3 NDUFAF4 NDUFB10 NDUFB11 NDUFB8 NDUFS4 NDUFS6 NDUFS7 NDUFV1 NDUFV2 NEB NEK8 NFIX NFS1 NFU1 NHLRC2 NLRP7 NPC2 NPHP3 NR1H4 NRAS NSD2 NSDHL NSF NUP214 NUP88 NXN OAS1 OCRL OGDH ORAI1 ORC1 OSTM1 PAICS PAM16 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHGDH PHOX2B PIGA PIGB PIGY PIK3CA PIP5K1C PITX1 PKHD1 PLCB3 PLEC PLIN1 PLVAP PLXND1 PMM2 PMS1 PMS2 POLG POLR3A POLR3B POMT2 POR POT1 PPCS PPFIBP1 PPIL1 PQBP1 PROKR2 PRPS1 PSAP PSAT1 PSMB8 PTF1A PTH1R PTPRC QRSL1 RAB27A RAD51C RARB RARS2 RBM10 RBM8A REC114 RET REV3L RFC2 RHAG RHCE RHD RINT1 RMND1 RNASEH2A RNASEH2C RNU4ATAC ROBO1 ROR2 RPL3L RPS6KA3 RTL1 RYR1 SATB1 SCN1B SCN4A SCO2 SCYL2 SDHD SEC31A SERPINC1 SERPINE1 SERPINH1 SFTPB SIK1 SLC17A5 SLC25A19 SLC25A22 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SLC33A1 SLC35D1 SLC52A3 SLC9A6 SMARCD2 SMN1 SMO SMOC1 SMPD4 SNAP29 SNRPB SOST STAT2 STRA6 STT3B STX1A STX3 SUCLG1 SUOX SURF1 TARS2 TBL2 TBXT TFAM TGFBR2 THPO THSD1 TIMMDC1 TK2 TMEM260 TMEM270 TMEM70 TNFRSF11A TNNI3 TOR1A TPI1 TPP2 TRIP11 TRMT10C TRMU TSEN2 TSEN54 TSFM TSPYL1 TTC26 TTC7A TUFM TYMP UBR1 VIPAS39 VPS33A VPS33B VPS35L VPS37D VPS4A VPS50 WASHC5 WDR11 WRN WT1 ZIC3 ZMPSTE24 ZNFX1 HP_AGGRESSIVE_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGGRESSIVE_BEHAVIOR ABCA2 ADAT3 ADNP ADSL AFF2 AGO1 AGO2 ALDH4A1 ALDH5A1 ALG14 AMT ANK3 AP1G1 AP1S2 APC2 ARID1A ARID1B ARID2 ARPC4 ATP13A2 ATP1A2 ATP1A3 ATP7B ATP9A ATXN10 BCAP31 BCOR BCORL1 BPTF BRF1 C12orf4 CACNA1A CACNB4 CAMK2B CAMTA1 CDC42BPB CEP152 CEP290 CEP85L CHD2 CHD5 CHD8 CHKA CHMP2B CILK1 CLCN2 CLCN4 CLN3 CLN5 CNTNAP2 CREBBP CTNNB1 CUL4B CUX2 CYP27A1 DCDC2 DDX3X DEAF1 DGCR2 DGCR6 DGCR8 DHCR7 DNM1 DNMT3A DPAGT1 DPF2 DPYD DPYSL5 DYNC1I2 DYRK1A EBP ECM1 EEF1A2 EFHC1 EHMT1 EIF2S3 ELP2 ENTPD1 EP300 ESS2 FBXL3 FBXW11 FGF14 FIG4 FMO3 FMR1 FOXG1 FOXP1 FRMPD4 FRRS1L FTSJ1 GABRA1 GABRB3 GABRD GAMT GDAP2 GLDC GNB1 GNS GRIA3 GRIK2 GRIN2A GRN HDAC4 HDC HECTD4 HEPHL1 HERC2 HIVEP2 HNRNPH2 HSD17B10 HTRA1 HTT IFNG IMPA1 INPP5E IQSEC1 IQSEC2 JARID2 JRK KCNQ3 KCNT1 KDM3B KDM4B KDM5B KDM5C KIF11 KMT2A KMT2E KMT5B KNL1 LEPR LINGO1 LINS1 LMAN2L MAB21L1 MAN1B1 MANBA MAOA MAPK1 MAPK10 MAPT MBD5 MECP2 MED12 MED12L MED13L MED25 METTL5 MGAT2 MYT1L NAA10 NAGLU NAGS NAXD NBEA NDP NDST1 NEXMIF NFASC NFIB NKAP NONO NRCAM NSD1 NSD2 NSDHL OCRL ODC1 PACS1 PAH PAK3 PCDH19 PDE2A PGM2L1 PHIP PIDD1 PIGH PIGY PLA2G6 POGZ POU4F1 PPP2R5D PRKAR1B PRNP PRODH PRRT2 PSEN1 PSMB1 PSMD12 PTCHD1 PUS3 PUS7 PYCR2 RBBP8 RFX7 RLIM RORB RUSC2 SARS1 SASS6 SATB2 SCN1A SETBP1 SETD1A SETD2 SH2B1 SHANK3 SHMT2 SIN3A SLC1A3 SLC25A13 SLC2A1 SLC2A3 SLC52A2 SLC6A17 SLC6A8 SLITRK1 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX5 SPAST SPEN SPR SPTBN1 SQSTM1 SRCAP STEEP1 STT3A SUCLG1 SUPT16H SYN1 TBP TBX1 TCF20 TCF4 TDO2 TFE3 TIMM50 TMEM106B TMEM147 TMEM222 TMEM231 TMEM240 TMEM67 TRAPPC10 TREM2 TRIO TRIP12 TSC1 TSC2 TTC19 TTC5 TTI2 TYROBP UBE2A UBE3C UBE4A UBTF UQCC2 UROC1 USP7 USP9X VCP VPS13A VPS16 WAC WARS2 WDR45 WDR62 ZBTB20 ZMIZ1 ZMYND11 HP_AGITATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGITATION ABCA7 ABCC8 ACAT1 ADA2 ADCY5 AFF2 ALAD ANG ANXA11 APP ATP6V0A1 ATXN2 BRAT1 CACNA1A CCNF CDKL5 CFAP410 CHCHD10 CHMP2B COX10 CYP27A1 DAO DCDC2 DCTN1 DCX DEAF1 DNAJC13 DNAJC6 ECE1 EIF2S3 EIF4G1 EPHA4 ERBB4 FGF12 FIG4 FUS GABBR2 GBA1 GIGYF2 GLE1 GLS GLT8D1 GNAS GNS GRN H4C5 HNF1A HNF4A HNRNPA1 HSD17B10 HTRA2 HTT IGF1R KCNJ11 KIF11 LRRK2 LSS MATR3 MECP2 MED13L NAGS NDST1 NEFH NEK1 NTNG1 OPTN PAK3 PARK7 PDE11A PFN1 PINK1 PODXL PON1 PON2 PON3 PPARGC1A PRKAR1A PRKN PRPH PSEN1 PSEN2 PTS SATB1 SLC2A3 SMC1A SNCA SOD1 SORL1 SPAST SPTBN1 SQSTM1 SUOX SYNJ1 TAF15 TARDBP TBK1 TMEM67 TOMM40 TRANK1 TREM2 TSHR UBQLN2 UCHL1 UCP2 UNC13A VAPB VCP VPS13C VPS35 WAC HP_AGNOSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGNOSIA ABCA7 ABCD1 APOE APP ATP6AP2 BMPR1A CEP85L CHMP2B EPCAM EPRS1 FAN1 GRN KRAS MAPT MLH1 MLH3 MSH2 MSH6 PIK3CA PMS1 PMS2 PSEN1 PSEN2 RPS20 SEMA4A SORL1 TGFBR2 TMEM106B TOMM40 TREM2 TYROBP HP_AGYRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGYRIA CDK5 CEP85L CRPPA DAG1 DCX FKRP FKTN KIF2A LARGE1 PAFAH1B1 POMK POMT1 POMT2 TMTC3 TUBA1A TUBB2B TUBB3 TUBG1 HP_AIRWAY_HYPERRESPONSIVENESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_HYPERRESPONSIVENESS ALOX5 CCL11 HLA-G HNMT IL13 MUC7 PLA2G7 SCGB3A2 TNF HP_AIRWAY_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_OBSTRUCTION ACTC1 AHDC1 ALMS1 APC ARVCF BLM BTNL2 CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP74 CFTR CITED2 CLCA4 COL11A1 COMT CTLA4 CYBA CYBB CYBC1 DCTN4 DDRGK1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNASE1L3 DRC1 EDNRA ENG F12 FGFR2 FGFR3 FOXJ1 GAS2L2 GAS8 GATA4 GATA6 GCLC GLA GNE GP1BB GSTM3 GUSB HFE HIRA HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HYDIN IDS JMJD1C KCNJ6 KCNN4 KIF22 LMNA LRRC56 MCIDAS MGP MIF MMP1 MPEG1 MYH6 NCF1 NCF2 NCF4 NEK10 NFIX NFKB1 NKX2-5 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 POGLUT1 POR PRTN3 PTPN22 RAC2 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SCNN1A SCNN1B SCNN1G SEC24C SERPINA1 SH3BP2 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SOX9 SPAG1 SPEF2 STK36 STX1A TBX1 TBX20 TGFB1 THSD4 TLL1 TTC12 UFD1 VPS33A WAS WIPF1 XPNPEP2 ZMPSTE24 ZMYND10 ZSWIM6 HP_AKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AKINESIA ATP13A2 CHRNA1 CHRND CHRNG CNTN1 CP DCTN1 DNAJC13 DNAJC6 DOK7 DPAGT1 EIF4G1 ERBB3 FGF14 FLVCR2 FXR1 GBA1 GIGYF2 KARS1 KIF21A LRRK2 MAPT MUSK MYOD1 NDUFA13 NEB NR4A2 NUP88 PANK2 PODXL RAPSN SLC18A3 SNCA SYNJ1 TMEM240 TOR1A TUBA1A VPS13C VPS35 WDR45 HP_ALACRIMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALACRIMA AAAS CLDN10 DST ELP1 FGF10 FGFR2 FGFR3 GMPPA MADD NGLY1 PAX1 PIGQ SETBP1 SLC12A2 SOX10 TRAPPC11 HP_ALBINISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBINISM AP3B1 AP3D1 BLOC1S3 BLOC1S5 CACNA1F DTNBP1 EDNRB EPG5 HPS1 HPS3 HPS4 HPS5 HPS6 LRMDA MC1R MITF OCA2 SLC45A2 TYR TYRP1 WDR45 HP_ALBUMINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBUMINURIA ABCC8 ALG5 ALG9 BICC1 CUBN DNAJB11 GALT GANAB GCK IER3IP1 IFT140 INS KCNJ11 MIA3 PDX1 PEX1 PKD1 PKD2 SLC37A4 STAT3 HP_ALCOHOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALCOHOLISM ADH1B ADH1C BCOR FIP1L1 GABRA2 HTR2A HTT IRF2BP2 LEMD3 NABP1 NPM1 NUMA1 PML PRKAR1A RARA SGCE SLC2A3 STAT3 STAT5B TAS2R16 TBK1 TBL1XR1 TICAM1 TLR3 TRAF3 UNC93B1 ZBTB16 HP_ALEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALEXIA CHMP2B GRN MAPT PSEN1 TMEM106B TREM2 VCP HP_ALKALOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALKALOSIS AIP ASL ASS1 BSND CA5A CACNA1D CLCN2 CLCNKA CLCNKB CPS1 CYP17A1 HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 KCNJ5 NARS2 NR3C1 OTC SARS2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC25A15 SLC26A3 USP8 HP_ALLERGIC_RHINITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGIC_RHINITIS CARMIL2 CDSN COX4I2 CPN1 IGHG2 IGKC IL21R IL4R KRT74 MS4A2 PGM3 PLA2G7 PLCG2 SIK3 SLC27A4 SPINK5 HP_ALLERGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGY ABCC9 ADA ARL6 BBS1 CAMK2B CARD11 CARMIL2 CCDC28B CDSN CHD1 COX4I2 CPN1 CSTA CTLA4 DOCK8 DPP9 DSG1 FOCAD FOXP1 FOXP3 IGHG2 IGKC IL21R IL4R IL6ST IPO8 JAK1 KRT74 MS4A2 MTOR PGM3 PLA2G7 PLCG2 PSTPIP1 RBM8A SIK3 SLC27A4 SOX6 SPINK5 SPTBN1 TGM5 HP_ALOBAR_HOLOPROSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOBAR_HOLOPROSENCEPHALY FGFR1 PLCH1 PTCH1 SIX3 STAG2 ZIC2 HP_ALOPECIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA AARS1 ABCA12 ABCD1 ABHD5 ACVR1 ADA AEBP1 AHSG AIRE ALMS1 ALOX12B ALOXE3 ALX4 ANAPC1 ANTXR1 AP1B1 APCDD1 ARHGAP31 ARMC5 ATP7A ATR BANF1 BANK1 BAP1 BCS1L BLK BLM BMP2 BTD BTK BTNL2 C4A C4B CARS1 CASR CD28 CDSN CERS3 CHD7 CLDN1 COL17A1 COL18A1 COL3A1 COL7A1 CR2 CSTB CTC1 CTLA4 CWC27 CYP11B1 DCAF17 DCLRE1C DDB2 DKC1 DLL4 DMXL2 DNASE1 DOCK6 DOLK DSG4 DSP DVL1 DVL3 EBP ECM1 EDAR EDARADD EDNRA EOGT EPS8L3 ERCC2 ERCC3 ERCC4 ERCC5 ETS1 EXOSC2 FAM111B FCGR2B FCGR3B FGFR1 FLI1 FLNA FOXN1 FOXP3 FTL FZD2 GATA1 GJA1 GJB2 GJB3 GJB4 GJB6 GNA11 GNAS GTF2E2 GTF2H5 H6PD HEPHL1 HFE HLA-B HLA-DQA1 HLA-DQB1 HLA-DRA HLA-DRB1 HLCS HR HRAS HRURF HTRA1 IGHG1 IKBKG IL10 IL2RA IL2RG IL7R IPO8 IRAK1 IRF5 ITGAM ITGB4 ITGB6 JAZF1 JUP KANSL1 KCTD1 KDF1 KDM5C KDSR KIAA0319L KLHL24 KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LIG4 LIPH LMNA LORICRIN LPAR6 LSS MAP2K2 MBTPS2 MCCC2 MECP2 MGP MMP1 MOGS MPLKIP NECTIN1 NECTIN4 NFKB1 NFKB2 NHP2 NIPAL4 NOP10 NOTCH1 NPM1 NRAS NSDHL NXN ODC1 OFD1 P4HA2 PADI3 PARN PDCD1 PERP PEX7 PI4KA PIK3R1 PKP1 PLEC PNPLA1 PNPLA6 POLR3A PORCN PRKACA PRKCD PTPN22 PXK RAG1 RAG2 RBM28 RBPJ RECQL4 RHOA RIN2 RIPK4 RMRP RNF113A RNU4ATAC ROR2 RPL21 RTEL1 SASH1 SAT1 SDR9C7 SLC27A4 SLC29A3 SLC30A2 SLC39A4 SLITRK1 SMARCA2 SNRPE SOX18 SPP1 SREBF1 STAT4 STUB1 SULT2B1 TARS1 TERC TERT TGM1 TGM3 TINF2 TLR7 TNFAIP3 TNFRSF1B TNFSF4 TNIP1 TP63 TRAC TREX1 TRPV3 TTC7A TYMS UBE2L3 UBR1 UQCRFS1 UROD UROS USB1 VDR WNT10A WNT5A WRAP53 WRN XPA XPC ZMPSTE24 ZNF341 ZPR1 HP_ALOPECIA_OF_SCALP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_OF_SCALP AARS1 CARS1 CDSN CLDN1 COL17A1 COL18A1 COL3A1 DCLRE1C EBP ECM1 ERCC2 ERCC3 GATA1 GJB2 GJB6 GTF2E2 GTF2H5 HTRA1 ITGB4 KDF1 KLHL24 KRT14 KRT74 LAMA3 LAMB3 LAMC2 MAP2K2 MBTPS2 MPLKIP PI4KA PKP1 PLEC POLR3A RHOA RNF113A SASH1 SLC27A4 SLC29A3 SLC39A4 TARS1 TP63 TTC7A UROD UROS WRN HP_ALOPECIA_TOTALIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_TOTALIS ALX4 ANAPC1 DSP FOXN1 GJB6 JUP LMNA LSS MBTPS2 NFKB2 RECQL4 RIPK4 UQCRFS1 ZMPSTE24 HP_ALOPECIA_UNIVERSALIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_UNIVERSALIS AHSG AIRE DSP HR IL2RA LMNA PERP PKP1 SNRPE TRPV3 VDR HP_ALTERNATING_ESOTROPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALTERNATING_ESOTROPIA APC CDC42BPB CLCN6 COG8 DPP6 LMBRD2 LMNB1 MPDZ PPP2R5D SLC38A8 HP_ALVEOLAR_CELL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_CELL_CARCINOMA BRAF CASP8 CYP2A6 EGFR ERBB2 ERCC6 FASLG IRF1 KRAS MAP3K8 MUC5B PIK3CA PPP2R1B PRKN SFTPA2 SFTPC SLC22A18 TERT HP_ALVEOLAR_RHABDOMYOSARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RHABDOMYOSARCOMA DICER1 FOXO1 KEAP1 PAX3 PAX7 HP_ALVEOLAR_RIDGE_OVERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RIDGE_OVERGROWTH BRF1 CD96 DHCR24 DPH5 FTO NTRK1 OFD1 PIGA RBM10 SH3BP2 SNRPN TBX15 WDR4 HP_ALZHEIMER_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALZHEIMER_DISEASE ABCA7 APOE APP CACNA1G GATA1 MPO NOS3 PLAU PSEN1 PSEN2 HP_AMAUROSIS_FUGAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMAUROSIS_FUGAX ADA2 ADRA2B ATP1A2 BMPR1A CACNA1A CALR CNTN2 CTNND2 EPCAM FAN1 HLA-B HLA-DRB1 IL12B JAK2 KRAS MARCHF6 MLH1 MLH3 MLX MPL MSH2 MSH6 P4HA2 PIK3CA PMS1 PMS2 PRRT2 PTPN22 RPS20 SAMD12 SCN1A SEMA4A SH2B3 TET2 TGFBR2 TP53 YEATS2 HP_AMBIGUOUS_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA AKR1C2 AKR1C4 AR ARX ATP6V1B2 ATRX B9D1 B9D2 BDNF BMP15 BNC1 BUB1 BUB1B BUB3 CC2D2A CDON CEP120 CEP290 CEP41 CEP57 CHD4 CILK1 CKAP2L COX7B CSPP1 CTU2 CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 DHCR24 DHCR7 DHX37 DISP1 DLL1 DMRT3 DYNC2H1 DYNC2I1 DYNC2I2 FDXR FGF8 FGFR1 FOXH1 FRAS1 FREM2 FSHR FUZ FZD2 GAS1 GATA4 GLI2 GLI3 GRIP1 HCCS HOXD13 HSD17B3 HSD3B2 IFT80 IFT81 IGF2 IRF6 MAP3K1 MINPP1 MKS1 MRPS22 MSH4 MYRF NDUFB11 NEK1 NODAL NR0B1 NR2F2 NR3C1 NR5A1 NUP107 PAX6 PBX1 POLR3H POR PSMC3IP PTCH1 RIPK4 RPGRIP1 RPGRIP1L RSPO1 SC5D SHH SIX3 SOX3 SOX9 SPIDR SRD5A2 SRY SUFU TBC1D24 TBX15 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TNXB TOE1 TRAIP TRIP13 TSPYL1 TWIST2 TXNDC15 VAMP7 VANGL1 WDR35 WNT4 WT1 WWOX ZFPM2 ZIC2 ZNF699 ZSWIM7 HP_AMBIGUOUS_GENITALIA_FEMALE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_FEMALE CYP11B1 CYP19A1 DHCR24 HSD3B2 MKS1 SRY TBX15 TNXB WT1 HP_AMBIGUOUS_GENITALIA_MALE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_MALE CYB5A CYP11A1 CYP17A1 DHCR24 HSD3B2 MKS1 SC5D SRD5A2 SRY TBX15 TSPYL1 WT1 HP_AMBLYOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBLYOPIA ACVRL1 ADAMTSL4 ADNP AFF4 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 ARHGEF2 ATOH7 B3GAT3 C1QBP CBS CDC42BPB CHN1 CHST3 CLCN6 CLN3 COL11A1 COL25A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 COX7B CRYAA CRYBB1 CRYGC DNMBP DPP6 DYRK1A ELN ELP4 ENG EPRS1 ERF FBN1 FGFR2 FGFR3 FLNA FOXL2 FZD4 GDF2 GPR143 GRHL2 H1-4 H4C3 HCCS HDAC4 HPS6 KAT6A KCNN2 KIF11 KIF21A KMT2D LAMA1 LIM2 LMBRD2 MAFB MAP3K7 MED12 MED25 MICU1 MLXIPL NDP NDUFB11 NF2 NFIX NOG NPHP4 NR2F1 OCRL OGT OVOL2 P4HTM PAX6 PDZD8 PHOX2A PIGN PITX2 POLR3GL PRR12 PRSS56 PUF60 RIC1 RORA RRAS2 SALL4 SCN8A SF3B2 SMAD4 SMCHD1 SMO SOBP TANGO2 TASP1 TBX1 TFE3 TRIO TUBA1A TUBB2B TUBB3 TWIST1 UFC1 VSX1 WAC WARS2 WDR26 XYLT2 YME1L1 ZEB1 ZFHX4 ZMIZ1 HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA BRAF HOXA11 MAP2K1 MECOM MPL PTPN11 HP_AMELOGENESIS_IMPERFECTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMELOGENESIS_IMPERFECTA ACP4 AMBN AMELX AMTN CLDN19 CNNM4 DLX3 DNAJC21 ENAM FAM20A FAM83H GPR68 ITGB6 KLK4 LAMA3 LAMB3 LTBP3 MMP20 ODAPH ORAI1 PEX1 PEX6 RELT ROGDI SATB1 SLC10A7 SLC13A5 SLC24A4 SMARCD2 SP6 STIM1 TMEM165 WDR72 HP_AMENORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMENORRHEA AGPAT2 AIP AKT1 ANOS1 ANTXR1 AR ATRX AXL BAP1 BMP15 BMP2 BMP6 BMPR1B BNC1 BPTF BRAF BRD4 BSCL2 C14orf39 CAV1 CAVIN1 CCDC141 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CDON CHD7 CISD2 CLPP CPE CTDP1 CYB5A CYP17A1 CYP19A1 DCC DHH DHX37 DIAPH2 DMRT3 DUSP6 EIF2B1 EIF2B2 EIF2B3 EIF2B4 ERAL1 ERCC6 ESR1 ESR2 FANCM FEZF1 FGF17 FGF8 FGFR1 FIGLA FLRT3 FOS FOXA2 FOXL2 FSHB FSHR GALT GATA3 GATA4 GDF9 GLI2 GNRH1 GNRHR GPR161 HAMP HARS2 HDAC8 HERC2 HESX1 HFE HFM1 HJV HS6ST1 HSD17B4 HSF2BP IL17RD ITGA8 KISS1 KISS1R KPNA7 LARS2 LEP LEPR LHB LHX4 LIG4 LMNA MAGEL2 MAP3K1 MCM8 MCM9 MEN1 MKRN3 MOS MRPS22 MSH4 MSH5 MSTO1 NDN NDNF NF2 NHLH2 NIN NIPBL NOBOX NPAP1 NR0B1 NR3C1 NR5A1 NSMF NUP107 OCA2 OTX2 PAPSS2 PCSK1 PDGFB PEX1 PEX6 PIK3CA POF1B POLG POLG2 POLR3H POR POU1F1 PPARG PRKAR1A PRLR PROK2 PROKR2 PROP1 PRORP PSMC3IP PSMD12 PWAR1 PWRN1 RAD21 RCBTB1 RNF216 ROBO1 SEMA3A SEMA3E SIM1 SLC29A3 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPIDR SPRY4 SRA1 SRY STAG3 SUFU SYCE1 TAC3 TACR3 TBL1X TERT TFR2 TKT TP53 TP63 TRAF7 TRMT10A TWNK USP48 USP8 VAMP7 WDR11 WNT4 WNT7A WRN WT1 WWOX YARS1 ZFPM2 ZSWIM7 HP_AMINOACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMINOACIDURIA AASS ABCD4 ACADM AGXT2 ALDH4A1 ALDH5A1 ALDH6A1 ALDOB AMT ARG1 ASL ASPA ASPH ATP7B ATPAF2 BCS1L CAMKMT CASR CBS CLCN5 CLTRN COA8 CPS1 CTH CTNS CYP27B1 CYP2R1 DDB2 DGUOK DHTKD1 DMGDH EHHADH ERCC2 ERCC3 ERCC4 ERCC5 ETFA ETFB ETFDH FAH FARS2 FH FOCAD FTCD GALE GALT GATM GCLC GEMIN4 GGT1 GLDC GLYCTK GPHN GSS GUCY2D HAL HCFC1 HGD HIBCH HNF4A IBA57 IVD KYNU LETM1 LIPT1 LMBRD1 MARS1 MCCC2 MMACHC MMADHC MOCS1 MOCS2 MT-TN MT-TS1 MTHFR MTR MTRR NADK2 NAGA NDUFAF6 NEU1 NFS1 NFU1 NGLY1 OAT OCRL OPLAH OTC PCCA PCCB PET100 PEX1 PEX5 PHYKPL PLOD2 PPM1B PRDX1 PREPL PRODH RRM2B SARDH SLC13A3 SLC19A2 SLC1A1 SLC25A13 SLC25A15 SLC2A2 SLC34A1 SLC35A1 SLC36A2 SLC3A1 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SLC7A9 SPINK5 SUCLA2 SUOX SURF1 TDO2 TK2 TNFRSF11A TNFRSF11B TRNT1 TRPV6 UMPS UQCRB VIPAS39 VPS33B XPA XPC HP_AMNIOTIC_CONSTRICTION_RING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMNIOTIC_CONSTRICTION_RING FERMT1 GJA1 GJB2 GLE1 KANK2 KRT1 LORICRIN POMP SMARCAD1 TP63 TRPV3 HP_AMYLOIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYLOIDOSIS APOA1 APOE APP ASXL1 B2M CCND1 COL7A1 CST3 FGA GPR35 GSN IL31RA ITM2B KIT LIG4 LYZ MEFV MMP1 MST1 NLRP1 NLRP3 OSMR POLA1 PRNP PSEN2 RET SAA1 SEMA4D SLC7A7 SRSF2 TACSTD2 TCF4 TET2 TNFRSF1A TTR HP_AMYOTROPHIC_LATERAL_SCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYOTROPHIC_LATERAL_SCLEROSIS ALS2 ANG ANXA11 ATXN2 C9orf72 CCNF CFAP410 CHCHD10 CHMP2B CYLD DAO DCTN1 EPHA4 ERBB4 FIG4 FUS GLE1 GLT8D1 HNRNPA1 HNRNPA2B1 KIF5A MAPT MATR3 NEFH NEK1 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH PSEN1 SETX SIGMAR1 SOD1 SPG11 SPTLC1 SQSTM1 TAF15 TARDBP TBK1 TIA1 TREM2 TRPM7 TUBA4A UBQLN2 UNC13A VAPB VCP HP_ANAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_ATRESIA ABL1 AMER1 AR ARVCF B3GLCT BCOR BRCA1 BRCA2 BRIP1 CAPN15 CCDC22 CCNQ CD19 CD81 CDC45 CDH1 CEP120 CHD7 CHRM3 COMT COX7B CR2 CTNND1 DACT1 DCHS1 DPYS DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EHMT1 EMC1 EPCAM ERCC4 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR2 FKRP FKTN FOXF1 FRAS1 FREM2 FUZ GATA1 GDF3 GDF6 GLI3 GP1BB GPC3 GPC4 GRIP1 HCCS HIRA HOXD13 HSPA9 ICOS IFT80 INTU IRF2BP2 JMJD1C KAT6B KDM6A KIF7 KMT2C KMT2D LARGE1 LONP1 MAD2L2 MAMLD1 MED12 MEOX1 MID1 MKKS MKS1 MNX1 MS4A1 MYCN NAA10 NBN NDUFB11 NFKB1 NFKB2 PALB2 PERCC1 PIGN PIGO PITX2 POMT1 POMT2 PPP2R3C PQBP1 PRKCD RAD51 RAD51C RECQL4 RFWD3 RIPK4 RNU12 RREB1 RSPO2 SALL1 SALL4 SEC24C SIN3A SLX4 SPINT2 TBC1D23 TBX1 TBX3 TBXT TCTN3 THOC6 TNFRSF13B TNFRSF13C TNFSF12 TNRC6B TWIST1 TWIST2 UBE2T UBR1 UFD1 UPB1 USP9X VANGL1 VPS35L WASHC5 WDR35 WNT3 WNT7A XRCC2 ZIC3 HP_ANAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISSURE ADAM17 COL7A1 CYBC1 EGFR MMP1 HP_ANAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISTULA CD3G ELF4 KDM6A KMT2D MNX1 NCF4 PKP1 SYK TGFB1 HP_ANAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_STENOSIS AMER1 CACNA1C CDC45 CDH11 CHD7 DCHS1 FAT4 FERMT1 FOXC1 FRAS1 FREM1 FREM2 GRIP1 HES7 KAT6B KDM6A KMT2D LIG4 MED12 MNX1 NBN NSUN2 PGAP2 PIGN PIGO PITX2 RIPK4 RMRP SALL1 SALL4 SMO SNRPB TBX3 TP63 HP_ANARTHRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANARTHRIA ALDH18A1 ALS2 ATP13A2 DNAJC6 FA2H FAR1 FTL FUS KMT2B PODXL SIGMAR1 SPG11 SPTLC1 SYNJ1 TBCE UBA1 HP_ANASARCA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANASARCA DEF6 DPAGT1 FARSB PLVAP PMM2 POLG PRKAG2 SCARB2 UBR1 HP_ANDROGEN_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANDROGEN_INSUFFICIENCY AR LHB MAMLD1 PMFBP1 SUN5 HP_ANEMIA_DUE_TO_REDUCED_LIFE_SPAN_OF_RED_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_DUE_TO_REDUCED_LIFE_SPAN_OF_RED_CELLS ABCB6 ABCG8 ACP5 ADA ADAMTS13 ADAR AK1 ALAD ALDOA ANK1 ATP11C ATP7B BANK1 BCL11A BLK BTNL2 C3 C4A C4B CASK CASP10 CD19 CD247 CD3G CD40LG CD46 CD59 CD81 CDAN1 CFB CFH CFHR1 CFHR3 CFI CIITA COL4A1 CPOX CR2 CTLA4 CYBC1 DEF6 DGKE DNASE1 EPB41 EPB42 ETS1 FAS FASLG FCGR2A FCGR2B FCGR3B FECH FOXP3 G6PD GALT GATA1 GCLC GNB2 GP1BA GPI GPX1 GSR GSS GYPC HBA1 HBA2 HBB HBG1 HBG2 HELLPAR HK1 HLA-DRB1 HMOX1 ICOS IFIH1 IGHG1 IL10 IL2RA IL2RB IRAK1 IRF2BP2 IRF5 ITGAM ITK JAZF1 KCNN4 KDM6A KIAA0319L KLF1 KMT2D KRAS LAT LCAT LCP2 LRBA MECP2 MS4A1 NBN NFKB1 NFKB2 NHLRC2 NLRP1 NRAS NT5C3A PDCD1 PFKM PGK1 PGM3 PI4KA PIEZO1 PIGA PIGT PIK3CG PKLR PNP PRKCD PSMG2 PTPN22 PXK RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RHAG RHCE RHD RNU7-1 SAT1 SLC19A1 SLC2A1 SLC4A1 SOCS1 SPP1 SPTA1 SPTB STAT1 STAT3 STAT4 STIM1 STK4 THBD TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF4 TNFSF12 TNFSF4 TNIP1 TOM1 TPI1 TPP2 TRAC TREX1 TTC7A UBE2L3 UROD UROS WAS WIPF1 ZAP70 HP_ANEMIA_OF_INADEQUATE_PRODUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_OF_INADEQUATE_PRODUCTION ABCB7 ABCD3 ABCD4 ACVRL1 ADA2 AGGF1 ALAS2 ALDOA ALG2 AMN APC ASXL1 ATP6AP1 ATRX BCL11A BRCA1 BRCA2 BRIP1 C2orf69 CARD10 CASP10 CAT CBLIF CD55 CDAN1 CDIN1 CLCNKB CLPX COL2A1 COL7A1 COX10 COX4I2 CP CUBN DAXX DHFR DIAPH1 DNAJC19 DNAJC21 DNM1L EFL1 EIF2AK3 ELF4 ELMO2 ENG ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FAS FASLG FDX2 FECH FGF23 FN1 FOXP3 FTCD GALNT2 GATA1 GDF2 HBA1 HBA2 HBB HBD HBG1 HBG2 HEATR3 HK1 HLA-DQA1 HLA-DQB1 HPRT1 HSCB HSPA9 IL6ST IREB2 IRX5 ISCU KARS1 KCNE1 KCNN4 KCNQ1 KIF23 KIT KLF1 LARS1 LARS2 LCAT LMBRD1 LPIN2 MAD2L2 MMACHC MMADHC MMP1 MTHFD1 MTR MTRR MVK MYD88 NAA10 OPA1 OSTM1 PALB2 PHGDH PIEZO1 PLA2G4A PNPO PRDX1 PSMB8 PSMC1 PSTPIP1 PUS1 RAC2 RACGAP1 RAD51 RAD51C RFWD3 RHAG RHCE RHD RIPK1 RMRP RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMD9L SBDS SCARB2 SEC23B SF3B1 SFXN4 SHPK SLC12A3 SLC19A1 SLC19A2 SLC25A10 SLC25A21 SLC25A38 SLC29A3 SLC35C1 SLC37A4 SLC46A1 SLC4A1 SLX4 SMAD4 SMPD1 SRD5A3 SRP54 SRSF2 STK11 SUCLA2 TAFAZZIN TCN2 TEK TET2 TF TGFB1 TKFC TMPRSS6 TOR1A TPI1 TREX1 TRNT1 TSR2 UBA1 UBE2T UMPS UQCRFS1 WAS WFS1 WIPF1 XRCC2 YARS2 ZNF699 HP_ANEMIC_PALLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIC_PALLOR ALAS2 BMPR1A ENG FANCA FANCC FANCD2 FANCE SMAD4 HP_ANENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANENCEPHALY B4GAT1 B9D1 B9D2 CC2D2A CCL2 CEP290 CEP55 CSPP1 DACT1 FLVCR2 FUZ GPKOW HOXD13 HYLS1 KIAA0586 KIF7 MKS1 NDE1 NUAK2 PHGDH RPGRIP1 RPGRIP1L SNRPB TBX15 TBXT TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIM36 TXNDC15 VANGL1 VANGL2 WDR81 HP_ANGINA_PECTORIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGINA_PECTORIS ABCA1 ABCC6 ABCG5 ABCG8 ACTC1 APOA1 APOB APOE ATP13A3 CTLA4 CYP27A1 ENPP1 GLA HLA-DPA1 HLA-DPB1 IDUA JAK2 JPH2 LCAT LDLR LDLRAP1 LIPC LMNA MPL PCSK9 PMM2 PNPLA2 PRTN3 PTEN PTPN22 TET2 TNNC1 TNNT2 TTR XYLT1 XYLT2 ZMPSTE24 HP_ANGIOEDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOEDEMA ANGPT1 CPN1 DNASE1L3 F12 HS3ST6 KIT KNG1 MYOF PLCG2 PLG SERPING1 SPINK5 XPNPEP2 HP_ANGIOFIBROMAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOFIBROMAS AKT1 CDKN1A CDKN1B CDKN2B CDKN2C HRAS IFNG KLLN KRAS KRT17 MEN1 MLH1 MSH2 MSH6 NRAS PIK3CA PLCD1 PTEN SDHB SDHC SDHD SEC23B SUFU TSC1 TSC2 USF3 HP_ANGIOID_STREAKS_OF_THE_FUNDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOID_STREAKS_OF_THE_FUNDUS ABCC6 AKT1 ENPP1 GALNT3 GGCX PIK3CA PTEN TNFRSF11B XYLT1 XYLT2 HP_ANGIOKERATOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOKERATOMA AGA FUCA1 GLA GLB1 MANBA NAGA HP_ANGIOSARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOSARCOMA ANGPT2 EPHB4 FLT4 GJC2 PIEZO1 HP_ANGLE_CLOSURE_GLAUCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGLE_CLOSURE_GLAUCOMA ATOH7 COL18A1 FZD4 LRP5 NDP TMEM98 HP_ANGULAR_CHEILITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGULAR_CHEILITIS AMN CAST CUBN DSC3 GJB2 GJB6 KRT16 KRT17 KRT6A KRT6B SREBF1 HP_ANGULATED_MUSCLE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGULATED_MUSCLE_FIBERS ANXA11 GDAP1 LRIF1 SMN1 SPTLC1 TRIP4 HP_ANHIDROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANHIDROSIS ALOX12B ALOXE3 ALPK1 BCS1L CAMK2B CLDN10 COL25A1 COQ2 DPP9 EDA EDAR EDARADD ERCC6 ERCC8 FUCA1 KIF1A KRT14 LMNB1 MBTPS2 NFKBIA NGF NGLY1 NTRK1 PAX9 PERP PKP1 RETREG1 RYR1 SCN9A SPTLC2 TRPV3 WNK1 ZFHX4 HP_ANHYDRAMNIOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANHYDRAMNIOS FGF20 GFRA1 ITGA8 ROBO1 TCTN2 HP_ANIRIDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANIRIDIA BRCA2 BTRC CHN1 DIS3L2 DLST DLX5 DLX6 ELP4 EPS15L1 FAM111A FBXW4 FH FOXC1 FOXE3 GPC3 H19 ITPR1 KIF1B LDHD MAFB MAX MDH2 NF1 PAX6 PITX2 PORCN POU6F2 REST RET SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLC25A11 TMEM127 TP63 TRIM28 TRIM44 TRIP13 VHL WNT10B WT1 HP_ANISOCORIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCORIA AAAS COL25A1 DDX6 GMPPA KCTD1 KIF21A LOXL1 PHOX2A PMP22 SH3TC2 SIN3A TMEM67 TUBA1A TUBB2B TUBB3 HP_ANISOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCYTOSIS ATPAF2 CASK CDAN1 CDIN1 G6PD GATA1 GLRX5 HBB KIF23 KLF1 NHLRC2 PKLR RACGAP1 RHAG RHCE RHD RPS14 TMPRSS6 TRNT1 UMPS UROS HP_ANISOMETROPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOMETROPIA AP1G1 CLCN3 COL25A1 KRAS RERE SLC35A2 ZFHX4 HP_ANISOPOIKILOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOPOIKILOCYTOSIS AMN CAD CLPB CRIPT CUBN HBB KCNN4 MPIG6B SC5D STEAP3 HP_ANKLE_CLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_CLONUS AARS1 ABCD1 ADGRG1 ANO10 ATL1 ATP6AP2 CAPN1 CARS1 CCDC88C CD40LG CYP27A1 CYP7B1 ERLIN2 FA2H FGF13 GALC GBA2 GFM2 HTT KIF1A KIF1C KIF5A KLC2 KPNA3 MARS1 NDUFS8 PEX16 PI4KA PIGT PLA2G6 POU3F4 PSAP RAB18 REEP1 RTN2 SAMD9L SELENOI SLC16A2 SLC1A4 SLC39A14 SLC52A3 SMG9 SOD1 SPART SPAST SPG11 SPTBN2 STUB1 SYNE1 TCEAL1 TIMM8A UCHL1 VAC14 VCP ZFYVE27 HP_ANKLE_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_CONTRACTURE ACTA1 ALAD ANO5 APC2 ATP5F1D C18orf32 C19orf12 CAPN3 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 DAG1 DDR2 DPM1 DYRK1A ERGIC1 ERLIN2 ESCO2 FIG4 FKBP10 FLNA HACD1 ITGA7 KLHL9 LGI4 MAP3K20 MMP2 MYL2 NEB NFATC2 NSD1 NT5C2 ORAI1 PI4KA PNPT1 PSAT1 REEP1 RPL10 RTTN RYR1 SCYL2 SELENON SETD2 SGCA SLC1A4 SPG11 SPTBN4 SVIL SYT2 TNNT1 TOR1AIP1 TPM2 TPM3 UBA1 VARS1 HP_ANKLE_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_PAIN COMP HYAL1 LEMD3 MAFB MATN3 HP_ANKLE_SWELLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_SWELLING ANGPT2 ANKRD55 CD247 FLT4 GJC2 IL2RA IL2RB MAFB PIEZO1 PTPN2 PTPN22 STAT4 HP_ANKLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_WEAKNESS AGRN AK9 BSCL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 LDB3 LRP4 MATR3 MUSK PMP22 RAPSN SCN4A TTN HP_ANKYLOBLEPHARON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOBLEPHARON BCOR CHUK CILK1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FREM2 IRF6 NAA10 RAX RIPK4 TP63 XPA XPC HP_ANKYLOGLOSSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOGLOSSIA ADNP AFF3 BCR CDC42BPB COL7A1 CRKL DDX59 FAM111A H4C5 KMT2D LMNA MAPK1 MID1 MMP1 NXN OFD1 POU4F1 PRR12 ROR2 RSPO2 SETBP1 SLC37A4 SPTBN1 TBX22 TELO2 ZMPSTE24 HP_ANKYLOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOSIS ADGRG6 ENPP1 FGFR1 FGFR2 GDF5 GNAI3 GNAS MBTPS2 MMP2 MUSK NOG PERP POR PTDSS1 TNFRSF11B TRPV3 WNT7A ZMPSTE24 HP_ANNULAR_PANCREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANNULAR_PANCREAS ASXL1 CASZ1 FANCD2 FLI1 FOXF1 GABRD HSPG2 KCNAB2 LUZP1 MMP23B MYCN PDPN PRDM16 PRKCZ RARB RECQL4 RERE RFX6 SETBP1 SIK3 SKI SPEN STRA6 TELO2 UBE4B WNT7B HP_ANODONTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANODONTIA DCAF17 DVL1 DVL3 EDA EDAR EDARADD ERCC1 ERCC4 ERCC6 ERCC8 FLNA FZD2 GRHL3 IFT122 NECTIN1 RPS6KA3 WNT5A HP_ANOMALOUS_TRICHROMACY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMALOUS_TRICHROMACY C1QTNF5 DNM1L GUCY2D NR2E3 OPA1 OPA3 OPN1LW OPN1MW OPN1SW POC1B RBP4 HP_ANOMIC_APHASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMIC_APHASIA CHMP2B GRN MAPT PLP1 PSEN1 TMEM106B TREM2 HP_ANONYCHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANONYCHIA ACTG2 APC ARHGAP31 ARID1A ARID1B ARX ATP2A2 ATP6V1B2 BCR CASK CDKL5 COL17A1 COL7A1 CRKL DLL4 DMXL2 DOCK6 DSP EOGT FIG4 GJB6 GNAO1 GPC4 GRHL2 GRIN1 GRM7 ITGB4 JUP KCNA1 KCNH1 KCNMA1 KCNN3 KRT14 LAMA3 LAMB3 LAMC2 LMX1B LRP4 MAPK1 MMP1 NEUROD2 NOG NOTCH1 PIGF PIGP PIGQ PLEC PNKP PORCN RBBP8 RBPJ RIPK4 ROR2 RSPO4 SCN1B SCN2A SIK1 SLC25A22 SLC25A24 SLC32A1 TBC1D24 TP63 TRIM8 WNT10A WNT7A ZBTB20 HP_ANOPHTHALMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOPHTHALMIA ALDH1A3 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BMP4 CC2D2A CEP290 CHD7 COL4A1 COX7B CRPPA CSPP1 DAG1 DOCK7 ERCC1 ERCC4 ERCC6 ERCC8 FANCB FKRP FKTN FRAS1 FREM1 FREM2 GLI2 GRIP1 HCCS HYLS1 KIF11 KIF7 LARGE1 MAB21L2 MKS1 NAA10 NDUFB11 NUAK2 OTX2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN RARB RAX RBP4 RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SF3B2 SHH SIX6 SMCHD1 SMOC1 SOX2 STRA6 TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WNT7B HP_ANORECTAL_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANORECTAL_ANOMALY AKT1 APC ARVCF AXIN2 BAZ1B BCL7B BCOR BMPR1A BUD23 CCBE1 CCNQ CDK8 CDKN2A CEACAM3 CEACAM6 CFTR CHEK2 CHN1 CLCA4 CLIP2 COL1A1 COL5A1 COL5A2 COMT COX7B CTC1 CYBA CYBB DACT1 DCTN4 DDB1 DICER1 DKC1 DNAJC30 DOCK2 EDNRA EIF4H ELN ENG EPCAM FAN1 FCGR2A FKBP6 FREM1 FREM2 GCLC GP1BB GREM1 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HCCS HFE HIRA HMOX1 HOXD13 IGHM IL10RB INSR ITGB2 JAK3 JMJD1C KCNN4 KEAP1 KIF7 KIT KLLN KRAS LIG4 LIMK1 LMNA LONP1 LTBP4 MAFB MDM2 METTL27 MID1 MIF MKKS MLH1 MLH3 MLXIPL MNX1 MSH2 MSH3 MSH6 MUTYH MYH11 NAA10 NBN NCF1 NCF2 NDUFB11 NHP2 NOP10 NPM1 NSUN2 NTHL1 OTUD5 PARN PDE11A PDGFRA PI4KA PIGN PIGV PIK3CA PMS1 PMS2 POLD1 POLE POLR1B POLR1C POLR1D PRKAR1A PRMT7 PTEN RAC2 RAD51C RECQL4 RFC2 RNF43 RNU12 RPS20 RPS6KA3 RREB1 RTEL1 SALL1 SALL4 SDHA SDHB SDHC SDHD SEC23B SEC24C SEMA4A SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SMAD4 SPINT2 STK11 STX1A TBL2 TBX1 TCOF1 TCTN3 TERC TERT TGFB1 TGFBR2 TINF2 TMEM270 TP53 TTC7A TYMS UBR1 UFD1 USB1 USF3 VANGL1 VPS37D WRAP53 HP_ANOREXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOREXIA ACAT1 ALPL AQP2 ARG1 ASXL1 ATM ATP1A2 ATP1A3 ATRX AVPR2 BCOR BRCA1 BRCA2 C4A CACNA1A CALR CBL CBS CCND1 CCR1 CD247 CD3D CD3E CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C DAXX ERAP1 FAS FIP1L1 FLI1 GBA1 GLA HLA-B HLA-DRB1 HLCS HMGCL IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R IRF2BP2 IRF4 JAK2 KLRC4 KRAS MC2R MECP2 MEFV MEN1 MLX MMADHC MMUT MPL MRAP MYD88 NABP1 NFS1 NNT NPM1 NUMA1 P4HA2 PALB2 PALLD PKHD1 PML PRKAR1A PTPN22 PTPN3 RABL3 RARA RUNX1 SCARB2 SLC19A2 SLC1A3 SLC39A4 SLC46A1 SLC4A1 SMAD4 SRSF2 STAR STAT3 STAT4 STAT5B SYK TBL1XR1 TET2 TGFB1 TLR4 TP53 TXNRD2 UBAC2 ZBTB16 HP_ANOSMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOSMIA ADCY3 ANK1 ANOS1 ARNT2 ARSL ATP13A2 CCDC141 CHD7 DCC DNAI1 DUSP6 FEZF1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FLRT3 FSHB GNRH1 HESX1 HS6ST1 IL17RD KISS1 KISS1R LZTFL1 MFN2 NDNF NHLH2 NSMF OTX2 PEX7 PHYH PROK2 PROKR2 SCN9A SEMA3A SEMA3E SHH SLC39A14 SMCHD1 SOX10 SOX2 SOX3 SPRY4 TAC3 TACR3 TCF12 WDR11 HP_ANOTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOTIA CDC45 CDC6 CDT1 DDX3X FANCB FANCL GMNN HOXA2 ORC1 ORC4 ORC6 POLR1A POLR1D SF3B2 HP_ANTECUBITAL_PTERYGIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTECUBITAL_PTERYGIUM ADGRG6 CHRNG CHUK IGF2 KIF14 LMX1B MYH3 HP_ANTENATAL_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTENATAL_ONSET ACTA1 ACTG2 ADCY6 ADGRG6 ALDH1A2 ALG1 ALG8 ALPK3 ALX4 ASNS ATP1A2 B4GAT1 B9D1 B9D2 BICC1 BICD2 BMPER BUB1B CACNA1S CALM2 CC2D2A CCDC134 CCDC88C CDC42BPB CENPE CHD7 CHRNG CHUK CILK1 CLPB CNTNAP1 COASY COL2A1 COX16 CPSF3 CPT2 CRB2 CREB3L1 CRLS1 CRTAP CYP26B1 DCC DDR2 DDRGK1 DEF6 DLL3 DNM1 DPH5 DYNC2LI1 EIF5A ERCC5 ERCC8 EXOC7 EXOSC9 EZH2 FANCB FARSA FARSB FGF20 FGFR3 FH FKBP14 FTO FZR1 GBA1 GFRA1 GINS1 GLDN GLUL GNPTAB GRIP1 GUSB HCFC1 HERC2 HNRNPK IARS1 IFIH1 IL6ST KDELR2 KDM6A KIAA0753 KIDINS220 KIF14 KIF20A KIF5C KIF7 KLF1 KMT2B KMT2D L1CAM LARS2 LBR LGI4 LMNA LMNB1 LMOD1 MAGEL2 MAP3K7 MBTPS2 MCM10 MDFIC MEGF10 MESP2 MINPP1 MKRN3 MKS1 MNS1 MPDZ MRPS22 MYH11 MYRF NAA20 NADK2 NDUFB11 NDUFB3 NDUFB7 NDUFC2 NEK8 NEK9 NPAP1 NRIP1 NSD1 NSD2 NUP155 NUP88 OBSL1 P3H1 PAICS PCDH12 PDX1 PI4KA PIGA PIGG PKHD1 PLCH1 PLEC PLG PLOD3 PLXND1 POMK PPP1CB PPP3CA PRIM1 PRKAG2 PRRX1 PSMD12 PTH1R PWAR1 PWRN1 PYCR1 RAC1 RAD21 RECQL4 RIPK4 RMRP RNF2 RNU4ATAC ROBO1 RPL10 RPL26 RSPO2 RYR1 RYR3 SAMHD1 SCN4A SCN5A SCUBE3 SDHA SDHD SEC24D SERPINH1 SHQ1 SIN3A SKIC2 SLC12A1 SLC25A19 SLC30A9 SLC31A1 SLC35A3 SLC35B2 SLC35D1 SNAP25 SNORD115-1 SNORD116-1 SOS1 SOX10 SOX18 SOX9 STRA6 STT3B SYNE1 SYT2 TAF2 TBX18 TBXT TCTN3 THSD1 TMEM216 TMEM218 TMEM38B TNFRSF11A TNNT2 TOGARAM1 TOP3A TPM1 TRAIP TRIP11 TRPV6 TWIST2 TXNDC15 UBR1 USP18 VRK1 WDR19 WDR4 WDR45B WNT3 WNT4 WT1 XYLT1 ZBTB42 ZIC2 ZIC3 ZMPSTE24 ZNF526 HP_ANTERIORLY_PLACED_ANUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIORLY_PLACED_ANUS ACADVL ATN1 B3GLCT C2CD3 CDC45 CDH11 CDK8 CDON CHD4 COX7B DACT1 DCHS1 DDB1 DDX3X DDX6 DISP1 DLL1 DVL3 ERCC4 ESCO2 FAT4 FGF8 FGFR2 FOXH1 FREM1 GAS1 GLI2 GLI3 HCCS KAT6B KYNU LRPPRC MED12 NDUFB11 NFIX NODAL PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY POR PORCN PTCH1 PTDSS1 RECQL4 RFX6 ROBO1 RRAS2 SALL1 SETBP1 SHH SIX3 SLC25A24 SNRPB STIL SUZ12 TDGF1 TGIF1 TP63 TWIST2 UBR1 ZIC2 HP_ANTERIOR_BEAKING_OF_LUMBAR_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_BEAKING_OF_LUMBAR_VERTEBRAE AGA FUCA1 GALNS GLB1 GUSB HP_ANTERIOR_CHAMBER_SYNECHIAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CHAMBER_SYNECHIAE ADAMTS17 ANKRD55 ASPH ATOH7 B3GLCT CD247 COL18A1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 HMX1 IL2RA IL2RB LARGE1 LCA5 LRAT MIR204 NDP OVOL2 PAX6 PITX2 PTPN2 PTPN22 PXDN RPE65 SPATA7 STAT4 VSX1 ZEB1 HP_ANTERIOR_CREASES_OF_EARLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CREASES_OF_EARLOBE BRAF GPC3 GPC4 PRR12 TBX1 HP_ANTERIOR_OPEN_BITE_MALOCCLUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION AMELX ATP6V1B2 BMP2 DSPP ENAM FAM83H GNAI3 GPR68 ITGB6 KCNH1 KCNMA1 KCNN3 KLK4 MMP20 RELT HP_ANTERIOR_PITUITARY_AGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_AGENESIS FOXA2 GATA6 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1 ROBO1 SIX3 HP_ANTERIOR_PITUITARY_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_DYSGENESIS ARNT2 CDC42BPB DMXL2 FGFR1 FOXA2 GATA6 GH1 GHRHR GLI2 HESX1 HID1 LHX3 LHX4 MADD MAGEL2 MTHFR NDN NONO OCA2 OTX2 POU1F1 POU3F4 PROKR2 PROP1 PTDSS1 RBM28 RNPC3 ROBO1 SIX3 SIX6 SNRPN SOX2 SOX3 TBX3 TTC26 VANGL2 ZSWIM6 HP_ANTERIOR_PLAGIOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PLAGIOCEPHALY ALX4 ATP6V1B2 PIGO TBC1D24 TCF12 HP_ANTERIOR_POLAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_POLAR_CATARACT COL4A3 CRYGB EBP HS2ST1 HSF4 MIR184 TAOK1 HP_ANTERIOR_RIB_CUPPING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_RIB_CUPPING ADA AIFM1 CFAP410 COL10A1 COL11A1 COL2A1 DDR2 DLK1 DNAJC21 EFL1 INPPL1 MEG3 RTL1 SBDS SLC35D1 SRP54 HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER ASPH COL18A1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 OVOL2 PAX6 PITX2 PXDN VSX1 ZEB1 HP_ANTERIOR_UVEITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_UVEITIS AIRE ANKRD55 CD247 HLA-B HLA-DRB1 IKBKG IL2RA IL2RB IL6 LACC1 MIF NOD2 PTPN2 PTPN22 STAT4 STUB1 TNFAIP3 HP_ANTEVERTED_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTEVERTED_EARS BCOR CACNA1G FGF3 HMGB3 KANSL1 KAT6A KCTD1 PBX1 RPL10 SYNGAP1 TTI2 HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY ARPC1B BACH2 BANK1 BLK C4A C4B CASP10 CLPB CR2 CTLA4 CTNNB1 DEF6 DNASE1 DNASE1L3 EIF2AK4 ELANE ETS1 FAS FASLG FCGR2B FCGR3B GFI1 HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITCH ITGAM JAZF1 KIAA0319L MECP2 PDCD1 PRKCD PTPN22 PXK RASGRP1 SAT1 SPP1 SRP19 SRP54 STAT4 STING1 TCIRG1 TLR7 TLR8 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 HP_ANTINUCLEAR_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY ACP5 ANKRD55 ARPC1B BANK1 BLK C1QB C1QC C4A C4B CARD10 CASP10 CD247 COPA CR2 CRYAB CTLA4 DNASE1 DNASE1L3 EIF2AK4 ETS1 FAS FASLG FCGR2A FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IL12A IL12RB1 IL2RA IL2RB IRAK1 IRF5 ITGAM JAZF1 KIAA0319L LACC1 LBR MECP2 MMEL1 MMP2 MS4A1 NLRP1 PDCD1 PLCG2 POMP POU2AF1 PRKCD PTPN2 PTPN22 PXK RASGRP1 RIPK1 SAT1 SLC7A7 SOCS1 SPIB SPP1 STAT4 STING1 TLR7 TNFAIP3 TNFSF15 TNFSF4 TNIP1 TNPO3 TREX1 UBE2L3 HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY ADA2 CASP10 CTLA4 DEF6 DNASE1 FAS FASLG FCGR2A FCGR2B IRAK1 PRKCD PTPN22 RASGRP1 SAT1 SPP1 STAT1 STAT4 STING1 TOM1 TREX1 HP_ANTI_ACETYLCHOLINE_RECEPTOR_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_ACETYLCHOLINE_RECEPTOR_ANTIBODY_POSITIVITY AGRN ALG14 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 MYO9A PLEC PREPL RAPSN SCN4A SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1 HP_ANTI_THYROGLOBULIN_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROGLOBULIN_ANTIBODY_POSITIVITY CARD10 NFKB2 POMP RASGRP1 THRB TSHR HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY ADA FOXP3 GLIS3 ITCH NFKB2 POMP RASGRP1 THRB TSHR HP_ANURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANURIA ACE AGT AGTR1 C3 CD46 CFB CFH CFHR1 CFHR3 CFI MYH11 REN THBD HP_AORTIC_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ANEURYSM ABL1 ACTA2 ADAMTS19 ADAR AEBP1 AFF4 ALDH18A1 ALDH1A2 ALG5 ALG9 ANGPTL6 APC2 ARF1 ARFGEF2 ATP2B1 ATP6V1A B3GALT6 B3GAT3 BAZ1B BCL7B BCR BGN BICC1 BRF1 BUD23 C12orf57 CARS1 CASZ1 CHD7 CHRNG CHST3 CLIP2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CRKL DNAJB11 DNAJC30 DNMT3A DPH5 EFEMP2 EIF4H ELN ENG ERCC6 ERCC8 ERMARD FBLN5 FBN1 FBN2 FKBP6 FLNA FLNB FMR1 FOXE3 GABRD GANAB GATA5 GJA5 GJA8 GTF2I GTF2IRD1 GTF2IRD2 HEY2 HGD HLA-B HLA-DRB1 HNRNPK HSPG2 IFIH1 IFNG IFT140 IL12B IPO8 KANSL1 KCNAB2 KCNH1 LIMK1 LMNA LOX LSM11 LUZP1 MAP1B MAPK1 MAT2A MED12 METTL27 MFAP5 MID1 MLX MLXIPL MMP23B MYH11 MYH3 MYLK MYPN NCF1 NEDD4L NKAP NKX2-5 NOD2 NODAL NOTCH1 NOTCH3 NPR3 NSD1 NSMCE2 P4HA2 PDPN PGM3 PIGN PKD1 PKD2 PLOD1 PPP1CB PRDM16 PRKCZ PRKG1 PTEN PTPN22 RAI1 RERE RFC2 RIN2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROBO4 SAMHD1 SEMA3E SETD2 SKI SLC25A24 SLC2A10 SMAD2 SMAD3 SMAD4 SMAD6 SPECC1L SPEN SPTBN1 STX1A TAB2 TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TMEM270 TMTC3 TNNT2 TPM2 TPM3 TREX1 TSC1 TSC2 UBE4B VPS37D ZMPSTE24 HP_AORTIC_ARCH_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ARCH_ANEURYSM ACTA2 BAZ1B BCL7B BUD23 CASZ1 CHD7 CLIP2 DNAJC30 EIF4H ELN FKBP6 GABRD GATA5 GTF2I GTF2IRD1 GTF2IRD2 HSPG2 KCNAB2 KCNH1 LIMK1 LOX LUZP1 METTL27 MLXIPL MMP23B NCF1 NKX2-5 NOTCH1 PDPN PRDM16 PRKCZ RERE RFC2 SEMA3E SKI SMAD6 SPEN STX1A TBL2 TGFBR2 TMEM270 UBE4B VPS37D HP_AORTIC_ATHEROSCLEROTIC_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ATHEROSCLEROTIC_LESION ABCG5 ABCG8 APOB APOE CYP7A1 LDLR LDLRAP1 LMNA PCSK9 HP_AORTIC_DISSECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_DISSECTION ABCC6 ACTA2 ANGPTL6 BGN COL3A1 ELN EMILIN1 ENG ENPP1 FBN1 FOXE3 GATA5 HEY2 HLA-B HLA-DRB1 IPO8 LOX MAT2A MFAP5 MYH11 MYLK NKX2-5 NOTCH1 P4HA2 PLOD1 PRKG1 PTPN22 ROBO4 SLC2A10 SMAD2 SMAD3 SMAD4 SMAD6 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 HP_AORTIC_REGURGITATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_REGURGITATION ACTA2 ADAMTS19 ALDH18A1 ARF1 ARFGEF2 ARSK ATP6V1E1 BCR BUB1 BUB1B BUB3 C12orf57 C4A CCNQ CCR1 CEP57 CHST14 CHST3 COA6 COL1A2 CRKL D2HGDH DOHH DYRK1A EHMT1 ELN ERAP1 ERMARD FAS FBLN5 FBN1 FLNA FOXE3 GATA4 GATA5 GJA5 GJA8 GNPTAB GNPTG HCN4 HEATR3 HEY2 HLA-B IDUA IFNGR1 IL10 IL12A IL12A-AS1 IL23R KIFBP KLRC4 LMNA LMOD2 LOX MAN2B1 MAP1B MAPK1 MAT2A MEFV MFAP5 MYH11 MYLK NEDD4L NKX2-5 NKX2-6 NOTCH1 PCGF2 PDSS1 PEX2 PLXND1 PRKG1 PUF60 SHOC2 SKIC2 SKIC3 SLC2A10 SLC35A1 SMAD2 SMAD3 SMAD4 SMAD6 SON SPRED2 SPTBN1 STAT4 SZT2 TAB2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLR4 TMTC3 TRIP13 TTC26 UBAC2 YY1AP1 ZMPSTE24 HP_AORTIC_ROOT_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ROOT_ANEURYSM ABL1 ACTA2 AEBP1 AFF4 ALDH1A2 ALG5 ALG9 ANGPTL6 ATP2B1 B3GALT6 B3GAT3 BGN BICC1 CARS1 CHST3 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DNAJB11 DNMT3A EFEMP2 ELN ENG ERCC6 ERCC8 FBN1 FBN2 FMR1 FOXE3 GANAB HEY2 HNRNPK IFT140 IPO8 KANSL1 KCNH1 LMNA LOX MAT2A MFAP5 MID1 MYH11 MYLK MYPN NKAP NPR3 PGM3 PIGN PKD1 PKD2 PPP1CB PRKG1 ROBO4 SLC2A10 SMAD2 SMAD3 SMAD4 SPECC1L TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TPM2 TPM3 HP_AORTIC_TORTUOSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_TORTUOSITY IPO8 MFAP5 SLC2A10 SMAD3 SMAD6 TGFB2 HP_AORTIC_VALVE_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_CALCIFICATION GATA5 GBA1 HGD IFIH1 LMNA NKX2-5 NOTCH1 RIGI SMAD6 ZMPSTE24 HP_AORTIC_VALVE_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_STENOSIS ACTB ADAMTS10 ADAMTSL2 AMER1 ANKS6 ARHGAP31 ARSK B4GALT7 BCOR CBL CCDC22 CHST3 CLIC2 CREBBP DPH1 DPH2 DPYSL5 DYRK1A EBP EHMT1 EP300 FBN1 FGFR1 FLI1 FOXF1 GATA5 GBA1 GLB1 GNPTG HAAO IDUA IFIH1 KRAS LMNA LTBP2 NEK8 NKX2-5 NOTCH1 NOTCH2 NPHP3 NR2F2 ODAD1 RIGI RMRP ROBO4 SCN1B SLC2A10 SMAD4 SMAD6 SNIP1 TAB2 TAF2 TRAF7 TTR TWIST1 VPS35L VWF WASHC5 WT1 ZEB2 ZMPSTE24 HP_AORTOPULMONARY_COLLATERAL_ARTERIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTOPULMONARY_COLLATERAL_ARTERIES ALDH1A2 FLT4 GDF1 KCNQ2 KCNT1 PIGA PKD1L1 PLCB1 PLXND1 SCN1A SCN2A SLC12A5 SLC25A22 TBC1D24 YY1 HP_APATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APATHY ACAT1 ALAD ATP13A2 ATXN10 BMP6 C9orf72 CACNA1A CDON CHCHD10 CHMP2B COQ2 CP DCTN1 DISP1 DLL1 DNAJC13 DNAJC6 DNMT1 EHMT1 EIF4G1 FGF8 FGFR1 FOXH1 FUS GAS1 GBA1 GDAP2 GFAP GIGYF2 GLI2 GM2A GRN HEXA HFE HLA-DQB1 HMGCL HTRA1 HTRA2 HTT JPH3 LRRK2 MAPT NODAL NOTCH3 PARK7 PDGFB PINK1 PLCH1 PLP1 PODXL PRKAR1B PRKN PRNP PSEN1 PTCH1 SHH SIX3 SLC2A3 SMARCB1 SMC1A SNCA SPAST SQSTM1 STAG2 STIL SYNJ1 TARDBP TBK1 TDGF1 TGIF1 TMEM106B TMEM240 TRANK1 TREM2 TREX1 TSFM UCHL1 VCP VPS13A VPS13C VPS35 ZIC2 HP_APHASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHASIA ABCA7 ACTB ACTG1 ADA2 ADAMTS2 ADAMTSL2 AMER1 APP ARVCF ATP1A2 ATRX CACNA1A CFH CFHR1 CFHR3 CHMP2B CKAP2L COL1A1 COL1A2 COMT COX7B CYLD DEPDC5 DNM1L EHMT1 FA2H FGFR1 FLCN FRRS1L GJB1 GP1BB GRIN2A GRN HCCS HIRA HLA-DQB1 HNRNPA1 HNRNPA2B1 HTRA1 JMJD1C KCNC2 KRAS L1CAM L2HGDH LGI1 MAPT MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NDUFA1 NDUFB11 NF2 NOTCH3 NPPA NPRL2 NPRL3 NSDHL OCRL PLEC PLP1 POLR1B POLR1C POLR1D PRNP PRRT2 PSEN1 PSEN2 RAI1 RELN RREB1 SCN1A SCN5A SEC24C SETBP1 SMARCA2 SMARCAL1 SORL1 SQSTM1 STS TBX1 TCF4 TCOF1 TIA1 TMEM106B TOMM40 TREM2 TREX1 UBTF UFD1 VCP HP_APHTHOUS_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHTHOUS_ULCER ADA2 C4A CARMIL2 CASP10 CCR1 CEBPE CLPB DCLRE1C ELANE ERAP1 FAS FASLG GFI1 HLA-B HLA-DQA1 HLA-DQB1 HYOU1 IFNGR1 IL10 IL12A IL12A-AS1 IL17RC IL21 IL23R IL6 KLRC4 MALT1 MEFV MVK NCF4 NLRP12 NLRP3 NOD2 ORAI1 PRKCD PRKDC RASGRP1 RIN2 RNF125 RORC SASH3 SRP19 SRP54 STAT4 STK4 TCIRG1 TICAM1 TLR4 TLR8 UBAC2 WDR1 HP_APLASIA_CUTIS_CONGENITA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA ALG9 ALX4 ARHGAP31 ATP6V1B2 BMS1 CDH1 COL17A1 COL7A1 COX7B CPLX1 CTBP1 DLL4 DOCK6 DSP EOGT FGFRL1 HSPA9 ITGA6 ITGB4 KCTD1 KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LETM1 MCTP2 MMP1 MSX2 NELFA NOTCH1 NSD2 PIGG PLEC RBPJ TAF1 TFAP2A UBA2 UBR1 HP_APLASIA_CUTIS_CONGENITA_OF_SCALP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP ALG9 ALX4 ARHGAP31 BMS1 CDH1 CPLX1 CTBP1 DLL4 FGFRL1 ITGA6 ITGB4 LETM1 MCTP2 MSX2 NELFA NSD2 PIGG PLEC UBA2 UBR1 HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS ARHGAP31 ITGA6 ITGB4 KRT14 KRT5 PLEC HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX BMS1 CDH1 DLL4 ITGB4 MCTP2 PLEC UBA2 HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON AARS1 ABCD1 ABCD4 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADA2 ADAMTS2 ADAMTSL2 ADAT3 ADGRG1 ADGRG6 AEBP1 AFF3 AFF4 AGA AGRN AHDC1 AIFM1 AKT1 ALDH1A2 ALG1 ALG12 ALG13 ALG14 ALG9 ALPL ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC7 ANK1 ANKLE2 ANKRD11 ANTXR1 APC ARCN1 ARID1B ARID2 ARL6IP6 ARSB ARSL ARVCF ARX ASNS ASXL1 ASXL3 ATAD3A ATP6AP2 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BANF1 BAZ1B BCAP31 BCL11A BCL11B BCL7B BCOR BDNF BGN BICD2 BICRA BLM BLTP1 BMP2 BMP4 BMPER BMPR1A BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 C12orf57 C1R C1S C2CD3 CA2 CACNA1C CAMTA1 CANT1 CARS1 CASK CASZ1 CBFB CBL CC2D2A CCDC22 CCDC32 CCL2 CD96 CDC42BPB CDC45 CDC6 CDCA7 CDK5 CDKN1C CDT1 CENPE CENPF CENPJ CEP120 CEP152 CEP290 CEP55 CEP57 CFL2 CHAT CHD4 CHD5 CHD7 CHD8 CHN1 CHRNA1 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCF1 CLCN3 CLIP2 CLPB CLTCL1 CNOT2 CNTNAP1 COASY COG1 COG4 COG7 COG8 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COMP COMT COX7B CPE CPLANE1 CPLX1 CREB3L1 CREBBP CRIPT CRLF1 CRTAP CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTDP1 CTNND2 CTSK CTU2 CUL7 CWC27 D2HGDH DCHS1 DDR2 DDRGK1 DDX3X DEAF1 DHCR24 DHCR7 DHODH DICER1 DIS3L2 DLK1 DNA2 DNAI1 DNAJC21 DNAJC30 DNMT3A DNMT3B DOCK6 DOK7 DONSON DPAGT1 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DSTYK DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DZIP1L EBP ECEL1 EDN1 EDNRA EED EFEMP2 EFNB1 EFTUD2 EIF2AK3 EIF4A3 EIF4H EIF5A ELN EMC1 EMG1 EP300 EPG5 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERGIC1 ERMARD ESCO2 EVC EVC2 EXT1 EXT2 EXTL3 EYA1 EZH2 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FBXL3 FBXO28 FBXW11 FDFT1 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLVCR2 FN1 FOCAD FOXC2 FOXF1 FOXG1 FRA10AC1 FRAS1 FUCA1 FUZ FZD2 GABRA3 GABRD GAD1 GALNS GATA1 GATA4 GATAD2B GBA1 GDF11 GEMIN4 GHR GJA1 GJA5 GJA8 GLB1 GLDN GLE1 GLI3 GMNN GNA11 GNAI3 GNB2 GNPAT GNPTAB GNS GOLGA2 GON7 GP1BB GPC3 GPC4 GPC6 GPKOW GPX4 GRB10 GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H4C9 HAAO HACD1 HBA1 HBA2 HCCS HDAC6 HDAC8 HEATR3 HECTD4 HELLS HES7 HIRA HMGA2 HMX1 HNRNPH2 HNRNPR HNRNPU HOXB1 HOXD13 HRAS HSD17B4 HSPG2 HUWE1 HYLS1 HYMAI HYOU1 IARS2 IDUA IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IGF1 IGF1R IGF2 IGFALS IHH INPPL1 INTS1 INTU IPO8 IQSEC2 IRF6 IRX5 ITGA7 JMJD1C KAT6A KAT6B KATNB1 KBTBD13 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK4 KCNK9 KCNMA1 KCNN3 KDM4B KDM5C KDM6A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF21A KIF26A KIF7 KLHL41 KMT2A KMT2D KNL1 KPTN KRAS KYNU LAGE3 LAMA5 LARGE1 LAS1L LBR LEMD2 LEMD3 LETM1 LFNG LGI4 LIFR LIG4 LIMK1 LMBRD2 LMNA LMOD3 LMX1B LONP1 LRP2 LRP4 LRPPRC LRRC32 LTBP4 LUZP1 LZTR1 MAD1L1 MAD2L2 MADD MAFB MAN2C1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MBD5 MCM5 MCTP2 MECP2 MED12 MEG3 METTL27 MID1 MINPP1 MIPEP MITF MKS1 MLXIPL MMP2 MMP23B MNX1 MPLKIP MRAS MSTO1 MSX2 MTX2 MUSK MYBPC1 MYCN MYF5 MYH3 MYH7 MYH8 MYL2 MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NBN NCAPG2 NCF1 NDE1 NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK9 NELFA NF1 NFASC NFIX NIPBL NKX3-2 NODAL NOG NOTCH2 NOTCH3 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE2 NSUN2 NUP107 NUP133 NUP85 NUP88 NXN OCLN OCRL OFD1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTX2 P4HB PAH PAICS PAK2 PALB2 PAM16 PAX1 PAX6 PAX7 PCGF2 PCNT PDE4D PDE6D PDGFRB PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM1 PHF21A PHGDH PHIP PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGQ PIGT PIGV PIGW PIGY PIK3CA PIK3R1 PKDCC PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB3 PLCB4 PLK4 PLVAP PLXND1 POC1A POGZ POLD1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 POR PORCN PPP1R12A PPP1R15B PPP3CA PQBP1 PRDM13 PRDM16 PRIM1 PRKAR1A PRKCZ PRORP PRRX1 PRUNE1 PSAT1 PSMB8 PSMC1 PSMD12 PSPH PTCH1 PTDSS1 PTEN PTH1R PTPN11 PUF60 PURA PUS1 PUS7 PYROXD1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RDH11 RECQL4 RELN RERE REV3L RFC2 RFT1 RFWD3 RHOBTB2 RIN2 RINT1 RIPK4 RIT1 RLIM RMRP RNF113A RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPO2 RTL1 RTTN RUNX2 RYR3 SALL4 SATB2 SC5D SCARF2 SCN4A SCUBE3 SCYL2 SEC24C SEC24D SEC31A SELENON SEMA5A SERPINH1 SETBP1 SETD2 SETD5 SF3B2 SF3B4 SFRP4 SH2B1 SH3PXD2B SHANK3 SHOX SIM1 SIN3A SIX1 SIX2 SIX6 SKI SLC10A7 SLC18A3 SLC25A1 SLC25A19 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35A3 SLC35B2 SLC35D1 SLC37A4 SLC5A7 SLX4 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMO SMOC1 SNAP25 SNIP1 SNRPB SNRPN SOS1 SOS2 SOX2 SOX6 SOX9 SP7 SPATA5L1 SPECC1L SPEG SPEN SPOP SPRED1 SPRED2 SPRTN SRCAP SRPX2 SRY SSR4 STAC3 STAG1 STAG2 STRA6 STX1A SUMF1 SUPT16H SUZ12 SYT2 TAB2 TAF1 TAPT1 TARS1 TASP1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBL2 TBX1 TBX15 TBX3 TBX4 TBX5 TBX6 TBXT TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TFAP2A TGDS TGFBR1 TGFBR2 THOC6 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TNFRSF11A TNNI2 TNNT3 TNRC6B TOE1 TOPORS TOR1A TP53RK TP63 TPM2 TPM3 TPRKB TRAIP TRAPPC2 TRIM37 TRIO TRIP11 TRIP13 TRIP4 TRMT10A TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSEN54 TSR2 TTN TUBA1A TUBB TUBB3 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBE2T UBE3B UBE4B UFD1 UNC80 UPF3B USB1 VAC14 VAMP1 VANGL1 VANGL2 VARS1 VPS13B VPS33B VPS35L VPS37D VPS53 WASHC5 WDR11 WDR26 WDR35 WDR4 WDR62 WDR73 WLS WNT3 WNT5A WNT7A WT1 XRCC2 XRCC4 XYLT1 YARS1 YARS2 YRDC YY1 ZBTB18 ZBTB24 ZC4H2 ZDHHC9 ZIC3 ZMIZ1 ZMPSTE24 ZNF292 ZNF335 ZNF341 ZNF668 ZNF699 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE ADAMTS10 ADAMTSL1 B9D1 B9D2 BAZ1B BCL7B BDNF BRCA1 BRCA2 BRIP1 BTRC BUD23 CC2D2A CEP290 CHN1 CLIP2 COL2A1 COL4A1 CPAMD8 CPLX1 CSPP1 CTBP1 DIS3L2 DLST DLX5 DLX6 DNAJC30 EIF4H ELN ELP4 EPS15L1 ERCC4 ERCC6 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW11 FBXW4 FGF3 FGFR1 FGFRL1 FH FKBP6 FOXC1 FOXE3 GPC3 GTF2I GTF2IRD1 GTF2IRD2 H19 HHAT HMX1 HS2ST1 IGF1R ITPR1 KIF1B LAMB2 LDHD LETM1 LIMK1 LMX1B LRP2 LTBP2 MAD2L2 MAFB MAX MDH2 METTL27 MIR184 MITF MKS1 MLXIPL MT-CYB NCF1 NDP NF1 NSD2 PALB2 PAX3 PAX6 PIK3R1 PITX2 PORCN POU6F2 PRR12 RAD51 RAD51C REST RET RFC2 RFWD3 RPGRIP1 RPGRIP1L SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLC25A11 SLX4 SOX10 STIM1 STX1A TBL2 TCTN1 TCTN2 TCTN3 TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TONSL TP63 TRIM28 TRIM44 TRIP13 TXNDC15 UBE2T VHL VPS37D VSX1 WDR73 WNT10B WT1 XRCC2 XYLT2 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE AARS1 ABCA4 ABCB6 ACTB ACTG1 ADAMTS10 ADAMTSL1 ALDH1A2 ALDH1A3 ALDH6A1 ALX1 ALX3 ALX4 ANKRD11 AP2M1 AP3D1 APC ARHGAP31 ARNT2 ARSL ARVCF ARX ASNS ASPH ATAD3A ATF6 ATN1 ATOH7 B3GALNT2 B4GAT1 B9D1 B9D2 BAZ1B BCL7B BCOR BDNF BEST1 BLOC1S3 BLOC1S5 BMP4 BRCA1 BRCA2 BRIP1 BTRC BUB1 BUB1B BUB3 BUD23 C12orf57 CACNA1C CACNA1F CAPN15 CARS1 CASK CC2D2A CDC42BPB CDON CENPF CEP120 CEP290 CEP57 CEP85L CFAP418 CHD2 CHD7 CHN1 CHUK CLIP2 CNGA3 CNGB3 COL18A1 COL25A1 COL2A1 COL4A1 COMT COX14 COX7B CPAMD8 CPLX1 CRB1 CRPPA CRYAA CSPP1 CTBP1 CTDP1 CTNNB1 DACT1 DAG1 DCT DDHD2 DHCR7 DIS3L2 DLL4 DLST DLX5 DLX6 DNAJC30 DNMT3A DOCK6 DOCK7 DONSON DPYD EBP EIF4H ELN ELOVL4 ELP4 EOGT EPG5 EPS15L1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 EXOC2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW11 FBXW4 FDFT1 FGF3 FGFR1 FGFRL1 FH FIG4 FKBP6 FKRP FKTN FOXA2 FOXC1 FOXC2 FOXE3 FOXL2 FRAS1 FREM1 FREM2 FZD4 GATAD2B GDF3 GDF6 GJA1 GJA5 GJA8 GLI2 GLI3 GLYCTK GMPPB GNAT2 GNPAT GP1BB GPC3 GPR143 GPR161 GPRASP2 GRIA4 GRIP1 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H19 HCCS HDAC6 HESX1 HHAT HIRA HMGB3 HMX1 HNRNPK HNRNPU HPS4 HPS5 HPS6 HRAS HS2ST1 HSPG2 HYLS1 IFT74 IGF1R IKBKG INTS1 INTU ITPR1 JAM3 JARID2 JMJD1C KCNK4 KERA KIF11 KIF14 KIF15 KIF1B KIF21A KIF7 KMT2D KNSTRN KRAS LAMB2 LARGE1 LDHD LETM1 LHX3 LHX4 LIMK1 LMBRD2 LMX1B LRP2 LRP5 LTBP2 LYST MAB21L2 MACF1 MAD2L2 MAF MAFB MAP2K2 MAPRE2 MAX MBTPS2 MC1R MDH2 MED12 MED13L MED25 MEF2C METTL27 MFRP MIR184 MITF MKS1 MLXIPL MPDZ MPLKIP MT-CYB MTSS2 MYO5A NAA10 NCF1 NDE1 NDP NDUFB11 NEFL NEU1 NEXMIF NF1 NFIX NHS NOTCH1 NR2F1 NRAS NSD2 NUAK2 NUP188 OCA2 OCRL OSGEP OTUD5 OTX2 PALB2 PAX2 PAX3 PAX6 PCYT1A PDE6C PDE6D PDE6H PDGFRB PEX7 PHGDH PHOX2A PHYH PIEZO2 PIGN PIK3CA PIK3CD PIK3R1 PITX2 PITX3 PLK4 PLXNA1 POGZ POLR1B POLR1C POLR1D POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU6F2 PPP1CB PPP2R1A PQBP1 PRIM1 PROKR2 PROM1 PROP1 PRPH2 PRPS1 PRR12 PRSS56 PTCH1 PTF1A PTPN23 PUF60 PXDN RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARB RAX RB1 RBBP8 RBP4 RBPJ RECQL4 RERE REST RET RFC2 RFWD3 RFX7 RHOA RIPK4 RMRP RNF113A RNF135 ROBO1 RPGR RPGRIP1 RPGRIP1L RREB1 RSPO2 RTTN RXYLT1 SALL1 SALL4 SCN1A SCN8A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEM1 SEMA3E SETD2 SETD5 SF3B2 SHH SIN3A SIX3 SIX6 SLC16A12 SLC24A5 SLC25A11 SLC25A19 SLC25A24 SLC2A1 SLC38A8 SLC45A2 SLC6A1 SLX4 SMAD4 SMC5 SMCHD1 SMG9 SMO SMOC1 SNAP29 SNX10 SON SOX10 SOX2 SOX3 SPECC1L SPOP SRD5A3 STAG2 STIM1 STRA6 STX1A SYCE1 SYNGAP1 TARS1 TBC1D20 TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TCOF1 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TKFC TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM98 TMTC3 TOGARAM1 TONSL TP63 TRIM28 TRIM44 TRIP13 TRIT1 TSPAN12 TUBA1A TUBA8 TUBB TUBB2B TUBB3 TUBGCP4 TUBGCP6 TXNDC15 TYR UBE2T UFD1 UGP2 VAC14 VAX1 VHL VPS13B VPS35L VPS37D VSX1 VSX2 WDR11 WDR37 WDR73 WNT10B WNT3 WNT7B WT1 XRCC2 XYLT2 YAP1 YME1L1 ZEB2 ZIC1 ZNF408 ZNF699 ZPR1 ZSWIM6 HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS ABCA4 ALDH1A2 ALDH1A3 ANKRD11 AP3D1 APC ARNT2 ARSL ASNS ATAD3A ATF6 ATOH7 B3GALNT2 BLOC1S3 BLOC1S5 CACNA1C CACNA1F CASK CDC42BPB CDON CENPF CEP85L CFAP418 CHN1 CNGA3 CNGB3 COL18A1 COL25A1 CRPPA DCT DDHD2 DNMT3A DPYD EBP ELOVL4 EPG5 ERF EXOC2 FANCB FANCI FDFT1 FGFR1 FKRP FKTN FOXA2 FOXC1 FZD4 GATAD2B GDF3 GDF6 GLI2 GLYCTK GMPPB GNAT2 GNPAT GPR143 GPR161 GRIA4 HESX1 HMX1 HNRNPK HNRNPU HPS4 HPS5 HPS6 IFT74 IKBKG KCNK4 KIF14 KIF21A KNSTRN LAMB2 LARGE1 LHX3 LHX4 LYST MACF1 MAF MAFB MAP2K2 MBTPS2 MC1R MED12 MEF2C MPDZ MTSS2 MYO5A NDE1 NDP NEFL NEU1 NFIX NR2F1 OCA2 OTUD5 OTX2 PAX6 PDE6C PDE6H PHOX2A PIK3CD PLXNA1 POGZ POLR3A POMGNT1 POMK POMT1 POMT2 POU1F1 PPP1CB PPP2R1A PROKR2 PROM1 PROP1 PRPH2 PRPS1 PRR12 PTF1A PTPN23 PUF60 RECQL4 RFX7 RNF113A RNF135 ROBO1 RPGR RSPO2 RTTN SALL4 SCN8A SETD2 SIX6 SLC24A5 SLC25A19 SLC38A8 SLC45A2 SNAP29 SON SOX2 SOX3 SPOP SRD5A3 STAG2 TRIM44 TRIT1 TUBA1A TUBA8 TUBB2B TUBB3 TYR UGP2 WDR11 WNT3 WT1 YME1L1 ZIC1 ZPR1 ZSWIM6 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET ABCC9 ACVR1 ADA ADAMTS2 ADAMTSL2 ADNP ALMS1 ALOX12B ALOXE3 APC ARHGAP31 ARID1B ARL6 ARSL ASAH1 ASXL1 ATP6V1B2 B3GLCT BBS1 BGN BHLHA9 BMP2 BMPR1B BPNT2 BRD4 C12orf57 CAMK2G CANT1 CASZ1 CCBE1 CCDC28B CCDC47 CDC42BPB CDKL5 CENPE CEP120 CERT1 CHD7 CHST11 CHSY1 COG1 COG4 COL11A1 COL2A1 COL3A1 COX4I1 CPLX1 CTBP1 CTSK CUL4B DACT1 DCHS1 DCLRE1C DHCR7 DLK1 DLL4 DLX5 DNMT3A DOCK6 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EIF4A3 EOGT EP300 EZH2 FAM50A FAT4 FBN1 FBXL4 FBXO11 FGD1 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLNA FLNB FMR1 GABBR2 GABRD GALNT2 GDF5 GHR GJA1 GLI3 GNAS GPC3 GPC4 GPX4 GRIP1 H4C3 HBA1 HBA2 HDAC4 HDAC6 HDAC8 HEATR3 HEPHL1 HERC2 HINT1 HNRNPR HOXA13 HOXD13 HSPG2 HTT HUWE1 IFT122 IFT140 IFT172 IFT52 IFT80 IGF1R IHH IL2RG IL7R INPPL1 IQCE KAT6A KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNN3 KDM4B KDM5C KIAA0753 KIF5C KMT2A KNSTRN LAS1L LBR LETM1 LIG4 LMBR1 LMNA LRP4 LTBP3 LUZP1 LZTFL1 MAGEL2 MAP3K20 MAP3K7 MAPK8IP3 MASP1 MBD5 MECP2 MEG3 MGP MIA3 MKRN3 MMP23B MSL3 MYCN NDN NEK1 NELFA NGLY1 NIPBL NOG NOTCH1 NOTCH2 NPAP1 NPR2 NSD2 NSDHL NSUN2 NTNG1 OCA2 OFD1 PDE4D PDGFRB PDPN PEX7 PHF6 PHYH PIGF PIGG PIGL PIGN PIGS PIGV PIK3CD POC1A PORCN PPM1D PRDM16 PRKAR1A PRKCZ PRKG2 PRMT7 PTH1R PTHLH PUF60 PWAR1 PWRN1 RAB23 RAB33B RAB3GAP2 RAD21 RAG1 RAG2 RBPJ RECQL4 RERE RIPK4 RMRP RNF2 RNU4ATAC ROBO1 ROR2 RSPRY1 RTL1 SALL1 SALL4 SATB1 SATB2 SF3B4 SHOX SIL1 SIM1 SIN3A SKI SLC26A2 SLC35C1 SMAD4 SMARCA2 SMARCA4 SMC1A SMC3 SMOC1 SNORD115-1 SNORD116-1 SNRPN SON SOX9 SPART SPECC1L SPEN SRY SVBP TBC1D24 TBCE TBL1XR1 TBX22 TBX3 TCF4 TELO2 TGDS TNNT3 TONSL TP63 TPR TRIP11 TRPS1 TRPV4 TRRAP TTC21B TUBB3 TWIST1 UBE2A UBE4B USP7 USP9X VAC14 VPS13B VPS35L WASF1 WDR19 WDR35 WDR81 WLS WNT10B WNT7A ZMIZ1 ZMYM2 ZNF407 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS ABCC9 ACVR1 ADA ADAMTS2 ADAMTSL2 ADNP AFF3 AFF4 AGPS AIFM1 ALG12 ALMS1 ALOX12B ALOXE3 ALPL AMER1 AMMECR1 ANAPC1 APC ARHGAP31 ARID1B ARL6 ARL6IP6 ARSL ASAH1 ASXL1 ATP6V1B2 ATP7A ATR B3GALT6 B3GLCT BBS1 BGN BHLHA9 BMP2 BMPR1B BPNT2 BRD4 C12orf57 CAMK2A CAMK2G CANT1 CASZ1 CCBE1 CCDC28B CCDC47 CCN6 CDC42BPB CDC45 CDC6 CDH11 CDKL5 CDT1 CENPE CEP120 CERT1 CFAP410 CHD4 CHD7 CHRNG CHST11 CHST3 CHSY1 CHUK COG1 COG4 COL11A1 COL2A1 COL3A1 COMP COX4I1 CPLANE1 CPLX1 CTBP1 CTC1 CTSK CUL4B DACT1 DCHS1 DCLRE1C DDRGK1 DHCR7 DLK1 DLL4 DLX5 DNMT3A DOCK6 DONSON DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EIF4A3 EOGT EP300 ESCO2 EXOC6B EXT1 EXT2 EZH2 FAM50A FAT4 FBN1 FBXL4 FBXO11 FGD1 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FLI1 FLNA FLNB FMR1 FN1 FZD2 GABBR2 GABRD GALNT2 GDF5 GHR GJA1 GJB2 GJB6 GLI3 GMNN GNA11 GNAS GPC3 GPC4 GPC6 GPX4 GRIP1 H4C3 HBA1 HBA2 HDAC4 HDAC6 HDAC8 HEATR3 HEPHL1 HERC2 HINT1 HNRNPR HOXA13 HOXD13 HSPG2 HTT HUWE1 HYLS1 IDUA IFNGR1 IFT122 IFT140 IFT172 IFT52 IFT80 IGF1R IHH IL2RG IL7R INPPL1 INTU IQCE KAT6A KAT6B KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNN3 KDM4B KDM5C KIAA0753 KIF5C KMT2A KNSTRN LAMA5 LAS1L LBR LETM1 LIFR LIG4 LMBR1 LMNA LMX1B LRP4 LTBP3 LUZP1 LZTFL1 MAGEL2 MAP3K20 MAP3K7 MAPK8IP3 MASP1 MATN3 MBD5 MBTPS1 MECP2 MEG3 MET MGP MIA3 MKRN3 MMP13 MMP23B MMP9 MSL3 MTHFS MTX2 MYCN NANS NDN NEK1 NELFA NGLY1 NIPBL NOG NOTCH1 NOTCH2 NPAP1 NPR2 NSD2 NSDHL NSUN2 NTNG1 OCA2 OFD1 ORC1 ORC4 ORC6 PAPSS2 PDE4D PDGFRB PDPN PEX5 PEX7 PHF6 PHYH PIGF PIGG PIGL PIGN PIGS PIGV PIK3C2A PIK3CD PITX1 POC1A POLR3A POP1 PORCN PPIB PPM1D PRDM16 PRG4 PRKAR1A PRKCZ PRKG2 PRMT7 PTH1R PTHLH PUF60 PWAR1 PWRN1 RAB23 RAB33B RAB3GAP2 RAD21 RAG1 RAG2 RBM8A RBPJ RECQL4 RERE RIPK4 RMRP RNF2 RNU4ATAC ROBO1 ROR2 RSPRY1 RTL1 RUNX2 SALL1 SALL4 SATB1 SATB2 SERPINH1 SF3B4 SHH SHOX SIL1 SIM1 SIN3A SKI SLC10A7 SLC26A2 SLC31A1 SLC35A2 SLC35C1 SLC35D1 SLC39A13 SMAD4 SMARCA2 SMARCA4 SMC1A SMC3 SMOC1 SNORD115-1 SNORD116-1 SNRPN SON SOX9 SPART SPECC1L SPEN SRY STXBP1 SUCLG1 SVBP TAPT1 TBC1D24 TBCE TBL1XR1 TBX15 TBX22 TBX3 TBX4 TCF4 TCTN3 TELO2 TGDS TMEM67 TNFRSF11A TNNT3 TONSL TP63 TPR TRAF3IP1 TRAPPC2 TRIP11 TRPS1 TRPV4 TRPV6 TRRAP TTC21B TUBB3 TWIST1 UBE2A UBE4B UBR7 USP7 USP9X VAC14 VPS13B VPS35L WASF1 WDR19 WDR35 WDR81 WLS WNT10B WNT7A XYLT1 ZMIZ1 ZMYM2 ZNF407 ZSWIM6 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX ACTB ALDH1A2 ALG12 ALPL ALX4 ARID1B ATP6V1B2 ATP7A ATR B3GALT6 B3GAT3 B4GALT7 B4GAT1 BCOR BGN BMP2 BMPER BMPR1A BUB1B C2CD3 CASZ1 CBFB CCDC22 CDC42BPB CDC45 CDC6 CDT1 CENPJ CEP120 CEP152 CHD4 CHST3 COL11A1 COL11A2 COL2A1 CPLANE1 CSPP1 CTSK CUL7 DCHS1 DDR2 DDRGK1 DLK1 DNMT3A DONSON DPYSL5 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFNB1 ERMARD EVC EVC2 EZH2 FAT4 FBN1 FBXL3 FGFR1 FGFR2 FGFR3 FIG4 FLI1 FLNA FLNB FRA10AC1 FRAS1 FUZ GABRD GMNN GNPTAB GPC3 GPC4 GPX4 GSC HDAC6 HES7 HNRNPR HOXD13 HSPG2 IDUA IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 INTU KCNAB2 KIAA0586 KMT2A KYNU LAMA5 LBR LEMD2 LMNA LMX1B LRP2 LUZP1 MEG3 MMP23B MSX2 MYF5 NAA10 NALCN NEK1 NFASC NFIX NIPBL NKX3-2 NOG NSDHL NUP88 ORC1 ORC4 ORC6 PAICS PAM16 PCGF2 PCNT PDPN PIGL PLCB3 POR PORCN PRDM16 PRIM1 PRKCZ PSMB8 PTCH1 PTDSS1 PTEN PTH1R PTPN11 PUF60 RBM10 RERE RIPK4 RNU12 RNU4ATAC ROR2 RPS19 RRAS2 RSPO2 RTL1 RUNX2 SALL4 SCARF2 SCUBE3 SETBP1 SF3B4 SIX6 SKI SLC26A2 SLC35D1 SMO SNRPB SOX2 SOX9 SPEN SRCAP TAPT1 TBC1D24 TBCK TBX15 TBX3 TBX5 TBX6 TMEM231 TOR1A TRIP11 TRPV4 TRPV6 TWIST1 UBA1 UBE4B VAC14 VANGL1 VPS35L WASHC5 WDR35 WNT3 WNT7A XYLT1 ZMPSTE24 HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS ABCA12 ABCC9 ACAN ACP5 ACTL6B ACVR1 ADA2 ADAMTS10 ADAMTSL2 ADNP AFF4 AGPS AIFM1 ALDH18A1 ALG12 ALG13 ALG6 ALMS1 ALOX12B ALOXE3 ANAPC1 ANKRD11 ANTXR2 AP1G1 APC ARHGAP31 ARID1A ARID1B ARID2 ARSL ARX ASAH1 ASPH ASXL2 ATP6V1B2 ATP7A ATR B2M B3GALT6 B3GLCT BCOR BCR BGN BHLHA9 BICRA BMP2 BMP4 BMPR1B BPNT2 BPTF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BTRC CACNA2D1 CAMK2G CAMTA1 CANT1 CASK CBFB CCBE1 CCDC22 CCDC8 CCNQ CD96 CDC42BPB CDH11 CDK10 CDKL5 CDKN1C CENPE CEP152 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST11 CHST3 CHSY1 CHUK CLCN7 CNOT2 CNOT3 COG1 COG4 COL10A1 COL11A1 COL11A2 COL25A1 COL2A1 COL3A1 COL9A2 COL9A3 COMP COX4I1 CPLX1 CREBBP CRIPT CRKL CRLF1 CSGALNACT1 CTBP1 CTNND2 CTSK CUL3 CUL4B CUL7 CWC27 DCHS1 DDR2 DHCR7 DHODH DLK1 DLL4 DLX5 DLX6 DMXL2 DNMT3A DOCK6 DONSON DPF2 DPH1 DPH2 DPM1 DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EDA EDA2R EIF2AK3 EIF4A3 EN1 EOGT EP300 EPS15L1 ERCC4 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBXL3 FBXO11 FBXO28 FBXW4 FERMT1 FGD1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FLNA FLNB FMR1 FN1 FRAS1 FTSJ1 FZD2 GABBR2 GALNT2 GATA1 GDF5 GGCX GJA1 GJA5 GJA8 GLI1 GLI3 GMNN GNAO1 GNAS GNAS-AS1 GNB2 GNPAT GNPTAB GPC3 GPC4 GPC6 GPX4 GRIN1 GRM7 GSC HDAC4 HDAC6 HDAC8 HEATR3 HERC2 HESX1 HHAT HMGA2 HNRNPR HOXA13 HOXD13 HPGD HTT HUWE1 HYLS1 IFT122 IFT140 IFT43 IFT52 IFT57 IFT80 IFT81 IGF1R IGF2 IHH IKBKG INPP5K INPPL1 INTU IRX5 JAG1 KAT6B KCNA1 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNN3 KDM1A KDM4B KDM5C KDM6A KIAA0753 KIF15 KIF21A KIF22 KIF5C KIFBP KLHL15 KMT2A KMT2D KNSTRN KRAS LAMA5 LAS1L LBR LETM1 LHX3 LHX4 LIG4 LMBR1 LMNA LMNB2 LONP1 LRP4 LTBP2 LTBP3 MACROH2A1 MAD2L2 MAFB MAGEL2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MATN3 MBD5 MCTP2 MECOM MECP2 MED12 MEG3 MEGF8 MEIS2 MGP MIR140 MIR17HG MKRN3 MMP13 MMP9 MRPS28 MSL3 MTFMT MTHFS MTOR MYCN MYH3 MYSM1 NALCN NANS NDN NEK1 NELFA NEPRO NEUROD2 NFIX NGLY1 NHS NIN NIPBL NOG NOTCH1 NOTCH2 NPAP1 NPR2 NSD2 NSDHL NSUN2 NTNG1 NXN OBSL1 OCA2 OFD1 ORC1 P3H1 PALB2 PCGF2 PCNT PCYT1A PDE3A PDE4D PDGFRB PEX5 PEX7 PGAP2 PGAP3 PHF6 PHOX2A PHYH PIGB PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLXND1 PNKP POC1A POLA1 POLR3A POR PORCN POU1F1 PPM1D PPP2R3C PRIM1 PRKACA PRKACB PRKAR1A PRKG2 PRMT7 PROP1 PSMD12 PTCH1 PTDSS1 PTH1R PTHLH PUF60 PUM1 PWAR1 PWRN1 RAB33B RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAI1 RB1 RBBP8 RBM10 RBM8A RBPJ RECQL4 REV3L RFWD3 RIPK4 RMRP RNF2 RNU4ATAC ROBO1 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RSPO2 RSPRY1 RTL1 RUNX2 RYR3 SALL4 SATB1 SATB2 SCARF2 SCN1B SCN2A SCUBE3 SEM1 SEMA5A SETBP1 SF3B4 SH3PXD2B SHH SHOX SIK1 SIL1 SIM1 SIN3A SLC25A22 SLC25A24 SLC26A2 SLC32A1 SLC39A13 SLC6A17 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOX11 SOX4 SOX9 SPECC1L SRCAP SRY STAMBP STX16 SUCLG1 SVBP TBC1D24 TBCE TBL1XR1 TBX3 TBX5 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TGFB1 TMEM53 TNFRSF11B TNNI2 TNNT3 TONSL TP63 TPM2 TRIM8 TRIO TRIP11 TRPM3 TRPS1 TRPV4 TSR2 TUBA1A TUBB2B TUBB3 TWIST1 TWIST2 UBE2T UNC80 USP7 USP9X VAC14 VPS13B VPS35L WAC WDR19 WDR35 WDR81 WIPI2 WNT10B WNT5A WNT7A WRN XRCC2 XYLT1 YY1AP1 ZBTB20 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699 HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES AFF4 ALG12 APC ATR B2M BHLHA9 BMPR1B BRCA1 BRCA2 BRIP1 CCDC8 CCNQ CHD7 CHN1 CHST3 COL2A1 CUL7 DHCR7 DHODH DONSON DYNC2H1 EIF4A3 ERCC4 ESCO2 EXOC6B EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR1 FGFR2 FGFR3 FKBP10 FLNB GDF5 GLI3 GSC HOXD13 IFT81 IHH JAG1 LMBR1 LRP4 MACROH2A1 MAD2L2 MAFB MMP13 MMP9 MYH3 NALCN NIPBL NOG NPR2 OBSL1 PALB2 PDE4D PIGT PITX1 PLXND1 PRKAR1A RAD51 RAD51C RBM10 RBM8A RECQL4 REV3L RFWD3 RIPK4 ROR2 RPL26 RPS19 SALL4 SCARF2 SF3B4 SHH SHOX SLX4 TBX3 TBX5 TGFB1 TNNI2 TNNT3 TPM2 TRIO TRIP11 UBE2T VPS35L WNT7A XRCC2 ZIC3 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES ALDH18A1 COMP DYM EIF2AK3 EXOC6B GNPTAB KIF22 LMBR1 NANS RBM8A RECQL4 RSPRY1 SALL4 TRPV4 WNT7A XRCC2 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK AIFM1 B3GALT6 BMPR1B CANT1 CCN6 CFAP410 CHD4 CHST3 COL2A1 COMP CTC1 DDRGK1 DLK1 EXOC6B FGFR3 FN1 IDUA IFNGR1 IFT140 IHH LBR MATN3 MBTPS1 MEG3 MMP9 MTX2 NANS PEX5 PIK3C2A POC1A POP1 PRG4 RAD21 RSPRY1 RTL1 RUNX2 SHOX SLC10A7 SLC26A2 SLC39A13 TMEM67 TONSL TRAF3IP1 TRAPPC2 TRPV4 XYLT1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES ACVR1 ADAMTSL2 ANAPC1 ASXL2 B3GALT6 B3GLCT BGN BMP2 BMPR1B BPNT2 BRD4 CANT1 CD96 CHST3 CHSY1 COG4 COL11A2 COL2A1 COL9A3 COMP CWC27 DCHS1 DDR2 DLK1 DNMT3A DONSON DYM EIF4A3 EXT1 EXT2 EXTL3 FANCD2 FANCI FAT4 FBN1 FBXL3 FERMT1 FGF16 FGFR1 FIG4 FLNA FLNB FZD2 GDF5 GLI3 GNAS GNAS-AS1 GPX4 HDAC4 HDAC8 HHAT HOXA13 HOXD13 IFT52 IFT80 IHH INPPL1 KCNJ2 KNSTRN LAMA5 LBR LMBR1 LONP1 LTBP3 MAP3K7 MATN3 MEG3 MYSM1 NEPRO NHS NIPBL NOG NPR2 P3H1 PCNT PCYT1A PDE3A PDE4D PEX7 PHYH PIGS PIK3CD PLXND1 POC1A POR PORCN PRKAR1A PRKG2 PRMT7 PTCH1 PTH1R PTHLH RAB33B RAB3GAP2 RAD21 RECQL4 REV3L RIPK4 RMRP RNU4ATAC ROBO1 ROR2 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL4 SETBP1 SHH SHOX SIL1 SLC26A2 SLC39A13 SMARCA2 SMC1A SMC3 SOX9 SRCAP SRY STX16 SVBP TBX3 TGDS TP63 TRIO TRIP11 TRPS1 TWIST2 VAC14 VPS13B VPS35L WNT7A XRCC2 XYLT1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS FLNA LMX1B MAP3K7 RBM8A SALL4 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE ALG9 ALX1 ALX4 ANKRD11 ASXL3 ATP6V1B2 BCR BICRA BRCA1 CENPJ CKAP2L CLP1 COL3A1 CREBBP CRKL CTNNB1 CWC27 DDB1 DDR2 DGCR2 DGCR6 DGCR8 DYRK1A EDA EDEM3 EDN3 EDNRB EIF5A ESCO2 ESS2 EXT2 FGF3 FLNB FRAS1 FREM2 GHR GJA1 GMNN GRIP1 H3-3A HDAC4 HNRNPH2 HNRNPK IARS2 KANSL1 KCNJ6 KMT2D LMBR1 LMNA MADD MAPK1 MGP MITF MTX2 MVK MYH3 MYMX MYO18B NAA10 NALCN NEXMIF NFIX NOG NSUN2 OFD1 ORC4 OTX2 PAX3 PCNT PHF21A PIK3R1 PLEC PPP1CB PPP2R3C PRPS1 PRRX1 PTCH1 PURA PYCR1 RDH11 RECQL RECQL4 RIPK4 RNU4ATAC RSPO2 SCARF2 SCNM1 SIN3A SIX3 SLC37A4 SMARCA2 SMCHD1 SOX10 SOX11 SPATA5 SRCAP STAG2 TAF6 TBX1 TGIF1 TMLHE TONSL TP63 TRIO TRPS1 TWIST1 TWIST2 TXNL4A UBE2A UBR1 USB1 USH1G WNT3 ZMPSTE24 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS ABCC9 AIFM1 B3GALT6 BMPR1B CANT1 CCDC8 CCN6 CEP120 CFAP410 CHD4 CHST3 COL11A2 COL2A1 COMP CPLX1 CTBP1 CTC1 CUL7 DDRGK1 DLK1 ERCC6 ERCC8 EXOC6B FGFR2 FGFR3 FN1 HSPG2 IDUA IFNGR1 IFT140 IHH INPPL1 INTU KAT6B LBR LETM1 MATN3 MBTPS1 MEG3 MMP9 MTX2 NANS NELFA NSD2 NSDHL OBSL1 PEX5 PIGG PIK3C2A POC1A POP1 PORCN PRG4 RAD21 RSPO2 RSPRY1 RTL1 RUNX2 SETBP1 SHOX SLC10A7 SLC26A2 SLC39A13 SMARCAL1 TBX15 TMEM67 TONSL TRAF3IP1 TRAPPC2 TRPV4 WNT3 WNT7A XYLT1 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES AGA ALX1 ALX3 AMER1 ATRX COL11A1 CTSK DNAI1 FLNA FUCA1 NOTCH2 RUNX2 SFRP4 SIX2 SMCHD1 TRIM37 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE ACTA1 ALG9 ATP6V0A2 B3GALNT2 B4GAT1 CAV3 CHRNA1 CHRND CHRNG COL4A1 COLEC11 CRPPA DAG1 FBN2 FKRP FKTN FLNA FLVCR2 GLE1 HACD1 HBB INPP5K ITGA7 LARGE1 LMX1B MAP3K20 MAP3K7 MYL2 MYMK MYMX PIEZO2 PLXND1 PMP22 POMGNT1 POMGNT2 POMK POMT1 POMT2 RBM8A REV3L RXYLT1 SALL4 SCN4A SELENON SIL1 TBX3 TBX5 TPM2 TPM3 TRPV4 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON AARS1 ABCA12 ABCC9 ABCD1 ABCD4 ACAN ACP5 ACTA1 ACTB ACTG1 ACTG2 ACTL6B ACVR1 ADA ADA2 ADAMTS10 ADAMTS2 ADAMTSL2 ADAT3 ADGRG1 ADGRG6 ADNP AEBP1 AFF3 AFF4 AGA AGPS AGRN AHDC1 AIFM1 AKT1 ALDH18A1 ALDH1A2 ALG1 ALG12 ALG13 ALG14 ALG6 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ALX1 ALX3 ALX4 AMER1 AMMECR1 ANAPC1 ANAPC7 ANK1 ANKLE2 ANKRD11 ANTXR1 ANTXR2 AP1G1 APC ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARL6 ARL6IP6 ARSB ARSL ARVCF ARX ASAH1 ASNS ASPH ASXL1 ASXL2 ASXL3 ATAD3A ATP6AP2 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATR ATRIP ATRX AUTS2 B2M B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BANF1 BAZ1B BBS1 BCAP31 BCL11A BCL11B BCL7B BCOR BCR BDNF BGN BHLHA9 BICD2 BICRA BLM BLTP1 BMP2 BMP4 BMPER BMPR1A BMPR1B BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BTRC BUB1 BUB1B BUB3 BUD23 C12orf57 C1R C1S C2CD3 CA2 CACNA1C CACNA2D1 CAMK2A CAMK2G CAMTA1 CANT1 CARS1 CASK CASZ1 CBFB CBL CC2D2A CCBE1 CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCL2 CCN6 CCNQ CD96 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDK10 CDK5 CDKL5 CDKN1C CDT1 CENPE CENPF CENPJ CEP120 CEP152 CEP290 CEP55 CEP57 CERT1 CFAP410 CFL2 CHAT CHD4 CHD5 CHD7 CHD8 CHN1 CHRNA1 CHRND CHRNG CHST11 CHST14 CHST3 CHSY1 CHUK CILK1 CLCF1 CLCN3 CLCN7 CLIP2 CLPB CLTCL1 CNOT2 CNOT3 CNTNAP1 COASY COG1 COG4 COG7 COG8 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COMP COMT COX4I1 COX7B CPE CPLANE1 CPLX1 CREB3L1 CREBBP CRIPT CRKL CRLF1 CRTAP CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTC1 CTDP1 CTNND2 CTSK CTU2 CUL3 CUL4B CUL7 CWC27 D2HGDH DACT1 DCHS1 DCLRE1C DDR2 DDRGK1 DDX3X DEAF1 DHCR24 DHCR7 DHODH DICER1 DIS3L2 DLK1 DLL4 DLX5 DLX6 DMXL2 DNA2 DNAI1 DNAJC21 DNAJC30 DNMT3A DNMT3B DOCK6 DOK7 DONSON DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DSTYK DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A DZIP1L EBP ECEL1 EDA EDA2R EDN1 EDNRA EED EFEMP2 EFNB1 EFTUD2 EIF2AK3 EIF4A3 EIF4H EIF5A ELN EMC1 EMG1 EN1 EOGT EP300 EPG5 EPS15L1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERGIC1 ERMARD ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 EYA1 EZH2 FAM149B1 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBN2 FBXL3 FBXL4 FBXO11 FBXO28 FBXW11 FBXW4 FDFT1 FERMT1 FGD1 FGF10 FGF16 FGF3 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FKBP6 FKRP FKTN FLCN FLI1 FLII FLNA FLNB FLVCR2 FMR1 FN1 FOCAD FOXC2 FOXF1 FOXG1 FRA10AC1 FRAS1 FTSJ1 FUCA1 FUT8 FUZ FZD2 GABBR2 GABRA3 GABRD GAD1 GALNS GALNT2 GATA1 GATA4 GATAD2B GBA1 GDF11 GDF5 GEMIN4 GGCX GHR GJA1 GJA5 GJA8 GJB2 GJB6 GLB1 GLDN GLE1 GLI1 GLI3 GLUL GMNN GNA11 GNAI3 GNAO1 GNAS GNAS-AS1 GNB2 GNPAT GNPTAB GNS GOLGA2 GON7 GP1BB GPC3 GPC4 GPC6 GPKOW GPX4 GRB10 GRIN1 GRIP1 GRM7 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H4C3 H4C9 HAAO HACD1 HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HEATR3 HECTD4 HELLS HEPHL1 HERC2 HES7 HESX1 HHAT HINT1 HIRA HMGA2 HMX1 HNRNPH2 HNRNPR HNRNPU HOXA13 HOXB1 HOXD13 HPGD HRAS HSD17B4 HSPG2 HTT HUWE1 HYLS1 HYMAI HYOU1 IARS2 IDH1 IDH2 IDUA IFNGR1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IGF1 IGF1R IGF2 IGFALS IHH IKBKG IL2RG IL6ST IL7R INPP5K INPPL1 INTS1 INTU IPO8 IQCE IQSEC2 IRF6 IRX5 ITGA7 JAG1 JMJD1C KAT6A KAT6B KATNB1 KBTBD13 KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KDM1A KDM4B KDM5C KDM6A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF21A KIF22 KIF26A KIF5C KIF7 KIFBP KLHL15 KLHL41 KMT2A KMT2D KNL1 KNSTRN KPTN KRAS KYNU LAGE3 LAMA5 LARGE1 LAS1L LBR LEMD2 LEMD3 LETM1 LFNG LGI4 LHX3 LHX4 LIFR LIG4 LIMK1 LMBR1 LMBRD2 LMNA LMNB2 LMOD3 LMX1B LONP1 LRP2 LRP4 LRPPRC LRRC32 LTBP2 LTBP3 LTBP4 LUZP1 LZTFL1 LZTR1 MAB21L2 MACROH2A1 MAD1L1 MAD2L2 MADD MAFB MAGEL2 MAN2C1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MASP1 MATN3 MBD5 MBTPS1 MBTPS2 MCM5 MCTP2 MECOM MECP2 MED12 MEG3 MEGF8 MEIS2 MET METTL27 MGP MIA3 MID1 MINPP1 MIPEP MIR140 MIR17HG MITF MKRN3 MKS1 MLXIPL MMP13 MMP2 MMP23B MMP9 MNX1 MPLKIP MRAS MRPS28 MSL3 MSTO1 MSX2 MTFMT MTHFS MTOR MTX2 MUSK MYBPC1 MYCN MYF5 MYH3 MYH7 MYH8 MYL2 MYMK MYMX MYO18B MYO9A MYOD1 MYPN MYSM1 NAA10 NALCN NANS NBAS NBN NCAPG2 NCF1 NDE1 NDN NDUFB11 NEB NECTIN1 NEDD4L NEK1 NEK9 NELFA NEPRO NEUROD2 NF1 NFASC NFIX NGLY1 NHS NIN NIPBL NKX2-6 NKX3-2 NODAL NOG NOTCH1 NOTCH2 NOTCH3 NPAP1 NPR2 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE2 NSUN2 NTNG1 NUP107 NUP133 NUP85 NUP88 NXN OBSL1 OCA2 OCLN OCRL OFD1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTX2 P3H1 P4HB PAH PAICS PAK2 PALB2 PAM16 PAPSS2 PAX1 PAX6 PAX7 PCGF2 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDHA1 PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM1 PHF21A PHF6 PHGDH PHIP PHOX2A PHYH PI4KA PIEZO1 PIEZO2 PIGA PIGB PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PITX1 PKDCC PKHD1 PLA2G6 PLAA PLAG1 PLAGL1 PLCB3 PLCB4 PLK4 PLVAP PLXND1 PNKP POC1A POGZ POLA1 POLD1 POLE POLR1A POLR1B POLR1C POLR1D POLR3A POMGNT1 POMT1 POMT2 POP1 POR PORCN POU1F1 PPIB PPM1D PPP1R12A PPP1R15B PPP2R3C PPP3CA PQBP1 PRDM13 PRDM16 PRG4 PRIM1 PRKACA PRKACB PRKAR1A PRKCZ PRKG2 PRMT7 PROP1 PRORP PRRX1 PRUNE1 PSAT1 PSMB8 PSMC1 PSMD12 PSPH PTCH1 PTDSS1 PTEN PTH1R PTHLH PTPN11 PUF60 PUM1 PURA PUS1 PUS7 PWAR1 PWRN1 PYROXD1 RAB18 RAB23 RAB33B RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RBPJ RDH11 RECQL4 RELN RERE REV3L RFC2 RFT1 RFWD3 RHOBTB2 RIN2 RINT1 RIPK4 RIT1 RLIM RMRP RNF113A RNF2 RNU12 RNU4ATAC ROBO1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUNX2 RYR3 SALL1 SALL4 SATB1 SATB2 SC5D SCARF2 SCN1B SCN2A SCN4A SCUBE3 SCYL2 SEC24C SEC24D SEC31A SELENON SEM1 SEMA5A SERPINH1 SETBP1 SETD2 SETD5 SF3B2 SF3B4 SFRP4 SH2B1 SH3PXD2B SHANK3 SHH SHOX SIK1 SIK3 SIL1 SIM1 SIN3A SIX1 SIX2 SIX6 SKI SLC10A7 SLC18A3 SLC25A1 SLC25A19 SLC25A22 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC31A1 SLC32A1 SLC35A2 SLC35A3 SLC35B2 SLC35C1 SLC35D1 SLC37A4 SLC39A13 SLC39A8 SLC5A7 SLC6A17 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMCHD1 SMG8 SMO SMOC1 SNAP25 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOS1 SOS2 SOX11 SOX2 SOX4 SOX6 SOX9 SP7 SPART SPATA5L1 SPECC1L SPEG SPEN SPOP SPRED1 SPRED2 SPRTN SRCAP SRPX2 SRY SSR4 STAC3 STAG1 STAG2 STAMBP STRA6 STX16 STX1A STXBP1 SUCLG1 SUMF1 SUPT16H SUZ12 SVBP SYT2 TAB2 TAF1 TAPT1 TARS1 TASP1 TBC1D20 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX15 TBX22 TBX3 TBX4 TBX5 TBX6 TBXT TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TELO2 TENT5A TFAP2A TFAP2B TGDS TGFB1 TGFBR1 TGFBR2 THOC6 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM70 TNFRSF11A TNFRSF11B TNNI2 TNNT3 TNRC6B TOE1 TONSL TOPORS TOR1A TP53RK TP63 TPM2 TPM3 TPR TPRKB TRAF3IP1 TRAIP TRAPPC2 TRIM37 TRIM8 TRIO TRIP11 TRIP13 TRIP4 TRMT10A TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSEN54 TSR2 TTC21B TTN TUBA1A TUBB TUBB2B TUBB3 TWIST1 TWIST2 TXNDC15 TXNL4A UBA1 UBE2A UBE2T UBE3B UBE4B UBR7 UFD1 UNC80 UPF3B USB1 USP7 USP9X VAC14 VAMP1 VANGL1 VANGL2 VARS1 VPS13B VPS33B VPS35L VPS37D VPS53 WAC WASF1 WASHC5 WDR11 WDR19 WDR26 WDR35 WDR4 WDR62 WDR73 WDR81 WIPI2 WLS WNT10B WNT3 WNT5A WNT7A WRN WT1 XRCC2 XRCC4 XYLT1 YARS1 YARS2 YRDC YY1 YY1AP1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF292 ZNF335 ZNF341 ZNF407 ZNF668 ZNF699 ZSWIM6 HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN ACVR1 AIFM1 ARSB ARSL BGN CCL2 CLCN3 COG4 COL11A1 COL2A1 COMP CSPP1 DDR2 DDRGK1 DYM EBP EIF2AK3 EXTL3 FANCB FANCL FGD1 FLNB FN1 FUCA1 FUZ GALNS GLB1 GNPTAB GNS GUSB HAAO IARS2 IDUA INPPL1 KIAA0586 LBR LFNG LONP1 MNX1 NFIX NODAL NOG NOTCH2 NSDHL POC1A POGZ POLR3A PRKAR1A PTH1R RAB33B RINT1 RMRP ROR2 RPS19 SF3B2 SIX6 SLC26A2 SLC29A3 SLC35B2 SLC35D1 SOX2 SOX9 SUMF1 TBXT TCIRG1 TNFRSF11A TP63 TRAPPC2 TRIP11 TRPV4 VANGL1 VANGL2 WNT7A ZIC3 HP_APLASIA_HYPOPLASIA_OF_FACIAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FACIAL_BONES ALX1 BAZ1B BCL7B BRAF BUD23 CEP120 CHD7 CLIP2 CNOT1 COL11A1 DNAJC30 DYM EDA EIF4H ELN FGFR1 FGFR2 FIG4 FKBP6 GLI2 GTF2I GTF2IRD1 GTF2IRD2 KRAS LIMK1 LMNA MAP2K1 MAP2K2 METTL27 MLXIPL MTHFR NBAS NCF1 NECTIN1 NOTCH2 OFD1 PEPD POLR1B POLR1C POLR1D POLR3A PTCH1 RFC2 RUNX2 SEMA3E SF3B2 SF3B4 SIX3 SMOC1 STX1A TBL2 TCOF1 TMEM270 TWIST2 VANGL2 VPS13B VPS37D HP_APLASIA_HYPOPLASIA_OF_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FINGERS ABCA12 ABCC9 ACAN ACP5 ACTL6B ACVR1 ADA2 ADAMTS10 AIFM1 ALG6 ALMS1 ALOX12B ALOXE3 AP1G1 APC ARHGAP31 ARID1A ARID1B ARID2 ARSL ARX ASAH1 ASPH ATP6V1B2 BCOR BCR BHLHA9 BICRA BMP2 BMP4 BMPR1B BRCA1 BRCA2 BRD4 BRF1 BRIP1 CANT1 CASK CBFB CCDC22 CDC42BPB CDKL5 CDKN1C CEP152 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST11 CHST3 CLCN7 CNOT2 COG4 COL10A1 COL25A1 COL2A1 COMP COX4I1 CPLX1 CREBBP CRIPT CRKL CTBP1 CTSK CUL3 CUL7 CWC27 DDR2 DHCR7 DHODH DLK1 DLL4 DLX5 DMXL2 DOCK6 DONSON DPF2 DVL1 DYNC2LI1 EDA EDA2R EIF2AK3 EIF4A3 EN1 EOGT EP300 ERCC4 ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGD1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FLNB FN1 FRAS1 FTSJ1 FZD2 GATA1 GDF5 GGCX GJA1 GJA5 GJA8 GLI1 GMNN GNAO1 GNAS GNB2 GPC3 GPC4 GPX4 GRIN1 GRM7 HDAC8 HEATR3 HESX1 HMGA2 HNRNPR HOXA13 HOXD13 IFT122 IFT140 IFT43 IFT52 IFT57 IGF1R IGF2 IHH INTU IRX5 JAG1 KCNA1 KCNH1 KCNJ2 KCNJ8 KCNN3 KDM1A KDM5C KDM6A KIF15 KIF21A KMT2A KMT2D KNSTRN LAMA5 LBR LETM1 LHX3 LHX4 LIG4 LMBR1 LMNA LMNB2 LRP4 LTBP2 MAD2L2 MAFB MAP3K7 MAPK1 MAPK8IP3 MASP1 MBD5 MCTP2 MECOM MED12 MEG3 MEGF8 MEIS2 MGP MIR17HG MTOR MYCN NEK1 NELFA NEPRO NEUROD2 NFIX NIN NIPBL NOG NOTCH1 NOTCH2 NSD2 NSDHL NSUN2 NXN OBSL1 OFD1 PALB2 PCNT PCYT1A PDE4D PDGFRB PGAP2 PGAP3 PHF6 PHOX2A PIGB PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3C2A PIK3CD PKDCC PLAG1 PLXND1 PNKP POC1A POLA1 POR PORCN POU1F1 PRKACA PRKACB PRKG2 PRMT7 PROP1 PSMD12 PTCH1 PTH1R PTHLH PUF60 RAC1 RAD21 RAD51 RAD51C RB1 RBBP8 RBM8A RBPJ RECQL4 REV3L RFWD3 RIPK4 RMRP RNU4ATAC ROBO1 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RSPO2 RTL1 RUNX2 RYR3 SALL4 SCN1B SCN2A SETBP1 SF3B4 SHH SIK1 SIN3A SLC25A22 SLC25A24 SLC26A2 SLC32A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SON SOX11 SOX4 SOX9 SRCAP STAMBP SVBP TBC1D24 TBL1XR1 TBX3 TBX5 TCTN3 TFAP2A TFAP2B TP63 TRIM8 TRIO TRPM3 TRPS1 TRPV4 TSR2 TUBA1A TUBB2B TUBB3 TWIST1 UBE2T VAC14 VPS35L WDR19 WDR35 WIPI2 WNT10B WNT5A WNT7A XRCC2 ZBTB20 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699 HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES B3GLCT BMPR1B CANT1 CDC42BPB CHSY1 COG4 COL2A1 DCHS1 DYM EP300 EZH2 FAT4 FBN1 FGFR1 FGFR2 FIG4 FLNA FLNB GDF5 GNAS HDAC4 HEPHL1 HINT1 HOXA13 HOXD13 IFT140 IFT52 IQCE KCNJ2 KNSTRN LMBR1 LZTFL1 MAP3K7 NPR2 PDE4D PEX7 PHYH PIGS PIK3CD POC1A PORCN PRKAR1A PRKG2 PRMT7 PTHLH RAB33B RBPJ RIPK4 RSPRY1 SALL1 SIL1 SLC26A2 SMARCA2 SRY TCF4 TP63 TRPS1 TRPV4 TWIST1 VPS13B VPS35L WNT7A ZNF407 HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL ACVR1 BMPR1B BRD4 CANT1 DLK1 FANCD2 FANCI FIG4 FZD2 GDF5 HDAC8 HOXA13 LAMA5 LMBR1 MEG3 NIPBL NOG PCNT RAD21 ROBO1 RTL1 SALL4 SETBP1 SHH SMC1A SMC3 SOX9 SRCAP TRIO VAC14 VPS35L XRCC2 HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER BMP2 BMPR1B COL2A1 FIG4 GDF5 GPC3 GPC4 HOXD13 IFT140 INTU IRX5 KIF15 MEIS2 MYCN NSDHL RUNX2 SRCAP HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL BMP2 BMPR1B GDF5 GLI3 RUNX2 HP_APLASIA_HYPOPLASIA_OF_THE_3RD_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_3RD_FINGER COL2A1 EN1 GDF5 GNAS NSDHL TBX3 HP_APLASIA_HYPOPLASIA_OF_THE_3RD_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_3RD_METACARPAL FLNA GNAS LBR SVBP TBX3 HP_APLASIA_HYPOPLASIA_OF_THE_4TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_FINGER COL2A1 GDF5 MECOM NOG TBX3 HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL DCHS1 FAT4 FBXL3 FERMT1 FLNA GLI3 GNAS LBR PIGS PORCN PRKG2 PTCH1 SHOX SRY SVBP TBX3 HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER ARID1A ARID1B ARID2 ATP6V1B2 BMP2 BMPR1B CDKN1C CNOT2 COL2A1 COX4I1 CUL7 DPF2 DVL1 EIF4A3 FGD1 GATA1 GDF5 GJA1 GNAS GNB2 HMGA2 HNRNPR HOXA13 HOXD13 IFT140 IGF2 KDM6A KIF15 KMT2A KMT2D MAPK8IP3 MASP1 MEIS2 MYCN NIN NOG OBSL1 PIK3C2A PKDCC PLAG1 PUF60 RAC1 RBBP8 ROR2 RUNX2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SOX11 SOX4 SRCAP TBC1D24 TBX3 TFAP2B WNT5A WNT7A ZMYM2 HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL BMP2 COL11A2 FERMT1 FGF16 FLNA GNAS HOXD13 LBR NOG PRKG2 RUNX2 SRCAP SVBP TBX3 HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE ACTG2 ATP7A BRAF CANT1 CBL CD96 CHRM3 CHRNG COL3A1 COLEC11 CSGALNACT1 DIS3L2 FBN1 FLNB GPC3 GPC4 KRAS LZTR1 MANBA MCOLN1 MRAS MYH3 NRAS PTPN11 RAF1 RASA2 RIT1 RMRP RRAS RRAS2 SKI SLC25A24 SOS1 SOS2 SPRED2 XYLT1 HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER ALG9 CC2D2A CCNQ FREM2 GRIP1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 MBTPS2 MED12 MKS1 PLEC ROBO1 WNT4 HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS ACTB ANOS1 ANTXR1 BMP15 BNC1 CCDC141 CDC45 CDC6 CDT1 CHD7 DCC DUSP6 DYRK1A EFNB1 ESR1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FOXA2 FSHB FSHR GLI2 GMNN GNRH1 GNRHR HESX1 HS6ST1 IKBKG IL17RD KCTD1 KISS1 KISS1R LHX4 LMNA MAF MRPS22 MSH4 NDNF NHLH2 NIN NR5A1 NSMF NUP107 ORC1 ORC4 ORC6 OTX2 PLXND1 POC1A POLR3H POU1F1 PROK2 PROKR2 PROP1 PSMC3IP REV3L SEMA3A SOX10 SOX3 SPIDR SPRY4 TAC3 TACR3 TBX3 TP63 TWIST2 USP9X WDR11 YY1 ZSWIM7 HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS ADAMTSL2 CANT1 CDC6 CHST3 COG1 COL11A2 COL2A1 COMP DYM EXTL3 GLB1 HS2ST1 IFT140 KIF22 MATN3 PIK3C2A PLOD3 SMARCAL1 TRAPPC2 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS ACY1 ADGRG1 AFF3 AHI1 AIPL1 ALG3 ALX4 AP1S2 APC2 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ASNS ASXL1 ASXL3 ATN1 ATP2B3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP9A ATR B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BICD2 BLTP1 BMP4 BRF1 BUB1 BUB1B BUB3 C2CD3 CBY1 CC2D2A CCDC22 CCDC32 CDC42 CDC42BPB CDKN1C CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP57 CHD7 COG1 COL4A1 CPLANE1 CPSF3 CPT2 CRB1 CRPPA CRX CSF1R CSPP1 CWF19L1 DAG1 DCHS1 DDX3X DENND5A DHCR7 DOK7 DPF2 DPH1 DPH2 DPH5 DPYSL5 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP EPG5 ESCO2 EVC EVC2 EXOC2 EXOSC8 FAM149B1 FAR1 FAT4 FDXR FGFR1 FIG4 FKRP FKTN FLVCR2 FOXC1 FRMD4A FTO GDF6 GEMIN4 GJB2 GJB6 GLI3 GMPPB GOT2 GPC3 GPC4 GRIA3 GRM1 GTPBP2 GUCY2D H3-3A HHAT HNRNPH1 HNRNPR HRAS HYLS1 IFT140 IFT172 IFT74 IFT80 IGF2 IMPDH1 INPP5E INTS1 IQCB1 ITPR1 KATNIP KCNJ13 KCNQ1 KCNQ1OT1 KIAA0586 KIAA0753 KIF14 KIF21A KIF5A KIF7 KNL1 KPNA3 KRAS L1CAM LAMA1 LAMB1 LARGE1 LCA5 LETM1 LNPK LRAT LRPPRC LRRC32 MAB21L1 MACF1 MAN2C1 MAPKAPK5 MAST1 MBD5 MDH1 MED11 MEF2C MID1 MKS1 MPL MRE11 MTM1 MUSK MVK MYOD1 NCAPG2 NEK1 NMNAT1 NPHP1 NPHP3 NRAS NSD1 NSRP1 NUP37 NUP88 OFD1 OPHN1 PACS1 PACS2 PAFAH1B1 PCGF2 PCYT1A PDE6D PGAP1 PGAP2 PHGDH PI4KA PIBF1 PIEZO2 PIGN PIGU PLCH1 PLG PMM2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1CB PPP1R21 PRDM13 PRKDC PSAT1 PTEN PTF1A RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAPSN RARS2 RBM10 RBM8A RD3 RDH12 RERE RFX7 RNF113A RNU4ATAC ROBO1 RPE65 RPGRIP1 RPGRIP1L RXYLT1 SACS SASS6 SEMA3E SEMA6B SEPSECS SETD2 SLC18A3 SLC25A19 SLC25A24 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 SPATA7 SRD5A3 SRPX2 SUFU SYT2 TAF1 TBC1D20 TBC1D24 TBCK TCTN1 TCTN2 TCTN3 TFAP2A THG1L THOC2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TRAPPC9 TRIP13 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBB4B TULP1 TXNDC15 USP45 USP9X VLDLR VPS35L VPS4A VPS51 WARS2 WASHC5 WDR35 WDR73 WDR81 WLS ZEB2 ZIC1 ZNF423 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM ABAT ACD ACY1 ADGRG1 ADGRV1 AFF3 AFG3L2 AGTPBP1 AHCY AHI1 AIPL1 ALG12 ALG3 ALG6 ALX4 AMPD2 AP1S2 APC2 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSI ASNS ASPM ASXL1 ASXL3 ATAD3A ATCAY ATG5 ATG7 ATN1 ATP2B3 ATP5F1A ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP9A ATR ATXN2 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BICD2 BLTP1 BMP4 BRD4 BRF1 BUB1 BUB1B BUB3 C2CD3 CACNA1G CAMSAP1 CAMTA1 CARS2 CASK CBY1 CC2D2A CCDC22 CCDC32 CCDC47 CDC40 CDC42 CDC42BPB CDH23 CDK5 CDKN1C CENPE CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP55 CEP57 CEP85L CHD7 CHMP1A CIB2 CILK1 CIT CLCN3 COASY COG1 COL3A1 COL4A1 COQ4 CPLANE1 CPLX1 CPSF3 CPT2 CRB1 CRPPA CRX CSF1R CSPP1 CTBP1 CTNNA2 CWF19L1 DAG1 DCHS1 DDX3X DENND5A DHCR7 DHFR DHX37 DISC1 DKC1 DMXL2 DOCK6 DOK7 DPAGT1 DPF2 DPH1 DPH2 DPH5 DPM2 DPYSL5 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP EHMT1 ELN EN1 EOMES EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERF ERMARD ESCO2 ESPN EVC EVC2 EXOC2 EXOC7 EXOSC1 EXOSC2 EXOSC3 EXOSC8 EXOSC9 EZH2 FAM149B1 FANCB FANCL FAR1 FAT4 FDXR FGFR1 FGFR2 FGFR3 FIG4 FKRP FKTN FLNA FLVCR2 FOXC1 FRMD4A FTO GDF6 GEMIN4 GFM2 GJA1 GJB2 GJB6 GLI3 GMPPB GOT2 GPAA1 GPC3 GPC4 GPHN GPKOW GPSM2 GPX4 GRIA3 GRM1 GTPBP2 GUCY2D H3-3A HDAC6 HDAC8 HERC1 HESX1 HHAT HNRNPH1 HNRNPH2 HNRNPR HRAS HYLS1 IER3IP1 IFT140 IFT172 IFT74 IFT80 IGF2 IMPDH1 INPP5E INPP5K INTS1 INTS8 IQCB1 ITPR1 JAM3 KARS1 KATNIP KCNJ13 KCNQ1 KCNQ1OT1 KIAA0586 KIAA0753 KIDINS220 KIF14 KIF21A KIF5A KIF7 KMT2C KNL1 KPNA3 KRAS L1CAM L2HGDH LAMA1 LAMB1 LARGE1 LCA5 LETM1 LMNB1 LNPK LRAT LRPPRC LRRC32 MAB21L1 MACF1 MAN1B1 MAN2C1 MAP2K2 MAPK8IP3 MAPKAPK5 MARS2 MAST1 MBD5 MBTPS2 MDH1 MED11 MEF2C MFSD2A MGAT2 MICOS13 MID1 MINPP1 MKS1 MLXIPL MPL MRE11 MSTO1 MT-TE MT-TK MT-TL1 MTHFR MTM1 MUSK MVK MYMK MYMX MYO5A MYO7A MYOD1 NAGA NCAPG2 NDE1 NDP NDUFA6 NEK1 NELFA NFIX NIPBL NMNAT1 NODAL NONO NPHP1 NPHP3 NRAS NSD1 NSD2 NSRP1 NUP37 NUP88 OCLN OFD1 OPHN1 OTUD5 OTX2 OXR1 PACS1 PACS2 PAFAH1B1 PARN PCDH15 PCGF2 PCLO PCYT1A PDE6D PDHB PDZD7 PEX2 PGAP1 PGAP2 PHGDH PI4KA PIBF1 PIEZO2 PIGA PIGG PIGN PIGT PIGU PIK3CA PLCH1 PLG PLK4 PLP1 PMM2 PMPCA POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POU4F1 PPFIBP1 PPIL1 PPP1CB PPP1R15B PPP1R21 PPP2R1A PRDM13 PRKDC PROKR2 PRRX1 PSAT1 PTEN PTF1A PTRH2 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAPSN RARS2 RBBP8 RBM10 RBM8A RD3 RDH12 RELN RERE RFX7 RHOBTB2 RNF113A RNU12 RNU4ATAC ROBO1 ROBO3 ROGDI RORA RPE65 RPGRIP1 RPGRIP1L RPL10 RPS6KA3 RTEL1 RTTN RXYLT1 SACS SAMD9L SASS6 SEMA3E SEMA6B SEPSECS SETD2 SHQ1 SIL1 SIX3 SLC18A3 SLC1A3 SLC25A1 SLC25A19 SLC25A24 SLC25A46 SLC35A2 SLC9A6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMPD4 SNX14 SON SOX11 SOX2 SOX3 SOX4 SPATA7 SPTBN2 SRD5A3 SRPX2 STAG2 STAT2 STUB1 SUFU SUOX SYT2 TAF1 TAPT1 TBC1D20 TBC1D23 TBC1D24 TBCK TCTN1 TCTN2 TCTN3 TERC TERT TFAP2A THG1L THOC2 TINF2 TKFC TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TMTC3 TNPO2 TOE1 TOGARAM1 TOPORS TP53RK TRAPPC12 TRAPPC9 TRIP13 TRMT10A TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBB4B TUBGCP4 TUBGCP6 TULP1 TWIST1 TXNDC15 UBE3C UFC1 UFSP2 USH1C USH1G USH2A USP18 USP45 USP9X VAC14 VANGL2 VARS2 VLDLR VPS13B VPS35L VPS4A VPS51 VRK1 WAC WARS2 WASHC5 WDR26 WDR35 WDR73 WDR81 WHRN WLS WNT1 YME1L1 ZBTB11 ZEB2 ZIC1 ZIC3 ZNF292 ZNF335 ZNF423 ZNF592 HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER FDXR KDM1A MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NACC1 NARS1 PSAT1 SLC2A1 STRADA TMX2 WARS2 ZEB2 HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES ALX4 ATP7A B4GALT7 BCOR BGN BMPR1A CBFB CDC42BPB CDC45 CDC6 CDT1 CHD4 CTSK DCHS1 DYNC2LI1 EFNB1 FAT4 FBXL3 FGFR2 FIG4 FLNA GMNN HOXD13 IDUA KIAA0586 LEMD2 LMNA MSX2 NAA10 NSDHL ORC1 ORC4 ORC6 PIGL PORCN PTDSS1 PTEN PTH1R RNU12 RNU4ATAC RSPO2 RUNX2 SALL4 SCARF2 SRCAP TBX3 TBX5 TRIP11 TWIST1 VAC14 WNT7A XYLT1 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_CLITORIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CLITORIS B3GLCT CDC45 CDC6 CDT1 DVL1 DVL3 FZD2 GMNN HERC2 MAGEL2 MKRN3 NDN NPAP1 OCA2 ORC1 ORC4 ORC6 POC1A PORCN PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 ROR2 SIM1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 WNT5A HP_APLASIA_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM AARS1 ABAT ACER3 ACO2 ACTB ACTG1 ACTL6B ACY1 ADAR ADARB1 ADAT3 ADNP AHCY AHDC1 AHI1 AIFM1 AIMP2 AKT3 ALDH6A1 ALDH7A1 ALG12 ALG2 ALG3 ALG8 ALX1 ALX3 ALX4 AMER1 AMPD2 AMT ANKLE2 ANKRD11 AP1G1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSI ARX ASNS ASPM ASXL1 ASXL3 ATL1 ATN1 ATP13A2 ATP6AP2 ATP6V1A ATP9A ATRX B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCL11B BCOR BICD2 BLTP1 BMP4 BRAF BRAT1 BRF1 BUB1 BUB1B BUB3 C12orf57 C2CD3 CACNA1I CACNA2D1 CAMSAP1 CARS1 CARS2 CASK CASZ1 CBY1 CC2D2A CCDC174 CCDC88A CD96 CDC40 CDC42 CDC42BPB CDH2 CDK10 CDK13 CDK5 CDK5RAP2 CDK6 CDK8 CDKL5 CDON CENPE CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP290 CEP41 CEP57 CEP63 CFC1 CHMP1A CILK1 CIT CLCN3 CLCN4 CLP1 CNOT1 CNOT3 CNP CNTNAP1 COASY COG2 COG4 COG6 COG7 COL4A1 COPB2 COX7B CPLANE1 CPLX1 CPT2 CREBBP CRIPT CRPPA CSF1R CSPP1 CTBP1 CTNNA2 CTNNB1 CTU2 CUL4B CWF19L1 CYP11A1 CYP2U1 DACT1 DAG1 DARS1 DARS2 DCC DCHS1 DCX DDHD2 DDX3X DDX59 DDX6 DEAF1 DHCR24 DHCR7 DHX16 DIAPH1 DIS3L2 DISC1 DISP1 DLL1 DMXL2 DNAL4 DNM1 DOCK7 DONSON DPAGT1 DPF2 DPH1 DPH2 DPYD DPYSL5 DYNC1H1 DYNC1I2 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EARS2 EBP EFNB1 EHMT1 EIF2AK2 EIF2S3 EMC1 EML1 EMX2 EOMES EP300 EPG5 EPRS1 ERCC2 ERCC3 ERCC5 ERCC6 ERLIN2 ERMARD EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC8 EXTL3 FA2H FAM149B1 FANCB FANCD2 FANCI FAT4 FBXL4 FBXW11 FCSK FDFT1 FDXR FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLVCR2 FOXA2 FOXG1 FOXH1 FRA10AC1 FRMD4A FRMPD4 GABRA5 GABRB1 GABRD GAD1 GAS1 GBA1 GBA2 GDF1 GET4 GFER GFM1 GFM2 GGT1 GJC2 GLDC GLI2 GLI3 GLRX5 GLUL GLYCTK GMPPB GNAO1 GOT2 GPC3 GPC4 GPKOW GPSM2 GPT2 GPX4 GRIA3 GRIA4 GRIN1 GRIN2A GRM7 GTF2E2 GTF2H5 GTPBP2 H3-3A HACE1 HCCS HECTD4 HESX1 HIBCH HIC1 HIVEP2 HK1 HNRNPK HNRNPR HNRNPU HPDL HRAS HS2ST1 HSD17B4 HSPA9 HSPG2 HTRA2 HUWE1 HYLS1 IBA57 IER3IP1 IFIH1 IFT140 IFT27 IFT52 IFT74 IFT80 IGBP1 IGF1R INPP5E IQSEC2 KANSL1 KAT5 KAT6B KAT8 KATNB1 KATNIP KCNA1 KCNAB2 KCNK4 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM4B KDM5B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF15 KIF26A KIF2A KIF5A KIF5C KIF7 KIFBP KMT2C KNL1 KRAS L1CAM LAMB1 LARGE1 LETM1 LHX3 LHX4 LIG4 LMBR1 LMNB1 LMNB2 LNPK LONP1 LRP2 LRPPRC LRRC32 LSM11 LSS LUZP1 MACF1 MAF MAN2C1 MAP1B MAPK8IP3 MAPKAPK5 MAPRE2 MBTPS2 MCM7 MCPH1 MDH1 MED12 MED12L MED25 MEF2C METTL5 MFSD2A MID1 MINPP1 MKS1 MLH1 MMP23B MOCS1 MOCS2 MOGS MPDZ MPLKIP MRPS16 MRPS22 MRPS25 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTHFS MTOR MTRFR NAA10 NADK2 NAE1 NALCN NANS NARS1 NARS2 NCAPD3 NDE1 NDUFA2 NDUFAF5 NDUFB11 NEDD4L NELFA NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NHLRC2 NKX2-1 NKX6-2 NMNAT1 NODAL NONO NOVA2 NPHP1 NR2F1 NRAS NRROS NSD1 NSD2 NSUN2 NT5C2 NTN1 NUP188 NUP37 OCA2 OFD1 OGDHL OSGEP OSTM1 OTUD5 OTUD6B OTX2 PAFAH1B1 PAH PARS2 PAX6 PCGF2 PCLO PCNT PDE6D PDHA1 PDHB PDHX PDPN PDYN PEX1 PEX2 PGAP1 PGAP2 PHC1 PHGDH PIBF1 PIEZO2 PIGA PIGB PIGG PIGN PIGP PIGQ PIGU PIK3R2 PITX1 PLAA PLCH1 PLK4 PLPBP PLXNA1 PMS2 PNKP POGZ POLG2 POLR1C POLR2A POLR3A POLR3B POLR3GL POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 POU3F3 PPFIBP1 PPIL1 PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R1A PPP2R3C PRDM16 PRKCZ PRKDC PRMT7 PROKR2 PROP1 PRPS1 PRRX1 PRUNE1 PSAP PSAT1 PTCH1 PTDSS1 PTPN23 PUF60 PUS3 PYCR1 PYCR2 QARS1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD51 RAI1 RALGAPA1 RARS1 RB1 RECQL4 RELN REPS1 RERE RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNU4ATAC RNU7-1 ROBO1 RORA RPGRIP1 RPGRIP1L RPS6KA3 RSPO2 RSPRY1 RTTN RUSC2 RXYLT1 SACS SALL1 SAMHD1 SARS1 SASS6 SCN1B SCN2A SCN3A SCYL2 SEC31A SEPSECS SETBP1 SETD2 SF3B2 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIK1 SIN3A SIX3 SIX6 SKI SLC12A2 SLC12A6 SLC1A2 SLC1A4 SLC25A1 SLC25A10 SLC25A19 SLC25A22 SLC25A24 SLC30A9 SLC32A1 SLC35A2 SLC35B2 SLC5A6 SLC6A8 SLC6A9 SLC9A6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMG9 SMO SNIP1 SON SOX11 SOX2 SOX3 SOX4 SPATA5 SPATA5L1 SPEN SPG11 SPG21 SPTAN1 SRPX2 SSR4 STAG2 STAMBP STIL STXBP1 SUFU SUPT16H SUZ12 SVBP TAF1 TAF13 TAF2 TARS1 TARS2 TBC1D20 TBC1D23 TBCD TBCE TBCK TCF12 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TGFB1 TGIF1 THUMPD1 TMCO1 TMEM106B TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM67 TMEM70 TMTC3 TMX2 TNR TOE1 TOGARAM1 TOPORS TP73 TRAPPC10 TRAPPC12 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIP13 TRMT10A TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTC5 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBGCP2 TXNDC15 TYROBP UBA5 UBE3A UBE3B UBE4B UBTF UGP2 UNC80 UPF3B USP7 USP9X VAC14 VAMP2 VANGL2 VARS1 VARS2 VAX1 VPS11 VPS50 VPS51 VPS53 VWA3B WAC WARS1 WDR26 WDR35 WDR4 WDR45B WDR62 WDR73 WDR81 WLS WNT3 WT1 WWOX YARS1 YIF1B YWHAE YY1 ZBTB18 ZBTB20 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZMIZ1 ZNF148 ZNF335 ZNF423 ZNF462 ZNF699 ZNHIT3 ZSWIM6 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND ABCC9 ACP5 ACTL6B ALG6 ARHGAP31 ARID1A ARID1B ARSL ATP6V1B2 BCR BMPR1B BRF1 CBFB CCDC22 CHST11 CHST3 CHUK CLCN7 COG4 COL10A1 COL2A1 COMP CRIPT CRKL CWC27 DLL4 DOCK6 DVL1 DYNC2LI1 EDA EDA2R EOGT EVC EVC2 FIG4 FLNA FLNB FN1 FTSJ1 GDF5 GGCX GJA5 GJA8 GLI1 GNAS GPC3 GPC4 HNRNPR HOXA13 HOXD13 IFT122 IFT43 IFT52 IFT57 IGF2 IHH JAG1 KCNH1 KCNJ8 KCNN3 KDM5C KNSTRN LBR LMNA MAP3K7 MAPK1 MCTP2 MGP MTOR NFIX NOG NOTCH1 NOTCH2 NSDHL NXN PCNT PDGFRB PGAP2 PGAP3 PHF6 PIGB PIGF PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3CD POC1A POR PRKACA PRKACB PRMT7 PTCH1 PTHLH RBPJ ROR2 RPS6KA3 SALL4 SETBP1 SLC25A24 SMARCA2 SMARCB1 SMARCE1 SOX11 STAMBP TBC1D24 TBX3 TGFBR2 TRPS1 TRPV4 TWIST1 VAC14 VPS35L WDR19 WDR35 ZBTB20 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES ARID1B ARSL EOGT FIG4 GPC4 HOXD13 KCNH1 KCNN3 MAP3K20 NOG PIGF PTHLH RIPK4 ROR2 TRPV4 VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX FIG4 HOXD13 MAP3K20 PTHLH VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EAR ABHD5 ADA2 ADNP AGA AMER1 ATRX B3GAT3 B3GLCT BMP2 BPTF CAMK2A CASZ1 CD96 CDC45 CDC6 CDT1 CENPJ CHD5 CHD7 CHST3 CNOT1 COG1 CPLX1 CRPPA CTBP1 DACT1 DCHS1 DDR2 DDX11 DDX3X DHODH DLK1 EDN1 EDNRA EFTUD2 EIF5A EYA1 FANCB FANCF FANCL FAT4 FBXO11 FGF10 FGF3 FGFR2 FGFR3 FIG4 FKRP FKTN FOXI1 FOXP2 GABRD GATA1 GBA1 GLI3 GMNN GNAI3 GON7 GREB1L HDAC8 HEATR3 HECTD4 HIVEP2 HNRNPK HOXA13 HOXA2 HS6ST2 HSPA9 HSPG2 INTU ITGA6 ITGB4 KCNAB2 KCNJ10 KCTD1 KIF15 KMT2D LAGE3 LARGE1 LAS1L LETM1 LMBRD1 LMNA LUZP1 MAF MAN2C1 MAP1B MAPRE2 MBD5 MCM5 MED12 MEG3 MMP23B MSX2 NELFA NFIX NIN NSD2 NUP107 NUP133 ORC1 ORC4 ORC6 OSGEP OTUD6B PAK1 PAM16 PBX1 PCGF2 PCNT PDPN PIGG PIGN PIK3CA PLCB4 PLEC POC1A POLA1 POLE POLR1A POLR1B POLR1C POLR1D POMT1 POMT2 PRDM16 PRIM1 PRKCZ PSMD12 RBM10 RECQL RERE RIC1 RIPK4 RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 RSPRY1 RTL1 SALL1 SEMA3E SETD1A SF3B2 SF3B4 SIAH1 SIM1 SIX1 SIX5 SKI SKIC3 SLC26A4 SLC35C1 SLF2 SMAD4 SPEN SPOP STAG2 TBX15 TCOF1 TCTN3 TFAP2A TP53RK TP63 TPRKB TSR2 TWIST1 TWIST2 UBE4B UFC1 UQCRH WDR4 WDR73 WNT3 YRDC ZMYM2 ZNF462 HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES ABHD5 AHDC1 ARVCF ATR ATRIP B4GALT7 CDC6 CENPE CENPJ CEP152 CHD7 COL2A1 COL3A1 COMT CREBBP DNA2 EBF3 EP300 ESCO2 FGFR2 FIG4 FLI1 FN1 GP1BB HBA1 HBA2 HIRA HMX1 HNRNPH1 JMJD1C KAT6A KCTD1 KMT2B NUP85 PCNT PLK4 POLR3A PTPRF RBBP8 RBM10 RREB1 SCARF2 SEC24C SEMA3E SLC35C1 SMS TBX1 TRAIP UFD1 VPS13B ZMYM2 ZNF407 HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS C2CD3 CILK1 DYNC2LI1 EIF4A3 FGF10 FGFR2 FGFR3 FREM2 GLI3 NEK1 PRRX1 SETBP1 SF3B4 HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES ABCA12 ABCC9 ACAN ACP5 ACTB ACTL6B ACVR1 ADA ADA2 ADAMTS10 ADAMTS2 ADAMTSL2 ADNP AFF3 AFF4 AGPS AIFM1 ALDH18A1 ALG12 ALG13 ALG6 ALG9 ALMS1 ALOX12B ALOXE3 ALPL AMER1 AMMECR1 ANAPC1 ANKRD11 ANTXR2 AP1G1 APC ARCN1 ARHGAP31 ARID1A ARID1B ARID2 ARL6 ARL6IP6 ARSL ARX ASAH1 ASPH ASXL1 ASXL2 ATP6V1B2 ATP7A ATR B2M B3GALT6 B3GAT3 B3GLCT B9D1 BBS1 BCOR BCR BGN BHLHA9 BICRA BMP2 BMP4 BMPR1B BPNT2 BPTF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BTRC C12orf57 CACNA2D1 CAMK2A CAMK2G CAMTA1 CANT1 CASK CASZ1 CBFB CCBE1 CCDC22 CCDC28B CCDC47 CCDC8 CCN6 CCNQ CD96 CDC42BPB CDC45 CDC6 CDH11 CDK10 CDKL5 CDKN1C CDT1 CENPE CEP120 CEP152 CEP57 CERT1 CFAP410 CHD4 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST11 CHST3 CHSY1 CHUK CILK1 CLCN7 CLPB CLTCL1 CNOT2 CNOT3 COG1 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMP COX4I1 CPLANE1 CPLX1 CREB3L1 CREBBP CRIPT CRKL CRLF1 CRTAP CSGALNACT1 CSPP1 CTBP1 CTC1 CTNND2 CTSK CUL3 CUL4B CUL7 CWC27 DACT1 DCHS1 DCLRE1C DDR2 DDRGK1 DHCR24 DHCR7 DHODH DLK1 DLL4 DLX5 DLX6 DMXL2 DNMT3A DOCK6 DONSON DPF2 DPH1 DPH2 DPM1 DPYD DVL1 DVL3 DYM DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP EDA EDA2R EFNB1 EIF2AK3 EIF4A3 EN1 EOGT EP300 EPS15L1 ERCC4 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 EZH2 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBXL3 FBXL4 FBXO11 FBXO28 FBXW4 FERMT1 FGD1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP10 FLI1 FLNA FLNB FMR1 FN1 FRAS1 FTSJ1 FUT8 FZD2 GABBR2 GABRD GAD1 GALNT2 GATA1 GDF5 GGCX GHR GJA1 GJA5 GJA8 GJB2 GJB6 GLB1 GLI1 GLI3 GLUL GMNN GNA11 GNAO1 GNAS GNAS-AS1 GNB2 GNPAT GNPTAB GPC3 GPC4 GPC6 GPX4 GRIN1 GRIP1 GRM7 GSC H4C3 HBA1 HBA2 HDAC4 HDAC6 HDAC8 HEATR3 HEPHL1 HERC2 HESX1 HHAT HINT1 HMGA2 HNRNPR HOXA13 HOXD13 HPGD HRAS HSPG2 HTT HUWE1 HYLS1 IDH1 IDH2 IDUA IFNGR1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IGF1R IGF2 IHH IKBKG IL2RG IL6ST IL7R INPP5K INPPL1 INTU IQCE IRX5 JAG1 KAT6A KAT6B KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNN3 KDM1A KDM4B KDM5C KDM6A KIAA0586 KIAA0753 KIF15 KIF21A KIF22 KIF5C KIF7 KIFBP KLHL15 KMT2A KMT2D KNSTRN KRAS KYNU LAMA5 LAS1L LBR LETM1 LHX3 LHX4 LIFR LIG4 LMBR1 LMNA LMNB2 LMX1B LONP1 LRP4 LTBP2 LTBP3 LUZP1 LZTFL1 MAB21L2 MACROH2A1 MAD2L2 MAFB MAGEL2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MATN3 MBD5 MBTPS1 MBTPS2 MCTP2 MECOM MECP2 MED12 MEG3 MEGF8 MEIS2 MET MGP MIA3 MIR140 MIR17HG MKRN3 MMP13 MMP23B MMP9 MRPS28 MSL3 MTFMT MTHFS MTOR MTX2 MYCN MYH3 MYSM1 NALCN NANS NBAS NDN NEK1 NELFA NEPRO NEUROD2 NFIX NGLY1 NHS NIN NIPBL NKX2-6 NOG NOTCH1 NOTCH2 NPAP1 NPR2 NSD2 NSDHL NSUN2 NTNG1 NXN OBSL1 OCA2 OFD1 ORC1 ORC4 ORC6 P3H1 PALB2 PAM16 PAPSS2 PCGF2 PCNT PCYT1A PDE3A PDE4D PDGFRB PDHA1 PDPN PEX5 PEX7 PGAP2 PGAP3 PHF6 PHGDH PHOX2A PHYH PIGB PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLCB3 PLXND1 PNKP POC1A POLA1 POLE POLR3A POP1 POR PORCN POU1F1 PPIB PPM1D PPP2R3C PRDM16 PRG4 PRIM1 PRKACA PRKACB PRKAR1A PRKCZ PRKG2 PRMT7 PROP1 PSMD12 PTCH1 PTDSS1 PTH1R PTHLH PUF60 PUM1 PWAR1 PWRN1 RAB23 RAB33B RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAG1 RAG2 RAI1 RB1 RBBP8 RBM10 RBM8A RBPJ RECQL4 RERE REV3L RFWD3 RIPK4 RMRP RNF2 RNU4ATAC ROBO1 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RSPO2 RSPRY1 RTL1 RUNX2 RYR3 SALL1 SALL4 SATB1 SATB2 SCARF2 SCN1B SCN2A SCUBE3 SEM1 SEMA5A SERPINH1 SETBP1 SF3B4 SH3PXD2B SHH SHOX SIK1 SIK3 SIL1 SIM1 SIN3A SKI SLC10A7 SLC25A22 SLC25A24 SLC26A2 SLC31A1 SLC32A1 SLC35A2 SLC35C1 SLC35D1 SLC39A13 SLC39A8 SLC6A17 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMOC1 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOX11 SOX4 SOX9 SPART SPECC1L SPEN SRCAP SRY STAMBP STX16 STXBP1 SUCLG1 SVBP TAPT1 TBC1D24 TBCE TBCK TBL1XR1 TBX15 TBX22 TBX3 TBX4 TBX5 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TGFB1 TMEM53 TMEM67 TNFRSF11A TNFRSF11B TNNI2 TNNT3 TONSL TP63 TPM2 TPR TRAF3IP1 TRAPPC2 TRIM8 TRIO TRIP11 TRPM3 TRPS1 TRPV4 TRPV6 TRRAP TSR2 TTC21B TUBA1A TUBB2B TUBB3 TWIST1 TWIST2 UBE2A UBE2T UBE4B UBR7 UNC80 USP7 USP9X VAC14 VPS13B VPS35L WAC WASF1 WDR19 WDR35 WDR81 WIPI2 WLS WNT10B WNT3 WNT5A WNT7A WRN XRCC2 XRCC4 XYLT1 YY1AP1 ZBTB20 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF407 ZNF699 ZSWIM6 HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW AARS1 AASS ABCA12 ADA AEBP1 AHSG ALOX12B ALOXE3 ALX1 ALX4 ANAPC1 ANTXR1 APCDD1 ASPRV1 ASXL3 ATAD3A ATP1A2 ATP1A3 ATR AXIN2 B4GALT7 BANF1 BCL11B BRAF BRF1 CACNA1A CCNK CDC42 CDC42BPB CDC45 CDH3 CEP120 CHD7 CHST3 CLDN1 COG6 COL11A1 COL3A1 CRIPT CWC27 CYP4F22 DCAF17 DCLRE1C DDX3X DHX30 DLX4 DNAJC21 DOLK DPH1 DPH2 DPH5 DSC3 DSG4 DSP EBP EDA EDA2R EDAR EDARADD EPS8L3 FAM111B FIG4 FLI1 FRAS1 GAD1 GJA1 GJB2 GJB6 GNPTAB GTPBP2 H3-3A H4C5 HBA1 HBA2 HDAC4 HECW2 HEPHL1 HERC1 HNRNPK HR HRURF IL2RG IL7R IRX5 ITGA3 ITGB6 JARID2 JUP KANK2 KAT5 KAT6A KDF1 KDM1A KDM4B KDM6A KIFBP KMT2D KMT5B KRAS KREMEN1 KRT17 KRT25 KRT71 KRT74 KRT85 LARP7 LIG4 LIPH LIPN LMBRD2 LMNA LPAR6 LRP1 LSS LTV1 LZTR1 MAN1B1 MAP2K1 MAP2K2 MAPKAPK5 MARS1 MBTPS2 MED12 MED12L MED25 MEGF8 MEIS2 MESD MTX2 NAA10 NECTIN1 NF1 NFIB NIPAL4 NSD1 NSUN2 NUP188 ODC1 OTX2 PCNT PEX1 PEX6 PI4KA PIGK PIGL PKP1 PLXNA1 POLR3A PPP1CB PPP2R3C PQBP1 PRRX1 PURA RAF1 RAG1 RAG2 RBL2 RECQL4 RHOBTB2 RIN2 RIPK4 RMRP RNF113A RNU12 RNU4ATAC RPL21 RPS28 SDR9C7 SF3B4 SHOC2 SIAH1 SLC1A3 SMARCA2 SMS SNRPE SON SOS1 SOS2 SOX18 SPINK5 SPOP SPRED2 ST14 STAG1 STAG2 SULT2B1 TBCD TBX3 TCF4 TGDS TGM1 THUMPD1 TMEM147 TP63 TRPS1 TTC7A TWIST2 UBE3B UROS USB1 VAC14 WDR26 WDR35 WLS WNT10A WNT10B YY1 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_EYELID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID ADAR ADNP ALX1 CCNQ CDH11 CHD7 DHODH EDNRA EIF5A ESCO2 FGFR1 FLI1 FRAS1 FREM1 FREM2 GRIP1 IFIH1 KCTD1 KRAS LSM11 MAB21L2 PHGDH POLR1A POLR1B POLR1C POLR1D PSAT1 RIPK4 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL26 SAMHD1 SEMA3E SF3B2 SF3B4 SLC25A24 TCOF1 TREX1 TWIST1 TWIST2 TXNL4A ZPR1 HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE AR DCAF17 DHH WNT3 WNT4 HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR AGPS AIFM1 ALG12 AMMECR1 B3GALT6 BHLHA9 BMPR1B CAMK2A CANT1 CCN6 CFAP410 CHD4 CHST3 COL11A1 COL2A1 COMP CPLANE1 CTC1 DDRGK1 DLK1 EXOC6B FGFR3 FLNB FN1 GDF5 IDUA IFNGR1 IFT140 IHH LBR MATN3 MBTPS1 MEG3 MMP9 MTHFS MTX2 NANS PEX5 PIK3C2A POC1A POLR3A POP1 PRG4 PUF60 RAD21 RNU4ATAC RSPRY1 RTL1 RUNX2 SALL4 SERPINH1 SHOX SLC10A7 SLC26A2 SLC31A1 SLC39A13 SUCLG1 TAPT1 TBX15 TBX4 TGDS TMEM67 TNFRSF11A TONSL TRAF3IP1 TRAPPC2 TRPV4 TRPV6 WNT7A XYLT1 HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA AFF3 AFF4 AMER1 ATR BHLHA9 BMPR1B CEP120 COG4 COL11A1 CPLANE1 DYNC2H1 EIF4A3 FLNA FLNB FZD2 GDF5 GPC6 IFT122 INPPL1 INTU LMBR1 MET PTH1R RBM8A SF3B4 SHOX SLC35D1 SMOC1 SOX9 TBX15 WNT7A HP_APLASIA_HYPOPLASIA_OF_THE_FOVEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FOVEA AP3D1 ATF6 BLOC1S3 BLOC1S5 CACNA1F CFAP418 CNGA3 CNGB3 DCT GDF3 GDF6 GNAT2 GPR143 HPS4 HPS5 IKBKG MC1R MTSS2 NEU1 OCA2 PAX6 PDE6C PDE6H PRR12 RPGR SLC24A5 SLC25A19 SLC38A8 SLC45A2 TYR UGP2 WT1 HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX ABCC9 ACVR1 BHLHA9 BMP2 BMPR1B CHST11 CHSY1 CPLX1 CTBP1 EIF4A3 FGFR1 FGFR2 FGFRL1 FIG4 FLNA GDF5 GJA1 GLI3 GPC4 HOXA13 HOXD13 IHH KAT6A KCNJ8 LETM1 MAP3K20 MGP NELFA NOG NSD2 PIGG PTHLH PUF60 ROBO1 SALL4 TPR VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS AGPS ALG12 ATP7A ESCO2 FANCB FLNA FLNB FZD2 GDF5 GNPAT GPC6 GSC IFT122 IHH KIAA0753 LMBR1 LONP1 MTHFS MYSM1 NOG PEX5 POLR3A RBM8A RECQL4 RNU4ATAC SALL4 SNRPB SUCLG1 TBX3 TBX5 TGDS TNFRSF11B ZIC3 HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR DDX11 EYA1 FGF3 FOXI1 FOXP2 GREB1L KCNJ10 SIX1 SIX5 SLC26A4 HP_APLASIA_HYPOPLASIA_OF_THE_LENS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LENS ADAMTS10 COL2A1 CPAMD8 FBN1 FBXW11 FGF3 FOXE3 HMX1 LMX1B LTBP2 MT-CYB NDP PRR12 TONSL XYLT2 HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS AARS2 ACE ACTA1 ADGRG6 AGT AGTR1 ALDH1A2 ALG3 ALG9 ASCC1 ATP5F1A B3GALT6 BCOR BMPER CC2D2A CDC45 CEP120 CEP55 CHRM3 CHRNA1 CHRND CHRNG COL2A1 COQ7 CPLX1 CSPP1 CTBP1 CTNNA2 DHCR7 DLK1 DOK7 DONSON DPAGT1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L ETFA ETFB ETFDH EVC EVC2 FAM20C FANCB FGF20 FGFR3 FLNA FLNB FRAS1 FREM2 FUZ GATA6 GBA1 GFRA1 GLDN GLE1 GLI1 GPKOW GREB1L GRIP1 HOXD13 HSPG2 IFT140 IFT172 IFT80 IFT81 INTU INVS ITGA8 KAT6B KIAA0586 KIAA0753 KIF21A KLHL40 KLHL41 LBR LETM1 LGI4 LIFR LMNA LMOD3 LONP1 LTBP4 MCTP2 MEG3 MKKS MKS1 MUSK MYH11 MYH3 MYOD1 MYRF NAA10 NDUFB10 NEB NEK1 NEK8 NEK9 NELFA NKX2-6 NPHP3 NSD2 NSDHL NUP88 PEX1 PHGDH PI4KA PIEZO2 PIGG PIGN PKHD1 PLXND1 PORCN PRKACA PRKACB PRRX1 PTH1R RAPSN RARB RBM10 REN RET RLIM RSPO2 RTL1 RYR1 SCN4A SETBP1 SF3B2 SLC18A3 SLC25A24 SLC26A2 SLC31A1 SMO SON SPECC1L STRA6 TAPT1 TCTN3 TMEM94 TRIP11 TRIP4 TRPV4 TTC21B TUBA1A TXNDC15 VANGL1 WDR19 WDR35 WNT3 WNT4 WNT7B WNT9B WT1 ZFPM2 ZIC3 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_HAND ATP6V1B2 BHLHA9 BMP2 BMP4 BMPR1B CEP152 COL10A1 COL2A1 DOCK6 DVL1 EIF2AK3 FGFR1 FGFR2 FGFR3 FIG4 GATA1 GDF5 GJA1 GMNN GNB2 HOXA13 HOXD13 IFT140 IFT57 IGF2 IHH INTU KDM6A KMT2A KMT2D LMNA MBD5 MECOM MEGF8 MIR17HG MYCN NEPRO NIN NOG NSDHL PCNT PDE4D PHF6 POLA1 PTDSS1 PTH1R PUF60 RAB23 RBBP8 ROR2 RUNX2 SLC26A2 SRCAP TFAP2B TRPV4 VAC14 WNT5A HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES EOGT FIG4 IHH NOG RAB23 VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_NAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS AARS1 ACTG2 ACTL6B ADAMTSL2 AFF4 ALG12 ALG3 ALOX12B ALOXE3 APC APC2 ARHGAP31 ARID1A ARID1B ARID2 ARX ATP2A2 ATP6V0A2 ATP6V1B2 B3GALT6 BAZ1B BCL7B BCR BHLHA9 BICRA BMPER BUD23 CARS1 CASK CCDC22 CCDC32 CDH1 CDIN1 CDKL5 CDKN1C CENPT CKAP2L CLIP2 COL11A1 COL11A2 COL17A1 COL7A1 CPT2 CRKL CTC1 CWC27 DHX37 DKC1 DLK1 DLL4 DMXL2 DNAJC21 DNAJC30 DOCK6 DPF2 DPH1 DPH2 DPYD DPYSL5 DSP DYNC2LI1 EED EIF4H EIF5A ELN EOGT ERCC2 ERCC3 EVC EVC2 EZH2 FBXO28 FGFR1 FGFR2 FIG4 FKBP6 FLNB FRAS1 FTO GDF5 GJB6 GLI1 GNAO1 GPC3 GPC4 GRHL2 GRIN1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HEPHL1 HMGA2 HOXA13 HRAS HUWE1 HYMAI IFT122 IFT43 IGF2 IHH IKBKG INPPL1 ITGB4 JUP KCNA1 KCNH1 KCNMA1 KCNN3 KDM1A KIF15 KMT2D KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIG4 LIMK1 LMNA LMX1B LRP4 MAPK1 MBTPS2 MCTP2 MEG3 METTL27 MLXIPL MMP1 MPLKIP MSX1 NCF1 NECTIN4 NEPRO NEUROD2 NHP2 NOG NOP10 NOTCH1 NOTCH2 NPM1 NPR2 NSD1 NSDHL NSUN2 ODC1 OTUD5 PARN PEX2 PGAP2 PGAP3 PIGA PIGB PIGF PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PLAG1 PLAGL1 PLEC PNKP POC1A POLR3A POP1 PORCN PPM1D PPP1CB PPP2R5D PRKACA PRKACB PRR12 PTDSS1 RAF1 RBBP8 RBPJ RERE RFC2 RIPK4 RLIM RNF113A ROR2 RPS6KA3 RSPO1 RSPO4 RTEL1 RTL1 SCN1B SCN2A SCO2 SET SETD2 SHANK3 SHOC2 SHOX SIAH1 SIK1 SLC25A22 SLC25A24 SLC32A1 SLC35D1 SMARCA2 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX9 SPEN STAMBP STX1A SUZ12 TARS1 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TERC TERT TFAP2A TINF2 TMEM222 TMEM270 TP63 TRIM8 TRRAP TSPAN7 TWIST1 TWIST2 TYMS USB1 VAC14 VPS35L VPS37D WASHC5 WDR73 WLS WNT10A WNT7A WRAP53 ZBTB20 ZIC3 ZMPSTE24 ZMYM2 ZNF462 HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE ALX4 PDGFRB PPP1R12A SIX3 SLC25A24 TONSL USH1G HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM FLNB NOG PTCH1 SIX3 TGIF1 HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES ALG9 ANTXR1 BRD4 CCDC22 CCDC47 CDH11 CHRNG CPLX1 CTBP1 DLK1 DPYSL5 EDA EDARADD EFNB1 FAT4 FIG4 GNE HDAC8 IKBKG KCTD1 KDM6B KIF15 KMT2D KRT10 LETM1 MEG3 MEGF8 MGAT2 NELFA NIPBL NSD2 PEX2 PIGG PIGL PIGN PORCN PTPRF RAD21 RSPO2 RTL1 SETBP1 SLC25A24 SMC1A SMC3 TBX3 TP63 TUBB TWIST2 UBR1 USP9X VAC14 VPS35L WASHC5 WNT3 WNT7A HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE ALDH1A2 ALDH1A3 ANKRD11 APC ARNT2 ARSL ASNS ATAD3A B3GALNT2 CACNA1C CASK CDC42BPB CDON CENPF CEP85L CHN1 COL25A1 CRPPA DDHD2 DNMT3A ERF EXOC2 FANCB FANCI FDFT1 FGFR1 FKRP FKTN FOXA2 GATAD2B GDF3 GDF6 GLI2 GLYCTK GMPPB GNPAT GPR161 GRIA4 HESX1 HNRNPK HNRNPU IFT74 KCNK4 KIF14 KIF21A KNSTRN LARGE1 LHX3 LHX4 MACF1 MAFB MAP2K2 MBTPS2 MED12 MEF2C NDE1 NEFL NFIX NR2F1 OTUD5 OTX2 PAX6 PHOX2A PIK3CD PLXNA1 POGZ POLR3A POMGNT1 POMK POMT1 POMT2 POU1F1 PPP1CB PPP2R1A PROKR2 PROP1 PRPS1 PTF1A PTPN23 PUF60 RECQL4 RFX7 RNF113A RNF135 ROBO1 RSPO2 RTTN SALL4 SCN8A SETD2 SIX6 SNAP29 SON SOX2 SOX3 SPOP SRD5A3 STAG2 TRIT1 TUBA1A TUBA8 TUBB2B TUBB3 WDR11 WNT3 WT1 YME1L1 ZIC1 ZPR1 ZSWIM6 HP_APLASIA_HYPOPLASIA_OF_THE_OVARY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY ALG9 AR ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMP15 BNC1 C14orf39 CEP19 CEP290 CFAP418 CHD7 CLPP DCAF17 DHH DHX37 DMRT3 DUSP6 ERAL1 FGF17 FGF8 FGFR1 FIGLA FOXL2 FSHR GATA4 GNRH1 GNRHR HARS2 HFM1 HS6ST1 IFT172 IFT27 IFT74 KISS1 KISS1R LARS2 LEP LEPR LZTFL1 MAP3K1 MCM8 MKKS MKS1 MRPS22 MSH4 NDNF NHLH2 NOBOX NPHP1 NR0B1 NR5A1 NSMF NUP107 PAX6 PMM2 POLR3H PPP1R12A PROK2 PROKR2 PSMC3IP PTPN11 SCAPER SCLT1 SDCCAG8 SETBP1 SOX9 SPIDR SPRY4 SRY STAG3 TAC3 TACR3 TP63 TRIM32 TTC8 VAMP7 WDPCP WDR11 WT1 WWOX ZFPM2 ZPR1 ZSWIM7 HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES AUTS2 CHST14 DOK7 DSE KIF21A MUSK MYH3 MYOD1 NALCN NUP88 PIEZO2 PLOD3 RAPSN RIPK4 SLC18A3 SLC39A13 TUBA1A HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA ANAPC1 ARID1B BHLHA9 CDC45 CDC6 CDT1 CHRNG DONSON ESCO2 FKBP10 GDF5 GJB2 GJB6 GMNN KAT6B LMBR1 LMX1B ORC1 ORC4 ORC6 PITX1 PRMT7 RBM8A RECQL4 SHH SHOX SOX9 STXBP1 TBX4 UBR7 WNT7A ZSWIM6 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_5TH_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_5TH_TOE ARID1B KCNN3 MAP3K20 NOG SMARCA4 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX ACVR1 FIG4 HOXD13 IHH MAP3K20 PTHLH VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND ABCC9 ACP5 ACTL6B ACVR1 ADAMTS2 ALG6 ANAPC1 ARHGAP31 ARID1A ARID1B ARSL ATP6V1B2 BCR BGN BHLHA9 BMP2 BMP4 BMPR1B BRD4 BRF1 CANT1 CBFB CCDC22 CDH11 CEP152 CHST11 CHST3 CHUK CLCN7 CNOT1 COG4 COL10A1 COL11A2 COL2A1 COMP CRIPT CRKL CWC27 DDR2 DLK1 DLL4 DNMT3A DOCK6 DPYS DVL1 DVL3 DYM DYNC2LI1 EDA EDA2R EIF2AK3 EIF4A3 EOGT EVC EVC2 EXTL3 FANCD2 FANCI FBN1 FGFR1 FGFR2 FGFR3 FIG4 FLNA FLNB FN1 FRAS1 FTSJ1 FZD2 GATA1 GDF5 GGCX GJA1 GJA5 GJA8 GLI1 GMNN GNAS GNB2 GPC3 GPC4 GPX4 HDAC4 HDAC8 HHAT HNRNPR HOXA13 HOXD13 IDH1 IFT122 IFT140 IFT43 IFT52 IFT57 IGF2 IHH IL11RA INPPL1 INTU JAG1 KAT6B KCNH1 KCNJ2 KCNJ8 KCNN3 KDM5C KDM6A KIF15 KMT2A KMT2D KNSTRN LAMA5 LBR LIFR LMBR1 LMNA LONP1 MAP3K7 MAPK1 MBD5 MCTP2 MECOM MEG3 MEGF8 MGP MIA3 MIR17HG MTOR MYCN NEPRO NFIX NHS NIN NIPBL NOG NOTCH1 NOTCH2 NPR2 NSDHL NXN PCNT PCYT1A PDE3A PDE4D PDGFRB PGAP2 PGAP3 PHF6 PIEZO2 PIGB PIGF PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3CD POC1A POLA1 POR PORCN PRKACA PRKACB PRKAR1A PRKG2 PRMT7 PTCH1 PTDSS1 PTH1R PTHLH PUF60 RAB23 RAB33B RAB3GAP2 RAD21 RBBP8 RBM8A RBPJ RECQL4 RIPK4 ROBO1 ROR2 RPS6KA3 RTL1 RUNX2 SALL4 SETBP1 SH3PXD2B SHH SLC25A24 SLC26A2 SLC39A13 SMARCA2 SMARCB1 SMARCE1 SMC1A SMC3 SOX11 SOX9 SRCAP STAMBP TBC1D24 TBX3 TFAP2B TGFBR2 TP63 TRIO TRIP11 TRPS1 TRPV4 TWIST1 VAC14 VPS35L WDR19 WDR35 WNT5A WNT7A XRCC2 XYLT1 ZBTB20 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB ACVR1 BMPR1B BRD4 CANT1 CNOT1 DLK1 FANCD2 FANCI FGFR2 FIG4 FLNA FZD2 GDF5 GNAS HDAC8 HOXA13 IHH KCNH1 KNSTRN LAMA5 LMBR1 MAP3K7 MEG3 NIPBL NOG PCNT PIK3CD PTCH1 RAD21 ROBO1 RTL1 SALL4 SETBP1 SHH SMC1A SMC3 SOX9 SRCAP TRIO VAC14 VPS35L XRCC2 HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES ACVR1 ARID1B ARSL ATP6V1B2 BMPR1B EOGT FIG4 GDF5 GPC4 HOXD13 IHH KCNH1 KCNN3 LMNA MAP3K20 NOG PIGF PIGL PTHLH RAB23 RIPK4 ROR2 SMARCA4 TBC1D24 TP63 TRPV4 VAC14 WLS WNT7A HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND BMPR1B COL2A1 FANCD2 FGFR3 FIG4 GDF5 IHH KIF15 LMBR1 MTOR SHH TRIO VAC14 XRCC2 HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE ABCC9 CCDC8 COL11A2 COL2A1 CPLX1 CTBP1 CUL7 FGFR2 HSPG2 INPPL1 INTU KAT6B LETM1 MATN3 NELFA NSD2 OBSL1 PIGG SETBP1 TBX15 WNT7A HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS AFF4 ALG12 APC ATR BRCA1 BRCA2 BRIP1 CCNQ CHD7 CHN1 DHCR7 DHODH DONSON EIF4A3 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR1 FGFR2 FGFR3 FKBP10 FLNB GDF5 GLI3 HOXD13 IFT81 IHH LMBR1 LRP4 MACROH2A1 MAD2L2 MAFB MMP13 MMP9 MYH3 NALCN NIPBL NPR2 PALB2 PDE4D PITX1 PLXND1 PRKAR1A RAD51 RAD51C RBM10 RBM8A RECQL4 REV3L RFWD3 RIPK4 ROR2 RPL26 RPS19 SALL4 SF3B4 SHH SHOX SLX4 TBX3 TBX5 TGFB1 TNNI2 TNNT3 TPM2 TRIO TRIP11 UBE2T WNT7A XRCC2 ZIC3 HP_APLASIA_HYPOPLASIA_OF_THE_RETINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA ABCA4 AP3D1 ATF6 ATOH7 BLOC1S3 BLOC1S5 CACNA1F CFAP418 CNGA3 CNGB3 COL18A1 DCT DPYD EBP ELOVL4 EPG5 FOXC1 FZD4 GDF3 GDF6 GNAT2 GPR143 HMX1 HPS4 HPS5 HPS6 IKBKG LAMB2 LYST MAF MC1R MPDZ MTSS2 MYO5A NDP NEU1 OCA2 PAX6 PDE6C PDE6H POMGNT1 PROM1 PRPH2 PRR12 RPGR SLC24A5 SLC25A19 SLC38A8 SLC45A2 TRIM44 TYR UGP2 WT1 HP_APLASIA_HYPOPLASIA_OF_THE_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS ALDH1A2 ALG12 ALPL ATP6V1B2 ATR B3GALT6 B3GAT3 B4GAT1 BMP2 BMPER C2CD3 CASZ1 CCDC22 CENPJ CEP120 CEP152 CHST3 COL11A1 COL11A2 COL2A1 CPLANE1 CSPP1 CUL7 DDR2 DDRGK1 DLK1 DNMT3A DONSON DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B ERMARD EVC EVC2 EZH2 FBN1 FGFR3 FIG4 FLI1 FLNA FLNB FUZ GABRD GNPTAB GPC3 GPC4 GPX4 HDAC6 HES7 HNRNPR HSPG2 IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 INTU KCNAB2 KIAA0586 KMT2A KYNU LAMA5 LBR LMX1B LUZP1 MEG3 MMP23B MYF5 NALCN NEK1 NFASC NKX3-2 NSDHL NUP88 ORC1 ORC6 PAICS PAM16 PDPN PLCB3 PORCN PRDM16 PRIM1 PRKCZ PTCH1 PTH1R PTPN11 PUF60 RERE RNU12 RNU4ATAC ROR2 RPS19 RRAS2 RSPO2 RTL1 RUNX2 SCARF2 SCUBE3 SETBP1 SF3B4 SIX6 SKI SLC26A2 SLC35D1 SMO SNRPB SOX2 SOX9 SPEN SRCAP TAPT1 TBC1D24 TBCK TBX6 TOR1A TRIP11 TRPV4 TRPV6 UBA1 UBE4B VAC14 VANGL1 VPS35L WASHC5 WDR35 WNT3 HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM CCL2 FANCB FANCL FUCA1 FUZ HAAO MNX1 NODAL POC1A PTH1R ROR2 RPS19 TBXT TP63 TRIP11 VANGL1 VANGL2 WNT7A ZIC3 HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE ACTB COL11A1 COL11A2 COL2A1 DLK1 DYM FGFR1 FGFR3 FIG4 FLNA GNPTAB GSC INPPL1 MEG3 NSDHL PCNT POR PSMB8 RIPK4 RSPO2 RTL1 RUNX2 SCARF2 SLC35D1 SOX9 TBX15 TBX3 TRIP11 VAC14 WDR35 HP_APLASIA_HYPOPLASIA_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN ABCC6 ABL1 ACD ADA2 ADAMTS2 ADAMTSL2 ADNP AEBP1 AIP ALDH18A1 ALG9 ALX4 ANAPC1 ANTXR2 ARF1 ARFGEF2 ARHGAP31 ARL6IP6 ARMC5 ATM ATP6V1B2 ATRX B3GALT6 B4GALT7 BGN BMS1 BRAF C1R C1S CARMIL2 CAV1 CDH1 CDH23 CDKN2A CHRNG CHST14 CHUK COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COPB1 COX7B CPLX1 CTBP1 CTC1 CTNNB1 CTSC CUL4B DDB2 DDR2 DHCR24 DHX30 DKC1 DLG4 DLL4 DOCK6 DSE DSP DST EDA EDAR EDARADD ENPP1 EOGT ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERMARD FBN1 FERMT1 FGFRL1 FKBP14 FLNA FMR1 GNA11 GNAS GORAB GSN HCCS HSPA9 IFT140 IPO8 ITGA6 ITGB4 KCTD1 KDF1 KLHL24 KRAS KRT14 KRT2 KRT5 LAMA3 LAMB3 LAMC2 LETM1 LIFR LMNA LOX LRP1 LSS MAP1B MCTP2 MGP MMP1 MSX2 MTAP MVK MYH3 NDUFB11 NEDD4L NELFA NFIX NHP2 NOP10 NOTCH1 NPM1 NR3C1 NSD2 ORC1 PARN PDE11A PDGFRB PEPD PIGG PIK3R1 PLEC PLOD1 PMVK POLD1 POLH POLR3A PORCN PPARG PPP1CB PRKAR1A PRKD1 PROC PROS1 PTDSS1 PYCR1 RBCK1 RBPJ RECQL RECQL4 RTEL1 SATB2 SLC29A3 SLC2A10 SLC39A13 SMAD2 SMAD3 SMARCAD1 SMO SOX18 SPEN TAF1 TCIRG1 TERC TERT TFAP2A TGFB2 TGFBR1 TGFBR2 TINF2 TMTC3 TNFRSF11A TNXB TP53 TP63 TRAF6 TWIST2 TYMS UBA2 UBE3B UBR1 USB1 USP48 USP8 WNT10A WRAP53 WRN XPA XPC ZMPSTE24 ZNRF3 HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN AIRE B9D1 B9D2 BCL11A CC2D2A CCDC103 CCDC32 CCDC39 CCDC40 CCDC65 CCNO CEP290 CFAP221 CFAP298 CFAP300 CFAP74 CFC1 CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FAM111A FOXF1 FOXJ1 GAS2L2 GAS8 GDF1 HBB HBG1 HBG2 HMOX1 HYDIN KATNB1 KLF1 LRRC56 MCIDAS MCM10 MKS1 MNS1 MYCN NDE1 NEK10 NEK8 NME5 NME8 NODAL NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORAI1 RELN RPGR RPGRIP1 RPGRIP1L RPSA RSPH1 RSPH3 RSPH4A RSPH9 SAMD9 SMAD2 SPAG1 SPEF2 STIM1 STK36 STRA6 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC12 TWIST1 TXNDC15 WNT3 ZEB2 ZIC3 ZMYND10 HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM ARID1B BUB1B FIG4 FRA10AC1 FRAS1 GPC3 GPC4 LAMA5 LRP2 NFIX NIPBL NOG ORC1 ORC6 PCGF2 RBM10 SETBP1 SOX9 TMEM231 VAC14 HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS EDA IKBKG KDF1 LMNA NFKBIA NTRK1 TBX3 ZMPSTE24 HP_APLASIA_HYPOPLASIA_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB ACAN ACVR1 ADA2 ADAMTS10 APC ATP6V1B2 BCOR BHLHA9 BICRA BMPR1B BRCA2 BRD4 BRIP1 CANT1 CHD7 CHN1 CHST11 COL2A1 CPLX1 CREBBP CTBP1 CUL3 DHCR7 DHODH DLK1 DONSON EIF4A3 EP300 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FBN1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FRAS1 FZD2 GATA1 GDF5 GNAS HDAC8 HEATR3 HOXA13 IHH KCNH1 KDM1A KNSTRN LAMA5 LETM1 LIG4 LMBR1 LMNB2 LRP4 LTBP2 MAFB MAP3K7 MED12 MEG3 MGP MIR17HG MYCN NELFA NIPBL NOG NSD2 NSUN2 PALB2 PCNT PIGG PIK3CD PKDCC PLXND1 PSMD12 PTCH1 RAD21 RAD51 RAD51C RB1 RBM8A RECQL4 REV3L RFWD3 RIPK4 RNU4ATAC ROBO1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 RTL1 SALL4 SETBP1 SF3B4 SHH SIN3A SLC26A2 SLX4 SMC1A SMC3 SON SOX9 SRCAP SVBP TBX5 TFAP2A TP63 TRIO TRPM3 TSR2 UBE2T VAC14 VPS35L WIPI2 XRCC2 ZMYM2 ZNF699 HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS ADA AK2 ANTXR2 ARVCF ATM CHD7 COMT DCLRE1C FREM2 G6PC3 GP1BB HIRA IL2RG JMJD1C KMT2D LTBP4 MCM10 NEK9 NKX2-6 NSMCE3 ORAI1 PEX5 PI4KA PLXND1 POLR1B POLR1C POLR1D POLR3A RAG1 RAG2 RORC RREB1 SEC24C SKIC2 SKIC3 TBX1 TBX2 TCOF1 TP63 TTC7A UFD1 WAS WIPF1 HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND ADAMTSL1 DUOX2 FOXE1 GLI3 GNB2 HESX1 IRS4 KAT6B KMT2D LHX3 LHX4 NKX2-1 NKX2-5 NSDHL PAX8 POLR1B POLR1C POLR1D POU1F1 PROP1 SLC26A4 TCOF1 TRHR TSHB TSHR HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA ALG12 ATP7A BHLHA9 BMPR1B CEP120 CHD7 DLK1 DONSON DYNC2H1 EIF4A3 FLNB GDF5 GLI3 GPC6 HYLS1 IHH INTU LAMA5 LIFR LMBR1 MEG3 NEK1 PITX1 RTL1 SHH SHOX SLC31A1 SLC35A2 SMOC1 TCTN3 ZSWIM6 HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE B9D1 B9D2 BMP4 CC2D2A CEP290 CSPP1 DHCR7 ECM1 EDN1 GLI3 GNAI3 LMNB2 MKS1 MYMK MYMX NEK1 OTX2 PLCB4 PLXND1 PRRX1 PTDSS1 RBBP8 REV3L RPGRIP1 RPGRIP1L SMO TBX15 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIM37 TXNDC15 VPS13B HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS EFTUD2 GLI2 KAT6A KCTD1 NUP188 SF3B2 SMCHD1 HP_APLASIA_HYPOPLASIA_OF_THE_ULNA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA APC B2M BHLHA9 BMPR1B BRCA1 BRCA2 BRIP1 CCDC8 CHD7 CHST3 COL2A1 CUL7 DHODH DYNC2H1 ERCC4 ESCO2 EXOC6B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR2 FLNB GDF5 GSC IHH JAG1 LMBR1 LRP4 MAD2L2 NOG OBSL1 PALB2 PDE4D PIGT PRKAR1A RAD51 RAD51C RBM8A RECQL4 RFWD3 ROR2 RPL26 SALL4 SCARF2 SF3B4 SHOX SLX4 TBX3 TBX5 UBE2T VPS35L WNT7A XRCC2 HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS ADH5 AR ARID1B B3GLCT BMP15 BMPR1B BNC1 C14orf39 CHD7 CLPP COX7B CPLX1 CTBP1 CYB5A CYP11A1 CYP11B1 CYP17A1 DCAF17 DHH DHX37 DUSP6 ERAL1 ESR1 FANCL FGF17 FGF8 FGFR1 FGFRL1 FIGLA FOXL2 FSHR GATA3 GLI3 GNRH1 GNRHR HCCS HNF1B HS6ST1 IRF6 KIF14 KISS1 KISS1R LARS2 LETM1 MINPP1 MRPS22 MSH4 MSH5 MYRF NDUFB11 NHLH2 NIN NR5A1 NSD2 NSMF NUP107 POLR3H POR PPP2R1A PPP2R3C PROK2 PROKR2 PSMC3IP RBM8A SOHLH1 SOX11 SPIDR SPRY4 STRA6 TAC3 TACR3 TOE1 TP63 TXNDC15 WDR11 WNT4 WNT7A ZSWIM7 HP_APLASIA_HYPOPLASIA_OF_THE_UVULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM MAD2L2 NXN PALB2 PI4KA PRR12 RAD51 RAD51C RFWD3 ROR2 SLX4 SPTBN1 UBE2T WDR35 XRCC2 HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA B3GLCT CYB5A CYP11B1 CYP17A1 DHX37 DMRT3 GATA3 GATA4 GLI3 IRF6 MAP3K1 NR0B1 NR5A1 PAX3 PPP2R1A SOX9 SRY VAMP7 WNT4 WT1 WWOX ZFPM2 HP_APLASIA_HYPOPLASIA_OF_THE_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_VERTEBRAE ACVR1 ARSL CLCN3 COL11A1 COL2A1 CSPP1 DDRGK1 EBP FLNB FN1 FUZ GLB1 GNS INPPL1 KIAA0586 LBR NOTCH2 NSDHL POGZ POLR3A PRKAR1A RINT1 RPS19 SF3B2 SIX6 SLC26A2 SLC29A3 SLC35B2 SLC35D1 SOX2 SOX9 SUMF1 TCIRG1 TNFRSF11A TRPV4 VANGL1 HP_APLASIA_HYPOPLASIA_OF_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_TOE ABCC9 ACVR1 ADA ADAMTS2 ADNP ALMS1 ALOX12B ALOXE3 APC ARHGAP31 ARID1B ARSL ASAH1 ASXL1 B3GLCT BHLHA9 BMP2 BMPR1B BPNT2 C12orf57 CHD7 CHST11 CHSY1 COL2A1 COX4I1 CPLX1 CTBP1 DACT1 DCLRE1C DHCR7 DLL4 DLX5 DNMT3A DOCK6 DYRK1A EIF4A3 EOGT EP300 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLNA GDF5 GHR GJA1 GLI3 GNAS GPC3 GPC4 GPX4 GRIP1 HBA1 HBA2 HDAC4 HEATR3 HOXA13 HOXD13 IFT122 IFT140 IHH IL2RG IL7R KAT6A KCNH1 KCNJ8 KCNN3 KMT2A LETM1 LIG4 LMBR1 LMNA LRP4 MAP3K20 MGP MIA3 MYCN NEK1 NELFA NOG NOTCH1 NOTCH2 NPR2 NSD2 NSDHL OFD1 PDE4D PHF6 PIGF PIGG PIGV PORCN PRKAR1A PRKG2 PTH1R PTHLH PUF60 RAB3GAP2 RAG1 RAG2 RBPJ RIPK4 RMRP RNU4ATAC ROBO1 ROR2 SALL1 SALL4 SF3B4 SHOX SLC26A2 SMAD4 SMARCA4 SMOC1 SOX9 SPECC1L SVBP TBL1XR1 TBX22 TBX3 TGDS TNNT3 TPR TRPV4 VAC14 WASF1 WNT10B WNT7A ZMIZ1 HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES ATP6V1B2 ATP7A BMPR1B CHD7 DYNC2H1 EOGT FANCD2 FGFR2 FIG4 GDF5 GJA1 GLI3 IFT140 KCNN3 LMBR1 LMNA MEGF8 NSDHL PITX1 SHH TRIO VAC14 XRCC2 HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS ATP7A BMPR1B CHD7 DYNC2H1 EOGT FIG4 GDF5 GLI3 KCNN3 LMBR1 LMNA PITX1 VAC14 HP_APLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS ATP6V1B2 BMPR1B FANCD2 FGFR2 FIG4 GJA1 IFT140 LMBR1 LMNA MEGF8 NSDHL SHH TRIO VAC14 XRCC2 HP_APLASIA_OF_METACARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_METACARPAL_BONES FANCD2 FIG4 GLI3 LMBR1 RECQL4 SALL4 SHH TBX3 TRIO VAC14 XRCC2 HP_APLASIA_OF_THE_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_BLADDER CC2D2A FREM2 ITGA6 ITGB4 PLEC HP_APLASIA_OF_THE_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_FINGERS ADA2 ATP6V1B2 BHLHA9 BMPR1B CHD7 COL25A1 CUL3 DLX5 DONSON EN1 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCI FANCL FGF10 FGFR2 FGFR3 FIG4 GATA1 GJA1 HEATR3 IFT140 KIF21A LMBR1 LMNA MEGF8 NEK1 NIPBL NSDHL PHOX2A PORCN PSMD12 RAD51 RAD51C RBM8A RECQL4 RFWD3 RIPK4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 SALL4 SF3B4 SHH SLX4 SMOC1 SON TBX3 TBX5 TRIO TSR2 TUBA1A TUBB2B TUBB3 VAC14 WNT10B WNT7A XRCC2 HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND ATP6V1B2 FGFR2 FIG4 GJA1 IFT140 LMNA MEGF8 NSDHL HP_APLASIA_OF_THE_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MUSCULATURE CHRNA1 CHRND CHRNG LMX1B MYMK MYMX PLXND1 REV3L TBX3 TBX5 TRPV4 HP_APLASIA_OF_THE_NASAL_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_NASAL_BONE ALX4 PDGFRB PPP1R12A SIX3 TONSL HP_APLASIA_OF_THE_OLFACTORY_BULB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_OLFACTORY_BULB CILK1 COL25A1 ERBB3 FGFR1 KIAA0586 KIF21A PHOX2A PROK2 PROKR2 SEMA3A TUBA1A TUBB2B TUBB3 ZSWIM6 HP_APLASIA_OF_THE_OVARY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_OVARY AR PMM2 PSMC3IP PTPN11 TP63 HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE MYMK MYMX PLXND1 REV3L TBX3 TBX5 HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES BMPR1B EOGT FIG4 GDF5 KCNN3 LMNA VAC14 HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND BMPR1B FANCD2 FIG4 LMBR1 SHH TRIO VAC14 XRCC2 HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL CBL CHD7 KRAS LZTR1 MRAS NRAS PTPN11 RAF1 RASA2 RIT1 RRAS RRAS2 SOS1 SOS2 SOX10 SPRED2 HP_APLASIA_OF_THE_ULNA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_ULNA ESCO2 LMBR1 TBX3 TBX5 WNT7A HP_APLASIA_OF_THE_UTERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_UTERUS AR ARID1B CPLX1 CTBP1 CYP11A1 CYP17A1 DHX37 FANCL FGFRL1 GATA3 LETM1 MINPP1 MYRF NSD2 PPP2R1A RBM8A TOE1 TP63 TXNDC15 WNT4 WNT7A HP_APLASTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_ANEMIA ACD ANAPC1 CD27 CLPB DNAJC21 EFL1 ELANE FANCB GATA2 GFI1 HOXA11 IFNG NBN NHP2 NOP10 PALB2 PRF1 RECQL4 SBDS SH2D1A SRP19 SRP54 SRP72 TCIRG1 TERC TERT TINF2 XIAP HP_APLASTIC_CLAVICLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_CLAVICLE ATP7A CBFB CDC45 CDC6 CDT1 CTSK FIG4 GMNN KIAA0586 ORC1 ORC4 ORC6 PIGL PTDSS1 PTH1R RNU12 RNU4ATAC RUNX2 SALL4 HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS FGF10 FGFR2 FGFR3 FOXL2 GJB2 GJB6 SLC25A24 SOX10 HP_APLASTIC_HYPOPLASTIC_TOENAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_TOENAIL AFF4 APC ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BCR BUD23 CKAP2L CLIP2 COL11A1 COL7A1 CPT2 CRKL CTC1 DKC1 DLL4 DNAJC30 DOCK6 DPF2 DPH1 DPH2 DSP DYNC2LI1 EED EIF4H EIF5A ELN EOGT EVC EVC2 EZH2 FGFR1 FKBP6 FTO GDF5 GLI1 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HOXA13 HRAS INPPL1 JUP KCNH1 KCNN3 KDM1A KRT14 KRT5 LIG4 LIMK1 LRP4 MAPK1 METTL27 MLXIPL MSX1 NCF1 NECTIN4 NHP2 NOG NOP10 NOTCH1 NPM1 NSD1 NSUN2 ODC1 PARN PIGF PORCN PPP1CB PPP2R5D PRKACA PRKACB RBPJ RFC2 RIPK4 RTEL1 SCO2 SET SHANK3 SHOC2 SHOX SLC35D1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 STX1A SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TERC TERT TINF2 TMEM270 TYMS USB1 VPS37D WLS WNT7A WRAP53 ZIC3 ZMYM2 HP_APNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEA ABCA3 ABCC9 ACADSB ACY1 ADAM22 ADGRG1 AFF4 AGRN AHDC1 AHI1 AIP ALPL AMER1 AP3D1 ARCN1 ARL13B ARL3 ARMC9 ARSB ARSL ASCL1 ASNS ASXL1 ATN1 ATP1A2 ATP1A3 ATP5F1A B9D1 B9D2 BCHE BICD2 BMP2 BRAF BRAT1 BTD BUB1 BUB1B BUB3 C2CD3 CA2 CACNA1A CACNA1C CACNA1I CACNA2D1 CAMK2B CBY1 CC2D2A CCDC47 CDC42BPB CDK13 CDKL5 CDON CEP104 CEP120 CEP290 CEP41 CEP57 CHAMP1 CHAT CHRNE CISD2 CLCN7 COL13A1 COL3A1 COLQ COQ2 CPLANE1 CPT2 CREBBP CRLS1 CRYAB CSPP1 CTNNB1 CTSD CTSK D2HGDH DCTN1 DDB1 DDC DISP1 DKK1 DLL1 DMD DNA2 DPAGT1 DPH1 DPH2 DPH5 DST ECHS1 EDN1 EP300 EXOC2 EXT2 FAM149B1 FARS2 FBN1 FBP1 FBXO28 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FLCN FOXH1 FXR1 GABBR2 GABRG2 GAS1 GBA1 GLI2 GLRA1 GLUL GNAI3 GNB2 GNE GNPTAB GPHN GPR101 GRB10 GRIK2 GRIN1 GRIN2A GSN GUSB H4C5 HACD1 HDAC4 HERC2 HMGCL HRAS HSPD1 HSPG2 HTRA2 HYLS1 IDS IDUA IFT74 IL6ST INPP5E KAT6B KATNIP KCNJ11 KCNQ2 KCNQ3 KIAA0586 KIAA0753 KIF5A KIF7 LAMB2 LARP7 LBX1 LIAS LIFR LRPPRC LRRC32 LTBP3 MAGEL2 MCCC1 MCM3AP MECP2 MED27 MINPP1 MKRN3 MKS1 MOG MOGS MRPS34 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTHFR MYL1 MYO1H MYO9A NAA10 NACC1 NADK2 NALCN NCAPG2 NDN NDUFA11 NDUFA2 NDUFA6 NDUFAF2 NDUFS1 NDUFS2 NDUFS4 NDUFS8 NDUFV1 NEB NEFH NEK1 NFIX NGLY1 NODAL NONO NOTCH3 NPAP1 NPHP1 NTNG1 NUP214 OCA2 OFD1 OPA1 P4HTM PCCA PCCB PCGF2 PCK1 PDE6D PDHA1 PEX13 PEX5 PHOX2B PI4KA PIBF1 PIGT PLA2G6 PLAA PLCB4 PLCH1 PLPBP POGZ PRKAG2 PRKAR1B PRMT7 PRNP PRPH PRPS1 PRR12 PRRT2 PSAP PSAT1 PTCH1 PTF1A PURA PWAR1 PWRN1 RAB11B RAI1 RARS2 RBM10 RECQL4 RERE RET RNF125 RPGRIP1L RPS6KA3 RUNX2 SATB2 SCN2A SCN4A SCN5A SCN8A SCO1 SEPSECS SFTPB SH3BP2 SHH SIM1 SIN3A SIX3 SKI SLC18A3 SLC1A3 SLC25A1 SLC25A12 SLC25A20 SLC2A1 SLC39A8 SLC5A7 SLC6A5 SLC6A9 SMC1A SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX10 SOD1 SOX9 SPOP SRPX2 STAG2 STAT2 STIL SUCLG1 SUFU SYT1 SYT2 TBR1 TCF4 TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TECPR2 TERT TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNFSF11 TNNT1 TOE1 TOGARAM1 TOPORS TRIP13 TRPV4 TSEN15 TSEN2 TSEN34 TSEN54 TSPYL1 TTC19 TWIST1 UNC80 USP7 VAMP1 VPS51 WFS1 ZBTB7A ZC4H2 ZIC2 ZMYM2 ZNF423 HP_APNEIC_EPISODES_IN_INFANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_IN_INFANCY ACADSB CC2D2A FBP1 FGF13 HACD1 NACC1 NDUFS8 PLA2G6 SCN4A SCN5A HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS AGRN CHAT CHRNE COL13A1 MYO9A PDHA1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1 HP_APPENDICULAR_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_HYPOTONIA CACNA1C CWF19L1 EXOSC9 FBXO28 FNIP1 GBA1 GEMIN5 GNPTAB GOSR2 LGI3 NAPB NRROS PEX3 PRPS1 SLC30A9 UNC80 HP_APPENDICULAR_SPASTICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_SPASTICITY AARS1 AASS ABCA12 ABCD1 ABHD16A ACER3 ACP5 ACTL6B ADAR ADD3 ADGRG1 AFF3 AFG3L2 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALG3 ALG9 ALS2 AMFR AMPD2 ANKLE2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APOE ARG1 ARL6IP1 ARSA ARSI ARX ASNS ATL1 ATN1 ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATP6V0A1 ATP6V1A ATPAF1 ATPAF2 ATRX ATXN10 AUH B4GALNT1 BCL11B BCOR BICD2 BSCL2 BTD C19orf12 CACNA1C CACNA1D CACNA1E CAMK2B CAMLG CAPN1 CCDC88C CCT5 CDC40 CLCN4 CLIC2 CLN8 CLTC CNP CNPY3 CNTNAP2 COA8 COASY COG2 COL4A2 COLGALT1 COQ5 COX15 CPT1C CSF1R CTNNA2 CTNNB1 CYB5A CYB5R3 CYP27A1 CYP2U1 CYP7B1 DARS1 DDHD1 DDHD2 DEGS1 DENND5A DNAJC19 DNM1 DNM1L DPH5 DSTYK DTYMK DYM DYNC1H1 EARS2 EDNRB EIF2AK1 EIF2S3 ELOVL1 ELOVL4 ELP2 ENTPD1 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 ERLIN2 EXOC2 EXOSC8 FA2H FAR1 FARS2 FBLN1 FBXO7 FCSK FLNA FLRT1 FUCA1 FUS GALC GAMT GAN GATAD2B GBA1 GBA2 GBE1 GCDH GFAP GFM2 GJA1 GJC2 GLB1 GLRX5 GLYCTK GM2A GOT2 GPT2 GRIA4 GRIN1 GSS GSX2 GTPBP2 GUF1 H4C5 HACE1 HECTD4 HEPACAM HIKESHI HMGCL HPDL HSD17B10 HSD17B4 HSPD1 HUWE1 IBA57 IDUA IFIH1 INPP5K INTS8 KANK1 KARS1 KCNC2 KCNJ6 KCNQ2 KDM5C KIDINS220 KIF1A KIF2A KIF5A KIF5C KLC2 KPNA3 KY L1CAM L2HGDH LAMB1 LIAS LIPT1 LIPT2 LMNB1 LMX1B LSM11 LYRM7 LYST MAG MAN2B1 MARS1 MCOLN1 MECP2 MED13L MFSD2A MICOS13 MINPP1 MOCS1 MOCS2 MRE11 MRM2 MRPS22 MT-ATP6 MT-ATP8 MTFMT MTHFR MTPAP MTRFR NAA10 NALCN NAXD NDE1 NDUFA13 NDUFA4 NDUFAF4 NDUFAF5 NEU1 NEXMIF NFU1 NIPA1 NSRP1 NT5C2 NTRK2 NUP54 NUP62 NUS1 ODC1 OPA1 OPA3 OSTM1 OTUD6B PAFAH1B1 PAX3 PCDH12 PDHX PET100 PEX16 PEX3 PGAP1 PHACTR1 PHGDH PI4KA PIGA PLA2G6 PLP1 PNP PNPLA6 POLG POLR3GL PPFIBP1 PPIL1 PPP1R15B PQBP1 PRDM13 PRDM8 PRNP PRPS1 PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PSMC1 RAB18 RAB3GAP1 RAB3GAP2 RANBP2 RARS1 RARS2 REEP1 REEP2 REPS1 RERE RNASEH2A RNASEH2B RNASEH2C RNF170 RNF220 RNU7-1 RTN2 SACS SAMHD1 SATB1 SATB2 SCN2A SCN3A SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEPSECS SETX SHMT2 SHQ1 SIGMAR1 SIX6 SLC16A2 SLC18A2 SLC19A3 SLC1A4 SLC25A15 SLC2A1 SLC30A10 SLC33A1 SLC35A2 SMC1A SOD1 SOX10 SOX2 SOX4 SPART SPAST SPATA5L1 SPG11 SPG21 SPG7 SPTAN1 SPTBN1 SPTLC1 SRPX2 STAMBP STUB1 STXBP1 SYNE1 SYNJ1 TACO1 TAF1 TANGO2 TBC1D20 TBCD TBCE TCEAL1 TECPR2 TFG THOC2 TMEM222 TMEM63C TMTC3 TMX2 TNR TOE1 TPK1 TRAPPC12 TRAPPC4 TREX1 TRMT10A TSEN15 TTC19 TTR TUBA1A TUBB3 TUBG1 UBAP1 UBE4A UCHL1 UNC80 USP8 VAMP1 VCP VPS37A VPS41 VPS53 VWA3B WARS2 WASHC5 WDR45 WDR45B WDR48 WDR62 WDR73 WWOX YIF1B ZFR ZFYVE26 ZFYVE27 ZNF668 HP_APRAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APRAXIA AARS2 ABCA7 ABCC8 ABCD1 ADGRG1 AFG3L2 AHI1 APOE APP APTX ARL13B ARL3 ARMC9 ARPC4 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATXN2 B9D1 B9D2 BCR BLTP1 BRAF C9orf72 CACNA1A CACNA1G CBY1 CC2D2A CDKL5 CDON CEP104 CEP120 CEP290 CEP41 CHCHD10 CHD1 CHD3 CHMP2B CLTC CPLANE1 CRKL CSF1R CSPP1 CWF19L1 DDOST DISP1 DLAT DLL1 DMPK DNM1L EBF3 EPM2A EXOSC3 FA2H FGF8 FGFR1 FOXG1 FOXH1 FOXP1 FOXP2 FRRS1L FUS GABBR2 GALK1 GALT GAS1 GBA1 GCK GLI2 GPAA1 GRID2 GRIN2A GRN H4C11 HECTD4 HTRA1 HYLS1 IFT172 IFT74 INPP5E INS ITPR1 KANSL1 KATNIP KCNH1 KCNJ11 KDM1A KDM6B KIAA0586 KIAA0753 LAMA1 MAPK1 MAPT MAST1 MECP2 MED13 MKS1 MRE11 MYO9A NGLY1 NHLRC1 NKX2-1 NODAL NONO NPHP1 NPTX1 NTNG1 OFD1 PACS1 PANK2 PDE6D PDX1 PEX10 PEX2 PEX6 PGAP2 PGAP3 PI4KA PIBF1 PIGL PIGO PIGV PIGW PIGY PIK3R5 PLA2G6 PLCH1 PLP1 PMPCA PNKP PNPT1 POU4F1 PRKAR1B PRNP PSEN1 PSEN2 PTCH1 PTEN PURA RAI1 RNF135 RORA RPGRIP1L SETX SH2B1 SHH SIX3 SLC1A3 SLC25A15 SLC2A1 SLC30A9 SLC6A8 SMC1A SMPD1 SNX14 SORL1 SOX3 SPART SPG21 SPR SQSTM1 SRCAP SRPX2 STAG2 STAT3 STIL STUB1 SUFU SYNJ1 TARDBP TBK1 TBP TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TIMM8A TMEM106B TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNR TOE1 TOGARAM1 TOMM40 TPP1 TRAPPC11 TREM2 TREX1 TTC19 TUBA1A TUBB2B TUBB3 TUBB4A TYROBP UBE3A UFC1 USP7 VCP VPS11 XRCC1 XRCC4 YME1L1 ZC4H2 ZIC2 HP_AQUEDUCTAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AQUEDUCTAL_STENOSIS AP1S2 CHD7 CLCN3 DONSON FANCB FGFR1 FGFR2 GON7 L1CAM LAGE3 NF1 NUP107 NUP133 OSGEP PLCH1 ROBO1 SEMA3E SF3B4 SLC12A6 SMARCC1 TP53RK TPRKB TTC26 WDR4 WDR73 YRDC ZIC3 HP_ARACHNODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNODACTYLY ABL1 ACTA2 ACTG2 AEBP1 ALG14 AMER1 ARVCF ASPH ASXL3 ATP2B1 B3GALT6 B4GALT7 BCR BGN BMP1 BMP15 BNC1 C1R CBS CHRNG CHST14 CIC CNTN1 COL11A1 COL2A1 COMT CPLX1 CRKL CTBP1 CTSC CYP26B1 DLG4 DPAGT1 DSE EFEMP2 ELN FARSA FBLN5 FBN1 FBN2 FGFR2 FGFR3 FLNA FOXE3 FSHR GP1BB H3-3B HERC1 HEY2 HIRA HNRNPH1 HNRNPH2 IPO8 JMJD1C KANSL1 LAGE3 LETM1 LOX MAPK1 MAT2A MED12 MFAP5 MRPS22 MSH4 MTM1 MYH11 MYLK NALCN NARS1 NELFA NKAP NPR2 NPR3 NR5A1 NSD2 NUP107 OSGEP OTUD6B PAPPA2 PEPD PHF8 PIEZO2 PIGG PLOD1 POLR3H POR PQBP1 PRDM5 PRKG1 PSMC3IP PTCH1 PTCH2 PYCR2 RECQL RREB1 SATB2 SCARF2 SEC24C SH2B1 SIN3A SKI SLC2A10 SMAD2 SMAD3 SMAD4 SMARCE1 SMS SON SOX6 SPIDR STUB1 SUFU TBX1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 UBE3B UFD1 UNC80 UPF3B VPS13B XYLT2 YRDC ZDHHC9 ZEB2 ZNF469 ZSWIM7 HP_ARACHNOID_HEMANGIOMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNOID_HEMANGIOMATOSIS DLST FH GNAQ KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL HP_AREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA AARS1 ABHD5 ACER3 ACO2 ACOX1 ACTA1 ADCY6 AGRN AIFM1 ALDH18A1 ALDH4A1 ALG1 ALG14 ALG2 ALG6 AMPD1 ANXA11 APTX ARL6IP1 ARSI ASAH1 ASCC1 ATP11A ATP1A1 ATP1A2 ATP1A3 ATP6AP2 ATXN1 ATXN3 B3GALNT2 B4GAT1 BICD2 BIN1 CACNA1A CADM3 CARS2 CAV3 CCDC47 CD59 CDK5 CFL2 CHAT CHCHD10 CLPB CNTN1 CNTNAP1 CNTNAP2 COASY COG7 COL12A1 COL13A1 COL25A1 COL4A1 COLQ COX6A1 CRPPA CRYAB DAG1 DCAF8 DES DHX16 DKK1 DNAJB2 DNAJC3 DNM1L DNM2 DPAGT1 DPYD DST DYSF EGR2 ENTPD1 ERBB3 ERCC6 ERCC8 ERGIC1 ERLIN1 FAM111B FBLN5 FBXO28 FGD4 FHL1 FIG4 FKRP FKTN FLVCR1 FXN FXR1 GAA GAN GARS1 GBE1 GBF1 GDAP1 GEMIN5 GFPT1 GIPC1 GJB1 GLE1 GMPPB GNB4 GNE GOSR2 HACD1 HADHA HADHB HARS1 HINT1 HK1 HNRNPK HSD17B4 HSPB1 HSPB3 HSPB8 IBA57 IFRD1 IGHMBP2 IL6ST INF2 INPP5K ISCU ITGA7 ITPR3 JAG1 JPH1 KARS1 KBTBD13 KCNJ18 KCNK9 KIF1A KIF1B KLC2 KLHL41 KLHL9 LAMA2 LAMB2 LARGE1 LGI4 LIFR LMNA LPIN1 LRP12 LRSAM1 MAG MAP3K20 MARS1 MCM3AP MED25 MEGF10 MFN2 MME MORC2 MPV17 MPZ MRE11 MT-TT MTM1 MTMR14 MTRFR MTTP MYF6 MYH14 MYL1 MYL2 MYO1H MYO9A MYOT MYPN NARS2 NDRG1 NDUFAF2 NEB NEFL NOTCH2NLC OCRL OPA1 OPA3 ORAI1 PAX7 PDK3 PDSS1 PDXK PEX1 PEX10 PEX11B PEX12 PEX14 PEX2 PEX3 PEX5 PGM3 PIEZO2 PIGB PIK3R5 PLA2G6 PLEC PLEKHG4 PLEKHG5 PMM2 PMP2 PMP22 PNKP PNPLA2 PNPLA6 PNPT1 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1R21 PPP2R5D PRNP PRORP PRPS1 PRX PSMC1 PYROXD1 RAB7A RAI1 REEP1 RETREG1 RFC1 RILPL1 RMND1 RNASEH1 RNF170 RRM2B RXYLT1 RYR1 SACS SAR1B SBF1 SBF2 SCN9A SCO2 SCYL2 SELENON SETX SH3TC2 SIGMAR1 SIL1 SLC12A6 SLC18A3 SLC1A3 SLC25A1 SLC25A21 SLC25A4 SLC25A46 SLC52A2 SLC5A6 SLC5A7 SLC9A1 SMN1 SMN2 SNAP25 SNAP29 SOX10 SPEG SPG11 SPTBN4 SPTLC1 SQSTM1 STAC3 STIM1 SUCLG1 SURF1 SYNE1 SYT2 TBCD TBCK TCAP TDP1 TECPR2 TFG TIMM50 TNNT1 TOR1A TPM2 TPM3 TRIM2 TRIM32 TRIP4 TRPV4 TTN TTPA TWNK TYMP UBA1 UGDH VAMP1 VAPB VCP VPS13A WARS1 WNK1 XK XRCC1 YARS1 ZC4H2 HP_AREFLEXIA_OF_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_LOWER_LIMBS AARS1 ACOX1 ALDH18A1 ARL6IP1 ATP6AP2 ATXN3 BIN1 CADM3 CCDC47 COASY CRYAB DES DNAJC3 DNM2 DYSF ERLIN1 FAM111B FBLN5 FXN GAN GBE1 GJB1 GLE1 GNB4 GNE HARS1 HINT1 HSPB1 HSPB3 HSPB8 IGHMBP2 IL6ST ITPR3 JAG1 KIF1A KLC2 KLHL9 LIFR MAG MCM3AP MFN2 MORC2 MRE11 MTMR14 MYF6 MYH14 NEFL OPA1 OPA3 ORAI1 PDK3 PEX10 PGM3 PLEKHG4 PMP2 PMP22 PNPT1 POLG POLG2 PRPS1 PSMC1 RAB7A RAI1 REEP1 RNASEH1 RRM2B RYR1 SACS SBF2 SIGMAR1 SLC25A4 SLC5A6 SLC9A1 SMN1 SMN2 SPG11 SQSTM1 STIM1 TCAP TOR1A TWNK TYMP VCP VPS13A WARS1 XK HP_AREFLEXIA_OF_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_UPPER_LIMBS CLPB DKK1 IGHMBP2 JAG1 SBF2 SLC9A1 XK HP_ARM_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARM_DYSTONIA ALS2 ANO3 AOPEP ATP1A3 DLAT FTL FUS KMT2B SIGMAR1 SPG11 SPTLC1 SYNE1 VPS16 HP_ARRHINENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARRHINENCEPHALY ADAR ARVCF ATP6V1B2 CHD7 COMT CPLANE1 FANCB FIG4 FUZ GLI3 GP1BB HIRA HYLS1 IFIH1 JMJD1C KIF14 KIF7 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RREB1 SAMHD1 SEC24C SF3B4 SMOC1 TBC1D24 TBX1 TCTN3 TREX1 UFD1 VAC14 VANGL1 HP_ARTERIAL_DISSECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_DISSECTION COL1A1 COL3A1 COL5A1 COL5A2 IPO8 PLOD1 SMAD3 TGFBR1 TGFBR2 HP_ARTERIAL_RUPTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_RUPTURE COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14 PLOD1 PLOD3 HP_ARTERIAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_STENOSIS ABCA1 ABCC6 ABCG5 ABCG8 ACTA2 ADA2 AEBP1 AGXT APOA1 APOA2 APOB APOE ARL6IP6 ATP7A BAZ1B BCL7B BEST1 BRCC3 BUD23 CELA2A CEP19 CLIP2 COL3A1 CYP27A1 CYP7A1 DNAJC30 EIF4H ELN ENPP1 EPHX2 ERCC6 ERCC8 ESR1 F12 FBN1 FIG4 FKBP6 FOXE3 GEMIN4 GHR GNA11 GPIHBP1 GTF2I GTF2IRD1 GTF2IRD2 HEY2 HLA-B HTRA1 IDS IL12B JAG1 JAK2 LDLR LDLRAP1 LIMK1 LIPC LMNA LOX LRP6 MAT2A MAX MEF2A METTL27 MFAP5 MLX MLXIPL MPL MYH11 MYLK NCF1 NF1 NOTCH3 PCNT PCSK9 PNPLA2 POU3F4 PPARG PPP1R17 PRKG1 RET RFC2 SDHB SDHD SERPIND1 SLC2A10 SMAD2 SMAD3 SMAD4 SMPD1 STAT1 STX1A TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 THPO THSD4 TMEM127 TMEM270 TOM1 VAC14 VHL VPS37D XYLT1 XYLT2 YY1AP1 ZNF687 HP_ARTERIAL_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_THROMBOSIS AKT1 C4A CALR CBS CCR1 ERAP1 F2 FAS FCGR2C HLA-B HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KLRC4 MEFV MPL MYH7 P4HA2 PIGA PROS1 PTEN PTPN22 SERPINC1 SH2B3 STAT4 TET2 THPO TLR4 TP53 UBAC2 HP_ARTERIA_LUSORIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIA_LUSORIA DDX6 KNSTRN NKX2-6 PIK3CD PLD1 PLXND1 HP_ARTERIOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOSCLEROSIS ABCA1 ABCC6 ABCG5 ABCG8 ACTA2 AGXT ALMS1 ANGPTL6 ANTXR1 APOA1 APOA2 APOA5 APOB APOE ASAH1 BANF1 BRCC3 CAT CELA2A CEP19 CETP COL3A1 CSF2RA CSF2RB CYP27A1 CYP7A1 ELN ENG ENPP1 EPHX2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 FBN1 FOXE3 GGCX GHR GLB1 GPIHBP1 HEY2 HGD HLA-DRB1 HTRA1 LCAT LDLR LDLRAP1 LIPA LIPC LMNA LOX LPL LRP6 MAT2A MEF2A MFAP5 MYH11 MYLK NEU1 NPC1 NPC2 PCSK9 PIK3CG PNPLA2 PPARG PPP1R17 PRKG1 SC5D SERPIND1 SMAD2 SMAD3 SMAD4 SMARCAL1 SMPD1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TNXB WRN XYLT1 XYLT2 ZMPSTE24 ZNF687 HP_ARTERIOVENOUS_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_FISTULA ACVRL1 AGGF1 COL1A1 COL3A1 COL5A1 COL5A2 ENG EPHB4 GDF2 RASA1 SMAD4 HP_ARTERIOVENOUS_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_MALFORMATION ACVRL1 ADAMTS3 AGGF1 AKT1 ARHGAP31 ARL6IP6 BRCA1 BRCA2 BRIP1 CAV1 CBS CCBE1 COL1A1 COL3A1 COL5A1 COL5A2 DLL4 DOCK6 ENG EOGT EPHB4 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 GDF2 GLMN GNA11 GNAQ GUSB IL6 KRAS MAD2L2 MNX1 NOTCH1 PALB2 PIK3CA PTEN RAD51 RAD51C RASA1 RBPJ RFWD3 SLX4 SMAD4 TEK UBE2T XRCC2 HP_ARTHRALGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA ABCC6 ABCG5 ABCG8 ADA2 AIP ANKH ANKRD55 ANTXR2 AP1S3 APC APOB ARSB ASAH1 ASPN ASXL1 ATP7B BAZ1B BCL11A BCL7B BMP6 BUD23 C1QB C1R C1S C4A CAV1 CBL CCN2 CCN6 CCR1 CCR6 CD19 CD244 CD247 CD55 CD81 CHST11 CHST3 CIITA CLCNKB CLIP2 COL10A1 COL11A1 COL11A2 COL1A1 COL2A1 COL5A1 COL5A2 COL9A1 COMP COPA CR2 CTLA4 CTNNB1 DDB2 DDRGK1 DNAJC30 DSE EIF4H ELN ENPP1 EPOR ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 F8 FAS FKBP6 FTL GLA GNB2 GNPTG GPR101 GTF2I GTF2IRD1 GTF2IRD2 HBB HBG1 HBG2 HFE HGD HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HPGD ICOS IFNGR1 IGHG2 IGKC IL10 IL12A IL12A-AS1 IL12B IL1RN IL23R IL2RA IL2RB IL36RN IL6 IRAK1 IRF2BP2 IRF4 IRF5 JAK2 KIF7 KIT KLF1 KLRC4 LACC1 LBR LDLR LDLRAP1 LEMD3 LIMK1 LMNA LMNB2 LPIN2 MAFB MATN3 MEFV METTL27 MFN2 MIF MLX MLXIPL MMP2 MPL MS4A1 MSMO1 MVK MYH3 NCF1 NFKB1 NFKB2 NFKBIL1 NLRC4 NLRP12 NLRP3 NOD2 NOTCH2 OTULIN P4HA2 PCSK9 PHEX PIGT PKDCC PLCG2 POMP PRKCD PRTN3 PSMB4 PSMB8 PSMB9 PSTPIP1 PTH1R PTPN2 PTPN22 RFC2 RNU4ATAC RUNX1 SAT1 SEPTIN9 SFRP4 SLC12A3 SLC22A4 SLC26A2 SLC40A1 SLCO2A1 SMAD2 SMPD1 SOST SPP1 SRSF2 STAT4 STING1 STX1A TBL2 TET2 TLR4 TLR7 TMEM270 TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFSF12 TNXB TRAPPC2 TREM2 TREX1 TRPS1 TYROBP UBA1 UBAC2 UFSP2 VCP VPS37D XPA XPC HP_ARTHRALGIA_OF_THE_HIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA_OF_THE_HIP B2M COL2A1 COL9A1 COL9A2 COL9A3 COMP MATN3 SLC26A2 TRAPPC2 HP_ARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRITIS ABCG8 ACAN ACP5 ADA2 ADAR AEBP1 AGA AIP ANK1 ANKH ANKRD55 AP1S3 APOE ARVCF ASAH1 ASPN ATP7B BANK1 BLK BLNK BMP6 BTK C1QB C2orf69 C4A C4B CANT1 CASP10 CAV1 CCN2 CCN6 CCR1 CCR6 CD244 CD247 CD79A CD79B CFI CIITA CLCN7 CLCNKB COL11A1 COL11A2 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COMP COMT COPA CR2 CTLA4 DCLRE1C DDRGK1 DNAJB11 DNASE1 DNASE1L3 ELF4 EMILIN1 EPB42 EPCAM ERAP1 ETS1 EXT1 EXT2 F8 F9 FAS FASLG FBN1 FCGR2A FCGR2B FCGR3B FGF10 FGFR2 FGFR3 FOXP3 FRZB G6PC1 GBA1 GCH1 GDF5 GHR GJB2 GJB6 GLA GNAS GP1BB GPR101 HFE HGD HIRA HJV HLA-B HLA-C HLA-DRB1 HNF1B HOXD10 HPGD HPRT1 IDS IFIH1 IFNGR1 IGHG1 IGHG2 IGHM IGKC IGLL1 IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IL36RN IL6 IMPDH2 IRAK1 IRF4 IRF5 ITGAM JAZF1 JMJD1C KIAA0319L KIF22 KLRC4 KNSTRN KRT5 LACC1 LBR LMNA LMX1B LRBA LRP6 LRRC8A LSM11 MATN3 MECP2 MEFV MIF MIR140 MLX MMP13 MMP14 MMP2 MTHFD1 MUC1 MVK MYD88 MYH14 NFKBIL1 NGF NLRP12 NLRP3 NOD2 NR4A2 NTRK1 OCRL P4HA2 PDCD1 PERCC1 PFKM PHEX PIK3CD PIK3R1 POFUT1 POGLUT1 PRG4 PRKCD PRPS1 PSENEN PSMB4 PSMB9 PSTPIP1 PTEN PTPN2 PTPN22 PXK RAG1 RAG2 RASGRP1 RNASEH2A RNASEH2B RNASEH2C RNF168 RNU7-1 RREB1 SAMHD1 SAT1 SCARB2 SEC24C SEC61A1 SH3KBP1 SLC12A3 SLC22A4 SLC26A2 SLC37A4 SLC39A7 SLC40A1 SLC4A1 SLCO2A1 SMAD2 SMAD3 SPI1 SPP1 SPTA1 SPTB STAT4 STT3A SYK TBX1 TCF3 TF TFR2 TGFB3 THSD4 TLR4 TLR7 TNFAIP3 TNFRSF11B TNFRSF1A TNFSF4 TNIP1 TOM1 TRAPPC2 TREX1 TRPS1 TRPV4 UBA1 UBAC2 UBE2L3 UFD1 UFSP2 UMOD VPS13A WAS WIPF1 ZMPSTE24 ZNF687 HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA ABCC8 ACTA1 ADGRG6 AGRN AGTPBP1 ALG3 ASCC1 AUTS2 BICD2 BLTP1 CACNA1E CDK5 CEP55 CFL2 CHAT CHMP1A CHRNA1 CHRNE CHRNG CHST14 CLCN3 CNTNAP1 COL13A1 DHCR24 DOK7 DSE ERBB3 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 EXOSC3 EXOSC8 EXOSC9 FAM20C FBN2 FKBP10 GBA1 GBE1 GCK GFM2 GFPT1 GLE1 GNB2 GNPTAB HSPG2 IBA57 INS ITGB4 KAT6B KBTBD13 KCNJ11 KIDINS220 KIF14 KIF1A KIF21A KIF5C KLHL40 KLHL41 LAMA5 LGI4 LMNA LMOD3 LZTR1 MAGEL2 MTRFR MUSK MYBPC1 MYH3 MYH8 MYO9A MYOD1 MYPN NALCN NEB NEK9 NUP88 OTUD5 PDX1 PI4KA PIEZO2 PIGS PIP5K1C PLEC PLOD2 PLXND1 PPP3CA RAPSN REV3L RFT1 RIPK4 SCYL2 SHPK SLC18A3 SLC25A1 SLC25A46 SLC35A3 SLC5A7 SLC6A9 SLC9A6 SMPD4 SNAP25 SOX10 STAC3 STAT3 SYNE1 SYT2 TBCD TNNI2 TOR1A TPM2 TPM3 TRIP13 TRIP4 TRPV4 TSEN54 TUBA1A UBA1 VAMP1 VIPAS39 VPS33B VRK1 ZBTB42 ZC4H2 ZMPSTE24 ZNF335 ZNHIT3 HP_ARTHROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROPATHY ALPL ANKH ATL1 ATL3 BMP2 BMP6 CCN6 CD244 CHST3 CIITA COL11A1 COL2A1 DMP1 DNASE2 ELP1 ENPP1 F8 HAMP HFE HGD HJV HPGD IL10 IL36RN IL6ST MEFV MMP14 MMP2 NFKBIL1 NGF NLRP1 NLRP3 NOD2 NTRK1 PIK3CD PRG4 PTPN22 SAMHD1 SLC22A4 SPTLC1 SPTLC2 STAT3 TNFAIP3 TNFRSF1A TRPV4 HP_ASCENDING_TUBULAR_AORTA_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM ACTA2 ADAMTS19 ATP6V1A B3GALT6 BGN BRF1 COL3A1 FBLN5 FBN1 FLNA FMR1 GJA5 GJA8 HLA-B IL12B IPO8 LMNA LOX MED12 MLX MYH11 NODAL SMAD3 TGFB2 TGFBR2 THSD4 ZMPSTE24 HP_ASCITES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCITES ABCB11 ABCB4 ABCC6 ACTN4 ADAMTS3 AGGF1 ALG8 ALG9 ARHGAP31 ARL6IP6 ASAH1 ASXL1 ATP6AP2 ATP7B ATP8B1 BMP2 BUB1 BUB1B BUB3 CALR CBL CCBE1 CD27 CD55 CEP57 CYBB DCDC2 DEF6 DGUOK DIS3L2 DLL4 DNASE1L3 DOCK6 DZIP1L EIF2AK3 EIF5A ENPP1 EOGT EPHB4 ERCC4 EWSR1 F5 FAH FAM111A FARSB FAT4 FH FLI1 FOCAD FSHR GALT GBA1 GBE1 GIMAP5 GNA11 GNB2 GPR35 GRIP1 GUSB HFE HSD17B4 IL12A IL12RB1 IRAK1 IRF5 JAK2 KIF20A KRT18 LARS2 LBR LCK LIPA LTBP4 MDFIC MEFV MMEL1 MPV17 MRPS22 MST1 MTO1 MYBPC3 NEU1 NOTCH1 NPC1 NPC2 NR1H4 OSTM1 PIEZO1 PIGA PKHD1 PLVAP POLG POU2AF1 PRG4 PRKAG2 PRKAR1A PRKCSH PTH1R RBPJ RFX6 RHBDF2 RHD RNU7-1 RUNX1 SAT1 SCARB2 SCN4A SEMA4D SLC17A5 SMPD1 SOX18 SP110 SPIB SPP1 SRSF2 STAT4 TAPT1 TCF4 TET2 TFAM THSD1 TMEM67 TNFSF15 TNPO3 TRIM37 TRIP13 TSC1 TSC2 TTC26 UBR1 USP18 WDR35 WT1 HP_ASPIRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION ADGRG1 ADNP ARV1 ATP1A2 ATP1A3 ATXN8OS CACNA1A CREBBP DCX DHX16 DOLK DST EP300 FBXO28 FOXG1 GLRA1 GM2A GNB2 GPHN GRB10 GRM7 HEXA LAMA2 LRP12 MATR3 MID1 NAA10 PI4KA SEC31A SLC1A3 SRPX2 HP_ASPIRATION_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION_PNEUMONIA ACTA1 AFF4 ARID1A ARID1B ARID2 ASAH1 ATP6V0A1 ATP6V1B2 CDON COL4A5 COL4A6 CRLF1 CSPP1 DISP1 DLL1 DPF2 EPM2A FGF8 FGFR1 FIG4 FOXH1 GAS1 GBA1 GIPC1 GLB1 GLI2 GRHL3 HACD1 HLA-DQA1 HLA-DQB1 IGBP1 ITGA7 KAT6A KDM6A KIAA0586 KMT2D KNSTRN LMNB1 LONP1 LRIF1 LRP12 MAP3K20 MARS2 MID1 MYL2 MYO1H NADK2 NDUFA6 NFIX NHLRC1 NODAL NOS1 NOTCH2NLC NTRK1 PAFAH1B1 PANK2 PDHA1 PIGA PIGN PIK3CD PLA2G6 PLCH1 PMM2 PTCD3 PTCH1 PURA RILPL1 SAMD9 SDHD SELENON SHH SIX3 SLC25A24 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SNAP29 SOX11 SOX4 SP110 STAG2 STIL TAF1 TBC1D24 TDGF1 TFG TGIF1 TIMM8A TPM2 TPM3 UBB ZIC2 HP_ASTERIXIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTERIXIS ABCB11 ABCB4 ATP8B1 NR1H4 SLC25A13 HP_ASTHENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHENIA ALAS2 DGUOK LBR MAN2B1 MTHFD1 NSDHL PIGA PLEKHM1 PRORP SERPINA6 HP_ASTHMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHMA ADA AFF4 AGR2 ALG9 ALMS1 ALOX5 ARL6 ARSL ARVCF BBS1 BCL11B C4B CARD10 CARD11 CARMIL2 CASP8 CCDC28B CCL11 CDC42BPB CDKN1C CDON CDSN CEACAM3 CEACAM6 CFTR CLCA4 COMT COX4I2 CREBBP DCTN4 DDX41 DISP1 DLL1 DOCK8 DPP9 EDNRA ELOVL4 EP300 ERCC2 FCGR2A FGF8 FGFR1 FLG FOCAD FOXH1 FOXP2 GAS1 GCLC GGT1 GLI2 GNB1 GNB2 GP1BA GP1BB GP9 GRHL2 GSTM3 HFE HIRA HLA-G HMGA2 HMOX1 HNMT IDS IFT172 IGF2 IGHG2 IGKC IL13 IL21R IL4R IL6ST IPO8 JAK1 JMJD1C KCNN4 LIFR LIG4 LMX1B LRBA MIA3 MIF MS4A2 MTOR MUC7 NEK9 NFKB2 NKX2-1 NOD2 NODAL NSUN2 ODAD3 ODC1 PEPD PEX5 PGM3 PLA2G7 PLAG1 PLCG2 PTCH1 PTGER2 RELB RFX7 RIC1 RREB1 SCGB3A2 SCN4A SDHD SEC24C SERPINA1 SHH SIK3 SIX3 SLC11A1 SLC26A9 SLC27A4 SLC6A14 SLC9A3 SPINK5 STX1A STXBP1 SUFU TALDO1 TBCK TBX1 TBX21 TDGF1 TGFB1 TGIF1 TNF TRAIP TTC26 UFD1 UNC45A USP7 VPS51 WAC WDR11 ZIC2 ZNF699 HP_ASTIGMATISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTIGMATISM AARS1 ADNP AEBP1 AGBL5 ALDH3A2 ANKRD11 AP3D1 APC2 ARCN1 ARHGEF2 ARID1B ARL6 ARPC4 ARSG ASH1L BAP1 BBS1 BBS9 BLOC1S3 BRCA1 BRCA2 BRIP1 C1QBP CACNA1F CAMK2B CAMSAP1 CAMTA1 CARS1 CC2D2A CCDC28B CCDC47 CEP78 CHD3 CHD4 CHMP1A CHRDL1 CHST14 CHST6 CLDN11 CLDN16 CLDN19 CLRN1 CNGA3 COL17A1 COL1A2 COL25A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 DNAJC21 DPAGT1 DPYD DSE DYRK1A EBF3 EDEM3 EMC1 ERCC2 ERCC3 ERCC4 EXOSC5 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW7 FIBP FLNA GALNT2 GATAD2B GLRB GNPTAB GPR143 GRHL2 GRIA1 GTF2E2 GTF2H5 H1-4 HARS1 HDAC4 HK1 IFT172 INTS1 KAT6A KCNV2 KDM5B KIDINS220 KIF11 KMT2B KRAS LIG4 LMBRD2 LMX1B MAD2L2 MAG MAN2B1 MAP3K7 MAPK8IP3 MBD5 MBTPS2 MIR184 MPLKIP MT-TS2 MYO1H NEUROD2 NFIX NIPBL NOG NSD1 OTUD5 OVOL2 P4HTM PACS2 PALB2 PAX2 PBX1 PDZD8 PIEZO2 PIGQ PIGT PIK3R1 PITX2 POGZ POLR3GL PPP1R12A PPP2R5D PRKAR1B PRMT7 RAD51 RAD51C RECQL4 RERE RFWD3 RHOA RNF113A RNF2 RNU4ATAC ROBO3 SCUBE3 SETBP1 SETD2 SETD5 SHOC2 SLC25A24 SLC2A10 SLC38A8 SLC39A8 SLC4A11 SLX4 SMARCAL1 SMG8 STXBP1 TARS1 TBC1D2B TBC1D7 TBCE TCEAL1 TCF4 TEAD1 TFE3 TGFBI TNPO2 TRIM37 TUB TYR UBE2T UBE3B USP9X VARS1 VSX1 WAC XRCC2 YY1 ZBTB7A ZEB1 ZEB2 ZFHX4 ZMIZ1 HP_ASTROCYTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOMA APC APC2 BRCA2 CDKN2A CHEK2 ERBB2 FGFR1 IDH1 IDH2 IFNG MDM2 MLH1 MSH3 MSH6 NF1 NF2 NSD1 PMS2 POT1 SETD2 TP53 TSC1 TSC2 HP_ASTROCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOSIS ADAR CHMP2B ERCC6 ERCC8 GRN LAMA2 MAPT MT-ATP6 MTOR NUP54 NUP62 POLG PRNP PSEN1 SLC30A10 SQSTM1 STRADA TMEM106B TREM2 TSC1 TSC2 VCP HP_ASYMMETRIC_GROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_GROWTH ACTB AGGF1 AKT1 AKT2 ARL6IP6 BPTF CASZ1 CDKN1C COL2A1 CTSK DACT1 DMP1 DNMT3A EBP EFNB1 ENPP1 EXT1 EXT2 FN1 GABRD GNA11 GNAQ GRB10 H19 HMGA2 HNF1B HOXD13 HRAS HSPG2 IGF2 IKBKG KAT6A KCNAB2 KCNQ1 KCNQ1OT1 KRAS LEMD3 LUZP1 MAPK1 MAPRE2 MMP23B MNX1 NRAS PDPN PIK3CA PLAG1 PORCN PRDM16 PRKCZ PSMD12 PTEN PTHLH RASA1 RERE RNF125 SALL1 SATB2 SETD5 SKI SPEN TONSL TRPV4 TUBB UBE4B USP9X ZNF699 HP_ASYMMETRIC_SEPTAL_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY CAV3 FHOD3 GNS HGSNAT KLHL24 MYH6 MYH7 MYL2 MYLK2 MYOZ2 NAGLU PRKAG2 SGSH HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS CCL2 FUZ TBXT VANGL1 VANGL2 HP_ASYMMETRY_OF_THE_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_EARS ASH1L BCOR GAD1 PUF60 RAB3GAP2 SMS HP_ASYMMETRY_OF_THE_THORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_THORAX AKT1 AMER1 ANTXR1 CDC42BPB H19 HERC1 IGF2 KCNQ1OT1 MESD PTEN RMRP HP_ATELECTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATELECTASIS ABCA3 AGR2 ARVCF ASAH1 B3GALT6 C1QB CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 COMT CXCR4 CYBB DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GP1BB HIRA HYDIN IL6ST JMJD1C LAMA2 LRRC56 LTBP4 MCIDAS NEK10 NHLRC2 NKX2-1 NME5 NME8 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PAX3 PLEC RIPK4 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SEC24C SFTPB SFTPC SPAG1 SPEF2 STAT3 STK36 TBX1 TP73 TSC1 TSC2 TTC12 UFD1 ZMYND10 HP_ATHETOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATHETOSIS ABCC8 ABHD16A ACO2 ADAR ADCY5 ALDH18A1 AP1S2 ARX ATG7 ATM ATN1 ATP1A2 ATP1A3 AUH CACNA1A CACNA1B CACNA1D CASK CDKL5 CERS1 CHKA CLPB COX20 CUX2 CYB5A CYB5R3 DCAF17 DDC DLAT DMXL2 DNM1L DPYSL5 EIF2AK2 ELP2 EPRS1 ERCC2 ERCC6 FBXL4 FBXO28 FOXG1 FOXRED1 FRRS1L FTL GABRG2 GAMT GCDH GCH1 GJC2 GNAO1 GNAS GON7 GRIK2 GRIN1 GRM7 GTPBP2 GUF1 HCFC1 HPRT1 HSD17B10 HSPD1 IREB2 IRF2BPL KCNA1 KIF5A MECP2 MECR MED23 MICOS13 MICU1 MMUT MRE11 MRPS34 MT-ATP6 NADK2 NDE1 NDUFA1 NDUFA13 NDUFA9 NDUFAF5 NEUROD2 NGLY1 NKX2-1 NUP54 NUP62 OPA3 PANK2 PC PDE2A PDGFB PDGFRB PDHA1 PEX2 PHGDH PIGN PIGP PIGQ PIGV PIK3R5 PLP1 PNKD PNKP PNPT1 POLG POLR3K POU3F3 PRRT2 PTS PYCR1 QDPR RBM10 RNASET2 SCN1A SCN1B SCN2A SCN8A SEPSECS SETX SH2B1 SHQ1 SIK1 SLC13A5 SLC16A2 SLC17A5 SLC1A3 SLC20A2 SLC25A22 SLC25A42 SLC2A1 SLC30A9 SLC32A1 SLC46A1 SLC6A8 SMPD1 SPG21 SPR SPTBN4 ST3GAL5 STXBP1 SUCLA2 SUCLG1 SUOX SYT1 TIMM50 TMEM106B TMEM151A TNR TOE1 TRAPPC11 TRIM8 TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TUBB4A TWNK UBA5 UBQLN2 UQCRQ VPS13A WARS2 XPA XPR1 YME1L1 HP_ATLANTOAXIAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_ABNORMALITY ARSL B3GALT6 CHST14 COL2A1 COMP DDR2 DSE DYM FKBP14 GATA1 GNPTAB NFIX POLR3A RMRP HP_ATLANTOAXIAL_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_DISLOCATION B3GALT6 CHST14 COMP DSE GNPTAB NFIX RMRP HP_ATLANTOAXIAL_INSTABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_INSTABILITY ARSL COL2A1 DDR2 DYM FKBP14 GATA1 HP_ATONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATONIC_SEIZURE ADGRG1 ADGRV1 AKT3 ALDH4A1 ALDH7A1 ALG13 AP2M1 ARFGEF1 ARX ASAH1 ATP6AP2 CACNA1A CAMK2B CASK CDKL5 CEP85L CHD2 COX8A CSNK2A1 CTNNA2 CUX2 DMXL2 DNM1 DOCK7 DOHH DPM1 DYRK1A EPM2A FRRS1L FZR1 GABRA1 GABRB3 GABRD GABRG2 GAMT GNAO1 GNB1 GNB2 GOSR2 GPAA1 GRIK2 GRIN1 GRIN2A GRM7 HCN1 HCN2 HNRNPU IQSEC2 KCNA1 KCNB1 KCNC2 MAPK10 MAST3 MTHFS MTOR NEUROD2 NEXMIF NGLY1 NHLRC1 PAFAH1B1 PCDH19 PHGDH PIGM PIGP PIGQ PIK3CA PLPBP PNKP PRICKLE1 PRMT7 PTEN RUSC2 SCN1A SCN1B SCN2A SCN9A SIK1 SLC25A22 SLC2A1 SLC32A1 SLC6A1 ST3GAL3 STX1B STXBP1 SYNGAP1 TRIM8 HP_ATOPIC_DERMATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATOPIC_DERMATITIS ABCC9 BRAF CARD11 CDSN CFTR CTLA4 DOCK8 DPP9 FLG2 FOXN1 GNB2 HSPA9 IFIH1 IGHG2 IGKC IL6R IL6ST IPO8 JAK1 KARS1 KRT1 KRT74 LRRC32 MORC2 NEK9 PGM3 RRAS2 SCNN1A SCNN1B SCNN1G SRCAP TBC1D2B ZNF341 HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL ATP6V1B2 BRD4 CDC45 CDC6 CDT1 DCHS1 DDR2 EFTUD2 ERBB3 EYA1 FAT4 FGFR2 FKRP FKTN FRAS1 FREM2 GLI3 GMNN GPRASP2 GRIP1 GSC HDAC8 HOXA2 KIF15 KMT2D LARGE1 NIPBL NOTCH3 ORC1 ORC4 ORC6 PAX1 POMT1 POMT2 RAD21 RPL11 RPL26 RPS26 SF3B2 SF3B4 SIX1 SIX5 SMC1A SMC3 SMCHD1 SNRPB STAG2 TBC1D24 TCOF1 TP63 TSHZ1 TSR2 TWIST2 HP_ATRIAL_ARRHYTHMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_ARRHYTHMIA ABCC9 ACTC1 ACTN2 ANK2 APRT CACNA1C CACNA2D1 CACNB2 CASQ2 CAVIN1 CITED2 CLIC2 CSRP3 DBH DMPK DTNA EMD FHOD3 FLNC GATA4 GATA5 GATA6 GATAD1 GJA5 GNB2 HCN4 JPH2 KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ3 KCNJ5 KCNK3 KCNQ1 KIF20A LAMP2 LMNA LMOD2 LRP12 MFAP5 MT-CYB MYH6 MYH7 MYL4 MYOZ2 MYPN NEXN NKX2-5 NKX2-6 NODAL NPPA NUP155 PITX2 PLN POLG POLG2 PRKAG2 PSEN2 RRM2B RYR2 SCN1B SCN2B SCN3B SCN4B SCN5A SGO1 SLC25A4 SLC4A3 SMAD3 TAB2 TBX20 TBX5 TLL1 TMEM43 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TRDN TTN TTR TWNK XK HP_ATRIAL_FLUTTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_FLUTTER ACTC1 CITED2 CLIC2 DMPK GATA4 GATA6 KCNK3 LMNA MT-CYB MYH6 NKX2-5 NUP155 PRKAG2 SCN3B SCN5A SGO1 TBX20 TLL1 TNNI3K HP_ATRIAL_STANDSTILL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_STANDSTILL CASQ2 GJA5 NPPA RYR2 SCN5A TRDN HP_ATRIOVENTRICULAR_CANAL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIOVENTRICULAR_CANAL_DEFECT ACVR2B BRAF CCDC22 CCDC32 CDC45 CDH2 CFAP45 CFAP53 CFC1 CIROP CRELD1 DEF6 DHCR7 DNAH9 DOHH DPYSL5 DYNC2LI1 ERCC4 EVC EVC2 FANCB FOXF1 GATA1 GATA4 GATA6 GDF1 GLI1 GLI3 HYLS1 IFT27 INTU IRX5 KAT6B KDM6A LONP1 LZTR1 MMP21 NEK1 NKX2-5 NKX2-6 NODAL NR2F2 PKD1L1 PLXND1 PRKACA PRKACB PRKD1 PTPN11 PUF60 RAF1 RBM8A SMAD2 SUPT16H TBX1 TBX5 TRIO TTC26 VPS35L WASHC5 WDPCP ZIC3 HP_ATROPHIC_GASTRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_GASTRITIS AIRE CDH1 CTLA4 DEF6 IFIH1 LRBA NFKB1 HP_ATROPHIC_SCARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_SCARS ADA2 ADAMTS2 AEBP1 B3GALT6 B4GALT7 C1R C1S CARMIL2 CHST14 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 CTSC DSE DST FKBP14 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LRP1 MMP1 PLEC PLOD1 SLC39A13 SMAD3 TNXB HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM ATP1A3 ATP6V0A1 ATXN1 CACNA1G CERS1 COG5 COG8 DEGS1 DNAJC19 DNAJC3 DNM1L DNMT1 ECHS1 ELOVL5 FA2H FARS2 GET4 GFM2 GNAO1 KIF1A LMNB1 LYRM7 OPA1 PCLO PMPCB PNKP PRDX3 RARS2 RNASEH1 SLC35A2 SPTAN1 SYNE1 TBCD TBP TRAPPC6B TRRAP TWNK ZNHIT3 HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM AARS1 AARS2 ABCA7 ABCD1 ABCD4 ABHD5 ACD ACER3 ACO2 ACTB ACTG1 ACTL6B ACY1 ADAM22 ADAR ADARB1 ADAT3 ADGRV1 ADH1C ADK ADNP ADPRS ADSL AFF3 AGA AGTPBP1 AIFM1 AIMP1 AIMP2 ALDH18A1 ALDH7A1 ALG1 ALG11 ALG13 ALG14 ALG3 ALG8 ALG9 ALS2 AMPD2 ANG ANXA11 AP1B1 AP1S2 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APOE APP ARV1 ARX ASAH1 ASNS ASPA ATAD1 ATG7 ATL1 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP5PO ATP6AP2 ATP6V0A1 ATP6V1A ATP8A2 ATPAF1 ATPAF2 ATRX ATXN1 ATXN2 ATXN3 ATXN7 ATXN8OS AUH B3GLCT B4GALNT1 BAZ1B BCAP31 BCAS3 BCL7B BCS1L BICD2 BICRA BMP4 BRAF BRAT1 BRD4 BSCL2 BTD BUB1 BUD23 C19orf12 C9orf72 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1I CACNA2D1 CAD CAMTA1 CARS1 CARS2 CASK CASZ1 CCDC47 CCNF CCT5 CDC42 CDH23 CDK19 CDKL5 CELF2 CEP126 CERS1 CFAP410 CHAMP1 CHCHD10 CHMP2B CIB2 CISD2 CIZ1 CLCN4 CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLTC CNKSR2 CNPY3 CNTNAP1 COASY COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL18A1 COLGALT1 COPB1 COQ2 COQ9 COX11 COX16 COX4I1 COX8A CPA6 CPLANE1 CPLX1 CPSF3 CPT1C CRLS1 CSF1R CTDP1 CTNS CTSD CTSF CWC27 CYB5A CYB5R3 CYFIP2 CYLD CYP27A1 CYP7B1 DALRD3 DAO DARS2 DCDC2 DCTN1 DDB2 DDX3X DEGS1 DGUOK DHCR7 DHDDS DHFR DHX30 DKC1 DLAT DMPK DMXL2 DNAJB4 DNAJC13 DNAJC19 DNAJC3 DNAJC30 DNAJC5 DNAJC6 DNM1 DNM1L DNMT1 DOCK6 DOCK7 DOHH DPAGT1 DPH5 DPM1 DPYD DSE DTYMK DYNC1I2 DYRK1A ECHS1 EEF1A2 EHMT1 EIF2AK2 EIF2B4 EIF4G1 EIF4H ELN ELOVL4 ELOVL5 EMC1 EMX2 EPG5 EPHA4 EPM2A EPRS1 ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN EXOC7 EXOC8 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FA2H FADD FAR1 FARS2 FARSB FASTKD2 FBLN1 FBXL4 FBXO28 FDXR FGF12 FGF13 FGFR1 FGFR3 FH FIG4 FKBP6 FKRP FLI1 FMR1 FOLR1 FOXP2 FRMPD4 FRRS1L FTL FTO FUCA1 FUS FXN FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GAD1 GALC GBA1 GBA2 GCDH GDAP2 GEMIN4 GET4 GFAP GFM1 GFM2 GIGYF2 GJC2 GLB1 GLE1 GLT8D1 GLUD2 GLUL GLYCTK GM2A GMPPB GNAO1 GNAQ GNB1 GNPTAB GOLGA2 GON7 GOT2 GPKOW GRIA2 GRIA3 GRIA4 GRID2 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 GUSB H3-3A HACE1 HCN1 HDAC4 HDAC8 HECW2 HEPACAM HERC1 HEXB HIC1 HID1 HIVEP2 HNF1B HNRNPA1 HNRNPA2B1 HRAS HSD17B10 HSD17B4 HSPG2 HTRA1 HTRA2 HTT HUWE1 IARS2 IBA57 IDS IDUA IFIH1 IGHMBP2 IKBKG IRF2BPL ITPA JPH3 KANK1 KARS1 KCNA1 KCNA2 KCNAB2 KCNB1 KCNMA1 KCNQ2 KCNQ5 KCNT1 KCTD7 KDM6A KIDINS220 KIF1A KIF1C KIF26A KIF5A KIF7 KMT2D KPNA3 KRAS KY L2HGDH LAGE3 LARGE1 LHX1 LIAS LIMK1 LIPT2 LMNB1 LONP1 LRP12 LRRK2 LSM11 LUZP1 LYRM7 LYST MAF MAG MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MAPT MARS2 MATR3 MBTPS2 MDH2 MECP2 MECR MED11 MED17 MED25 MED27 MEF2C METTL27 MFSD8 MGAT2 MINPP1 MLXIPL MMACHC MMADHC MMP23B MOCS1 MOCS2 MOGS MORC2 MPDU1 MPLKIP MRM2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MTHFR MTR MTRR MUC1 MVK MYO5A MYO7A MYORG MYT1L NAA10 NACC1 NADK2 NAE1 NAGA NALCN NANS NARS1 NARS2 NAXD NAXE NBN NCF1 NDE1 NDN NDP NDUFA11 NDUFA2 NDUFA8 NDUFA9 NDUFAF5 NDUFB8 NDUFS1 NDUFS2 NDUFV1 NDUFV2 NECAP1 NEFH NEFL NEK1 NEUROD2 NEXMIF NFIX NGLY1 NHLRC1 NHLRC2 NIPA1 NIPBL NKX6-2 NMNAT1 NODAL NOTCH3 NOVA2 NPC1 NR4A2 NRROS NSD1 NTNG2 NTRK2 NUP133 NUP214 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OCLN OFD1 OGDHL OPA1 OPHN1 OPTN OSGEP OSTM1 OTUD5 OTUD6B PACS2 PAFAH1B1 PANK2 PARN PARS2 PCCA PCCB PCDH15 PCDH19 PCDHGC4 PCK1 PCLO PCNA PCYT2 PDE10A PDE6D PDE8B PDHA1 PDHX PDPN PDYN PDZD7 PEX1 PEX16 PEX19 PEX7 PFN1 PGAP1 PGAP2 PHACTR1 PHGDH PI4KA PIGA PIGG PIGL PIGN PIGP PIGQ PIGS PIGT PIGU PIGV PITRM1 PLA2G6 PLAA PLCB1 PLK4 PLP1 PLPBP PMPCA PMPCB PNKP PNPLA6 PNPO PODXL POGZ POLA1 POLG POLG2 POLR3A POLR3B POLR3K POMT1 POMT2 PON1 PON2 PON3 POU4F1 PPARGC1A PPFIBP1 PPP2R2B PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRDX3 PRKAR1B PRKCZ PRKDC PRKN PRNP PRPH PRUNE1 PSAP PSEN1 PSEN2 PSPH PTCD3 PTDSS1 PUF60 PURA PUS3 PUS7 PYCR2 QARS1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RALGAPA1 RARS1 RARS2 RBL2 RBM28 REPS1 RERE RFC2 RFT1 RHOBTB2 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF216 RNU12 RNU4ATAC RNU7-1 ROGDI RPS6KA3 RTEL1 RTN2 RTTN RUSC2 SACS SAMHD1 SATB1 SBF1 SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCO1 SCO2 SCYL2 SEPSECS SERAC1 SERPINI1 SETBP1 SETD2 SETX SHH SHPK SHQ1 SIGMAR1 SIK1 SIX3 SKI SLC12A5 SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A4 SLC25A15 SLC25A22 SLC25A46 SLC2A1 SLC2A3 SLC31A1 SLC32A1 SLC33A1 SLC35A2 SLC35B2 SLC35C1 SLC38A3 SLC39A14 SLC39A4 SLC39A8 SLC5A6 SLC9A6 SLITRK2 SMARCC2 SMC1A SMC3 SMG8 SMG9 SMN1 SMN2 SNCA SNCAIP SNORD118 SNRPN SNX14 SOD1 SON SORL1 SOX10 SPAST SPATA5 SPEN SPG11 SPG21 SPG7 SPTAN1 SPTBN1 SPTLC1 SQSTM1 ST3GAL5 STAG1 STAMBP STUB1 STX1A STX1B STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF15 TAF2 TANGO2 TARDBP TARS1 TARS2 TBC1D20 TBC1D24 TBCD TBCK TBK1 TBL1XR1 TBL2 TBP TCTN3 TDP1 TECPR2 TERT TFG TGFB1 TIA1 TIAM1 TIMM50 TIMM8A TINF2 TK2 TMCO1 TMEM106B TMEM147 TMEM270 TMEM67 TMEM70 TMX2 TOE1 TOMM40 TP53RK TPI1 TPK1 TPP1 TPRKB TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIT1 TRMT5 TRNT1 TRPM7 TRRAP TSEN15 TSEN2 TSEN54 TTC19 TTC26 TTC5 TUBA4A TUBGCP4 TUBGCP6 TWNK TXN2 TYROBP UBA1 UBA5 UBAP1 UBE3A UBE4B UBQLN2 UBTF UCHL1 UFM1 UGP2 UNC13A UNC80 UQCRC1 USH1C USH1G USH2A USP9X VAC14 VAPB VARS1 VCP VPS11 VPS13A VPS13C VPS16 VPS33A VPS35 VPS37D VPS41 VPS4A VPS53 VRK1 WARS2 WASHC5 WDR45 WDR73 WDR81 WFS1 WHRN WIPI2 WWOX XPA XPC YIF1B YME1L1 YRDC YWHAE YWHAG ZBTB20 ZC4H2 ZMIZ1 ZNF335 ZNF592 ZNF668 ZNHIT3 ZSWIM6 HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM AARS1 ABCA7 ABCD4 ACD ACER3 ACO2 ACTB ACTG1 ACTL6B ACY1 ADAM22 ADAR ADARB1 ADGRV1 ADK ADNP ADPRS ADSL AGA AGTPBP1 AIFM1 AIMP1 AIMP2 ALDH18A1 ALG1 ALG11 ALG13 ALG14 ALG3 ALG8 ALG9 ALS2 AMPD2 AP1B1 AP1S2 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APOE APP ARV1 ARX ASNS ATAD1 ATG7 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V1A ATP8A2 ATPAF1 ATPAF2 ATRX ATXN2 ATXN7 AUH B3GLCT B4GALNT1 BAZ1B BCAP31 BCAS3 BCL7B BCS1L BICD2 BICRA BMP4 BRAF BRD4 BSCL2 BTD BUB1 BUD23 C9orf72 CACNA1A CACNA1B CACNA1E CACNA2D1 CAMTA1 CARS1 CARS2 CASK CASZ1 CCDC47 CDC42 CDH23 CDK19 CDKL5 CELF2 CHCHD10 CHMP2B CIB2 CISD2 CIZ1 CLCN4 CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLTC CNKSR2 CNTNAP1 COASY COG1 COG2 COG4 COG5 COG6 COG7 COL18A1 COLGALT1 COQ2 COQ9 COX4I1 CPA6 CPLX1 CPSF3 CRLS1 CSF1R CTDP1 CTNS CTSD CTSF CWC27 CYB5A CYB5R3 CYFIP2 CYP27A1 DALRD3 DARS2 DCDC2 DDB2 DDX3X DGUOK DHCR7 DHDDS DHFR DHX30 DKC1 DMPK DMXL2 DNAJC13 DNAJC3 DNAJC30 DNM1 DNM1L DNMT1 DOCK6 DOCK7 DPAGT1 DPM1 DPYD DSE DTYMK DYNC1I2 DYRK1A EEF1A2 EHMT1 EIF2AK2 EIF2B4 EIF4G1 EIF4H ELN ELOVL4 EMC1 EMX2 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN EXOC7 EXOSC1 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FA2H FADD FAR1 FARS2 FARSB FASTKD2 FBLN1 FBXL4 FBXO28 FDXR FGF12 FGF13 FGFR1 FH FKBP6 FKRP FLI1 FMR1 FOXP2 FRMPD4 FRRS1L FTL FUCA1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GAD1 GALC GBA1 GBA2 GCDH GDAP2 GET4 GFM2 GIGYF2 GJC2 GLB1 GLE1 GLYCTK GM2A GMPPB GNAO1 GNAQ GNPTAB GOLGA2 GON7 GOT2 GPKOW GRIA2 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HACE1 HCN1 HDAC4 HDAC8 HECW2 HEPACAM HERC1 HEXB HIC1 HIVEP2 HNF1B HRAS HSD17B10 HSD17B4 HSPG2 HTRA1 HTRA2 HTT HUWE1 IARS2 IBA57 IFIH1 IKBKG IRF2BPL ITPA JPH3 KANK1 KARS1 KCNA1 KCNA2 KCNAB2 KCNB1 KCNMA1 KCNQ2 KCNT1 KCTD7 KDM6A KIDINS220 KIF1A KIF1C KIF26A KIF7 KMT2D KRAS KY L2HGDH LAGE3 LARGE1 LHX1 LIAS LIMK1 LIPT2 LMNB1 LONP1 LRRK2 LSM11 LUZP1 LYRM7 MAF MAG MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MAPT MARS2 MBTPS2 MDH2 MECP2 MECR MED11 MED17 MED25 MED27 MEF2C METTL27 MFSD8 MINPP1 MLXIPL MMACHC MMADHC MMP23B MOCS1 MOCS2 MOGS MORC2 MPDU1 MPLKIP MRM2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTR MTRR MUC1 MVK MYO5A MYO7A MYT1L NAA10 NACC1 NADK2 NAGA NALCN NANS NAXD NCF1 NDE1 NDN NDP NDUFA2 NDUFA8 NDUFA9 NDUFAF5 NDUFB8 NECAP1 NEK1 NEUROD2 NEXMIF NFIX NGLY1 NIPBL NKX6-2 NMNAT1 NODAL NOVA2 NRROS NSD1 NTRK2 NUP133 NUP214 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OCLN OFD1 OGDHL OPA1 OPHN1 OSGEP OSTM1 OTUD6B PACS2 PAFAH1B1 PANK2 PARN PARS2 PCCA PCCB PCDH15 PCDHGC4 PCK1 PCLO PCYT2 PDE6D PDHA1 PDHX PDPN PDZD7 PEX1 PEX16 PEX19 PEX7 PGAP1 PHACTR1 PIGA PIGG PIGL PIGN PIGP PIGQ PIGS PIGT PIGU PIGV PITRM1 PLA2G6 PLAA PLCB1 PLK4 PMPCA PNKP POGZ POLA1 POLG POLG2 POLR3A POLR3B POLR3K POMT1 POMT2 POU4F1 PPFIBP1 PPP2R2B PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRKAR1B PRKCZ PRKN PRNP PRUNE1 PSAP PSEN1 PSEN2 PSPH PTCD3 PTDSS1 PUF60 PUS3 PYCR2 QARS1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RALGAPA1 RARS1 RARS2 RBL2 REPS1 RERE RFC2 RFT1 RHOBTB2 RMND1 RNASEH1 RNASEH2A RNASEH2B RNF113A RNF125 RNF216 RNU12 RNU4ATAC RNU7-1 ROGDI RPS6KA3 RTEL1 RTTN SACS SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCO2 SCYL2 SEPSECS SERPINI1 SETBP1 SETD2 SHH SHPK SHQ1 SIK1 SIX3 SKI SLC12A5 SLC13A5 SLC17A5 SLC1A2 SLC1A4 SLC25A15 SLC25A22 SLC25A46 SLC2A1 SLC2A3 SLC31A1 SLC32A1 SLC33A1 SLC35A2 SLC35B2 SLC35C1 SLC38A3 SLC39A14 SLC39A4 SLC39A8 SLC5A6 SLC9A6 SLITRK2 SMARCC2 SMC1A SMC3 SMG9 SNCA SNORD118 SNRPN SNX14 SORL1 SOX10 SPATA5 SPEN SPG11 SPG21 SPG7 SPTAN1 SQSTM1 STAG1 STAMBP STUB1 STX1A STX1B STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SYNGAP1 SYNJ1 SYT2 SZT2 TAF2 TANGO2 TARS1 TARS2 TBC1D20 TBC1D24 TBCD TBCK TBK1 TBL2 TBP TCTN3 TDP1 TECPR2 TERT TGFB1 TIAM1 TIMM50 TIMM8A TINF2 TK2 TMCO1 TMEM106B TMEM147 TMEM270 TMEM67 TMEM70 TMX2 TOE1 TOMM40 TP53RK TPI1 TPP1 TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2L TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIT1 TRNT1 TRPM7 TRRAP TSEN15 TSEN2 TSEN54 TTC19 TTC26 TTC5 TUBGCP4 TUBGCP6 TWNK TYROBP UBA5 UBE3A UBE4B UBTF UCHL1 UFM1 UGP2 UNC80 UQCRC1 USH1C USH1G USH2A VARS1 VCP VPS13A VPS13C VPS16 VPS35 VPS37D VPS41 VPS4A VPS53 VRK1 WARS2 WDR45 WDR73 WFS1 WHRN WIPI2 WWOX XPA XPC YIF1B YRDC YWHAE YWHAG ZC4H2 ZMIZ1 ZNF335 ZNHIT3 ZSWIM6 HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS ADAR ASNS BSCL2 FOXP2 FTL HTT JPH3 MT-ATP6 NDUFAF5 NEK1 NUP54 NUP62 OPHN1 SLC2A3 TIMM8A TREM2 TYROBP VPS13A HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS ABCD1 ATL1 BAZ1B BCL7B BUD23 CHCHD10 CLIP2 CPT1C DCTN1 DNAJC30 EIF4H ELN FKBP6 FUS GTF2I GTF2IRD1 GTF2IRD2 KPNA3 LIMK1 METTL27 MLXIPL MT-ATP6 NCF1 NEFH NIPA1 PLP1 PRPH RFC2 RTN2 SLC33A1 SOD1 SPAST SPG11 SPG7 SQSTM1 STX1A TARDBP TBK1 TBL2 TMEM270 UBAP1 VCP VPS37D WASHC5 HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD ABCD1 ALDH18A1 CCT5 CYP7B1 DNAJC3 FA2H FXN GFAP LMNB1 LYST MMACHC MORC2 MTHFR NEFL PI4KA PNPLA6 POLG SETX SPG11 SPG7 TWNK HP_ATROPHY_OF_ALVEOLAR_RIDGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_OF_ALVEOLAR_RIDGES C1R C1S CTSC ELANE LYST HP_ATTACHED_EARLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTACHED_EARLOBE CDH11 HIVEP2 HS2ST1 NSD2 RDH11 RECQL SMG9 HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER AARS1 ABCD1 ACTL6B ADGRL1 ADH5 ADNP AGO1 AGO2 ALKBH8 ANAPC1 ANKRD11 ANKRD17 AP2M1 AP3B2 APC2 ARID2 ARPC4 ARV1 ARVCF ASPM ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP9A AUTS2 BAP1 BAZ1B BCL7B BCORL1 BCR BMPR1A BRD4 BUD23 C12orf4 CABP4 CACNA1A CACNA1B CACNA1C CACNA1H CACNA2D1 CAMTA1 CARS1 CDC42BPB CDH11 CDH2 CDK19 CDK8 CDKN1C CDON CELF2 CHD2 CHD3 CHD5 CHD7 CHD8 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIC CLIP2 CLTC CNKSR2 CNTNAP2 COMT CORO1A CRBN CRH CRKL CSGALNACT1 CSNK2A1 CYFIP2 CYP27A1 DALRD3 DCDC2 DDB1 DEAF1 DEPDC5 DHCR7 DHDDS DHTKD1 DISP1 DLG3 DLL1 DNAJC12 DNAJC30 DNM1 DPH1 DPH2 DRD4 DRD5 DYNC1I2 DYRK1A EEF1A2 EIF2AK1 EIF4H ELN EPCAM FAN1 FANCD2 FANCL FBXO28 FGD1 FGF12 FGF13 FGF8 FGFR1 FGFR3 FKBP6 FLG FLI1 FLII FMR1 FOXG1 FOXH1 FOXP1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALT GAS1 GATA4 GLI2 GLUD1 GNAQ GNB1 GNB5 GNE GP1BB GRIA1 GRIK2 GRIN2A GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HDAC4 HDAC8 HDC HEPACAM HERC2 HIRA HMGA2 HNRNPH2 HNRNPK HNRNPR HOXA2 HSPG2 IFNG IGF1 IGF2 IKBKG IQSEC1 IQSEC2 JARID2 JMJD1C JRK KANSL1 KAT5 KAT8 KCNA2 KCNA4 KCNB1 KCNN2 KCNT1 KDM3B KDM4B KIF11 KIF14 KMT2B KMT5B KPNA3 KRAS LGI3 LHCGR LIG4 LIMK1 LMAN2L MADD MAGEL2 MAP1B MAPK1 MCTP2 MED12 MED12L MED13 METTL27 METTL5 MKRN3 MLH1 MLH3 MLXIPL MSH2 MSH6 NAA15 NBEA NBN NCF1 NDP NECAP1 NEXMIF NF1 NFIA NFIB NIPA1 NIPA2 NIPBL NKAP NLGN1 NODAL NOP56 NPAP1 NR2F1 NSD1 NSUN2 NTRK2 NUS1 OCRL ODC1 OPHN1 PACS2 PAH PANK2 PARS2 PCDH19 PCGF2 PCNT PDGFRB PDZD8 PHF21A PHIP PIDD1 PIEZO2 PIK3CA PLAG1 PLCH1 PMS1 PMS2 POLA1 PPM1D PPP1R12A PPP1R21 PPP2CA PPP3CA PRKAR1B PRKCG PRKD1 PRNP PRR12 PSMB1 PTCH1 PTCHD1 PTEN PUS7 PWAR1 PWRN1 RAD21 RAI1 RERE RFC2 RFX7 RIC1 RPS20 RREB1 RSRC1 SATB2 SCAPER SCN1A SCN3A SCN8A SEC24C SEMA3E SEMA4A SETBP1 SETD2 SETD5 SH2B1 SH3KBP1 SHH SHMT2 SHOC2 SIM1 SIN3A SIX3 SLC13A5 SLC1A2 SLC25A36 SLC2A1 SLC38A3 SLC6A1 SLC6A19 SLC6A8 SLC7A6OS SLC9A7 SLF2 SLITRK1 SMARCA2 SMC1A SMC3 SMC5 SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX5 SOX6 SPEN SPG7 SPRED1 SPTBN1 SRCAP SRPX2 STAG2 STEEP1 STIL STS STX1A SUPT16H SYNGAP1 SYNJ1 SZT2 TAF1 TANC2 TAOK1 TBC1D23 TBL1X TBL2 TBX1 TBX2 TDGF1 TET3 TGFBR2 TGIF1 THRB TIAM1 TIMM8A TKT TLK2 TMCO1 TMEM270 TMEM67 TNIK TNPO2 TNRC6B TPH2 TRAK1 TRAPPC14 TRIO TSC1 TSC2 TSHB TUBA1A TUBB2B TUBB3 TUBG1 UBA5 UBE3A UBE4A UFD1 UPF3B USP7 VPS37D WAC WBP11 WWOX YME1L1 YWHAG YY1 ZBTB20 ZDHHC9 ZIC2 ZMIZ1 ZMYM2 ZNF292 HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS ABCA4 AGBL5 AIPL1 ARL3 ARL6 ARV1 ATF6 BBS1 BBS9 BEST1 CCDC28B CDHR1 CERKL CFAP410 CFAP418 CHM CLCC1 CLRN1 CNGA1 CNGA3 CNGB3 CNNM4 COL18A1 CRB1 DHX38 ERCC4 EYS FGF12 FLVCR1 FSCN2 GGCX GNAT2 GUCY2D HARS1 HK1 HLA-A IDH3A IDH3B IFT140 IFT172 IFT43 IMPDH1 IMPG2 KIAA1549 LCA5 LRAT MAK MKS1 MVK NMNAT1 NRL NUS1 OFD1 PCARE PDE6A PDE6B PDE6C PDE6G PDE6H PRCD PROM1 PRPF4 PRPF6 PRPF8 PRPH2 RAX2 RDH11 RDH12 RDH5 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RPE65 RPGR RPGRIP1 RTTN SCAPER SEMA4A SLC24A1 SLC6A6 SNRNP200 SPATA7 SSBP1 TLCD3B TOPORS TTC8 TUB TULP1 UNC119 USH2A USP45 WDR19 ZNF408 ZNF513 HP_ATYPICAL_ABSENCE_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_ABSENCE_SEIZURE AP2M1 CACNA1A CACNB4 CEP85L CHD2 CLPB CUX2 DNM1 EPM2A FRRS1L GABRA1 GABRB3 GABRG2 GRIN2A HNRNPU KCNB1 KCNMA1 KCNT2 MAPK10 NHLRC1 PAFAH1B1 PCDH19 PPP3CA SCN1A SCN1B SCN2A SCN9A SRPX2 SZT2 TRIM8 UBE3A ZEB2 HP_ATYPICAL_NEVI_IN_NON_SUN_EXPOSED_AREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_NEVI_IN_NON_SUN_EXPOSED_AREAS BRAF CDK4 PDE11A PRKAR1A STK11 HP_AUDITORY_HALLUCINATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUDITORY_HALLUCINATIONS CACNA1A CDH2 CEP85L CLN6 CSF1R DEPDC5 DNAJC5 FIG4 LGI1 MMACHC NPRL2 NPRL3 PDGFRB RELN SON TTR HP_AUDITORY_HYPERSENSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUDITORY_HYPERSENSITIVITY BAZ1B BCL7B BUD23 CLIP2 CREBBP DEAF1 DNAJC30 EDNRA EIF4H ELN EP300 ESR1 FKBP6 FLII GM2A GTF2I GTF2IRD1 GTF2IRD2 HEXB IQSEC2 LIMK1 METTL27 MLXIPL NCF1 PPM1D RAI1 RFC2 SCN1A SLC1A3 STX1A TBL2 TMEM270 TNF TRIO VPS37D HP_AUTISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISM AARS1 ACTL6B ADNP ADSL AHDC1 AKT1 ALAD ALDH5A1 ALG13 ALG14 ANKRD11 AP3B2 ARCN1 ARNT2 ARV1 ARVCF ASXL3 ATP1A2 ATP1A3 ATP6V1A ATRX BAZ1B BCKDK BCL7B BRD4 BUD23 CACNA1A CACNA1B CACNA1C CACNA2D1 CASZ1 CDK13 CDK19 CELF2 CHD1 CHD7 CHD8 CHRNA7 CLIP2 CLTC CNKSR2 CNTNAP2 COMT CREBBP CYFIP2 CYP27A1 DALRD3 DEAF1 DHCR7 DHDDS DICER1 DNAJC30 DNM1 DOCK7 DPAGT1 DPYD DYRK1A EEF1A2 EHMT1 EIF4H ELN EP300 EXT2 FBXO28 FGF12 FGF13 FGFR1 FKBP6 FLCN FLG FMR1 FOXG1 FTCD FTSJ1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GAMT GATM GJA5 GJA8 GLRA2 GNB1 GP1BB GRIA3 GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HDAC4 HDAC8 HECTD4 HERC2 HESX1 HIRA HNF1B HSPG2 IFNG IL1RAPL1 IQSEC2 JMJD1C KCNA2 KCNAB2 KCNB1 KDM5C KLLN KMT2A LHX1 LIMK1 LUZP1 MAGEL2 MAN1B1 MAOA MECP2 MED12 MED13L MEIS2 METTL27 MKRN3 MLXIPL MMP23B NAA20 NAGA NCF1 NDN NDP NECAP1 NFIB NHS NIPA1 NIPA2 NIPBL NLGN3 NONO NPAP1 NR2F1 NTRK2 NUS1 OCA2 OTX2 PACS2 PAH PAK2 PARS2 PDE4D PDPN PIGL PIK3CA PLXND1 PPP3CA PRDM16 PRKCZ PROKR2 PTCHD1 PTEN PWAR1 PWRN1 RAD21 RAI1 RERE REV3L RFC2 RPL10 RREB1 SATB1 SATB2 SCN2A SCN3A SCN8A SDHB SDHC SDHD SEC23B SEC24C SEMA3E SETD2 SH2B1 SHANK3 SIN3A SKI SLC13A5 SLC1A2 SLC35C1 SLC38A3 SLC9A6 SMAD4 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SOX2 SOX3 SPEN SPTBN1 STS STX1A SUPT16H SYNGAP1 SYNJ1 SZT2 TAOK1 TBCK TBL2 TBR1 TBX1 TCF12 TMEM270 TMLHE TRAK1 TSC1 TSC2 TUBG1 UBA5 UBE3A UBE4B UFD1 USF3 VPS37D WFS1 WWOX YWHAG YY1 ZBTB20 HP_AUTISTIC_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISTIC_BEHAVIOR AARS1 ACOX1 ACSL4 ACTL6B ADGRL1 ADGRV1 ADH5 ADNP ADSL AFF2 AFF3 AGO1 AGO2 AHDC1 AKT1 ALAD ALDH18A1 ALDH4A1 ALDH5A1 ALG11 ALG13 ALG14 ALMS1 ANK3 ANKRD11 ANKRD17 AP1G1 AP1S2 AP2M1 AP3B2 APC2 ARCN1 ARID1A ARID1B ARID2 ARNT2 ARV1 ARVCF ARX ASH1L ASXL3 ATG7 ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP6V0A1 ATP6V1A ATP6V1B2 ATP9A ATRX AUTS2 BAP1 BAZ1B BCKDK BCL11A BCL11B BCL7B BCOR BCORL1 BICRA BRD4 BUD23 C12orf4 CACNA1A CACNA1B CACNA1C CACNA2D1 CAMK2B CAMTA1 CAPN15 CARS2 CASK CASZ1 CC2D2A CCNK CDC42BPB CDH11 CDH15 CDH2 CDK13 CDK19 CDK8 CDKL5 CELF2 CEP290 CEP85L CHD1 CHD2 CHD3 CHD5 CHD7 CHD8 CHKA CHMP1A CHMP2B CHRNA7 CIC CLCN3 CLCN4 CLIP2 CLN5 CLN8 CLTC CNKSR2 CNOT3 CNTNAP2 COG5 COMT CREBBP CTCF CTNNA2 CTNNB1 CUL3 CUX2 CYFIP2 CYP27A1 DALRD3 DCX DDX3X DEAF1 DEPDC5 DHCR7 DHDDS DHX30 DICER1 DLG4 DLK1 DLL1 DMPK DMXL2 DNAJC21 DNAJC30 DNAJC6 DNM1 DOCK7 DOLK DPAGT1 DPF2 DPP9 DPYD DPYSL5 DYRK1A EEF1A2 EFL1 EHMT1 EIF4H EIF5A ELN EP300 EXT2 EXTL3 FBLN5 FBXO28 FBXW11 FGF12 FGF13 FGFR1 FKBP6 FLCN FLG FMR1 FOXG1 FOXP1 FOXP2 FRA10AC1 FRMPD4 FRRS1L FTCD FTSJ1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALNT2 GALT GAMT GATAD2B GATM GFM2 GJA5 GJA8 GLRA2 GLYCTK GNAI1 GNAO1 GNAQ GNB1 GNB2 GP1BB GRIA1 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C11 H4C5 HCN1 HDAC4 HDAC8 HECTD4 HECW2 HEPACAM HERC1 HERC2 HESX1 HEXB HIRA HIVEP2 HNF1B HNRNPH2 HSPG2 HTRA2 IARS1 IFNG IFT140 IL1RAPL1 INTS1 IQSEC2 JAG2 JAM2 JARID2 JMJD1C KANSL1 KAT6A KAT8 KCNA1 KCNA2 KCNAB2 KCNB1 KCNC2 KCNN2 KDM3B KDM4B KDM5C KDM6B KLLN KMT2A KMT2B KMT2C KMT5B KPTN LHX1 LIMK1 LINGO1 LRRK2 LSS LUZP1 MADD MAGEL2 MAN1B1 MAN2C1 MAOA MAP1B MAPK10 MAPK8IP3 MAPT MBD5 MBOAT7 MCTP2 MECP2 MED12 MED12L MED13 MED13L MEF2C MEG3 MEIS2 METTL27 METTL5 MFSD2A MID1 MKRN3 MLXIPL MMP23B MSTO1 MTOR MTSS2 MYT1L NAA10 NAA15 NAA20 NAGA NBEA NCAPD2 NCF1 NDN NDP NECAP1 NEUROD2 NEXMIF NF1 NFIB NFIX NHS NIPA1 NIPA2 NIPBL NLGN1 NLGN3 NLGN4X NONO NOVA2 NPAP1 NPRL2 NPRL3 NR2F1 NSD1 NSD2 NTNG1 NTNG2 NTRK2 NUS1 OCA2 OPHN1 OTUD5 OTUD6B OTX2 PACS1 PACS2 PAH PAK2 PARK7 PARS2 PCDH19 PCGF2 PDE4D PDPN PDZD8 PGAP2 PGAP3 PHACTR1 PHF21A PIGG PIGL PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3CA PINK1 PLA2G6 PLXNA1 PLXND1 PNKP PODXL POGZ POLA1 POLR2A POMT1 POU3F3 POU4F1 PPM1D PPP2CA PPP2R5D PPP3CA PRDM16 PRKAR1B PRKCZ PRKN PRODH PROKR2 PRORP PRR12 PSEN1 PSMC3 PSMD12 PTCHD1 PTEN PUF60 PUS3 PWAR1 PWRN1 QRICH1 RAB39B RAC1 RAD21 RAI1 RALA RERE REV3L RFC2 RFX7 RIMS2 RLIM RNF135 RORA RPGRIP1L RPL10 RPS23 RREB1 RSPRY1 RSRC1 RTL1 SATB1 SATB2 SBDS SBF2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHB SDHC SDHD SEC23B SEC24C SEMA3E SETBP1 SETD1A SETD1B SETD2 SETD5 SH2B1 SHANK3 SIK1 SIM1 SIN3A SIN3B SKI SLC12A2 SLC13A5 SLC1A2 SLC25A22 SLC2A1 SLC32A1 SLC35A3 SLC35C1 SLC38A3 SLC6A1 SLC6A8 SLC9A6 SLF2 SLITRK2 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SNCA SNORD115-1 SNORD116-1 SNRPN SNX14 SON SOX11 SOX2 SOX3 SOX4 SOX6 SPATA5 SPECC1L SPEN SPTBN1 SQSTM1 SRCAP SRP54 SRY STAG1 STAG2 STEEP1 STS STX1A STX1B STXBP1 SUPT16H SVBP SYN1 SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TANC2 TAOK1 TBC1D23 TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX2 TCEAL1 TCF12 TCF20 TCF4 TET3 TFE3 THOC2 TIAM1 TLK2 TM4SF20 TMEM106B TMEM138 TMEM216 TMEM222 TMEM231 TMEM237 TMEM270 TMLHE TMTC3 TNPO2 TNRC6B TOE1 TOGARAM1 TRAK1 TREM2 TRIM8 TRIO TRIP12 TRPM3 TRRAP TSC1 TSC2 TTC19 TTC5 TUBB3 TUBG1 UBA2 UBA5 UBE3A UBE3C UBE4A UBE4B UBTF UCHL1 UFD1 UPF3B USF3 USP7 USP9X VAMP2 VCP VPS13C VPS37D WAC WARS1 WARS2 WDR26 WFS1 WWOX YWHAG YY1 ZBTB20 ZBTB7A ZFPM2 ZIC1 ZMIZ1 ZMYM2 ZMYND11 ZNF292 ZNF423 ZNF462 ZNF711 ZNFX1 ZSWIM6 HP_AUTOAMPUTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOAMPUTATION ATL1 GJB2 KIF1A KRT1 MPV17 NTRK1 RAB7A RETREG1 SCN9A SLURP1 SPTLC1 SPTLC2 TGM1 TREX1 TRPV3 VPS33B WNK1 HP_AUTOAMPUTATION_OF_DIGITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOAMPUTATION_OF_DIGITS ATL1 GJB2 KIF1A KRT1 MPV17 NTRK1 RETREG1 SCN9A SPTLC2 TGM1 TREX1 TRPV3 VPS33B WNK1 HP_AUTOIMMUNE_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY ABCC8 ACP5 ADA ADA2 AGRN ALG14 ANKRD55 APPL1 ARPC1B BACH2 BANK1 BLK C1QB C1QC C4A C4B CALR CARD10 CASP10 CCN6 CD244 CD247 CEL CHAT CHRNA1 CHRNB1 CHRND CHRNE CIITA CLPB COL13A1 COL4A5 COL4A6 COLQ COPA CR2 CRYAB CSF2RA CSF2RB CTLA4 CTNNB1 CYBC1 DEF6 DNAJC3 DNASE1 DNASE1L3 DOK7 DUT EIF2AK4 ELANE ETS1 FADD FAS FASLG FCGR2A FCGR2B FCGR3B FOXP3 GCK GFI1 GLIS3 GNAS GRIN2A HLA-B HLA-DRB1 HNF1A HNF4A HYMAI IFNG IFNGR1 IGHG1 IL10 IL12A IL12RB1 IL2RA IL2RB INS IRAK1 IRF5 ITCH ITGAM JAK2 JAZF1 KCNJ11 KIAA0319L KLF11 LACC1 LBR MECP2 MMEL1 MMP2 MPL MS4A1 MYO9A NARS2 NEUROD1 NFKB2 NFKBIL1 NLRP1 PAX4 PDCD1 PDX1 PGM3 PLAGL1 PLCG2 PLEC POMP POU2AF1 PREPL PRF1 PRKCD PTPN2 PTPN22 PXK RAPSN RASGRP1 RHAG RHCE RHD RIPK1 SAT1 SBDS SCN4A SLC18A3 SLC22A4 SLC25A1 SLC5A7 SLC7A7 SNAP25 SOCS1 SPIB SPP1 SRP19 SRP54 STAT1 STAT3 STAT4 STING1 STX16 SYT2 TCIRG1 TERC TERT TET2 THRB TLR7 TLR8 TNFAIP3 TNFSF15 TNFSF4 TNIP1 TNPO3 TOM1 TREX1 TRHR TRMT10A TSHB TSHR UBA1 UBE2L3 VAMP1 ZFP57 HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA ACP5 ADA CASP10 CD247 CD3G CIITA CTLA4 DEF6 FAS FASLG FOXP3 IL2RA IL2RB ITK LCP2 LRBA NBN NFKB1 NLRP1 PI4KA PIK3CG PNP PRKCD PSMG2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP STAT1 STAT3 STIM1 STK4 TLR8 TOM1 TPP2 TRAC TTC7A WAS ZAP70 HP_AUTOIMMUNE_THROMBOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_THROMBOCYTOPENIA ACP5 ADA ARHGEF1 CASP10 CD19 CD81 CIITA CR2 CTLA4 CTNNBL1 FAS FASLG FOXP3 GALC ICOS IL7R IRF2BP2 ITK KDM6A KMT2D KRAS LAT LRBA MAGT1 MS4A1 NFKB1 NFKB2 NRAS PNP PRKCD RASGRP1 RFX5 RFXANK RFXAP SASH3 SMPD1 SOCS1 STAT1 STAT3 TLR7 TNFRSF13B TNFRSF13C TNFSF12 TOM1 TPP2 ZAP70 HP_AUTOIMMUNITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNITY ABCB11 ABCB4 ABCC8 ACP5 ADA ADA2 ADAR AGRN AIRE AKT2 ALG14 ANKRD55 APPL1 ARHGEF1 ARPC1B ARVCF ATP8B1 BACH2 BANK1 BLK BTK C1GALT1C1 C1QA C1QB C1QC C1R C1S C2 C3 C4A C4B C8A CALR CARD10 CASP10 CAV1 CCN2 CCN6 CCR6 CD19 CD244 CD247 CD3G CD81 CDKN1B CEL CFTR CHAT CHD7 CHRNA1 CHRNB1 CHRND CHRNE CIITA CLCNKB CLPB COL13A1 COL4A5 COL4A6 COLQ COMT COPA CORIN CR2 CRYAB CSF2RA CSF2RB CTLA4 CTNNB1 CTNNBL1 CYBC1 DCLRE1C DDX41 DEF6 DNAJC3 DNASE1 DNASE1L3 DOK7 DUT EIF2AK4 ELANE ETS1 FADD FAS FASLG FCGR2A FCGR2B FCGR3B FLT1 FMR1 FOXD3 FOXP3 GALC GATA2 GCK GFI1 GLIS3 GNAS GP1BB GPR35 GRIN2A HAVCR2 HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HNF1A HNF4A HYMAI ICOS IFIH1 IFNG IFNGR1 IGHG1 IGHG2 IGKC IKBKG IL10 IL12A IL12RB1 IL18BP IL2RA IL2RB IL2RG IL6 IL7R INS IRAK1 IRF2BP2 IRF5 ITCH ITGAM ITK ITPR3 JAK2 JAZF1 JMJD1C KCNJ11 KDM6A KIAA0319L KLF11 KMT2D KRAS LACC1 LAT LBR LCK LCP2 LEMD3 LIG4 LMNB2 LRBA LSM11 MAGT1 MASP2 MC2R MECP2 MIF MMEL1 MMP2 MPL MRAP MS4A1 MST1 MTHFD1 MYO9A NARS2 NBN NEUROD1 NFKB1 NFKB2 NFKBIA NFKBIL1 NHEJ1 NLRP1 NNT NR1H4 NRAS PAX4 PDCD1 PDX1 PEPD PGM3 PI4KA PIK3CD PIK3CG PIK3R1 PLAGL1 PLCG2 PLEC PNP POLG POMP POU2AF1 PREPL PRF1 PRKCD PRTN3 PSMG2 PTEN PTPN2 PTPN22 PXK RAG1 RAG2 RAPSN RASGRP1 RFX5 RFXANK RFXAP RHAG RHCE RHD RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU7-1 RREB1 SAMHD1 SASH3 SAT1 SBDS SCN4A SEC23B SEC24C SEMA4D SEMA6B SERPING1 SLC12A3 SLC18A3 SLC22A4 SLC25A1 SLC5A7 SLC7A7 SMARCAL1 SMPD1 SNAP25 SOCS1 SPIB SPP1 SRP19 SRP54 STAR STAT1 STAT3 STAT4 STIM1 STING1 STK4 STOX1 STX16 SYT2 TBX1 TBX2 TCF4 TCIRG1 TERC TERT TET2 THRB TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFSF12 TNFSF15 TNFSF4 TNIP1 TNPO3 TOM1 TPP2 TRAC TRAPPC2 TREX1 TRHR TRMT10A TSHB TSHR TTC7A TXNRD2 UBA1 UBE2L3 UFD1 VAMP1 WAS WIPF1 ZAP70 ZFP57 HP_AUTOPHAGIC_VACUOLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOPHAGIC_VACUOLES ACTA1 ACTN2 CRYAB LDB3 LRP12 MYOT RILPL1 TNPO3 HP_AVASCULAR_NECROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS ACAN ACTB ACTG1 ADAMTS2 ADAMTSL2 ARSB ATP7A ATRX BRAF C4A CCR1 CDH23 CLCN7 COL1A1 COL1A2 COL2A1 COL9A2 COMP CREBBP CTC1 DKC1 DVL1 DVL3 DYRK1A ELP1 EP300 ERAP1 EXT1 FAS FGFR1 FN1 FZD2 GBA1 HBB HLA-B HPGD IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST INPP5K KLRC4 KRAS LMNA LMX1B MAN2B1 MATN3 MEFV MMP13 NEK9 NHP2 NOP10 NPM1 NR3C1 NTRK1 ORC1 PARN PHF6 PTPN11 RAB3GAP2 RAD21 RTEL1 SCARB2 SH3PXD2B SIL1 SKIC3 SLC2A10 SLCO2A1 SMAD3 SRCAP STAT4 TERC TERT TINF2 TLR4 TONSL TP53 TREX1 TRPS1 TRPV4 TYMS UBAC2 UFSP2 UNC45A USB1 USP48 USP8 WNT5A WRAP53 ZMPSTE24 HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS ADAMTS2 ADAMTSL2 ATP7A COL1A1 COL1A2 COL2A1 COMP CREBBP DVL1 DVL3 EP300 EXT1 FN1 FZD2 INPP5K MATN3 NEK9 RAB3GAP2 RAD21 SIL1 SKIC3 SLC2A10 SRCAP TINF2 TONSL TREX1 TRPS1 TRPV4 UFSP2 UNC45A WNT5A HP_AV_NODAL_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AV_NODAL_TACHYCARDIA CITED2 COX7B HCCS MT-CYB NDUFB11 TTN HP_AXIAL_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_DYSTONIA ALS2 CIZ1 COL6A3 COQ2 EIF2AK2 FUS GNAL HPDL MAPT MECR NDUFS3 PLA2G6 PPP2R2B SIGMAR1 SPG11 SPTLC1 HP_AXIAL_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_HYPOTONIA AARS1 ABCC8 ACER3 ACSF3 ACTL6B ADAR ADARB1 ADCY5 AIMP1 ALG11 ALG3 ALG6 AMFR AMPD2 AP3B2 AP3D1 AP4S1 ARFGEF1 ARV1 ARX ASH1L ASNS ASXL1 ATAD3A ATG7 B4GALT1 B9D1 BCS1L BRAT1 CACNA1C CACNA1E CACNA1G CACNA2D1 CACNA2D2 CAMK2A CAMK2B CAMLG CAMTA1 CASK CDH2 CDON CEP85L CERT1 CHMP1A CHP1 CLCN6 CLDN11 CLP1 COG4 COQ8A CTNNB1 DARS1 DCX DDC DDX6 DENND5A DHDDS DHPS DISP1 DLL1 DNAJC12 DNM1L DOCK6 DPAGT1 EARS2 EBF3 EBP EIF2AK2 EIF2S3 ELP2 EMC1 ERCC1 ERCC6 ERCC8 EXOSC3 EXOSC9 EXTL3 FAR1 FARS2 FARSB FBXO28 FDXR FGF12 FGF8 FGFR1 FOXH1 FOXP2 FZR1 GAD1 GALC GAS1 GDI1 GFER GFM1 GFM2 GJA5 GJA8 GJC2 GLI2 GLS GLYCTK GM2A GNB1 GNPTAB GOSR2 GPHN GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRM7 GUF1 H4C5 HACE1 HEXB HIKESHI HK1 HTT HYCC1 IER3IP1 IFIH1 INSR IREB2 KARS1 KAT6A KCNJ11 KCNMA1 KCNQ2 KCNQ3 KIDINS220 KIF1A LGI3 LIPT1 LIPT2 LMNB1 LMX1B LRRC32 LSM11 LYRM7 MACF1 MAN2B1 MBOAT7 MDH1 MECP2 MED11 MED23 MEGF10 MFF MICOS13 MINPP1 MKS1 MRPL12 MRPS22 NALCN NAPB NARS2 NAXD NDUFA1 NDUFA13 NDUFA6 NDUFB11 NDUFC2 NDUFS1 NDUFS2 NDUFV2 NECAP1 NEDD4L NEUROD2 NEXMIF NFIX NFU1 NHLRC2 NMNAT1 NODAL NONO NRROS NSMCE3 NSRP1 NSUN2 NUS1 OCLN OPA1 OSTM1 PAFAH1B1 PAM16 PARS2 PAX7 PCBD1 PCCA PCCB PCDH12 PCGF2 PCLO PDE10A PDE2A PDHX PDP1 PEX14 PEX3 PGAP1 PIGA PIGP PIGY PIK3R2 PLA2G6 PLCB1 PLCH1 PLP1 PMM2 PNPO PNPT1 PPP1R15B PRDM13 PRPS1 PRR12 PRUNE1 PSAP PSAT1 PSMC1 PTCH1 PTPN23 PTS PYCR2 RAB18 RAB3GAP2 RARS1 RARS2 REPS1 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 ROBO3 RRM2B RTTN RUSC2 RYR1 SAMHD1 SATB1 SCN1A SCO1 SDHB SEPSECS SET SHH SIX3 SLC13A5 SLC16A2 SLC18A2 SLC19A3 SLC1A2 SLC25A12 SLC25A19 SLC30A9 SLC31A1 SLC35A2 SLC35B2 SLC38A3 SLC39A14 SLC6A3 SLC6A8 SLC6A9 SMC1A SMG9 SOD1 SOX10 SOX4 SPATA5 SPEG SPR STAG2 STIL STXBP1 SUCLG1 SUOX TARS2 TBC1D2B TBCE TDGF1 TGIF1 TH TIAM1 TMTC3 TNR TRAPPC12 TREX1 TRMT10A TRNT1 TSEN15 TSEN2 TSEN34 TSEN54 TUBB3 TUBB4A TUBGCP2 UBA5 UBE3B UFC1 UGDH UGP2 UNC80 UQCRQ VAMP2 VPS11 VPS13D VPS41 WARS2 WDR45B WDR73 WWOX YIF1B ZIC2 ZNF142 ZNF526 ZSWIM6 HP_AXIAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_MUSCLE_WEAKNESS ACTA1 BAG3 BICD2 BIN1 CACNA1S CFL2 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DES DOK7 FKRP GMPPB KLHL40 KLHL41 LAMB2 LARGE1 LMNA LMOD3 MB MEGF10 MT-TL1 MT-TL2 MT-TN MT-TS1 MYBPC1 MYH7 MYL1 MYMX NEB POMT1 POMT2 RNASEH1 RYR1 SCN4A SELENON SPEG TPM2 TRIP4 TTN UNC45B HP_AXILLARY_PTERYGIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXILLARY_PTERYGIUM ADGRG6 CHRNG CHUK EFNB1 GPC6 ITGB4 MYH3 PLEC RIPK4 HP_AXONAL_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION ABCD1 APTX CTDP1 CYP27A1 DNM2 ERCC6 FLVCR1 GDAP1 GJB1 IGHMBP2 LAMA2 LMNA LRSAM1 NAGA REEP1 SEPTIN9 SERPING1 SETX SH3TC2 SLC25A21 TFG TRIM2 TXN2 HP_AXONAL_DEGENERATION_REGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION_REGENERATION GBF1 GDAP1 KIF1B LMNA LRSAM1 MFN2 MPZ RAB7A SLC12A6 HP_AXONAL_LOSS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_LOSS ADPRS ASCC1 BAG3 FIG4 GDAP1 GJB1 INF2 LMNA MOCS1 MOCS2 NDRG1 NGLY1 PMP22 RFC1 SLC12A6 SURF1 TRIP4 TYROBP UBQLN2 UBTF HP_AXONAL_REGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_REGENERATION GDAP1 GNB4 HK1 JPH1 LMNA NEFL YARS1 HP_BABINSKI_SIGN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BABINSKI_SIGN AAAS AARS1 AARS2 ABCB7 ABCD1 ABHD12 ABHD16A ACOX1 ADAR ADGRG1 ADPRS AFG3L2 AIFM1 ALDH18A1 ALS2 AMPD2 ANO10 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 APOE ARSA ARX ASPA ATG5 ATL1 ATP13A2 ATP2B3 ATP6AP2 ATP7A ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 B4GALNT1 BICD2 BRAT1 BSCL2 C19orf12 CACNA1A CACNA1G CAMSAP1 CAPN1 CAV1 CCT5 CHCHD10 CHMP2B CHP1 CLDN11 CNP CNTNAP1 COL4A1 COQ2 COX20 CPT1C CTDP1 CTSF CWF19L1 CYP27A1 CYP2U1 CYP7B1 DARS1 DARS2 DDC DDHD1 DDHD2 DEGS1 DKK1 DLAT DNAJC3 DNMT1 DPM3 DSTYK DTYMK EARS2 EEF2 EIF2AK2 EIF2S3 ELOVL1 ERCC6 ERLIN1 ERLIN2 ETHE1 FA2H FAR1 FARS2 FBXO7 FGF13 FTL FUS FXN GALC GAN GBA2 GCH1 GFAP GFM2 GJB1 GJC2 GLRX5 GPT2 GRIA3 GRID2 HADHA HADHB HPDL HSPD1 HTRA1 HTT HYCC1 IBA57 IMPDH2 IREB2 IRF2BPL JAM2 KCNA1 KCNA4 KDM5C KIF1A KIF1C KIF5A KLC2 KPNA3 KY LARGE1 LETM1 LMNB1 LYRM7 MAG MAN2B1 MCOLN1 MDH2 MECP2 MECR MFN2 MORC2 MPZ MT-ATP6 MT-TE MTPAP MTRFR MTTP NDE1 NDUFA4 NDUFS1 NDUFS4 NEFH NEFL NFASC NIPA1 NOP56 NR4A2 NT5C2 NUBPL NUP54 NUP62 OPA1 OPA3 PANK2 PARS2 PCYT2 PDYN PET117 PEX16 PGAP1 PI4KA PIGA PIGT PIK3R5 PLA2G6 PLAA PLP1 PMP2 PMP22 PNPLA6 PNPT1 POLG POLR3A POLR3B PRICKLE1 PRNP PRPS1 PRSS12 PSAP PSEN1 PYCR2 RARS1 REEP1 REEP2 RFC1 RNASEH1 RNF170 RTN2 RUSC2 SACS SAMD9L SDHA SDHAF1 SDHB SDHD SELENOI SEPSECS SETX SHMT2 SIGMAR1 SLC16A2 SLC19A3 SLC1A2 SLC1A4 SLC25A46 SLC2A1 SLC2A3 SLC33A1 SLC39A14 SLC44A1 SLC9A7 SNCA SNX14 SOD1 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 STUB1 SYNE1 TAF2 TANGO2 TARDBP TBC1D20 TBK1 TFG TGM6 TH TIMM8A TMEM63A TMEM63C TOR1A TPP1 TREM2 TRMT5 TSEN15 TSEN2 TSEN34 TSEN54 TSPOAP1 TTC19 TWNK TYROBP UBAP1 UCHL1 UFC1 UGDH VAMP1 VCP VPS13D WASHC5 WWOX ZFR ZFYVE26 ZFYVE27 HP_BACK_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BACK_PAIN ABCD1 AKT1 ALDH18A1 ANXA11 ATP7B BAP1 BRCA1 BRCA2 CAPN3 CCND1 CD46 CDKN2A CFH CFI CLCN7 COL2A1 CPOX DLL3 EMD FAR1 FHL1 FLI1 FLNC HELLPAR HGD HLA-B HMBS HTRA1 KRAS LMNA LMX1B LRP5 MATN3 MESP2 NAB2 NF2 NGF NKX3-2 PALB2 PALLD PDGFB PIK3CA PLEKHM1 POLR3GL PPOX PRKCSH RABL3 RASA1 SEC63 SLC22A12 SLC2A9 SMAD4 SMARCB1 SMARCE1 SMO SPAST SPTBN1 STAT6 SUFU SYNE1 SYNE2 TBX18 TBX6 TCIRG1 TERT TMEM43 TP53 TRAF7 TRAPPC2 VANGL1 VCP VHL WASHC5 WRN HP_BAND_KERATOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BAND_KERATOPATHY ANKRD55 CD247 COL18A1 GNAS IL2RA IL2RB JAG1 NOD2 OVOL2 PTPN2 PTPN22 SLC4A4 STAT4 VSX1 HP_BARREL_SHAPED_CHEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARREL_SHAPED_CHEST ACAN ACP5 CHST3 CILK1 COL13A1 COL2A1 DYM EIF2AK3 FUCA1 HRAS KDELR2 LBR LRP5 MYH3 P3H1 RAB33B RMRP TNFRSF11B TRAPPC2 TRIP11 TRPV4 VPS33A WNT7A HP_BARRETT_ESOPHAGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARRETT_ESOPHAGUS ASCC1 CTHRC1 FH MSR1 MYH11 RAD21 HP_BASAL_CELL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_CELL_CARCINOMA AAGAB ANAPC1 APC BMPR1A CASP10 CIB1 COL14A1 COL17A1 COL7A1 CYLD DDB2 DICER1 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 FAN1 FAS FASLG FOXE1 HRAS KEAP1 KRAS LMNA MC1R MLH1 MLH3 MMP1 MSH2 MSH6 NRAS NTHL1 OCA2 PIK3CA PMS1 PMS2 POLH PRKCD PTCH1 PTCH2 RASA1 RASGRP1 RECQL4 RMRP RPS19 RPS20 SEMA4A SMO SUFU TGFBR2 TMC6 TYMS TYR WNT10A XPC HP_BASAL_ENCEPHALOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_ENCEPHALOCELE ALX3 CDON DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL PTCH1 SHH SIX3 STIL TDGF1 TGIF1 ZIC2 HP_BASAL_GANGLIA_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CALCIFICATION ACVR1 AP1S2 CA2 CASR CYP2U1 DENND5A DNM1L ERCC3 ERCC4 ERCC6 ERCC8 EXOSC2 FAM111A GATA3 GJA1 GNA11 GNAS IFIH1 ISG15 JAM2 LSM11 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYORG OPA1 PDGFB PDGFRB PSMB8 PSMG2 RAB39B RNASEH2B RNU7-1 SAMHD1 SLC20A2 SLC25A46 SLC46A1 SNORD118 TREM2 TREX1 TYROBP XPR1 HP_BASAL_GANGLIA_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CYSTS ADAR CPT2 GFM1 LONP1 MT-ATP6 NUP54 NUP62 PDHA1 HP_BASAL_GANGLIA_GLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_GLIOSIS ADAR FARS2 LONP1 MT-ATP6 NUP54 NUP62 PDHA1 PRNP SCO2 VRK1 HP_BASILAR_IMPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASILAR_IMPRESSION COL1A1 COL1A2 DKK1 NOTCH2 ZBTB20 HP_BCGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGITIS DCLRE1C FCGR3A IL12B IRF8 ORAI1 SPPL2A STAT1 HP_BCGOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGOSIS CYBB IFNG IL12RB1 REL RORC TBX21 ZNFX1 HP_BEADED_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEADED_RIBS COL1A1 COL1A2 CREB3L1 LBR PHEX PPIB TAPT1 TRIP11 HP_BEAKING_OF_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEAKING_OF_VERTEBRAL_BODIES AGA ARSK B3GALT6 CCN6 COL11A2 COL2A1 COMP DYM FLNB FUCA1 GALNS GLB1 GNPTAB GORAB GUSB HGSNAT NEPRO NF1 NPR2 PLCB3 PRKG2 PYCR1 RINT1 RSPRY1 SERPINF1 SH3PXD2B TMCO1 HP_BELL_SHAPED_THORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BELL_SHAPED_THORAX ABCD4 ANTXR1 BMPER CANT1 CEP120 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 CSF1R CSGALNACT1 CSPP1 DDR2 DDRGK1 DYNC2I2 FGFR2 FLNB HES7 HHAT IFT172 INPPL1 KDELR2 KIAA0586 PAM16 PAX7 PEX1 SLC26A2 SNRPB TBX15 TRIP11 UBE3B XYLT1 HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM ADAMTS3 AKT1 ALX1 ALX3 ARMC5 BAP1 BMPR1A CCBE1 CCM2 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C CHEK2 COQ6 CPLANE1 CREBBP DLST EIF3F EP300 EPCAM FAM149B1 FAN1 FAT4 FGFR1 FH GCDH GLI3 GNAS IFNG KIAA0753 KIF1B KIF7 KLLN KRAS KRIT1 LMNA LZTR1 MAN2C1 MAX MBD4 MDH2 MEN1 MLH1 MLH3 MN1 MSH2 MSH6 NF1 NF2 NOTCH3 NRAS NTHL1 OCRL OFD1 PDCD10 PDE6D PDGFB PDGFRB PIK3CA PMS1 PMS2 PTEN RET RPS20 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA4A SIX6 SLC25A11 SMARCB1 SMARCE1 SMO SOX2 SUFU TCTN3 TERT TGFBR2 TIAM1 TMEM127 TMEM216 TOPORS TP53 TRAF7 TSC1 TSC2 USF3 VHL VPS16 WDPCP WRN ZSWIM6 HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS EHHADH GATM NDUFAF6 SLC34A1 SLC4A4 HP_BICONCAVE_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONCAVE_VERTEBRAL_BODIES AIP ARSK CBS COL1A1 COL1A2 COL2A1 FKBP10 FN1 GORAB IDUA IFITM5 KIF22 LRP5 MBTPS2 NANS NMNAT1 NOTCH2 NOTCH3 PYCR1 SERPINF1 TENT5A TONSL TRAPPC2 USP8 ZBTB20 HP_BICONVEX_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONVEX_VERTEBRAL_BODIES COL2A1 FN1 RMRP RNU4ATAC TRIP11 HP_BICORNUATE_UTERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORNUATE_UTERUS ALG9 BRCA1 BRCA2 BRIP1 CCNQ DHCR7 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 FOXF1 FRAS1 FREM2 GRIP1 HNF1B HOXA13 ITGA8 LARS2 LRP2 MAD2L2 MID1 MNX1 PALB2 PIGN RAD51 RAD51C RARB RFWD3 RIPK4 SETBP1 SF3B4 SLX4 SPECC1L SRY STRA6 TBX3 TNXB UBE2T WNT4 WT1 XRCC2 HP_BICORONAL_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORONAL_SYNOSTOSIS ERF FGFR1 FGFR2 H4C9 MSX2 RECQL4 SCUBE3 SMO TCF12 ZIC1 HP_BIFID_EPIGLOTTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_EPIGLOTTIS DYNC2H1 DYNC2I1 DYNC2I2 FOXE1 GLI3 IFT80 WDR35 HP_BIFID_NASAL_TIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NASAL_TIP ALX3 ALX4 ATP6V1B2 BCOR CDH11 CENPJ EFNB1 FREM1 FRMPD4 FZD2 H4C3 HNRNPK HSPA9 KAT6A NAA10 SCNM1 ZSWIM6 HP_BIFID_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NOSE ALX1 ALX3 ALX4 FREM1 HYLS1 NF1 NSMF NUAK2 PTCH1 TBX4 TFE3 ZSWIM6 HP_BIFID_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_RIBS CASZ1 GABRD HSPG2 KCNAB2 LUZP1 MMP23B PDPN PRDM16 PRKCZ PTCH1 RERE SKI SPEN TMCO1 UBE4B HP_BIFID_SCROTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_SCROTUM AR BUB1B CDH11 CDKN1C CHD7 COLEC10 CYB5A CYP17A1 DACT1 DHCR7 FAT4 FGFR2 FZD2 HMGA2 HOXA13 HOXD13 HSD3B2 IGF2 IRF6 KIFBP MAMLD1 MID1 MNX1 MTM1 MYRF NR5A1 PLAG1 POR SALL1 SEMA3E SOX9 SPTBN1 SRD5A2 SRY UPB1 ZEB2 HP_BIFID_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_TONGUE ALX3 C2CD3 CEP120 DDX59 DHCR7 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 FRAS1 FREM2 FZD2 GRIP1 HNRNPK IFT80 IPO8 MCTP2 NEK1 NXN OFD1 RIPK4 ROR2 WDR35 WNT5A HP_BIFID_URETER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_URETER COL18A1 FIBP PAK2 PBX1 PORCN HP_BIFID_UVULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_UVULA ALG3 ALG9 AMER1 AMMECR1 ASPH ATP6V1B2 B3GALNT2 B4GALT7 B4GAT1 B9D2 BCOR BGN BIN1 BMP4 CDC45 CDC6 CDH11 CDON CDT1 CHD4 COL11A1 COL11A2 COL2A1 COL4A1 CRPPA CUL3 DAG1 DDX3X DDX59 DHCR24 DHCR7 DISP1 DLG3 DLK1 DLL1 EDN1 EIF4A3 EYA1 FBXO11 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FKRP FKTN FLNA FOXH1 FTO GAS1 GJA5 GJA8 GLI2 GLI3 GMNN GNAI3 GRHL3 HAAO HNRNPK HYAL1 HYLS1 IFT140 IGBP1 IPO8 IRF6 KAT6B KCNH1 KCNK9 KCNMA1 KCNN3 KCTD1 KDM6B KIF14 KIF7 KMT2C KMT2D LARGE1 MAP3K7 MEG3 METTL23 MYL11 NODAL ORC1 ORC4 ORC6 PGAP1 PGAP2 PGAP3 PGM1 PIEZO2 PIGL PIGO PIGV PIGW PIGY PLCB4 PLCH1 POGZ POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PTCH1 PTDSS1 RECQL4 RFX7 RNU4ATAC RPL5 RPS23 RPS28 RTL1 RXYLT1 RYR1 SATB2 SEC23A SELENOI SETD5 SHH SHMT2 SIAH1 SIX1 SIX3 SKIC3 SLC2A10 SLC39A13 SMAD3 SMAD4 SMARCD1 SMC1A SMCHD1 SMPD4 SMS SNRPN SON SPEG STAC3 STAG2 STIL SUPT16H TBCE TBX1 TBX22 TCTN3 TDGF1 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TMEM231 TP63 TTN TXNL4A UBB USP9X XYLT1 ZEB2 ZIC2 HP_BILATERAL_CAMPTODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CAMPTODACTYLY APC2 FBXO28 NSD1 POLR3GL SETD2 ZNF407 HP_BILATERAL_CHOANAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CHOANAL_ATRESIA DCHS1 FAT4 FOXE1 KMT2D PAICS POLR1A SLC37A4 TP63 TXNL4A HP_BILATERAL_CLEFT_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP B3GLCT CDH1 CHUK CILK1 CTNND1 DLX4 FZD2 GLI2 IRF6 MED12 MSX1 NECTIN1 PTCH1 RAB5IF RSPO2 SIX3 SMPD4 SPOP TP63 YAP1 HP_BILATERAL_CLEFT_LIP_AND_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP_AND_PALATE CDH1 CHUK CTNND1 GLI2 MED12 NECTIN1 SIX3 SPOP YAP1 HP_BILATERAL_CONDUCTIVE_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CONDUCTIVE_HEARING_IMPAIRMENT ANKRD11 EDN1 KMT2D NFIX NOG TELO2 TNFRSF11A VARS1 HP_BILATERAL_COXA_VALGA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_COXA_VALGA CCDC47 COG8 COL9A1 COL9A2 COL9A3 ERCC6 LMX1B MAN2B1 PDE4D STXBP1 TGFB3 UBE3C UFC1 HP_BILATERAL_CRYPTORCHIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CRYPTORCHIDISM ALX4 AMH AMHR2 AR ASH1L ATP6V1A ATP6V1E1 C2CD3 CDH11 COLEC10 COLEC11 CPLANE1 CREBBP CYP17A1 DNAJC19 EP300 ERCC6 FAM149B1 FARS2 FDFT1 FGD1 GTF2H5 IFT172 IGBP1 KAT6A KIAA0753 KIF7 KLHL15 LSS MASP1 MCM5 MEGF8 NFIX NONO ODC1 OFD1 PAICS PDE6D POLE RIPK4 RPL10 RYR1 SMARCAL1 SRY TCTN3 TMEM216 TOPORS TWIST1 VPS50 WDR37 ZBTB20 HP_BILATERAL_MICROPHTHALMOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_MICROPHTHALMOS AARS1 CAPN15 CARS1 ERCC1 ERCC2 ERCC3 FAM111A FIG4 FRAS1 GDF3 GDF6 GTF2E2 GTF2H5 MED13L MPLKIP PAX6 PTCH1 PUF60 RNF113A RTTN SHH STRA6 TARS1 TCOF1 VAC14 HP_BILATERAL_PTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_PTOSIS ABCC8 ACBD5 ADNP AEBP1 ATP6V1B2 AUTS2 CDC42BPB CERT1 CHRNG CLCN3 COL25A1 COL2A1 COLQ DBH DGUOK DNM1L FLNA GCK GSN IDUA IGF1 INS ISCU KCNH1 KCNJ11 KDM1A KDM6A KIF21A KMT2D LAMB2 LRP12 MAF NAA10 NARS2 NGLY1 NOVA2 NRAS ODC1 OGDHL OPA1 PACS1 PAH PAX6 PDX1 PDZD8 PHOX2A PLEC POLG POLRMT RAD21 RNASEH1 RRM2B RYR1 SCN4A SETD5 SOS1 SPECC1L STAC3 STAT3 TBC1D24 TK2 TUBA1A TUBB2B TUBB3 TWIST1 TYMS WT1 ZFHX4 ZNF407 HP_BILATERAL_RENAL_AGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_RENAL_AGENESIS FGF20 FREM2 GFRA1 GLI3 GRIP1 HS2ST1 ITGA8 KIF14 NADSYN1 ROBO1 HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT AARS1 ACOX1 ACTG1 ADAMTSL1 ARSA ATG7 ATP6V0A4 ATP6V1B2 BSND CARS1 CATSPER2 CD109 CHCHD10 CHSY1 CLCNKA CLCNKB COA8 COL4A6 DCAF17 DNAJC19 DNAJC3 DSPP ERCC2 ERCC3 FUS GP1BA GP1BB GRXCR2 GTF2E2 GTF2H5 IARS2 IGF1 ITGA2 ITGA2B ITGB3 KCNE1 KCNQ1 LETM1 LHFPL5 LOXHD1 MAP1B MAP3K20 MARS2 MPEG1 MPLKIP MRAS MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYH14 MYO7A NARS2 NAXD POGZ POLG POU3F4 PSAP RBMX RNF113A RRM2B RTTN SIX6 SLC12A2 SOX2 SPTBN1 SQSTM1 STRC TARDBP TARS1 TBC1D24 TBK1 TUBB3 TWNK VCP YARS1 HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES BMPR1B BRD4 CCBE1 CD96 CHST3 CKAP2L DIS3L2 DPH1 DPH2 ESCO2 EXT1 FGF9 FGFR2 FGFR3 FIG4 GDF5 HDAC4 HDAC8 KAT6B MYH3 NALCN NECTIN1 NIPBL NOG NUP188 NXN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPLA6 PTPRF RAD21 RNU4ATAC ROR2 SEPSECS SMAD2 SMC1A SMC3 SMOC1 TBX4 TELO2 TNNI2 TNNT3 TPM2 TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TWIST1 HP_BILATERAL_SUPERIOR_VENA_CAVA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SUPERIOR_VENA_CAVA ACVR2B CFC1 CIROP FADD LRPPRC MED25 NCAPG2 PRKACB SLC29A3 SMAD2 ZIC3 HP_BILATERAL_TALIPES_EQUINOVARUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TALIPES_EQUINOVARUS ABHD16A B3GALT6 BMPR1B CCNQ CHD7 CLCN3 CNTNAP1 COL3A1 CTNNA2 CTU2 DHCR24 DSE EBP FANCL GDAP1 GDF5 GLB1 GLDN MAN2B1 MAN2C1 MAPK1 MFSD2A MYT1L PI4KA PIEZO2 PIGL PITX1 PLOD3 PRUNE1 PSAT1 RAB11B RBM10 RSPO2 SATB2 SH3PXD2B SLC26A2 SLC35D1 SNRPN SOX9 STAC3 SYNE1 SYT1 TRPM3 TWIST1 UBE2A VANGL1 YME1L1 ZIC3 HP_BILATERAL_TONIC_CLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE ABCC8 ACADM ACADVL ACO2 ACTL6B ACY1 ADAM22 ADGRG1 ADGRV1 ADORA2A ADPRS AFF3 AFG3L2 AGO1 AKT2 ALDH5A1 ALDH7A1 AP2M1 AP3D1 APC2 ARFGEF1 ARHGEF9 ARNT2 ARX ASAH1 ASPA ATP1A2 ATP1A3 ATP5F1D ATP6AP2 ATP6V0A1 ATP6V1A ATP6V1B2 ATRX BTD BUB1B CABP4 CACNA1A CACNA1B CACNA1D CACNA1H CACNB4 CAMK2A CAMK2B CAMTA1 CARS2 CASK CCDC88A CDC40 CDKL5 CEP85L CERS1 CERT1 CHD2 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CILK1 CLCN2 CLCN3 CLCN4 CLN3 CLN6 CLN8 CLPB CLTCL1 CNTN2 CNTNAP2 COL4A2 COQ5 COX8A CPA6 CPLX1 CRADD CRH CSTB CTLA4 CTSF CUX2 D2HGDH DEAF1 DENND5A DEPDC5 DHDDS DHX16 DMXL2 DNAJC5 DNM1 DNM1L DOCK7 DOHH DOLK DPH5 DPYSL5 DYRK1A EEF1A2 EFHC1 EPM2A ERCC6 EXOC8 EZH2 FA2H FAR1 FBXO28 FGF12 FGF13 FGFR1 FIG4 FRRS1L FZR1 GABBR2 GABRA1 GABRA3 GABRA5 GABRB3 GABRD GABRG2 GAD1 GAL GAMT GBA1 GCK GET4 GJA5 GJA8 GLRA2 GLYCTK GNAI1 GNAO1 GNB1 GOSR2 GPAA1 GPHN GPT2 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 GRN GTPBP2 GYS1 HACE1 HADHB HCN1 HCN2 HERC1 HEXB HHAT HID1 HNRNPU HSD17B4 HTRA1 IER3IP1 INS IQSEC2 IREB2 JRK KCNA1 KCNB1 KCNC1 KCNC2 KCNJ11 KCNK4 KCNMA1 KCNN2 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM6A KIF4A KMT2D KPTN LAMC3 LBR LGI1 LGI4 LMAN2L LMNB2 LNPK LONP1 MACF1 MAPK10 MAPT MARCHF6 MAST3 MECP2 METTL23 MICAL1 MOCS2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR NAA10 NARS1 NBEA NDUFA1 NDUFA2 NDUFA4 NDUFAF4 NDUFS4 NEK1 NEUROD2 NEXMIF NHLRC1 NIPA1 NPRL2 NPRL3 NR4A2 NSD1 NUP214 NUS1 OGDH OGDHL PACS2 PAK3 PCDH19 PCYT2 PDHA1 PDSS2 PDX1 PEX5 PGAP1 PGAP2 PGAP3 PHGDH PIDD1 PIGA PIGF PIGG PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PLCB1 PLCH1 PLPBP PNKP POLG PPFIBP1 PPIL1 PPP2CA PPP3CA PRPS1 PRRT2 PSAP PSEN1 PSPH PTEN PURA PUS3 PYCR2 RAB18 RELN RFX7 RNF13 ROGDI RORB RPL10 SAMD12 SARDH SARS1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEPSECS SETD1A SETD1B SETD2 SIK1 SLC12A5 SLC1A2 SLC1A3 SLC1A4 SLC22A5 SLC25A19 SLC25A22 SLC2A1 SLC32A1 SLC38A3 SLC6A1 SLC6A5 SLC7A6OS SLC9A6 SMC1A SP110 SPATA5 SPATA5L1 SQSTM1 SRPX2 ST3GAL3 ST3GAL5 STARD7 STAT3 STUB1 STX1B STXBP1 SUOX SYNGAP1 SYNJ1 SZT2 TANGO2 TBC1D24 TBCD TECPR2 THOC2 TMEM106B TMEM94 TMX2 TP53 TRAPPC11 TRAPPC6B TREM2 TRIM8 TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TUBA1A TUBA8 TXN2 UBE3A UBE4A UFSP2 VAMP2 VCP VPS13A VPS53 WAC WARS1 WDR26 WDR62 WWOX YEATS2 YIPF5 ZMYND11 ZNF142 ZNF526 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET ADAM22 ATP1A2 CEP85L CNTNAP2 DEPDC5 EPM2A FIG4 GABRG2 GAL GRIN2A IER3IP1 KCNB1 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM6A KMT2D LGI1 MAST3 MICAL1 MTFMT NHLRC1 PACS2 PDSS2 PIGA PLCB1 POLG PPFIBP1 PPP2CA PRRT2 PSAP PUS3 RELN SCN1A SCN2A SCN8A SLC12A5 SLC22A5 SLC25A22 SLC38A3 SRPX2 STXBP1 SZT2 TBC1D24 TRIM8 HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET ADGRG1 AP2M1 ASAH1 CACNB4 CHD2 CILK1 CLCN2 COQ5 COX8A CPLX1 EFHC1 EXOC8 GABRA1 GABRA5 GABRD GABRG2 GAD1 GBA1 GRIN2A IREB2 JRK KCNMA1 KCNQ3 MAST3 NARS1 NEXMIF PCDH19 PCYT2 PTEN PURA SCN1A SCN1B SCN2A SCN9A SEPSECS SLC2A1 SLC6A1 SLC9A6 SYNGAP1 TBC1D24 TMX2 TSEN15 TSEN2 TSEN34 TSEN54 UBE3A VPS53 HP_BILE_DUCT_PROLIFERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILE_DUCT_PROLIFERATION ABCB4 CC2D2A CEP290 CLDN1 CYP7B1 DCDC2 FARSB HSD17B4 KIF12 MED12 MICOS13 MKS1 NPHP3 PHKG2 POLG RPGRIP1L SLC37A4 TMEM216 TMEM67 TTC26 WDR35 HP_BILIARY_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_ATRESIA CC2D2A CLDN1 ERCC4 GATA6 INPP5E LONP1 RFX6 RPGRIP1L TCTN3 TMEM67 VPS33B ZIC3 HP_BILIARY_CIRRHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_CIRRHOSIS ABCB4 CFTR DCDC2 FCGR2A IL12A IL12RB1 IRF5 KRT18 LBR MMEL1 NPHP3 PKHD1 POU2AF1 SPIB TGFB1 TNFSF15 TNPO3 TTC26 WDR35 HP_BILIARY_TRACT_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_ABNORMALITY ABCB4 ABCC2 ABCD1 AKR1D1 ARL6 ARSA B3GLCT BBS1 BCAP31 BCS1L BMP6 BRCA1 BRCA2 CC2D2A CCDC28B CD40LG CEP290 CFTR CIITA CLDN1 CPLX1 CTBP1 CYP7B1 DCDC2 DZIP1L ERCC4 ESCO2 FARSB FCGR2A FGFRL1 FOCAD GATA6 GBA1 GCGR GPR35 HFE HNF1B HSD17B4 HSD3B7 IFT140 IGHG2 IGKC IL12A IL12RB1 IL21R IL36RN INPP5E IRF5 ITCH JAG1 KIF12 KIF3B KRT18 LBR LETM1 LMBRD1 LMNA LONP1 MED12 MICOS13 MKS1 MMEL1 MST1 NPHP3 NSD2 PEX1 PEX14 PEX2 PEX5 PHKG2 PI4KA PKHD1 POLG POU2AF1 PSAP PTPN3 REL RFX5 RFX6 RFXANK RFXAP RNF43 RPGRIP1L SCARB2 SEMA4D SLC37A4 SPIB STK11 SUPT16H TCF4 TCTN3 TGFB1 TMEM216 TMEM67 TNFSF15 TNPO3 TTC26 TTC7A UGT1A1 USP9X VPS33B WDR19 WDR35 ZFYVE19 ZIC3 HP_BILIARY_TRACT_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_NEOPLASM ARSA BMP6 BRCA1 BRCA2 DZIP1L GPR35 HFE MST1 PKHD1 PSAP PTPN3 RNF43 SEMA4D STK11 TCF4 HP_BIMANUAL_SYNKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIMANUAL_SYNKINESIA ANOS1 CCDC141 CDH2 CEP152 CHD7 DCC DNAL4 DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 GDF6 HESX1 HS6ST1 IL17RD KNL1 LARGE1 NDNF NTN1 PROK2 PROKR2 RAD51 ROBO1 SEMA3A SOX10 SPRY4 SVBP TACR3 TMEM147 WDR11 HP_BIPARIETAL_NARROWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIPARIETAL_NARROWING AHI1 ANKRD11 ARL13B ARL3 ARMC9 B9D1 B9D2 BRAF CBY1 CC2D2A CD96 CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 CUL4B DHCR7 FAM149B1 GATA4 HNRNPU HRAS HYLS1 IFT74 INPP5E KATNIP KIAA0586 KIAA0753 KIF1A KIF7 KRAS LIG4 MAP2K1 MAP2K2 MCOLN1 MEIS2 MKS1 NPHP1 NRAS OFD1 PDE6D PIBF1 PLK4 PTEN RPGRIP1L SC5D SUFU TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TUBGCP4 TUBGCP6 TWIST1 XRCC4 ZNF423 ZNHIT3 HP_BIRD_LIKE_FACIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRD_LIKE_FACIES AARS1 CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 LIG4 LMNA MPLKIP NHEJ1 POLD1 RAD50 RNF113A TARS1 WNT10A WRN XRCC4 ZMPSTE24 HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE GPC3 GPC4 MTM1 PIGA SUZ12 HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE B3GLCT CDC6 CDT1 DYRK1A EIF2S3 FIG4 HMGA2 ORC1 ORC4 ORC6 PIK3R1 PLAG1 SMAD4 SMPD4 TBCE HP_BITEMPORAL_HEMIANOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BITEMPORAL_HEMIANOPIA AIP AKT1 BAP1 BRAF CDH23 CTNNB1 MEN1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_BIVENTRICULAR_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIVENTRICULAR_HYPERTROPHY ALG12 ATP6V1E1 CACNA1D DEF6 MYH7 MYL2 MYRF NDUFA11 PRKAG2 TALDO1 TNNC1 HP_BLADDER_DIVERTICULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_DIVERTICULUM ALDH18A1 ATP7A BAZ1B BCL7B BUD23 CLIP2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DNAJC30 EFEMP2 EIF4H ELN FBLN5 FKBP14 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 LTBP1 LTBP4 MED12 METTL27 MLXIPL NCF1 PLOD1 RFC2 SALL4 STX1A TBL2 TMEM270 TP63 VPS37D HP_BLADDER_EXSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_EXSTROPHY CDH11 ISL1 KRAS MED12 PAH TP63 UPB1 HP_BLADDER_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_NEOPLASM AKT1 APC ATP7A AURKA AXIN2 BAX BRAF BUB1 BUB1B CCND1 CHEK2 CTNNB1 DCC DLC1 EP300 FGFR3 FLCN HRAS KRAS MCC MLH3 NRAS NTHL1 PDGFRL PIK3CA PLA2G2A PTEN PTPN12 PTPRJ RAD54B RB1 RNF43 SRC TLR2 TP53 HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA F13A1 F13B F8 KRT1 LMAN1 MCFD2 SLC37A4 HP_BLEPHARITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHARITIS ADAM17 APOE ARPC1B BRD4 CST6 CTC1 DDB2 DKC1 EGFR ERCC2 ERCC3 ERCC4 ERCC5 GATA1 GJB2 GJB6 HDAC8 MBTPS2 MSMO1 NHP2 NIPBL NOP10 NPM1 PARN PIGN PLCD1 PLXND1 RAD21 REV3L RTEL1 SLC39A4 SMC1A SMC3 SREBF1 ST14 TBX4 TERC TERT TINF2 TP63 TRAF3IP2 TYMS UROD UROS USB1 WAS WIPF1 WRAP53 XPA XPC HP_BLEPHAROCHALASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROCHALASIS ADAMTS2 CDH11 COL1A1 COL5A1 COL5A2 GSN HP_BLEPHAROPHIMOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROPHIMOSIS ALG14 ALX4 ANK1 ATP6V1A ATP6V1E1 ATR BAZ1B BCL7B BCOR BCR BRCA1 BRPF1 BUD23 CDK13 CEP152 CEP57 CHN1 CLIP2 COL25A1 COLEC10 COLEC11 CREBBP CRKL CUL4B DACT1 DCHS1 DDR2 DGCR2 DGCR6 DGCR8 DLK1 DNAJC30 DNMT3A EIF4H ELN EP300 ERCC1 ERCC6 ESS2 FANCD2 FAT4 FKBP6 FOXG1 FOXL2 FOXP1 GATAD2B GJA1 GPC6 GPKOW GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HHAT HNRNPH1 HSPG2 HUWE1 IRX5 KANSL1 KAT6B KCNJ2 KCTD1 KMT2A KRAS LIG4 LIMK1 MAFB MAPK1 MAPRE2 MASP1 MCTP2 MECP2 MED12 MEG3 METTL27 MLXIPL MOGS MUSK MYCN MYH3 MYL11 NCF1 NFIB NSUN2 ODC1 ORC1 PAX3 PHF6 PIEZO2 PRIM1 RAB18 RBMX RECQL4 RERE RFC2 RHOA RIPK4 RTL1 SALL1 SALL4 SCARF2 SEPTIN9 SETD5 SF3B2 SLC2A10 SLX4 SMAD4 SMARCA2 SMO SMOC1 SOX9 STAC3 STRA6 STX1A TBC1D2B TBL1XR1 TBL2 TBX1 TBX15 TLK2 TMEM270 TP63 TUBB TXNL4A UBE3B UGDH VPS37D WDR35 ZFHX4 ZMPSTE24 HP_BLINDNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLINDNESS ABCA4 ABCD1 ACTB ADAMTS10 AGBL5 AHI1 AHR AIP AIPL1 AKT1 ALMS1 ARHGEF18 ARL2BP ARL3 ARL6 ARNT2 ASNS ASPA ATIC ATOH7 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATRX ATXN7 B3GALNT2 B4GAT1 BAP1 BBS1 BBS2 BCOR BEST1 BMP4 BTNL2 C4A CA4 CAPN5 CC2D2A CCR1 CD109 CDH23 CDH3 CDHR1 CEP164 CEP290 CERKL CFAP418 CLCN7 CLN3 CLRN1 CNGA1 CNGB1 COL2A1 COX7B CRB1 CREBBP CRX CTC1 CTNNB1 CTNS CYP4V2 DHDDS DHX37 DHX38 EIF2B1 ERAP1 ERCC4 EYS FAM161A FAS FBN1 FDXR FKRP FKTN FLVCR1 FOXRED1 FRAS1 FREM2 FSCN2 FZD4 GALC GATA1 GJB2 GLB1 GM2A GMPPB GNAQ GNAS GP1BA GP1BB GRIP1 GUCA1B GUCY2D HCCS HEXA HEXB HGSNAT HLA-B HLA-DRB1 HPS1 HSD17B10 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT88 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 ITGA2 ITGA2B ITGB3 KIAA1549 KIF11 KIF14 KIZ KLHL7 KLRC4 LAMB2 LARGE1 LONP1 LRAT LRP5 MAK MEFV MEN1 MERTK MFSD8 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MTR MTRR MTTP NAA10 NDE1 NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NF1 NF2 NLRP3 NR2E3 NRL NSMCE2 NUBPL OAT OFD1 OPA1 OPA3 PANK2 PCARE PDE6A PDE6B PDE6G PDGFB PDHA1 PEX6 PGK1 PIK3CA PIK3R2 PITX3 PLA2G6 PLG PLOD1 POGZ POLG POMGNT1 POMK POMT1 POMT2 PPT1 PQBP1 PRCD PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PSAP RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SARDH SCAPER SCN1A SDHA SDHAF1 SDHB SDHD SEMA4A SLC7A14 SMARCB1 SMARCE1 SMCHD1 SMO SNRNP200 SPATA7 SREBF1 STAT4 SUFU TBC1D24 TCIRG1 TERT TIMMDC1 TIMP3 TLR4 TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TNFSF11 TOPORS TRAF7 TSPAN12 TTC8 TUB TULP1 UBAC2 UFM1 UROD UROS USH2A XRCC4 ZNF408 ZNF423 ZNF513 HP_BLIND_VAGINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLIND_VAGINA AR CYP17A1 MAMLD1 MTM1 WT1 HP_BLISTERING_BY_ANATOMICAL_LOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_ANATOMICAL_LOCATION CD151 COL17A1 COL2A1 COL7A1 DSG1 DSG3 FBXO28 FERMT1 ITGA6 ITGB4 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA3 LAMB3 LAMC2 MMP1 PKP1 PLEC SMARCAD1 HP_BLISTERING_BY_HISTOLOGICAL_LOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_HISTOLOGICAL_LOCATION CDSN COL17A1 COL7A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 MMP1 PLEC HP_BLOCK_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOCK_VERTEBRAE DLL3 FLNB HES7 MESP2 SF3B2 ZIC3 HP_BLOODSTREAM_INFECTIOUS_AGENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODSTREAM_INFECTIOUS_AGENT CD27 CTPS1 DEF6 ELANE IKZF3 IL2RB ITK LAT MAGT1 PGM3 PIK3R1 PRKCD REL STK4 TET2 TNFRSF9 TOM1 TPP2 TRAC HP_BLOODY_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODY_DIARRHEA ACVRL1 ADAM17 AMACR APC ARPC1B ATRX BMPR1A CARD8 CD109 CDKN1A CDKN1B CDKN2B CDKN2C COX15 CYP7B1 DAXX EGFR ENG F5 FAH GP1BA GP1BB GREM1 HPS1 IFIH1 IL10RA IL37 ITGA2 ITGA2B ITGB3 KIF23 MEN1 PI4KA PLVAP PTEN RACGAP1 RBCK1 SKIC2 SKIC3 SMAD4 SREBF1 STK11 TAOK1 TGFB1 TTC7A WAS WIPF1 HP_BLUE_IRIDES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_IRIDES BAZ1B BCL7B BLOC1S3 BUD23 CLIP2 DNAJC30 EDN3 EDNRB EIF4H ELN FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HERC2 KITLG LIMK1 MAPK1 MC1R METTL27 MITF MLXIPL NCF1 OCA2 PAH PAX3 PDE4D PRKAR1A PRR12 RFC2 RLIM SLC45A2 SNRPN SOS1 SOX10 STX1A TBL2 TMEM270 TP63 TYR TYRP1 UBE3A VPS37D HP_BLUE_NEVUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_NEVUS ARL6IP6 CAMK2A FOCAD GNA11 HEXB HRAS PDE11A PRKAR1A PUS3 TASP1 TYRP1 HP_BLUE_SCLERAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_SCLERAE ABCC6 ADAMTS2 ALPL ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 BCL11A BMP1 C1R CA2 CANT1 CHST14 CHST3 CHSY1 COG4 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 CREB3L1 CRTAP CSGALNACT1 CTSK CYB5A CYB5R3 DSE DVL1 DVL3 ENPP1 ESCO2 EXOSC1 FBN1 FKBP10 FKBP14 FZD2 GDF11 GHR GNB2 HECTD4 HGD IFITM5 IGF2 IKBKG INPPL1 IPO8 KDM1A KDM6A KIFBP KMT2A KMT2D LRP5 MAP3K7 MBTPS2 MED27 MEGF8 MESD MSX2 MVK NFIX NXN P4HB PAX1 PGM1 PLOD1 POLR3A POLRMT PPIB PPP1R15B PPP1R21 PRDM5 PRKG2 PRMT7 PUS3 PYCR1 RMRP ROR2 RPS23 RYR3 SEC24D SERPINH1 SLC26A2 SLC39A13 SON TELO2 TENT5A TGFB3 TGFBR1 TGFBR2 TMEM163 TMEM38B TRMT10A TRMT5 UNC45A WASF1 WNT1 WNT5A WWOX XYLT1 ZNF469 HP_BLURRED_VISION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLURRED_VISION ABCA1 APOA1 ATP1A2 CACNA1A CLCNKB COL17A1 COL4A1 COL8A2 DBH DNAJC30 GRHL2 HGSNAT HLA-A HLA-DRB1 KCNA1 LCA5 LRAT MAPT MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NDUFS2 NLRP3 NOP56 OVOL2 RPE65 SCN4A SCN9A SLC12A3 SLC4A11 SOST SPATA7 TACSTD2 TGFBI TRANK1 VSX1 ZEB1 HP_BONE_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_CYST AGPAT2 AKT1 B2M BSCL2 BTNL2 CAV1 CAVIN1 FGFR1 FOS GNAS HLA-DRB1 KLLN KRAS NF1 NOTCH3 PDGFRB PIK3CA PPARG PRG4 PTEN SDHB SDHC SDHD SEC23B SH3BP2 TREM2 TYROBP USF3 VDR ZBTB20 HP_BONE_FRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_FRACTURE ANAPC1 ATL3 CLCN7 EXT1 EXT2 FGF23 GALT GNAS LBR MOGS MTAP SLC2A2 SQSTM1 TAPT1 TBCD TNFRSF11A TRPV6 UBA1 HP_BONE_MARROW_FOAM_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_FOAM_CELLS LIPA NEU1 NPC1 NPC2 SMPD1 HP_BONE_MARROW_HYPERCELLULARITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPERCELLULARITY ASXL1 BCOR CALR CASP10 CXCR4 FAS FASLG FIP1L1 IRF2BP2 JAK2 KIT MPL NABP1 NPM1 NUMA1 PML PRKAR1A PRKCD RARA RASGRP1 RPS14 SLC7A7 SRC SRSF2 STAT3 STAT5B TBL1XR1 TET2 ZBTB16 HP_BONE_MARROW_HYPOCELLULARITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPOCELLULARITY ACD ADA2 ADH5 BRCA2 BRIP1 CA2 CASP10 CLCN7 CLPB CTC1 DCLRE1B DDX41 DKC1 DNAJC21 EFL1 ERCC4 ERCC6L2 FANCC FANCD2 FANCF FANCI FANCL FAS FASLG FLI1 GATA1 GATA2 GNAS IFNG IVD LBR MAD2L2 MDM4 MYSM1 NBN NHP2 NOP10 NPM1 PARN PGM3 PRF1 PRKCD RAD51 RASGRP1 RPA1 RPL26 RPS14 RTEL1 SAMD9 SBDS SF3B1 SMARCAL1 SRP54 SRP72 STN1 TBXAS1 TERC TERT TET2 TGFB1 TINF2 TLR8 TYMS UBE2T USB1 VPS33A WDR19 WRAP53 ZCCHC8 HP_BONE_MARROW_MATURATION_ARREST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_MATURATION_ARREST CLPB CSF3R FLNA JAGN1 SMARCD2 WAS HP_BONE_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_PAIN AGXT AP2S1 ASXL1 ATP7B BCOR CBL CCND1 CDC73 CLCN5 CLCN7 CYP19A1 CYP27B1 CYP2R1 DKK1 DMP1 EHHADH ELANE ENPP1 EXT1 FGF23 FIP1L1 FOXE1 GATM GBA1 GNAS HABP2 HPGD IDH1 IDH2 IL1R1 IRF2BP2 KIF1B KIT LEMD3 LPIN2 MINPP1 NABP1 NDUFAF6 NOTCH2 NPM1 NUMA1 PHEX PML POLE PRKAR1A PSAP PSMB8 PTH1R PTPN11 RAD21 RARA RUNX1 SCARB2 SERPINF2 SLC34A1 SLC34A3 SLCO2A1 SNX10 SQSTM1 SRSF2 STAT3 STAT5B TBL1XR1 TCIRG1 TEK TET2 TGFB1 TNFRSF11A TNFRSF1A TNFSF11 TREM2 TRPS1 TYROBP VCP VDR WNT1 WNT3A ZBTB16 ZNF687 HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA ABCA4 AGBL5 ARL3 ARL6 ARSG BBS1 BBS9 CCDC28B CFAP410 CFAP418 CHM CLCC1 CLRN1 CNGA1 CNGB1 CNNM4 CRB1 CRX DHX38 EYS FAM161A FLVCR1 FSCN2 GRM6 GUCY2D HGSNAT HK1 IDH3A IFT140 IFT43 IMPDH1 IMPG2 KIAA1549 LCA5 LRAT LZTFL1 MAK MFRP MKS1 NMNAT1 NRL PCARE PDE6A PDE6B PDE6G PISD POC1B POMGNT1 PRCD PROM1 PRPF31 PRPF6 PRPF8 RAX2 RBP3 RDH11 RDH12 REEP6 RHO RLBP1 RP1 RP1L1 RP9 RPE65 RPGR RRM2B SAG SCAPER SEMA4A SLC7A14 SNRNP200 SPATA7 TTC8 TULP1 USH2A VPS13B ZNF408 ZNF513 HP_BOWED_FOREARM_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWED_FOREARM_BONES B2M B3GALT6 CHST3 CILK1 COL11A1 COL2A1 FGF23 FGFR2 FGFR3 FLNA FLNB GDF5 GLI3 HOXA11 IFT43 IHH LAMA5 LBR MMP13 NPR2 P3H1 PCNT POR PRKG2 RBM8A RECQL4 RIPK4 ROR2 SCARF2 SHOX SLC26A2 TMEM67 TRPV4 VPS35L WNT7A HP_BOWED_HUMERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWED_HUMERUS B3GALT6 FLNB KIAA0753 LAMA5 LBR RNU4ATAC RSPO2 SPARC HP_BOWEL_DIVERTICULOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWEL_DIVERTICULOSIS AKT1 ALDH18A1 BAZ1B BCL7B BUD23 CLIP2 COL5A1 DNAJC30 EFEMP2 EIF4H ELN ERBB3 FBLN5 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 LTBP1 METTL27 MLH1 MLXIPL MSH2 NCF1 PIK3CA PKD1 POLG PTEN RET RFC2 STX1A TBL2 TMEM270 TYMP UBR1 VPS37D HP_BOWING_OF_THE_ARM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_ARM B2M B3GALT6 CHST3 CILK1 COL11A1 COL2A1 FGF23 FGFR2 FGFR3 FLNA FLNB GDF5 GLI3 HOXA11 IFT43 IHH KDELR2 KIAA0753 LAMA5 LBR MBTPS2 MMP13 NPR2 P3H1 PCNT POR PRKG2 RBM8A RECQL4 RIPK4 RNU4ATAC ROR2 RSPO2 SCARF2 SHOX SLC26A2 SP7 SPARC TMEM67 TRIP11 TRPV4 VPS35L WNT7A HP_BOWING_OF_THE_LEGS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_LEGS ACAN ACP5 ACTA1 ADNP ALPL ANAPC1 ARCN1 ARSB ARSK ATP7A ATRX B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BGN BHLHA9 BMP1 BPNT2 BRAF BRF1 BUD23 CAMK2A CANT1 CBFB CBS CCDC47 CCN6 CDC45 CENPT CFL2 CHST3 CILK1 CLCN5 CLCN7 CLIP2 CLTCL1 COG5 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CRTAP CSGALNACT1 CTC1 CTNS CYP19A1 CYP27B1 CYP2R1 CYP3A4 DDR2 DDRGK1 DLK1 DMP1 DNAJC30 DYM DYNC2H1 DYNC2I1 DYNC2LI1 EFL1 EHHADH EIF2AK3 EIF4H ELN ENPP1 EVC EVC2 EXT1 EXT2 FBN1 FGF23 FGFR2 FGFR3 FIBP FKBP6 FLNA FLNB FN1 GALNS GAN GDF5 GLB1 GLI1 GNPTG GORAB GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HBB HEATR3 HERC2 HPGD HS2ST1 HS6ST1 HSPG2 IARS2 IDH1 IDUA IFIH1 IFT172 IFT57 IHH IL6ST IPO8 KAT6A KDELR2 KIF22 KIF7 KLHL41 KRAS LAMA5 LBR LIFR LIMK1 LMOD3 LONP1 LRP5 LTBP1 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MATN3 MBTPS2 MCTP2 MEG3 MEGF8 METTL27 MKRN3 MLXIPL MMP13 MMP9 MPZ MTAP MTX2 NCF1 NDUFAF6 NEB NEK8 NEK9 NEPRO NF1 NKX3-2 NOTCH2 NPAP1 NSD1 OCRL ORC1 ORC6 P3H1 P4HTM PAPSS2 PCNT PCYT1A PDGFRB PEPD PHEX PLOD2 PMP22 POLR1A POLR3A POLRMT POR PRKACA PRKACB PRKG2 PUS3 PWAR1 PWRN1 RAB23 RAB33B RAD21 RBM8A RECQL4 RFC2 RMRP RNU4ATAC RPGRIP1L RPL13 RSPRY1 RTL1 RUNX2 SATB2 SCARF2 SERPINH1 SETBP1 SF3B2 SFRP4 SGMS2 SHOX SKI SLC10A7 SLC26A2 SLC34A1 SLC34A3 SLCO2A1 SMOC1 SNORD115-1 SNORD116-1 SOX9 SP7 SPART SPTBN1 STX1A TBC1D7 TBL2 TCTN3 TENT5A TFE3 TGDS TGFB1 TMEM270 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TONSL TPM2 TRIP11 TRPS1 TRPV4 TRPV6 TUBB3 UFSP2 UGP2 VDR VPS13B VPS37D WDR62 WNT7A XYLT1 ZBTB20 ZEB2 ZNF699 ZPR1 HP_BRACHYCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYCEPHALY ACOX1 ADAMTS10 ADAMTSL1 ADARB1 ADNP ADSL AGA ALDH18A1 ALG9 ALX1 ALX4 AMER1 ANKRD11 ANKRD17 ARID1B ATIC ATP2B1 ATP6V1B2 ATP7A AUTS2 B3GAT3 B3GLCT BAP1 BMP4 BRAF BRD4 BUB1B CA2 CAMK2A CASZ1 CCDC47 CD19 CD81 CDH11 CDK10 CHST14 CHST3 CLCN3 CNOT3 COL11A1 COL2A1 CR2 CTU2 CYP26B1 DDX3X DEAF1 DPH1 DPH2 DPYSL5 DSE EFNB1 EHMT1 ERF ESCO2 EXT2 FAM20C FBN1 FBN2 FGFR1 FGFR2 FGFR3 FHL1 FKBP10 FKTN FLII FOXF1 FREM1 FUCA1 GABRD GALNT2 GATA1 GBA1 GET4 GJA1 GJA5 GJA8 GNB2 GOLGA2 GRIA3 H3-3B H4C5 HCFC1 HDAC4 HDAC8 HNRNPR HSPA9 HSPG2 HUWE1 ICOS IL11RA INTU IPO8 IQSEC2 IRF2BP2 IRX5 KCNAB2 KDM1A KIDINS220 KMT2C LIG4 LMX1B LRP5 LRPPRC LUZP1 MAF MAN2B1 MBD5 MECP2 MED12 MED13L MEGF8 MESD MGAT2 MMP14 MMP2 MMP23B MN1 MS4A1 MSX2 MTX2 NALCN NANS NBAS NEK1 NFKB1 NFKB2 NGLY1 NIPBL NOVA2 OTUD6B PAICS PCGF2 PCLO PDE4D PDPN PEX1 PGAP2 PGAP3 PHF21A PIGA PIGL PIGO PIGT PIGV PIGW PIGY PNPLA6 POGZ POLR1B POLR1C POLR1D POLR2A POLR3A POR PQBP1 PRDM16 PRKAR1A PRKCD PRKCZ PRKD1 PRMT7 PTCH1 PTCH2 PTH1R PTPN11 PTRH2 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAF1 RAI1 RALGAPA1 RBM8A RECQL4 RERE RFX7 RMRP RNF216 RNU12 RUNX2 SATB1 SATB2 SETBP1 SETD5 SH3PXD2B SKI SLC12A6 SLC25A24 SMC1A SMC3 SMG9 SMS SNRPN SP7 SPECC1L SPEN SPOP SRD5A3 STAC3 STXBP1 SUFU SYT1 TAF8 TAPT1 TBC1D20 TBC1D24 TBL1XR1 TBX2 TCF12 TCF20 TCOF1 TDP2 TECPR2 TET3 TGFB3 TMCO1 TNFRSF13B TNFRSF13C TNFSF12 TRAPPC9 TRIP12 TRPV6 TTC5 TTC8 TUBB TWIST1 UBE3A UBE3B UBE4B UNC80 UPF3B USP7 USP9X WAC WASHC5 XRCC4 ZBTB20 ZC4H2 ZDHHC9 ZIC1 ZMYND11 ZSWIM6 HP_BRACHYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYDACTYLY ACAN ADAMTS10 ADAMTS17 ADNP AFF4 AHSG AIFM1 AKT1 ALG6 ALG8 ALX1 ALX3 ANTXR2 APC2 ARHGAP31 ARID1A ARID2 ARL6 ATP6V1B2 ATP7A ATRX B3GLCT BAP1 BBIP1 BBS1 BBS4 BBS5 BBS9 BGN BHLHA9 BMP2 BMP4 BMPR1B BPNT2 BRAF C12orf57 CAMK2G CANT1 CASZ1 CBL CCDC22 CCDC28B CCDC32 CDH11 CEP120 CEP55 CHD7 CHN1 CHRNA7 CHST11 CHST3 CHSY1 CILK1 CITED2 COL11A1 COL11A2 COL2A1 COMP CPLANE1 CRIPT CSGALNACT1 CSNK2A1 CSPP1 CTSK CUL4B CWC27 DBH DCPS DDX3X DEAF1 DHCR7 DLL4 DOCK6 DONSON DPF2 DPH2 DPYSL5 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EFNB1 EHMT1 EOGT EPB41L1 ERF ESCO2 EVC EVC2 EXOSC2 EXT1 EXTL3 FAM111A FAM149B1 FAM20C FBN1 FBXO28 FBXW11 FGD1 FGF9 FGFR1 FGFR2 FGFR3 FLII FLNA FLNB FLT4 FTO FZD2 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GDF6 GHR GJA1 GJA5 GJA8 GJB3 GJB4 GLI3 GNAS GNAS-AS1 GNB2 GPC4 GPX4 GRB10 HDAC4 HEATR3 HHAT HNRNPR HOXA13 HOXD13 HRAS HSPG2 HUWE1 IARS2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IGF2 IHH INPP5K INPPL1 IQSEC2 ITGB6 JAG1 KAT6A KAT6B KCNAB2 KCNJ2 KCNK4 KDM1A KDM5C KDM6A KDR KDSR KIAA0586 KIAA0753 KIF15 KIF26A KIF7 KLF13 KLLN KRAS LBR LIFR LIG4 LMNA LONP1 LSS LTBP1 LTBP2 LTBP3 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAF MAFB MAGEL2 MAP2K1 MAP3K7 MARS1 MBTPS1 MED12 MEGF8 MGAT2 MIR140 MIR17HG MKKS MMP23B MRAS MRPS16 MSX2 MYCN MYMK MYMX MYSM1 NBAS NEK1 NEPRO NIN NKX2-5 NKX2-6 NLRP3 NOG NOTCH1 NOTCH2 NPR2 NRAS NSUN2 NXN OFD1 PAH PAPSS2 PAX3 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PGM3 PIGK PIGL PIGN PIGS PIK3CA PIK3R1 PITX1 PLCB3 PLXND1 PNPLA6 POC1A POGZ POMP POP1 POR PORCN PPM1D PPP1CB PPP3CA PRDM16 PRKACB PRKAR1A PRKAR1B PRKCZ PRMT7 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTHLH PTPN11 PUF60 RAB23 RAD21 RAF1 RAI1 RASA2 RB1 RBBP8 RBPJ RDH11 RERE REV3L RHOA RIN2 RIT1 RLIM RMRP RNU4ATAC ROR2 RPS6KA3 RRAS RRAS2 RSPRY1 RUNX2 SALL4 SCNM1 SCUBE3 SDHB SDHC SDHD SEC23B SEMA3E SH3PXD2B SHOC2 SHOX SIK3 SIL1 SIN3A SKI SLC26A2 SLC2A1 SLC35C1 SLC35D1 SLURP1 SMAD4 SMARCA2 SMARCD2 SMC1A SMC3 SMG9 SNRPN SNX14 SOS1 SOS2 SPART SPECC1L SPEN SPRED2 SRCAP STAMBP STX16 SUFU TASP1 TBX1 TBX15 TBX22 TCF12 TCTN3 TELO2 TFAP2B TGFBR2 TLK2 TMEM216 TMEM67 TNNT3 TONSL TOPORS TRIO TRIP11 TRPS1 TRPV4 TTC21B TWIST1 TWIST2 UBE4B UPF3B USF3 VPS35L WAC WASHC5 WDR11 WDR19 WDR35 WNT4 WNT5A YY1AP1 ZDHHC9 ZFPM2 ZIC1 ZMIZ1 HP_BRACHYTURRICEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYTURRICEPHALY FAM20C FGFR1 FGFR2 FHL1 PEX1 RECQL4 SKI SP7 SYT1 HP_BRADYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYCARDIA ABCA3 ACTA1 ACY1 AKAP9 ANK2 ASXL1 BRAT1 BVES CACNA1C CACNA1D CACNA2D1 CALM1 CALM2 CALM3 CASQ2 CAV3 CAVIN1 CLN3 COQ4 COQ9 DES DOLK DST DUOX2 DUOXA2 ECHS1 EFEMP2 GFM2 GLUL GLYCTK GNB2 GNB5 GRIN1 HCN4 HEPHL1 HESX1 HTRA2 IYD KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 LAMA3 LAMB3 LAMC2 LHX3 LHX4 LIPT1 LMNA MTO1 MYL4 MYO1H NDUFA2 NDUFA8 NOS1AP NPPA PAX8 POU1F1 PPA2 PRKAG2 PROP1 SCN10A SCN4A SCN4B SCN5A SCN9A SCO1 SFTPB SFTPC SGO1 SLC25A20 SLC4A3 SLC5A5 SNTA1 TBX5 TG TLL1 TMEM43 TNNI3K TNNT2 TPO TRDN TRPM4 TSHB TSHR TSPYL1 TWNK UQCRFS1 USP18 HP_BRADYKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYKINESIA ACTA1 ADGRV1 ADH1C ATL1 ATP13A2 ATP1A3 ATP5MK ATP6AP2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS CHCHD2 CLN3 CLTC COASY COQ2 CSF1R DCTN1 DHDDS DNAJC12 DNAJC13 DNAJC6 EARS2 EIF2AK1 EIF2AK2 EIF4G1 FARS2 FBXO7 FGF13 FMR1 FTL GABRA1 GABRD GABRG2 GBA1 GCH1 GIGYF2 GLUD2 HCN1 HTRA2 HTT IMPDH2 JAM2 JPH3 KBTBD13 KCNC3 KCNN2 KLHL41 LRRK2 MAPT MECP2 MT-TT MYORG MYPN NEB NR4A2 PANK2 PARK7 PCDH19 PDE8B PDGFB PDGFRB PET117 PIDD1 PINK1 PLA2G6 PODXL POLG POLG2 PPP2R2B PRDX3 PRKAR1B PRKN PRKRA PRNP PTS RAB39B RRM2B SCN1A SCN1B SCN2A SCN9A SLC20A2 SLC25A4 SLC2A3 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SPR STX1B SYNJ1 TACO1 TAF1 TBP TENM4 TH TK2 TPM2 TPM3 TSPOAP1 TTC19 TWNK UBAP1 UCHL1 UQCRC1 VPS13A VPS13C VPS35 WDR45 HP_BRADYPHRENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYPHRENIA CLTC DMPK HTT NOTCH3 SLC2A3 VPS13A HP_BRAIN_IMAGING_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_IMAGING_ABNORMALITY ABCD1 ACAT1 ACP5 ADORA2A AKT1 ALG1 ALG12 AP2M1 APC2 APOE ASPA ATAD3A ATN1 ATP10A ATP1A2 ATP1A3 BAP1 BTD CACNA1A CACNA1G CACNG2 CDC42 CHD2 CHMP2B CNP COG8 COL25A1 COQ2 COX11 COX16 CREBBP CYP27A1 DEAF1 DEPDC5 DHPS DNM1L DPAGT1 DYRK1A ECHS1 EHMT1 EIF2AK3 EP300 ERGIC1 FARS2 FBXO28 FOCAD FOXP1 GALC GAMT GATM GFM2 GRM7 GRN HMBS HPDL HSD17B10 HTRA2 IARS1 IBA57 KARS1 KCNQ2 KCNQ3 KMT2C LGI1 LYRM4 LYRM7 MAGEL2 MAPT MECR MRPS34 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTRFR NAT8L NAXE NDUFAF6 NDUFB7 NEXMIF NF1 NF2 NGLY1 NIPA1 NIPA2 NSD1 PDE2A PDGFB PDP1 PIK3CA POLR3A POLRMT PRNP PRRT2 PSAP PSEN1 PSEN2 PURA RAI1 RELN RERE RPIA SATB2 SCN1A SCN2A SCN8A SCYL2 SDHAF1 SDHB SDHD SETD2 SH2B1 SIM1 SIN3A SIN3B SLC1A3 SLC25A12 SLC2A1 SLC35A2 SLC39A8 SLC6A1 SLC6A8 SMARCB1 SMARCE1 SMO SNRPN SPRED1 SQOR SQSTM1 SUCLG1 SUFU SYNGAP1 TBCK TBL1XR1 TELO2 TERT TMEM106B TRAF7 TRANK1 TREM2 TREX1 TUBB6 TUBG1 UBE3A USP7 VARS2 VCP VPS33A WDR26 HP_BRAIN_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_NEOPLASM AAGAB APC CHMP2B COL14A1 FLI1 GRN MAPT NF1 POLD1 POLE PSEN1 RB1 RELA TMEM106B TREM2 VCP ZFTA HP_BRAIN_STEM_COMPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_STEM_COMPRESSION AKT1 BAP1 DKK1 FGFR3 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TNFRSF11A TRAF7 HP_BRANCHIAL_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_ANOMALY BCR CRKL EYA1 HNRNPK KMT2D MAPK1 POLR1B POLR1C POLR1D PUF60 RPL10 SF3B2 SIN3A SIX1 SIX5 TCOF1 TFAP2A WAC HP_BRANCHIAL_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_CYST EYA1 KMT2D PUF60 RPL10 SIX1 SIX5 HP_BRANCHIAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_FISTULA BCR CRKL EYA1 MAPK1 POLR1B POLR1C POLR1D SIN3A SIX1 TCOF1 HP_BREAST_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_APLASIA CDC45 CDC6 CDT1 DYRK1A ESR1 GMNN IKBKG KCTD1 LMNA ORC1 ORC4 ORC6 PLXND1 REV3L TBX3 TP63 TWIST2 HP_BREAST_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_CARCINOMA AAGAB AKT1 APC ATM ATR AXIN2 BARD1 BRCA1 BRCA2 BRIP1 CASP8 CDH1 CDKN2A CHEK2 COL14A1 CTNNB1 ERBB2 ESR1 FGFR2 GNAS HMMR IDH1 IDH2 KLLN KRAS MDM2 MEFV MLH1 MRE11 MSH2 MSH6 NBN NF1 NQO2 NTHL1 OPCML PALB2 PALLD PHB1 PIK3CA POLD1 POLE PPM1D PRKN PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RAD54L RB1CC1 RNF43 SDHB SDHC SDHD SEC23B SLC22A18 SLC6A17 SMAD4 STK11 TP53 TWIST1 USF3 WRN XRCC3 HP_BREAST_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_HYPOPLASIA ACTB ANOS1 ANTXR1 CCDC141 CDT1 CHD7 DCC DUSP6 EFNB1 ESR1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FSHB GNRH1 GNRHR HESX1 HS6ST1 IKBKG IL17RD KISS1 KISS1R MAF NDNF NHLH2 NIN NSMF ORC1 ORC4 ORC6 POC1A PROK2 PROKR2 SEMA3A SOX10 SPRY4 TAC3 TACR3 TBX3 TP63 TWIST2 USP9X WDR11 YY1 HP_BREATHING_DYSREGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREATHING_DYSREGULATION ACTC1 AHI1 ASCL1 CEP290 CITED2 ELP1 GATA4 GATA6 INPP5E KYNU MYH6 NDUFS6 NKX2-5 PHOX2B RET RPGRIP1L TBX20 TLL1 TMEM216 TMEM67 HP_BREECH_PRESENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREECH_PRESENTATION ACTA1 ACY1 ASH1L ASXL3 CFL2 CHST3 COL1A1 COL1A2 COL25A1 CRTAP DHCR7 DST DTYMK ERGIC1 FGFR3 HACD1 HERC2 HNRNPK IARS2 KBTBD13 KDM3B KLHL40 KLHL41 LMOD3 LTBP4 MAGEL2 MKRN3 MKS1 MYH3 MYPN NEB NPAP1 OPA1 ORC1 PEX1 PIGA POR PRKAG2 PTPN23 PWAR1 PWRN1 RMRP RNU4ATAC RYR1 SCN4A SCYL2 SHPK SLC26A2 SNORD115-1 SNORD116-1 SON TPM2 TPM3 UQCC2 VARS1 ZNF699 HP_BRISK_REFLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRISK_REFLEXES AASS ADSL ALDH18A1 ALS2 ANO10 ATG5 ATP13A2 BCAT2 BSCL2 CADM3 CAMTA1 CARS1 CDC40 CHMP1A CNP COG5 COQ5 COQ8A COX10 COX11 COX5A DARS1 DLAT ELN ELOVL1 ERCC1 EXOSC9 FBLN5 FTL FUCA1 FUS GBA2 GCH1 GDAP2 GEMIN5 GLE1 GLYCTK GNS GRM1 GTPBP2 H4C5 HARS1 IER3IP1 IMPDH2 JAM2 KCNMA1 LETM1 LYRM7 MMAA MRPS25 MSTN MT-TL1 MT-TL2 MT-TN MT-TS1 NDUFA4 NDUFS8 NFIX NR4A2 PAK3 PARK7 PDE8B PEX16 PEX19 PIGA PITRM1 PKDCC PLA2G6 PMPCA POU4F1 PPIL1 PPP1R15B PRR12 REEP1 REPS1 RNASEH1 RNF170 SCN1A SET SIGMAR1 SLC16A2 SLC1A4 SLC39A14 SLC52A3 SLC6A5 SLC9A7 SMC5 SMG9 SPAST SPG11 SPTBN1 SPTLC1 SURF1 TBCD TH TMEM106B TRMT10A TSPOAP1 TUBGCP2 VCP VRK1 WDR4 WDR62 HP_BRITTLE_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRITTLE_HAIR AARS1 ASL ATAD3A ATP6V0A2 ATP7A BCS1L BRAF CARS1 CBS CDH3 CDSN DSG4 EDA EDARADD ERCC2 ERCC3 GJA1 GJB6 GNPTAB GTF2E2 GTF2H5 GTPBP2 KRAS KREMEN1 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LIPH LPAR6 MAP2K1 MAP2K2 MPLKIP NECTIN1 NFIX OFD1 PORCN PQBP1 PRR12 RNF113A RPS23 SCUBE3 SEC23A SKIC2 SKIC3 SLC25A24 SPINK5 ST14 TARS1 TCHH TRNT1 ZMPSTE24 HP_BROAD_ALVEOLAR_RIDGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ALVEOLAR_RIDGES ARX ASXL1 ATP6V1B2 DHCR7 DIS3L2 FIG4 GJA1 GNS OFD1 RERE SETBP1 SH3PXD2B TBC1D24 VAC14 ZC4H2 HP_BROAD_BASED_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_BASED_GAIT ACTL6B ADGRG1 AP5Z1 ATCAY ATP10A BCL11A BCORL1 BICD2 CAD CAMTA1 CARS1 CCDC88C CDK10 CERT1 CHD3 CLTC COL9A2 COPB2 COQ2 CUL4B CWF19L1 DDX3X DEAF1 DLAT DNAJC12 DYRK1A EBF3 EGR2 EXT2 FLVCR1 FNIP1 GALC GBA1 GBA2 GNB2 GPT2 GTF2E2 GTPBP2 HACE1 HTT ITPR1 KCND3 KMT2A MAN1B1 MAP1B MECP2 MED12 MPV17 MPZ MTTP NAT8L NBEA NDUFAF2 NKX2-1 NRXN1 NSUN2 OCA2 PACS2 PEX5 PIEZO2 PIGL PLP1 PMP22 POLG PPM1D PPP1R15B PRDM13 PRX PURA RAB11B RAI1 RBM10 RFX7 RLIM RNASEH1 RNF113A RNU12 SATB2 SGCB SGCG SHANK3 SIM1 SLC6A8 SLC9A7 SMS SNRPN SNX14 SPTBN1 SPTBN2 SRCAP TBC1D23 TBP THRA TKFC TMEM106B TMEM222 TOP3A TPP1 TPR TRAPPC6B TRIM2 TRMT10A TRPV4 TWNK UBE3A UROC1 VCP VLDLR WASF1 WDR26 WDR81 XRCC4 YWHAG ZEB2 ZSWIM6 HP_BROAD_CHIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CHIN DYRK1A EBF3 KANSL1 LMX1B SLC12A2 STEEP1 STXBP1 TAF1 WAC HP_BROAD_CLAVICLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CLAVICLES ARSK ATP7A MMP14 MMP2 MYSM1 PTDSS1 PTH1R SH3PXD2B SOST TRIP11 WNT7A HP_BROAD_COLUMELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_COLUMELLA ALX4 ATP6V1E1 CKAP2L CWC27 EXOSC2 FLI1 GJA1 H4C5 HDAC4 PIK3C2A PPP1R21 RDH11 RPS6KA3 ZSWIM6 HP_BROAD_DISTAL_PHALANX_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_DISTAL_PHALANX_OF_FINGER AMMECR1 B3GALT6 B3GAT3 BGN CHST3 CREBBP DLK1 EP300 EXOSC2 FGFR2 FLNA FLNB GATAD2B GNAS GPC4 HOXD13 HS2ST1 IFT122 KIF22 MEG3 RNU4ATAC RTL1 SETD5 SMARCA2 WDR19 WLS HP_BROAD_DISTAL_PHALANX_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_DISTAL_PHALANX_OF_THE_TOES FGFR1 FGFR2 HOXD13 HS2ST1 MED25 HP_BROAD_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_EYEBROW BPTF CHD1 CREBBP DDB1 EIF5A EP300 FRA10AC1 HERC1 KMT2A MAF MAN1B1 MAPK1 NEPRO POLA1 POLR3A PYCR2 RERE SIN3A SLC35C1 SON SPATA5 SPTBN1 TRMT1 TTC5 ZEB2 HP_BROAD_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FACE ADNP AGA BRAT1 DDR2 DNM1 FLNA FLNB HDAC4 IDUA NFIA PDE4D PTCH1 RAI1 SNX14 TBL1XR1 TGFB3 UBE2A ZNF711 HP_BROAD_FEMORAL_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FEMORAL_NECK ACVR1 ARCN1 CANT1 CCN6 COG1 COL10A1 COMP DYM FZD2 MATN3 PTH1R RAB33B RAB3GAP2 SLC26A2 SLC39A13 TMEM53 UFSP2 HP_BROAD_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FINGER ACAN ADAMTS10 ADNP ALX4 AMMECR1 ARHGEF2 ARX B3GALT6 B3GAT3 BGN BICRA BMP2 BMPR1A BPTF CASK CBFB CDC42BPB CDKL5 CHST3 COL10A1 COL2A1 CREBBP CTNNB1 DACT1 DHX30 DLK1 DMXL2 DNM1L DVL1 DVL3 EED EP300 EXOSC2 EXTL3 EZH2 FBN1 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB G6PC3 GATA4 GATAD2B GDF5 GJA5 GJA8 GLI3 GNAO1 GNAS GPC3 GPC4 GRIN1 GRM7 H3-3A H3-3B HNRNPR HOXD13 HPGD HS2ST1 IFIH1 IFT122 INPPL1 KCNA1 KCNH1 KCTD1 KIF22 KNSTRN LIG4 LMBR1 MAN2C1 MAP3K7 MED12 MEG3 MEGF8 MEIS2 MSX2 NEPRO NEUROD2 NHS NOG NPR2 NSD1 NSUN2 NXN OFD1 OTUD6B PACS1 PCDHGC4 PIGP PIGQ PIK3CD PNKP POGZ PRKD1 PRKG2 PSMD12 PTEN PUF60 PYCR2 RAB23 RBM8A RLIM RNU4ATAC ROR2 RPS6KA3 RTL1 SALL1 SATB2 SCN1B SCN2A SETD5 SIAH1 SIK1 SLC25A22 SLC32A1 SMARCA2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBCK TBX5 TRIM8 TRPM3 TTC26 TWIST1 USP9X WDR19 WLS WNT5A XYLT1 ZNF141 ZNF668 HP_BROAD_FIRST_METATARSAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FIRST_METATARSAL ABCC9 CANT1 FGFR1 FGFR2 NEK1 TTC26 HP_BROAD_FOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOOT AIFM1 AIP ARL6 B3GLCT BBS1 BMPR1B CCDC28B CDC42BPB DYM DYNC1H1 EED EZH2 FGD1 FGFR1 GDF6 GPC3 GPC4 GPR101 LMBR1 MASP1 MSL3 NLRP3 NSD1 PDE4D PHF6 POGZ POR PTH1R RPL10 SLC26A2 SUZ12 TBL1XR1 TONSL XYLT1 HP_BROAD_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOREHEAD ABL1 ACTG2 ACTL6B ADAMTS3 AIP ALDH18A1 AMMECR1 ANTXR1 B3GAT3 B4GALT7 BAZ1B BCL7B BMP1 BMP2 BRAF BRPF1 BUD23 CAMTA1 CASK CBL CCBE1 CCDC22 CCDC8 CCNQ CDC42BPB CDH11 CDH2 CDKL5 CHST14 CHST3 CITED2 CKAP2L CLIP2 COLEC11 CUL7 CUX1 DEAF1 DLK1 DLL3 DNAJC30 DNMT3A DPH5 DPP9 EBF3 EED EIF4H ELN EMC10 EZH2 FAT4 FBLN5 FBN1 FGD1 FGFR2 FGFR3 FKBP6 FLCN FLII FLNA FLT4 FUT8 GATA4 GATA5 GATA6 GATAD2B GDF1 GJA5 GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 HBA1 HBA2 HECTD4 HES7 HOXB1 HRAS IDH1 IFIH1 IGBP1 IQSEC2 JAG1 JARID2 KANSL1 KCNH1 KCNJ2 KCNJ5 KDR KIF7 KRAS LFNG LIMK1 LRP2 LRP5 MADD MAN2B1 MAP2K1 MBD5 MED13L MEF2C MEG3 MESP2 METTL27 MKS1 MLXIPL NAA10 NALCN NARS1 NCF1 NF1 NFIA NFIX NIPA1 NIPA2 NKX2-5 NKX2-6 NOTCH2 NRAS NSD1 OBSL1 ODC1 PAK1 PCGF2 PEX3 PIGN PIGU PIK3CA POGZ POLE POLR3A PPM1D PPP2CA PRIM1 PRKACB PSPH PTDSS1 PTEN PTPN11 PYCR1 RAI1 RBM8A RECQL4 RFC2 RIPPLY2 RLIM RNF135 ROBO1 RPL10 RTL1 RUNX2 RYR3 SATB2 SCNM1 SETBP1 SH2B1 SH3PXD2B SHOC2 SIM1 SIN3A SKIC2 SKIC3 SLC25A24 SLC6A8 SMAD2 SPTBN1 STEEP1 STX1A SUZ12 TAB2 TAFAZZIN TBC1D7 TBCK TBL2 TBX1 TCEAL1 TCF12 TCTN2 TENT5A TET3 TFAP2B THOC2 THOC6 TMEM270 TRPM3 TTC5 TUBG1 TWIST1 UNC80 VPS37D WAC WASHC5 WBP11 YY1 ZBTB20 ZFPM2 ZIC1 ZIC2 HP_BROAD_HALLUX_PHALANX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_HALLUX_PHALANX ABCC9 BMP2 CREBBP CTCF DACT1 EFNB1 EP300 FGFR1 FGFR2 FLI1 GATA4 GLI3 GPC4 HOXD13 KCNJ8 NXN ROR2 SALL1 SALL4 SATB2 SUMF1 HP_BROAD_ISCHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ISCHIA ALG9 COL11A1 EXTL3 LIFR TMEM53 HP_BROAD_JAW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_JAW AIP ANO5 GPR101 LRP5 SH3BP2 SNIP1 HP_BROAD_LONG_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_LONG_BONES ABCC9 ACAN ADAMTS10 ADNP ALX4 AMMECR1 ARX B3GALT6 B3GAT3 BGN BICRA BMP2 BMPR1A BPTF CASK CBFB CDKL5 CHST3 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 CREBBP CTCF DACT1 DDR2 DHX30 DLK1 DMXL2 DNM1L DNMT3A DVL1 DVL3 EED EFNB1 EP300 EXOSC2 EXTL3 EZH2 FBN1 FGF9 FGFR1 FGFR2 FGFR3 FLI1 FLNA FLNB G6PC3 GATA4 GATAD2B GDF5 GJA1 GJA5 GJA8 GLI3 GNAO1 GNAS GPC3 GPC4 GPC6 GRIN1 GRM7 H3-3A H3-3B HHAT HNRNPR HOXD13 HPGD HS2ST1 HSPG2 IFIH1 IFT122 INPPL1 KCNA1 KCNH1 KCNJ8 KCTD1 KIF22 KNSTRN LIG4 LMBR1 LYSET MAN2C1 MAP3K7 MED12 MED25 MEG3 MEGF8 MEIS2 MSX2 NEPRO NEUROD2 NOG NPR2 NSD1 NSUN2 NXN OFD1 OTUD6B PACS1 PCDHGC4 PDE4D PIGP PIGQ PIK3CD PNKP POGZ PRKD1 PRKG2 PSMD12 PTEN PUF60 PYCR2 RAB23 RAB33B RBM8A RLIM RNU4ATAC ROR2 RTL1 SALL1 SALL4 SATB2 SCN1B SCN2A SETD5 SHOX SIAH1 SIK1 SLC25A22 SLC26A2 SLC32A1 SLC35D1 SMARCA2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TRIM8 TRPM3 TTC26 TWIST1 USP9X WDR19 WLS WNT5A XYLT1 ZNF141 ZNF668 HP_BROAD_METACARPALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METACARPALS ADAMTS10 BGN BMPR1B DDR2 DNMT3A EXTL3 FBN1 FGFR1 GDF5 GLB1 GNAS IFT140 IHH MMP14 MMP2 NPR2 PDE4D SLC26A2 TFE3 HP_BROAD_METATARSAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METATARSAL ABCC9 ADAMTS10 CANT1 FBN1 FGFR1 FGFR2 MMP2 NEK1 NPR2 PDE4D PTH1R RAB33B TTC26 HP_BROAD_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NAIL CLEC7A FHL1 HPGD IFT43 IHH IKBKG IL17F IL17RA IL17RC TRAF3IP2 HP_BROAD_NASAL_TIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NASAL_TIP ABCC9 ADAMTS18 ADNP AGL AIFM1 ALX3 ALX4 APC ARID1A ARID1B ARID2 ARSL ASXL2 ASXL3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 BCOR BPTF CASK CCNK CCNQ CDC42BPB CDH11 CDK10 COG6 CPLANE1 CTCF CTNNB1 DOCK7 DPF2 DPYD DYRK1A EBF3 EIF2S3 ELN EXOSC2 EXT2 EXTL3 FAM149B1 FBXO28 FLNB FOXP1 FREM1 GATAD2B GLB1 GPAA1 H4C3 H4C5 HDAC4 HDAC8 HNRNPK HRAS HS2ST1 HUWE1 IDUA IGF1R KAT6A KCNH1 KCNK9 KCNN3 KDM3B KDM6A KIAA0753 KIF11 KIF7 KMT2A KNSTRN KPTN LAS1L LRP2 LTBP1 MAP3K7 MCTP2 METTL5 MLXIPL MYMK NACC1 NRAS NSD1 NXN OFD1 PDE6D PGAP2 PGAP3 PHF21A PHF8 PHIP PIGO PIGQ PIGV PIK3CD POC1A POGZ PORCN PPP2CA PRKAR1A PRKAR1B PRMT7 PTPRF PUF60 PURA QRICH1 RAB3GAP1 RAB3GAP2 RARB RFX7 RHOBTB2 RNF135 RPS6KA3 RYR1 SATB2 SET SETBP1 SETD2 SH3PXD2B SIX2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SNRPN SOX11 SOX4 SRCAP SUPT16H TAF1 TBC1D24 TBL1XR1 TBX2 TCTN3 TFAP2A TFAP2B TLK2 TMEM216 TOE1 TOPORS TPR TWIST1 WAC WASHC4 XRCC4 YY1 ZBTB20 ZMYM2 ZSWIM6 HP_BROAD_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NECK B3GLCT BPTF CCDC22 COG1 DHX37 FHL1 HES7 HYLS1 IGBP1 MAPRE2 MED12 MEGF8 NF1 NUP88 PHGDH POLE PPP1CB PSMD12 RAPSN RPS26 RPS28 SLC2A1 SVIL TECPR2 TOGARAM1 TWIST1 UBE2A WNT7A ZMYM2 HP_BROAD_PALM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PALM ADAMTS10 AIFM1 ASXL1 B3GLCT BCOR COL2A1 DDR2 DHX30 DYM DYNC1H1 FBN1 FGD1 FGFR1 FHL1 GATA1 GNS GPC3 GPC4 IFT80 IHH KDM6B LBR PIGA PPP2R3C PRKAR1A PTH1R RAI1 RPS6KA3 SLC35C1 SPECC1L TBL1XR1 TONSL HP_BROAD_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANGES_OF_THE_HAND ACAN ADAMTS10 ADNP ALX4 AMMECR1 B3GALT6 B3GAT3 BGN BICRA BMP2 BMPR1A BPTF CBFB CDKL5 CHST3 COL10A1 COL2A1 CREBBP DACT1 DHX30 DLK1 DNM1L DVL1 DVL3 EED EP300 EXOSC2 EXTL3 EZH2 FBN1 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB G6PC3 GATA4 GATAD2B GDF5 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 H3-3A H3-3B HNRNPR HOXD13 HPGD HS2ST1 IFIH1 IFT122 INPPL1 KCNH1 KCTD1 KIF22 KNSTRN LIG4 LMBR1 MAN2C1 MAP3K7 MED12 MEG3 MEGF8 MEIS2 MSX2 NEPRO NOG NSD1 NSUN2 NXN OFD1 OTUD6B PACS1 PCDHGC4 PIK3CD POGZ PRKD1 PRKG2 PSMD12 PTEN PUF60 PYCR2 RAB23 RBM8A RLIM RNU4ATAC ROR2 RTL1 SALL1 SATB2 SETD5 SIAH1 SMARCA2 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TRPM3 TTC26 TWIST1 USP9X WDR19 WLS WNT5A XYLT1 ZNF141 ZNF668 HP_BROAD_PHALANX_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANX_OF_THE_TOES ABCC9 ARX BMP2 BMPR1A CASK CDKL5 CREBBP CTCF DACT1 DMXL2 EFNB1 EP300 FGFR1 FGFR2 FLI1 GATA4 GLI3 GNAO1 GPC4 GRIN1 GRM7 HOXD13 HS2ST1 KCNA1 KCNJ8 MED25 NEUROD2 NXN PIGP PIGQ PNKP PTEN ROR2 SALL1 SALL4 SATB2 SCN1B SCN2A SIK1 SLC25A22 SLC32A1 SUMF1 TRIM8 WDR19 HP_BROAD_PHILTRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHILTRUM ALX4 ANO1 AP2M1 ARID1A ARID1B ARID2 CDH11 CHD2 COLEC11 DPF2 ERMARD FGD1 H3-3A KCNK9 KMT2D MAF NEXMIF PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY RAC3 ROBO1 SCN1A SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNX14 SOX11 SOX4 SPTBN1 SYNGAP1 TBL1XR1 TMCO1 WDR35 ZNF462 HP_BROAD_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_RIBS ABCC9 ADAMTS10 AMER1 ARSB ARSK ATP7A COL11A1 COL11A2 COMP DYM FBN1 GLB1 GNPTAB GUSB IL1RN KCNJ8 NEK9 PTDSS1 PTH1R SERPINH1 SETBP1 SMAD4 SOST TFE3 TMEM53 WNT7A XYLT1 HP_BROAD_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_THUMB ACAN ADNP ALX4 B3GAT3 BICRA BMP2 BMPR1A BPTF CBFB CHST3 COL2A1 CREBBP DACT1 DHX30 DNM1L DVL1 DVL3 EED EP300 EXOSC2 EZH2 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB G6PC3 GATA4 GDF5 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 H3-3A H3-3B HNRNPR HOXD13 HPGD INPPL1 KCNH1 KCTD1 LIG4 LMBR1 MAN2C1 MAP3K7 MED12 MEGF8 MEIS2 MSX2 NOG NSD1 NSUN2 NXN OFD1 OTUD6B PACS1 PCDHGC4 POGZ PRKD1 PRKG2 PSMD12 PTEN PUF60 PYCR2 RAB23 RBM8A RLIM ROR2 SALL1 SATB2 SIAH1 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TRPM3 TTC26 TWIST1 USP9X WNT5A XYLT1 ZNF668 HP_BROAD_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_TOE ABCC9 ACAN ADNP ALDH6A1 ASPH BCOR BMP2 BMPR1B BPTF C2CD3 CCDC22 CHST11 COL2A1 CREBBP CSNK2A1 DLX5 DNM1L DVL1 EBP EFNB1 EP300 FGF9 FGFR1 FGFR2 FGFR3 FLNA GATA6 GDF5 GJA5 GJA8 GLI3 GPC3 GPC4 HNRNPR HOXD13 HPGD IFT122 IL11RA KCNH1 KIAA0753 KMT2B KMT2D LBR LRP4 MED12 MEIS2 NAA10 NBAS NEK1 NKX2-5 NKX2-6 NOG NPR2 NXN PDE4D PIGL PIGO PPP2R1A PRKG2 PUF60 PYCR2 RHOA ROR2 SATB2 SCNM1 SETBP1 SF3B4 SIAH1 SMARCA2 SMC1A SUMF1 TAF6 TBCK TBX1 TNNT3 TRPM3 TWIST1 UBE2A USP9X WDPCP WNT5A ZEB2 ZMIZ1 ZMYM2 HP_BRONCHIAL_WALL_THICKENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIAL_WALL_THICKENING ABCA3 AGR2 FNIP1 HYDIN PAK2 SFTPC TTC26 HP_BRONCHIECTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIECTASIS ABCA3 AGR2 ALDH18A1 ARHGEF1 ARL2BP ATM ATP11A B2M BACH2 BLM BLNK BTK BTNL2 C1QB CARD10 CARD11 CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CD81 CD8A CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP74 CFTR CLCA4 CR2 CTLA4 CXCR4 DCTN4 DIAPH1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNMT3B DOCK8 DPP9 DRC1 DSP EDNRA ELN EMILIN1 FAM13A FBLN5 FCGR2A FNIP1 FOXJ1 GAS2L2 GAS8 GCLC GSTM3 HFE HLA-DRB1 HMOX1 HYDIN ICOS IGHG2 IGHM IGKC IGLL1 IL21R IL6ST IRF2BP2 IRF8 IRF9 KCNN4 LAT LRBA LRRC56 LRRC8A MAGT1 MALT1 MCIDAS MIF MPEG1 MS4A1 MUC5B NBN NCKAP1L NDUFA6 NEK10 NFKB1 NFKB2 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PARN PGM3 PI4KA PIK3CD PIK3R1 POLA1 POLE PRKCD PTEN RAC2 RASGRP1 RIN2 RIPK1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SASH3 SCNN1A SCNN1B SCNN1G SERPINA1 SFTPA1 SFTPA2 SFTPC SLC11A1 SLC26A9 SLC29A3 SLC34A2 SLC39A7 SLC41A1 SLC6A14 SLC9A3 SLF2 SPAG1 SPEF2 SPI1 STAT1 STK36 STK4 STN1 STX1A STX3 SYK TAP1 TAP2 TAPBP TCF3 TERC TERT TET2 TGFB1 TNFRSF13B TNFRSF13C TNFRSF9 TNFSF12 TOM1 TP73 TPP2 TTC12 UNC119 WDR1 ZMYND10 ZNF341 HP_BRONCHITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHITIS ALMS1 ATM BLM CACNA1C CARMIL2 CCDC39 CCDC40 CCDC65 CD19 CD79A CD79B CD81 CFAP298 CFTR CR2 CRLF1 DNAAF1 DNAAF11 DNAAF4 DNAAF5 DNAH7 DNAI1 DNAJB13 DNMT3B DPP9 EGFR FCHO1 GAS8 GNPTAB GUSB HLA-DQA1 HLA-DQB1 HYDIN ICOS IGHG2 IGKC IL10RB IL17RA IL2RG IRF2BP2 MAGT1 MGP MS4A1 NBN NFKB1 NFKB2 NOS1 ODAD2 ODAD3 PRKCD RAC2 RFX7 RNF168 RPGR RSPH4A SCNN1A SCNN1B SCNN1G SERPINA1 SLC34A2 SMARCA2 SPAG1 SYK TAFAZZIN TAP1 TAP2 TAPBP TNFRSF13B TNFRSF13C TNFSF12 TRAF3IP1 USP26 ZBTB24 ZMYND10 HP_BRONCHOCONSTRICTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOCONSTRICTION ALOX5 CCL11 GALNS HLA-G HNMT IL13 MUC7 PLA2G7 PTGER2 SCGB3A2 TBX21 TNF HP_BRONCHOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOMALACIA EHMT1 ERF FGFR1 FGFR2 FLNB GMNN HRAS IDS IL6ST KAT6A KRT14 KRT5 LTBP4 MYH11 MYRF ORC4 ORC6 POR RAC1 SCUBE3 SLC26A2 SOX9 ZNF699 HP_BRONCHOSPASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOSPASM AARS1 ACAN ATRX CARS1 DAXX ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A SDHD TARS1 TSPYL1 HP_BRUISING_SUSCEPTIBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUISING_SUSCEPTIBILITY ABCC6 ACTA2 ADAMTS2 AEBP1 AIP ANKRD26 ARMC5 ATP7A ATP7B ATRX B3GALT6 BCOR BGN BLOC1S3 BLOC1S5 BRAF C1R C1S CASP10 CDH23 CHST14 CLCN7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CREB3L1 DSE DTNBP1 ELN EMILIN1 ENPP1 ETV6 F10 F13A1 F13B F2 F5 F7 F8 FANCA FANCC FANCD2 FANCE FAS FASLG FBN1 FCGR2C FGA FGB FGG FIP1L1 FKBP10 FKBP14 FLNA FOXE3 FUCA1 GATA1 GATA2 GBA1 GFI1B GGCX GNAS GP1BA GP1BB GP6 GP9 GSN HBA1 HBA2 HEY2 HPS1 HPS3 HPS4 HPS5 HPS6 IPO8 IRF2BP2 ITGA2B ITGB3 JAK2 KRAS LMAN1 LOX LYST MAP2K1 MAPK1 MAT2A MCFD2 MFAP5 MPL MTAP MYH11 MYH9 MYLK NABP1 NBEAL2 NFIX NPM1 NR3C1 NTRK1 NUMA1 P2RY12 PDE11A PLAU PLEC PLOD1 PLOD3 PML PRDM5 PRF1 PRKACA PRKAR1A PRKCD PRKG1 PTPN11 PYCR1 RARA RASGRP1 RASGRP2 RIN2 RUNX1 SCARB2 SERPINF2 SIK3 SLC2A10 SLC37A4 SLC39A13 SLC51A SLFN14 SMAD2 SMAD3 SMAD4 SNX10 SOS1 SPRED2 STAT3 STAT5B STIM1 STX11 STXBP2 TBL1XR1 TBXA2R TCIRG1 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TNFRSF1A TNFSF11 TNXB TP53 UNC13D USP48 USP8 VWF WAS WIPF1 ZBTB16 ZNF469 HP_BRUSHFIELD_SPOTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUSHFIELD_SPOTS GATA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PRR12 HP_BRUXISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUXISM ADNP AFF3 ANK3 ATG7 CACNA1B CACNA2D1 CAMK2B CDKL5 CERT1 DHX30 EEF1A2 FOXG1 GABBR2 GNB2 GRIN1 H4C5 HNRNPK HTT KIF15 MBD5 MECP2 NEXMIF NTNG2 PDE2A PGAP3 PUS7 RHOBTB2 SHANK3 SPTBN1 TRAPPC9 VPS13A ZBTB18 ZEB2 HP_BUDD_CHIARI_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUDD_CHIARI_SYNDROME CD55 F5 JAK2 MPL PIGA TERC TERT TET2 TINF2 HP_BULBAR_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_PALSY ABCD1 ACTA1 AGRN AR ARSA ATXN1 BICD2 CHAT CHCHD10 CHRNA1 CHRNE COL13A1 DES DNAJB6 DOK7 FUS GIPC1 GSN HK1 LMOD3 MATR3 MTRFR MYO9A NEB PET100 PLAA SLC18A3 SLC25A1 SLC52A2 SLC52A3 SLC5A7 SNAP25 SQSTM1 SYT2 TARDBP TBK1 TIA1 TK2 TPM3 TRPM7 VAMP1 VCP HP_BULBAR_SIGNS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_SIGNS ACTA1 ALS2 ARSA ATP1A2 ATP1A3 ATXN1 CACNA1A CHCHD10 FIG4 FUS GBA1 GFAP GSN KBTBD13 KLHL41 MATR3 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MYPN NEB NEK1 PLA2G6 PLAA PSAP REEP1 RYR1 SIGMAR1 SLC1A3 SLC39A14 SPG11 SPTLC1 TFG TPM2 TPM3 VAPB HP_BULBOUS_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBOUS_NOSE ABCA5 ACTL6B AFF3 AGO1 ALDH1A2 ALDH6A1 ALG3 AP4B1 AP4E1 AP4M1 AP4S1 ARVCF ASXL3 ATN1 ATP6V1A ATP6V1B2 BICRA BRAF C2CD3 CAMTA1 CCDC47 CCDC8 CCNQ CDC42 CDH11 CDK13 CDK19 CEP55 CEP57 CIT CLCN3 CLIC2 CLP1 CLPB COL11A2 COL18A1 COL1A2 COMT CPLX1 CPT2 CSF1R CUL4B CUL7 CUX1 DDX3X DGCR2 DGCR6 DGCR8 DLX4 DOCK6 DOCK7 DYNC1I2 DYRK1A EBP ECE1 ECEL1 EDEM3 EFEMP2 EIF5A ESS2 EXT1 EXT2 EXTL3 FBN1 FBXL3 FBXO31 FMR1 FOXG1 FRA10AC1 FREM1 GJA5 GJA8 GP1BB H4C5 HECW2 HIRA HK1 HUWE1 INTS1 JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6B KATNB1 KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 KDM4B KDM5B KIF15 KIFBP KMT2A KMT2B KMT2D LMX1B LTBP3 MAN1B1 MAP3K7 MBD5 MED12 MED12L MED13L MESD MIPEP MMP2 MPDZ MRAS MTX2 MYO18B NANS NHEJ1 OBSL1 ODC1 PACS1 PGAP2 PGAP3 PGM2L1 PIGL PIGO PIGV PIGW PIGY POR POU4F1 PQBP1 PYCR1 PYCR2 QRICH1 RAD21 RBMX RERE RNU4ATAC RREB1 RUSC2 SATB2 SC5D SCYL2 SEC24C SETD5 SHANK3 SIM1 SLC25A46 SLC35C1 SLX4 SMARCA2 SMARCAL1 SMARCD1 SMC3 SMC5 SMG8 SMPD4 SMS SNIP1 SNX14 SOX5 SPEN SPOP SPRTN SPTBN1 SRCAP SRD5A3 STAG2 STXBP1 TAF1 TBC1D23 TBC1D24 TBCK TBX1 TBX4 TCF20 TMEM231 TONSL TRIO TRPM3 TRPS1 TRRAP TUBGCP2 TWIST2 UFD1 UNC80 USP9X WAC WDR62 YY1 ZMYM2 ZNF292 HP_BULIMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULIMIA MAGEL2 NDN NEXMIF OCA2 PDSS1 SNRPN HP_BULL_S_EYE_MACULOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULL_S_EYE_MACULOPATHY ABCA4 CLN3 CRLS1 HARS1 IMPDH1 MAK MFSD8 PROM1 RAX2 RP2 TLCD3B TMCO1 VPS13B HP_BUNDLE_BRANCH_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUNDLE_BRANCH_BLOCK ABCC9 ACTC1 AKAP9 ATP6V1A ATP6V1E1 BANF1 BRAF CACNA1C CACNA2D1 CACNB2 CDH2 CITED2 CNBP CTNNA3 DMPK DSG2 DYSF EXOSC5 FHL1 FLNC GATA4 GATA6 GLA GNAI2 GPC3 GPC4 GPD1L GYG1 HCN4 JUP KCND3 KCNE3 KCNE5 KCNJ8 KCNK3 LDB3 LEMD2 LMNA LMOD2 MT-CYB MYBPC3 MYH6 MYH7 MYL2 MYOZ2 NKX2-5 NPPA PIGU PKP2 PLEC POLG2 POMT2 PPP1CB PRKAG2 PSEN1 PSEN2 PTPN11 RAF1 RANGRF RNASEH1 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TBX20 TLL1 TNNC1 TNNI3K TNNT2 TRPM4 HP_BUPHTHALMOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUPHTHALMOS ADAMTSL1 AKT1 ATOH7 CYP1B1 DAG1 FGFR2 FKRP FKTN FUT8 FZD4 GLIS3 GNAQ LARGE1 LTBP2 MAB21L1 NCAPG2 NDP OCRL POMGNT1 POMT1 POMT2 PTEN PXDN SBF2 SH3PXD2B SIX6 TWIST1 HP_BURKITT_LYMPHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BURKITT_LYMPHOMA CASP10 FAS FASLG MYC NFATC2 PRKCD RASGRP1 RHOH SH2D1A XIAP HP_BUTTERFLY_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUTTERFLY_VERTEBRAE ALG12 ARSL COG1 CSGALNACT1 FOXF1 HAAO IPO8 KDM6A KMT2D LAMA5 MBTPS2 NKX3-2 OTUD5 RIPPLY2 SC5D SIX6 SOX2 SOX5 STAG2 TBX6 WBP11 HP_B_CELL_LYMPHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_CELL_LYMPHOMA ADA ATM BCL10 BIRC3 CASP10 CCND1 FAS FASLG FCHO1 FOXP1 IKZF3 ITK MAGT1 MALT1 NBN NFATC2 PIK3R1 PRKCD PTPRC RASGRP1 SYK HP_B_LYMPHOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_LYMPHOCYTOPENIA ADA ALG12 ARHGEF1 ATP11A B2M BTK CD79A CD79B DCLRE1B DCLRE1C DOCK8 FCHO1 FNIP1 GATA2 GFI1 ICOS IGHM IGLL1 IKBKG IKZF1 IKZF3 IL2RA IVNS1ABP JAK3 KNSTRN LRBA MCM10 MYD88 MYSM1 NBN NFKB2 NHEJ1 PIK3CD PIK3R1 POMP PRIM1 PRKDC PTEN PTPRC RAC2 RAG1 RAG2 REL RIPK1 SASH3 SLC39A7 SPI1 STAT1 SYK TCF3 TLR8 TNFRSF9 TOM1 TRNT1 UNC119 WDR1 ZBTB24 HP_C1_C2_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_SUBLUXATION ARSL COL2A1 DDR2 IDUA MADD MMP2 HP_C1_C2_VERTEBRAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_VERTEBRAL_ABNORMALITY ARSL COL2A1 DDR2 FN1 IDUA MADD MMP2 SKI HP_CACHEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CACHEXIA ACADM AKT1 ALS2 ATR ATRIP BMPR1A CALR CENPE CENPJ CEP152 CFTR CNTNAP1 CUL4B DNA2 ERCC2 ERCC3 ERCC4 ERCC5 EWSR1 FOXP3 FUS GALC GBA1 GFAP HSPG2 IRF4 JAK2 LIG3 LIPA LMNA LPIN2 MAFB MECP2 MPL NALCN NBN NDP NUP85 PCNT PLK4 POLG PSAP PTEN RBBP8 RRM2B SCNN1A SCNN1B SCNN1G SIGMAR1 SLC6A8 SLC9A6 SPG11 SPTLC1 STUB1 SUCLA2 TET2 TGFB1 TRAIP TRIM37 TRPV4 TYMP UNC80 WT1 HP_CAESARIAN_SECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAESARIAN_SECTION AGTPBP1 ARSB ASXL3 CACNA1D CYP11B1 CYP11B2 MCM4 MTM1 OPA1 POLR3A POR PTCD3 SATB1 TAF1 TAOK1 HP_CAFE_AU_LAIT_SPOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAFE_AU_LAIT_SPOT ABCB6 ABCC9 AKT1 ANAPC1 APC ARL6IP6 ATM BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CBL CDKN1C CEP57 CIB1 CLCN7 COL25A1 COPB1 CREBBP CWC27 DHX30 EP300 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GNA11 GNB2 H4C5 HEPACAM HMGA2 IFNG IGF1 IGF2 IL7 KANSL1 KDM5C KDM6A KDM6B KITLG KLLN KMT2D KRAS LZTR1 MAD2L2 MAN1B1 MAP2K1 MAP2K2 MAPK1 MAX MED12 MEN1 MLH1 MSH2 MSH6 MTOR NBN NF1 NF2 NRAS PALB2 PCNT PDE11A PHIP PIK3CA PLAG1 PLXND1 PMS2 POLE PPP1CB PRKAR1A PTEN PTPN11 RAD51 RAD51C RAF1 RBBP8 RERE RET REV3L RFWD3 RFX7 SDHB SDHC SDHD SEC23B SET SETBP1 SH3PXD2B SHOC2 SKIC2 SKIC3 SLC9A1 SLF2 SLX4 SMARCA2 SOX10 SPRED1 STEAP3 TMC6 TMC8 TMEM127 TOP3A TP63 TRIP13 TSC1 TSC2 TWIST2 UBE2T UBR1 USF3 VHL WASF1 WBP11 XRCC2 ZFHX4 HP_CALCIFICATION_OF_CARTILAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_CARTILAGE ABCC6 ANKH DDR2 ENPP1 HGD LBR MGP PEX2 PEX5 SLC26A2 TNFRSF11B ZBTB20 HP_CALCIFICATION_OF_FALX_CEREBRI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_FALX_CEREBRI ABCC6 COL11A1 DDR2 PTCH1 SUFU ZSWIM6 HP_CALCIFICATION_OF_THE_AORTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_THE_AORTA ABCC6 ABCG5 ABCG8 ADAR APOB ENPP1 GATA5 GBA1 IFIH1 LDLR LDLRAP1 LSM11 NKX2-5 NOTCH1 PCSK9 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC34A2 SMAD6 TREX1 HP_CALCIFIC_STIPPLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFIC_STIPPLING EBP GNPAT HSD17B4 PEX2 PEX5 HP_CALCINOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCINOSIS AGXT ANAPC1 CASR GALNT3 GEMIN4 GNAS LBR LMNA RECQL4 SAMD9 STX16 ZMPSTE24 HP_CALCIUM_NEPHROLITHIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_NEPHROLITHIASIS ADCY10 AGXT GRHPR HOGA1 OPLAH SLC26A1 SLC34A2 SLC34A3 SLC36A2 TBC1D7 HP_CALCIUM_OXALATE_NEPHROLITHIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_OXALATE_NEPHROLITHIASIS ADCY10 AGXT GRHPR HOGA1 OPLAH SLC26A1 SLC36A2 TBC1D7 HP_CALF_MUSCLE_PSEUDOHYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY ANO5 CAV3 CRPPA DAG1 DMD FKRP GMPPB MYH7 NEB POMGNT1 POMK POMT1 POMT2 PPARG SGCA SGCB SGCG TRIM32 HP_CALVARIAL_HYPEROSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_HYPEROSTOSIS AKT1 COL1A1 COX4I2 HNRNPA1 HNRNPA2B1 IDUA PRKAR1A PTEN SLC39A14 VCP HP_CALVARIAL_OSTEOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_OSTEOSCLEROSIS ANKH AP1S2 DVL1 FAM111A KL LRP5 TBCE TCIRG1 HP_CALVARIAL_SKULL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_SKULL_DEFECT ALX4 ARHGAP31 BMS1 COL18A1 CPLX1 CTBP1 DLL4 DOCK6 EOGT FRAS1 FREM2 GRIP1 HSPG2 ITGB4 KCTD1 LBR LETM1 NELFA NOTCH1 NSD2 PAK2 PIGG PLEC RBPJ UBA2 UBR1 WNT7A HP_CAMPTODACTYLY_OF_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAMPTODACTYLY_OF_TOE BCOR CHRNG DSP FGFR3 FHL1 FLNA GLI3 IPO8 JUP MMP2 MYL11 PHF6 PIEZO2 PPP2R5D PRG4 SCARF2 HP_CAPILLARY_FRAGILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_FRAGILITY ATRX BRAF CDH23 NR3C1 TP53 USP48 USP8 HP_CAPILLARY_HEMANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_HEMANGIOMA AKT1 ANTXR1 ARL6IP6 ATP6V1B2 CCND1 CD96 CREBBP DHCR7 DIS3L2 DVL1 DVL3 EIF2AK4 EP300 EPHB4 ESCO2 EXTL3 FGFR1 FLT4 FZD2 GLI3 GNA11 GNAQ HS2ST1 KDR KRAS MGAT2 POR PTEN PUF60 RASA1 RBM8A RECQL4 SEC23A TBC1D24 TRPM3 VHL WNT5A HP_CAPILLARY_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_MALFORMATION ASXL1 ASXL2 BAZ1B BCL7B BUD23 CDK10 CDK13 CDKN1C CLIP2 CYP1B1 DIS3L2 DNAJC30 DVL1 DVL3 EDEM3 EIF2AK4 EIF4H ELN EPHB4 FGFR1 FKBP6 FRA10AC1 FZD2 GNAQ GTF2I GTF2IRD1 GTF2IRD2 H19 IGF2 KCNQ1 KCNQ1OT1 KRAS LBR LIMK1 LTBP2 MED25 METTL27 MLXIPL MTOR MYOC NAA10 NCF1 NEK9 NF1 NOTCH1 NXN PIK3CA PLP1 PUF60 RASA1 RBM8A RFC2 ROR2 SETBP1 SLC26A2 SMC3 STAMBP STX1A TBL2 TEK TGFB3 TMEM270 TRIM37 VPS37D WNT5A HP_CARCINOID_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOID_TUMOR APC ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX IFNG LMNA MEN1 SDHD TSC1 TSC2 HP_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOMA APC CDKN1B DKC1 NLRP1 POLE PTEN RSPO1 HP_CARDIAC_ARREST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_ARREST ABCA12 ABCA3 ABCC6 ABCC9 ABCG5 ABCG8 ACAD9 ACADVL ACTC1 ACTN2 AGK AKAP9 AKT1 ALG10B ALPK3 ANK2 APOB BAZ1B BCL7B BUD23 C1QBP CACNA1C CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CLCF1 CLIP2 CPT1A CRLF1 CRLS1 CSRP3 DES DNAJC19 DNAJC30 DPP6 DSC2 DSG2 DSP DTNA EIF4H ELN EMD ENPP1 EYA4 FHL1 FHOD3 FKBP6 FLNC GBA1 GNAI2 GNB2 GPD1L GTF2I GTF2IRD1 GTF2IRD2 HCN4 HLA-B HLA-DRB1 HMGCL IKZF1 IPO8 JUP KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KLHL24 LDB3 LDLR LDLRAP1 LEMD2 LIMK1 LMNA LRP6 METTL27 MLXIPL MRPL12 MYBPC3 MYH7 MYL2 MYL3 MYOZ2 NCF1 NDUFA2 NDUFB11 NOS1AP NUP155 P4HA2 PCSK9 PGM1 PKP2 PPA2 PRKAG2 PTEN PTPN22 RAB3GAP2 RANGRF RBM20 RFC2 RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SCO2 SEMA3A SFTPB SFTPC SGCD SLC19A2 SLC25A20 SLC2A10 SLC4A3 SLMAP SNTA1 STX1A SYNE1 SYNE2 TANGO2 TBL2 TBX5 TECRL TGFB3 TGFBR1 TGFBR2 TMEM270 TMEM43 TNNC1 TNNI3 TNNI3K TNNT2 TOR1A TPM1 TRDN TRPM4 TSPYL1 TTC26 TTN VPS37D WAS WIPF1 HP_CARDIAC_CONDUCTION_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_CONDUCTION_ABNORMALITY ABCC9 ACADVL ACTA1 ACTC1 ACTN2 AGXT AKAP9 ATP1A2 ATP1A3 ATP6V1A ATP6V1E1 BANF1 BRAF BTNL2 BVES CACNA1A CACNA1C CACNA1D CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CDC45 CDH2 CITED2 CNBP CPT2 CREBBP CTNNA3 DEF6 DES DMPK DOHH DSG2 DTNA DYSF EMD EP300 EXOSC5 FHL1 FLNC GABRA3 GATA4 GATA6 GJA5 GLA GNAI2 GNB2 GNB5 GPC3 GPC4 GPD1L GPX4 GRIN1 GYG1 HCN4 HLA-DRB1 JUP KCND3 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNK3 KCNQ1 LAMP2 LARS2 LDB3 LEMD2 LMNA LMOD2 LRP1 MMP14 MMP2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYBPC3 MYH6 MYH7 MYL2 MYL4 MYOZ2 MYPN NKX2-5 NPPA PEX7 PHYH PIGU PKP2 PLEC POLG2 POMT2 PPP1CB PRKAG2 PRKG2 PSEN1 PSEN2 PTPN11 RAF1 RANGRF RMRP RNASEH1 RRM2B RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SDHA SDHAF1 SDHB SDHD SELENON SEMA3A SGO1 SLC1A3 SLC25A20 SLC4A3 SLMAP SYNE1 SYNE2 TBX20 TBX5 TLL1 TMEM43 TNNC1 TNNI3K TNNT2 TRDN TRPM4 TTN TTR VEZF1 HP_CARDIAC_DIVERTICULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_DIVERTICULUM BMPR1A EPCAM FAN1 KRAS MLH1 MLH3 MSH2 MSH6 PIK3CA PMS1 PMS2 RPS20 SEMA4A TGFBR2 HP_CARDIAC_SHUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_SHUNT ACTC1 ACVRL1 CITED2 ENG FOXF1 GATA4 GATA6 MYH11 MYH6 NKX2-5 TBX20 THOC6 TLL1 TTC26 HP_CARDIAC_VALVE_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_VALVE_CALCIFICATION FBN1 GATA5 GBA1 HGD IFIH1 LMNA MTX2 NKX2-5 NOTCH1 RIGI SLC34A2 SMAD6 ZMPSTE24 HP_CARDIOGENIC_SHOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOGENIC_SHOCK ABCC6 ATRX DAXX LMOD2 MYL2 NAA10 RPL3L SDHA HP_CARDIOMEGALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMEGALY AARS2 ABCC6 ABCC9 ACADM ACADVL ACTA2 ACTN2 ADAR ALPK3 ASXL1 B3GAT3 BAZ1B BCL7B BMP2 BMP6 BUD23 C1QBP CACNA1C CDKN1C CHST3 CLIC2 CLIP2 COX5A COX6B1 CPT1A CPT2 DES DNAJC30 DOHH DSP DYSF EIF4H ELN ENPP1 FBN1 FHL1 FIG4 FKBP6 FOCAD FOXE3 FUCA1 GAA GATB GBA1 GNPTAB GTF2I GTF2IRD1 GTF2IRD2 HBB HEXB HEY2 HFE HSD17B10 HYMAI IFIH1 IGF2 JUP KCNJ8 KCNQ1 KCNQ1OT1 LAMP2 LIMK1 LOX LSM11 MAT2A METTL27 MFAP5 MLXIPL MOGS MT-CYB MTO1 MTTP MYBPC3 MYH11 MYLK NAA10 NAGA NAGLU NCF1 NDUFB7 NDUFC2 NEK9 NEU1 NHLRC2 NKX2-6 NONO PAM16 PEX7 PGM1 PHYH PIGS PLAGL1 PLXND1 PRKAG2 PRKAR1A PRKG1 PSMB8 RFC2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHA SLC17A5 SLC22A5 SLC29A3 SLC31A1 SMAD2 SMAD3 SMAD4 STAT2 STX1A TAPT1 TBL2 TET3 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMEM270 TREX1 TRIM37 TTR VAC14 VPS37D WDR37 ZIC3 HP_CARDIOMYOCYTE_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMYOCYTE_HYPERTROPHY ACTC1 ACTN2 ALPK3 DOLK DSP GYG1 KLHL24 TNNI3 VCL HP_CARDIORESPIRATORY_ARREST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIORESPIRATORY_ARREST ADGRG6 COL2A1 DDC GET3 GPX4 KIT LAMP2 MYL2 SLC25A20 SLC2A10 TSPYL1 TXNDC15 HP_CARDIOVASCULAR_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOVASCULAR_CALCIFICATION ABCC6 ABCG5 ABCG8 ADAR APOB B2M ENPP1 ERCC6 ERCC8 FBN1 GALNT3 GATA5 GBA1 HGD IFIH1 LDLR LDLRAP1 LMNA LSM11 MTX2 NKX2-5 NOTCH1 NT5E PCSK9 PDGFB PDGFRB RIGI RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC20A2 SLC34A2 SMAD6 STAT1 TOM1 TREX1 ZMPSTE24 HP_CARIOUS_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARIOUS_TEETH AARS1 ABL1 ACP4 ADGRV1 ADNP AGA AKT1 ALDOB ALPL ANAPC1 AP3B1 APC ARSB ARVCF ATP6V0A2 ATP6V1A ATP6V1E1 ATR B3GALT6 BAZ1B BCL7B BUD23 CARS1 CAV1 CCN2 CCR6 CDH1 CDH11 CDH3 CLCN7 CLIP2 CNNM4 COG6 COL17A1 COL2A1 COL3A1 COL7A1 COMT COX4I2 CREBBP CRLF1 CTC1 CTNND1 CTSK DKC1 DNAJC21 DNAJC30 DPH5 EFL1 EIF4H ELN ENPP1 EP300 ERCC2 ERCC3 ERCC6 ERCC8 FAM111A FERMT1 FGF10 FGF3 FGFR2 FGFR3 FKBP6 GALNS GJA1 GLB1 GP1BB GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HERC2 HIRA HLA-DRB1 IFIH1 IFT52 IRF5 JMJD1C KLK4 KMT2D KRT14 LAMA3 LAMB3 LAMC2 LIFR LIMK1 MAGEL2 MAPRE2 MBTPS2 MEGF8 METTL27 MKRN3 MLXIPL MMP1 MMP13 MPLKIP MYO7A NCF1 NECTIN1 NHP2 NOP10 NPAP1 NPM1 OCRL OFD1 PARN PAX1 PDZD7 PEPD PERP PGM2L1 PKP1 PLEC PPP1CB PTCH1 PTCH2 PTEN PWAR1 PWRN1 RBM28 RECQL4 RFC2 RNF113A RREB1 RTEL1 RUNX2 SATB1 SBDS SCNM1 SEC23A SEC24C SFRP4 SGMS2 SHOC2 SLC10A7 SLC24A4 SLC37A4 SLF2 SNORD115-1 SNORD116-1 SNRPB SNRPN SOX9 SRCAP SRP54 STX1A SUFU TARS1 TBCE TBL2 TBX1 TCIRG1 TERC TERT TGFB1 THOC6 TINF2 TMEM270 TNFSF11 TP63 TRPS1 TRPV3 TYMS UBE3B UFD1 USB1 USH2A VDR VPS37D WHRN WRAP53 ZMYM2 HP_CAROTID_ARTERY_DILATATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_DILATATION ACTA2 DCDC2 ELN FBN1 FOXE3 HEY2 IPO8 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD2 SMAD3 SMAD4 STAT1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMEM67 TOM1 HP_CAROTID_ARTERY_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_STENOSIS ABCA1 ABCG8 AEBP1 HTRA1 MYH11 YY1AP1 HP_CARPAL_BONE_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_BONE_HYPOPLASIA ALDH18A1 COMP DYM EIF2AK3 EXOC6B GNPTAB KIF22 NANS RBM8A RSPRY1 SALL4 TRPV4 HP_CARPAL_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_SYNOSTOSIS APC ATP7A B3GALT6 BHLHA9 BMPR1B BPNT2 CHSY1 COL27A1 DYNC2LI1 ESCO2 EVC EVC2 FBLN1 FGFR2 FGFR3 FLNA FLNB GDF5 GLI1 HOXA13 HOXD13 LMBR1 LRP4 MACROH2A1 MAP3K7 MYH3 NOG NXN PAX3 PITX1 POR PRKACA PRKACB RBM8A RECQL4 ROR2 SALL4 SHH SMOC1 HP_CATAPLEXY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CATAPLEXY CTSH DNMT1 HCRT HLA-DQB1 HLA-DRB1 MOG NPC1 NPC2 P2RY11 TBCD TNFSF4 ZNF365 HP_CAUDAL_APPENDAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDAL_APPENDAGE COLEC10 COLEC11 DCHS1 FAT4 MASP1 TRPV4 HP_CAUDATE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDATE_ATROPHY ASNS BSCL2 FOXP2 FTL HTT JPH3 NDUFAF5 NEK1 OPHN1 SLC2A3 TIMM8A TREM2 TYROBP VPS13A HP_CAVERNOUS_HEMANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVERNOUS_HEMANGIOMA ACVRL1 AKT1 ATP2B1 BIN1 BRAF CCM2 DNM2 ENG ESCO2 GDF2 GNPTAB HOXD13 HRAS IDH1 KLLN KRAS KRIT1 MAP2K1 MAP2K2 MTMR14 MYF6 NOTCH1 NRAS PDCD10 PIK3CA PTEN RYR1 SDHB SDHC SDHD SEC23B SMAD4 TEK THSD1 USF3 HP_CAVUM_SEPTUM_PELLUCIDUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVUM_SEPTUM_PELLUCIDUM ALG12 APC2 BANF1 CPLX1 CTBP1 FGFRL1 LETM1 LRRC32 MAPK1 MAPKAPK5 MED25 MITF MUSK NKX2-1 NSD1 NSD2 PACS1 PAFAH1B1 PCGF2 PIK3CA PPP1R21 PPP2R5D RAB5IF RBM8A RNF125 SETD2 SMG8 STT3A TUBB2B ZSWIM6 HP_CELIAC_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELIAC_DISEASE BICRA ELN GPR35 HLA-DQA1 HLA-DQB1 IGHG2 IGKC IL12A IL12RB1 IPO8 IRF5 IVNS1ABP MED12 MLXIPL MMEL1 MST1 ODC1 POU2AF1 SATB2 SEMA4D SOCS1 SPIB SRCAP STAT3 STAT5B TBC1D7 TCF4 TNFSF15 TNPO3 WAC HP_CELLULAR_IMMUNODEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULAR_IMMUNODEFICIENCY ACP5 AK2 AKT1 ATM CDCA7 CREBBP CTC1 DKC1 DNMT3B EP300 EPG5 FOXN1 FRAS1 HELLS KLLN NHP2 NOP10 NPM1 PARN PIK3CA PTEN RMRP RTEL1 SDHB SDHC SDHD SEC23B SMARCAL1 TBCE TERC TERT TINF2 TYMS USB1 USF3 WRAP53 ZBTB24 HP_CELLULITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULITIS AEBP1 AGGF1 ANGPT2 ARPC1B BLNK BTK CD79A CD79B CLPB COL1A1 CXCR4 CYBA CYBB ELANE EPHB4 FLT4 FOXC2 GATA2 GFI1 GJC2 IGHM IGLL1 IL2RA IL6R IL6ST KIF11 LMNA LRRC8A MPEG1 NCF1 NCF2 PHEX PIEZO1 PIK3CD PIK3R1 PLCG2 PSTPIP1 RAC2 SHANK3 SLC35A1 SLC35C1 SLC39A7 SPI1 SRP19 SRP54 STAT3 TCF3 TCIRG1 TNFRSF1A VEGFC HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS ACTA1 ADGRG6 ALG2 ANXA11 BIN1 BVES CACNA1S CAPN3 CASQ1 CAV3 CAVIN1 CCDC78 DNM2 DPM3 FXR1 GGPS1 HNRNPA1 HNRNPA2B1 JAG1 MAP3K20 MATR3 MB MICU1 MLIP MTM1 MTMR14 MYF6 MYH7 OBSCN ORAI1 PLIN4 POLG POMT1 PYROXD1 RYR1 RYR3 SCN4A SELENON SIL1 SMN1 SMPX SPEG STIM1 SYNE1 SYNE2 TNPO3 TOR1AIP1 TPM3 TRIM32 TRIP4 TTN TWNK UNC45B HP_CENTRAL_ADRENAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_ADRENAL_INSUFFICIENCY AAAS AIP BRAF CDH23 CTNNB1 GLI3 IARS2 MAGEL2 MEN1 NDN NFKB2 OCA2 PCSK1 POMC RBM28 SNRPN TBCK TBX19 HP_CENTRAL_APNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_APNEA AHI1 ARSL ATP1A3 BICD2 CDON CEP290 CISD2 DISP1 DLL1 FGF8 FGFR1 FGFR3 FOXH1 GAS1 GLI2 INPP5E MAGEL2 NDN NODAL OCA2 PLCH1 PSAP PTCH1 RPGRIP1L SHH SIX3 SLC2A1 SMC1A SNRPN STAG2 STIL SYT1 TBR1 TDGF1 TECPR2 TGIF1 TMEM216 TSEN54 TTC19 WFS1 ZIC2 HP_CENTRAL_DIABETES_INSIPIDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_DIABETES_INSIPIDUS AVP BRAF CDON CRLS1 CTNNB1 DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL POU3F4 PTCH1 SHH SIX3 STIL TDGF1 TGIF1 TP63 WFS1 ZIC2 HP_CENTRAL_HETEROCHROMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HETEROCHROMIA AKT1 CHN1 MAFB PNPLA6 PTEN SALL4 HP_CENTRAL_HYPOTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOTHYROIDISM AIP AKT1 ARNT2 BAP1 BRAF CDH23 CDON CPE CTNNB1 DISP1 DLL1 DMXL2 EIF2AK3 FGF8 FGFR1 FOXA2 FOXH1 GAS1 GLI2 GLI3 HESX1 HID1 INSR IRS4 KATNIP LEP LEPR LHX3 LHX4 MAGEL2 MEN1 NDN NEXMIF NF2 NIN NODAL OCA2 OTX2 PCSK1 PDGFB PIK3CA PLCH1 POMC POU1F1 POU3F4 PROP1 PTCH1 RBM28 ROBO1 RPL10 SETBP1 SHH SIM1 SIX3 SMARCB1 SMARCE1 SMC1A SMO SNRPN SOX3 STAG2 STIL SUFU TBL1X TDGF1 TERT TGIF1 TMEM67 TRAF7 TRH TRHR TSHB ZIC2 HP_CENTRAL_HYPOVENTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOVENTILATION ASCL1 CRLS1 DCTN1 HOXA1 LBX1 MECP2 MYPN NDUFAF2 PHOX2B RET TPM2 TPM3 HP_CENTRAL_NERVOUS_SYSTEM_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_NERVOUS_SYSTEM_CYST ABAT ADAR ADNP AFF3 AGTPBP1 AHDC1 ALG3 AP1S2 ARID1A ARID1B ARID2 ARMC9 ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BLTP1 BPTF BRAF BUB1 BUB1B BUB3 C2CD3 CC2D2A CCDC22 CDC42 CDKN1C CEP120 CEP290 CEP57 CHD7 COL3A1 COL4A1 CPLX1 CPT2 CRPPA CSF1R CSPP1 CTBP1 CTNNB1 D2HGDH DAG1 DDX3X DENND5A DHCR7 DOCK6 DOK7 DPF2 DPH1 DPH2 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP ERCC5 ESCO2 EVC EVC2 EXOC2 EXOSC3 EXOSC8 EXOSC9 FAR1 FARSA FGFR1 FGFR2 FGFRL1 FKRP FKTN FLVCR2 FTO GALNT2 GDF6 GFAP GFM1 GJB2 GJB6 GLI3 GLUL GMPPB GPC3 GPC4 GRIA3 GRM1 GTPBP2 HRAS HYLS1 IDH1 IFT80 IGF2 KANSL1 KCNQ1 KCNQ1OT1 KIAA0586 KIF21A KIF5A KIF7 KRAS LAMA1 LARGE1 LARS2 LETM1 LIPT2 LONP1 MAB21L1 MID1 MKS1 MT-ATP6 MTM1 MUSK MYOD1 NONO NPHP3 NRAS NSD2 NUP54 NUP62 NUP88 OCRL ODC1 OFD1 OPHN1 PDGFRB PDHA1 PDHB PDHX PEX1 PGAP2 PHGDH PIEZO2 PIGN PLCH1 PLG PMM2 PNPLA2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PSMD12 PUF60 RAPSN RNF113A RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SEPSECS SLC18A3 SLC25A46 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SNORD118 SNX14 SOX11 SOX4 TBC1D24 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TRIP13 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TUBGCP2 TXN2 TXNDC15 UQCC3 USP9X VPS35L VPS51 VRK1 VSX1 WASHC5 WDR26 WDR35 WDR73 WDR81 WLS ZIC1 ZSWIM6 HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA ANKRD55 CD247 COL18A1 CYP1B1 FOXC1 FOXE3 GNAS IL2RA IL2RB JAG1 NOD2 OVOL2 PAX6 PITX2 PTPN2 PTPN22 SLC4A4 STAT4 TACSTD2 TGFBI VSX1 HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR CDKN2A CHEK2 DICER1 KEAP1 MDM2 TP53 HP_CENTRAL_RETINAL_VESSEL_VASCULAR_TORTUOSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_RETINAL_VESSEL_VASCULAR_TORTUOSITY DNAJC30 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NEK1 SELENOI HP_CENTRAL_SCOTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SCOTOMA ABCA4 ATF6 CACNA1F CFAP410 CNGA3 CNGB3 CRX CYP1B1 CYP4V2 DNAJC30 DNM1L EFEMP1 ELOVL4 FDXR GNAT2 HGSNAT IMPG2 ITM2B MFN2 MFSD8 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTRFR MYOC NDUFS2 OPA1 OPA3 PDE6C PDE6H PITPNM3 POC1B PROM1 PRPH2 RAB28 RBP3 RDH5 RHO RLBP1 RP2 RPGR RTN4IP1 TIMM8A TMEM126A HP_CENTRAL_SLEEP_APNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SLEEP_APNEA AGRN ASCL1 CACNA1C CACNA1I CCDC47 CDK13 CHAT COL13A1 COQ2 DKK1 FBXO28 FGFR3 LRPPRC MAGEL2 MYO9A NADK2 NGLY1 PHOX2B PIGT PRPS1 RET SIM1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 USP7 VAMP1 HP_CENTRAL_Y_SHAPED_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_Y_SHAPED_METACARPAL CPLANE1 FAM149B1 INTU KIAA0753 KIF7 OFD1 PDE6D TCTN3 TMEM216 TOPORS HP_CENTROCECAL_SCOTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTROCECAL_SCOTOMA DNAJC30 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NDUFS2 OPA1 HP_CEPHALOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEPHALOCELE AHI1 AIPL1 ALX1 ALX3 ALX4 ARHGAP31 ARL13B ARL3 ARMC9 B4GAT1 B9D1 B9D2 C2CD3 CBY1 CC2D2A CDON CEP104 CEP120 CEP290 CEP41 COL18A1 CPLANE1 CRB1 CRPPA CRX CSPP1 CYP26B1 DISP1 DLL1 DLL4 DOCK6 EOGT ESCO2 FGF8 FGFR1 FGFR3 FKRP FKTN FLNA FLNB FOXH1 FRAS1 FREM2 GAS1 GDF6 GLI2 GMPPB GRIP1 GUCY2D HOXD13 HSPG2 HYLS1 IFT140 IFT74 IMPDH1 INPP5E IQCB1 KATNIP KCNJ13 KIAA0586 KIAA0753 LAMB1 LARGE1 LCA5 LRAT MKS1 MSX2 NMNAT1 NODAL NOTCH1 NPHP1 OFD1 PAK2 PCYT1A PDE6D PIBF1 POLR1B POLR1C POLR1D POMGNT1 POMK POMT1 POMT2 PTCH1 RBPJ RD3 RDH12 RPE65 RPGRIP1 RPGRIP1L SF3B2 SHH SIX3 SMO SPATA7 STIL SUFU TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TMTC3 TOGARAM1 TUBB4B TULP1 TXNDC15 USP45 VSX1 ZIC2 ZNF423 ZSWIM6 HP_CEPHALOHEMATOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEPHALOHEMATOMA CD109 CDC42BPB F2 F8 GP1BA GP1BB ITGA2 ITGA2B ITGB3 HP_CEREBELLAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_ATROPHY AARS1 AARS2 ABCD1 ABHD12 ACO2 ACTL6B ACY1 ADPRS ADSL AFG3L2 AGTPBP1 AIMP2 ALDH5A1 ALG1 ALG3 ALG9 ANO10 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 APTX ARCN1 ARF1 ARG1 ARMC9 ARX ATAD3A ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A1 ATP6V1A ATP8A2 ATPAF1 ATPAF2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS BCAP31 BCAS3 BCL11A BCORL1 BCS1L BEAN1 BRAT1 BTD C19orf12 CACNA1A CACNA1G CACNA2D2 CAMK2B CAMLG CARS1 CARS2 CASK CCDC88A CCDC88C CDC42 CDKL5 CERS1 CHP1 CIZ1 CKAP2L CLCN7 CLN3 CLN5 CLN8 CLPB CLTC CNP CNTNAP1 CNTNAP2 COA7 COG1 COG5 COG6 COG7 COG8 COL18A1 COL4A1 COQ2 COQ5 COQ8A COQ9 COX20 COX4I1 CPLX1 CRAT CRPPA CTBP1 CTSD CTSF CUL4B CUX2 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP27A1 DAB1 DARS2 DCLRE1B DEGS1 DHCR7 DHX30 DLG4 DMXL2 DNAJC3 DNM1L DNMT1 DOHH DPM1 EBF3 EEF2 ELOVL4 ELOVL5 EMC1 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 EXOSC2 EXOSC3 EXOSC5 EXOSC9 FA2H FAR1 FARS2 FAT2 FBXL4 FCSK FDXR FGF12 FGF14 FKRP FKTN FMR1 FOXRED1 FRRS1L GAD1 GBA2 GDAP2 GEMIN5 GFAP GFM2 GJB1 GLS GNAO1 GNS GON7 GPAA1 GRIA2 GRID2 GRIK2 GRIN1 GRM1 GRM7 GRN GTF2E2 GTF2H5 GTPBP2 HDAC4 HEPACAM HERC1 HEXB HK1 HSD17B4 HTT IBA57 IFIH1 IFRD1 IRF2BPL ITPR1 KAT5 KATNB1 KCNA1 KCNC1 KCNC3 KCND3 KCNJ10 KCNMA1 KCTD7 KIF1A KIF1C KY L2HGDH LAGE3 LAMA2 LETM1 LIG3 LIPT1 LMX1B LNPK LYRM7 LYST MAG MAN2B1 MAPK8IP3 MARS2 MCOLN1 MDH2 MECR MED11 MED27 MFF MFSD8 MGME1 MICOS13 MME MORC2 MPLKIP MRE11 MRM2 MRPS34 MT-ATP6 MT-ATP8 MTHFS MVK MYH3 NADK2 NALCN NARS2 NDE1 NDUFA1 NDUFA13 NDUFA8 NDUFA9 NDUFAF4 NDUFS1 NDUFS4 NEUROD2 NFASC NGLY1 NKX6-2 NMNAT1 NODAL NOP56 NOTCH2NLC NPTX1 NUP214 OPA1 OPA3 OSGEP PACS1 PCLO PCNA PDYN PEX10 PEX16 PEX2 PEX6 PI4KA PIGA PIGG PIGK PIGN PIGP PIGQ PIGS PIGT PIGU PIK3R5 PITRM1 PLA2G6 PLAA PLCH1 PLD3 PLK4 PLP1 PMM2 PMPCA PMPCB PNKP PNPLA6 PNPT1 POGZ POLA1 POLG POLG2 POLR1C POLR3A POLR3B POLR3K POMT1 PPP2R2B PRDX3 PRKCG PRNP PRRT2 PRUNE1 PTRH2 PUM1 QARS1 RARS2 RBL2 RELN REPS1 RFC1 RNASEH1 RNASEH2A RNF113A RNF13 RNF170 RNF216 RNU12 RORA RRM2B RTTN RUBCN SACS SAMD9L SC5D SCARB2 SCN1A SCN1B SCN2A SCN8A SCO2 SCYL1 SDHA SEMA6B SEPSECS SERAC1 SETX SH3TC2 SHANK3 SHQ1 SIK1 SIL1 SLC13A3 SLC1A3 SLC25A22 SLC25A4 SLC25A46 SLC31A1 SLC32A1 SLC33A1 SLC35A2 SLC35B2 SLC39A14 SLC39A8 SLC44A1 SLC5A6 SLC9A1 SLC9A6 SNX14 SOD1 SOX4 SPART SPG21 SPG7 SPTAN1 SPTBN2 SQSTM1 SRD5A3 STT3A STT3B STUB1 STXBP1 SUMF1 SYNE1 SYT14 TAF1 TARS1 TBC1D20 TBC1D24 TBC1D2B TBCD TBCE TBP TDP1 TECPR2 TGM6 TK2 TMEM240 TMX2 TOP3A TOR1A TPP1 TRAPPC11 TRAPPC4 TRAPPC6B TRIM8 TRMT1 TRPC3 TSEN2 TTBK2 TTC19 TTPA TUBB TUBB2B TUBB4A TWNK TXN2 UBA5 UBTF UCHL1 UFM1 VARS1 VLDLR VPS11 VPS13D VPS41 VPS4A VPS50 VPS53 VWA3B WARS2 WDR4 WDR45 WDR73 WDR81 WWOX XRCC1 XRCC4 YIF1B YRDC ZIC1 ZMIZ1 ZNF335 ZNHIT3 ZPR1 HP_CEREBELLAR_CALCIFICATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CALCIFICATIONS ERCC6 ERCC8 JAM2 PDGFB PDGFRB SLC20A2 SNORD118 TREX1 HP_CEREBELLAR_CORTICAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CORTICAL_ATROPHY PLAA SC5D SHANK3 SIL1 TWNK ZPR1 HP_CEREBELLAR_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CYST AFF3 AGTPBP1 AHDC1 ALG3 AP1S2 ARID1A ARID1B ARID2 ARMC9 ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BLTP1 BUB1 BUB1B BUB3 C2CD3 CC2D2A CCDC22 CDC42 CDKN1C CEP120 CEP290 CEP57 CHD7 COL3A1 COL4A1 CPT2 CRPPA CSF1R CSPP1 DAG1 DDX3X DENND5A DHCR7 DOCK6 DOK7 DPF2 DPH1 DPH2 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP ESCO2 EVC EVC2 EXOSC3 EXOSC8 EXOSC9 FAR1 FGFR1 FKRP FKTN FLVCR2 FTO GJB2 GJB6 GLI3 GMPPB GPC3 GPC4 GRIA3 GRM1 GTPBP2 HRAS HYLS1 IFT80 IGF2 KCNQ1 KCNQ1OT1 KIAA0586 KIF21A KIF5A KIF7 KRAS LAMA1 LARGE1 LONP1 MAB21L1 MID1 MKS1 MTM1 MUSK MYOD1 NPHP3 NRAS NUP88 OFD1 OPHN1 PDGFRB PDHA1 PGAP2 PHGDH PIEZO2 PIGN PLCH1 PLG PMM2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB RAPSN RNF113A RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SEPSECS SLC18A3 SLC25A46 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SNX14 SOX11 SOX4 TBC1D24 TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TRIP13 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TXNDC15 USP9X VPS35L VPS51 VRK1 WASHC5 WDR35 WDR73 WDR81 ZIC1 ZSWIM6 HP_CEREBELLAR_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_DYSPLASIA ADGRG1 ARMC9 B3GALNT2 BLTP1 CDC42 COG1 FKRP FKTN GPSM2 IDH1 KIAA0586 LAMA1 LARGE1 MICU1 PI4KA POMGNT1 POMT1 POMT2 PTEN RAC1 RXYLT1 SRPX2 THOC2 HP_CEREBELLAR_HEMISPHERE_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMISPHERE_HYPOPLASIA B4GAT1 LAMB1 MACF1 PRDM13 PTRH2 SON TSEN34 ZNF335 HP_CEREBELLAR_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMORRHAGE ACAD9 APP IVD MMUT PCCA PCCB HP_CEREBELLAR_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_MALFORMATION AFF3 AGTPBP1 AHDC1 ALG3 AP1S2 ARID1A ARID1B ARID2 ARMC9 ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BAZ1B BCL7B BCOR BICRA BLTP1 BUB1 BUB1B BUB3 BUD23 C2CD3 CC2D2A CCDC22 CDC42 CDC45 CDKN1C CEP120 CEP290 CEP57 CHD4 CHD7 CLIP2 COL3A1 COL4A1 CPT2 CREBBP CRPPA CSF1R CSPP1 CTSK CWC27 DACT1 DAG1 DDX3X DENND5A DHCR7 DHDDS DKK1 DNAJC30 DNMT3A DOCK6 DOK7 DPF2 DPH1 DPH2 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP EIF4H ELN EP300 ERF ESCO2 EVC EVC2 EXOSC3 EXOSC8 EXOSC9 FANCI FAR1 FBN1 FGFR1 FGFR2 FGFR3 FKBP6 FKRP FKTN FLNA FLVCR2 FOXF1 FTO FUZ GJB2 GJB6 GLI3 GMPPB GNAQ GPC3 GPC4 GRIA3 GRM1 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H3-3A HES7 HMGA2 HRAS HYLS1 IFT80 IGF2 IL11RA KANSL1 KCNQ1 KCNQ1OT1 KIAA0586 KIF21A KIF5A KIF7 KRAS LAMA1 LARGE1 LEMD3 LIMK1 LONP1 MAB21L1 MAF MAN2B1 MAP3K7 MBTPS2 METTL27 MID1 MKS1 MLXIPL MT-CYB MTM1 MUSK MYOD1 NCF1 NFIA NFKB2 NONO NOTCH2 NOTCH3 NOVA2 NPHP3 NRAS NUP88 OFD1 OPHN1 PAX2 PDGFRB PDHA1 PGAP2 PHEX PHGDH PIEZO2 PIGN PIK3CA PLCH1 PLG PMM2 POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPP1CB PPP1R12A PTCH1 PTH1R RAD51 RAPSN RECQL4 RFC2 RFWD3 RNF113A RPGRIP1 RPGRIP1L RRAS2 RXYLT1 SALL1 SC5D SEMA3E SEPSECS SETBP1 SETD2 SF3B2 SH2B1 SIK3 SKI SLC18A3 SLC25A46 SLC35A2 SLC39A14 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SMO SNX14 SON SOX11 SOX4 SPRED1 STAG1 STX1A TAOK1 TBC1D24 TBL1XR1 TBL2 TCTN1 TCTN2 TCTN3 TGFBR1 TGFBR2 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TMTC3 TONSL TRIP13 TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TXNDC15 USP9X VANGL1 VPS35L VPS37D VPS51 VRK1 WASHC5 WDR35 WDR73 WDR81 ZEB2 ZIC1 ZSWIM6 HP_CEREBELLAR_VERMIS_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_VERMIS_ATROPHY ADPRS ARF1 ATXN8OS BCL11A CACNA1A CACNA1G CACNA2D2 CHP1 CNTNAP2 COX20 CUL4B DAB1 DLG4 ELOVL5 FA2H FAR1 GJB1 GRID2 GTPBP2 HTT ITPR1 KIF1A LMX1B MARS2 MME NPTX1 OPA1 PEX16 PEX2 PIGS PIK3R5 PLP1 PMPCA POLR3B PRKCG PUM1 QARS1 RFC1 RNU12 SACS SCYL1 SEPSECS SETX SLC39A8 SLC9A1 STXBP1 SYT14 TDP1 TMEM240 TRPC3 TUBB VPS41 WDR4 XRCC4 HP_CEREBRAL_AMYLOID_ANGIOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_AMYLOID_ANGIOPATHY APOE APP CST3 ITM2B PSEN2 HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION ACVRL1 ENG EPHB4 IL6 KRAS RASA1 SMAD4 HP_CEREBRAL_BERRY_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_BERRY_ANEURYSM ANGPTL6 COL3A1 ENG PKD1 TGFBR3 THSD1 HP_CEREBRAL_CAVERNOUS_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CAVERNOUS_MALFORMATION ATP2B1 CCM2 KRIT1 PDCD10 PIK3CA HP_CEREBRAL_CORTICAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_ATROPHY AARS1 ABCA7 ACD ACO2 ACTB ACTG1 ACY1 ADARB1 ADGRV1 AGTPBP1 ALDH18A1 ALG8 ALS2 AMPD2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APOE APP ARX ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP8A2 ATPAF1 ATPAF2 ATRX ATXN2 B3GLCT B4GALNT1 BAZ1B BCAP31 BCL7B BICD2 BICRA BMP4 BRAF BRD4 BUB1 BUD23 CACNA1A CACNA1E CAMTA1 CARS1 CARS2 CASK CASZ1 CDC42 CDH23 CHCHD10 CHMP2B CIB2 CISD2 CIZ1 CLCN4 CLIP2 CLN5 CLP1 CNKSR2 COG1 CPA6 CPLX1 CTDP1 CTSF CWC27 CYB5A CYB5R3 DDB2 DGUOK DKC1 DNAJC13 DNAJC30 DOCK7 DPAGT1 DYRK1A EHMT1 EIF2B4 EIF4G1 EIF4H ELN ELOVL4 EMX2 EPG5 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ESPN EXOC7 EXOSC2 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FA2H FARS2 FBLN1 FGFR1 FKBP6 FKRP FMR1 FRMPD4 GABRA5 GABRD GBA1 GBA2 GDAP2 GET4 GIGYF2 GLYCTK GMPPB GNAQ GNPTAB GOLGA2 GON7 GPKOW GRIA3 GRIA4 GRIN1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HDAC8 HERC1 HEXB HIC1 HIVEP2 HNF1B HRAS HSD17B10 HSPG2 IARS2 IKBKG JPH3 KCNAB2 KCNT1 KDM6A KIF1A KMT2D KRAS LARGE1 LIMK1 LIPT2 LRRK2 LUZP1 MAF MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPT MARS2 MBTPS2 MDH2 MECP2 MED11 MEF2C METTL27 MINPP1 MLXIPL MMACHC MMADHC MMP23B MPLKIP MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTRR MUC1 MVK MYO5A MYO7A NCF1 NDE1 NDN NDP NDUFA8 NEK1 NEXMIF NIPBL NOVA2 NUP133 NUS1 OCA2 OCLN OPHN1 OTUD6B PAFAH1B1 PARN PARS2 PCDH15 PCDHGC4 PDE6D PDPN PDZD7 PEX1 PEX7 PGAP1 PHACTR1 PIGA PIGL PIGN PIGS PIGV PLAA PLK4 POGZ POLG2 POLR3A POLR3B POMT1 POMT2 POU4F1 PPFIBP1 PPP2R2B PRDM16 PRDX1 PRKCZ PRNP PRUNE1 PSEN1 PSEN2 PTDSS1 PUS3 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RARS2 RERE RFC2 RFT1 RHOBTB2 RMND1 RNASEH1 RNF113A RNF125 RNU12 RNU4ATAC RPS6KA3 RTEL1 SACS SCYL2 SETBP1 SHH SHQ1 SIX3 SKI SLC25A15 SLC25A46 SLC35C1 SLC39A4 SLC39A8 SLC9A6 SLITRK2 SMC1A SMC3 SNCA SNRPN SNX14 SORL1 SPATA5 SPEN SPG11 SPG7 SPTAN1 SQSTM1 STUB1 STX1A SYNJ1 TARS1 TBC1D20 TBCD TBK1 TBL2 TCTN3 TERT TINF2 TMCO1 TMEM106B TMEM147 TMEM270 TMEM70 TOMM40 TRAK1 TRAPPC12 TRAPPC6B TRAPPC9 TREM2 TRIM8 TRRAP TSEN15 TSEN54 TTC19 TUBGCP4 TUBGCP6 TWNK TYROBP UBE3A UBE4B UBTF UGP2 USH1C USH1G USH2A VARS1 VCP VPS13A VPS13C VPS35 VPS37D VRK1 WFS1 WHRN XPA XPC YWHAE ZNHIT3 ZSWIM6 HP_CEREBRAL_CORTICAL_HEMIATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_HEMIATROPHY ACTB ACTG1 EHMT1 MBTPS2 MYO5A TCTN3 HP_CEREBRAL_DYSMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_DYSMYELINATION AARS1 ABCD1 ADGRG1 CARS1 CTSK ERCC2 ERCC3 GTF2E2 GTF2H5 HSD17B4 MCOLN1 MPLKIP PHGDH PLP1 PSAP PTEN RNF113A SOX10 TARS1 HP_CEREBRAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_EDEMA ACAD9 ACADM ASL ASS1 ATP1A2 BCKDHA BCKDHB C1QBP CACNA1A COX16 CPS1 CPSF3 CPT2 DBT KCNQ2 LAMA2 LIAS NAXD NAXE NDUFS4 OTC PRRT2 RANBP2 SCN1A SLC25A13 SMS TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_CEREBRAL_HAMARTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HAMARTOMA CPLANE1 FAM149B1 GCDH GLI3 IFNG KIAA0753 KIF7 MAN2C1 OFD1 PDE6D SIX6 SMO SOX2 TCTN3 TIAM1 TMEM216 TOPORS TSC1 TSC2 VPS16 HP_CEREBRAL_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HEMORRHAGE ABCC6 ACTA1 ACVRL1 ADA2 AKT1 APP BAP1 BRCC3 CCM2 CD46 CFH CFI COL4A1 CPT2 CST3 DLST DNMT3A ENG EPAS1 EPOR EXT2 F13A1 F13B FCGR2C FGA FGB FGG FH FLNA FN1 GDF2 GGCX HADHB HELLPAR IKBKG JAK2 KIF1B KRIT1 LMOD2 MAX MDH2 NDE1 NF1 NF2 NOTCH3 PDCD10 PDGFB PIK3CA PROS1 RET SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SLC25A11 SMAD4 SMARCB1 SMARCE1 SMO SNORD118 STAT2 SUFU TERT TMEM127 TRAF7 USP18 VHL HP_CEREBRAL_HYPOMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOMYELINATION ADSL ALG2 BCAP31 CYB5A CYB5R3 EIF2B1 GJC2 HYCC1 MTHFS PGAP2 PGAP3 PHGDH PIGL PIGO PIGV PIGW PIGY PLP1 POLR3B RARS1 SLC1A4 SLC25A12 SOX10 SPATA5 STXBP1 TBCD TMTC3 TUBB4A VPS11 WDR26 HP_CEREBRAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOPLASIA ANKLE2 ARHGEF9 ASPM ATP1A1 BRAF BUB1B C2CD3 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CIT CNNM2 COASY COPB2 CSPP1 DHCR7 DPM1 FDXR FH FIG4 GCDH HHAT HSD17B4 KIAA0586 KIF14 KNL1 MBD5 MCM7 MCPH1 METTL5 MFSD2A MKS1 MYSM1 NCAPD3 NUP37 PHC1 PHGDH PYCR2 RNU4ATAC RTTN SARS1 SASS6 SLC35C1 STIL TAF13 TRAPPC10 TRAPPC14 VAC14 WARS1 WDR45B WDR62 HP_CEREBRAL_INCLUSION_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_INCLUSION_BODIES ABCA7 ADH1C APOE APP ATXN2 ATXN8OS C19orf12 CHMP2B CYLD DNAJC13 EIF4G1 EPM2A FBXO7 GBA1 GFAP GIGYF2 GLUD2 GRN HNRNPA1 HNRNPA2B1 ITM2B LRRK2 MAPT MPO MT-TT NHLRC1 NOS3 NPC1 NPC2 NR4A2 PLA2G6 PLAU POLG PRDM8 PRKN PRNP PSEN1 PSEN2 RAB39B SNCA SNCAIP SNCB SNORD118 SORL1 TBP TIA1 TMEM106B TOMM40 TREM2 VCP VPS13C VPS35 HP_CEREBRAL_INFARCT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_INFARCT ACTA2 ACVRL1 ADA2 BRCC3 COL4A1 COLGALT1 ELN ENG FBN1 FOXE3 GNB2 GUCY1A1 HEY2 HTRA1 JAK2 LOX MAT2A MFAP5 MYH11 MYLK NAGA NOTCH3 NPPA PIK3C2A POLG PRKG1 SCN5A SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SON TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 HP_CEREBRAL_ISCHEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_ISCHEMIA ABCC6 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 ANGPTL6 APP BAZ1B BCL7B BRAF BRCC3 BUD23 C4A CALR CBS CCR1 CITED2 CLIP2 COL3A1 COL4A1 COLGALT1 CTLA4 CTNNB1 DNAJC30 EIF4H ELN ENG ENPP1 EPHB4 ERAP1 FAS FBN1 FKBP6 FOXE3 GATA4 GATA6 GDF2 GLA GNB2 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 HEY2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HTRA1 IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL12B IL23R JAK2 KLRC4 KRAS LIMK1 LMNA LOX MAT2A MEFV METTL27 MFAP5 MLX MLXIPL MPL MYBPC3 MYH11 MYH6 MYH7 MYLK NAGA NAGS NCF1 NKX2-5 NOTCH3 NPPA P4HA2 PIK3C2A PIK3CA PRKG1 PRTN3 PTPN22 RASA1 RFC2 RNF213 SCN5A SCNN1A SCNN1B SCNN1G SH2B3 SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SON STAT4 STX1A TBL2 TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 THSD4 TLL1 TLR4 TMEM270 TP53 UBAC2 VPS37D ZMPSTE24 HP_CEREBRAL_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_PALSY ADAR ADD3 ADGRG1 AIP ALS2 ANKLE2 AP4E1 AP4M1 AP4S1 APC2 ARSA ARX ASNS ATP13A2 ATP5F1A ATP6V0A1 ATP8A2 AUH AUTS2 BCL11B CA8 CACNA1D CACNA1E CAMK2B CD109 CDC40 CIC CLIC2 CLN8 CNP CNPY3 CNTNAP2 COASY COG2 COL4A2 COLGALT1 CPLX1 CPSF3 CSF1R CTNNA2 CYB5A CYB5R3 DCC DCX DEGS1 DENND5A DNAL4 DNASE1L3 DPH5 DTYMK DYNC1H1 ELOVL4 EXOC2 FBXW11 FUCA1 GABRA2 GLB1 GLYCTK GNB1 GOT2 GP1BA GP1BB GPR101 GRIA4 GRIN1 GSX2 H4C5 HMGCL HPGD HSD17B10 IBA57 IDH1 IDH2 IDUA IFIH1 IREB2 ITGA2 ITGA2B ITGB3 KANK1 KARS1 KCNC2 KIF2A KIF5C LIAS LSM11 MCCC2 MCOLN1 MECP2 MINPP1 MOCS1 MOCS2 MRPS22 MTFMT NALCN NAXD NDE1 NDUFAF4 NDUFAF5 NRCAM NSRP1 NTN1 OSTM1 OTUD6B PCBD1 PCDH12 PDHX PET100 PHGDH PI4KA PLA2G6 PNP PPFIBP1 PPIL1 PRDM13 PRDM8 PRNP PROC PSMC1 RAB18 RAD51 RANBP2 RBM10 RNASEH2A RNASEH2B RNASEH2C RNF125 RNU7-1 SAMHD1 SCN2A SCN3A SCN4A SDHAF1 SEC31A SEPSECS SHMT2 SHQ1 SIX6 SLC16A2 SLC19A3 SLC1A4 SLC5A6 SLC6A3 SLCO2A1 SLITRK2 SMARCB1 SOX10 SOX2 SPATA5L1 SPR SPTAN1 SPTBN1 SRPX2 STXBP1 SYNJ1 SYT1 TANGO2 TBC1D20 TBCE TMX2 TREX1 TUBA1A TUBB2B TUBB3 TUBG1 UNC80 VLDLR VPS53 WARS2 WDR45B WDR73 WDR81 YIF1B HP_CEREBRAL_VENOUS_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VENOUS_THROMBOSIS F13A1 F2 HABP2 MTHFR PGM1 PROC PROS1 SERPINC1 HP_CEREBRAL_VISUAL_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VISUAL_IMPAIRMENT ADARB1 ADNP AFF3 AHDC1 AMPD2 ARHGDIA ARPC4 ASNS ATN1 BRAF BRAT1 CACNA1B CACNA1D CACNA1E CACNA1I CACNA2D1 CAMSAP1 CC2D2A CCDC47 CDKL5 CDON CEP85L CERT1 CHD3 CHKA CHMP1A CLCN4 CLCN6 CLP1 COG5 COPB2 COX6B1 CPSF3 D2HGDH DIAPH1 DISP1 DLL1 DOCK7 DOHH DPM1 DTYMK EMC1 FBXW7 FCSK FDFT1 FGF12 FGF8 FGFR1 FOXH1 FOXRED1 GABRA2 GABRB1 GABRB2 GAS1 GLI2 GLYCTK GNB1 GRIK2 GRIN1 GRIN2D GRM7 H3-3A HECW2 HK1 KAT6A KIF1A KIF5A KMT2B LMNB1 MACF1 MAPK8IP3 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFS NADK2 NAGA NARS2 NDUFAF1 NEDD4L NEUROD2 NODAL NR2F1 NUS1 P4HTM PARS2 PDSS2 PET100 PGAP1 PHGDH PIGA PIGP PIGQ PIGS PIGT PIGU PIGY PLCH1 POLG POLG2 POLR3GL PPP2R1A PPP3CA PRUNE1 PSMD12 PTCH1 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RALGAPA1 RERE RNF13 RRM2B SCN1A SCN3A SELENOI SEPSECS SHANK3 SHH SIX3 SLC25A1 SLC25A19 SLC25A4 SLC31A1 SLC35A2 SMC1A SNRPN SON SPATA5 SPATA5L1 SPTBN4 ST3GAL5 STAG2 STIL SUOX TANGO2 TBC1D20 TBCK TDGF1 TELO2 TGIF1 TIMM8A TMEM237 TMEM53 TRAF7 TRAPPC12 TRAPPC2L TSEN15 TSEN2 TSEN34 TSEN54 TUBGCP2 TWNK VAMP2 VPS11 VPS51 YIF1B ZIC2 HP_CEREBRAL_WHITE_MATTER_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_ATROPHY AIMP1 ALDH18A1 ALG11 ALG3 ASPA ATP8A2 ATXN2 BCAP31 CACNA1E CLN5 COG5 CPSF3 CSF1R DCX DNM1L DPM2 EIF2B4 EMC1 ERCC6 ERCC8 FA2H FAR1 GBA2 GFM2 HACE1 HSD17B4 HYCC1 IBA57 IDH1 IREB2 IRF2BPL L2HGDH LMNB1 MAG MAN2B1 MDH2 MYL9 NAXE NDUFA8 NSUN3 OPA1 PEX16 PHGDH PLAA POLR3K SLC35A2 SLITRK2 STUB1 STXBP1 TRAPPC11 TTC5 USP7 VPS41 HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA FDXR KDM1A NACC1 NARS1 PSAT1 SLC2A1 STRADA TMX2 WARS2 ZEB2 HP_CERVICAL_C2_C3_VERTEBRAL_FUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION AEBP1 AFF4 ASH1L ASXL2 BRPF1 CDH11 DKK1 FLNA GDF3 GDF6 MEOX1 MYO18B HP_CERVICAL_CORD_COMPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_CORD_COMPRESSION ARSL COMP CREBBP EP300 EXTL3 IDS IDUA NFIX RMRP HP_CERVICAL_KYPHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_KYPHOSIS ARSL CHST14 DSE FLNB GZF1 HSPG2 RIPPLY2 SLC26A2 SOX9 HP_CERVICAL_LYMPHADENOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_LYMPHADENOPATHY ARPC1B DEF6 ELANE HMOX1 RAC2 RASGRP1 SLC29A3 TNFRSF1A HP_CERVICAL_MYELOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_MYELOPATHY ARSB COL2A1 EXT1 EXT2 GALNS GLB1 NAXE NMNAT1 HP_CERVICAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_NEOPLASM CDKN1B CXCR4 FGFR3 GATA2 MAD1L1 SRY STK11 HP_CERVICAL_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_RIBS ACTB AFF3 ANKRD11 GATA6 GPC3 GPC4 IFT57 PDGFRB PUF60 RBM8A RUNX2 SF3B2 SON HP_CERVICAL_SPINAL_CANAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CANAL_STENOSIS ARSL CSPP1 EXTL3 FGFR3 IARS2 KANSL1 KIAA0586 MYH3 NFATC2 PHF6 TRPM3 HP_CERVICAL_SPINAL_CORD_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CORD_ATROPHY FXN GFAP NEFL PI4KA SPG7 HP_CERVICAL_SPINE_INSTABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINE_INSTABILITY ARSL B3GALT6 BGN COL2A1 COMP POP1 SMAD3 SOX9 TGFB3 TGFBR1 HP_CERVICAL_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SUBLUXATION ARSL COL2A1 DDR2 FLNB GALNS GLB1 IDUA MADD MMP2 RMRP HP_CESSATION_OF_HEAD_GROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CESSATION_OF_HEAD_GROWTH ATP10A EIF2B1 OCA2 PLAA SNRPN UBE3A HP_CHEILITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEILITIS AMN AP1S3 BANK1 BLK BLM C4A C4B CAST CLEC7A CR2 CTLA4 CUBN DNASE1 DSC3 ETS1 FCGR2B FCGR3B FERMT1 GJB2 GJB6 HLA-DRB1 IGHG1 IL10 IL17F IL17RA IL17RC IL36RN IRAK1 IRF5 ITGAM JAZF1 KIAA0319L KRT16 KRT17 KRT6A KRT6B MALT1 MBTPS2 MECP2 OCRL PDCD1 PERP PKP1 PTPN22 PXK SLC39A4 SLC46A1 SPP1 SREBF1 STAT4 TLR7 TNFAIP3 TNFSF4 TNIP1 TRAF3IP2 TREX1 UBE2L3 HP_CHERRY_RED_SPOT_OF_THE_MACULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHERRY_RED_SPOT_OF_THE_MACULA ASAH1 CTSA DARS1 FUCA1 GALC GLB1 GM2A HEXA HEXB NEU1 PSAP SMPD1 TMEM231 YME1L1 HP_CHEST_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEST_PAIN ABCC9 ACTA2 ACTC1 ADAMTS19 APC BAP1 BTNL2 CALR CAV3 CDH2 CFTR COL3A1 COL4A5 COL4A6 CRLF1 CTLA4 CTNNB1 DBH DLEC1 DLST DNMT3A DPM3 DSG2 ELN ENG EPAS1 EXT1 EXT2 FBN1 FH FOXE3 GATA4 GATA5 GATA6 GJA5 GNAS HBB HEY2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 IL12B IRAK1 IRF4 JAK2 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNQ1 KIF1B LOX MAT2A MAX MDH2 MEF2A MEFV MFAP5 MLX MPL MT-TK MYBPC3 MYH11 MYH7 MYL2 MYL4 MYLK NF1 NKX2-5 NKX2-6 NOD2 NOS1 NPPA NUP155 PIGA PITX2 PLN PNPLA2 PPA2 PPOX PRKAG2 PRKAR1A PRKG1 PRTN3 PTPN22 RASA1 RET RNF6 SAT1 SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SLC25A11 SLC34A2 SMAD2 SMAD3 SMAD4 SPP1 STAT4 STX16 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 THPO THSD4 TMEM127 TMEM43 TNFRSF1A TNNC1 TP53 TSC1 TSC2 TTN VHL WAS WIPF1 WWOX HP_CHIARI_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_MALFORMATION BAZ1B BCL7B BICRA BUD23 CDC45 CHD4 CLIP2 CREBBP CSF1R CTSK CWC27 DACT1 DHCR7 DHDDS DKK1 DNAJC30 DNMT3A DPF2 EIF4H ELN EP300 ERF FANCI FBN1 FGFR1 FGFR2 FGFR3 FKBP6 FLNA FOXF1 FUZ GNAQ GTF2I GTF2IRD1 GTF2IRD2 H3-3A HES7 HMGA2 HRAS IL11RA KANSL1 KRAS LEMD3 LIMK1 MAF MAN2B1 MAP3K7 MBTPS2 METTL27 MKS1 MLXIPL NCF1 NFIA NFKB2 NONO NOTCH2 NOTCH3 NOVA2 PAX2 PHEX PIEZO2 PIK3CA POLR3A POLR3B POR PORCN PPP1CB PPP1R12A PTCH1 PTH1R RAD51 RECQL4 RFC2 RFWD3 RRAS2 SALL1 SC5D SETBP1 SETD2 SF3B2 SH2B1 SIK3 SKI SLC39A14 SMARCA2 SMO SON SPRED1 STAG1 STX1A TAOK1 TBL1XR1 TBL2 TGFBR1 TGFBR2 TMEM270 TMEM94 TONSL TRPM3 VANGL1 VPS37D ZEB2 HP_CHIARI_TYPE_I_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_TYPE_I_MALFORMATION CDC45 CREBBP CSF1R CWC27 DHCR7 DHDDS DKK1 DNMT3A DPF2 ELN EP300 ERF FGFR2 H3-3A HRAS KANSL1 KRAS MAF MLXIPL NFIA NFKB2 NONO NOTCH3 NOVA2 PAX2 PIEZO2 POLR3A POLR3B PPP1CB RAD51 SETBP1 SETD2 SH2B1 SKI SLC39A14 SMO SPRED1 STAG1 TAOK1 TMEM94 TRPM3 ZEB2 HP_CHILBLAINS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILBLAINS ADAR C1QB DNASE2 IFIH1 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1 HP_CHILDHOOD_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET AAAS AARS2 ABCA4 ABCB6 ABHD12 ACADS ACADSB ACO2 ACP5 ACSL4 ACTC1 ADA2 ADAM10 ADAMTS19 ADAR ADCY3 ADGRV1 ADPRS AEBP1 AFG3L2 AGA AGPAT2 AGR2 AGRN AGTPBP1 AICDA AIFM1 AIRE ALAS2 ALDH5A1 ALG10B ALG2 ALPK3 ALS2 AMFR AMT ANK1 ANKH ANKS6 ANTXR2 AP1S2 AP4E1 APC2 APCDD1 APRT APTX AQP5 ARG1 ARHGEF9 ARL6IP1 ARSB ARSK ASAH1 ASPH ATM ATOH1 ATP11A ATP13A3 ATP1A2 ATP1A3 ATP2A1 ATP2B1 ATP2B2 ATP5F1D ATP5MC3 ATP6AP1 ATP6V0A4 ATP6V1A ATP7B ATP9A ATR ATRX B3GALNT2 B4GALNT1 BAAT BAG3 BANF1 BBS2 BDP1 BFSP1 BGN BICD2 BRCA1 BTD BTK C19orf12 C1QB C1QC C3 CA5A CACNA1B CACNA1H CACNA1I CACNA1S CACNB4 CACNG2 CAD CADM3 CALM1 CALM2 CAPN3 CARD9 CARMIL2 CASK CASQ2 CASR CAV1 CBFB CBLIF CBS CC2D1A CCDC134 CCDC39 CCDC78 CCT5 CD19 CD46 CD55 CDH2 CEP290 CEP78 CFAP410 CFAP74 CFB CFI CFL2 CFTR CHCHD10 CHD2 CHKA CHM CHP1 CHRNA2 CHRNA4 CHRNE CIB1 CIC CILK1 CLCN1 CLCN2 CLCN7 CLCNKB CLDN19 CLIC5 CLN8 CLPB CLRN1 CNGA3 CNNM2 CNP COA7 COA8 COASY COL10A1 COL17A1 COL18A1 COL1A1 COL1A2 COL27A1 COL2A1 COL4A1 COL6A2 COL9A2 COPA COPB2 COQ6 COQ8A COQ8B COX6A1 CPA6 CPT1A CPT2 CRAT CRB1 CRB2 CRPPA CSF1R CSF3R CTNNBL1 CTSD CUBN CUX2 CWF19L1 CXCR2 CYB561 CYBB CYP11B1 CYP27B1 CYP2R1 CYP2U1 CYP3A4 CYP7B1 DAAM2 DAB1 DAG1 DARS1 DBR1 DDB1 DDHD2 DEF6 DGKE DHX38 DIAPH1 DMD DMXL2 DNAH1 DNAH11 DNAH9 DNAJB4 DNAJC21 DNAJC3 DNAJC30 DNASE1L3 DOK7 DPAGT1 DPYD DSP DSTYK DTNBP1 DYM DYNC1H1 DZIP1L ECM1 EDAR EDARADD EDC3 EFL1 EIF2AK2 EIF2B4 EIF2B5 ELF4 EMC10 EMD EMILIN1 ENPP1 EPRS1 ERCC4 ERCC6 ERF ERLIN2 EXOC7 EXPH5 EXT1 EXT2 F13A1 F2 F7 FA2H FANCB FBLN5 FBXO7 FCGR2A FCHO1 FCSK FDXR FECH FEZF1 FGA FGB FGD4 FGF13 FGF14 FGFR1 FGG FHL1 FKTN FLG FLNC FLVCR1 FMR1 FOXE3 FOXP2 FRG1 FRRS1L FTSJ1 FZR1 G6PC1 G6PD GABRA3 GABRG2 GALC GALE GATM GBA1 GBA2 GBF1 GCDH GCH1 GDAP1 GEMIN5 GFAP GFPT1 GH1 GHR GIMAP5 GJB2 GJC2 GK GLB1 GLRA2 GLS GMPPB GNB2 GNB3 GNPTAB GNS GON7 GOSR2 GPIHBP1 GPNMB GPR101 GRM6 GRXCR2 GTPBP2 GTPBP3 GUCY1A1 GUCY2D GYG1 HABP2 HADHB HARS1 HAVCR2 HAX1 HCN1 HDAC4 HECTD4 HEPACAM HGSNAT HINT1 HK1 HPDL HPRT1 HS6ST2 HSD11B2 HSPG2 HYAL1 HYDIN ICOS IDH3A IDS IDUA IFIH1 IFT140 IFT43 IGHM IGHMBP2 IGKC IKBKB IKZF1 IL11RA IL17RC IL21R IL36RN IL6ST IMPDH1 IMPG2 INPP5K INSR IRF2BPL IRF7 IRF8 ISCU ITK ITPR3 JAG1 JAG2 KANK2 KBTBD13 KCNA2 KCNB1 KCNC1 KCNH2 KCNJ11 KCNMA1 KCNN2 KCNN4 KCNQ1 KCNQ5 KCNT1 KCTD17 KDELR2 KDM5C KERA KIF12 KIF14 KIF1C KIF3B KIRREL1 KLC2 KMT2A KMT2B KPTN KRT1 KRT14 KRT5 KRT74 KRT83 LACC1 LAGE3 LAMA2 LAMA5 LAMP2 LCK LEP LETM1 LGI3 LIG1 LIG3 LIMS2 LIPN LMBRD1 LMNA LMNB2 LNPK LOXL3 LPIN1 LRIG2 LRIT3 LTBP3 LTV1 LYRM7 MACF1 MAD1L1 MAD2L2 MAFB MAG MAP2K2 MAP3K20 MAPK8IP3 MARS1 MARS2 MAST3 MCM3AP MCM6 MECP2 MECR MEFV MEGF10 MERTK MFN2 MIR184 MLIP MLPH MMP14 MMP2 MOCOS MPIG6B MPZL2 MRE11 MRPS7 MS4A1 MSMO1 MSX1 MTHFR MTRFR MTX2 MYH7 MYO1E MYO5B MYPN MYRF NAT8L NAXD NAXE NBEA NCF4 NDP NDRG1 NDST1 NDUFA1 NDUFA6 NDUFAF2 NDUFAF6 NDUFC2 NEFL NEMF NF1 NFATC2 NFIX NFKB1 NFKB2 NFU1 NGF NKX2-1 NKX6-2 NLGN3 NLGN4X NLRP1 NLRP3 NMNAT1 NPC2 NPHS2 NR0B1 NR4A2 NRIP1 NSD1 NT5C2 NUBPL NUP133 NUP62 NUP85 NUS1 NYX OAT OCRL OFD1 OPA1 ORAI1 OTC P3H2 PADI3 PANK2 PANK4 PCDH19 PCSK1 PDE6B PDE6C PDE6G PDGFB PDGFRB PDK3 PDSS1 PDXK PEPD PET117 PEX10 PEX13 PEX16 PEX2 PFKM PGAP1 PHKA2 PHKB PHKG2 PI4KA PIDD1 PIGM PIK3CD PIK3R1 PITPNM3 PITRM1 PKHD1 PKLR PLA2G6 PLCE1 PLCG2 PLEC PLEKHG5 PLEKHM1 PLP1 PLXNA1 PMM2 PMP22 PMPCB PNKD PNKP PNPLA8 PNPT1 POC1B POLA1 POLE POLG POLR1C POLR3A POLR3B POLRMT POMT1 POMT2 PPA2 PPCS PPP2CA PPP3CA PRDM12 PRKAG2 PRKG2 PRKRA PROM1 PRPF8 PRPS1 PRSS12 PRX PSAP PSMB8 PSMD12 PTPRQ PURA PUS1 PUS7 PYGM PYROXD1 RAB28 RAB33B RAC1 RACGAP1 RAD51 RAF1 RASGRP2 RAX2 RBP4 RDH11 RDH12 REEP1 REEP2 REEP6 REL REST RGS9BP RHO RHOBTB2 RHOH RIGI RIPOR2 RMRP RNF170 RNF216 RNF220 RORB RORC RP1 RP2 RPE65 RPGR RPS19 RPS26 RPS29 RRAGD RRM2B RSPH9 RTN4IP1 RYR1 RYR2 SAMD9 SAMHD1 SASH3 SBF2 SCAPER SCN1A SCN2A SCN3A SCN4B SCN5A SCN8A SCNN1B SCYL1 SDHB SEC23B SEC61A1 SERPINB7 SERPING1 SETD1A SFRP4 SGCD SGCE SGCG SGPL1 SGSH SH2D1A SH3BP2 SH3TC2 SIGMAR1 SIL1 SIN3A SLC12A5 SLC12A6 SLC13A3 SLC16A1 SLC19A2 SLC19A3 SLC20A2 SLC22A5 SLC24A1 SLC24A4 SLC25A19 SLC26A1 SLC2A10 SLC30A9 SLC34A1 SLC34A2 SLC38A3 SLC39A4 SLC39A7 SLC4A4 SLC52A3 SLC6A1 SLC6A19 SLC7A14 SLC9A1 SMPD1 SMPX SNORD118 SNRPN SNX10 SNX14 SOCS1 SOX11 SOX18 SPARC SPART SPATA5L1 SPG11 SPG21 SPTLC1 SPTLC2 SSBP1 STAT1 STAT2 STAT3 STEAP3 STIM1 STK11 STK4 STN1 STS STT3A STX11 STX1B STXBP2 SVIL SYNE1 SYNE2 SYNE4 SYT14 SYT2 TACO1 TACSTD2 TBC1D24 TBC1D2B TBC1D8B TBCE TBX18 TCF3 TCF4 TCHH TECPR2 TECRL TFG TGFB1 TGFBI THRB TIAM1 TICAM1 TIMM8A TINF2 TK2 TMEM126B TMEM240 TMEM38B TMEM63C TMPRSS3 TNFAIP3 TNFRSF9 TNNT2 TP63 TPK1 TPM1 TPM2 TPP1 TPP2 TPRKB TRAC TRAF3 TRAF3IP2 TRAPPC10 TRAPPC11 TRAPPC6B TRDN TREX1 TRIO TRIP13 TRNT1 TRPM3 TRPV4 TRRAP TTC19 TTC8 TTLL5 TTN TUBB4A TUBB4B TULP3 TUSC3 UBA5 UBAP1 UBTF UCHL1 UFSP2 UNC119 UNC13D UNC45B UNG UPF3B UQCRH UROC1 USP48 USP53 VAC14 VCP VEGFC VHL VMA21 VPS13D VPS16 VPS37A VPS41 VWA1 WARS2 WDR19 WDR45 WDR62 WFS1 WNT10A WT1 XIAP XPC ZFYVE19 ZMYND10 ZNF408 ZNF644 ZNF711 ZNFX1 HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT ADCY1 ATP2B2 CDH23 COCH ESPN FOXP2 GIPC3 GJB2 GJB6 HGF IARS2 IGF1 MARVELD2 NDE1 PRG4 RIPOR2 SARDH SETBP1 TIMM8A TK2 HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY INPP5E MC4R PCSK1 POMC VPS13B HP_CHILLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILLS ANK1 EPB41 EPB42 GYPC HADHA HADHB HAVCR2 MVK NLRP3 PKHD1 SLC4A1 SPTA1 SPTB TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_CHIN_WITH_HORIZONTAL_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_HORIZONTAL_CREASE CDH11 DLK1 EED FOXP1 MEG3 NAA10 RTL1 SCNM1 TRPS1 TWIST2 HP_CHIN_WITH_H_SHAPED_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_H_SHAPED_CREASE DLK1 MEG3 MYH3 NALCN RTL1 HP_CHOANAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOANAL_STENOSIS ASXL3 BUB1 CEP55 DCHS1 FAM20C FAT4 FGFR1 FGFR2 FGFR3 FRAS1 KMT2D MBTPS2 MSL3 NFIX PAICS POLR1B POLR1D POR PTDSS1 PTH1R RECQL4 SALL4 SCARF2 SETBP1 SOST TXNL4A HP_CHOKING_EPISODES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOKING_EPISODES AGRN CACNA1A CHAT COL13A1 DNM1 HTT MYO9A PLA2G6 SCN4A SLC18A3 SLC25A1 SLC2A3 SLC5A7 SNAP25 SYT2 VAMP1 ZNF699 HP_CHOLANGIOCARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGIOCARCINOMA BMP6 DZIP1L GPR35 HFE MST1 PKHD1 SEMA4D TCF4 HP_CHOLANGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGITIS ABCB4 ABCD1 BCAP31 BCS1L CD40LG CIITA CLDN1 DCDC2 DZIP1L IFT140 IGHG2 IGKC IL21R IL36RN ITCH KIF12 MED12 PKHD1 REL RFX5 RFXANK RFXAP WDR35 HP_CHOLECYSTITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLECYSTITIS ABCB11 ABCB4 ACVRL1 ALDOA ARSA ATP8B1 CALR ENG F5 GDF2 GPI HK1 IGHG2 IGKC JAK2 MECP2 NR1H4 PKLR PNPLA2 PSAP SMAD4 TFE3 TPI1 HP_CHOLESTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTASIS ABCB11 ABCB4 ABCC2 ABCD1 ABCD3 ACADVL ADAMTS13 ADAR ADK AGR2 AKR1D1 ALDOA ALDOB ALG6 ALG8 AMACR ANK1 ANKS6 AP1B1 AP1S1 APC2 APOA1 ARG1 ARL13B ASAH1 ATP11C ATP6AP1 ATP6AP2 ATP7A ATP7B ATP8B1 B2M BAAT BCAP31 BCS1L BLVRA BRCA1 BRCA2 CA5A CALR CASK CASR CCDC115 CDAN1 CDIN1 CDKN1B CDKN2A CEP83 CFTR CLDN1 COG6 COG7 COX4I2 CPA1 CPOX CTCF CTRC CYP27A1 CYP7A1 CYP7B1 DCDC2 DEF6 DGUOK DHCR7 DHFR DNASE2 DPAGT1 DUOX2 DUOXA2 DZIP1L EARS2 EIF2AK3 EPB41 EPB42 EPCAM ETFA ETFB ETFDH F5 FARSB FCGR3B FGA FH FLI1 FOCAD G6PD GALE GALK1 GALM GALT GCLC GFM1 GH1 GLIS3 GLRX5 GNAS GNB2 GPI GPR35 GYPC HADHA HADHB HBB HBG2 HESX1 HK1 HMGCL HNF1B HSD17B4 HSD3B7 HTRA2 HYOU1 IARS1 IER3IP1 IFIH1 IFT140 IFT172 IL12A IL12RB1 IL18BP IL2RG INSR IRF5 IYD JAG1 JAK2 KCNN4 KIF12 KIF23 KMT2D KMT2E KRAS KRT18 KYNU LBR LHX3 LHX4 LIPA LPL LSM11 LYST LYZ MARS1 MED12 MMACHC MMEL1 MPV17 MST1 MYO5B NAA10 NBAS NEK8 NEUROG3 NKX2-5 NOTCH2 NPC1 NPC2 NPHP3 NR1H4 NSD1 OCLN PALB2 PALLD PARS2 PAX8 PCSK1 PEPD PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGM1 PHKA2 PHKG2 PIEZO1 PIGA PKD2 PKHD1 PKLR POLG POLG2 POMC POU1F1 POU2AF1 PRF1 PRKAR1A PROP1 PRPS1 PRSS1 PRSS2 PTPN3 RAB27A RABL3 RBCK1 RFX6 RHAG RHCE RHD RINT1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 SAA1 SAMHD1 SC5D SEC23B SEMA4D SERPINA1 SETD2 SHPK SKIC3 SLC10A1 SLC16A2 SLC25A13 SLC26A4 SLC2A1 SLC2A2 SLC30A10 SLC37A4 SLC44A1 SLC4A1 SLC51A SLC51B SLC5A5 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SP110 SPIB SPINK1 SPOP SPTA1 SPTB SPTBN1 STX11 STXBP2 TBX19 TCF4 TFAM TG TJP2 TMEM67 TMPRSS6 TNFSF15 TNPO3 TP53 TPI1 TPO TRAF3IP1 TREX1 TRHR TRMU TSHB TSHR TTC26 TULP3 UBR1 UGT1A1 UNC13D UNC45A UROS USP53 VIPAS39 VPS33B VPS50 WDR35 YARS1 ZFYVE19 ZNF699 HP_CHOLESTATIC_LIVER_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTATIC_LIVER_DISEASE AMACR CCDC115 DHCR7 DNASE2 EPCAM HADHA HSD3B7 NEUROG3 NOTCH2 PERCC1 PRF1 SHPK STX11 STXBP2 UNC13D VIPAS39 VPS33B YARS1 HP_CHOLESTEATOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTEATOMA APC2 COG1 DDR2 EYA1 FOCAD NFIX NKX2-1 NSD1 SETD2 SIX1 SYK HP_CHONDROCALCINOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROCALCINOSIS ALPL ANKH AP2S1 ATP7A ATP7B CDC73 CLCNKB FXYD2 GCM2 GNA11 HYAL1 KCNJ1 LMNA MEFV MEN1 NOTCH3 PDGFRB SLC12A1 SLC12A3 TNFRSF11B TNFRSF1A WRN HP_CHONDROSARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROSARCOMA EXT1 EXT2 IDH1 IDH2 NR4A3 PTH1R TAF15 HP_CHORDEE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORDEE CARS1 CDC42BPB COX7B DYRK1A FGFR1 HCCS HOXA13 KDM1A MAP3K1 NDUFB11 POR PPP1R12A PTDSS1 SRY ZEB2 ZMYM2 ZNF699 HP_CHOREA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREA AARS1 ABHD16A ACAT2 ACP5 ADA2 ADAR ADCY5 ALS2 AP1S2 AP2M1 APTX ARSA ARX ATG7 ATM ATN1 ATP1A2 ATP1A3 ATP5MK ATP7A ATXN1 ATXN2 ATXN7 BANK1 BLK C4A C4B CACNA1A CACNA1B CACNA2D1 CACNA2D2 CARS2 CASK CDKL5 CERS1 CHKA CHMP1A CIC CLCN4 CLPB COX20 CP CR2 CTDP1 CTLA4 DCAF17 DDC DHX30 DLAT DMXL2 DNASE1 DPYSL5 DYSF EIF2AK2 ELP2 ERCC2 ERCC6 ETS1 FBXL4 FBXO28 FCGR2B FCGR3B FOXG1 FRRS1L FTL FUS FXN GABRA2 GABRG2 GAMT GCDH GCH1 GJC2 GLYCTK GM2A GNAO1 GNAS GON7 GPR88 GRIA2 GRIA4 GRIK2 GRIN1 GRIN2B GRM7 GTPBP2 GUF1 HCFC1 HLA-DRB1 HPRT1 HSD17B10 HSPD1 HTT IGHG1 IL10 IRAK1 IREB2 IRF2BPL IRF5 ITGAM JAZF1 JPH3 KCNA1 KCNMA1 KCNN2 KIAA0319L KIF1C KIF5A LRPPRC MECP2 MECR MED23 MICOS13 MICU1 MMUT MRE11 MRM2 MRPS34 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MYORG NADK2 NAXD NDUFA1 NDUFA13 NDUFA9 NDUFAF5 NEUROD2 NGLY1 NKX2-1 NPTX1 NUP54 NUP62 OPA3 PANK2 PDCD1 PDE10A PDE2A PDGFB PDGFRB PDHA1 PIGN PIGP PIGQ PIK3R5 PITX3 PLA2G6 PLP1 PNKD PNKP PNPT1 POLG POU3F3 PRNP PRRT2 PSAP PSMC1 PTPN22 PTS PUM1 PXK QDPR RHOBTB2 RNF216 SCN1A SCN1B SCN2A SCN8A SEPSECS SETX SH2B1 SHQ1 SIGMAR1 SIK1 SLC13A5 SLC16A2 SLC19A3 SLC1A3 SLC20A2 SLC25A22 SLC25A42 SLC2A1 SLC2A3 SLC30A9 SLC32A1 SLC6A3 SLC6A8 SPG11 SPOP SPP1 SPR SPTBN4 SPTLC1 ST3GAL5 STAT4 STUB1 STXBP1 SUCLG1 SUOX SYT1 TAF1 TBP TIMM50 TLR7 TMEM106B TMEM151A TNFAIP3 TNFSF4 TNIP1 TNR TOE1 TRAPPC11 TREM2 TREX1 TRIM8 TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TUBB4A TYROBP UBE2L3 UBTF UGDH VAMP2 VPS13A VPS4A WARS2 XK XPA XPR1 ZNF142 HP_CHOREOATHETOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREOATHETOSIS ABHD16A ADAR ADCY5 AP1S2 ARX ATG7 ATM ATN1 ATP1A2 ATP1A3 CACNA1A CACNA1B CASK CDKL5 CERS1 CHKA CLPB COX20 DCAF17 DDC DLAT DMXL2 EIF2AK2 ELP2 ERCC2 ERCC6 FBXL4 FBXO28 FRRS1L FTL GABRG2 GCDH GCH1 GJC2 GNAO1 GNAS GON7 GRIK2 GRIN1 GRM7 GTPBP2 GUF1 HCFC1 HPRT1 HSD17B10 HSPD1 IREB2 IRF2BPL KCNA1 MECP2 MED23 MICOS13 MICU1 MMUT MRE11 MRPS34 MT-ATP6 NADK2 NDUFA1 NDUFA13 NDUFA9 NDUFAF5 NEUROD2 NKX2-1 NUP54 NUP62 OPA3 PANK2 PDE2A PDHA1 PIGN PIGP PIGQ PIK3R5 PLP1 PNKD PNKP PNPT1 POLG POU3F3 PRRT2 PTS QDPR SCN1A SCN1B SCN2A SCN8A SEPSECS SETX SH2B1 SIK1 SLC13A5 SLC16A2 SLC1A3 SLC25A22 SLC25A42 SLC2A1 SLC30A9 SLC32A1 SPR SPTBN4 ST3GAL5 STXBP1 SUCLG1 SUOX SYT1 TIMM50 TMEM106B TMEM151A TNR TOE1 TRIM8 TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TUBB4A VPS13A XPA XPR1 HP_CHORIOCAPILLARIS_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCAPILLARIS_ATROPHY ACVRL1 CRB1 CYP4V2 GUCA1A GUCY2D PRPH2 TIMP3 HP_CHORIOCARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCARCINOMA BCL10 CDKN2A CHEK2 FGFR3 KIT MDM2 STK11 TP53 HP_CHORIORETINAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_ATROPHY ACVRL1 C1QTNF5 CFH CFI CHM CLCN2 COL18A1 CRB1 CRX CTNNB1 CYP4V2 EFEMP1 EYS FSCN2 FZD4 GUCA1A GUCY2D HADHA HMX1 JAG1 KRAS LCA5 LRAT LRP5 NDE1 NDP NRL OAT PAX2 PNPLA6 PRPH2 RNU7-1 ROM1 RPE65 SAG SLC25A15 SPATA7 TEAD1 TIMP3 TSPAN12 VCAN ZNF408 HP_CHORIORETINAL_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_COLOBOMA ABCB6 ACTB AKT1 BCOR BMP4 C12orf57 CASK CC2D2A CCDC22 CEP290 CHD7 CHN1 CLDN19 DACT1 DPYSL5 GDF3 GZF1 HHAT HMGB3 HMX1 INPP5E MAFB MPDZ NAA10 PAX6 PIGL PORCN PTEN RBP4 RERE RPGRIP1L SALL1 SALL4 SEMA3E SHH SIX3 SIX6 SPTBN1 TBX22 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 VPS35L WAC WASHC5 YAP1 ZEB2 ZNF423 ZNF668 HP_CHORIORETINAL_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DEGENERATION ACVRL1 ADAMTS18 C1QTNF5 CFH CFI CHM CLCN2 COL18A1 COL8A2 CRB1 CRX CTNNB1 CYP4V2 DPP6 EFEMP1 EYS FSCN2 FZD4 GRHL2 GUCA1A GUCY2D HADHA HMX1 JAG1 KRAS LCA5 LRAT LRP5 NDE1 NDP NRL OAT OVOL2 PAX2 PNPLA6 POU3F4 PRPH2 RNU7-1 ROM1 RP2 RPE65 SAG SLC25A15 SPATA7 TEAD1 TIMP3 TSPAN12 VCAN VSX1 ZEB1 ZNF408 HP_CHORIORETINAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DYSPLASIA B3GALNT2 B4GAT1 COL4A1 COX7B CRPPA DAG1 FKRP FKTN HCCS KIF11 LARGE1 NDUFB11 OCRL POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TUBGCP4 TUBGCP6 HP_CHORIORETINAL_HYPOPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_HYPOPIGMENTATION DCT IFNG MAGEL2 PAX6 SIM1 SLC25A15 TSC1 TSC2 VPS33A WT1 HP_CHOROIDAL_HEMANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDAL_HEMANGIOMA CCM2 GNAQ KRIT1 PDCD10 PIK3CA HP_CHOROIDAL_NEOVASCULARIZATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDAL_NEOVASCULARIZATION ABCC6 AGXT APOE C1QTNF5 CFH CFHR1 CFHR3 CFI CLCN2 CLEC3B EFEMP1 ENPP1 FBLN1 FBLN5 FBN2 HLA-A HMCN1 MAPKAPK3 PRPH2 TIMP3 XYLT1 XYLT2 HP_CHOROIDEREMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDEREMIA BEST1 CHM EPHA2 IMPG1 IMPG2 POU3F4 PRPH2 UBE3B HP_CHOROID_PLEXUS_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CARCINOMA CDKN2A CHEK2 MDM2 SMARCB1 TP53 HP_CHOROID_PLEXUS_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CYST EXOC8 FH FOXF1 IFT43 NEDD4L NPHP3 PHGDH SETBP1 ZBTB18 ZSWIM6 HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS BRCA2 BRIP1 COX4I1 DCLRE1B FANCA FANCC FANCD2 FANCE FANCF FANCI FANCL MAD2L2 PALB2 RAD51 SLX4 UBE2T HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION AKT1 BAP1 NF2 PDGFB PIK3CA RAD50 RNF168 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_CHROMOSOME_BREAKAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOME_BREAKAGE AKT1 BAP1 BLM BRCA1 BRCA2 BRIP1 COX4I1 DCLRE1B DNAJC21 ERCC4 FANCA FANCC FANCD2 FANCE FANCF FANCI FANCL FMR1 MAD2L2 MCM4 NF2 PALB2 PDGFB PIK3CA RAD50 RAD51 RAD51C RNF168 SLX4 SMARCB1 SMARCE1 SMO SUFU TERT TMEM185A TRAF7 UBE2T XRCC2 HP_CHRONIC_AXONAL_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_AXONAL_NEUROPATHY COG8 GDAP1 HSPB1 KCNJ10 SETX SPTLC1 SYNE1 HP_CHRONIC_BRONCHITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_BRONCHITIS ALMS1 CARMIL2 CCDC39 CCDC40 CCDC65 CFAP298 CFTR DNAAF11 DNAAF4 DNAAF5 DNAH7 DNMT3B GUSB HYDIN ODAD2 ODAD3 RAC2 RSPH4A SCNN1A SCNN1B SCNN1G SERPINA1 SPAG1 TRAF3IP1 ZBTB24 ZMYND10 HP_CHRONIC_CONSTIPATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_CONSTIPATION ABL1 ADAT3 ADNP AFF3 ARSB ASH1L BICRA CAMK2B CAMTA1 CNP COL1A1 COL5A1 COL5A2 CREBBP DCPS DDOST DNAJC13 EIF4G1 EIF5A ELF4 ELN EP300 ERBB2 FAR1 FBXO28 FGF12 GATAD2B GBA1 GIGYF2 GNB2 GRIA1 H1-4 H3-3A H3-3B H4C5 HIVEP2 HNRNPH2 HS2ST1 IGBP1 IPO8 KMT5B LBX1 LMNB1 LMNB2 LRRK2 MADD MAGEL2 MARS2 MECP2 MED13 MEFV MLXIPL MLYCD MNX1 MOGS MSL3 MYH11 MYO1H NGLY1 NSD2 ODC1 OPA1 OTUD6B PAK2 PCGF2 PHOX2B POGZ POU4F1 PPP1CB PPP1R21 PPP2R1A PRKG2 PSMB8 RAI1 RORA SETD1A SETD5 SH2B1 SLC12A2 SLC25A36 SLC38A3 SMO SNCA SOX17 SPART SPATA5 SPOP SUPT16H TANC2 TAOK1 TBCD TCEAL1 TFE3 TMCO1 TNFRSF1A TRIM8 TRIO UBE2A UFC1 UGP2 UPF3B USP7 USP9X VPS35 WASF1 ZNF292 HP_CHRONIC_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_DIARRHEA ADA ADNP AGR2 ALG1 ANTXR2 ASAH1 ATM ATP5F1A ATP6AP1 ATP7A BACH2 BTK C4B CARD11 CARD8 CARMIL2 CASP8 CCDC47 CD3D CD3G CHD7 CLMP COG4 COG6 CR2 CYP27A1 DCLRE1C DNASE2 DOCK2 EPCAM ERCC2 ETHE1 FCHO1 FOXP3 GUCY2C HEATR3 HEXB HYOU1 IDS IDUA IGHM IGKC IKBKB IKBKG IL21R IL2RA IL2RG IL6ST IL7R IPO8 IRF2BP2 ITCH ITGB2 JAK3 KMT5B LIG4 LRBA MADD MGME1 MTTP MVK NBN NFKBIA NSUN2 ORAI1 OTULIN PERCC1 PGM1 PIK3CD PIK3R1 PKP1 POLA1 PPP2R5D RAG1 RAG2 RBCK1 REL RMRP RNF113A RYR3 SAA1 SAMD9 SKIC2 SLC10A2 SLC35C1 SLC39A4 SLC51A SLC51B SLC5A1 SON SREBF1 STX3 TCF3 TERT TFRC TKFC TNFRSF1A TOM1 USP7 VPS45 WAS WIPF1 ZAP70 HP_CHRONIC_FATIGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FATIGUE ALDH4A1 BRCA1 BRCA2 CDKN2A EIF2AK4 IVNS1ABP KRAS MC2R MDM4 MRAP NLRP3 NNT PALB2 PALLD PSAP RABL3 SMAD2 SMAD3 SMAD4 STAR TK2 TP53 TXNRD2 HP_CHRONIC_FURUNCULOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FURUNCULOSIS CTSC IL17RA OTULIN PSEN1 PSENEN HP_CHRONIC_GASTRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_GASTRITIS ELF4 FOCAD IGHG2 IGKC IPO8 HP_CHRONIC_HEMOLYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEMOLYTIC_ANEMIA ABCG8 HBB NHLRC2 PKLR SPTB TPI1 HP_CHRONIC_HEPATIC_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATIC_FAILURE ALDOB BMP6 CC2D2A GPR35 HADHA HADHB HFE INPP5E MST1 RPGRIP1L SEMA4D SP110 TCF4 TMEM67 HP_CHRONIC_HEPATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS AIRE ALMS1 C4B CD40LG CIITA HBB IL21R PGM1 RFX5 RFXANK RFXAP SKIC2 HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION CIITA IL21R RFX5 RFXANK RFXAP HP_CHRONIC_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_INFECTION BCHE BCOR CARD9 CLCN7 FIP1L1 HBB IRF2BP2 MAGT1 NABP1 NPM1 NUMA1 PLEKHM1 PML PRKAR1A RARA RPS14 SF3B1 STAT3 STAT5B TBL1XR1 TCIRG1 TET2 ZBTB16 HP_CHRONIC_KIDNEY_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_KIDNEY_DISEASE ACP5 ACTN4 AGXT AHI1 ALDOB ALG5 ALG9 ALMS1 ANKFY1 ANKS6 ANLN APOL1 APRT ARHGAP24 ARHGDIA AVIL B2M BBIP1 BICC1 BNC2 BSND C3 CC2D2A CD151 CD2AP CD81 CEP164 CEP290 CEP83 CFH CFHR5 CHRNA3 CLCN5 CLCNKA CLCNKB CLDN16 CLDN19 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COQ6 COQ8B CORIN CPT2 CRB2 CTNS DAAM2 DCDC2 DGKE DNAJB11 DSTYK DZIP1L EHHADH EIF2AK3 EMP2 FAN1 FLT1 FN1 GANAB GAPVD1 GATA3 GATM GCDH GLIS2 GON7 GSN HNF1B HNRNPK IFNG IFT122 IFT140 IFT172 IFT43 INF2 INVS IQCB1 JAG1 KYNU LAGE3 LAMA5 LAMB2 LDHA LMX1B LZTFL1 MAFB MAGI2 MAPKBP1 MEFV MMP1 MMUT MT-TL1 MUC1 MYO1E MYOCD NDUFAF6 NEK8 NOD2 NOS1AP NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NTRK1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OSGEP PAX2 PBX1 PIGA PKD1 PKD2 PKDCC PKHD1 PLCE1 POLRMT PPOX PRKCD PRPS1 PTPRO PUS3 PYGM RAD51C REN RNU7-1 ROBO1 RPGRIP1L RRM2B SAA1 SARS2 SDCCAG8 SEC61A1 SGPL1 SH2B1 SLC22A12 SLC2A9 SLC30A9 SLC34A1 SLC37A4 SLC41A1 SLC4A2 SLC7A7 SMARCAL1 SOX18 SPRY2 SRCAP STOX1 TBC1D8B TMEM126B TMEM231 TMEM67 TP53RK TPRKB TRAF3IP1 TRPC6 TSC1 TSC2 TTC21B TTC26 WDR19 WT1 XPNPEP3 YRDC ZMPSTE24 ZNF699 HP_CHRONIC_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LEUKEMIA ABL1 ADAR ASXL1 BCR IFIH1 JAK2 KIT LSM11 MEFV MPL PIK3R1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SRSF2 TET2 THPO TREX1 WAS WIPF1 HP_CHRONIC_LUNG_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LUNG_DISEASE AFF4 BLM CDON CFTR CSPP1 CTCF DISP1 DLL1 FCGR2A FGF8 FGFR1 FOXE1 FOXH1 GAS1 GLI2 HABP2 ITCH KIAA0586 LAT LRBA LRRC56 MINPP1 NODAL PEPD PIGY PLCH1 PRIM1 PTCH1 RIPK1 SERPINH1 SFTPB SHH SIX3 SMC1A STAG2 STIL TDGF1 TGFB1 TGIF1 THSD1 ZIC2 ZNF699 HP_CHRONIC_LYMPHATIC_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHATIC_LEUKEMIA ADAR ASXL1 IFIH1 KIT LSM11 MEFV PIK3R1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SRSF2 TET2 TREX1 HP_CHRONIC_LYMPHOCYTIC_MENINGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHOCYTIC_MENINGITIS CIITA RFX5 RFXANK RFXAP SLC35C1 HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS ADA AIRE AP3B1 CARD9 CARMIL2 CD247 CD3D CD3E CD3G CD40LG CIITA CLEC7A CORO1A DCLRE1C DOCK2 EPG5 IKBKB IKBKG IL17F IL17RA IL17RC IL2RA IL2RG IL6ST IL7R ITGB2 JAK3 KNSTRN LCK MVK NFKBIA PGM3 PIK3CD RFX5 RFXANK RFXAP RORC SP110 SREBF1 STAT1 STAT3 STK4 TFRC TLR8 TOM1 TRAC TRAF3IP2 WDR1 ZAP70 ZNF341 HP_CHRONIC_MYELOGENOUS_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MYELOGENOUS_LEUKEMIA ABL1 BCR JAK2 MPL THPO HP_CHRONIC_NEUTROPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NEUTROPENIA CDC40 CXCR2 DNAJC21 EFL1 FIBP LRBA PPIL1 SBDS SLC37A4 SRP54 HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY ABCA1 ATRX CASP10 DAXX FAS FASLG FOXE1 HABP2 MINPP1 PRKCD RASGRP1 SDHD HP_CHRONIC_ORAL_CANDIDIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_ORAL_CANDIDIASIS AIRE AP3B1 CARD9 CD247 CD3D CD3E CD3G CD40LG CORO1A DCLRE1C DOCK2 IKBKB IL17RA IL2RA IL2RG JAK3 KNSTRN LCK MVK PIK3CD RORC STAT1 TFRC TLR8 TRAC TRAF3IP2 WDR1 ZAP70 ZNF341 HP_CHRONIC_OTITIS_MEDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_OTITIS_MEDIA ABCA12 AGA AK2 ALOX12B ALOXE3 ANKRD11 APC2 ARVCF ASPRV1 BAZ1B BCL7B BLNK BTK BUD23 CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD79A CD79B CD81 CFAP221 CFAP298 CFAP300 CFAP45 CFAP74 CLIP2 COMT CPLX1 CR2 CTBP1 CTLA4 CYP4F22 DEAF1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DOCK8 DRC1 EIF4H ELN FGFR2 FKBP6 FLII FMR1 FOXJ1 GAS2L2 GAS8 GATA2 GNB2 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA HLA-DPA1 HLA-DPB1 HYDIN ICOS IGHM IGLL1 IL11RA IL6ST IQSEC2 IRF2BP2 IRF6 JMJD1C KAT6A LETM1 LIMK1 LIPN LRRC56 LRRC8A MCIDAS METTL27 MLXIPL MS4A1 MSX1 NCF1 NECTIN1 NEK10 NELFA NFKB1 NFKB2 NIPAL4 NME5 NME8 NSD1 NSD2 NXN OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PGM3 PIGG PIK3R1 PRKCD PRTN3 PTPN22 RAI1 RFC2 ROR2 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RUNX2 SDR9C7 SEC24C SETD2 SLC25A12 SLC39A7 SPAG1 SPEF2 SPI1 STAT3 STK36 STX1A SULT2B1 TAF1 TAP1 TAP2 TAPBP TBL2 TBX1 TBX4 TCF3 TGDS TGM1 TMEM270 TNFRSF13B TNFRSF13C TNFSF12 TP63 TP73 TTC12 UFD1 VPS37D WAS WIPF1 ZMYND10 HP_CHRONIC_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PAIN ATXN3 COL7A1 CTSK FLVCR1 MMP1 TGFB2 HP_CHRONIC_PANCREATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PANCREATITIS GK PNPLA2 SLC37A4 SPINK1 XPNPEP3 HP_CHRONIC_PULMONARY_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PULMONARY_OBSTRUCTION ALMS1 ARVCF BLM CARMIL2 COMT CTLA4 CYBA CYBB CYBC1 DNAAF4 GLA GP1BB HIRA HLA-DPA1 HLA-DPB1 HMOX1 JMJD1C MCIDAS MMP1 MPEG1 NCF1 NCF2 NCF4 NFKB1 PRTN3 PTPN22 RAC2 RREB1 RSPH1 RSPH3 RSPH9 SEC24C SERPINA1 TBX1 THSD4 UFD1 WAS WIPF1 HP_CHRONIC_RHINITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_RHINITIS ALG12 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CLCN7 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 HYDIN LRRC56 MCIDAS NEK10 NLRP1 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RAG1 RAG2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SASH3 SLC29A3 SNX10 SPAG1 SPEF2 SPINK5 STK36 TCIRG1 TNFSF11 TTC12 ZMYND10 HP_CHRONIC_SINUSITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_SINUSITIS BLNK CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD79B CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP74 CFTR CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FCGR2A FOXJ1 GAS2L2 GAS8 HYDIN IGHG2 IGKC LIG4 LRRC56 MCIDAS MGP NEK10 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PGM3 PIK3CD PIK3R1 PTEN RNF168 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SASH3 SPAG1 SPEF2 STK36 TAP1 TAP2 TAPBP TGFB1 TTC12 ZMYND10 HP_CHYLOTHORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHYLOTHORAX ACTA1 ADAMTS3 ALG14 BRAF BTNL2 CBL CCBE1 EPHB4 FAT4 FOXC2 HLA-DRB1 KIF11 MAP2K1 PIEZO1 PTPN11 RASA1 TSC1 TSC2 HP_CIGARETTE_PAPER_SCARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIGARETTE_PAPER_SCARS COL12A1 COL1A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 CTSC SLC39A13 HP_CIRRHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIRRHOSIS ABCB11 ABCB4 ABHD5 ACVRL1 AGPAT2 ALDOB ALMS1 AP1B1 AP1S1 APC APOE ARG1 ARHGAP31 ASS1 ATP6AP1 ATP6AP2 ATP7B ATP8B1 AXIN1 BCS1L BMP2 BMP6 BSCL2 CALR CASP8 CAV1 CAVIN1 CC2D2A CCDC115 CD40LG CEACAM3 CEACAM6 CFTR CLCA4 COG4 COG6 CP CTC1 CTNNB1 CYP7B1 DCDC2 DCTN4 DGUOK DHCR7 DKC1 DLL4 DOCK6 EDNRA ENG EOGT F5 FAH FARSB FCGR2A FECH FOS GALT GBA1 GBE1 GCLC GDF2 GLRX5 GPR35 GSTM3 HAMP HBB HFE HJV HMOX1 HSD3B7 IFT43 IGF2R IL12A IL12RB1 IL21R INPP5E IRF5 ITCH JAG1 JAK2 KCNN4 KIF12 KIF3B KRT18 LBR LIG3 LIPA MARS1 MED12 MET MIF MMEL1 MPI MPV17 MST1 MTTP MUC5B NGLY1 NHP2 NOP10 NOTCH1 NPHP3 NPM1 NR1H4 PARN PDGFRL PEX1 PHKA2 PHKB PHKG2 PIGA PIK3CA PKHD1 POLG POU2AF1 PPARG PRIM1 PYGL RBPJ RPGRIP1L RRM2B RTEL1 SCARB2 SEMA4D SERPINA1 SFTPA2 SFTPC SKIC2 SKIC3 SLC11A1 SLC25A13 SLC26A9 SLC30A10 SLC40A1 SLC6A14 SLC7A7 SLC9A3 SMAD4 SMPD1 SPIB STX1A TALDO1 TCF4 TERC TERT TFAM TFR2 TGFB1 TINF2 TJP2 TMEM67 TNFSF15 TNPO3 TP53 TREX1 TRMT5 TTC26 TULP3 TYMP TYMS UROD USB1 WRAP53 YARS1 ZFYVE19 HP_CLAW_HAND_DEFORMITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLAW_HAND_DEFORMITY HK1 HSPB1 INF2 NDRG1 PDXK SIGMAR1 HP_CLEFT_ALA_NASI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_ALA_NASI ALX4 FRAS1 FREM2 GRIP1 PORCN HP_CLEFT_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_LIP ACTB ADA2 ALX3 ALX4 AMER1 ANKRD17 ARHGAP31 ASXL1 B3GLCT BCOR BMP4 C2CD3 CC2D2A CCDC32 CDH1 CDON CEP120 CHD7 CHST14 CHUK CILK1 COLEC10 COLEC11 CPLANE1 CPLX1 CTBP1 CTNND1 CYP26C1 DDX3X DDX59 DEAF1 DHODH DISP1 DLL1 DLX4 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFNB1 EIF2S3 EPG5 ESCO2 EVC EVC2 FAM20C FBXO11 FGD1 FGF20 FGF8 FGFR1 FGFRL1 FKRP FKTN FLII FLNB FLRT3 FOXA2 FOXC2 FOXF1 FOXH1 FRAS1 FREM2 FZD2 GAS1 GATA1 GDF11 GFRA1 GJA1 GLI2 GLI3 GPC3 GPC4 GREB1L GRHL3 GRIP1 H4C3 HEATR3 HESX1 HOXD13 HYLS1 IFT57 IFT80 INTS1 INTU IQSEC2 IRF6 ITGA8 JARID2 JUP KANSL1 KAT5 KATNIP KIF7 LARGE1 LETM1 LHX4 LMX1B MASP1 MED12 MEIS2 MEOX1 MID1 MKS1 MSX1 MSX2 MTHFR MYL11 NAA10 NBN NECTIN1 NEK1 NELFA NIPBL NODAL NSD2 NSDHL NSMF NUAK2 NUP107 OCLN OFD1 OTX2 PAX3 PHF8 PHGDH PIGG PIGL PIGN PIGV PLCH1 POLR1B POLR1C POLR1D POMT1 POMT2 PORCN POU1F1 PROKR2 PROP1 PTCH1 RAB5IF RAI1 RERE RET RIC1 RIPK4 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 SEMA3E SF3B2 SF3B4 SHH SIX3 SLC29A3 SLC2A10 SMAD4 SMC1A SMCHD1 SMG9 SMO SMOC1 SMPD4 SNRPB SPECC1L SPOP STAG2 STIL SUMO1 TAPT1 TBX2 TCOF1 TCTN2 TCTN3 TDGF1 TFAP2A TFE3 TGDS TGIF1 TMCO1 TP63 TRAPPC9 TRRAP TSR2 TXNL4A UBB VANGL2 VAX1 WDR35 WLS WNT3 WNT4 WNT5A WNT9B YAP1 ZIC2 ZSWIM6 HP_CLEFT_SOFT_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_SOFT_PALATE ADA2 BUB1 COL2A1 DDX59 DVL1 DYRK1A FKBP14 GATA1 GNB2 GRHL3 H4C5 HEATR3 IPO8 KCNK9 MED12 MSX2 NEK1 NONO NXN POLR3A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SCNM1 SLC25A19 SMARCD1 SNRPB SON STAC3 TCOF1 TGFB3 TP63 TSR2 UBB ZPR1 HP_CLEFT_UPPER_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_UPPER_LIP ACTB ALX3 AMER1 ARHGAP31 ASXL1 B3GLCT BCOR CC2D2A CDH1 CDON CEP120 CHD7 CHUK CILK1 COLEC10 COLEC11 CPLANE1 CPLX1 CTBP1 CTNND1 CYP26C1 DDX3X DDX59 DEAF1 DHODH DISP1 DLL1 DLX4 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFNB1 EPG5 ESCO2 EVC EVC2 FAM20C FGD1 FGF20 FGF8 FGFR1 FGFRL1 FKRP FKTN FLII FLNB FOXA2 FOXC2 FOXH1 FRAS1 FREM2 FZD2 GAS1 GDF11 GFRA1 GJA1 GLI2 GLI3 GPC3 GPC4 GREB1L GRHL3 GRIP1 H4C3 HESX1 HOXD13 HYLS1 IFT80 INTU IQSEC2 IRF6 ITGA8 JUP KANSL1 KAT5 KIF7 LARGE1 LETM1 LHX4 LMX1B MASP1 MED12 MEIS2 MEOX1 MID1 MKS1 MSX1 MSX2 NAA10 NBN NECTIN1 NEK1 NELFA NIPBL NODAL NSD2 NSDHL NUAK2 OFD1 OTX2 PAX3 PHF8 PHGDH PIGG PIGN PIGV PLCH1 POLR1B POLR1C POLR1D POMT1 POMT2 PORCN POU1F1 PROKR2 PROP1 PTCH1 RAB5IF RAI1 RET RIPK4 RPGRIP1L RPL5 RPS19 RSPO2 SEMA3E SF3B2 SF3B4 SHH SIX3 SLC29A3 SLC2A10 SMAD4 SMC1A SMO SMOC1 SMPD4 SPECC1L SPOP STAG2 STIL SUMO1 TAPT1 TCOF1 TCTN2 TCTN3 TDGF1 TFAP2A TGDS TGIF1 TMCO1 TP63 TRAPPC9 TXNL4A VAX1 WDR35 WLS WNT3 WNT5A WNT9B YAP1 ZIC2 ZSWIM6 HP_CLINODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY ABCC8 ABL1 ACVR1 ADNP AFF2 AGO2 AKT1 ALDH1A2 ALG12 ALG3 ALX1 ALX3 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1A ARID1B ARID2 ATG7 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GLCT BAZ1B BBS7 BCL7B BCOR BCR BHLHA9 BLM BLTP1 BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 CACNA1G CAMSAP1 CANT1 CASZ1 CBL CCDC22 CCDC32 CCDC47 CCDC8 CCNK CCNQ CD96 CDC42 CDC45 CDC6 CDH1 CDH11 CDK10 CDK13 CDKN1C CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHSY1 CITED2 CKAP2L CLCF1 CLCN3 CLIP2 CNOT2 CNOT3 COG5 COG8 COL11A1 COL27A1 COL2A1 COLEC10 CPLANE1 CREBBP CRKL CSGALNACT1 CSNK2A1 CTCF CUL4B CUL7 DACT1 DCHS1 DDX11 DDX3X DEAF1 DHPS DLEC1 DLK1 DLX3 DLX5 DNA2 DNAJC30 DONSON DPAGT1 DPF2 DSP DVL1 DVL3 DYM EFNB1 EIF4A3 EIF4H ELN EMG1 EP300 EPB41L1 ERCC4 ERMARD ESCO2 EVC EVC2 EXOSC5 EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO11 FGD1 FGF10 FGF16 FGFR1 FGFR2 FGFR3 FIG4 FKBP6 FLI1 FLII FLNA FLNB FLT4 FN1 FOXP1 FOXP2 FRA10AC1 FZD2 G6PC3 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GMNN GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H3-3B H4C3 HDAC4 HDAC8 HEATR3 HEPHL1 HERC2 HIC1 HMGA2 HNRNPH1 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HSPG2 HUWE1 IFT122 IFT140 IFT43 IFT52 IGF1 IGF1R IGF2 IHH IL11RA INPP5E INTU IQSEC2 IRX5 ITCH JAG1 JUP KAT6B KAT8 KCNAB2 KCNJ11 KCNJ2 KCNJ5 KCNK4 KCNN3 KCTD1 KDM1A KDM4B KDM5C KDM6B KDR KIAA0753 KIF15 KIF7 KIFBP KLF13 KMT2A KMT2B KMT2D KNSTRN KPTN KRAS L1CAM LEMD3 LIG4 LIMK1 LMNA LMNB2 LMX1B LTBP1 LUZP1 LZTR1 MACROH2A1 MAD2L2 MAF MAGEL2 MAN1B1 MAP1B MAP2K1 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MCTP2 MECOM MECP2 MED12 MED13L MED25 MEF2C MEG3 MEGF8 METTL27 MIA3 MID2 MITF MKRN3 MKS1 MLXIPL MMP23B MRAS MTRR MYCN MYL11 MYOD1 NAA10 NAA20 NARS1 NARS2 NCAPG2 NCF1 NEDD4L NEK1 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NOG NONO NPAP1 NPR2 NPR3 NRAS NSD2 NSMF NSUN2 NUP107 NUP188 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT ORC1 ORC4 ORC6 PACS1 PACS2 PAFAH1B1 PAH PAICS PALB2 PAX1 PAX3 PCDHGC4 PCGF2 PCNT PDE6D PDPN PGAP2 PGAP3 PHF21A PHGDH PHIP PIEZO2 PIGH PIGL PIGN PIGO PIGS PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLK4 PLXND1 PNPLA6 POC1A POLA1 POLE POLR3A POMP POR PPP1R15B PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRR12 PTEN PTH1R PTPN11 PUF60 PUM1 PWAR1 PWRN1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP2 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RALA RASA2 RB1 RBBP8 RBM10 RBM8A RERE REV3L RFC2 RFWD3 RFX7 RHOA RIT1 RNF216 RNF6 RNU4ATAC ROR2 RPL10 RRAS RRAS2 RSPRY1 RTL1 RUNX2 SALL1 SATB2 SEMA3E SF3B4 SH3PXD2B SHANK3 SHOX SIAH1 SIK3 SIN3A SIN3B SKI SLC29A3 SLC2A10 SLC35A1 SLC9A7 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMOC1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX14 SOS1 SOS2 SOX11 SOX4 SOX5 SOX6 SPART SPECC1L SPEN SPOP SPRED1 SPRED2 SPRTN SRCAP SSR4 STAG1 STAG2 STAMBP STX1A SUZ12 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX15 TBX4 TBX5 TCF20 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TGFBR2 TMEM147 TMEM216 TMEM270 TNNT3 TOPORS TP63 TPR TRAF7 TRAIP TRAPPC9 TRIO TRIP12 TRIP13 TRMT10A TRPM3 TRPS1 TRPV4 TRRAP TWIST1 TWIST2 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDR11 WDR19 WDR35 WDR4 WIPI2 WNT5A WNT7A WWOX XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZC4H2 ZFPM2 ZMYM2 ZNF292 ZNF462 ZNF668 HP_CLINODACTYLY_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_2ND_FINGER CHSY1 CSGALNACT1 FOXP2 HNRNPR IFT140 KNSTRN MED12 PIK3CD HP_CLINODACTYLY_OF_THE_3RD_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_3RD_FINGER DLK1 KNSTRN MEG3 PIK3CD PKDCC RTL1 HP_CLINODACTYLY_OF_THE_5TH_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_5TH_TOE ALG3 CKAP2L DLEC1 FRA10AC1 HEPHL1 KCNJ2 KCNJ5 PIGH RAB3GAP2 RNF6 SALL1 TGFBR2 WWOX HP_CLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONIC_SEIZURE ACSF3 ADAM22 ALDH7A1 ARX ASNS ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A CACNA2D1 CASK CDKL5 COX11 CUX2 DENND5A DMXL2 DNM1 DPM2 FRRS1L FZR1 GABBR2 GABRA1 GABRG2 GLYCTK GNAO1 GNB1 GRIA2 GRIK2 GRIN1 GRIN2A GRM7 HCN1 KANSL1 KCNA1 KCNK4 KCNQ2 KCNQ3 KCNT1 KIF5A KIF5C LGI1 MICAL1 NAPB NEUROD2 PACS2 PCDH12 PCDH19 PEX3 PIGA PIGP PIGQ PLCB1 PLPBP PNKP PRRT2 PSAP RELN SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SIK1 SLC12A5 SLC25A22 SLC32A1 SMARCAL1 SPTBN1 SRPX2 ST3GAL3 TBC1D24 TPK1 TRIM8 UFSP2 HP_CLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONUS AARS1 ABCB7 ABCD1 ADGRG1 ALS2 AMPD2 ANO10 ASNS ATL1 ATP6AP2 BRAT1 CAMLG CAPN1 CARS1 CAV1 CCDC88C CCT5 CD40LG CYP27A1 CYP7B1 DNM1 DTYMK EMILIN1 ERLIN1 ERLIN2 FA2H FGF13 FKRP FUS GALC GBA2 GFM2 GMPPB GOLGA2 HIKESHI HTRA2 HTT KCNQ2 KCNQ3 KCNT1 KDM1A KIF1A KIF1C KIF5A KLC2 KPNA3 LMNB1 MARS1 MED17 MICU1 MTRFR MYL2 NADK2 NDP NDUFS8 NIPA1 OCRL OSTM1 PC PET100 PEX16 PI4KA PIGP PIGT PLA2G6 POMGNT1 POMK POMT1 POMT2 POU3F4 PRPS1 PRUNE1 PSAP PTS RAB18 RAB3GAP2 REEP1 RNASEH1 RTN2 RUSC2 SAMD9L SELENOI SEPSECS SETX SIGMAR1 SLC16A2 SLC1A4 SLC25A15 SLC25A21 SLC2A3 SLC33A1 SLC39A14 SLC44A1 SLC52A3 SLC6A9 SMG9 SOD1 SPART SPAST SPG11 SPTBN1 SPTBN2 SPTLC1 STUB1 SYNE1 TANGO2 TCEAL1 TIMM50 TIMM8A TRAK1 TSEN2 UBAP1 UCHL1 UFC1 USP8 VAC14 VCP VPS37A WASHC5 ZFYVE26 ZFYVE27 HP_CLOSED_NEURAL_TUBE_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOSED_NEURAL_TUBE_DEFECT ABCD1 ALX4 ARPC4 ARSB ARVCF B3GALNT2 BMPER BTD CCL2 CEP290 COL18A1 COL2A1 COMT CPLANE1 CRPPA CSPP1 CYP27A1 DACT1 DKK1 DLL3 EXT1 EXT2 FKRP FKTN FLNA FRAS1 FREM2 FUZ GALNS GJA1 GLB1 GLI3 GMPPB GNPTAB GP1BB GRIP1 H19 HES7 HIRA HNRNPK IGF2 INPP5E JMJD1C KCNQ1OT1 KIAA0586 LARGE1 LFNG MESP2 MSX2 NAXE NF2 NMNAT1 NOTCH3 OFD1 PAX3 POMGNT1 POMT1 POMT2 PORCN PTCH1 RASA1 RIPPLY2 RREB1 SC5D SEC24C SIN3A SMO SNRPB TBX1 TBXT TMEM216 TMEM237 UFD1 VANGL1 VANGL2 WNT7A ZIC3 ZSWIM6 HP_CLOVERLEAF_SKULL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOVERLEAF_SKULL EXTL3 FGFR1 FGFR2 FGFR3 MEGF8 POR RAB23 WDR35 HP_CLUBBING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING AARS1 ABCA12 ABCA3 ACVRL1 ATP11A BMPR1A BRCA1 BRCA2 BRIP1 BTNL2 CARS1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD55 CDC45 CFAP221 CFAP298 CFAP300 CFAP74 CFTR DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DPP9 DRC1 DSP EIF2AK4 ENG ERCC2 ERCC3 ERCC4 FAM13A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FCGR2A FLNB FOXJ1 GAS2L2 GAS8 GJB6 GTF2E2 GTF2H5 HLA-DRB1 HNRNPH1 HPGD HSPG2 HYDIN IL21 IL6ST INTU JAG1 KRT1 KRT10 KRT16 KRT9 LIFR LRBA LRRC56 MAD2L2 MALT1 MARS1 MCIDAS MPLKIP MUC5B NCKAP1L NEK10 NLRP3 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PALB2 PARN PIGL POLA1 PRKACB PSMB8 PTEN PTH1R RAD51 RAD51C RASGRP1 RFWD3 RHBDF2 RNF113A RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SCNN1A SCNN1B SCNN1G SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC5A6 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCAD1 SPAG1 SPEF2 STK11 STK36 STN1 TARS1 TCF4 TERC TERT TGFB1 TLL1 TTC12 UBE2A UBE2T VPS33A VPS51 XRCC2 ZMYND10 HP_CLUBBING_OF_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_FINGERS ABCA3 ATP11A BMPR1A CD55 CFTR DPP9 DSP EIF2AK4 FAM13A FCGR2A GJB6 HNRNPH1 HPGD HSPG2 IL21 INTU JAG1 LRBA MUC5B NCKAP1L NLRP3 PARN PSMB8 PTEN PTH1R RASGRP1 RTEL1 SFTPA1 SFTPA2 SFTPC SLC34A2 SLC5A6 SLCO2A1 STK11 STN1 TERC TERT TGFB1 TLL1 HP_CLUBBING_OF_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_TOES BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HNRNPH1 HPGD MAD2L2 PALB2 PIGL RAD51 RAD51C RFWD3 RHBDF2 SLCO2A1 SLX4 SMARCA2 TLL1 UBE2A UBE2T XRCC2 HP_CLUMSINESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUMSINESS AASS ACOX1 ACTA1 AFF2 ALG13 ARSA ASAH1 ATP2B3 ATP7B ATXN3 BSND CAPN3 CAV3 CHD8 CLCNKA CLCNKB CLN5 CLN8 CLTC CPLX1 CWF19L1 DARS2 DCC DEAF1 DNAL4 FRRS1L GALC GALT GJB1 GRIN2A HAX1 HEPACAM HNRNPA1 HTT KBTBD13 KCNA1 KCNC3 KDM4B KLHL41 MAN2B1 MAPT MECR MICU1 MORC2 MPZ MYPN NEB NKX2-1 NR4A2 NTN1 PAK3 PANK2 PLA2G6 PMP22 POLR3A PRNP PSAP RAD51 RNF125 RNF168 SCO2 SDHA SLC22A5 SLC2A3 SLC39A14 SLC52A2 SLC52A3 SNRPN SQSTM1 SYNE1 TBC1D24 TIA1 TPM2 TPM3 TPP1 TSHB TTN TTPA TWNK UBE3A HP_CNS_DEMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_DEMYELINATION ABCD1 ACOX1 ADAT3 ALDH3A2 ASPA ATXN2 CSF1R CYP27A1 EIF2B1 ERCC1 ERCC6 ERCC8 GALC GFAP GLS HLA-DQB1 HLA-DRB1 HTRA1 INSR L2HGDH LRPPRC MAT1A MMACHC MTTP NDUFAF4 PDCD1 PDYN PEX19 PIGG PPFIBP1 PPP1R15B PRF1 PRPS1 PSAP PYCR2 RERE SUMF1 TNR TREM2 TREX1 TRMT10A HP_CNS_HYPOMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_HYPOMYELINATION AARS1 ACBD5 ADSL AHCY ALG2 ALS2 ATP6V1A BCAP31 C2CD3 C2orf69 CHKA CLDN11 CNTNAP1 CYB5A CYB5R3 DALRD3 DARS1 DDOST DPAGT1 DYRK1A EIF2B1 ELOVL1 EPRS1 EXOC2 EXOSC5 FUCA1 FUS GABRA2 GABRA5 GAN GDAP1 GJC2 GLUL GRIK2 GRM7 HEXB HYCC1 INTU LEMD2 MED27 MTHFS NARS2 NKX6-2 NMNAT1 PARS2 PEX13 PGAP2 PGAP3 PHGDH PI4KA PIGL PIGO PIGV PIGW PIGY PLP1 POLR1C POLR3A POLR3B PRKDC PURA PYCR2 QARS1 RARS1 RMND1 RNF220 SIGMAR1 SLC1A4 SLC25A12 SLC33A1 SMPD4 SNIP1 SOX10 SPATA5 SPG11 SPTAN1 SPTLC1 STAMBP STXBP1 TBCD TIAM1 TMTC3 TRAPPC11 TTC26 TUBB4A VPS11 WDR26 YIF1B HP_COARCTATION_OF_AORTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARCTATION_OF_AORTA ABCD4 ABL1 ADA2 ADK ALDH18A1 ALG3 AMER1 ATN1 BRAF BUB1 BUB1B BUB3 CDH2 CDK8 CDON CEP57 CHD4 CIROP CPLANE1 CREBBP CTCF DDX3X DHCR7 DISP1 DLL1 DOHH DYNC2LI1 EGFR EHMT1 ELN EP300 FANCB FBLN5 FGF8 FGFR1 FLI1 FOXF1 FOXH1 GAS1 GATA1 GATA5 GATA6 GDF1 GJA5 GJA8 GLI2 GLI3 HEATR3 HRAS JAG1 KDM6A KMT2D KRAS LRPPRC LZTR1 MAP2K1 MCTP2 MED12 MEIS2 MID1 MKS1 MMP14 MMP2 MYH7 NAE1 NF1 NIPA1 NIPA2 NKX2-5 NKX2-6 NODAL NOTCH1 NR2F2 NRAS OSGEP PAH PGM1 PPP1CB PTCH1 PTH1R PTPN11 PUF60 RBM8A RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SF3B2 SHH SIX3 SMAD4 SMAD6 SMARCA2 SOS2 SRCAP SRY STAG2 STIL STRA6 SUCLG1 SUPT16H TALDO1 TBX1 TBX20 TDGF1 TELO2 TGDS TGIF1 TRAF7 TRIP13 TRRAP TSR2 TUBG1 UBE3B UNC45B WAC WDPCP WT1 ZEB2 ZIC2 ZIC3 ZNF148 HP_COARSE_FACIAL_FEATURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_FACIAL_FEATURES AARS1 ABCA5 ABCC9 ACER3 ACTB ACTG1 ADNP AFF4 AGA AIFM1 AIMP1 AIP ALG13 ALG14 ANTXR2 AP1S2 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARID1A ARID1B ARID2 ARSB ARSK ARX ATP6V1B2 ATRX BAP1 BAZ1B BCL7B BCORL1 BRAF BRCA1 BSCL2 BUD23 CARS1 CCDC47 CDKN1C CEP120 CHD4 CLCN4 CLIC2 CLIP2 CNP CNTNAP2 COL2A1 COQ4 CTSA CUL4B DENND5A DNAJC30 DNMT3A DPF2 DYM EHMT1 EIF4H ELN ERCC2 ERCC3 EXT2 EXTL3 FAR1 FBXO31 FHL1 FKBP6 FLNA FMR1 FOXE1 FTO FUCA1 GALNS GJA1 GLA GLB1 GNE GNPTAB GNPTG GNS GPC3 GPC4 GPR101 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C5 HDAC4 HEXB HGSNAT HNRNPK HPGD HRAS HS2ST1 IDS IDUA IGF2 INSR KAT6B KCNH1 KCNJ8 KCNN3 KCNQ1 KCNQ1OT1 KDM6B KIF15 KLHL15 KRAS L1CAM LAMTOR2 LIMK1 LTBP1 LYSET MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MBD5 MCOLN1 MCTP2 MED12 MEN1 METTL27 MLXIPL MMP14 MMP2 MPL MPLKIP MRPS34 MYSM1 NAA10 NAGA NAGLU NANS NCF1 NEU1 NF1 NKX2-1 NKX2-5 NMNAT1 NOTCH2 NRCAM NSD1 OTUD5 P4HTM PACS2 PAX8 PDE4D PGAP2 PGAP3 PHF6 PIGA PIGB PIGF PIGL PIGN PIGO PIGQ PIGS PIGV PIGW PIGY PIK3C2A PLAA PPP1R21 PPP3CA PTCH1 PUS3 RAB33B RBMX RFC2 RIN2 RNF113A RPS6KA3 SETBP1 SETD2 SGSH SH3PXD2B SLC17A5 SLC26A4 SLC35A2 SLC35C1 SLCO2A1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNX14 SOST SOX11 SOX4 SP7 SPEN SPRED2 SPTBN1 STAT3 STX1A SUMF1 SVBP TARS1 TBC1D24 TBC1D2B TBC1D7 TBCK TBL2 TCF4 TFE3 THPO THSD1 TMEM147 TMEM270 TMEM53 TNPO2 TSHR VPS11 VPS33A VPS37D WAC WDR26 WDR81 XYLT1 ZNF148 ZNF699 ZSWIM6 HP_COARSE_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_HAIR AFF4 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BCS1L C18orf32 CBL CCDC47 CERT1 EBP EPS8L3 ERCC3 FLNA GNS GON7 GUSB HEATR3 HGSNAT HR IKBKG KRAS KRT74 LPAR6 LZTR1 MRAS NAGLU NECTIN4 NOTCH2 NOTCH3 NRAS OFD1 PADI3 PLOD3 PPP1CB PTEN PTPN11 RAF1 RASA2 RIT1 RPS6KA3 RRAS RRAS2 SEC23A SGSH SLC25A24 SMARCAL1 SOS1 SOS2 SPRED2 SREBF1 SUMF1 TGM3 TMCO1 TP63 VPS33A HP_COCHLEAR_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COCHLEAR_MALFORMATION COL4A6 EYA1 FOXI1 HAAO KCNJ10 ORC1 PI4KB SIX1 SLC26A4 SRCAP HP_COGNITIVE_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGNITIVE_IMPAIRMENT AARS1 AARS2 AASS ABCA12 ABCA5 ABCA7 ABCD1 ACSF3 ACTB ACTL6B ADA2 ADAMTSL4 ADD3 ADGRV1 ADH1C AFG3L2 AGK AIFM1 AKT1 ALDH18A1 ALG13 ALMS1 ALOX12B ALOXE3 ALS2 AMACR ANXA11 AP3B2 AP5Z1 APOE APOL2 APOL4 APP APTX ARL6IP6 ARMC5 ARSA ARV1 ASAH1 ASPRV1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATR ATRIP ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH B3GALNT2 BAP1 BBS12 BBS5 BDNF BMPR1A BRAF BSCL2 C19orf12 C4A C9orf72 CABP4 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMTA1 CARS2 CCM2 CCNF CCR1 CDH23 CDK19 CELF2 CENPE CENPJ CEP152 CERS1 CFAP43 CFH CFHR1 CFHR3 CHCHD10 CHCHD2 CHD2 CHI3L1 CHMP2B CHRM3 CHRNA2 CHRNA4 CHRNB2 CHRNG CISD2 CLCF1 CLMP CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNTNAP2 COA3 COASY COG2 COL3A1 COL4A1 COMT COQ2 COX6B1 CP CPT1C CREBBP CRH CRLF1 CRPPA CSF1R CST3 CSTB CTC1 CTDP1 CTNS CTSD CTSF CTSH CUBN CUX2 CYC1 CYFIP2 CYLD CYP27A1 CYP2U1 CYP4F22 CYP7B1 DALRD3 DAOA DARS2 DCAF17 DCC DCTN1 DCX DDB2 DEPDC5 DGUOK DHDDS DLAT DMD DMPK DNA2 DNAJC13 DNAJC3 DNAJC5 DNAJC6 DNM1 DNM1L DNMT1 DRD3 DSG4 DZIP1L ECM1 EDN3 EEF1A2 EIF2B1 EIF2B2 EIF2B5 EIF4G1 EP300 EPCAM EPM2A ERAP1 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FA2H FAN1 FAR1 FAS FBN1 FBXO28 FBXO7 FGD1 FGF12 FGF13 FGF14 FGFR3 FKRP FKTN FLNA FMR1 FRRS1L FTL FUCA1 FUS FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALK1 GALT GBA1 GBA2 GBE1 GCDH GCH1 GDAP2 GDF3 GDF5 GDF6 GDNF GIGYF2 GJB2 GJC2 GLA GLB1 GLRX5 GLUD2 GM2A GMPPB GNA11 GNAS GNE GNPTAB GON7 GOSR2 GPC4 GRID2 GRIN2A GRIN2D GRN GSN GTPBP3 HCN1 HCRT HEPACAM HEXA HEXB HGSNAT HIBCH HLA-B HLA-DQB1 HLA-DRB1 HMBS HNF4A HNRNPA1 HNRNPA2B1 HSD17B10 HTR2A HTRA1 HTRA2 HTT IBA57 IDS IDUA IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL23R IRAK1 IRF6 ITM2B ITPR1 JAM2 JPH3 KARS1 KCNA2 KCNB1 KCNC1 KCNC3 KCND3 KCNQ2 KCNQ3 KCNT1 KCTD7 KIF1C KIF5A KLLN KLRC4 KMT2A KMT2B KRAS KRIT1 KRT81 KRT83 KRT86 L1CAM LAGE3 LAMA1 LAMA2 LAMP2 LARGE1 LARS2 LBX1 LIG3 LIPN LMNB1 LRPPRC LRRK2 LTBP4 LYST LZTFL1 MAG MAGEL2 MAOA MAPK10 MAPT MARS2 MATR3 MBTPS2 MCOLN1 MECP2 MEFV MEN1 MEOX1 MFN2 MFSD8 MICOS13 MLH1 MLH3 MMACHC MME MOG MPO MSH2 MSH6 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFR MTOR MTRFR MYD88 MYH3 MYO1H MYORG NAGA NAGLU NAGS NBN NDP NDUFA1 NDUFA6 NECAP1 NEFL NF1 NF2 NFIA NHLRC1 NIPA1 NIPA2 NIPAL4 NKX2-1 NKX6-2 NOS3 NOTCH2NLC NOTCH3 NPC1 NPC2 NPRL2 NPRL3 NPTX1 NR3C1 NR4A2 NRAS NTRK2 NUP107 NUP133 NUP85 NUS1 OCRL OPA1 OPA3 OSGEP P2RY11 PACS2 PAH PANK2 PARK7 PARS2 PCDH19 PCNT PDCD10 PDE10A PDE11A PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PI4KA PIDD1 PIGA PIK3CA PINK1 PKHD1 PLA2G6 PLAA PLAU PLCB1 PLEKHG4 PLK4 PLP1 PMPCA PMS1 PMS2 PNKP PNPLA6 PNPT1 PODXL POLG POLG2 POLR3K POMGNT1 POMT1 POMT2 PORCN POU4F1 PPP2R2B PPP3CA PPT1 PRDM8 PRDX1 PRICKLE1 PRKAR1A PRKAR1B PRKCG PRKN PRKRA PRNP PRORP PRRT2 PSAP PSEN1 PSEN2 PTEN PTPN22 PTS QDPR RAB27A RAB39B RBBP8 RBM12 RBM28 REEP2 RIN2 RMRP RNASEH1 RNF216 RNU4ATAC ROBO3 ROGDI RPS20 RRM2B RTN4R SAMD9L SAT1 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SDR9C7 SEC23B SEMA4A SERPINI1 SGPL1 SIGMAR1 SIM1 SKIC3 SLC12A5 SLC13A3 SLC13A5 SLC18A2 SLC1A2 SLC1A3 SLC20A2 SLC25A13 SLC25A15 SLC25A22 SLC25A4 SLC2A1 SLC2A3 SLC37A4 SLC38A3 SLC39A14 SLC44A1 SLC7A6OS SLC7A7 SMARCB1 SMARCE1 SMC1A SMC3 SMO SMPD1 SNCA SNCAIP SNCB SNORD118 SORL1 SOST SPART SPAST SPG11 SPG21 SPG7 SPP1 SPR SPRED1 SPTBN1 SPTBN2 SPTLC1 SQSTM1 STARD7 STAT4 STUB1 STX1B SUFU SULT2B1 SUMF1 SYN2 SYNGAP1 SYNJ1 SZT2 TARDBP TBC1D24 TBCK TBK1 TBP TERT TGFBR2 TGM1 TIA1 TIMM8A TIMMDC1 TINF2 TK2 TLR3 TLR4 TMEM106B TMEM240 TNFSF4 TOMM40 TP53 TP53RK TPRKB TRAF7 TRAIP TRAK1 TRANK1 TREM2 TREX1 TRPM7 TSC1 TSC2 TSFM TTC19 TTPA TTR TUBA4A TUBB2B TUBB4A TUBG1 TWNK TYMP TYROBP UBA1 UBA5 UBAC2 UBAP1 UBQLN2 UBTF UCHL1 UGT1A1 USF3 USP48 USP8 VAMP1 VAPB VCP VPS13A VPS13C VPS35 VPS37A WDR4 WDR45 WDR73 WFS1 WWOX XPA XPC XPR1 XRCC4 YRDC YWHAG YY1 ZFYVE26 ZNF365 HP_COGWHEEL_RIGIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGWHEEL_RIGIDITY ADAR ATP6AP2 CP DAB1 FRRS1L GABRA1 GABRG2 GCH1 KCNA4 KCND3 KCNN2 MME MT-ATP6 NUP54 NUP62 PCDH19 POLG POLG2 RAB39B RRM2B SCN1A SCN1B SCN2A SCN9A SLC19A3 SLC25A4 SLC6A3 TK2 TMEM240 TWNK HP_COILED_SPERM_FLAGELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COILED_SPERM_FLAGELLA AK7 AKAP3 ARMC2 CATIP CFAP251 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP69 CFAP74 CFAP91 DNAH1 DNAH10 DNAH17 DNAH2 DNAH7 DNAH8 DNHD1 DRC1 FSIP2 KCNU1 QRICH2 SPEF2 SSX1 TTC21A TTC29 USP26 WDR19 HP_COLD_INDUCED_MUSCLE_CRAMPS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLD_INDUCED_MUSCLE_CRAMPS BSCL2 CHCHD10 CPT2 GARS1 MPZ PMP22 REEP1 HP_COLITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLITIS ACADVL BACH2 BCL10 CARD11 CARD8 CARMIL2 CASP10 CIITA CYBC1 DCLRE1B DEF6 DOCK2 ELANE ELF4 FAS FASLG FCHO1 FCN3 FERMT1 FH FOXP3 GPIHBP1 GPR35 HPS1 IL10RA IL10RB IL37 IL6 INAVA IVNS1ABP LRBA MAP3K7 MASP2 MST1 MYH11 NCF4 NLRC4 NOD2 OPLAH PIGY PIK3CD PIK3CG PLCG2 POLA1 PRF1 PRKCD PSTPIP1 RASGRP1 RET RFX5 RFXANK RFXAP RTEL1 SEMA4D SKIC2 SKIC3 SLC37A4 STAT1 STX11 STXBP2 SYK TCF4 TGFB1 TNFAIP3 TOM1 TTC7A UNC13D WAS XIAP ZAP70 HP_COLLECTIONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLLECTIONISM CHMP2B GRN HTR2A MAPT PSEN1 SLC6A4 SQSTM1 TMEM106B TREM2 VCP HP_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOBOMA AAAS ABCB6 ACTB ACTG1 ADNP AHI1 AKT1 ALDH1A3 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ASXL1 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BMP4 C12orf57 C2CD3 CAPN15 CASK CBY1 CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 CLDN19 COL4A1 COX7B CPLANE1 CPLX1 CRB1 CREBBP CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DDX11 DDX59 DHCR7 DHX38 DISP1 DLL1 DPYD DPYSL5 DYRK1A EIF3F ELP4 EP300 EPCAM ERF ESCO2 FBXW11 FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FIBP FKRP FKTN FLI1 FLNA FOXE3 FOXH1 GAS1 GDF3 GDF6 GJA8 GLI2 GMPPA GMPPB GNAQ GZF1 HCCS HHAT HMGB3 HMX1 HNRNPK HRAS HYLS1 IFT74 IGBP1 INPP5E INTS1 KATNIP KCTD1 KDM6A KIAA0586 KIAA0753 KIF7 KIFBP KMT2D KRAS LARGE1 LCA5 LETM1 LRAT LRP2 MAB21L2 MAF MAFB MAN2C1 MBTPS2 MED12L MED13L MIR204 MITF MKS1 MMACHC MMP14 MMP2 MPDZ NAA10 NDUFB11 NELFA NIPBL NMNAT1 NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 OFD1 OTX2 PACS1 PAX2 PAX6 PCYT1A PDE6D PERCC1 PIBF1 PIGG PIGL PLVAP PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRMT7 PRPS1 PRR12 PTCH1 PTCH2 PTEN PUF60 PXDN RAB18 RAB3GAP1 RAB3GAP2 RB1 RBP4 RERE ROR1 RPE65 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SATB2 SEMA3E SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SPATA7 SPECC1L SPINT2 SPTBN1 SRD5A3 SUFU TBC1D20 TBC1D23 TBR1 TBX22 TCEAL1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRAPPC11 TRIM37 TRRAP TTC26 VPS13B VPS35L VSX2 WAC WASHC5 WDR37 WNT3 YAP1 ZEB2 ZIC2 ZMIZ1 ZNF423 ZNF668 HP_COLON_CANCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLON_CANCER APC AXIN2 BMPR1A BRCA1 BRCA2 BUB1 BUB1B BUB3 C1S CDKN2A CEP57 CHEK2 EPCAM FAN1 FLCN FOXE1 GREM1 HABP2 KRAS MBD4 MDM2 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NTHL1 PALB2 PALLD PIK3CA PMS1 PMS2 RABL3 RPS19 SH3KBP1 SMAD4 SMAD7 TGFBR2 TP53 TRIP13 HP_COLORECTAL_POLYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLORECTAL_POLYPOSIS AKT1 APC AXIN2 BMPR1A CDKN2A CHEK2 DICER1 GREM1 KEAP1 KLLN MDM2 MSH3 MUTYH PIK3CA POLD1 POLE PTEN RNF43 SDHB SDHC SDHD SEC23B TP53 USF3 HP_COLOR_VISION_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_DEFECT ABCA4 ACO2 ADAM9 AFG3L2 AIPL1 ALDH3A2 ANOS1 ATF6 BEST1 C1QTNF5 CABP4 CACNA1F CACNA2D4 CCDC141 CDHR1 CEP78 CFAP410 CFAP418 CHD7 CNGA3 CNGB3 CNNM4 CRX CYP4V2 DCC DNAJC6 DNM1L DRAM2 DUSP6 ELOVL4 FA2H FEZF1 FGF14 FGF17 FGF8 FGFR1 FLRT3 GNAT1 GNAT2 GNB3 GPR179 GRK1 GRM6 GUCA1A GUCY2D HESX1 HGSNAT HS6ST1 HTRA2 IL17RD IMPG1 IMPG2 LCA5 LRAT LRIT3 LRRK2 MFN2 MFSD8 MORC2 MTRFR MTTP NBAS NDNF NMNAT1 NR2E3 NYX OFD1 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PARK7 PDE6B PDE6C PDE6H PDXK PINK1 PITPNM3 POC1B PODXL POLG PRKN PROK2 PROKR2 PROM1 PRPH2 RAB28 RAX2 RBP4 RGS9 RHO RIMS1 RLBP1 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SEMA3A SEMA4A SLC24A1 SNCA SOX10 SPATA7 SPRY4 SYNJ1 TACR3 TIMM8A TK2 TLCD3B TMEM126A TRPM1 TTLL5 TULP1 UCHL1 UNC119 VPS13C WDR11 HP_COLOR_VISION_TEST_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_TEST_ABNORMALITY AFG3L2 ATF6 CNGA3 CNGB3 FA2H GNAT2 OPN1SW PDE6C PDE6H RPGR HP_COLPOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLPOCEPHALY ANKRD11 ARSI COX7B CSPP1 DHCR7 DHX37 DNM1 ERMARD FANCI FRA10AC1 HCCS HNRNPH1 KAT6B KDM1A KIAA0586 KIF26A MPDZ NADK2 NCAPG2 NDE1 NDUFB11 NRCAM PEX10 PEX2 PLXNA1 PPP1R12A RNU4ATAC SEC31A STAG2 TUBA8 ZNF148 ZNF462 HP_COMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMA ABCC8 ACADM ACAT1 AKT2 ALDOB APP ASL ASS1 ATP1A2 ATP7B AUH BCKDHA BCKDHB BRAF CACNA1A CDKN1A CDKN1B CDKN2B CDKN2C CFH CFHR1 CFHR3 CPS1 CPT1A CPT2 CTNNB1 CYC1 DBT EIF2B5 ETFA ETFB ETFDH FBP1 GCK GK GLUD1 HADH HADHA HADHB HLCS HMBS HMGCL HMGCS2 HNF1A HNF4A IL18BP INS INSR IVD KCNJ11 KYNU LYRM7 MC2R MCCC1 MCCC2 MEN1 MMAA MMAB MMUT MRAP NAGS NAXE NDUFA2 NDUFS4 NFKB2 NNT OTC PCCA PCCB PDX1 POLG POLR3K PPOX PRF1 PRRT2 RANBP2 SCN1A SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC7A7 SOX10 SQOR STAR STAT3 STX11 STXBP2 TBK1 TICAM1 TLR3 TRAF3 TTC19 TXNRD2 UCP2 UNC13D UNC93B1 YY1 HP_COMBINED_IMMUNODEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMBINED_IMMUNODEFICIENCY ACP5 ADA AK2 BCL11B BUB1B CD19 CD3D CHD7 CR2 DCLRE1C DOCK2 EXTL3 ICOS IKZF1 IL2RG IL7R IRF2BP2 JAK3 KNSTRN LIG4 MGAT2 MS4A1 MTHFD1 NFKB1 NFKB2 PGM3 PI4KA PIK3CD PNP PRKDC RAG1 RAG2 RMRP TNFRSF13B TNFRSF13C TTC7A XRCC4 HP_COMMON_ATRIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMON_ATRIUM ACVR2B CFAP53 CIROP EVC EVC2 GDF1 MMP21 PRKACB TTC26 WT1 ZIC3 HP_COMMUNICATING_HYDROCEPHALUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMUNICATING_HYDROCEPHALUS B4GAT1 CDC42BPB CDCA7 CRTAP DNAI1 DNMT3B FBN1 GCDH HELLS HERC1 MAN2B1 MPDZ P4HB PTEN SEC24D SKI SLC2A1 TRIM71 TRNT1 TRPV6 ZBTB24 HP_COMPENSATED_HYPOTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATED_HYPOTHYROIDISM FOXI1 KCNJ10 NKX2-1 SLC26A4 TANGO2 TG THRB TREX1 TSHR HP_COMPENSATORY_HEAD_POSTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATORY_HEAD_POSTURE CABP4 CACNA1F CACNA2D4 COL25A1 GNAT1 GNB3 GPR179 GRK1 GRM6 KIF21A LRIT3 NYX PDE6B PHOX2A RHO SAG SLC24A1 TRPM1 TUBA1A TUBB2B TUBB3 ZFHX4 HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT ACVR2B CDC45 CIROP GATA1 GATA6 GDF1 HYLS1 INTU IRX5 NKX2-5 NKX2-6 PRKACA PTPN11 PUF60 TBX1 TRIO WDPCP ZIC3 HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND BCOR BMPR1B CHSY1 ESCO2 FANCA FANCC FANCD2 FANCE GDF5 LEMD3 LMBR1 NAA10 RAB23 SHMT2 HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE AICDA ALG12 ARHGEF1 CD247 CD81 CORO1A MALT1 TNFRSF9 HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE CASP8 CORO1A HYOU1 IKBKG TNFRSF13C HP_COMPLEX_FEBRILE_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLEX_FEBRILE_SEIZURE ADORA2A ATP1A2 CACNA1A COG4 FAR1 GABRA1 GABRG2 PCDH19 PDE2A PRRT2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC25A12 HP_COMPULSIVE_BEHAVIORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPULSIVE_BEHAVIORS ADCY5 ADGRV1 ADNP AFF2 AP1G1 ARID1B ARID2 ASH1L AUTS2 BAZ1B BCL7B BCR BRD4 BUD23 CARS1 CEP152 CHD5 CHD7 CHMP2B CLCN3 CLCN4 CLIP2 CLN5 COASY CREBBP CRKL DMPK DNAJC30 DPF2 DRD2 EHMT1 EIF4H ELN EMC10 EP300 FKBP6 FMO3 FMR1 FOXP1 GABRA1 GABRD GABRG2 GATAD2B GCH1 GNB1 GRIA1 GRIA2 GRN GTF2I GTF2IRD1 GTF2IRD2 HCN1 HDAC4 HDAC8 HDC HNRNPH2 HTR2A HTT IMPDH2 JARID2 KCNN2 KCTD17 KDM4B KMT5B LIMK1 MAGEL2 MAP1B MAPK1 MAPK8IP3 MAPT MED12 METTL27 MLXIPL NCF1 NDN NFIA NIPBL NKX2-1 NLGN1 NR2F1 NR4A2 OCA2 OCRL PAH PANK2 PCDH19 PDGFB PDZD8 PITRM1 POGZ PPM1D PSEN1 PTCHD1 PUF60 RAD21 RFC2 SCN1A SCN1B SCN2A SCN8A SCN9A SEMA3E SETD5 SGCE SIN3A SIN3B SLC2A3 SLC35C1 SLC45A1 SLC6A4 SLITRK1 SLITRK2 SMC1A SMC3 SNRPN SPTBN1 SQSTM1 SRCAP STX1A STX1B SYNGAP1 TBL2 TBX1 TCF20 TIAM1 TKT TLK2 TMEM106B TMEM270 TOR1A TREM2 TRIO TRRAP TTC19 UBE2A UBE3A USP7 USP9X VCP VPS13A VPS16 VPS37D XK YWHAG ZBTB20 ZSWIM6 HP_CONCAVE_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NAIL AARS1 CARS1 EDA ERCC2 ERCC3 GTF2E2 GTF2H5 HOXC13 HRAS KRT1 LMX1B MPLKIP MSX1 PLCD1 RLIM RNF113A TARS1 TRPS1 HP_CONCAVE_NASAL_RIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NASAL_RIDGE ATP6V1E1 CANT1 DDR2 DMXL2 EBP EXOSC2 FBXL4 FOXC1 HSPG2 IGF1 IL2RA JAG1 KDF1 NFKBIA PEPD POU1F1 RECQL4 SHANK3 SLC37A4 SOST STAT5B ZEB2 HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY ALPK3 CLN3 DES FHOD3 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NDUFS4 TNNC1 TSFM HP_CONE_CONE_ROD_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_CONE_ROD_DYSTROPHY ABCA4 ADAM9 AIPL1 ALMS1 ALPK1 ATXN7 CACNA1F CACNA2D4 CFAP410 CFAP418 CNNM4 CRX GUCA1A GUCY2D HMX1 IFT27 KCNV2 LZTFL1 NGLY1 PCYT1A PDE6C PDE6H PIBF1 PITPNM3 POC1B PROM1 RAB28 RAX2 RPGRIP1 SLC19A2 TTLL5 UNC119 HP_CONE_SHAPED_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_SHAPED_EPIPHYSIS AIFM1 ATR ATRIP BGN BMPR1B CDC42BPB CENPE CENPJ CEP120 CEP152 CEP164 CEP290 COG4 COL2A1 COMP CSPP1 DNA2 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EIF2AK3 EVC EVC2 EXT1 FBN1 FGF9 FGFR3 FLNA GDF5 GPX4 IFT140 IFT172 IFT52 IFT80 IHH INVS IQCB1 KIAA0586 KIAA0753 KIF15 KNSTRN MAP3K7 MIA3 MIR140 MRPS28 NEK1 NOG NPHP1 NPHP3 NPHP4 NPR2 NSMCE2 NUP85 OFD1 PCNT PDE3A PDE4D PIK3CD PLK4 POC1A PRKAR1A RAD21 RBBP8 RMRP RSPRY1 RUNX2 SDCCAG8 SHOX SMAD4 SRCAP TBC1D2B TRAF3IP1 TRAIP TRIP11 TRPS1 TRPV4 TTC21B WDR19 ZMIZ1 HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES CDKN1A CDKN1B CDKN2B CDKN2C IFNG MEN1 NONO TSC1 TSC2 HP_CONFUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSION ABCA7 ABCD1 ADAMTS13 ALAD ALDH4A1 APP ATP13A2 ATP1A2 C4A CACNA1A CCR1 CDKN1A CDKN1B CDKN2B CDKN2C CHRNA2 CPOX CTSF CUBN DNMT1 EPM2A ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 FAS FIG4 GNAS HADH HLA-B HLA-DQB1 HMBS IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 MAN2B1 MEFV MEN1 MMACHC MT-TE NAGS NHLRC1 NOTCH3 POLR3A PRDM8 PRDX1 PRNP PRRT2 PSEN1 PSEN2 RYR1 SCN1A SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC2A1 SORL1 STAT4 TBK1 TBP TLR3 TLR4 TOMM40 TRANK1 TREM2 TTR UBAC2 UQCRH HP_CONFUSIONAL_AROUSAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSIONAL_AROUSAL CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 KCNT1 MAGEL2 SIM1 HP_CONGENITAL_ABNORMAL_HAIR_PATTERN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ABNORMAL_HAIR_PATTERN ABCC9 ACTB ACTG1 ADA2 ADARB1 ADNP AEBP1 AGPAT2 AIFM1 ALDOA ALG11 ALG12 ALG9 ALX1 ALX3 ANKRD11 ANKRD17 APC APC2 ARHGEF2 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 B3GAT3 BICRA BRAF BRCA1 BRD4 BSCL2 CAMK2A CAMTA1 CAV1 CAVIN1 CBL CCDC22 CCNK CDC42BPB CDH1 CDH2 CDK13 CDK5 CHN1 CHRNG CHST3 CIT CLCN3 CNOT3 COG5 COG7 CPLX1 CPOX CREBBP CTBP1 CWC27 DEAF1 DHX30 DLX4 DOCK6 DOCK7 DPF2 DPH2 DPM2 EDEM3 EFNB1 EMC1 EP300 ERMARD FAT4 FGD1 FGFR2 FGFR3 FGFRL1 FKRP FLNA FOS FOXP1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 GATA1 GDF11 GDF3 GDF6 GMPPA GNB2 GNE H1-4 H3-3A H4C5 HDAC4 HDAC8 HEATR3 HERC2 HNF1B HRAS HS2ST1 HSPG2 HUWE1 HYOU1 IFIH1 IFT140 IGF1 INSR INTU IRX5 JARID2 KCNH1 KCNJ8 KCNN3 KDM1A KDM4B KMT2A KNSTRN KRAS KREMEN1 KRT85 LETM1 LIG4 LMNA LMX1B LRP2 LRPPRC LZTR1 MAB21L1 MADD MAFB MAGEL2 MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBD5 MED12 MED13L MED27 MEGF8 MEIS2 MEOX1 MID1 MKRN3 MRAS MYH3 MYO18B NANS NBN NELFA NEPRO NF1 NFIX NIPBL NOTCH2 NOTCH3 NOVA2 NPAP1 NRAS NSD1 NSD2 NSUN2 NUDT2 OGT PACS1 PEPD PEX1 PEX19 PEX6 PGAP1 PHF8 PIGG PIGK PIK3C2A PIK3CD POLA1 POLR1B POLR1C POLR1D PPARG PPP1CB PPP1R15B PPP2R1A PPP2R3C PRDM13 PRKD1 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RALGAPA1 RASA2 RBL2 RERE RHOBTB2 RIT1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 SALL4 SATB1 SCNM1 SETD2 SETD5 SH2B1 SHOC2 SIN3A SLC12A6 SLC25A24 SLC35C1 SLC9A7 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMPD4 SNORD115-1 SNORD116-1 SOS1 SOS2 SOX11 SOX4 SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP SRY STAG2 STAMBP STT3A SVBP SYT1 TAF6 TBC1D20 TBC1D24 TBL1XR1 TBX15 TBX2 TCF12 TCF4 TCOF1 TECPR2 TFAP2A THOC6 TMCO1 TRAF7 TRIO TRMT10A TRPM3 TSC1 TSR2 TTC5 TWIST1 TWIST2 UBE2A UBR1 UGP2 USB1 VPS13B VPS33A VPS51 WASHC5 WBP11 WNT4 WRN XRCC4 XYLT2 YY1 ZC4H2 ZIC1 ZNF699 HP_CONGENITAL_ADRENAL_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ADRENAL_HYPERPLASIA CYP11B1 CYP17A1 HSD3B2 POR STAR HP_CONGENITAL_BILATERAL_HIP_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION CLTCL1 COL12A1 COL1A1 FBLN1 PLOD1 SHROOM4 TELO2 HP_CONGENITAL_BLINDNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BLINDNESS ATIC CEP290 LRAT LRP5 NSMCE2 RD3 SARDH XRCC4 HP_CONGENITAL_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_CONTRACTURE ABCC8 ACADM ACTA1 ADAT3 ADCY6 ADGRG1 ADGRG6 AGRN AGTPBP1 ALG14 ALG3 ASCC1 ASXL1 ATAD1 AUTS2 BICD2 BLTP1 CACNA1E CAPN3 CCDC47 CDK5 CEP55 CFL2 CHAT CHMP1A CHRNA1 CHRNE CHRNG CHST14 CLCN3 CNTNAP1 COL12A1 COL13A1 DHCR24 DNM2 DOK7 DPM2 DSE ERBB3 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 EXOC7 EXOSC3 EXOSC8 EXOSC9 FAM20C FBN2 FIG4 FKBP10 FKRP FKTN GBA1 GBE1 GCK GFM2 GFPT1 GLDN GLE1 GLI3 GNB2 GNPTAB HSPG2 IBA57 INS ITGB4 KAT6B KBTBD13 KCNJ11 KCNK9 KIDINS220 KIF14 KIF1A KIF21A KIF26A KIF5C KLHL40 KLHL41 LAMA5 LARGE1 LGI4 LMNA LMOD3 LZTR1 MAGEL2 MED13L MORC2 MTRFR MUSK MYBPC1 MYH2 MYH3 MYH8 MYO9A MYOD1 MYPN NALCN NEB NEK9 NRCAM NUP88 OTUD5 PAX7 PDX1 PI4KA PIEZO2 PIGS PIP5K1C PLEC PLOD2 PLXND1 POMT1 POMT2 PPP3CA PRG4 RAPSN REEP1 REV3L RFT1 RIPK4 RYR3 SCN4A SCYL2 SHPK SLC18A3 SLC25A1 SLC25A46 SLC35A3 SLC5A7 SLC6A9 SLC9A6 SMPD4 SNAP25 SOX10 SRPX2 STAC3 STAT3 SYNE1 SYT2 TBCD TBX4 TGFB3 TNNI2 TOR1A TPM2 TPM3 TRIP13 TRIP4 TRPV4 TSEN54 TUBA1A UBA1 VAMP1 VIPAS39 VPS33B VRK1 YY1 ZBTB42 ZC4H2 ZMPSTE24 ZNF335 ZNHIT3 HP_CONGENITAL_DIAPHRAGMATIC_HERNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA ABL1 ADAT3 ALDH1A2 ALG9 ANAPC7 AR ARID1B B3GAT3 BRD4 CD96 CDC42BPB CHRNG CHST3 CHUK COX7B CPLX1 CTBP1 DACT1 DHCR7 DIS3L2 DLL3 EFEMP2 EFNB1 FBLN5 FLNA GATA4 GATA6 GLI3 GPC3 GPC4 HCCS HDAC4 HDAC8 HES7 HOXD13 KCNA1 KDM3B KDM6A KIAA0586 KIF7 KMT2D LETM1 LFNG LONP1 LRP2 LTBP4 MAF MAFB MAMLD1 MAP3K7 MCTP2 MESP2 MID1 MN1 MTHFR MYRF NDUFAF5 NDUFB11 NELFA NIPBL NR2F2 NSD2 NUAK2 PBX1 PCNA PIGG PIGN POGZ PORCN PPM1D RAD21 RARB RIPPLY2 RLIM RPS26 RPS28 RSPO2 SEC31A SF3B4 SH2B1 SIN3A SLC2A10 SMARCB1 SMC1A SMC3 STAG2 STRA6 TRAIP TRRAP VANGL2 WLS WNT3 WNT4 WNT7B WT1 ZFPM2 HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES COL25A1 KIF21A PHOX2A TUBA1A TUBB2B TUBB3 ZFHX4 HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES ADAT3 CAPN3 COL12A1 FBN2 KCNK9 MORC2 PIEZO2 PRG4 SCN4A TGFB3 HP_CONGENITAL_HEMOLYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEMOLYTIC_ANEMIA EPB41 GYPC KCNN4 PIEZO1 PKLR SLC4A1 SPTA1 SPTB HP_CONGENITAL_HEPATIC_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEPATIC_FIBROSIS ARHGAP31 B9D1 B9D2 CC2D2A CEP164 CEP290 CSPP1 DCDC2 DLL4 DOCK6 DYNC2H1 DYNC2I1 DYNC2I2 DZIP1L EOGT HAMP HJV IFT140 IFT80 INPP5E INVS IQCB1 MKS1 NOTCH1 NPHP1 NPHP3 NPHP4 PKHD1 PNPLA6 RBPJ RPGRIP1 RPGRIP1L SDCCAG8 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRAF3IP1 TTC26 TXNDC15 WDR19 WDR35 HP_CONGENITAL_HIP_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HIP_DISLOCATION ABCC9 ACTA1 AGRN ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 BICD2 CCDC8 CHAT CHRM3 CLCN3 CLTCL1 COL12A1 COL13A1 COL1A1 COL3A1 COL5A2 CUL7 DHODH DNAJC21 ECEL1 EYA1 FBLN1 FHL1 FIG4 FLNA GEMIN4 GPC3 GPC4 HACD1 HDAC4 HSPG2 IARS2 ITGA7 KAT6B KDM6A KIF22 KMT2D LONP1 MAP3K20 MAP3K7 MKKS MYL2 MYO9A NAA10 NGLY1 NSDHL OBSL1 PAFAH1B1 PIEZO2 PLOD1 PORCN PPP2R5D PTRH2 PUF60 PYCR1 RECQL4 RYR1 SELENON SHROOM4 SIX1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPB SYT2 TBCD TBX15 TELO2 THRA TPM2 TPM3 UBE3B USP9X VAMP1 WNT7A YWHAE ZIC3 ZNF469 HP_CONGENITAL_HYPOPLASTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOPLASTIC_ANEMIA KIF23 LPIN2 RMRP RPS19 ZNF699 HP_CONGENITAL_HYPOTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOTHYROIDISM ADAMTSL1 ATP6V1B2 B3GLCT DUOX2 DUOXA2 FOXE1 GATA6 GLIS3 GNB1 IYD KDM6A KMT2D MC2R MRAP NKX2-1 NKX2-5 NNT PAX8 PDE4D PLAA PRKAR1A SLC5A5 STAR TBC1D24 TG THRA TONSL TPO TRAPPC9 TSHR TXNRD2 YRDC HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA ABCA12 ABHD5 ALOX12B ALOXE3 ASPRV1 CERS3 CYP4F22 EBP ELOVL4 ERCC2 ERCC3 GBA1 GJB2 GJB6 GTF2H5 KDSR KRT1 KRT10 KRT16 KRT2 LORICRIN NIPAL4 NSDHL PNPLA1 POMP SPINK5 ST14 STS SULT2B1 TARS1 TGM1 HP_CONGENITAL_LARYNGEAL_STRIDOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LARYNGEAL_STRIDOR AGTPBP1 EXOSC3 EXOSC8 EXOSC9 NFASC PLP1 SLC25A46 VRK1 HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN BMS1 COL7A1 DLL4 ITGB4 LAMA3 LAMB3 LAMC2 PLEC UBA2 HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES ABCC9 ABCD4 ACSL4 ACTA2 ACTB ACVR2B ADAMTS10 ADAT3 AFF4 AGGF1 AGO2 ALB ALDH1A2 ALG12 ALG8 ALX1 ALX3 AMER1 AMMECR1 ANK1 ANKS6 APC2 ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL6IP6 ARSL ARVCF ARX ASCC1 ASXL2 ATP2B1 ATP6V1B2 B3GLCT BAZ1B BCL7B BCOR BCR BICRA BMP2 BMPR1A BPTF BRAF BRCA1 BRCA2 BRIP1 BUD23 C2CD3 CACNA1C CADM3 CALM3 CASZ1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CD96 CDC42 CDC42BPB CDK8 CDON CEP120 CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CHD4 CHD7 CHRM3 CHUK CIROP CITED2 CLIP2 COA6 COG6 COL18A1 COMT COQ4 COX7B CREBBP CRKL CSGALNACT1 CTCF CTU2 CUX1 CXCR2 CXCR4 DACT1 DDX11 DDX3X DDX59 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DISP1 DLL1 DLL4 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DNMT3A DOCK6 DPF2 DPM1 DPYSL5 DRC1 DTNA DVL3 DYNC2LI1 DYRK1A ECE1 EED EHMT1 EIF2AK3 EIF4H ELN EOGT EP300 ERCC4 ERMARD ESCO2 ESS2 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FKBP14 FKBP6 FKTN FLNA FLT4 FOCAD FOXC1 FOXC2 FOXE3 FOXF1 FOXH1 FOXJ1 FOXP2 FRA10AC1 FTO FUT8 G6PC3 GABRD GAS1 GAS2L2 GAS8 GATA1 GATA4 GATA5 GATA6 GDF1 GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLYCTK GNA11 GNB2 GNPAT GP1BB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HDAC4 HEY2 HIBCH HIRA HLA-B HLA-DRB1 HPGD HSPG2 HTRA2 HYDIN HYMAI IFT27 IGBP1 IGF2 INTU IPO8 ITPR1 JAG1 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNN3 KDR KMT2A KMT2B KRAS KYNU LARS2 LIMK1 LMBRD1 LMNA LMX1B LOX LRRC56 LUZP1 LZTR1 MAD2L2 MAF MAP1B MAP2K1 MAP3K7 MAPK1 MAPKAPK5 MASP1 MAT2A MCIDAS MCTP2 MED11 MED12 MED13L MEGF8 METTL27 MFAP5 MGAT2 MID1 MKKS MKS1 MLXIPL MMP14 MMP2 MMP21 MMP23B MRPS16 MYCN MYH11 MYH7 MYLK MYOCD MYRF NAA10 NAA20 NADSYN1 NCAPG2 NCF1 NEDD4L NEK10 NEK8 NFIX NIPA1 NIPA2 NKX2-5 NKX2-6 NME5 NME8 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPHP3 NR2F2 NSD1 NXN OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTUD5 P4HA2 PACS1 PAH PAK2 PALB2 PCGF2 PCNT PDPN PEX1 PEX19 PHGDH PIGA PIGL PIGN PIGT PKD1L1 PLAGL1 PLCB3 PLCH1 PLXND1 POGZ POLR1A POLR1B POLR1C POLR1D PORCN PPFIBP1 PPP1CB PQBP1 PRDM13 PRDM16 PRDM6 PRIM1 PRKCZ PRKG1 PSMD12 PTCH1 PTEN PTPN11 PTPN22 PUF60 QRICH1 RAB23 RAC1 RAD21 RAD51 RAD51C RAI1 RBM10 RBM8A RBP4 RBPJ RERE RFC2 RFWD3 RIT1 RNU4ATAC ROBO1 ROR2 RPGR RPL11 RPL5 RPS26 RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPRY1 SALL1 SALL4 SAMD9 SEC24C SEMA3E SETD2 SF3B2 SF3B4 SH3PXD2B SHANK3 SHH SIK3 SIX3 SIX6 SKI SKIC2 SKIC3 SLC25A24 SLC29A3 SLC35A2 SLC37A4 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SMC5 SMG9 SNRPB SNRPN SNX14 SON SOX11 SOX2 SOX4 SPAG1 SPECC1L SPEF2 SPEN SRCAP SSR4 STAG2 STK36 STRA6 STX1A STXBP1 SUCLG1 SUFU SUPT16H TAB2 TALDO1 TBC1D24 TBL2 TBX1 TBX2 TBX4 TBX5 TCOF1 TDGF1 TFAP2B TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC6 THSD1 THSD4 TKT TMCO1 TMEM260 TMEM270 TMEM94 TMTC3 TP63 TRAF7 TRIO TRIP11 TRIP4 TRPV6 TRRAP TSFM TTC12 TTC26 TUBG1 TWIST1 UBE2A UBE2T UBE4B UBR7 UFC1 UFD1 UMPS USP18 USP9X VAC14 VPS33A VPS35L VPS37D WAC WASHC5 WDPCP WDR35 WDR37 WLS WT1 XRCC2 YY1AP1 ZBTB7A ZEB2 ZFPM2 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZNF148 ZNF462 ZNF699 HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART ANKRD11 ARHGAP31 B3GLCT CCDC22 CDK8 CFAP53 CIROP COQ4 CPLANE1 CREBBP DPYSL5 DTNA EP300 FLI1 FOXF1 GATA4 GATA5 GATA6 GJA1 GNB2 H3-3B HAAO IFT27 KYNU MCTP2 MKKS MYRF NADSYN1 NKX2-5 NOTCH1 NR2F2 PAH PKD1L1 PLXND1 POLR3A SMAD6 SPOP STAG2 TBX1 TBX5 TMEM218 TRAF7 VPS35L WASHC5 WT1 ZIC3 HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART ATP6V1A ATP6V1B2 BCOR CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CHD7 CIROP CTU2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 DVL3 EIF2AK3 FOXJ1 GAS2L2 GAS8 GATA1 GATA5 GATA6 GDF1 GNB2 HLA-B HLA-DRB1 HYDIN IPO8 LRRC56 MCIDAS MCTP2 MMP14 MMP2 NADSYN1 NEK10 NKX2-5 NKX2-6 NME5 NME8 NODAL NOTCH1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTUD5 P4HA2 PAH PEX19 PIGL PKD1L1 PLCH1 PLXND1 PTPN22 RAI1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SH3PXD2B SMAD2 SPAG1 SPEF2 STAG2 STK36 TBC1D24 TBX1 TBX2 TMEM94 TRAF7 TTC12 UBE2A WASHC5 ZIC3 ZMYND10 HP_CONGENITAL_MUSCULAR_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_DYSTROPHY COL12A1 COL6A1 COL6A2 COL6A3 CRPPA FKRP FKTN GMPPB ITGA7 LAMA2 LARGE1 LMNA MYH7 POMGNT1 POMK POMT1 POMT2 SELENON TTN HP_CONGENITAL_MUSCULAR_TORTICOLLIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_TORTICOLLIS COL12A1 COL6A1 COL6A2 COL6A3 GDF3 GDF6 MEOX1 PPP2R5D SYNGAP1 HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA ABCA12 ABHD5 ALOX12B ALOXE3 ASPRV1 CERS3 CYP4F22 EBP ELOVL4 ERCC2 ERCC3 GBA1 GTF2H5 KDSR KRT10 LORICRIN NIPAL4 PNPLA1 POMP SPINK5 SULT2B1 TARS1 TGM1 HP_CONGENITAL_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NYSTAGMUS ADAR ARHGEF2 ATP6V1B2 CNGB3 EXOSC9 FRMD7 GRIK2 HMX1 HPS3 KRT14 KRT5 LRP5 MT-ATP6 NUP54 NUP62 PAX6 PGAP1 ROBO1 TBC1D24 TMEM106B TRPV6 HP_CONGENITAL_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ONSET AARS1 AARS2 ABCA12 ABCA3 ABCB6 ABCC9 ABCD4 ABL1 ACAD9 ACKR3 ACP5 ACTA1 ACTA2 ACTB ACTG2 ACVR1 ACVR2B ADAMTS19 ADAMTS2 ADAMTS3 ADCY6 ADGRG1 ADNP ADSL AFF4 AGK AGPAT2 AGR2 AGTPBP1 AHDC1 AKT2 ALAD ALDH18A1 ALDH1A3 ALDH3A2 ALG3 ALG8 ALG9 ALOX12B ALOXE3 ALPK3 ALX4 AMH AMHR2 AMPD2 ANKH ANKLE2 ANKS6 ANO1 ANOS1 AP1B1 AP1S1 AP3B1 AP3B2 AP4B1 AP4E1 AP4M1 AR ARCN1 ARHGEF2 ARHGEF9 ARL2 ARL6 ARMC9 ARX ASCC1 ASH1L ASNS ASPM ASXL1 ASXL2 ATAD1 ATCAY ATIC ATN1 ATOH1 ATOH7 ATP11C ATP1A3 ATP2A2 ATP2B1 ATP2B2 ATP2B3 ATP5F1A ATP6V0A2 ATP6V1B2 ATP6V1E1 ATP8A2 ATP9A ATPAF2 ATR AVPR2 B3GALNT2 B4GALT1 BAP1 BBS1 BBS12 BBS4 BBS9 BCAP31 BCL11A BCL11B BCS1L BHLHA9 BICD2 BIN1 BLM BLOC1S3 BLTP1 BMP1 BMPR1B BPNT2 BRAF BRF1 BRPF1 BRWD3 BSCL2 BSND BUB1 C18orf32 C1QBP C2CD3 C2orf69 CA8 CABP2 CACNA1A CACNA1D CALM3 CAMK2B CAPN15 CASK CATSPER2 CAV1 CBFB CC2D2A CCDC103 CCDC28B CCDC32 CCDC39 CCDC88A CCND2 CCNQ CD320 CD8A CDAN1 CDC14A CDC40 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH3 CDK10 CDK13 CDK5 CDK5RAP2 CDK6 CDT1 CENPF CENPJ CEP120 CEP135 CEP152 CEP63 CERS3 CFAP410 CFAP45 CFAP53 CFC1 CFL2 CHAMP1 CHAT CHD7 CHMP1A CHRNA1 CHRNB1 CHRNE CHST14 CHST3 CHUK CIB2 CIROP CIT CITED2 CLCN7 CLCNKA CLCNKB CLDN10 CLMP CLPB CLRN1 CNOT1 CNTNAP1 COA5 COA6 COCH COG1 COG4 COG6 COG7 COL11A1 COL11A2 COL13A1 COL17A1 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A6 COL7A1 COLEC11 COLQ COPB2 COQ4 COQ7 COX5A COX6A2 COX7B CPLANE1 CREB3L1 CREBBP CRELD1 CRIPT CRYAB CRYBA1 CRYBA2 CRYBB1 CRYBB3 CRYGB CSF1R CSPP1 CST6 CTCF CTSD CTU2 CWF19L1 CYB5A CYP19A1 CYP2U1 CYP4F22 DBH DCC DCDC2 DCHS1 DCPS DCT DDX11 DDX59 DHCR7 DHH DICER1 DLL4 DLX5 DMXL2 DNA2 DNAAF3 DNAH9 DNASE2 DNM2 DNMBP DNMT3A DOCK6 DOHH DOLK DONSON DPAGT1 DPH1 DPH5 DPM2 DPP6 DPYD DSE DSG1 DSG4 DSP DSTYK DTNA DTYMK DVL1 DYNLT2B DYRK1A EBP ECE1 ECEL1 ECHS1 ECM1 EDN1 EDN3 EDNRA EDNRB EED EEF1A2 EFEMP2 EGFR EGR2 EIF3F EIF4A3 EIF5A ELN ELOVL4 ELP1 ELP2 ELP4 EML1 EN1 ENPP1 EOGT EP300 EPG5 EPHB4 EPS8 EPS8L3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERGIC1 ESCO2 ESRRB EXOC2 EXOC6B EXOC7 EXOSC3 EXOSC9 EXT2 EXTL3 F13A1 F13B F2 FAM111A FAM111B FAM20C FANCF FANCL FAT4 FBLN5 FBN2 FGA FGB FGF10 FGF16 FGF3 FGFR1 FGFR2 FGFR3 FGG FIBP FIG4 FKRP FKTN FLG2 FLNA FLNB FLT4 FLVCR2 FOCAD FOXC1 FOXE1 FOXE3 FOXI1 FOXRED1 FREM1 FREM2 FTO FUT8 FYCO1 FZD2 FZD6 G6PD GATA1 GATA3 GATA4 GATA5 GATA6 GDAP1 GDF11 GDF3 GDF5 GDNF GEMIN5 GFM1 GFM2 GFRA1 GGPS1 GJA1 GJA8 GJB2 GJB4 GLDN GLE1 GLI1 GLI3 GLRB GLS GMPPA GMPPB GNPAT GORAB GOSR2 GP1BA GP1BB GP9 GPRASP2 GREB1L GRHL3 GRIN1 GSC GSX2 GTF2H5 GTPBP3 GUCY2C GUF1 H1-4 H4C11 H4C3 HAAO HBA1 HBG2 HCCS HCN4 HDAC4 HECTD4 HELLS HEPACAM HERC1 HERC2 HES7 HIVEP2 HK1 HMGB3 HNRNPH1 HNRNPR HOXA2 HOXB1 HOXD13 HPDL HPGD HRAS HRURF HS2ST1 HSD3B2 HSPG2 HYCC1 IARS2 IBA57 IER3IP1 IFIH1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IGBP1 IGF1 IGF1R IGF2 IGHMBP2 IKBKG INPP5K INPPL1 IPO8 IQCE IRF6 IRX5 ITGA3 ITGA6 ITGA7 ITGA8 ITGB4 ITPR1 JAG1 JAM3 JUP KANK1 KARS1 KAT5 KAT6A KATNB1 KATNIP KCNA4 KCNE1 KCNJ10 KCNJ6 KCNK4 KCNN4 KCNQ1 KDM6A KDSR KIAA0586 KIAA0753 KIAA0825 KIF15 KIF1A KIF26A KIF5A KIF7 KIFBP KITLG KLF1 KLHL24 KMT2D KNL1 KRAS KRT1 KRT10 KRT14 KRT5 KRT71 KRT74 KY KYNU LAMA2 LAMA3 LAMA5 LAMB2 LAMB3 LAMC2 LARGE1 LARS2 LBR LEMD3 LFNG LIFR LIPH LMBR1 LMNA LMNB2 LMOD2 LMOD3 LPAR6 LRP2 LRP4 LRP5 LRPPRC LRRC56 LRTOMT LSM11 LSS LTBP1 LTBP4 LZTFL1 MAB21L1 MAB21L2 MAF MAGEL2 MAMLD1 MAP3K20 MAP3K7 MAPKAPK5 MAPRE2 MARK3 MARS2 MARVELD2 MATN3 MBTPS2 MC2R MCM3AP MCPH1 MDFIC MECP2 MED11 MED23 MED25 MEGF10 MEGF8 MEIS2 MET MFSD2A MICOS13 MID1 MINAR2 MIP MITF MKKS MKRN3 MKS1 MMP1 MNX1 MOGS MPC1 MPDZ MPZ MRPS16 MRPS22 MSRB3 MTMR14 MTO1 MUSK MYBPC1 MYCN MYF5 MYH2 MYH3 MYH9 MYL1 MYL11 MYO15A MYO6 MYO7A MYO9A MYSM1 NAA10 NALCN NARS1 NBN NCAPD2 NCAPG2 NCAPH NDE1 NDUFA4 NDUFA6 NDUFAF4 NDUFB11 NECAP1 NECTIN1 NECTIN4 NEDD4L NEK8 NEK9 NF1 NIN NIPAL4 NKX2-1 NKX2-5 NKX3-2 NODAL NOG NOTCH1 NOTCH3 NPAP1 NPHP1 NPHP3 NPHS1 NPR2 NR1H4 NR2F2 NRAS NRCAM NRIP1 NSDHL NUAK2 NUDT2 NUP155 NUP37 NUP88 NUS1 NXN OCRL ODAD3 OFD1 OGDHL OPN1MW ORAI1 ORC1 ORC4 ORC6 OSGEP OTOF OTOG OTOGL OTUD5 PAFAH1B1 PAM16 PAX2 PAX6 PAX8 PC PCDH15 PCDHGC4 PCLO PDCD6IP PDE4D PDE6D PDGFRB PDHX PDX1 PEX10 PEX12 PEX14 PEX19 PEX2 PEX26 PEX3 PEX5 PGAP2 PHGDH PHOX2A PHOX2B PI4KB PIEZO2 PIGF PIGN PIGO PIGT PIGY PIK3CA PITX1 PITX3 PKD1L1 PKHD1 PKLR PKP1 PLAA PLCD1 PLD1 PLEC PLK4 PLXND1 PMM2 PNPLA1 POGZ POLA1 POLE POLR1A POLR1C POLR1D POLR3A POLR3B POMGNT1 POMGNT2 POMK POMP POMT1 POMT2 POP1 PORCN PPFIBP1 PPP1CB PPP2R3C PPP3CA PRDM13 PREPL PRKACA PRKACB PRKAG2 PRKAR1B PRKD1 PRMT7 PRPS1 PRR12 PRUNE1 PSAP PSAT1 PSMC3 PSMD12 PTCH1 PTRH2 PUF60 PWAR1 PWRN1 PXDN PYCR1 PYROXD1 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RALA RAPSN RARB RARS2 RBBP8 RBM10 RBM8A RBPJ RECQL4 REEP1 RFWD3 RFX6 RHOA RIPK4 RIPOR2 RMND1 RMRP RNF113A RNF13 RNU12 RNU4ATAC ROBO1 ROBO3 ROR2 RPA1 RPGRIP1L RPL10 RPL15 RPL27 RPS10 RPS19 RPS26 RPS28 RRM2B RRP7A RSPH3 RSPO2 RUNX2 RUSC2 RXYLT1 RYR1 SALL1 SALL4 SAMHD1 SASS6 SATB2 SCARF2 SCN11A SCN4A SCN5A SCN8A SCN9A SCNM1 SDHB SDR9C7 SEC23A SELENBP1 SELENON SERPINB7 SERPINE1 SF3B2 SF3B4 SFXN4 SHMT2 SIAH1 SIK3 SIN3A SIX3 SIX6 SLC12A2 SLC16A2 SLC25A12 SLC25A19 SLC25A24 SLC25A4 SLC26A2 SLC26A4 SLC2A10 SLC35A3 SLC37A4 SLC39A8 SLC5A7 SLC6A6 SLC6A9 SLITRK6 SMAD2 SMAD6 SMARCAL1 SMARCC1 SMARCD2 SMC1A SMG9 SMO SMOC1 SNORD115-1 SNORD116-1 SNRPB SOX10 SOX18 SOX2 SOX9 SPATA5 SPATA5L1 SPECC1L SPI1 SPINK5 SPRED2 SPTBN4 SRD5A3 SREBF1 SSR4 ST14 STAC3 STAG1 STAG2 STAMBP STIL STRA6 STRC STS SUFU SULT2B1 SUMO1 SVIL SYNE4 SYT2 TAB2 TAF1 TARS2 TASP1 TBC1D20 TBC1D23 TBC1D24 TBC1D8B TBCD TBCE TBCK TBX2 TBX3 TBX6 TCF12 TCOF1 TCTN2 TCTN3 TELO2 TENM3 TFAP2B TGDS TGM1 THOC6 TKT TLK2 TLL1 TMC1 TMCO1 TMEM106B TMEM107 TMEM216 TMEM231 TMEM67 TMEM70 TMEM94 TMEM98 TMPRSS3 TNNC2 TNNT1 TNNT3 TOE1 TP53RK TP63 TPM1 TPM2 TPM3 TRAF7 TRAPPC12 TRAPPC14 TRIM32 TRIM36 TRIM44 TRIP4 TRMT10A TRPM3 TRPV4 TRPV6 TSEN15 TSEN2 TSEN54 TSHR TSPEAR TSR2 TTC26 TTC5 TTC7A TTC8 TUBA1A TUBB TUBB1 TUBB3 TUBB4B TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXN2 TXNDC15 TXNL4A TYMS TYR UBA2 UBA5 UBE2T UBE3B UBR7 UGT1A1 UNC45B UROS USP48 VANGL1 VARS1 VAX1 VIM VLDLR VPS33B VPS35L VRK1 VSX1 VSX2 WARS1 WAS WDPCP WDR19 WDR35 WDR4 WDR62 WDR81 WHRN WLS WNT10A WNT5A WT1 XRCC2 XYLT2 YAP1 YIF1B YRDC YY1 ZBTB20 ZBTB24 ZBTB7A ZC4H2 ZFPM2 ZFYVE19 ZIC1 ZIC3 ZMPSTE24 ZNF141 ZNF148 ZNF335 ZSWIM6 HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE APC2 BNC2 CHRM3 HNRNPH1 IGF2 MID1 NSD1 SETD2 SRCAP HP_CONGENITAL_PTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_PTOSIS BRCC3 COL25A1 DNA2 IGF1 TRIO ZFHX4 HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT ADGRV1 CHD7 COL25A1 COX16 DUSP6 ESRP1 FGF17 FGF8 FGFR1 FOXI1 GJB2 GJB6 GNRH1 GNRHR GREB1L HS6ST1 IGF1 KARS1 KCNE1 KCNJ10 KCNQ1 KIF21A KISS1 KISS1R KITLG KYNU LRTOMT MAP3K7 MITF MRPS7 NHLH2 NSMF PAX3 PCDH15 PDZD7 PHOX2A POU3F4 PROK2 PROKR2 PRPH2 PRPS1 RAC1 RDH5 RHO RLBP1 ROR1 SLC26A4 SPRY4 TAC3 TACR3 TUBA1A TUBB2B TUBB3 USH1C USH2A WDR11 WFS1 HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS CABP4 CACNA1F CACNA2D4 FGFR2 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 MYO6 NYX PDE6B PRPH2 RDH5 RHO RLBP1 SAG SLC24A1 TRAPPC9 TRPM1 HP_CONGENITAL_THROMBOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_THROMBOCYTOPENIA GATA1 HOXA11 MECOM MYH9 STAT2 WAS HP_CONGESTIVE_HEART_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGESTIVE_HEART_FAILURE AARS2 ABCC6 ABCC9 ACAD9 ACTC1 ACTN2 ACVRL1 ADAMTSL2 ADCY5 AFF4 AGGF1 AGPAT2 ALDH18A1 ALMS1 ALPK3 AP1S3 ATP5F1A ATP6V1A ATXN7 BAG3 BAG5 BAZ1B BCHE BCL7B BMP2 BMP6 BSCL2 BUD23 CACNA1S CASR CAV1 CAV3 CAVIN1 CCN2 CCR6 CDH23 CEP19 CITED2 CLIC2 CLIP2 CLPB COG7 COL1A1 COL1A2 COX16 CP CSRP3 DES DLST DMD DNAJC19 DNAJC30 DNMT3A DOHH DOLK DSG2 DSP DTNA EFEMP2 EIF4H ELAC2 ELN ENG ENPP1 EPAS1 EPG5 EPHB4 EYA4 FBLN5 FBN1 FGD1 FGFR3 FH FKBP6 FLNA FLNC FOS FXN GAA GATA4 GATA6 GATAD1 GDF2 GLA GLB1 GNA11 GNPTAB GPR35 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 HADHA HADHB HAMP HBA1 HBA2 HBB HFE HJV HLA-DRB1 HNRNPA1 HNRNPA2B1 IDS IFIH1 IKBKG IL36RN IL6ST IRF5 JUP KCNJ5 KCTD1 KIF1B LAMP2 LDB3 LIMK1 LMNA LRPPRC LTBP1 MAPRE2 MAX MDH2 MECP2 METTL27 MLXIPL MST1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTTP MYBPC3 MYD88 MYH6 MYH7 MYL3 MYLK2 MYPN MYSM1 NCF1 NDUFAF1 NDUFB11 NF1 NKX2-5 NPPA NSMCE2 OPA1 PDE11A PEX7 PHYH PLN PLOD1 PNPLA2 PPA2 PPARG PRDM16 PRKAG2 PRKAR1A PSEN1 PSEN2 PSMB8 PTEN RAB3GAP2 RAF1 RASA1 RBCK1 RBM20 RET RFC2 RPS19 RYR1 SCN1B SCN4A SCN5A SCO1 SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA4D SF3B1 SGCA SGCD SLC17A5 SLC19A2 SLC22A5 SLC25A11 SLC25A26 SLC25A3 SLC2A10 SMAD4 SMARCAL1 SNAP29 SPTBN1 STAT1 STRADA STX1A TAB2 TAFAZZIN TBL2 TBX20 TCF4 TET2 TF TFAM TLL1 TMEM127 TMEM270 TMEM43 TMEM70 TNNC1 TNNI3 TNNI3K TNNT2 TOM1 TPI1 TPM1 TRIM37 TRIP4 TRPM4 TTN TTR TUBB VCL VCP VEZF1 VHL VPS33A VPS37D WRN XYLT1 XYLT2 HP_CONICAL_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_INCISOR ARHGAP29 ARHGEF38 ATR AXIN2 B3GLCT BMP4 CCBE1 CDH1 COBLL1 DLG1 DLX4 DYNC2LI1 EDA EDARADD EVC EVC2 FGF3 FGFR1 FGFR2 GLI1 IKBKG IRF6 KAT6A LRP6 MSX1 NECTIN1 NEK1 PAX9 PDGFRA PRKACA PRKACB RIC1 ST14 SUMO1 TGFA TP63 WNT10A WNT10B HP_CONICAL_TOOTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_TOOTH ALX4 ANAPC1 ARHGAP29 ARHGEF38 ARID1B ATP6V0A2 ATP6V1B2 ATR AXIN2 B3GLCT BMP4 CCBE1 CDH1 COBLL1 CTNND1 DHODH DLG1 DLX4 DYNC2LI1 EDA EDAR EDARADD EVC EVC2 FGF3 FGFR1 FGFR2 FGFR3 GLI1 IKBKG IRF6 KAT6A LRP6 MSX1 NECTIN1 NECTIN4 NEK1 NFKBIA PAX9 PDGFRA PRKACA PRKACB RHOA RIC1 RUSC2 SATB2 SMARCD2 ST14 SUMO1 TGFA TP63 TSPEAR WNT10A WNT10B HP_CONJUGATED_HYPERBILIRUBINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUGATED_HYPERBILIRUBINEMIA ABCB11 ABCC2 AKR1D1 ATP8B1 BAAT GLRX5 HSD3B7 IARS1 IL12A IL12RB1 IRF5 KIF12 MMEL1 MYO5B NR1H4 PEX14 PEX2 PKHD1 POLG2 POU2AF1 ROBO1 SLC17A5 SLC25A13 SLC2A1 SLC51A SLCO1B1 SLCO1B3 SPIB TFAM TNFSF15 TNPO3 TTC26 UBR1 VIPAS39 VPS33B HP_CONJUNCTIVAL_HAMARTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HAMARTOMA AKT1 KLLN KRT1 KRT10 PIK3CA PTEN SDHB SDHC SDHD SEC23B USF3 HP_CONJUNCTIVAL_HYPEREMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HYPEREMIA AP1G1 MAPT NLRP3 SHMT2 TNFRSF1A HP_CONJUNCTIVAL_ICTERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_ICTERUS FH PIEZO1 PIGA PKHD1 SLCO1B1 SLCO1B3 UBR1 HP_CONJUNCTIVITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVITIS AARS1 AEBP1 AIRE AP1B1 BLNK BTD BTK BTNL2 C4A CARS1 CCR1 CD19 CD79A CD79B COL17A1 COL7A1 CR2 DDB2 DKC1 DNASE1L3 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERF FAS FBN1 FERMT1 FGF10 FGFR2 FGFR3 FOXC2 GATA1 GJB2 GJB6 GNAS GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 ICOS IFNGR1 IGHM IGLL1 IGSF3 IKZF1 IL10 IL12A IL12A-AS1 IL23R KAT6A KLRC4 LBR LRBA LRRC8A MAB21L1 MBTPS2 MEFV MMP1 MPLKIP MTTP NLRP1 NLRP3 NOD2 PAX1 PIK3R1 PLG POLH PSMB4 PSMB8 PSMB9 RAG1 RAG2 RECQL RNF113A RNF125 SAMD9 SCN9A SLC39A4 SLC39A7 SPI1 SREBF1 STAT4 STX11 STX16 TARS1 TCF3 TFRC TKT TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TP63 UBAC2 UROD UROS USB1 VPS33A WAS WIPF1 XPA XPC HP_CONNECTIVE_TISSUE_NEVI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONNECTIVE_TISSUE_NEVI IFNG LEMD3 PTEN SLC25A24 TSC1 TSC2 HP_CONSPICUOUSLY_HAPPY_DISPOSITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSPICUOUSLY_HAPPY_DISPOSITION HNRNPH2 KANSL1 NALCN SATB2 SIN3A SLC9A6 UNC80 HP_CONSTIPATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTIPATION ABCD1 ABL1 ACTG2 ADAT3 ADH1C ADNP AFF3 AFF4 ALAD ALDOB ALPL AMN APC APC2 AQP2 ARID2 ARNT2 ARSB ARVCF ASH1L ATN1 ATP1A2 ATP1A3 ATP7A ATRX ATXN2 ATXN8OS AVPR2 BAZ1B BCL10 BCL7B BICRA BIRC3 BMPR1A BRAF BRCA1 BUD23 CACNA1A CACNA1C CACNA1S CAMK2B CAMTA1 CASR CASZ1 CAVIN1 CD96 CDC73 CDK13 CDKL5 CDKN1A CDKN1B CDKN2B CDKN2C CDON CHCHD2 CHD8 CHMP1A CHRM3 CHST14 CISD2 CLCNKB CLIP2 CLP1 CNP COL1A1 COL5A1 COL5A2 COL7A1 COMT COQ2 CPOX CREBBP CSNK2A1 CTNS CUBN DACT1 DCPS DDC DDHD2 DDOST DEAF1 DES DHCR7 DHPS DISP1 DLL1 DMPK DNAJC13 DNAJC30 DNAJC6 DNM1 DPF2 DSE DUOX2 DUOXA2 DYRK1A ECE1 EDA EDN3 EDNRB EIF4G1 EIF4H EIF5A ELF4 ELN ELP1 EP300 EPCAM ERBB2 ERBB3 EXT2 FAN1 FAR1 FBXO28 FBXW7 FDFT1 FGF12 FGF13 FGF8 FGFR1 FKBP6 FLI1 FLII FLNA FOXA2 FOXE1 FOXG1 FOXH1 FOXP1 FRMD5 GABRA3 GABRD GALNT2 GAS1 GATAD2B GBA1 GDNF GGT1 GIGYF2 GJC2 GLI2 GLUD2 GNB2 GP1BB GRB10 GRIA1 GRIN1 GTF2I GTF2IRD1 GTF2IRD2 H1-4 H3-3A H3-3B H4C5 HESX1 HEXB HIRA HIVEP2 HMBS HNRNPH2 HNRNPK HPSE2 HS2ST1 HSPG2 HTRA2 IGBP1 IGHMBP2 IPO8 IQSEC2 IYD JMJD1C KCNAB2 KCNH1 KCNJ1 KCNJ18 KDM1A KIT KMT2A KMT2B KMT5B KRAS LAMA3 LAMB3 LAMC2 LBX1 LHX3 LHX4 LIMK1 LMNB1 LMNB2 LMX1B LRIG2 LRRK2 LUZP1 MADD MAGEL2 MALT1 MAPT MARS2 MBD5 MC2R MDH2 MECP2 MED12 MED12L MED13 MED25 MEFV MEN1 METTL27 MITF MLH1 MLH3 MLXIPL MLYCD MMP1 MMP23B MNX1 MOGS MRAP MRPS34 MSH2 MSH6 MSL3 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MYH11 MYO1H NAB2 NALCN NCF1 NFIX NGF NGLY1 NKX2-1 NKX2-5 NNT NODAL NR4A2 NRTN NRXN1 NSD1 NSD2 OCA2 OCRL ODC1 OPA1 OTUD6B OTX2 P4HTM PACS1 PAK2 PARK7 PAX8 PCCA PCCB PCGF2 PDGFRA PDPN PEX16 PHIP PHOX2B PIGS PIGV PIK3CA PINK1 PLA2G6 PLCH1 PMS1 PMS2 PODXL POGZ POLG POLG2 POLRMT POR POU1F1 POU4F1 PPM1D PPOX PPP1CB PPP1R21 PPP2R1A PRDM16 PRKCZ PRKG2 PRKN PRNP PROKR2 PROP1 PSMB8 PTCH1 RAI1 RERE RET RFC2 RFX7 RMRP RORA RPS20 RREB1 RRM2B SALL1 SATB1 SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHB SDHC SEC24C SEMA3C SEMA3D SEMA4A SETD1A SETD2 SETD5 SH2B1 SHH SHQ1 SIK3 SIN3A SIX3 SKI SLC12A1 SLC12A2 SLC12A3 SLC1A3 SLC25A36 SLC25A4 SLC26A4 SLC38A3 SLC5A5 SLC6A3 SLC6A8 SMARCA2 SMC1A SMO SMPD1 SNCA SNCAIP SNRPN SOX10 SOX17 SOX2 SOX3 SPART SPATA5 SPEN SPOP SPTBN1 SRCAP SREBF1 STAG2 STAR STAT6 STIL STX1A STXBP1 SUPT16H SYNJ1 TAF1 TANC2 TAOK1 TBCD TBL1X TBL2 TBP TBX1 TCEAL1 TCF20 TCF4 TDGF1 TFE3 TG TGFBR2 TGIF1 TH THRA TLK2 TMCO1 TMEM270 TNFRSF1A TPO TRH TRIM8 TRIO TSHB TSHR TSPOAP1 TTR TWNK TXNRD2 TYMP UBE2A UBE3A UBE3B UBE4B UCHL1 UFC1 UFD1 UGP2 UNC80 UPF3B USP7 USP9X VANGL1 VPS11 VPS13C VPS35 VPS37D VPS51 WAC WASF1 WDR26 WFS1 YME1L1 ZEB2 ZIC2 ZMIZ1 ZNF292 ZSWIM6 HP_CONSTITUTIONAL_SYMPTOM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTITUTIONAL_SYMPTOM AAGAB ABCA1 ABCA12 ABCB11 ABCB4 ABCC2 ABCC6 ABCC9 ABCD1 ABCG5 ABCG8 ABL1 ACAD9 ACADM ACADVL ACAT1 ACP5 ACSF3 ACTA1 ACTA2 ACTC1 ACTG2 ACTN4 ADA2 ADAMTS19 ADNP AGBL1 AGK AGXT AIP AKAP9 AKT1 ALAD ALAS2 ALB ALDH18A1 ALDH4A1 ALDOA ALDOB ALG10B ALG5 ALG9 ALMS1 ALOX12B ALOXE3 ALS2 AMPD1 AMPD3 AMT ANG ANK1 ANK2 ANKFY1 ANKH ANKRD55 ANLN ANO5 ANTXR2 ANXA11 AP1S3 AP2S1 AP5Z1 APC APOB APOL1 APRT ARHGAP24 ARHGDIA ARMC5 ARNT2 ARSA ARSB ARVCF ARX ASAH1 ASPN ASPRV1 ASXL1 ATL1 ATL3 ATM ATP13A2 ATP13A3 ATP2A1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP7A ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX ATXN10 ATXN2 ATXN3 ATXN8OS AUH B2M BAP1 BAZ1B BCL10 BCL11A BCL2 BCL6 BCL7B BCOR BCR BCS1L BICC1 BICD2 BIN1 BIRC3 BLNK BMP2 BMP6 BMPR1A BNC2 BRCA1 BRCA2 BSCL2 BTK BTNL2 BUD23 BVES C1QB C1QBP C1R C1S C4A CABP4 CACNA1C CACNA1G CACNA1H CACNA2D1 CALM1 CALM2 CALM3 CALR CAPN1 CAPN3 CARD8 CARMIL2 CARS2 CASK CASQ1 CASQ2 CASR CAT CAV1 CAV3 CAVIN1 CBL CCDC78 CCL2 CCN2 CCN6 CCND1 CCNF CCR1 CCR6 CD19 CD244 CD247 CD28 CD2AP CD46 CD55 CD79A CD79B CD81 CDC73 CDH2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEBPE CEL CFAP410 CFAP43 CFH CFI CFTR CHCHD10 CHEK2 CHMP2B CHRNA2 CHRNA4 CHRNB2 CHST11 CHST3 CHST6 CIITA CITED2 CLCF1 CLCN1 CLCN5 CLCN7 CLCNKB CLDN16 CLIP2 CLPB CNBP COA3 COG5 COL10A1 COL11A1 COL11A2 COL12A1 COL13A1 COL14A1 COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A3 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COMP COMT COPA COPB1 COQ2 COQ6 COQ7 COQ8A COQ8B CORIN COX6B1 CPA1 CPLX1 CPOX CPT1A CPT1C CPT2 CR2 CRB2 CRH CRKL CRLF1 CRPPA CSRP3 CTLA4 CTNNB1 CTNS CTRC CTSK CYP19A1 CYP27B1 CYP2R1 CYP4F22 CYP7B1 CYSLTR2 DAAM2 DACT1 DAO DAXX DBH DCC DCTN1 DDB2 DDHD2 DDIT3 DDRGK1 DEPDC5 DES DGAT1 DGUOK DIS3L2 DKK1 DLEC1 DLL3 DLST DMD DMGDH DMP1 DMPK DNA2 DNAJB11 DNAJB6 DNAJC19 DNAJC30 DNAJC6 DNAL4 DNASE1L3 DNM1L DNM2 DNMT1 DNMT3A DPH5 DPM3 DPP6 DPYSL5 DSC2 DSE DSG2 DSP DSTYK DTNA DYSF ECE1 EDN3 EDNRB EHHADH EIF2AK2 EIF2AK4 EIF4H ELANE ELF4 ELN EMD EMP2 ENG ENO3 ENPP1 EPAS1 EPB41 EPB42 EPCAM EPHA4 EPOR ERAP1 ERBB2 ERBB3 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERLIN1 ESR1 EWSR1 EXT1 EXT2 EYA4 F12 F5 F8 FA2H FAN1 FAR1 FARS2 FARSA FARSB FAS FBN1 FDX2 FERMT3 FGF13 FGF23 FGFR1 FGFR3 FH FHL1 FHOD3 FIG4 FIP1L1 FITM2 FKBP6 FKRP FKTN FLAD1 FLI1 FLNC FLT1 FLVCR1 FMO3 FMR1 FN1 FOXA2 FOXE1 FOXE3 FOXP1 FRMD5 FSHR FTL FUS FUZ G6PD GAA GABRA1 GABRB3 GABRG2 GALC GALNT2 GANAB GAPVD1 GATA2 GATA4 GATA5 GATA6 GATM GBA1 GBA2 GBE1 GCDH GCGR GCH1 GCK GDNF GFAP GFI1 GGT1 GHSR GIMAP5 GJA5 GJB2 GJB6 GJC2 GLA GLDC GLE1 GLI2 GLT8D1 GMPPB GNA11 GNA14 GNAI2 GNAQ GNAS GNB2 GNE GNPTG GOSR2 GP1BB GPC3 GPD1L GPR101 GPR35 GRHL2 GRM1 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C GUF1 GYPC GYS1 H19 HABP2 HACD1 HACE1 HADHA HADHB HARS1 HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCN4 HELLPAR HEPHL1 HESX1 HEXB HEY2 HFE HGD HINT1 HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMGCL HNF4A HNRNPA1 HNRNPA2B1 HOGA1 HPDL HPGD HPS1 HPSE2 HRAS HS3ST6 HS6ST2 HSPD1 HSPG2 HTRA1 HYAL1 ICOS IDH1 IDH2 IDUA IFNGR1 IFT140 IFT57 IGHG2 IGHM IGHMBP2 IGKC IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL18BP IL1R1 IL1RN IL21 IL23R IL2RA IL2RB IL36RN IL6 IMPDH2 INF2 INSR IRAK1 IRF2BP2 IRF4 IRF5 ISCU ISL1 ITGA7 IVNS1ABP JAG1 JAK2 JMJD1C JRK JUP KBTBD13 KCNA5 KCNC3 KCND3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ3 KCNJ5 KCNN4 KCNQ1 KCNT1 KIF11 KIF1B KIF23 KIF5A KIF7 KIT KL KLF1 KLHL24 KLHL41 KLRC4 KMT2B KPNA3 KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KY LACC1 LAMP2 LBR LDB3 LDHA LDLR LDLRAP1 LEMD2 LEMD3 LHX3 LHX4 LIG3 LIMK1 LIPN LMNA LMNB1 LMNB2 LMX1B LOX LPIN1 LPIN2 LPL LRIF1 LRIG2 LRP1 LRP5 LRP6 LRRC8A LZTR1 MAFB MAGI2 MALT1 MAN2B1 MAP3K20 MAPK1 MAPK8IP3 MAT1A MAT2A MATN3 MATR3 MAX MC2R MCM6 MDH2 MDM4 MED12 MEF2A MEFV MEN1 MESP2 MET METTL27 MFAP5 MFN2 MGME1 MIEF2 MIF MINPP1 MITF MLH1 MLH3 MLIP MLX MLXIPL MLYCD MMADHC MME MMEL1 MMP1 MMP13 MMP2 MMUT MNX1 MOCOS MORC2 MPL MRAP MRPS2 MS4A1 MSH2 MSH6 MSMO1 MST1 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTHFD1 MTMR14 MTTP MVK MYBPC3 MYC MYD88 MYF6 MYH11 MYH3 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK MYLK2 MYO1E MYO1H MYOT MYOZ2 MYPN NAB2 NABP1 NAGLU NAGS NAXE NCF1 NCF4 NDUFAF6 NDUFS4 NEB NEFH NEFL NEK1 NEXMIF NF1 NF2 NFKB1 NFKB2 NFKBIL1 NGF NGLY1 NIPA1 NIPAL4 NKX2-1 NKX2-5 NKX2-6 NKX3-2 NLRC4 NLRP12 NLRP3 NNT NOD2 NOP56 NOS1 NOS1AP NOTCH2 NOTCH2NLC NOTCH3 NPHS1 NPHS2 NPM1 NPPA NPRL2 NPRL3 NR1H4 NR3C1 NR4A2 NRTN NSDHL NTN1 NTRK1 NUMA1 NUP107 NUP133 NUP155 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OPA1 OPA3 OPLAH OPTN ORAI1 OTC OTULIN OTX2 OVOL2 P4HA2 PALB2 PALLD PANK2 PAX2 PAX8 PCSK9 PDCD1 PDGFB PDGFRA PDGFRB PEX11B PFKM PFN1 PGAM2 PGK1 PGM1 PHEX PHIP PHKA1 PHKA2 PHKB PHKG2 PIEZO1 PIEZO2 PIGA PIGF PIGT PIGY PIK3CA PIK3CG PIK3R1 PITX2 PKD1 PKD2 PKDCC PKHD1 PKP2 PLCE1 PLCG2 PLEC PLEKHM1 PLN PLP1 PML PMP22 PMS1 PMS2 PNPLA2 PNPLA8 PNPT1 PODXL POLE POLG POLG2 POLR2A POLR3A POLR3B POLR3GL POMGNT1 POMP POMT1 PON1 PON2 PON3 PORCN POT1 POU1F1 POU2AF1 POU6F2 PPA2 PPARG PPARGC1A PPOX PPP2R5D PRDM5 PRDM8 PREPL PRKAG2 PRKAR1A PRKCD PRKCSH PRKG1 PRKRA PRNP PROC PROKR2 PROP1 PRORP PROS1 PRPH PRSS1 PRSS2 PRTN3 PSAP PSMB4 PSMB8 PSMB9 PSTPIP1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PTPN3 PTPRO PUS1 PYGL PYGM RABL3 RACGAP1 RAD21 RAD51 RAPSN RARA RASA1 RB1 RBCK1 RBM20 REEP2 RELA REST RET RETREG1 RFC2 RHAG RIN2 RIPK1 RNASEH1 RNF168 RNF170 RNF6 RNU4ATAC RPS20 RREB1 RRM2B RSPH4A RSPH9 RSRC1 RTN2 RUNX1 RYR1 RYR2 SAA1 SACS SALL1 SAT1 SBF1 SCARB2 SCN10A SCN11A SCN1A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC24C SEC63 SELENBP1 SELENON SEMA3C SEMA3D SEMA4A SEMA4D SEPTIN9 SERPINA6 SERPINF2 SERPING1 SF3B1 SFRP4 SGCD SH2B3 SH3TC2 SHQ1 SI SIGMAR1 SIN3A SLC11A1 SLC12A3 SLC18A2 SLC18A3 SLC1A4 SLC20A2 SLC22A12 SLC22A4 SLC25A11 SLC25A13 SLC25A26 SLC25A32 SLC25A4 SLC25A42 SLC26A1 SLC26A2 SLC26A4 SLC2A1 SLC2A10 SLC2A9 SLC34A1 SLC34A2 SLC34A3 SLC39A14 SLC39A7 SLC3A1 SLC40A1 SLC44A1 SLC4A1 SLC4A11 SLC4A3 SLC9A6 SLCO2A1 SMAD2 SMAD3 SMAD4 SMARCB1 SMARCE1 SMO SMPD1 SNTA1 SNX10 SOD1 SOST SOX10 SOX2 SOX3 SPAST SPG11 SPG7 SPI1 SPIB SPINK1 SPP1 SPTA1 SPTB SPTBN1 SPTLC1 SPTLC2 SQSTM1 SREBF1 SRP19 SRP54 SRSF2 STAR STAT1 STAT3 STAT4 STAT5B STAT6 STEAP3 STIM1 STING1 STK11 STOX1 STUB1 STX16 STX1A SUFU SULT2B1 SURF1 SVIL SYK SYNE1 SYNE2 SYNJ1 TAB2 TACSTD2 TAF15 TAFAZZIN TARDBP TBC1D24 TBC1D8B TBCD TBK1 TBL1XR1 TBL2 TBP TBX1 TBX18 TBX19 TBX20 TBX5 TBX6 TBXT TCF3 TCF4 TCIRG1 TECRL TEK TERT TET2 TFR2 TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 TGM1 TH THPO THRB THSD4 TICAM1 TIMM50 TK2 TLL1 TLR3 TLR4 TLR7 TMEM126B TMEM127 TMEM270 TMEM43 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TNFSF15 TNNC1 TNNI3 TNNT2 TNPO3 TNXB TONSL TOP3A TP53 TP63 TPM1 TPM2 TPM3 TRAF3 TRAF7 TRANK1 TRAPPC11 TRAPPC2 TRDN TREH TREM2 TREX1 TRHR TRIM28 TRIM32 TRIO TRIP13 TRMT5 TRPA1 TRPC6 TRPM4 TRPS1 TRPV4 TSC1 TSC2 TSHB TSHR TSPOAP1 TSPYL1 TTN TTR TWNK TXNRD2 TYMP TYROBP UBA1 UBAC2 UBAP1 UBQLN2 UBR7 UFD1 UFSP2 UNC13A UNC45A UNC45B UNC93B1 UQCRH VANGL1 VANGL2 VAPB VCP VDR VHL VPS37D VSX1 VWA1 WAS WASHC5 WIPF1 WNT1 WNT3A WRN WT1 WWOX XPA XPC YARS2 YY1 ZBTB16 ZC4H2 ZEB1 ZEB2 ZFTA ZFYVE26 ZMPSTE24 ZMYM2 ZNF469 ZNF687 ZNRF3 HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD ABCA4 AGBL5 AIPL1 AIRE ALMS1 AMACR ARL3 ARL6 ARSG BBS1 BBS2 CACNA2D4 CC2D2A CCDC28B CDHR1 CERKL CFAP418 CHM CLRN1 CNGA1 CNGB1 CRX CWC27 CYP1B1 CYP4V2 DHDDS DLAT DNM1L EFEMP1 ELOVL1 EYS FAM161A GNAT1 GUCY2D HGSNAT HK1 HKDC1 IDH3A IDH3B IDS IFT140 IFT172 IMPDH1 KIF3B KIZ LCA5 LRAT MERTK MT-ATP6 MYOC NR2E3 NRL OAT OFD1 OPA1 PDE6A PDE6G PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 POC1B POMGNT1 POU3F4 PROM1 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAX2 RBP3 RDH11 RDH5 REEP6 RGR RHO RLBP1 RNU4ATAC ROM1 RP1 RP2 RP9 RPE65 RPGR RRM2B SAG SDHA SEMA4A SH3BP2 SH3TC2 SLC6A6 SOST SPATA7 TIMM8A TMEM126A TULP1 YARS1 ZNF408 ZNF513 HP_CONTINUOUS_SPIKE_AND_WAVES_DURING_SLOW_SLEEP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTINUOUS_SPIKE_AND_WAVES_DURING_SLOW_SLEEP CACNA2D1 CNKSR2 FRRS1L GRIN2A KCNC2 KCNQ2 SCN2A SRPX2 TRIM8 TRPM3 HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS IDUA KMT2A LMX1B SIN3A SOX9 TOR1AIP1 HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_2ND_FINGER COL1A1 LFNG NEDD4L PLOD3 RPL10 HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_5TH_FINGER ARPC4 HOXD13 KDM5B LIFR PIGL HP_CONVEX_NASAL_RIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONVEX_NASAL_RIDGE ADAR ALG9 APC ASH1L ASPH ATP7A ATR ATRIP BANF1 C12orf57 CCDC22 CENPE CENPJ CENPT CEP152 COG4 COL1A1 COL1A2 COL3A1 CPLX1 CREBBP CSGALNACT1 CTBP1 CTSK DNA2 DONSON DPF2 EFEMP2 ELN EP300 ERCC2 ERCC4 ERF FGFR2 FGFR3 FGFRL1 GRIP1 IFIH1 IL11RA ITCH LEMD2 LETM1 LIG4 LMNA LRP4 LSM11 LTBP1 MBTPS2 MEIS2 MGAT2 NBN NEK9 NHEJ1 NSD2 NUP188 NUP85 PCNT PDGFRB PEX1 PLK4 POLD1 POLR3A PPP2R3C PRPS1 PTF1A RBBP8 RLIM RMRP RNASEH2A RNASEH2B RNASEH2C RNU7-1 RUNX2 SAMHD1 SATB2 SCARF2 SLC25A24 SLC2A10 TBCE TRAIP TREX1 TRIP13 TWIST1 UBR1 VPS13B WRN XRCC4 ZEB2 ZMPSTE24 ZPR1 HP_CONVULSIVE_STATUS_EPILEPTICUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONVULSIVE_STATUS_EPILEPTICUS CACNA1A MAST3 PCDH19 PEX5 SLC2A1 SYNJ1 VAMP2 HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA CASP10 FAS FASLG FOXP3 HMOX1 LAT PRKCD RASGRP1 SOCS1 TNFRSF4 HP_CORNEAL_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_DYSTROPHY AGBL1 AGK CHRDL1 CHST6 COL17A1 COL8A2 CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CYP4V2 DCN EXOSC2 GJA8 GLA GNAQ GSN KRT12 MAF MBTPS2 OPN1LW OPN1MW PIKFYVE PRDM5 SLC25A4 SLC4A11 TACSTD2 TGFBI TKFC TRIM37 UBIAD1 ZEB1 ZNF469 HP_CORNEAL_EROSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_EROSION ABCA12 ALDH3A2 ALOX12B ALOXE3 CERS3 CHST6 CLTCL1 COL17A1 COL4A3 COL4A4 COL4A5 COL7A1 CTNS DCN ELP1 EPCAM FERMT1 FGF10 FGFR2 FGFR3 FOXC2 GJB2 GJB6 HLA-B IKZF1 KIFBP KRT3 MBTPS2 MMP1 MPV17 NIPAL4 NTRK1 PAX6 PERCC1 PLCG2 PNPLA1 PRDM5 SDR9C7 SLC39A4 SPINT2 SULT2B1 TGFBI TGM1 TP63 TWIST2 WT1 ZNF469 HP_CORNEAL_GUTTATA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_GUTTATA AGBL1 COL8A2 KCNJ13 SLC4A11 TCF4 ZEB1 HP_CORNEAL_NEOVASCULARIZATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_NEOVASCULARIZATION ARVCF COL4A1 COMT CYP1B1 DDR2 ERCC2 FGF10 FGFR2 FGFR3 GJB2 GJB6 GP1BB HIRA JMJD1C MBTPS2 NGLY1 NLRP1 PAX6 RREB1 SEC24C SREBF1 TACSTD2 TBX1 UFD1 WT1 HP_CORNEAL_OPACITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_OPACITY ABCA1 ABCG8 AGBL1 AIRE ALDH18A1 ALDH3A2 ANKRD55 APOA1 APOA2 APOB APOE ARSB ASAH1 ATAD3A ATOH7 ATP7B B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCL7B BMP4 BUB1 BUB1B BUB3 BUD23 CC2D2A CD247 CENPF CEP290 CEP57 CHRDL1 CHST6 CHUK CLIP2 COL11A1 COL17A1 COL18A1 COL4A1 COL7A1 COL8A2 COLEC10 COX7B CPAMD8 CPLX1 CREBBP CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 CTNS CTSA CYP1B1 CYP4V2 DAG1 DDB2 DHCR7 DNAJC30 DST DYM DYRK1A EIF4H ELN ELP1 EP300 EPHX2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FBLN5 FERMT1 FGFR1 FIG4 FKBP6 FKRP FKTN FLG FLNB FOXC1 FOXE3 FRAS1 FUCA1 FZD4 GALNS GBA1 GHR GJA1 GJA8 GJB2 GJB3 GJB4 GLA GLB1 GNAS GNPTAB GNPTG GRHL2 GTF2I GTF2IRD1 GTF2IRD2 GUSB HCCS HMX1 HRAS IDS IDUA IKBKG IL2RA IL2RB JAG1 JAM2 KDSR KERA KIF11 KRAS KRT12 KRT14 KRT5 LARGE1 LCAT LDLR LETM1 LIFR LIMK1 LIPC LMNA LRP5 LTBP2 MAB21L2 MAF MAFB MAN2B1 MAPKAPK5 MBTPS2 MCOLN1 METTL27 MKS1 MLXIPL MMP1 MMP14 MMP2 MPV17 MT-CYB MYORG NAGA NCAPG2 NCF1 NDP NDUFB11 NELFA NEU1 NGLY1 NLRP3 NOD2 NRAS NSD2 NTRK1 OCLN OCRL OTUD5 OVOL2 PAX6 PCSK9 PCYT1A PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGG PIGL PIGN PIK3R1 PITX2 PITX3 PLCB3 PLXND1 POLA1 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PPP1R17 PRDM12 PRDM5 PSMB8 PTPN2 PTPN22 PXDN RAB23 RAX RBM8A REV3L RFC2 RIPK4 RPGRIP1 RPGRIP1L RXYLT1 SC5D SCARF2 SIX6 SLC20A2 SLC25A24 SLC29A3 SLC4A11 SLC4A4 SMARCAL1 SOX2 SREBF1 ST14 STAT4 STS STX1A SUMF1 TACSTD2 TAT TBCE TBCK TBL2 TBX1 TCF4 TCTN1 TCTN2 TCTN3 TENM3 TGFBI TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TRAPPC2 TRIP13 TRPV3 TRPV4 TWIST2 TXNDC15 UBIAD1 UROS VAC14 VPS37D VSX1 VSX2 WDR73 WT1 XPA XPC XPR1 YAP1 ZEB1 ZFHX2 ZMPSTE24 ZNF469 HP_CORNEAL_SCARRING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_SCARRING COL17A1 COL7A1 CREBBP DST EP300 ERCC4 GJB2 MMP1 MPV17 NCAPG2 NGLY1 NTRK1 OCRL POLA1 PRDM12 PRDM5 SIX6 TGFBI UROS ZFHX2 ZNF469 HP_CORNEAL_STROMAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_STROMAL_EDEMA COL8A2 GRHL2 OVOL2 PDGFRB SLC4A11 TCF4 TEK TGFBI VSX1 ZEB1 HP_CORNEAL_ULCERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_ULCERATION ELP1 ERCC6 ERCC8 FGF10 FGFR2 FGFR3 FOXC2 GATA1 GJB2 GSN KIFBP LMNA MPV17 MTTP NGLY1 NTRK1 PRDM12 RIPK4 TAT UROD UROS ZMPSTE24 HP_CORONAL_CLEFT_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CLEFT_VERTEBRAE ALDH1A2 ARSL CHST3 COL11A2 COL2A1 CSGALNACT1 FLNB GNPAT HSPA9 HSPG2 IARS2 LAMA5 LONP1 PEX7 SLC10A7 SLC26A2 TRIP11 TRPV4 HP_CORONAL_CRANIOSYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CRANIOSYNOSTOSIS ALX4 BPNT2 CCBE1 CEP120 CTSK EFNB1 ERF FGFR1 FGFR2 FGFR3 GTF2E2 H4C9 IL11RA MASP1 MSX2 P4HB PIGO POLA1 POR RAB23 RECQL4 RNU12 SCUBE3 SEC24D SLC25A24 SMO SPECC1L TCF12 TWIST1 ZEB2 ZIC1 HP_CORONARY_ARTERY_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ANEURYSM ABCG5 ABCG8 APOB LDLR LDLRAP1 PCSK9 PRKG1 HP_CORONARY_ARTERY_ATHEROSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ATHEROSCLEROSIS ABCA1 ABCC6 ABCG5 ABCG8 ACTA2 APOA1 APOA2 APOB APOE BRCC3 CELA2A CEP19 CYP27A1 CYP7A1 ELN EPHX2 ERCC6 ERCC8 ESR1 FBN1 FOXE3 GHR GPIHBP1 HEY2 LDLR LDLRAP1 LIPC LMNA LOX LRP6 MAT2A MEF2A MFAP5 MYH11 MYLK PCSK9 PNPLA2 PPARG PPP1R17 PRKG1 SERPIND1 SMAD2 SMAD3 SMAD4 SMPD1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 XYLT1 XYLT2 ZNF687 HP_CORONARY_ARTERY_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_STENOSIS ABCA1 DYRK1B ELN MLXIPL PNPLA2 YY1AP1 HP_CORPUS_CALLOSUM_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORPUS_CALLOSUM_ATROPHY AIMP1 ALDH18A1 ATP8A2 BCAP31 CACNA1E CLN5 CPSF3 CSF1R DNM1L EIF2B4 EMC1 FA2H FAR1 GBA2 GFM2 HSD17B4 IRF2BPL L2HGDH LMNB1 MAG MAN2B1 MDH2 NDUFA8 OPA1 PEX16 POLR3K SLITRK2 STUB1 TTC5 VPS41 HP_CORTICAL_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_CATARACT BFSP1 COL18A1 CRYGS KIAA1549 MIP NF2 OCRL OPA3 PAK2 PANK4 ZNF408 HP_CORTICAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_DYSPLASIA ADGRG1 ADGRV1 AKT3 ARHGAP31 ASNS ASPM ATP6V0A1 B4GAT1 CNTNAP2 COL3A1 COL4A1 COPB2 CUL4B DDX3X DEPDC5 DLL1 DYNC1H1 FGFR1 FIG4 GABRD GABRG2 HCN1 HSD17B4 IFNG KIF2A KIF5C MTOR NEDD4L NPRL2 NPRL3 NUP133 PIK3CA POMT1 PTEN RTTN SCN1A SCN1B SCN2A SCN9A SCO2 SIN3A SIN3B SLC12A2 SLC35A2 SNAP29 STX1B TSC1 TSC2 TUBB TUBB2A TUBB2B TUBB3 VPS37A YY1 HP_CORTICAL_MYOCLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_MYOCLONUS CASR GNA11 PGM3 RAPGEF2 TNRC6A HP_CORTICAL_SCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_SCLEROSIS CLCN7 PLEKHM1 SLC4A2 SOST TCIRG1 HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES COL1A1 FAM111A MAN2B1 TBCE TGFB1 HP_CORTICOSPINAL_TRACT_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICOSPINAL_TRACT_HYPOPLASIA DEAF1 FLII IQSEC2 L1CAM PDHB RAI1 HP_COR_PULMONALE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COR_PULMONALE ACTA1 BTK CFTR FCGR2A FLNA HACD1 ITGA7 MAP3K20 MYL2 SELENON SREBF1 TGFB1 TPM2 TPM3 HP_COUGH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COUGH ABCA3 ACAT1 AGR2 ARL2BP ATL1 ATL3 ATP11A BAP1 BCOR BLNK BMPR2 BTNL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD79A CD79B CFAP221 CFAP298 CFAP300 CFAP52 CFAP74 CFTR CLEC7A COL4A5 COL4A6 COPA CRLF1 CSF2RA CSF2RB CTLA4 CYBB DLEC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNASE1L3 DPP9 DRC1 DSP EIF2AK4 EPOR FAM13A FARSA FARSB FIP1L1 FOCAD FOXJ1 GAS2L2 GAS8 GBA1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HYDIN IGHM IGLL1 IKZF1 IL17F IL17RA IL17RC IL2RG IL6ST IRF2BP2 IRF4 LPIN2 LRRC56 LRRC8A MARS1 MCIDAS MPZ MT-CYB MUC5B NABP1 NEK10 NKX2-1 NME5 NME8 NOS1 NPM1 NUMA1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 P4HA2 PANK2 PARN PIK3R1 PML PMP22 POMT1 PRIM1 PRKAR1A PRTN3 PTPN22 RARA RELB RFC1 RNF6 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 SCNN1A SCNN1B SCNN1G SERPINA1 SFTPA1 SFTPA2 SFTPC SLC11A1 SLC34A2 SLC39A7 SLC41A1 SP110 SPAG1 SPEF2 SPI1 SPTLC1 SPTLC2 STAT1 STAT3 STAT5B STK36 STN1 TBL1XR1 TCF3 TERC TERT TFG TGFBR2 TRAF3IP2 TSC1 TSC2 TTC12 WWOX ZBTB16 ZMYND10 HP_COXA_VALGA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VALGA ABCC9 ADAMTS2 ADAMTSL2 AFF3 ARCN1 ARID1B ATP7A ATRX B3GALT6 B4GALT7 BCR BGN CANT1 CBFB CCDC47 COG1 COG4 COG8 COL11A1 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 CRKL CSGALNACT1 DLK1 DVL1 DVL3 EED EIF2AK3 ENPP1 ERCC6 EXT1 EXT2 EXTL3 EZH2 FLNA FUCA1 FZD2 GALNS GJB2 GJB6 GLB1 GLI3 GNPTAB GTF2E2 HNRNPH1 HNRNPK HNRNPR HSPG2 IDUA IFIH1 INPP5K KCNJ8 KDELR2 LMNA LMX1B MAN2B1 MAPK1 MEG3 MGAT2 NFIX NGLY1 NRCAM ORC1 OTUD5 PDE4D POP1 RAB23 RBM8A RPS6KA3 RTL1 SHOX SIL1 SLC10A7 SLC12A2 SLC2A10 SLC35A2 SLC35B2 STXBP1 TGFB1 TGFB3 TRIP11 UBE3C UFC1 WNT5A XYLT1 ZMPSTE24 HP_COXA_VARA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VARA ADAMTS2 ADAMTSL2 AIFM1 ATP6V0A2 ATP7A CANT1 CCN6 CFAP410 COL10A1 COL1A1 COL1A2 COL27A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CRTAP CSGALNACT1 DDRGK1 DMP1 DNAJC21 DVL1 DVL3 DYM ENPP1 EXT1 EXT2 FKBP10 FLNB FN1 FZD2 HSPG2 IHH KDELR2 MATN3 MEGF8 MMP13 NFIX NKX3-2 ORC6 PCNT PCYT1A PEX5 POP1 PRG4 RAD21 RMRP RNU4ATAC RPL13 RSPRY1 RUNX2 SBDS SERPINF1 SLC26A2 SLC2A10 SRP54 TBX4 TCIRG1 TONSL TRAPPC2 TRPV4 UFSP2 WNT5A XYLT1 HP_CRACKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRACKLES ABCA3 AGR2 ATP11A CFTR CSF2RA CSF2RB DPP9 DSP FAM13A HLA-DRB1 MUC5B NKX2-1 PARN RTEL1 RYR1 SCNN1A SCNN1B SCNN1G SFTPA1 SFTPA2 SFTPC STN1 TERC TERT HP_CRANIAL_ASYMMETRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_ASYMMETRY AKT3 CPLX1 CTBP1 FGFRL1 HRAS KRAS LETM1 MAF MTOR NRAS NSD2 PEX19 PIK3CA POLR3A PTCH1 RNF135 HP_CRANIAL_HYPEROSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_HYPEROSTOSIS AKT1 ALMS1 AMER1 ANKH CA2 COL1A1 COX4I2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FGFR1 FLNA GJA1 GNAS HNRNPA1 HNRNPA2B1 IDUA KRAS LRP4 LRP5 MAN2B1 NOTCH3 OSTM1 PIK3CA PRKAR1A PTDSS1 PTEN RPS6KA3 SLC29A3 SLC39A14 SMAD4 SOST SP7 TBXAS1 TCIRG1 THOC2 TNFRSF11A TNFRSF11B TNFSF11 VCP XPA XPC HP_CRANIAL_NERVE_COMPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_NERVE_COMPRESSION ATP1A2 ATRX BRAF CA2 CACNA1A CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CLCN7 COL4A1 DKK1 DLST DNMT3A EPAS1 FH HNRNPA1 HNRNPA2B1 KIF1B LRP4 MAX MDH2 MEN1 MTRFR NF1 NFU1 NR3C1 PLEKHM1 PRRT2 RET SCN1A SDHA SDHAF2 SDHB SDHC SDHD SH3TC2 SLC25A11 SNX10 TCIRG1 TGFB1 TMEM127 TMEM53 TNFRSF11A TNFSF11 TP53 USP48 USP8 VCP VHL HP_CRANIOFACIAL_ASYMMETRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_ASYMMETRY CPLX1 CTBP1 FGFRL1 LETM1 MAF NSD2 HP_CRANIOFACIAL_DISPROPORTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DISPROPORTION CA2 FIG4 IGF2 KCNA1 LMNA ZMPSTE24 HP_CRANIOFACIAL_DYSOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DYSOSTOSIS ALX4 EDNRA EFTUD2 FGFR2 IL11RA MSX2 POLR1C RPS26 SLC25A24 HP_CRANIOFACIAL_HYPEROSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_HYPEROSTOSIS AKT1 AMER1 ANKH DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FGFR1 FLNA GJA1 GNAS KRAS LRP4 LRP5 NOTCH3 PTDSS1 RPS6KA3 SLC29A3 SMAD4 SOST SP7 TBXAS1 TCIRG1 TNFRSF11A XPA XPC HP_CRANIOFACIAL_OSTEOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_OSTEOSCLEROSIS AMER1 ANKH AP1S2 CLCN7 CSF1R DVL1 FAM111A KL LRP5 PLEKHM1 SLC39A14 SOST TBCE TCIRG1 TGFB1 HP_CRANIOSYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOSYNOSTOSIS AARS1 AASS ADAMTS3 AHDC1 AKT1 ALPL ALX4 APC2 ARVCF ATP6V1B2 ATR ATRIP B3GALT6 B3GAT3 B3GLCT B4GALT7 BMP4 BPNT2 CARS1 CCBE1 CCNQ CDC45 CDC6 CDH11 CDKN1C CDT1 CENPE CENPJ CEP120 CEP152 CEP57 CHD5 CHST14 CHST3 CLCN7 COLEC10 COLEC11 COMT CTCF CTSK CWC27 CYP26B1 DMP1 DNA2 DNMT3A DONSON DPF2 DPH1 DPH2 DSE EFNB1 ENPP1 ERCC2 ERCC3 ERF ESCO2 EXOC8 EXTL3 FAT4 FBN1 FGFR1 FGFR2 FGFR3 FLNA FLNB GLI3 GLIS3 GMNN GNPTAB GP1BB GPC6 GTF2E2 GTF2H5 H4C9 HIRA HNRNPK HUWE1 IFT122 IFT140 IFT43 IFT52 IL11RA IL6ST IPO8 IRX5 JMJD1C KANSL1 KAT6A KPTN KRAS KRT14 KRT5 LIG4 LRP5 LTBP1 MAF MAN2B1 MAP3K7 MASP1 MED12 MEGF8 MID1 MPLKIP MSX2 MYH3 NFIA NFIX NSD1 NSUN2 NUP85 ORC1 ORC4 ORC6 OTUD5 P4HB PCNT PHEX PIGO PIGT PLK4 POLA1 POR PPP1CB PPP3CA PRIM1 PSAT1 PTEN RAB23 RAC3 RBBP8 RECQL4 RNF113A RNU12 RREB1 RSPRY1 RTTN SCARF2 SCUBE3 SEC24C SEC24D SETD1A SETD2 SH2B1 SKI SLC12A6 SLC25A24 SLC2A10 SLC35A2 SLC39A8 SMAD3 SMAD6 SMO SNX10 SON SPECC1L STAT3 TANC2 TARS1 TBC1D24 TBX1 TCF12 TCIRG1 TGFBR1 TGFBR2 TLK2 TMCO1 TNFSF11 TRAIP TWIST1 UFD1 WDR19 WDR35 YY1 ZEB2 ZIC1 ZNF699 HP_CROHN_S_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROHN_S_DISEASE BACH2 CARD10 CTLA4 CYBC1 FNIP1 GUCY2C IL10RA IL21 IL6 INAVA MEFV NOD2 PI4KA PSTPIP1 SYK HP_CROSSED_FUSED_RENAL_ECTOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROSSED_FUSED_RENAL_ECTOPIA APC CCNQ CDC42BPB CTU2 DACT1 DDX59 EBP KDM6A KMT2D LRP4 SALL4 WT1 HP_CRUMPLED_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_EAR FBN1 FBN2 LONP1 MESD TWIST1 HP_CRUMPLED_LONG_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_LONG_BONES COL1A1 COL1A2 CRTAP LRP5 P4HB SEC24D HP_CRYPTOPHTHALMOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOPHTHALMOS FRAS1 FREM1 FREM2 GRIP1 MAB21L2 TWIST2 HP_CRYPTORCHIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTORCHIDISM AARS1 ABCD4 ABL1 ACTA2 ACTB ACTG2 ADARB1 ADAT3 ADNP AEBP1 AFF4 AKR1C2 AKR1C4 ALDH18A1 ALDH1A2 ALG12 ALG8 ALKBH8 ALX4 AMH AMHR2 ANAPC1 ANK1 ANKLE2 ANKRD11 ANOS1 AP1S2 APC2 AR ARCN1 ARID1A ARID1B ARID2 ARL6 ARNT2 ARVCF ARX ASH1L ASXL3 ATAD3A ATN1 ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRX AUTS2 AXL B3GALNT2 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BDNF BICRA BIN1 BLM BMP4 BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRWD3 BUB1B BUD23 C2CD3 CAMK2A CAMSAP1 CARS1 CASZ1 CBL CC2D2A CCBE1 CCDC141 CCDC174 CCDC22 CCDC32 CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDK8 CDKN1C CDON CDT1 CEP120 CEP152 CEP19 CEP290 CFAP418 CHD4 CHD7 CHRM3 CHRNG CHST14 CILK1 CITED2 CKAP2L CLCN3 CLCN4 CLIP2 CLP1 COG1 COG5 COL3A1 COL4A1 COLEC10 COLEC11 COMT CPE CPLANE1 CPLX1 CREBBP CRPPA CSPP1 CTBP1 CTCF CUL4B CWC27 CYB5A CYP11A1 CYP17A1 CYP19A1 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DCC DDB2 DDX3X DDX3Y DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHODH DHX37 DIS3L2 DKC1 DLK1 DLL3 DLX4 DMRT3 DNAJC19 DNAJC21 DNAJC30 DNM2 DNMT3A DOK7 DPAGT1 DPF2 DPP9 DPYSL5 DSE DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP EED EFNB1 EHMT1 EIF2S3 EIF4H EIF5A ELN EMG1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 EVC EVC2 EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAT4 FBLN1 FBN1 FBXW7 FDFT1 FEZF1 FGD1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FKTN FLG FLI1 FLNA FLNB FLRT3 FLT4 FMR1 FRAS1 FREM2 FTO FUZ FXR1 FZD2 G6PC3 GABRD GALT GATA1 GATA4 GATA5 GATA6 GDF1 GFM2 GJA5 GK GLE1 GLI1 GLI2 GLI3 GMNN GMPPB GNB2 GNRH1 GNRHR GP1BB GPC3 GPC4 GPC6 GPR161 GRB10 GRIA2 GRIA3 GRIN2B GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H1-4 H19 H4C9 HBA1 HBA2 HDAC4 HDAC8 HERC2 HES7 HESX1 HIBCH HIRA HMGA2 HNF1B HNRNPH1 HNRNPK HNRNPR HOXD13 HPSE2 HRAS HS2ST1 HS6ST1 HSD17B3 HSD3B2 HSPG2 HUWE1 HYLS1 HYMAI IER3IP1 IFT172 IFT27 IFT74 IFT80 IGBP1 IGF2 IL17RD INPPL1 INSL3 IRF6 IRX5 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KCNAB2 KCNQ1 KCNQ1OT1 KDM1A KDM3B KDM5B KDM5C KDM6A KDM6B KDR KIAA0753 KIF21A KIF7 KISS1 KISS1R KLHL15 KMT2A KMT2D KMT2E KMT5B KRAS LARGE1 LAS1L LETM1 LFNG LHX1 LHX4 LIG4 LIMK1 LMBR1 LMNB2 LMOD1 LMX1B LONP1 LRIG2 LSS LUZP1 LZTFL1 LZTR1 MAD2L2 MADD MAF MAGEL2 MAMLD1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MBTPS2 MC2R MCM5 MCTP2 MECP2 MED11 MED12 MED13L MEG3 MEGF8 MESP2 METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MPLKIP MRAP MRAS MRPS28 MTM1 MTMR14 MTOR MUSK MYF6 MYH11 MYH3 MYL11 MYLK MYMK MYOD1 MYRF NAA10 NAF1 NALCN NCF1 NDN NDNF NDP NDUFB7 NEDD4L NELFA NF1 NFIB NFIX NHLH2 NIPBL NKAP NKX2-5 NKX2-6 NNT NONO NOTCH2 NOTCH3 NPAP1 NPHP1 NR0B1 NR5A1 NRAS NSD1 NSD2 NSMF NSUN2 NUP88 NXN OCA2 OCRL ODC1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTUD6B OTX2 PACS1 PACS2 PAICS PALB2 PAX2 PAX6 PAX7 PBX1 PDE4D PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHF6 PHF8 PHGDH PHIP PIEZO2 PIGG PIGN PIGS PIK3C2A PLAG1 PLAGL1 PLVAP PNPLA6 POLA1 POLD1 POLE POLR1B POLR1C POLR1D POLR3A POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU3F3 PPFIBP1 PPP1CB PPP1R12A PPP1R15B PRDM13 PRDM16 PRIM1 PRKACA PRKACB PRKAR1A PRKCZ PRMT7 PROK2 PROKR2 PRPS1 PSMC1 PSMD12 PTCH1 PTCH2 PTDSS1 PTPN11 PTPRF PWAR1 PWRN1 PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RASA2 RBM10 RBMY1A1 RECQL4 RERE RFC2 RFWD3 RIN2 RIPK4 RIPPLY2 RIT1 RLIM RNF113A RNF135 RNU4ATAC ROBO1 ROR2 RORA RPGRIP1 RPGRIP1L RPL10 RRAS RRAS2 RREB1 RSPO2 RTL1 RTTN RXYLT1 RYR1 SALL1 SAMD9 SATB2 SCAPER SCLT1 SCYL2 SDCCAG8 SEC23A SEC24C SEMA3A SEMA3E SETBP1 SETD2 SETD5 SGPL1 SHOC2 SIAH1 SIM1 SIN3A SIX6 SKI SLC16A2 SLC18A3 SLC19A2 SLC25A24 SLC26A2 SLC35D1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMOC1 SMS SNORD115-1 SNORD116-1 SNRPN SOS1 SOS2 SOX10 SOX11 SOX2 SOX3 SOX4 SOX9 SPECC1L SPEN SPRED2 SPRY4 SRA1 SRCAP SRD5A2 SRY STAC3 STAG1 STAR STRA6 STS STT3A STT3B STX1A STXBP1 SUFU SUZ12 SYNE1 TAC3 TACR3 TAF6 TARS1 TASP1 TBC1D20 TBCE TBCK TBL1XR1 TBL2 TBX1 TBX22 TBX3 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TDRD9 TFAP2A TGDS THOC2 TIAM1 TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMEM94 TNRC6B TOE1 TOGARAM1 TOPORS TP63 TPM2 TRIM32 TRIP4 TRPM3 TRRAP TSPY1 TSPYL1 TSR2 TTC5 TTC8 TUBA1A TUBB TWIST1 TWIST2 TXNDC15 TXNRD2 UBA1 UBE2A UBE2T UBE4B UBR1 UBR7 UFD1 UQCC2 USP7 USP9Y VAC14 VAMP7 VANGL1 VPS13B VPS35L VPS37D VPS50 WDPCP WDR11 WDR35 WDR37 WDR62 WNT3 WNT5A WNT7A WNT7B WT1 WWOX XPA XPC XRCC2 XRCC4 XYLT2 YY1 ZBTB20 ZEB2 ZFPM2 ZMIZ1 ZMYM2 ZNF699 ZSWIM6 HP_CRYPTOZOOSPERMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOZOOSPERMIA CATIP MEIOB NR5A1 SYCP2 TDRD9 TEX15 HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS ADAR ATP1A2 CACNA1A IFIH1 IRF3 LSM11 PRRT2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN1A TBK1 TICAM1 TLR3 TRAF3 TREX1 UNC93B1 HP_CSF_PLEOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_PLEOCYTOSIS ADAR ATP1A2 CACNA1A IFIH1 IRF3 LSM11 NOTCH2NLC PRF1 PRRT2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN1A SLC13A3 STX11 STXBP2 TBK1 TICAM1 TLR3 TRAF3 TREX1 UNC13D UNC93B1 HP_CUBITUS_VALGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUBITUS_VALGUS ASPH BCOR BPTF BRAF CBL CHST3 CLCF1 CUL4B DYNC2LI1 EVC EVC2 FGF9 GJA1 GLI1 HEATR3 IL6ST KDM5C KRAS LARS2 LMBRD2 LMX1B LZTR1 MAP2K1 MAP2K2 MAPK1 NF1 NOG NUP107 PEX1 PEX2 PEX5 POP1 POR PRKACA PRKACB PRMT7 PSMD12 PTH1R PTPN11 RAF1 RSPRY1 SFRP4 SHOC2 SHOX SIL1 SOS1 SPRED2 SRY TUBB3 VPS13B WDR11 WNT4 HP_CUPPED_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_EAR ADNP AFF4 ASXL2 BCL11A BCOR BRWD3 CHD4 CHD5 CHD7 CSNK2A1 CTCF DACT1 DDX11 DHCR24 DHODH DNAJC21 ECE1 EDNRA EIF5A EYA1 FBXW11 FGF10 FGFR2 FGFR3 FIG4 FOXL2 FRAS1 GNAI3 HUWE1 IGBP1 IPO8 KCTD1 KDM6A MBD5 MED12 ODC1 PAX1 PGAP2 PGAP3 PIEZO1 PIGL PIGN PIGO PIGV PIGW PIGY PLXNA1 POU3F3 PQBP1 PRR12 QRICH1 RIPK4 SCNM1 SIN3A SIX1 SMS SPTBN1 SUPT16H TBX2 TCF4 TWIST1 WLS ZEB2 ZNF292 ZNF462 HP_CUPPED_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_RIBS ADA AIFM1 B3GALT6 BGN CFAP410 COL10A1 COL11A1 COL11A2 COL2A1 DDR2 DLK1 DNAJC21 EFL1 GPX4 IHH INPPL1 MATN3 MEG3 MMP13 PCYT1A RTL1 SBDS SLC35D1 SRP54 TRPV4 UBA1 HP_CURLY_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_EYELASHES ABCC9 BRD4 DVL1 DVL3 FZD2 HDAC8 KCNJ8 NIPBL RAD21 SMARCA2 SMC1A SMC3 ST14 STAG2 WNT5A HP_CURLY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_HAIR AFF4 BRAF CCDC47 CDK13 CERT1 DPYSL5 EFNB1 GAN GJA1 GNB2 H4C5 HNRNPH2 HRAS JUP KRAS KRT25 LZTR1 MAP2K1 MAP2K2 MTOR NRAS PPP1CB RAF1 RIPK4 RIT1 SHOC2 SKIC3 SON SOS1 SOS2 SPRED2 ST14 TCHH TMEM147 USP9X HP_CURVILINEAR_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURVILINEAR_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL CLN3 CLN5 CLN6 CLN8 DNAJC5 NDRG1 TPP1 HP_CUTANEOUS_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ABSCESS BTK CARMIL2 CTSC CYBC1 ELANE ELF4 G6PC3 GJB2 GJB6 IKBKB IKZF3 IL10RA IL10RB IL17RA IL6R IL6ST LCP2 MNX1 MPEG1 OTULIN PGM3 PSEN1 PSENEN RIPK1 STAT3 TGFB1 UBE2A ZNF341 HP_CUTANEOUS_AMYLOIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_AMYLOIDOSIS B2M IL31RA NLRP1 POLA1 RET HP_CUTANEOUS_ANERGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ANERGY CIITA EPG5 JAK3 RFX5 RFXANK RFXAP HP_CUTANEOUS_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_CYST ALX3 ANTXR1 APC CDH1 CEP57 CTNND1 IFNG KRT16 KRT17 KRT5 KRT6A KRT6B MSX2 POFUT1 POGLUT1 PSENEN SYT1 TFAP2A TSC1 TSC2 VANGL1 ZSWIM6 HP_CUTANEOUS_FINGER_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_FINGER_SYNDACTYLY CACNA1C CCBE1 CDH11 CHSY1 CHUK DCHS1 FAT4 FGFR2 FRAS1 GJA1 GLI3 H4C9 HOXD13 IRF6 KAT6A KCTD1 LMBR1 LRP4 MEGF8 MYH3 NECTIN1 NECTIN4 NOG ORC1 PAX3 PIEZO2 PPP2R3C PTDSS1 ROR2 SETBP1 TP63 TWIST1 TWIST2 WDR19 HP_CUTANEOUS_MELANOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_MELANOMA BAP1 BRAF CDK4 CDKN2A COL17A1 COL7A1 CXCR4 ERCC3 HRAS MC1R MITF MMP1 NRAS OCA2 POLH STK11 WRN XPC HP_CUTANEOUS_PHOTOSENSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_PHOTOSENSITIVITY AARS1 ABCB6 ALAS2 BANK1 BLK BLM C4A C4B CARMIL2 CARS1 CLPX CLTRN COL7A1 CPOX CR2 CSTB CTLA4 CYBA CYBB CYBC1 DDB2 DDX6 DHCR7 DNASE1 EPM2A ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ETS1 FCGR2A FCGR2B FCGR3B FDFT1 FDPS FECH FERMT1 GATA1 GJA1 GJB3 GJB4 GPNMB GTF2E2 GTF2H5 HERC2 HLA-DRB1 IFIH1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KCTD1 KDSR KIAA0319L KRT1 KRT10 KRT14 KRT5 LIG4 LYST MAGEL2 MECP2 MKRN3 MPLKIP MVD MVK NBN NCF1 NCF2 NCF4 NHLRC1 NPAP1 NSUN2 PCNA PDCD1 PEPD PMVK POLH PPOX PRICKLE1 PTPN22 PWAR1 PWRN1 PXK RECQL RECQL4 RNF113A RORB SAMHD1 SCARB2 SLC17A9 SLC6A19 SNORD115-1 SNORD116-1 SPP1 STAT4 SYNGAP1 TARS1 TLR7 TNFAIP3 TNFSF4 TNIP1 TP63 TREX1 UBE2L3 UROD UROS UVSSA XPA XPC XRCC4 HP_CUTANEOUS_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY ANKRD11 ATP6V1B2 ATP9A BCOR BHLHA9 BICRA BLTP1 CACNA1C CAMTA1 CCBE1 CDH1 CDH11 CEP55 CHSY1 CHUK CKAP2L CREBBP CTNND1 DCHS1 DEAF1 DHCR7 DYRK1A EP300 FAT4 FGF16 FGF9 FGFR2 FIG4 FRAS1 FREM2 GABRA3 GJA1 GLI3 GRIP1 H4C9 HOXD13 IQCE IRF6 KAT6A KCTD1 KIF7 LMBR1 LRP4 MAP3K20 MCTP2 MECP2 MEGF8 MEIS2 MYH3 MYH8 NECTIN1 NECTIN4 NOG ORC1 PAX3 PIEZO2 PPP2R3C PRKD1 PTDSS1 RBM10 RFX7 ROR2 RPL10 SCARF2 SETBP1 SLC39A8 SMARCAD1 SMOC1 SVBP TBC1D24 TMEM94 TP63 TRRAP TWIST1 TWIST2 WDR19 XYLT1 HP_CUTANEOUS_SYNDACTYLY_OF_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY_OF_TOES ATP9A BCOR CACNA1C CAMTA1 CREBBP DEAF1 DHCR7 DYRK1A EP300 FAT4 FGF16 FGF9 GABRA3 GJA1 IQCE MAP3K20 MCTP2 MECP2 MYH8 NECTIN1 NECTIN4 NOG PRKD1 RPL10 SCARF2 SLC39A8 SMARCAD1 SMOC1 SVBP TP63 TRRAP HP_CUTIS_LAXA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_LAXA AARS1 ABCC6 ADAMTS2 AEBP1 ALDH18A1 ALG12 ALG8 ANTXR1 ASXL1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GAT3 B4GALT1 B4GALT7 BAZ1B BCL11B BCL7B BRAF BUD23 C1R CD96 CDK13 CEP55 CHST14 CHST3 CLIP2 COL3A1 CSPP1 DLK1 DNAJC30 DSE EBP EED EFEMP2 EIF4H ELN EXT1 EZH2 FBLN5 FBN1 FGF20 FGFR2 FGFR3 FIG4 FKBP14 FKBP6 FLNA FOXC1 GATA1 GGCX GNB2 GORAB GPX4 GSN GTF2I GTF2IRD1 GTF2IRD2 H1-4 HPGD HRAS IFT140 IFT43 IPO8 KIAA0586 KRAS LIMK1 LTBP1 LTBP4 LZTR1 MAN1B1 MAP2K1 MAP2K2 MEG3 MEGF8 METTL27 MLXIPL MRAS MRPS16 MRPS22 NAA10 NBAS NCF1 NDUFB10 NDUFB11 NEPRO NPR2 NSD1 OTUD5 PEX1 PITX2 PLOD1 PRMT7 PTDSS1 PTEN PYCR1 RAD21 RFC2 RIN2 RIT1 RPS6KA3 RTL1 SH3PXD2B SLC25A24 SLC2A10 SLC6A8 SLC7A7 SPINT2 SRD5A3 STX1A SUZ12 TBL2 TBX15 TGFB2 TMEM270 TRAF7 TRPS1 TWIST2 VAC14 VPS37D WDR19 WDR35 WDR37 WDR81 XYLT1 XYLT2 ZNF469 HP_CUTIS_MARMORATA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_MARMORATA ABCC9 ABL1 ACTA2 ADA2 ADAR AGXT AKT3 ARHGAP31 ARID1B ARL6IP6 BRD4 CAV1 CBS DDX11 DHCR7 DLL4 DOCK6 ELN EOGT FBN1 FOXE3 FTO GNA11 GUCY1A1 H4C3 HDAC8 HEATR3 HEY2 IFIH1 LARP7 LIG4 LOX LSM11 MAT2A MFAP5 MYD88 MYH11 MYLK NFIA NFIX NIPBL NOTCH1 NSUN2 PIK3CA POLA1 PRKG1 PTDSS1 PTEN RAD21 RBPJ RNASEH2A RNASEH2B RNASEH2C RNF113A RNU7-1 RPS6KA3 SAMHD1 SMAD2 SMAD3 SMAD4 SMC1A SMC3 SOX18 STAG1 STING1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TREX1 HP_CYANOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOSIS ABCA3 ABCC6 ACTC1 ACVRL1 ADAMTS19 ADAR AGRN AGXT AK9 CHAT CHRNA1 CHRNB1 CHRND CHRNE CITED2 COL13A1 COL1A1 COL5A1 COL5A2 CYB5A CYB5R3 DOK7 EIF2AK4 ELP1 ENG ENPP1 ETHE1 FUCA1 GABRA1 GABRG2 GATA4 GATA6 GRIK2 GTPBP3 HBA1 HBB HBG2 HLA-DRB1 HSD17B10 IFIH1 KCNQ2 KCNQ3 KLHL7 LMNA LRP4 LSM11 MMP21 MT-CYB MUSK MVK MYH6 MYO9A NDUFS4 NKX2-5 NKX2-6 NUP214 PAX3 PCDH19 PCK1 PLD1 PLXND1 PRKAG2 PRRT2 PSAT1 PUS3 RAPSN RBM10 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPS6KA3 SAMHD1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A SEPTIN9 SFTPB SFTPC SLC18A3 SLC25A1 SLC25A20 SLC25A3 SLC2A1 SLC34A2 SLC5A7 SNAP25 SYT2 TBX20 TCF4 TLL1 TMEM260 TREX1 TXNDC15 VAMP1 ZIC3 ZMPSTE24 HP_CYANOTIC_EPISODE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOTIC_EPISODE GABRA1 GABRG2 PCDH19 PSAT1 SCN1A SCN1B SCN2A SCN9A HP_CYCLOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYCLOPIA CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL OTX2 PLCH1 PRRX1 PTCH1 SHH SIX3 SMC1A STAG2 STIL SUFU TDGF1 TGIF1 ZIC2 HP_CYSTATHIONINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTATHIONINEMIA CTH LMBRD1 MMACHC MTHFR PRDX1 HP_CYSTIC_HYGROMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_HYGROMA BLTP1 BRAF CBL CDC42BPB CEP55 CHRNA1 CHRND CHRNG COL2A1 DLL3 DOK7 DONSON ESCO2 FLVCR2 FOXC2 FOXF1 HNRNPK IFT43 KIF21A KRAS LAMA5 LBR LZTR1 MAP2K1 MCTP2 MESP2 MRAS MUSK MYOD1 NRAS NUP88 PIGS PLXND1 PTPN11 RAF1 RAPSN RASA2 RIT1 RRAS RRAS2 SLC18A3 SLC26A2 SOS1 SOS2 SPRED2 TGDS TMEM216 TRAF7 TRIP11 TUBA1A WDR35 HP_CYSTIC_LIVER_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_LIVER_DISEASE ALG5 ALG8 ALG9 B9D1 B9D2 BICC1 CC2D2A CEP290 CSPP1 DNAJB11 EXTL3 GANAB IFNG IFT122 IFT140 JAK1 LRP5 MKS1 NEK8 NPHP3 OFD1 PKD1 PKD2 PKHD1 PRKCSH RPGRIP1 RPGRIP1L SEC63 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TSC1 TSC2 TTC21B TXNDC15 WDR19 HP_CYSTIC_RENAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_RENAL_DYSPLASIA BBS12 BICC1 BMPER CPT2 JAM3 MKS1 NEK8 TBC1D24 HP_CYSTINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTINURIA AASS CAMKMT PPM1B PREPL SLC3A1 SLC7A9 HP_CYSTOID_MACULAR_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTOID_MACULAR_EDEMA ARHGEF18 ARL3 CYP4V2 DHDDS HLA-A IDH3A KIAA1549 KLHL7 MFRP NOD2 PDE6G POMGNT1 PRPF8 PRPH2 RDH5 REEP6 RHO RLBP1 RP1L1 HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS AARS2 BRAT1 COA3 COA8 COX10 COX6A2 COX6B1 DGUOK ETHE1 GTPBP3 LRPPRC MIEF2 MRPL44 MT-TE MT-TN MT-TS1 NDUFA4 POLG POLG2 PUS1 RNASEH1 RRM2B SLC25A4 SLC25A42 SURF1 TACO1 TK2 TRMT5 TRMU TWNK TYMP YARS2 HP_DACRYOCYSTITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DACRYOCYSTITIS BTNL2 FGFR2 HLA-DRB1 IGSF3 LEMD3 PRMT7 SATB2 TP63 HP_DARK_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DARK_URINE AKR1D1 ATP11C CPOX HMBS IRAK1 LPIN1 MT-CO1 MT-CO3 OBSCN PYGM SAT1 SPP1 STAT4 TTC26 HP_DEATH_IN_ADOLESCENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADOLESCENCE ACTN2 COX8A DSP ERCC4 EXOC8 FGA FGB FGG FHL1 GFAP IL6ST MADD MALT1 MDFIC MFSD2A OAS1 PET100 PEX2 PSMB8 SATB1 SLC25A22 SOST TPI1 HP_DEATH_IN_ADULTHOOD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADULTHOOD ACTB APP BAZ1B BCL7B BCS1L BUD23 CLIP2 CST3 DNAJC30 DSP EIF4H ELN EPCAM FAN1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KRAS LAMC2 LIMK1 METTL27 MLH1 MLH3 MLXIPL MSH2 MSH6 MYH6 MYH7 NCF1 PIK3CA PMS1 PMS2 POLG POLR3A POLR3B RFC2 RPS6KA3 SCN4A SLC9A6 STX1A TBL2 TGFBR2 TMEM270 TNNI3 TYMP VPS37D VPS4A ZMPSTE24 HP_DEATH_IN_CHILDHOOD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_CHILDHOOD AARS2 ABAT ABCB11 ACAD9 ACTA1 ACTL6B ADCY5 ALG11 AP1S1 ARHGEF9 ATG7 ATP1A2 ATP5MK ATP7A ATPAF2 C18orf32 C2orf69 CAD CAMSAP1 CD3G CLCN3 COX5A CRPPA DLD DPH1 DTYMK EFL1 ELAC2 ELOVL4 ERCC1 ERCC2 ERCC6 EXOSC8 FADD FARS2 FCHO1 FGA FGB FGG FKRP FTO GAD1 GFAP GFM2 GNPTAB HEXB HMGCL JPH2 KARS1 KRT5 LAMA3 LAMB2 LAT LTBP4 LYRM7 MADD MBTPS2 MFF MFSD2A MPI MRM2 MRPL3 MT-TN MT-TS1 MTX2 NADK2 NAXD NAXE NDUFB8 NDUFS7 NDUFV1 NEB NFIX NHLRC2 NPC2 NUP214 OAS1 OGDH PAM16 PET100 PEX1 PEX2 PEX5 PIGY PLCB3 PMM2 POT1 PPCS PQBP1 PRPS1 PTPRC RAB27A RARS2 RINT1 RMND1 RNASEH2A RNASEH2C RNU4ATAC SCN1B SCYL2 SEC31A SERPINH1 SLC17A5 SLC25A22 SLC33A1 SLC52A3 SMARCD2 SMN1 SNAP29 STT3B SUCLG1 SURF1 TIMMDC1 TK2 TMEM70 TNFRSF11A TPP2 TSEN2 TSEN54 TSFM TTC7A UBR1 VPS33A VPS50 WT1 ZNFX1 HP_DEATH_IN_INFANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_INFANCY AARS2 ABCA12 ABCA3 ACAD9 ACADVL ACOX1 ACTA1 ACTG2 ADCY6 AFF3 AIMP1 AIMP2 ALG1 ALG14 ALG8 ALPL AMT ANTXR2 AP1S1 ARX ASCL1 ASXL3 ATP1A2 ATP6AP1 ATRX BMPR1B BOLA3 BRAT1 C2orf69 CCDC22 CD3G CD96 CDC40 CDK5 CDON CLCF1 CNTN1 COASY COG6 COG7 COX10 COX11 COX16 COX5A CPT2 CRIPT CRLF1 CRLS1 CRPPA CRTAP CRYAB DCX DHCR7 DLL3 DNM1L DNM2 DOLK DPH1 DPH5 DPM2 DPYSL5 DYNLT2B ECHS1 EFL1 ELAC2 EMG1 EPCAM EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ETHE1 EXTL3 FAM111A FAM20C FAN1 FANCB FARS2 FGA FGB FGFR3 FGG FLI1 FRAS1 FREM2 FXR1 GATC GBA1 GDF5 GFAP GLB1 GLDC GPC3 GPC4 GPR161 GRIP1 GRM7 HADHB HDAC6 HESX1 HSPG2 HTRA2 IDUA IKBKB ITGB4 ITPA JAM3 JPH2 KIF20A KLHL40 KRAS KRT5 LAMA3 LAMB3 LAMC2 LAT LHX4 LIFR LIPA LIPT1 LIPT2 LMNA LMOD1 LMOD3 LRPPRC LTBP4 LTC4S MADD MBTPS2 MESP2 MLH1 MLH3 MPDU1 MRPL44 MRPS22 MRPS34 MSH2 MSH6 MYH11 MYL1 MYL2 MYLK MYO5B NADK2 NADSYN1 NDUFA2 NDUFAF3 NDUFS4 NDUFV2 NEB NFS1 NFU1 NPC2 NR1H4 NRAS NSF NUP214 NXN OAS1 OCRL ORAI1 ORC1 PAM16 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PIGA PIGB PIGY PIK3CA PLEC PLVAP PLXND1 PMM2 PMS1 PMS2 POMT2 PPCS PPIL1 PQBP1 PROKR2 PRPS1 PSAP PSAT1 PTF1A QRSL1 RAD51C RBM8A RET REV3L RMND1 RNU4ATAC ROBO1 ROR2 RPL3L SCN4A SCO2 SCYL2 SFTPB SIK1 SLC25A19 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SMARCD2 SMO SMOC1 SMPD4 SNRPB STAT2 STX3 SUCLG1 SUOX TFAM TGFBR2 TMEM260 TMEM70 TNFRSF11A TOR1A TPI1 TRIP11 TRMT10C TRMU TSEN2 TSEN54 TSFM TSPYL1 TTC7A TUFM UBR1 VIPAS39 VPS33B VPS35L WASHC5 WDR11 WT1 ZNFX1 HP_DECEREBRATE_RIGIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECEREBRATE_RIGIDITY ARSA ASPA GALC GLB1 PSAP HP_DECREASED_ABSENT_ANKLE_REFLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ABSENT_ANKLE_REFLEXES AARS1 ALDH18A1 ARL6IP1 ATP6AP2 ATXN3 CADM3 CCDC47 CRYAB DYSF GBE1 GJB1 GNB4 GNE HARS1 HINT1 HSPB3 KLC2 KLHL9 MFN2 MORC2 MRE11 NEFL OPA1 OPA3 PDK3 PEX10 PGM3 PLEKHG4 PMP2 POLG POLG2 RAB7A RAI1 REEP1 RRM2B SACS SIGMAR1 SLC25A4 SMN1 SMN2 SQSTM1 TOR1A TWNK VCP VPS13A WARS1 XK HP_DECREASED_ACHILLES_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACHILLES_REFLEX ADSS1 BICD2 CRYAB DYSF FBXO38 GDAP1 IBA57 LDB3 MTPAP PDK3 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_ATP_SYNTHASE_COMPLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_ATP_SYNTHASE_COMPLEX ATP5F1A ATP5F1D ATP5F1E ATPAF2 GFM1 MRPS14 MRPS16 MRPS22 MTRFR TIMM50 TK2 TMEM70 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I AARS2 ACAD9 AGK ATP5F1A BOLA3 C1QBP CARS2 CRLS1 DGUOK EARS2 ELAC2 FBXL4 FLAD1 FOXRED1 GATC GFM1 GTPBP3 IBA57 ISCA2 ISCU MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS22 MRPS23 MT-ND1 MT-ND2 MT-ND3 MT-TE MT-TL1 MTFMT MTRFR NARS2 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NSUN3 NUBPL POLG PTCD3 PUS1 QRSL1 RARS2 SCN4A SFXN4 SLC25A10 SLC25A26 SLC25A4 SUCLG1 TIMM22 TIMMDC1 TK2 TMEM126B TRIT1 TRMT5 TRMU TSFM TXN2 UQCC2 VARS2 YARS2 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II BOLA3 CHCHD10 FDX2 IBA57 ISCU MECR MIEF2 NFS1 NFU1 SDHA SDHB SDHD SLC39A8 UQCC2 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III AGK ATP5F1A BCS1L BOLA3 C1QBP CARS2 CHCHD10 CRLS1 CYC1 DGUOK EARS2 FBXL4 GATC GFM1 GFM2 ISCU LYRM7 MIEF2 MPV17 MRPS14 MRPS16 MRPS22 MT-TL1 MTO1 NDUFS4 NFS1 NSUN3 QRSL1 RARS2 SLC25A4 SUCLG1 TIMM22 TK2 TRMT5 TSFM TTC19 TXN2 UQCC2 UQCC3 UQCRB UQCRH UQCRQ YARS2 HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV AARS2 AGK AIFM1 ATP5F1A C1QBP CARS2 CHCHD10 COA3 COA5 COA6 COA8 COX16 COX20 COX4I1 COX5A COX6A2 CRLS1 DGUOK EARS2 FBXL4 FLAD1 GATC GFM1 GFM2 GTPBP3 ISCU LRPPRC MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS22 MRPS23 MRPS25 MTFMT MTRFR NARS2 NDUFA4 NSUN3 PET100 PET117 POLG PUS1 QRSL1 RARS2 RRM2B SCO2 SLC25A26 SLC25A4 SLC39A8 SUCLG1 TIMM22 TK2 TRIT1 TRMT5 TSFM UQCC2 VARS2 YARS2 HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX BOLA3 DLAT ECHS1 GLRX5 LIAS PDHA1 PDHB PDHX PDP1 SLC39A8 HP_DECREASED_ADENOSYLCOBALAMIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADENOSYLCOBALAMIN ABCD4 LMBRD1 MMAA MMAB MMACHC MMADHC PRDX1 HP_DECREASED_ADIPOSE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADIPOSE_TISSUE AARS1 AGPAT2 ATP6V1A ATP6V1E1 BLM BSCL2 CARS1 CAV1 CAVIN1 CIDEC ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 FBN1 FH FOS GNB2 GTF2E2 GTF2H5 H4C5 IGF1R INSR KCNJ6 KCNK9 LEMD2 LIPE LMNA LMNB2 MPLKIP NAA10 PIK3R1 PLIN1 POLD1 POLR3A PPARG PRIM1 PSMB8 PTF1A RBM28 RNF113A SKI SLC25A24 SLC2A2 SOX18 TARS1 TGFB1 TGFB3 TOP3A ZMPSTE24 HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS ATL1 ATL3 ATXN1 CCT5 DHX16 FXN GDAP1 HK1 HSPB8 LITAF LMNA MORC2 MPV17 NDRG1 NEFL RFC1 SBF2 SORD SPTLC1 SPTLC2 TRPV4 UQCRC1 VPS13A HP_DECREASED_BODY_MASS_INDEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_BODY_MASS_INDEX CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 HTT KCNN4 MIF SERPINA1 SLC11A1 SLC16A2 SLC25A13 SLC26A9 SLC2A3 SLC6A14 SLC9A3 STX1A TGFB1 HP_DECREASED_BODY_WEIGHT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_BODY_WEIGHT AARS1 AARS2 AASS ABCA12 ABCA3 ABCB11 ABCB4 ABCC6 ABCC8 ABCD1 ABCD4 ABL1 ACAD9 ACADM ACADS ACADVL ACAT1 ACD ACO2 ACOX1 ACSF3 ACSL5 ACTA1 ACTB ACTG1 ACTL6B ACVR1 ADA ADA2 ADAM17 ADAR ADAT3 ADCY5 ADH5 ADK ADNP AFF3 AGPAT2 AGPS AGR2 AGTPBP1 AGXT AHCY AHDC1 AIMP1 AK2 AKR1D1 AKT1 ALAD ALB ALDH18A1 ALDOB ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALOX12B ALOXE3 ALPL ALS2 AMACR AMER1 AMN AMPD2 ANAPC1 ANKLE2 ANKRD55 ANO1 ANOS1 ANTXR2 AP1B1 AP3B2 AQP2 AR ARCN1 ARFGEF2 ARHGAP31 ARID1B ARPC1B ARV1 ARVCF ARX ASAH1 ASCL1 ASH1L ASL ASNS ASS1 ASXL1 ASXL3 ATM ATP1A2 ATP1A3 ATP5F1A ATP5F1B ATP6AP1 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1E1 ATP7A ATP7B ATP8B1 ATP9A ATPAF2 ATR ATRIP ATRX ATXN7 AUH AUTS2 AVP AVPR2 B3GALT6 B3GLCT B4GALT1 B4GALT7 BANF1 BAP1 BAZ1B BCAP31 BCL10 BCL2 BCL6 BCL7B BCOR BCS1L BICRA BIRC3 BLM BLNK BMP1 BMP4 BMP6 BMPR1A BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BSND BTK BTNL2 BUB1B BUD23 C2orf69 C4A CA12 CA2 CACNA1A CACNA1B CACNA1S CACNA2D1 CAD CALR CAMK2B CAMKMT CARMIL2 CARS1 CARS2 CASK CASP8 CASR CASZ1 CAV1 CAVIN1 CBFB CBL CBS CCDC47 CCDC8 CCND1 CCNQ CCR1 CD19 CD244 CD247 CD3D CD3E CD3G CD40LG CD79A CD79B CD81 CD96 CDAN1 CDC45 CDC6 CDC73 CDH23 CDK10 CDK19 CDKL5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CDT1 CEACAM3 CEACAM6 CELF2 CENPE CENPJ CENPT CEP152 CEP57 CERS3 CFTR CHD7 CHEK2 CHRM3 CHRNA3 CHRNG CIC CIITA CIT CKAP2L CLCA4 CLCN3 CLCNKA CLCNKB CLDN16 CLIP2 CLMP CLTC CLTCL1 CNKSR2 CNOT1 CNTN1 CNTNAP1 COA8 COG1 COG4 COG6 COG7 COG8 COL12A1 COL1A1 COL1A2 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COL7A1 COMT COPB2 COQ7 CORIN COX10 COX20 COX4I1 COX4I2 COX5A COX7B CPLANE1 CPLX1 CPS1 CPSF3 CR2 CREB3L1 CREBBP CRIPT CRLF1 CRLS1 CSF2RA CSF2RB CSNK2A1 CSPP1 CTBP1 CTCF CTLA4 CTNNB1 CTNS CTRC CUBN CUL3 CUL4B CUL7 CYB5A CYB5R3 CYC1 CYFIP2 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP24A1 CYP27B1 CYP2R1 CYP7B1 DACT1 DALRD3 DAXX DCLRE1C DCTN1 DCTN4 DDB2 DDOST DDX3X DEAF1 DEF6 DEGS1 DGAT1 DGUOK DHCR24 DHCR7 DHDDS DIAPH1 DIS3L2 DISP1 DKC1 DLD DLK1 DLL1 DLL4 DLST DMPK DMXL2 DNA2 DNAJC13 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNASE2 DNM1 DNM1L DNM2 DNMT3A DNMT3B DOCK6 DOLK DPAGT1 DPM1 DPM2 DPP6 DPP9 DPYD DSG1 DSP DTYMK DUSP6 DYM DYNC2I1 DYNC2LI1 DYRK1A EARS2 EBP ECE1 EDN3 EDNRA EDNRB EEF1A2 EFL1 EGFR EHHADH EHMT1 EIF2AK3 EIF2S3 EIF4G1 EIF4H EIF5A ELAC2 ELF4 ELMO2 ELN EMG1 EN1 ENPP1 EOGT EP300 EPAS1 EPCAM EPG5 EPRS1 ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ESR2 ETHE1 EVC EVC2 EWSR1 EXOSC3 EXOSC8 EXOSC9 F5 FAH FAM111A FAM149B1 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FBN1 FBN2 FBXL4 FBXO28 FCGR2A FDFT1 FDXR FGD1 FGF12 FGF13 FGF17 FGF8 FGFR1 FGFRL1 FH FIG4 FIP1L1 FKBP6 FLCN FLI1 FLII FLNA FLT1 FMR1 FOCAD FOS FOXH1 FOXP1 FOXP3 FOXRED1 FTO FUCA1 FUS FUT8 FZD4 FZR1 G6PC3 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRD GABRG2 GALC GALE GALK1 GALM GALT GAS1 GATA1 GATA2 GATA4 GATA6 GATM GBA1 GBE1 GCDH GCK GCLC GDNF GFAP GGPS1 GHSR GIGYF2 GIPC1 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GK GLB1 GLI1 GLI2 GLUD1 GLYCTK GMNN GNAO1 GNB1 GNB2 GNPAT GNPTAB GNRH1 GNRHR GOLGA2 GOT2 GP1BB GPC3 GPD1 GPIHBP1 GPR161 GPR35 GPT2 GRB10 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2D GRM7 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUF1 GYS2 H19 H3-3B H4C5 HACD1 HADH HADHA HADHB HAVCR2 HBA1 HBA2 HBB HCCS HCFC1 HCN1 HDAC8 HEATR3 HERC1 HERC2 HESX1 HEXB HFE HIBCH HIKESHI HIRA HIVEP2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGA2 HMGCL HMOX1 HNF1A HNRNPH1 HNRNPH2 HNRNPK HPD HPDL HRAS HS6ST1 HSD11B2 HSD17B4 HSD3B2 HSD3B7 HSPG2 HTRA2 HTT HUWE1 HYMAI IARS1 ICOS IDH1 IFIH1 IFNG IFNGR1 IFT140 IGF1 IGF1R IGF2 IGHM IGHMBP2 IGLL1 IKBKB IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL6 IL7R INS INSR INTU IPO8 IQSEC2 IRF2BP2 IRF4 IRF6 IRF8 ITCH ITGA7 JAG1 JAGN1 JAK1 JAK2 JAK3 JMJD1C JPH3 KANSL1 KARS1 KAT6B KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNJ1 KCNJ11 KCNJ18 KCNJ6 KCNN4 KCNQ2 KCNT1 KDM5C KDM6A KDSR KIAA0586 KIAA0753 KIF15 KIF1B KIF22 KIF7 KISS1 KISS1R KIT KLF1 KLHL41 KLLN KLRC4 KMT2A KMT2C KMT2D KMT5B KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA2 LAMA3 LAMB3 LAMC2 LARP7 LARS1 LARS2 LAT LBR LCK LEMD3 LETM1 LGI3 LHX4 LIG3 LIG4 LIMK1 LINS1 LIPA LMBRD1 LMNA LMNB1 LONP1 LPIN2 LRBA LRP12 LRP5 LRPPRC LRRC8A LRRK1 LRRK2 LTC4S LUZP1 LYRM4 LYRM7 MAD2L2 MADD MAFB MAGEL2 MALT1 MAMLD1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPKAPK5 MARS1 MARS2 MAX MBL2 MBTPS1 MBTPS2 MC2R MCCC1 MCCC2 MCEE MCM4 MCM5 MCM9 MCTP2 MDH2 MECP2 MECR MED12 MED17 MEFV MEG3 MEGF10 MEN1 METTL27 METTL5 MGAT2 MICOS13 MIF MIPEP MITF MKKS MKRN3 MLH1 MLH3 MLX MLXIPL MMAA MMAB MMACHC MMADHC MMP23B MMUT MPDU1 MPI MPL MPV17 MRAP MRPL12 MRPL3 MRPS14 MRPS16 MRPS2 MRPS28 MRPS7 MS4A1 MSH2 MSH6 MSMO1 MST1 MSX1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTO1 MTR MTRFR MTRR MTTP MUSK MVK MYH3 MYH7 MYL11 MYL2 MYMK MYMX MYO5B MYOD1 MYPN NAB2 NABP1 NACC1 NADK2 NAGS NALCN NAT8L NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCF1 NDN NDP NDUFA1 NDUFA11 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEDD4L NELFA NEUROD2 NEUROG3 NEXMIF NF1 NFASC NFE2L2 NFIA NFIX NFKB1 NFKB2 NFKBIA NFKBIL1 NFU1 NGLY1 NHLH2 NHLRC2 NIPAL4 NIPBL NKX2-1 NKX3-2 NLRC4 NLRP1 NNT NOD2 NODAL NONO NOS1 NOTCH1 NOTCH2 NOTCH2NLC NPAP1 NPHS1 NPM1 NR0B1 NR1H4 NR3C2 NRCAM NRTN NSD2 NSDHL NSF NSMCE3 NSMF NSRP1 NSUN2 NSUN3 NTRK2 NUBPL NUDT2 NUMA1 NUP188 NUP214 NUP54 NUP62 NUP85 NUS1 OBSL1 OCA2 OCLN OCRL OFD1 OGDHL ORAI1 ORC1 ORC4 ORC6 OSGEP OTC OTUD5 OTUD6B OTULIN P4HA2 PACS1 PACS2 PALB2 PALLD PAM16 PANK2 PARN PARS2 PAX2 PBX1 PCCA PCCB PCGF2 PCLO PCNT PCSK1 PDE6D PDGFRB PDHA1 PDHB PDHX PDPN PDX1 PEPD PERCC1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGM3 PHGDH PHKA2 PHKG2 PHOX2B PIEZO2 PIGA PIGB PIGG PIGP PIGQ PIK3C2A PIK3CA PIK3CD PIK3R1 PKHD1 PKP1 PLAA PLAG1 PLAGL1 PLCB1 PLCH1 PLK4 PLP1 PML PMM2 PMPCB PMS1 PMS2 PNKP PNP PNPLA1 PNPLA6 PNPO PNPT1 POC1A POGZ POLA1 POLE POLG POLG2 POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POLR3K POMC POMP POR POU1F1 POU6F2 PPARG PPFIBP1 PPM1B PPP1CB PPP1R15B PPP2R3C PPP3CA PQBP1 PRDM16 PRDX1 PREPL PRF1 PRKACA PRKACB PRKAR1A PRKCD PRKCZ PRMT7 PRNP PROK2 PROKR2 PRPS1 PRTN3 PSAP PSAT1 PSMB10 PSMB4 PSMB8 PSMB9 PSMC1 PSMD12 PTCD3 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPN2 PTPN22 PTRH2 PTS PUF60 PUS1 PUS3 PUS7 PWAR1 PWRN1 PYCR1 PYCR2 PYGL RAB33B RAB3GAP1 RABL3 RAC2 RAD21 RAD51 RAD51C RAG1 RAG2 RAI1 RAPSN RARA RARB RARS2 RASGRP1 RB1 RBBP8 RBCK1 RBM10 RBPJ RECQL4 RELB RERE REST RET RFC2 RFT1 RFWD3 RFX5 RFXANK RFXAP RHBDF2 RILPL1 RIN2 RIPK1 RIT1 RMRP RNF13 RNF168 RNF2 RNU4ATAC RNU7-1 ROBO1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RRM2B RTEL1 RTL1 RTTN RUNX1 RYR1 RYR3 SALL1 SAMD9 SAR1B SARS1 SARS2 SATB1 SBDS SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCNN1A SCNN1B SCNN1G SCO1 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC31A SELENON SEMA3C SEMA3D SEMA4A SEMA4D SERAC1 SERPINA1 SETBP1 SETD2 SFTPB SFTPC SGO1 SH2B1 SH3TC2 SHH SHOC2 SHROOM4 SIGMAR1 SIK1 SIL1 SIM1 SIN3A SIX2 SIX3 SKI SKIC2 SKIC3 SLC10A2 SLC11A1 SLC12A1 SLC12A3 SLC12A5 SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A3 SLC22A4 SLC22A5 SLC25A11 SLC25A13 SLC25A15 SLC25A19 SLC25A21 SLC25A22 SLC25A24 SLC25A3 SLC25A4 SLC25A46 SLC26A2 SLC26A3 SLC26A9 SLC2A2 SLC2A3 SLC30A9 SLC32A1 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC39A13 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC46A1 SLC4A1 SLC51A SLC5A1 SLC6A14 SLC6A8 SLC7A7 SLC9A3 SLC9A6 SLX4 SMAD4 SMARCA2 SMARCAL1 SMARCC2 SMARCD2 SMC1A SMC3 SMO SMOC1 SMPD1 SNAP29 SNCA SNIP1 SNORD115-1 SNORD116-1 SNRPN SNX10 SON SOX9 SP110 SPATA5 SPEN SPG11 SPI1 SPINK1 SPINK5 SPOP SPR SPRTN SPRY4 SPTBN1 SPTLC1 SRCAP SRD5A3 SREBF1 SRP54 SRSF2 SSR4 ST3GAL5 STAG1 STAG2 STAMBP STAR STAT1 STAT3 STAT4 STAT5B STAT6 STIL STING1 STOX1 STRA6 STRADA STT3A STT3B STUB1 STX1A SUCLA2 SUCLG1 SUGCT SULT2B1 SURF1 SYK SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TAC3 TACR3 TAF13 TAFAZZIN TALDO1 TAOK1 TAPT1 TASP1 TBC1D23 TBC1D24 TBL1XR1 TBL2 TBR1 TBX1 TBX4 TCF3 TCF4 TCIRG1 TCN2 TCOF1 TCTN3 TDGF1 TERT TET2 TFAM TFRC TGDS TGFB1 TGFB3 TGFBR2 TGIF1 TGM1 THOC2 THPO THRB TIMM22 TIMM50 TIMMDC1 TINF2 TJP2 TK2 TKFC TLK2 TLL1 TLR4 TMEM106B TMEM126B TMEM127 TMEM165 TMEM216 TMEM270 TMEM70 TMPRSS15 TNFRSF11B TNFRSF13B TNFRSF13C TNFSF12 TNNT1 TNPO2 TOM1 TONSL TOP3A TOPORS TP53 TP63 TPI1 TPM2 TPM3 TRAC TRAIP TRAK1 TRAPPC2 TRIM28 TRIM37 TRIM8 TRIO TRIP13 TRIT1 TRMT1 TRMT10A TRMT10C TRMT5 TRPV4 TSHB TSHR TSR2 TTC26 TTN TTR TUBB4A TWIST2 TWNK TXNRD2 TYMP TYMS UBA2 UBA5 UBAC2 UBE2T UBE3B UBE4B UBR1 UBTF UFC1 UFD1 UMPS UNC45A UNC80 UPF3B UQCC2 UQCRC2 UQCRFS1 USF3 USP7 VAC14 VARS2 VDR VHL VIPAS39 VPS13A VPS13B VPS33B VPS35 VPS37A VPS37D VPS45 VPS51 VPS53 VRK1 WDR11 WDR26 WDR4 WDR62 WDR73 WNT2B WNT7B WRN WT1 WWOX XPA XPC XRCC2 XYLT2 YARS1 YARS2 YIPF5 YWHAG YY1 YY1AP1 ZAP70 ZBTB16 ZEB2 ZFP57 ZIC2 ZIC3 ZMPSTE24 ZNF335 ZNF668 ZNF699 ZNFX1 ZNRF3 ZSWIM6 HP_DECREASED_CALVARIAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CALVARIAL_OSSIFICATION ALPL COL1A1 COL1A2 CREB3L1 CRTAP FGFR2 FIG4 IFT43 INTU LAMA5 P3H1 PPIB PPP3CA SERPINH1 TXNDC15 WNT7A ZMPSTE24 HP_DECREASED_CD4_CD8_RATIO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CD4_CD8_RATIO AP3B1 CASP8 CTPS1 DEF6 GATA2 IL2RA IL2RB MAGT1 UNC119 WAS HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES EMD FHL1 LMNA PLEC SYNE1 SYNE2 TMEM43 HP_DECREASED_CERVICAL_SPINE_MOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_MOBILITY CCN6 FKRP FOXA2 GLI2 GMPPB HESX1 LARGE1 LHX3 LHX4 OTX2 POMT1 POMT2 POU1F1 PROP1 TRAPPC2 HP_DECREASED_CIRCULATING_ACTH_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ACTH_CONCENTRATION AIP AKT1 ARMC5 BAP1 CDH23 FOXA2 GLI2 GNAS HESX1 LHX3 LHX4 MEN1 NF2 NFKB2 OTX2 PDE11A PDGFB PIK3CA POU1F1 PRKAR1A PROP1 ROBO1 SMARCB1 SMARCE1 SMO SOX3 SUFU TERT TRAF7 HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL AAAS AIRE CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 HSD3B2 MC2R MRAP NNT NR0B1 NR3C1 NR3C2 SCNN1A SCNN1B SCNN1G STAR TXNRD2 HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION AKT1 ANOS1 B4GALNT1 BAP1 BMP6 CHD7 CPE CYB5A CYP11A1 CYP17A1 DCAF17 DHH DHX37 DMRT3 DMXL2 DUSP6 FANCM FEZF1 FGD1 FGF17 FGF8 FGFR1 FSHB GATA4 GCNA GNRH1 GNRHR HFE HS6ST1 HSD3B2 KISS1 KISS1R LEP LEPR LGR4 LHB MAP3K1 NDNF NF2 NFKB2 NHLH2 NR0B1 NR5A1 NSMF PDGFB PIK3CA POLA1 POR PROK2 PROKR2 RBM28 SEMA3A SLC39A4 SMARCB1 SMARCE1 SMO SOX9 SPRY4 SRY SUFU TAC3 TACR3 TERT TRAF7 VAMP7 WDR11 WT1 WWOX ZFPM2 HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL AARS1 ADA ADA2 ADAMTS3 AICDA AK2 ALG12 ARHGEF1 ATM ATP6AP1 ATP6AP2 B2M BACH2 BCL10 BLM BLNK BTK CARD11 CARMIL2 CARS1 CASP10 CASP8 CAVIN1 CCBE1 CCND1 CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD55 CD70 CD79A CD79B CD81 CDCA7 CIITA CISD2 CNBP COG6 CORO1A CR2 CSNK2A1 CTLA4 CTNNBL1 CTPS1 CXCR4 DCLRE1C DNMT3B DOCK8 EPG5 ERCC2 ERCC3 EXTL3 FAS FASLG FAT4 FLNA FNIP1 GTF2E2 GTF2H5 HELLS HLA-DQA1 HLA-DQB1 HYOU1 ICOS IFIH1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL21 IL21R IL2RA IL2RG IL6R IL6ST IPO8 IRF2BP2 ITCH ITK IVNS1ABP JAK3 KNSTRN KRT14 KRT5 LAMTOR2 LAT LCK LIG1 LRBA LRRC8A MAGT1 MALT1 MAN2B1 MGAT2 MOGS MPLKIP MS4A1 MSN MTHFD1 MTOR MYSM1 NAE1 NBN NFE2L2 NFKB1 NFKB2 NFKBIA NHEJ1 NHLRC2 OAS1 PIGT PIK3CD PIK3CG PIK3R1 PLCG2 PLVAP PMM2 POLE PRF1 PRIM1 PRKCD PTEN PTPRC RAC2 RAD50 RAG1 RAG2 RASGRP1 RBM8A REL RFX5 RFXANK RFXAP RIPK1 RMRP RNF113A RNF168 RNU4ATAC RPA1 RTEL1 SAMD9L SASH3 SH2D1A SH3KBP1 SIK3 SKIC2 SKIC3 SLC25A13 SLC35C1 SLC39A7 SLC46A1 SLC5A6 SLC7A7 SMARCAL1 SON SP110 SPI1 SPINK5 SPPL2A STAT2 STAT3 STX11 STXBP2 SYK TARS1 TCF3 TCN2 TFRC TIMM8A TLR8 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF9 TNFSF12 TOM1 TONSL TP53 TRMU TRNT1 TTC7A TYMS UNC13D UNG VPS33A WAS XIAP ZAP70 ZBTB24 ZEB2 ZNF341 HP_DECREASED_CIRCULATING_BETA_2_MICROGLOBULIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_BETA_2_MICROGLOBULIN_LEVEL B2M CIITA RFX5 RFXANK RFXAP HP_DECREASED_CIRCULATING_CERULOPLASMIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_CERULOPLASMIN_CONCENTRATION AP1B1 AP1S1 ATP7A ATP7B CCDC115 COG2 CP SLC33A1 TMEM199 HP_DECREASED_CIRCULATING_COMPLEMENT_C3_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_C3_CONCENTRATION BANK1 BLK C3 C4A C4B CD46 CFH CFHR1 CFHR3 CFI CR2 CTLA4 DNASE1 DNASE1L3 ETS1 FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L LMNB2 MECP2 PACS1 PDCD1 PRKCD PTPN22 PXK SAT1 SPP1 STAT4 THBD TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 HP_DECREASED_CIRCULATING_COMPLEMENT_C4_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_C4_CONCENTRATION BANK1 BLK C4A C4B CR2 CTLA4 DNASE1 DNASE1L3 ETS1 FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L MECP2 PDCD1 PRKCD PTPN22 PXK SAT1 SERPING1 SPP1 STAT4 TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_B_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_B_CONCENTRATION CFB CFH CFHR1 CFHR3 CFI HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_I_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COMPLEMENT_FACTOR_I_CONCENTRATION C1QA CFH CFHR1 CFHR3 CFI HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION AP1B1 AP1S1 ATP6AP1 ATP7A COG2 CP SLC33A1 TMPRSS6 HP_DECREASED_CIRCULATING_CORTISOL_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL AAAS ABCD1 AKT1 BAP1 CYP11A1 CYP11B1 CYP17A1 GATB GATC GLI3 HSD3B2 MC2R MRAP NF2 NFKB2 NNT NR0B1 PCSK1 PDGFB PIK3CA POMC POR QRSL1 ROBO1 SERPINA6 SMARCB1 SMARCE1 SMO STAR SUFU TBX19 TERT TRAF7 TXNRD2 HP_DECREASED_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION MC2R MRAP NNT POR PRKAR1A STAR TXNRD2 HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION AKT1 ANOS1 BAP1 CPE DMXL2 FEZF1 FSHB HESX1 KISS1 KISS1R LGR4 LHX3 LHX4 NF2 NHLH2 OTX2 PDGFB PIK3CA POU1F1 PRDM13 PROP1 ROBO1 SEMA3A SMARCB1 SMARCE1 SMO SUFU TAC3 TERT TRAF7 HP_DECREASED_CIRCULATING_FREE_T3 https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FREE_T3 MADD NKX2-5 POU1F1 SECISBP2 TRHR HP_DECREASED_CIRCULATING_FREE_T4_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FREE_T4_CONCENTRATION CPE IRS4 MADD NKX2-5 POU1F1 TBL1X HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION AKT1 ANOS1 BAP1 CPE DMXL2 FEZF1 FSHB GNRH1 HESX1 KISS1 KISS1R LGR4 LHB LHX3 LHX4 MAGEL2 NDN NF2 NHLH2 OCA2 OTX2 PDGFB PIK3CA PNPLA6 POU1F1 PRDM13 PROP1 ROBO1 SEMA3A SMARCB1 SMARCE1 SMO SNRPN SUFU TAC3 TERT TRAF7 HP_DECREASED_CIRCULATING_IGA_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGA_LEVEL ADA AICDA ALG12 ATM ATP6AP1 BACH2 BLM BLNK BTK CARD11 CASP8 CAVIN1 CD19 CD247 CD3D CD3E CD40 CD40LG CD79B CR2 CSNK2A1 CTLA4 DCLRE1C DNMT3B HLA-DQA1 HLA-DQB1 ICOS IGHG2 IGKC IGLL1 IKBKG IL2RA IL2RG IL6ST IPO8 IRF2BP2 ITCH IVNS1ABP JAK3 KNSTRN LCK LIG1 LRBA MOGS MTOR NFE2L2 NFKB2 NFKBIA PIGT PIK3CD PIK3CG PIK3R1 PLCG2 PMM2 PRIM1 PTPRC RAG1 RAG2 REL RNF168 SASH3 SPI1 STAT2 SYK TCF3 TCN2 TNFRSF11A TNFRSF13B TNFRSF13C TOM1 TYMS UNG ZBTB24 ZNF341 HP_DECREASED_CIRCULATING_IGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGE BACH2 BTK CD40 CD40LG IL2RG LCK TCF3 TOM1 HP_DECREASED_CIRCULATING_IGG2_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG2_LEVEL ADA ATM CD247 CD3G CTPS1 EPG5 PIK3CD SH3KBP1 HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL ADA ATM CD247 CD3G CR2 CTPS1 EPG5 IFIH1 PIK3CD RNF113A SH3KBP1 HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL AIRE CASR CYP24A1 GCM2 PTH SLC34A1 SLC34A3 TBCE TBX1 HP_DECREASED_CIRCULATING_RENIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_RENIN_LEVEL AVPR2 CACNA1D CYP11B1 CYP17A1 HSD11B2 KCNJ5 NR3C2 POR SCNN1A SCNN1B SCNN1G WNK1 HP_DECREASED_CIRCULATING_TERMINAL_COMPLEMENT_COMPONENT_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TERMINAL_COMPLEMENT_COMPONENT_CONCENTRATION C5 C6 C7 C8A C8B C9 HP_DECREASED_CIRCULATING_TOTAL_IGA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGA ATP6AP1 CD247 CD3D CD3E IVNS1ABP KNSTRN PIK3CD SYK HP_DECREASED_CIRCULATING_TOTAL_IGG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGG ATP6AP1 CD19 CD81 CR2 IVNS1ABP KNSTRN MS4A1 PIK3CD SYK HP_DECREASED_CIRCULATING_TOTAL_IGM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGM ADA ADA2 ALG12 ARHGEF1 ATP6AP1 BACH2 BLM BLNK BTK CARD11 CASP10 CASP8 CD19 CD79B CNBP CR2 CTLA4 DOCK8 EXTL3 FAS FASLG FNIP1 ICOS IGHG2 IGKC IGLL1 IKBKG IL2RG IL6R IL6ST IRF2BP2 IVNS1ABP JAK3 KNSTRN LAMTOR2 LCK LIG1 LRBA MOGS NAE1 NFKB2 NFKBIA PIGT PIK3CD PIK3CG PLCG2 POLE PRIM1 PRKCD PTPRC RAC2 RAG1 RAG2 RASGRP1 RNF168 SASH3 SH3KBP1 SIK3 SPI1 STAT2 SYK TCF3 TCN2 TNFRSF11A TNFRSF13B TNFRSF13C TOM1 TYMS WAS ZBTB24 HP_DECREASED_COMPOUND_MUSCLE_ACTION_POTENTIAL_AMPLITUDE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_COMPOUND_MUSCLE_ACTION_POTENTIAL_AMPLITUDE ALS2 BSCL2 CADM3 DNAJB6 EMILIN1 KARS1 PMP2 RAB7A SETX SIGMAR1 SYT2 UBA1 UQCRC1 VAMP1 HP_DECREASED_CORNEAL_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CORNEAL_SENSATION CHST6 FGF10 FGFR2 FGFR3 TGFBI HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL GDAP1 HK1 LITAF MORC2 MPV17 NEFL RFC1 SBF2 TRPV4 HP_DECREASED_DLCO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_DLCO ABCC6 COPA CSF2RA EIF2AK4 HLA-DRB1 MUC5B NDUFAF6 PARN RTEL1 SFTPA1 SFTPA2 SFTPC SMPD1 TERT TINF2 XYLT1 XYLT2 HP_DECREASED_EOSINOPHIL_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_EOSINOPHIL_COUNT ATRX BRAF CARD10 CDH23 ELANE NR3C1 TP53 USP48 USP8 HP_DECREASED_FACIAL_EXPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FACIAL_EXPRESSION ACTA1 ADH1C ASXL3 ATP13A2 ATP1A3 ATP6AP2 ATP6V1A ATP7A ATXN2 ATXN8OS BCL11B CC2D1A CCDC174 CERT1 CLTC CNTNAP1 COL25A1 DCTN1 DDHD2 DLK1 DMXL2 DNA2 DNAJC13 DNAJC6 DNMT3B DPM2 DUX4 DUX4L1 EBF3 EIF2AK2 EIF4G1 ERGIC1 FA2H FBXO7 FKRP FKTN FMR1 FRG1 FTL GBA1 GFM2 GIGYF2 GIPC1 GLE1 GLUD2 GMPPB GOSR2 HACD1 HLA-DQB1 HOXB1 HSPG2 ITGA7 ITPR1 JAM2 KCNH1 KCNJ6 KCNK9 KDM6A KLHL41 KMT2D KNSTRN LAMA2 LARGE1 LRP12 LRRK2 MAP3K20 MAPT MEG3 MRE11 MSTO1 MT-TT MYH2 MYH3 MYH7 MYL1 MYL2 MYMX NEB NOTCH2NLC NR4A2 OGDHL PABPN1 PANK2 PAX6 PDGFB PDGFRB PIEZO2 PIK3CD PLA2G6 PLAA PLXND1 PODXL POLG POLG2 POMT1 POMT2 PRDX3 PRNP PTRH2 PURA PYROXD1 REV3L RILPL1 RIPK4 RRM2B RTL1 RYR1 SCYL2 SELENON SGCB SLC16A2 SLC18A2 SLC20A2 SLC25A4 SLC30A10 SLC39A14 SLC52A3 SLC6A3 SLC6A8 SLC6A9 SLC9A7 SMCHD1 SNCA SNCAIP SPR SPTBN4 STAC3 SYNJ1 TAFAZZIN TANGO2 TBP TECPR2 TH TK2 TNNT1 TNPO2 TPM2 TPM3 TRIM32 TWNK TXNL4A UBA1 UBA5 UBE3A UFC1 VAMP1 VPS35 VPS41 HP_DECREASED_FERTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY ACTL9 ADGRG2 AGPAT2 AIP AK7 AKAP3 ALMS1 AMH AMHR2 ANOS1 APC2 AR ARMC2 ASTL AURKC AXL BLM BMP15 BMP6 BNC1 BPY2 BRAF BRCA1 BRCA2 BRDT BRIP1 BSCL2 BTG4 C11orf80 C14orf39 C2CD6 CATIP CATSPER1 CATSPER2 CCDC103 CCDC141 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCDC8 CCNO CDC14A CDC20 CDH23 CDY1 CDY2A CEP112 CEP19 CFAP221 CFAP251 CFAP298 CFAP300 CFAP43 CFAP44 CFAP47 CFAP52 CFAP58 CFAP65 CFAP70 CFAP74 CFTR CHD7 CHRM3 CLDN2 CT55 CTNS CUL7 CYB5A CYP11A1 CYP17A1 CYP19A1 DAZ1 DAZ2 DAZ3 DAZ4 DCC DDX3Y DHH DHX37 DMRT3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNALI1 DNHD1 DPY19L2 DRC1 DUSP6 DZIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO43 FCGR2A FEZF1 FGD1 FGF17 FGF8 FGFR1 FIGLA FKBP6 FLRT3 FOXA2 FOXJ1 FOXL2 FSHB FSHR FSIP2 GALT GAS2L2 GAS8 GATA4 GBA2 GCM2 GCNA GGN GGPS1 GLI2 GNAS GNRH1 GNRHR H6PD HERC2 HESX1 HFE HJV HLA-DQA1 HLA-DQB1 HS6ST1 HSD17B3 HSD3B2 HSF2BP HSFY1 HYDIN IFT74 IL17RD IQCN KCNU1 KDM5D KLHL10 KPNA7 LHCGR LHX4 LMNA LRRC56 M1AP MAD2L2 MAGEL2 MAP2K1 MAP3K1 MCIDAS MEI1 MEIOB MEN1 MKRN3 MNS1 MOS MOV10L1 MPLKIP MRPS22 MSH4 MSH5 NANOS1 NDN NDNF NEK10 NLRP2 NLRP5 NME5 NME8 NPAP1 NR0B1 NR3C1 NR5A1 NSD1 NUP107 OBSL1 OCA2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PADI6 PALB2 PANX1 PATL2 PDE11A PDHA2 PGR PLCZ1 PLIN1 PMFBP1 PNLDC1 PNPLA6 POF1B POLR3H POR POU1F1 PPP2R3C PRKAR1A PRLR PROK2 PROKR2 PROP1 PRY PRY2 PSMC3IP PTPN11 PWAR1 PWRN1 QRICH2 RAD51 RAD51C RAF1 RBMY1A1 REC114 RFWD3 RNF212 RNF216 RPGR RPL10L RPS4Y2 RSPH1 RSPH3 RSPH4A RSPH9 SEMA3A SEMA3E SEPTIN12 SETD2 SHOC1 SIM1 SLC26A8 SLC34A2 SLX4 SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPAG1 SPAG17 SPATA16 SPEF2 SPIDR SPINK2 SPRY4 SRA1 SRD5A2 SRY SSX1 STAG3 STK36 STRC STUB1 SUN5 SYCE1 SYCP2 SYCP3 TACR3 TBX3 TDRD9 TEKT3 TERB1 TERB2 TEX11 TEX14 TEX15 TGFB1 TLE6 TRIP13 TSGA10 TSPY1 TTC12 TTC21A TTC29 TUBB8 UBE2T USP26 USP9Y VAMP7 VCY WDR11 WDR19 WEE2 WRN WT1 WWOX XKRY XRCC2 ZFP36L2 ZFPM2 ZMYND10 ZMYND15 ZP1 ZP2 ZP3 ZPBP ZSWIM7 HP_DECREASED_FERTILITY_IN_FEMALES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_FEMALES AGPAT2 AIP ASTL BLM BSCL2 BTG4 C11orf80 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDC20 CDH23 CFAP221 CFAP298 CFAP300 CFAP74 CYB5A CYP17A1 CYP19A1 DHX37 DMRT3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FBXO43 FIGLA FOXJ1 FOXL2 GALT GAS2L2 GAS8 GATA4 GGPS1 HSF2BP HYDIN KPNA7 LRRC56 MAP3K1 MCIDAS MEI1 MEN1 MOS MSH4 MSH5 NEK10 NLRP2 NLRP5 NME5 NME8 NR0B1 NR5A1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PANX1 PATL2 PGR POF1B PRLR PSMC3IP REC114 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SOX9 SPAG1 SPEF2 SRY STK36 TLE6 TRIP13 TTC12 TUBB8 VAMP7 WEE2 WT1 WWOX ZFP36L2 ZFPM2 ZMYND10 ZP1 ZP2 ZP3 HP_DECREASED_FERTILITY_IN_MALES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_MALES ACTL9 ADGRG2 AIP AK7 AKAP3 ALMS1 AMH AMHR2 AR ARMC2 AURKC BLM BPY2 BRAF BRCA1 BRCA2 BRDT BRIP1 C14orf39 C2CD6 CATIP CATSPER1 CATSPER2 CCDC103 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCNO CDC14A CDH23 CDY1 CDY2A CEP112 CFAP221 CFAP251 CFAP298 CFAP300 CFAP43 CFAP44 CFAP47 CFAP52 CFAP58 CFAP65 CFAP70 CFAP74 CFTR CLDN2 CT55 CTNS CYB5A CYP17A1 CYP19A1 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DHX37 DMRT3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNALI1 DNHD1 DPY19L2 DRC1 DZIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO43 FCGR2A FKBP6 FOXJ1 FSIP2 GALT GAS2L2 GAS8 GATA4 GCM2 GCNA GGN HSD3B2 HSFY1 HYDIN IFT74 IQCN KCNU1 KDM5D KLHL10 LHCGR LRRC56 M1AP MAD2L2 MAP2K1 MAP3K1 MCIDAS MEIOB MEN1 MNS1 MOV10L1 MSH4 MSH5 NEK10 NME5 NME8 NR0B1 NR5A1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PALB2 PDE11A PDHA2 PLCZ1 PMFBP1 PNLDC1 PPP2R3C PRKAR1A PRY PRY2 PTPN11 QRICH2 RAD51 RAD51C RBMY1A1 RFWD3 RNF212 RPGR RPL10L RPS4Y2 RSPH1 RSPH3 RSPH4A RSPH9 SEPTIN12 SHOC1 SLC26A8 SLX4 SOHLH1 SOX9 SPAG1 SPAG17 SPATA16 SPEF2 SPINK2 SRY SSX1 STAG3 STK36 STRC SUN5 SYCE1 SYCP2 SYCP3 TDRD9 TEKT3 TERB1 TERB2 TEX11 TEX14 TEX15 TGFB1 TSGA10 TSPY1 TTC12 TTC21A TTC29 UBE2T USP26 USP9Y VAMP7 VCY WDR19 WT1 WWOX XKRY XRCC2 ZFPM2 ZMYND10 ZMYND15 ZPBP ZSWIM7 HP_DECREASED_GLOMERULAR_FILTRATION_RATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_GLOMERULAR_FILTRATION_RATE AGXT ALG5 ALG9 BICC1 BSND CASR CLCNKA CLCNKB CYB561 DNAJB11 G6PC1 GANAB HGD IFT140 ITGA3 MUC1 PAX2 PBX1 PKD1 PKD2 PUS3 SLC22A12 SLC2A9 SLC34A1 SLC37A4 SLC7A7 UMOD HP_DECREASED_HEAD_CIRCUMFERENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HEAD_CIRCUMFERENCE AAAS AARS1 AASS ABCA2 ACADS ACADSB ACADVL ACBD5 ACD ACE ACO2 ACSF3 ACSL4 ACTB ACTG1 ACTG2 ACTL6B ADA2 ADAM22 ADAMTSL1 ADAR ADARB1 ADAT3 ADD3 ADGRG1 ADH5 ADNP ADPRS ADSL AFF2 AFF3 AFF4 AGA AGGF1 AGT AGTPBP1 AGTR1 AHCY AHSG AIMP1 AIMP2 ALDH18A1 ALDH3A2 ALDH6A1 ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG9 ALS2 ALX4 AMFR AMPD2 ANK1 ANK3 ANKLE2 ANKRD11 ANKRD17 AP1S2 AP2M1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 ARCN1 ARFGEF2 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARNT2 ARPC4 ARSL ARV1 ARVCF ARX ASH1L ASNS ASPA ASPM ASXL1 ASXL3 ATM ATP10A ATP11A ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP5PO ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATPAF1 ATPAF2 ATR ATRIP ATRX AUH AUTS2 B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCAP31 BCAS3 BCL11A BCL7B BCOR BCR BDNF BICRA BLM BMP15 BMP4 BNC1 BPTF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BUB1 BUB1B BUB3 BUD23 C2CD3 C2orf69 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2A CAMK2B CAPN15 CARS1 CARS2 CASK CASZ1 CBL CC2D1A CC2D2A CCDC32 CCDC47 CCDC8 CCDC88A CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDK10 CDK13 CDK19 CDK5 CDK5RAP2 CDK6 CDKL5 CDON CDT1 CELF2 CENATAC CENPE CENPF CENPJ CENPT CEP135 CEP152 CEP290 CEP57 CEP63 CEP85L CERT1 CFC1 CHAMP1 CHD2 CHD7 CHD8 CHKA CHKB CHMP1A CHN1 CHRNA7 CHRNG CIT CKAP2L CLCN3 CLCN4 CLIP2 CLP1 CLPB CLPP CLTC CNKSR2 CNNM2 CNOT1 CNP CNTNAP1 COASY COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL18A1 COL4A1 COMT COPB1 COPB2 COQ9 COX11 COX15 COX7B COX8A CPLX1 CPSF3 CPT2 CREBBP CRIPT CRKL CRLS1 CRPPA CSNK2A1 CSPP1 CTBP1 CTCF CTNNA2 CTNNB1 CTNND2 CTSD CTU2 CUL3 CUL4B CWF19L1 CYB5A CYB5R3 CYFIP2 CYP26C1 DAG1 DALRD3 DCHS1 DCPS DCX DDB2 DDX11 DDX3X DDX59 DDX6 DEAF1 DEGS1 DENND5A DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHFR DHTKD1 DHX30 DHX37 DIAPH1 DISC1 DISP1 DKC1 DLAT DLD DLK1 DLL1 DLL3 DMXL2 DNA2 DNAAF4 DNAJC21 DNAJC30 DNM1 DNM1L DNMT3A DOCK6 DOHH DOLK DONSON DPAGT1 DPF2 DPH2 DPM1 DPM2 DPP6 DPYD DSG1 DSTYK DTYMK DYM DYNC1H1 DYNC1I2 DYRK1A EBF3 EDC3 EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EHMT1 EIF2AK2 EIF2AK3 EIF2B1 EIF2S3 EIF3F EIF4H EIF5A ELAC2 ELN ELOVL4 EMC1 EMG1 EN1 ENTPD1 EOMES EP300 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ESCO2 ESS2 EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAT4 FBLN5 FBN1 FBXL3 FBXL4 FBXO11 FBXO28 FBXW7 FDXR FGF12 FGF13 FGF8 FGFR1 FGFR3 FGFRL1 FH FIG4 FKBP6 FKRP FKTN FLCN FLII FLVCR2 FOXG1 FOXH1 FOXRED1 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FSHR FTO FUS FUT8 FZD4 FZR1 G6PC3 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GALK1 GALNT2 GAS1 GATA1 GATA4 GATA6 GBA1 GEMIN4 GET4 GFM1 GFM2 GINS1 GJA1 GJA5 GJA8 GJB3 GJB4 GLE1 GLI2 GLS GLYCTK GMNN GMPPA GMPPB GNAO1 GNB1 GNB5 GNPAT GOLGA2 GON7 GORAB GOT2 GP1BB GPKOW GPT2 GRIA2 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM7 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H3-3A H3-3B H4C3 H4C5 HAAO HACE1 HBA1 HBA2 HCCS HCFC1 HCN1 HDAC4 HDAC8 HEATR3 HES7 HHAT HIKESHI HIRA HIVEP2 HMGA2 HMGB3 HMGCL HNMT HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HPD HPDL HSD17B10 HSPD1 HSPG2 HTRA2 HUWE1 IARS1 IBA57 IER3IP1 IFIH1 IFT140 IFT74 IGF1 IGF1R IKBKG INPP5E INPP5K INSR INTS8 IPO8 IQSEC1 IQSEC2 ISCA1 ITGA3 ITGB6 ITPA JAM2 JAM3 JARID2 JMJD1C KANSL1 KARS1 KAT5 KAT6A KAT6B KATNB1 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNH1 KCNJ2 KCNJ6 KCNMA1 KCNN2 KCNQ2 KCNT1 KCTD7 KDM5C KDM6A KDSR KIF11 KIF14 KIF15 KIF1A KIF1C KIF2A KIF5A KIF5C KIFBP KIT KMT2A KMT2B KMT2C KMT2D KNL1 KYNU L1CAM LAGE3 LAMB2 LARGE1 LARP7 LARS1 LAS1L LDHD LEMD2 LEMD3 LETM1 LFNG LGI3 LIAS LIG4 LIMK1 LINGO1 LINS1 LIPT2 LMBRD2 LMNB1 LMNB2 LMX1B LONP1 LRP5 LRPPRC LSM11 LSS LTBP1 LTC4S LUZP1 MAB21L1 MACF1 MAD1L1 MAD2L2 MAFB MAP1B MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MARS1 MASP1 MBD5 MBOAT7 MBTPS2 MCM4 MCM7 MCOLN1 MCPH1 MCTP2 MDH1 MECP2 MED12 MED17 MED23 MED25 MED27 MEG3 MEIS2 MESD MESP2 METTL27 METTL5 MFF MFSD2A MGAT2 MGME1 MICOS13 MICU1 MID1 MINPP1 MIPEP MIR17HG MKS1 MLXIPL MMACHC MMP23B MOCS1 MOCS2 MORC2 MPC1 MPDU1 MPDZ MPLKIP MRPS22 MRPS25 MRPS28 MRPS34 MSH4 MSMO1 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MTFMT MTHFR MTHFS MTRR MTSS2 MVK MYCN MYH3 MYMK MYMX MYO18B MYORG MYSM1 NAA10 NACC1 NADK2 NAGS NALCN NANS NAPB NARS1 NARS2 NAT8L NBEA NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCF1 NDE1 NDP NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEK9 NELFA NEUROD2 NEXMIF NF1 NFASC NFIX NGLY1 NHEJ1 NHP2 NIN NIPA1 NIPA2 NIPBL NKX2-1 NKX3-2 NODAL NOP10 NR5A1 NRCAM NSD1 NSD2 NSDHL NSF NSMCE2 NSRP1 NSUN2 NSUN3 NTNG1 NTNG2 NTRK2 NUBPL NUP107 NUP133 NUP188 NUP214 NUP37 NUP85 NUS1 OCA2 OCLN OFD1 OGDHL OGT ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B P4HTM PACS1 PACS2 PAFAH1B1 PAH PAK3 PALB2 PAPPA2 PARN PARS2 PAX3 PAX6 PCDH12 PCDHGC4 PCGF2 PCLO PCNA PCNT PDCD6IP PDE2A PDGFB PDGFRB PDHA1 PDHX PDPN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHACTR1 PHC1 PHF6 PHF8 PHGDH PI4KA PIDD1 PIEZO2 PIGA PIGF PIGG PIGH PIGL PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3CD PIK3R1 PISD PLAA PLAG1 PLCB1 PLCH1 PLEKHG2 PLK4 PLP1 PLPBP PLXNA1 PMM2 PMPCB PNKP PNPLA6 PNPO POC1A POGZ POLA1 POLE POLG POLH POLR1A POLR1B POLR2A POLR3B POLR3GL POLR3H POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPFIBP1 PPP1R12A PPP1R15B PPP2CA PPP2R1A PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRIM1 PRKAR1B PRKCZ PRKD1 PRKDC PRMT7 PRORP PRR12 PRUNE1 PSAP PSAT1 PSMB1 PSMC1 PSMC3IP PSPH PTCH1 PTDSS1 PTEN PTF1A PTPN23 PTRH2 PTS PUF60 PURA PUS1 PUS3 PUS7 PYCR1 PYCR2 QARS1 QDPR QRICH1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD50 RAD51 RAD51C RAI1 RARS1 RARS2 RB1 RBBP8 RBM28 RBPJ RECQL RELN REN RERE RFC2 RFT1 RFWD3 RFX7 RHOBTB2 RIC1 RIPK4 RIPPLY2 RLIM RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF168 RNF2 RNPC3 RNU12 RNU4ATAC RNU7-1 ROGDI RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RRP7A RSPRY1 RSRC1 RTEL1 RTL1 RTTN RUSC2 RXYLT1 SALL1 SALL4 SAMD9L SAMHD1 SARS1 SASS6 SATB1 SATB2 SBF1 SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SELENOI SEMA3E SEMA5A SEPSECS SERAC1 SET SETD2 SF3B4 SGPL1 SHANK3 SHH SHMT2 SIGMAR1 SIK1 SIL1 SIN3A SIN3B SIX3 SIX6 SKI SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC18A2 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A46 SLC2A1 SLC30A10 SLC30A9 SLC32A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC38A3 SLC39A14 SLC5A6 SLC6A1 SLC6A8 SLC6A9 SLC9A6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMG8 SMG9 SMO SMPD4 SNAI2 SNAP29 SNRPB SNRPN SOX11 SOX2 SOX4 SP110 SPART SPATA5 SPATA5L1 SPEN SPG11 SPIDR SPOP SPR SPTAN1 SPTBN1 SPTLC1 SRCAP SRPX2 SSR4 ST3GAL5 STAC3 STAG1 STAG2 STAMBP STAT5B STIL STT3A STT3B STX1A STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SUPT16H SVBP SYNE1 SYNGAP1 SYNJ1 SZT2 TAF1 TAF13 TAF2 TAF6 TANC2 TANGO2 TAPT1 TARS1 TASP1 TAT TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX4 TBX6 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TDP2 TECPR2 TELO2 TERT TET3 TFAP2A TGIF1 THOC2 THOC6 THUMPD1 TIMMDC1 TINF2 TLK2 TMCO1 TMEM107 TMEM126B TMEM163 TMEM165 TMEM216 TMEM222 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TMTC3 TMX2 TNPO2 TNRC6B TOE1 TOP3A TOR1A TP53 TP53RK TPK1 TPRKB TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TREX1 TRIM8 TRIO TRIP12 TRIP13 TRIT1 TRMT1 TRMT10A TRPS1 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSPAN12 TSPEAR TSR2 TTC5 TTI2 TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TUSC3 TXN2 TXNDC15 TYMS UBA5 UBE2T UBE3A UBE3B UBE4B UBR1 UBTF UFC1 UFD1 UFM1 UFSP2 UGDH UGP2 UNC80 UPB1 UQCRC2 USP18 USP7 VAC14 VARS1 VARS2 VIPAS39 VPS11 VPS13B VPS13D VPS33A VPS33B VPS37A VPS37D VPS4A VPS50 VPS51 VPS53 VRK1 WARS1 WASHC4 WBP11 WDFY3 WDR11 WDR26 WDR37 WDR4 WDR45B WDR62 WDR73 WLS WT1 WWOX XPA XPC XPR1 XRCC2 XRCC4 XYLT1 YARS1 YARS2 YIF1B YIPF5 YME1L1 YRDC YWHAG ZBTB11 ZBTB18 ZC4H2 ZEB2 ZIC1 ZIC2 ZMYM2 ZNF148 ZNF292 ZNF335 ZNF408 ZNF526 ZNF592 ZNF668 ZNF699 ZNHIT3 ZPR1 ZSWIM6 ZSWIM7 HP_DECREASED_HIP_ABDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HIP_ABDUCTION CHST3 MATN3 NFIX PIEZO2 TNNT1 TPM2 HP_DECREASED_INHIBIN_B_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_INHIBIN_B_LEVEL MAGEL2 NDN OCA2 POR SNRPN XRCC2 HP_DECREASED_LACRIMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LACRIMATION AAAS ALX4 AP1B1 CLDN10 DST ELP1 ERCC4 ERCC6 ERCC8 FGF10 FGFR2 FGFR3 FOXL2 GMPPA LIFR MADD MAPT NGLY1 PAX1 PIGQ PRDM12 SETBP1 SLC12A2 SOX10 TRAPPC11 HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION ALG6 ANGPTL3 APOA5 APOB APOC3 B4GALT1 FDFT1 GPIHBP1 LDLRAP1 MSMO1 MTTP NGLY1 PANK2 SAR1B HP_DECREASED_LIBIDO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIBIDO AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C FSHB MEN1 TRANK1 HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE ACOX1 ALG3 BEST1 CYP4V2 GUCY2D IDH3B IDS LARGE1 LRAT MCOLN1 POMGNT1 PPT1 RGR RHO SAG USP45 HP_DECREASED_LYMPHOCYTE_APOPTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_APOPTOSIS CASP10 CASP8 FAS FASLG KRAS NRAS HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3 https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3 IL2RA JAK3 KNSTRN MALT1 MCM10 PIK3CD RAC2 SLF2 STAT1 TNFRSF9 HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN CD247 CD27 CD3D CD3E CIITA EXTL3 IKBKB IL2RA IL2RG IL7R JAK3 KNSTRN MALT1 MCM10 MGAT2 PIK3CD PNP RAC2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP SLF2 STAT1 SYK TNFRSF9 ZAP70 HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION CD46 CFH CFI HBB HELLPAR RHAG HP_DECREASED_MEAN_CORPUSCULAR_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME GLRX5 HBB LPIN2 NHLRC2 SLC11A2 SLC25A38 SLC4A1 SPTB STEAP3 TRNT1 HP_DECREASED_METHYLCOBALAMIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLCOBALAMIN ABCD4 LMBRD1 MMACHC MMADHC MTHFD1 MTR MTRR PRDX1 HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY MMAA MMAB MMACHC MMADHC PRDX1 HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS AGRN AK9 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 LRP4 MUSK RAPSN SCN4A HP_DECREASED_MUSCLE_MASS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MUSCLE_MASS AKT1 ALDOA AP4E1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BMP6 CHRNE CHST14 COL12A1 COLQ CPLX1 CTBP1 DSE ECEL1 FARSA FBN1 FGFRL1 FSHB FUCA1 FUZ G6PC1 GFPT1 GRB10 GYG1 HERC2 HFE HSD17B4 LETM1 LIG3 LMX1B MAGEL2 MAP3K7 MKRN3 MUSK NOTCH3 NPAP1 NSD2 PANK2 PIEZO2 PLOD1 POLG PTEN PWAR1 PWRN1 PYCR1 RAB18 RRM2B RUSC2 SLC9A6 SMS SNORD115-1 SNORD116-1 SPARC STRADA TBC1D20 TGFB3 TRIM2 TYMP VANGL1 HP_DECREASED_NASAL_NITRIC_OXIDE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NASAL_NITRIC_OXIDE ARL2BP CCDC65 CCNO CFAP298 CFAP300 CFAP45 CFAP52 CFAP74 DNAAF5 DNAAF6 DNAH11 DNAH5 DNAH9 DNAI2 DNAJB13 DRC1 LRRC56 MCIDAS ODAD3 ODAD4 RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 WDR19 ZMYND10 HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS APTX ELP1 GDAP1 HK1 HSPB8 LIG3 LMNA MFN2 MME NEFL PLEKHG5 PNPT1 POLG PRX RRM2B SACS SH3TC2 SPTLC1 TWNK TYMP HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS APTX DHH DNM2 DNMT1 EGR2 ELP1 FGD4 FLRT1 GAN GDAP1 GJB1 HK1 HSPB8 JPH1 KIF1A KIF1B KLC2 LIG3 LMNA MFN2 MME MPV17 MPZ MTRFR NEFL NGF NTRK1 PLEKHG5 PMP22 PNPT1 POLG PRX RAB7A RAI1 RETREG1 RRM2B SACS SBF2 SCN9A SH3TC2 SPG11 SPTLC1 TDP1 TFG TRIM2 TWNK TYMP VPS13A WNK1 HP_DECREASED_PALMAR_CREASES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PALMAR_CREASES AUTS2 CHST14 DSE PIEZO2 PLOD3 HP_DECREASED_PATELLAR_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PATELLAR_REFLEX ATP9A BICD2 DYNC1H1 FBLN5 HADHA HADHB LDB3 MYH14 REEP1 HP_DECREASED_PREALBUMIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PREALBUMIN_LEVEL CRLF1 FOXP3 HLA-DQA1 HLA-DQB1 NOS1 HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS CD247 CD3D CD3E DCLRE1C IL2RG IL7R PGM3 PNP RAG1 RAG2 HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS ATM CASP10 CIITA DOCK8 EPG5 EXTL3 FAS FASLG IKBKB IL2RG IL7R ITK IVNS1ABP KNSTRN LCK LEP LEPR MAGT1 MYC NSMCE3 PGM3 PIK3CD PRKCD RASGRP1 RFX5 RFXANK RFXAP SASH3 TOM1 UNC119 WAS HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS CD3G CD8A EXTL3 IKBKB IL2RG IL7R NSMCE3 PIK3CG WAS WIPF1 ZAP70 HP_DECREASED_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS CD19 CTNNBL1 FNIP1 HYOU1 ICOS IL21 IL6R IRF2BP2 LCP2 LRBA PIK3CD PLCG2 PRKCD REL SOCS1 TET2 HP_DECREASED_PROPORTION_OF_NAIVE_T_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_NAIVE_T_CELLS IL2RG PIK3R1 SASH3 SMARCAL1 SYK HP_DECREASED_SERUM_CREATININE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_CREATININE AVPR2 GALNT2 GAMT NFE2L2 NT5E HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1 ADAT3 ALG12 CTSK DCAF17 GALT GH1 GHR GHRHR GHSR IGF1 IGFALS KIAA0753 MCTP2 MED12 MPDU1 NFKB2 PGM1 RBM28 ROBO1 SIK3 SMPD1 SOX3 STAT5B HP_DECREASED_SERUM_IRON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_IRON CARD9 COL7A1 CP FOXP1 PIGA SKIC2 TRNT1 HP_DECREASED_SERUM_LEPTIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_LEPTIN AGPAT2 AKT2 BANF1 BSCL2 CIDEC KCNJ6 LEP LEPR LIPE LMNA ZMPSTE24 HP_DECREASED_SERUM_ZINC https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_ZINC COL7A1 IARS1 MMP1 SLC30A2 SLC39A4 HP_DECREASED_SIZE_OF_NERVE_TERMINALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SIZE_OF_NERVE_TERMINALS AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 GFPT1 LAMB2 LRP4 MUSK RAPSN SCN4A HP_DECREASED_SKULL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SKULL_OSSIFICATION ALG9 ALPL ALX4 ANTXR1 BMPER COL1A1 COL1A2 COL2A1 CREB3L1 CRTAP EXT2 FAM111A FGFR2 FIG4 HDAC6 IFT43 INTU LAMA5 LBR LMNA MPL NOTCH2 P3H1 PHF21A PPIB PPP3CA RUNX2 SEC23A SERPINH1 SLC25A19 SLC25A24 TAPT1 TBCE THPO TRIP11 TXNDC15 VAC14 WNT7A ZMPSTE24 HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE B2M CARD11 CASP8 CD19 CORO1A CR2 HYOU1 ICOS IKBKG SASH3 TNFRSF13B TNFRSF13C HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE AICDA ALG12 ARHGEF1 CD247 CD70 CD81 CORO1A CTPS1 MALT1 REL RIPK1 TCF3 TNFRSF9 HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION AICDA ALG12 ARHGEF1 B2M BTK CARD11 CARMIL2 CASP8 CD19 CD247 CD70 CD81 CORO1A CR2 CTPS1 HYOU1 ICOS IKBKG IRF2BP2 KNSTRN LRBA MALT1 PIK3CD RAC2 REL RIPK1 SASH3 TCF3 TNFRSF13B TNFRSF13C TNFRSF9 HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL CASP10 COG6 FAS FASLG IL2RA MAGT1 PRKCD RASGRP1 WAS HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL CD81 CR2 CTPS1 IGHG2 IGKC PIK3CD TNFRSF9 ZAP70 HP_DECREASED_TESTICULAR_SIZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_TESTICULAR_SIZE ALMS1 ANOS1 ARL6 ARX ATRX AXL B4GAT1 BBS1 BRCC3 CATIP CCDC141 CCDC28B CCDC34 CDKN1C CEP112 CFTR CHD7 CHRM3 CT55 CTDP1 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DDB2 DDX3Y DHX37 DKC1 DMRT3 DMXL2 DNAH10 DNAJC19 DNHD1 DUSP6 ERCC2 ERCC3 ERCC4 ERCC5 FAM111A FANCM FBN1 FBXO43 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 FOXA2 FSHB GATA4 GBA2 GLI2 GLI3 GNRH1 GNRHR HDAC8 HESX1 HS6ST1 HSD3B2 HSPG2 IL17RD KCNJ6 KDM5C KISS1 KISS1R KLHL10 LEP LEPR LHCGR LHX4 MAGEL2 MAP3K1 MAP3K7 MBTPS2 MCM8 MEIOB MOV10L1 MSH5 NAA10 NANOS1 NDN NDNF NHLH2 NR0B1 NR5A1 NSMF OCA2 OGT OTX2 PDHA2 PHF6 PHF8 PHGDH PMM2 PNLDC1 POLA1 POU1F1 PQBP1 PROK2 PROKR2 PROP1 RAB18 RBMY1A1 RLIM RNF113A RNF212 RPL10 RPL10L RSPO1 SAMD9 SATB2 SEMA3A SEMA3E SHOC1 SIM1 SLC29A3 SLC39A4 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPAG17 SPRY4 SRA1 SRY STAG3 SYCE1 SYCP3 TAC3 TACR3 TAF4B TBC1D20 TCTN3 TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 THOC2 TOGARAM1 TSPY1 TYMS USP9Y VAMP7 WDR11 WT1 WWOX XPA XPC XRCC2 ZFPM2 ZMYND15 ZPR1 HP_DECREASED_THALAMIC_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_THALAMIC_VOLUME EXOC7 FKRP GMPPB GSX2 MED17 POMGNT1 POMK POMT1 POMT2 SLC2A1 HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL CPE HESX1 KCNJ18 LHX3 LHX4 OTX2 POU1F1 PROP1 ROBO1 TSHB TSHR HP_DECREASED_T_CELL_ACTIVATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_T_CELL_ACTIVATION CARMIL2 CASP8 CD40LG EPG5 LEP LEPR MAGT1 RNU4ATAC TGFB1 HP_DECREASED_URINARY_POTASSIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINARY_POTASSIUM CACNA1S CLCNKB GABRA3 KCNJ18 SERPINA6 SLC12A3 HP_DECREASED_URINE_OUTPUT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINE_OUTPUT ACE AGT AGTR1 APRT C3 CAV1 CCN2 CCR6 CD46 CFB CFH CFHR1 CFHR3 CFI DZIP1L HLA-DRB1 IRF5 LPIN1 MT-CO1 MT-CO3 MYH11 OBSCN PAX2 PBX1 PKHD1 REN RYR1 SLC22A12 SLC25A20 THBD HP_DECREASED_VIGILANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_VIGILANCE ATP1A2 CACNA1A CDKN1A CDKN1B CDKN2B CDKN2C MEN1 PLP1 PRRT2 SCN1A HP_DEEPLY_SET_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEPLY_SET_EYE ABL1 AGL AGO2 AHDC1 ALKBH8 ALMS1 ANKRD17 AP1S2 ARNT2 ASH1L ASXL3 ATAD3A ATN1 BAP1 BBS7 BCR BICRA BPTF BRCC3 CACNA1G CAMK2B CAMTA1 CARS1 CASZ1 CDH2 CDKL5 CENPF CEP57 CHN1 CILK1 CNOT3 COA3 COL3A1 COL5A1 COX5A COX8A CRB1 CREBBP CRKL CRPPA CTBP1 CTCF DCPS DEAF1 DHPS DIS3L2 DLK1 DNAJC21 DNM1L DPH5 DPYD DPYSL5 DYRK1A EBF3 EDEM3 EEF1A2 EIF5A EMC1 EP300 EPB41L1 ERCC1 ERCC2 ERCC4 ERCC6 ERCC8 EXOSC2 EXTL3 FARSA FARSB FBN1 FBXO11 FBXO31 FIBP FLII FMR1 FOXF1 GABRD GATA4 GATAD2B GJA1 GJA5 GJA8 GLYCTK GNB2 GNS GORAB GPKOW GRIA3 GRIN1 GSC H3-3A H4C5 HACE1 HDAC4 HDAC8 HECW2 HHAT HMGA2 HS6ST2 HSPG2 HUWE1 HYLS1 IARS2 IGF1R IL6ST IPO8 IQSEC2 JAG1 JARID2 KAT6A KCNAB2 KCNK4 KDM5C KIDINS220 KIF7 KMT2B KMT2E KNSTRN LARP7 LAS1L LEMD3 LIFR LUZP1 MAD1L1 MAFB MAPK1 MAPK8IP3 MED12L MEF2C MEG3 MEIS2 MIPEP MMP23B MSL3 MYH3 NAA10 NALCN NDP NEDD4L NF1 NFIX NGF NOVA2 NTRK1 OCRL ODC1 OPHN1 ORAI1 OSGEP PAK1 PAK3 PDCD6IP PDPN PGAP1 PHF6 PHIP PIEZO2 PIGU PIGY PIK3CA PIK3CD PIK3R1 PLEC PLP1 POC1A POLR3A POU1F1 POU4F1 PPP2R5D PRDM16 PRKCZ PRKDC PRMT7 PRPS1 PRR12 PSMD12 PUF60 PUS7 PYCR1 RAB3GAP1 RAB3GAP2 RAI1 RALGAPA1 RARS2 RECQL RERE RHOBTB2 RNF2 RTL1 SALL4 SATB2 SCN4A SEPTIN9 SETBP1 SETD1A SH3PXD2B SHANK3 SIN3A SKI SLC35A1 SLC9A6 SLC9A7 SMAD4 SMC1A SNRPN SON SPEN SPOP SPTBN1 SRC SRCAP SSR4 STAG1 STAT3 STIM1 SUOX SYNGAP1 TAF1 TAFAZZIN TBC1D20 TBCD TBCE TBCK TBL1XR1 TBX15 TCF20 TCF4 TGFB2 THOC6 TMEM237 TMEM67 TMEM94 TOGARAM1 TPR TPRKB TRIM8 TRIP13 TRPM3 TRRAP TTC26 TTI2 UBE2A UBE3A UBE4B UGDH WAC WASF1 XRCC4 YARS1 ZBTB20 ZC4H2 ZEB2 ZNF668 ZPR1 HP_DEEP_PALMAR_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PALMAR_CREASE AIP ASXL1 ASXL2 ASXL3 ATP6V0A2 ATP6V1B2 BRAF CDK10 DPYD GPR101 HNRNPK HRAS KCNH1 KCNMA1 KCNN3 KRAS LTBP1 MAP2K1 MAP2K2 MTOR MTX2 OTUD5 PGM2L1 PRR12 RBM10 SHOC2 SLC25A24 SPECC1L SPRED2 TBL1XR1 VPS33A HP_DEEP_PHILTRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PHILTRUM ARID2 ARNT2 ATP6V1B2 AUTS2 BRAF CBL CDKL5 CHSY1 CREBBP DLK1 DNMT3A DPM2 DPYD EBF3 EED EFTUD2 EP300 EXT1 EZH2 FBN1 GNB2 H3-3A H4C5 H4C9 HRAS HS2ST1 HSPG2 IL6ST INTS1 JARID2 KCNK4 KIF11 MAP3K7 MED12 MEG3 MGP MYH8 NAA10 NAA20 NBN NOVA2 NRAS NRCAM NSD1 OCRL OFD1 PAM16 PBX1 PIGS PIGT PPP1CB PRKACB PURA RAD21 RTL1 RYR1 SETD5 SHOC2 SLC35C1 SMOC1 SMPD4 SNX14 SUZ12 TALDO1 TCF4 TFAP2A TOE1 TRPS1 UBE2A ZIC2 ZNF148 HP_DEEP_PLANTAR_CREASES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PLANTAR_CREASES ABCC9 AIP ASXL1 ATP6V0A2 ATP6V1B2 CREBBP EP300 ERCC6 GPR101 HNRNPK HRAS KCNH1 KCNJ8 KCNMA1 KCNN3 MTOR PIGN PIGQ PRKD1 TBL1XR1 HP_DEEP_SET_NAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_SET_NAILS EED EZH2 HRAS NSD1 SUZ12 HP_DEEP_VENOUS_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_VENOUS_THROMBOSIS AKT1 ALG6 EPAS1 F13A1 F2 F5 F8 F9 HABP2 MMACHC MTHFR MTRR PIEZO1 PIGA PMM2 PROC PROS1 SERPINC1 SERPIND1 THBD UBA1 HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE AARS1 CARS1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GTF2E2 GTF2H5 MPLKIP RNF113A TARS1 XPA XPC HP_DEFECTIVE_T_CELL_PROLIFERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_T_CELL_PROLIFERATION CD3E CTPS1 LIG1 MRTFA RASGRP1 TGFB1 WIPF1 HP_DEFICIENT_EXCISION_OF_UV_INDUCED_PYRIMIDINE_DIMERS_IN_DNA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIENT_EXCISION_OF_UV_INDUCED_PYRIMIDINE_DIMERS_IN_DNA ERCC4 FANCA FANCC FANCD2 FANCE HP_DEFICIT_IN_GRAMMAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIT_IN_GRAMMAR CHMP2B FOXP2 GALT GRN MAPT PSEN1 TMEM106B TREM2 VCP HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY GSN MAPT PRNP RNASEH1 RRM2B HP_DEFORMED_RIB_CAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_RIB_CAGE CYP27B1 CYP2R1 DNAJC21 EFL1 SBDS SLC34A3 SRP54 VDR HP_DEFORMED_SELLA_TURCICA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_SELLA_TURCICA ADAMTSL2 ALDH18A1 DYM FLNA GNPTAB GUSB IDUA MAF MTX2 NOTCH2 OBSL1 PLOD3 POP1 PTCH1 RMRP SLC17A5 TRIM37 VPS33A HP_DEFORMED_TARSAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_TARSAL_BONES ADAMTSL1 ATP6AP2 COL1A2 ECEL1 EZH2 GDF5 HOXD10 KANSL1 MET NALCN PHGDH TNNI2 TPM2 ZEB2 HP_DEGENERATION_OF_ANTERIOR_HORN_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_ANTERIOR_HORN_CELLS AGTPBP1 ANXA11 ASAH1 ATXN3 CEP126 CPLANE1 DCTN1 EXOSC3 EXOSC8 EXOSC9 IGHMBP2 NEFH PRPH SETX SLC25A46 SMN1 SMN2 SOD1 TFG UBA1 VRK1 HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS ATL1 CHCHD10 CPT1C DCTN1 FUS KPNA3 NEFH NIPA1 PLP1 PRPH RTN2 SLC33A1 SOD1 SPAST SPG11 SPG7 SQSTM1 TARDBP TBK1 UBAP1 VCP WASHC5 HP_DEGENERATION_OF_THE_STRIATUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_STRIATUM ADAR ATXN3 HTT IFIH1 LSM11 PDE8B RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC2A3 TREX1 HP_DEHYDRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEHYDRATION ABCA12 ABCC8 ACAD8 ACAT1 ACSF3 AGXT AK2 ALOX12B ALOXE3 AQP2 ASPRV1 ATP1A2 ATP1A3 ATP6V0A4 AVPR2 BLNK BSND CA12 CACNA1A CD79A CD79B CDKN1A CDKN1B CDKN2B CDKN2C CFTR CLCNKA CLCNKB CLMP CLPB CTNS CYC1 CYP11A1 CYP11B2 CYP24A1 CYP4F22 DBH EGFR EHHADH EIF2AK3 EPCAM ERCC6 FCGR2A GATM GCK HMGCL HSD3B2 HYMAI IGHM IGLL1 INS IVD KCNJ1 KCNJ11 LAMA3 LAMB3 LAMC2 LCT LIPN LRRC8A MCEE MEN1 MMAA MMAB MMACHC MMUT MRPS28 MYO5B NARS2 NDUFAF6 NEUROG3 NIPAL4 NLRP3 NR0B1 NR3C2 OCRL PCCA PCCB PDX1 PERCC1 PIK3R1 PKHD1 PLAGL1 SCNN1A SCNN1B SCNN1G SDR9C7 SLC12A1 SLC1A3 SLC22A5 SLC26A3 SLC34A1 SLC39A7 SLC5A1 SLC5A2 SPI1 SPINK5 STAT3 STX3 SULT2B1 TCF3 TGFB1 TGM1 UNC45A VPS33B ZFP57 HP_DELAYED_ABILITY_TO_CRAWL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_CRAWL CELF2 CTNNB1 HIVEP2 MDH2 MRPS25 PGAP1 RBL2 SON HP_DELAYED_ABILITY_TO_ROLL_OVER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_ROLL_OVER ACTA1 ADCY5 ATP6V0A1 CELF2 MECP2 MRPS25 NDUFA8 PGAP1 SLC25A12 SLC31A1 SON TAF8 VPS35L YIF1B HP_DELAYED_ABILITY_TO_SIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_SIT ACTA1 ADCY5 ADGRL1 AHDC1 ALMS1 AP3B2 CASK CDK13 CELF2 CHRNB1 CHRND CLDN11 COL3A1 CTBP1 CTNNB1 CUL3 DAG1 DCPS DPYSL5 EIF3F EXTL3 FOXG1 GAA GALNT2 GET4 GNAI1 GRIK2 GRIN1 GRIN2B H3-3A HIVEP2 HK1 INPP5E KAT6A LARGE1 MACF1 MBD5 MDH2 MECP2 MEF2C MKS1 NARS1 NAT8L NEUROD2 NEXMIF NGLY1 OPHN1 PAFAH1B1 PCYT2 PGAP1 PLP1 POLR2A POLR3K RAB3GAP2 RBL2 ROBO3 SATB1 SDHB SIK3 SLC18A2 SLC25A42 SLC39A8 SLC9A7 SNX14 SON TAF8 TRIM8 TRIO TTC5 TUBB3 UGDH VAMP1 VPS35L VPS51 WASF1 WDR26 ZNF142 HP_DELAYED_ABILITY_TO_STAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_STAND ALMS1 BSND CLCNKA CLCNKB COL12A1 DLAT DOLK DPM3 GAA ITPR1 KIDINS220 MPZ PHEX SCN2A SDHB TTC5 ZNF407 HP_DELAYED_ABILITY_TO_WALK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_WALK ABCA2 ACTN2 ADARB1 ADCY5 ADGRL1 AGO1 AHDC1 AHI1 ALMS1 ALS2 AMN AMPD2 AP1S2 AP3B2 AP4B1 AP4E1 AP4S1 ARID1B ARL13B ASXL3 ATG5 ATG7 ATP10A ATP6V0A1 ATP6V1A BCL11A BCL11B BRAT1 BRPF1 BSND CADM3 CAMK2A CASK CCDC134 CCDC22 CDK13 CELF2 CFL2 CHAMP1 CHD3 CHMP1A CHRNB1 CLCN3 CLCNKA CLCNKB CLDN11 CNKSR2 CNOT3 CNTNAP2 COASY COG1 COL12A1 COL3A1 COPB1 CPLX1 CRBN CREBBP CSNK2A1 CSNK2B CTNNB1 CUBN CUL3 CWC27 CYP2U1 CYP3A4 DAG1 DCPS DDOST DHPS DHX30 DLAT DOCK3 DOLK DPF2 DPM3 DPYSL5 DYNC1H1 DYNC1I2 EBF3 EIF2AK1 EIF2B4 EIF3F EP300 ERLIN2 EXOC6B FAR1 FASTKD2 FBLN1 FBXL3 FBXO11 FITM2 FKBP14 FLVCR1 FOXG1 FOXP1 FRMPD4 FUS GALNS GALNT2 GARS1 GET4 GNAI1 GNPTAB GRIA4 GRIK2 GRIN1 H3-3A HDAC4 HECW2 HERC2 HIVEP2 HK1 HNRNPK HS6ST2 HUWE1 HYCC1 IFT27 INPP5E IQSEC1 ITPR1 JAG1 KARS1 KAT6A KDM1A KDM3B KDM5B KLHL15 KMT2E KPNA3 KPTN LAMA2 LARGE1 LBR LMNB1 LMNB2 LRRC32 LSS MACF1 MAGEL2 MAPK8IP3 MARS1 MBOAT7 MCM3AP MECP2 MEF2C MEGF8 MID1 MKS1 MPZ MRAS MRPS14 MRPS25 MSL3 MTPAP MYO9A MYT1L NARS1 NBEA NCAPG2 NCDN NDUFA1 NDUFA12 NEUROD2 NFASC NFIX NMNAT1 NONO NUDT2 ODC1 OPHN1 P4HTM PACS2 PAK1 PAK3 PCYT2 PGAP1 PGM2L1 PHEX PIEZO2 PIGC PIGG PIGO PLOD1 PLP1 PMPCA PNPLA2 POLR1C POLR2A POLR3B POMK POMT1 PPP2CA PPP2R5D PRMT7 PUS7 RAB11B RAB3GAP1 RAB3GAP2 RAD51 RAI1 RALA RBL2 RNU12 ROGDI RORA RPL10 RUBCN RUSC2 RYR1 RYR3 SATB1 SDHB SELENON SEMA6B SET SETD5 SHMT2 SHOC2 SIGMAR1 SLC12A2 SLC16A2 SLC18A2 SLC25A1 SLC25A12 SLC25A42 SLC37A4 SLC5A7 SLC9A1 SLC9A7 SMARCA2 SMARCD1 SMC1A SNAP25 SNRPN SON SOX4 SPG11 SPOP SPTLC1 SRCAP STAG2 SYNE1 SYT1 TANGO2 TBR1 TCF20 TFG TIMM50 TMEM106B TMEM147 TMEM163 TMEM222 TMEM63A TMEM94 TMTC3 TNPO3 TRAPPC10 TRAPPC9 TRIM2 TRIM8 TRIO TRIT1 TRMT1 TRPM3 TRRAP TTI2 UBE3A VLDLR WASF1 WASHC4 WDR26 WDR4 WDR45 WDR81 XYLT1 YY1 ZBTB11 ZC4H2 ZEB2 ZNF148 ZNF407 ZSWIM6 HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE ADAMTS2 AMER1 ANKRD11 ANTXR1 ASPA ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BANF1 COL1A1 CTSK DSE FAM111A FLNA GH1 GRB10 H19 HDAC4 IGF2 MED12 MMP2 NCAPG2 NLRP3 PEX14 PEX19 PEX2 POLR3A RPS6KA3 RUNX2 SEC23A SMC3 TBCE ZIC1 HP_DELAYED_CNS_MYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CNS_MYELINATION AARS1 ACTL6B ACY1 ADARB1 ADAT3 AHDC1 AIFM1 ALDH5A1 ALDH6A1 ALDH7A1 ALG13 ALG14 ALG2 ALG9 AP3D1 ARF1 ARID1B ARNT2 ARX ASH1L ATP1A3 ATP6AP2 ATP9A BCS1L BMP4 BRAT1 C18orf32 CACNA1I CARS1 CDC40 CDK19 CHAMP1 CLCN3 CLCN7 CLPB CLTC CLTCL1 CNOT3 COPB2 CTNNB1 CUL3 D2HGDH DDX6 DHX30 DHX37 DNM1L DOHH EARS2 EIF2AK2 ELOVL4 EXOC8 EXOSC1 EXOSC2 EZH2 FANCB FANCL FAR1 FBXL4 FBXO28 FCSK FOCAD FOXP1 FRMD5 FRMPD4 FZR1 GABRG2 GEMIN4 GET4 GLS GLYCTK GNAO1 GNB2 GOLGA2 GRIK2 GTF2H5 H4C5 HCFC1 HIKESHI HS2ST1 IER3IP1 ITPA KCNC2 KCNN2 KCNT1 KDM1A KIDINS220 KIF5A LIPT1 LIPT2 LMX1B MADD MDH2 MED17 MLYCD MMUT MORC2 MTHFS NACC1 NADK2 NAE1 NARS1 NCDN NEDD4L NEUROD2 NGLY1 NMNAT1 NRCAM NRROS NUP133 NUP188 PEX7 PGAP1 PHACTR1 PIBF1 PIGS PIGU PKDCC PLPBP POGZ POLR2A POLR3B POU3F3 PPIL1 PPP2CA PPP2R1A PPP3CA PRMT7 PRUNE1 PURA RAB11B RAB3GAP1 RBM8A RERE RFX7 RHOBTB2 RNF13 RNU7-1 SETD1A SHANK3 SIN3A SLC12A5 SLC16A2 SLC1A2 SLC1A4 SLC2A1 SLC35A2 SLC35B2 SLC6A1 SMG9 SMPD1 SPATA5 STXBP1 TAF13 TAF2 TBC1D24 TGFB1 TIMM22 TKFC TMEM106B TMEM147 TMEM163 TMEM240 TMEM63A TNPO2 TNR TPR TRAPPC2L TRIM8 TRMT5 TRNT1 TRRAP TXN2 UBA5 UFC1 UGDH UPB1 VPS11 VPS33A WARS1 WARS2 YME1L1 YRDC YY1 ZC4H2 ZMIZ1 ZNF148 ZNF335 ZNF526 HP_DELAYED_CRANIAL_SUTURE_CLOSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CRANIAL_SUTURE_CLOSURE ACTB ACTG1 ADAMTS2 ALDH18A1 ALG9 AMER1 ANKRD11 ANTXR1 ASPA ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A BANF1 BICRA CASZ1 CHST14 COL1A1 CREBBP CRTAP CTSK DDX6 DSE DUOX2 DUOXA2 EFEMP2 ELN EP300 FAM111A FAM20C FBLN5 FGFR2 FGFR3 FLNA GABRD GH1 GLI3 GRB10 H19 HDAC4 HESX1 HSD17B4 HSPG2 IGF2 IYD KCNAB2 LHX3 LHX4 LIG4 LMNA LTBP1 LUZP1 MAF MED12 MMP2 MMP23B MTX2 NAA10 NCAPG2 NLRP3 NSUN2 PDGFRB PDPN PEX14 PEX19 PEX2 POLR3A POU1F1 PPP1R21 PRDM16 PRIM1 PRKCZ PROP1 PTDSS1 RERE RNF125 RNU12 ROR2 RPS19 RPS6KA3 RUNX2 SEC23A SH3PXD2B SKI SLC5A5 SMC3 SPEN TBCE TG TPO TSHB TWIST1 UBE4B USP7 ZIC1 ZMPSTE24 HP_DELAYED_EPIPHYSEAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_EPIPHYSEAL_OSSIFICATION B3GALT6 CLCN5 COL2A1 COL9A3 COMP CYP19A1 CYP27B1 CYP2R1 DDRGK1 DUOX2 DUOXA2 ESR1 FGFR2 GPX4 HESX1 IARS2 IYD KCNH1 KIF22 KIF7 LHX3 LHX4 MATN3 MIR140 PAM16 PISD POU1F1 PROP1 PTH1R RNU4ATAC SLC34A3 SLC5A5 SOX9 TG TONSL TPO TRPV4 TSHB TSHR VDR HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH ADAMTSL1 APC2 ATP6V1B2 AXIN2 CTSK EDA EDARADD FAM20A FGFR1 GJA1 IRF6 KCNJ2 LRP6 MIA3 MSX1 NPHS1 NSD1 PAX9 PIGF RECQL ROR2 RUNX2 SETD2 SLC37A4 SMARCB1 SOX4 SUMO1 TBC1D24 TEKT3 TFAP2B TGFA TONSL WNT10A WNT10B HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH CAMK2B CBFB CTSK DEAF1 EDNRA ERCC1 ERCC4 ERCC6 ERCC8 FGFR2 FLII IQSEC2 LEMD2 NDUFB11 RAI1 RUNX2 HP_DELAYED_ERUPTION_OF_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_TEETH ABCA5 ACP5 ADAMTS3 ADAMTSL1 AMER1 AMMECR1 ANAPC1 ANTXR1 APC2 ARID1A ARID1B ARID2 ARSB ATP6V0A2 ATP6V1B2 AXIN2 BCOR BRD4 CAMK2B CBFB CCBE1 CCDC8 CDH11 CHD7 CHST3 CLCN7 CRTAP CTSK CUL7 CYP27B1 CYP2R1 DEAF1 DMP1 DNAJC21 DPF2 DPYD DVL1 DYNC2LI1 EDA EDA2R EDARADD EDNRA EFL1 ELMO2 ENPP1 ERCC1 ERCC4 ERCC6 ERCC8 EVC EVC2 FAM20A FAT4 FGD1 FGF3 FGFR1 FGFR2 FLII FLNA GDF5 GHR GJA1 GLI1 GNAS GNB2 GRHL2 HDAC4 HDAC8 IDS IGF1 IKBKG IL11RA IL6ST IQSEC2 IRF6 KAT6B KCNH1 KCNJ2 KCTD1 LEMD2 LIG4 LMNA LONP1 LRP6 MIA3 MMP2 MSX1 MYSM1 NAA10 NDUFB11 NIPBL NPHS1 NSD1 NSUN2 OBSL1 OCRL P4HB PAPPA2 PAX9 PDE4D PDGFRB PIGA PIGF PIGL PIK3R1 POLR3A POLR3B PORCN PRKACA PRKACB PRKAR1A PTCH1 PTHLH RAD21 RAI1 RECQL RECQL4 RIC1 ROR2 RPS6KA3 RUNX2 SATB1 SBDS SEC23A SEC24D SEMA3E SETBP1 SETD2 SFRP4 SH3PXD2B SLC13A5 SLC1A2 SLC29A3 SLC37A4 SLC39A13 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SNX10 SNX14 SOX11 SOX4 SP7 SRP54 STAT3 STX16 SUMO1 SUOX TBC1D24 TCIRG1 TEKT3 TFAP2B TGFA TGFB1 THRA TNFRSF11A TNFSF11 TONSL TRIO TRIP11 TRPS1 TWIST2 UBR1 VDR WNT10A WNT10B WNT5A ZEB2 ZMPSTE24 HP_DELAYED_FINE_MOTOR_DEVELOPMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_FINE_MOTOR_DEVELOPMENT APC2 AUTS2 BRPF1 CACNA1G CARS1 CCNK CDC40 CDH11 CDH2 CIT CLCN3 CLCN7 CLP1 CNOT3 COL12A1 CTNNA2 DPH2 EBF3 FDXR FIG4 FNIP1 GRIA1 ITPR1 KAT8 KCNK4 KDM4B LNPK MINPP1 NDST1 NFIA PI4KA POR SEC24D SFXN4 SIN3A SNX14 SPTBN1 TET3 TMTC3 TNRC6B TRAPPC6B TRRAP TSEN15 TUBB3 WASHC4 WLS HP_DELAYED_GROSS_MOTOR_DEVELOPMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT ABCA2 ACTA1 ACTN2 ADARB1 ADCY5 ADGRL1 AGO1 AGRN AHDC1 AHI1 AK9 ALG12 ALMS1 ALS2 AMN AMPD2 AP1S2 AP3B2 AP4B1 AP4E1 AP4S1 APC2 ARID1B ARL13B ASXL3 ATG5 ATG7 ATP10A ATP1A1 ATP6V0A1 ATP6V1A BCAS3 BCL11A BCL11B BCORL1 BIN1 BMP1 BRAT1 BRPF1 BSND CACNA1C CACNA1G CADM3 CAMK2A CARS1 CASK CCBE1 CCDC134 CCDC22 CCNK CDC40 CDH2 CDK13 CDKL5 CELF2 CFL2 CHAMP1 CHD3 CHKA CHMP1A CHRNA1 CHRNB1 CHRND CHRNE CHST14 CHST3 CIT CLCN3 CLCN7 CLCNKA CLCNKB CLDN11 CLP1 CLPB CNKSR2 CNOT3 CNTNAP2 COASY COG1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COPB1 CPLX1 CRBN CREBBP CSNK2A1 CSNK2B CTBP1 CTNNA2 CTNNB1 CUBN CUL3 CWC27 CYP2U1 CYP3A4 DAG1 DCPS DDOST DHPS DHX30 DLAT DLK1 DMD DNAJC19 DNASE2 DNM2 DOCK3 DOK7 DOLK DPF2 DPH2 DPM3 DPYSL5 DSE DYNC1H1 DYNC1I2 EBF3 EHMT1 EIF2AK1 EIF2B4 EIF3F EP300 ERLIN2 EXOC6B EXTL3 FAR1 FASTKD2 FBLN1 FBXL3 FBXO11 FDXR FGF3 FIG4 FITM2 FKBP14 FKRP FLRT1 FLVCR1 FNIP1 FOXG1 FOXP1 FRMPD4 FTSJ1 FUCA1 FUS GAA GABBR2 GALE GALNS GALNT2 GARS1 GET4 GJA1 GJC2 GLS GNAI1 GNPTAB GRIA1 GRIA4 GRIK2 GRIN1 GRIN2B H3-3A HARS1 HDAC4 HECW2 HERC2 HIVEP2 HK1 HNRNPK HOXA1 HS6ST2 HUWE1 HYCC1 IFT27 INPP5E IQSEC1 ITPR1 JAG1 KARS1 KAT6A KAT8 KCNA4 KCNK4 KDM1A KDM3B KDM4B KDM5B KIAA0753 KIDINS220 KIF14 KIF21A KLC2 KLHL15 KMT2A KMT2C KMT2E KPNA3 KPTN KY LAMA2 LARGE1 LARS1 LBR LMNB1 LMNB2 LNPK LRP4 LRP5 LRRC32 LSS MACF1 MAGEL2 MAPK8IP3 MARS1 MBD5 MBOAT7 MBTPS1 MCM3AP MDH2 MECP2 MECR MED13 MEF2C MEG3 MEGF8 MESD MFN2 MID1 MINPP1 MKS1 MORC2 MPZ MRAS MRPS14 MRPS25 MSL3 MT-TE MTMR14 MTPAP MUSK MYF6 MYH7 MYO9A MYT1L NAA10 NARS1 NAT8L NBEA NCAPG2 NCDN NDST1 NDUFA1 NDUFA12 NDUFA8 NEDD4L NEUROD2 NEXMIF NFASC NFIA NFIX NGLY1 NMNAT1 NONO NPHP1 NTNG1 NUBPL NUDT2 ODC1 OGDH OPHN1 OTUD6B P4HTM PACS2 PAFAH1B1 PAK1 PAK3 PCYT2 PDE10A PGAP1 PGAP3 PGM2L1 PHEX PHKA2 PHKB PHKG2 PHOX2A PI4KA PIEZO2 PIGC PIGG PIGO PLEC PLOD1 PLP1 PMPCA PNP PNPLA2 POLR1C POLR2A POLR3B POLR3K POMK POMT1 POMT2 PPP2CA PPP2R1A PPP2R5D PRIM1 PRMT7 PTEN PUS7 RAB11B RAB3GAP1 RAB3GAP2 RAD51 RAI1 RALA RAPSN RBL2 RBPJ RNU12 ROBO3 ROGDI RORA RPL10 RTL1 RUBCN RUSC2 RYR1 RYR3 SATB1 SCN2A SCN4A SDHB SELENOI SELENON SEMA6B SET SETD5 SHMT2 SHOC2 SIGMAR1 SIK3 SLC12A2 SLC16A2 SLC18A2 SLC25A1 SLC25A12 SLC25A42 SLC31A1 SLC37A4 SLC39A8 SLC5A7 SLC6A3 SLC9A1 SLC9A7 SMARCA2 SMARCD1 SMC1A SMPD1 SNAP25 SNRPN SNX14 SON SOX4 SPARC SPG11 SPOP SPTBN4 SPTLC1 SRCAP STAG2 SUCLA2 SUPT16H SYNE1 SYT1 TAF1 TAF8 TANGO2 TBR1 TCF20 TET3 TFG TGFB3 TIMM50 TK2 TMEM106B TMEM147 TMEM163 TMEM222 TMEM63A TMEM63C TMEM94 TMTC3 TNFRSF11B TNNT1 TNPO3 TNRC6B TRAPPC10 TRAPPC6B TRAPPC9 TRIM2 TRIM8 TRIO TRIT1 TRMT1 TRMU TRNT1 TRPM3 TRRAP TSEN15 TTC5 TTI2 TTN TUBA1A TUBB2B TUBB3 UBE2A UBE3A UGDH VAMP1 VLDLR VPS35L VPS51 WASF1 WASHC4 WDR26 WDR4 WDR45 WDR81 WLS XYLT1 YARS1 YIF1B YY1 ZBTB11 ZC4H2 ZEB2 ZNF142 ZNF148 ZNF407 ZSWIM6 HP_DELAYED_MENARCHE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MENARCHE ALMS1 DNM1L FSHB GHR LMNA PEX10 PTPN11 SLC25A13 STUB1 ZMPSTE24 HP_DELAYED_MYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MYELINATION AARS1 ACTL6B ACY1 ADAMTSL1 ADARB1 ADAT3 AHCY AHDC1 AIFM1 ALDH5A1 ALDH6A1 ALDH7A1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG9 AP3D1 ARF1 ARID1B ARNT2 ARX ASH1L ASNS ASXL1 ATP1A3 ATP6AP2 ATP9A BCS1L BMP4 BRAT1 C18orf32 CACNA1I CARS1 CASK CDC40 CDK19 CDKL5 CHAMP1 CLCN3 CLCN4 CLCN7 CLP1 CLPB CLTC CLTCL1 CNOT3 COG5 COG7 COPB2 COX7B CREBBP CTNNB1 CUL3 CYB5A CYB5R3 D2HGDH DCX DDX6 DHFR DHX30 DHX37 DMXL2 DNM1L DOHH DPM1 EARS2 EIF2AK2 ELOVL4 EP300 ERCC6 EXOC8 EXOSC1 EXOSC2 EZH2 FANCB FANCL FAR1 FBXL4 FBXO28 FCSK FDXR FLCN FOCAD FOXG1 FOXP1 FOXRED1 FRMD5 FRMPD4 FZR1 GABRG2 GATAD2B GCDH GEMIN4 GET4 GFM1 GLS GLYCTK GMNN GNAO1 GNB1 GNB2 GOLGA2 GRIK2 GRIN1 GRM7 GTF2H5 H4C5 HACE1 HCFC1 HIKESHI HNRNPU HS2ST1 IDH1 IER3IP1 IFIH1 IREB2 ISCA1 ITPA KCNA1 KCNC2 KCNN2 KCNQ2 KCNT1 KDM1A KIDINS220 KIF5A KMT2E LIPT1 LIPT2 LMX1B MADD MAN2B1 MAPK8IP3 MDH2 MED17 MLYCD MMUT MORC2 MRPS22 MTHFS MTRR NACC1 NADK2 NAE1 NARS1 NCDN NEDD4L NEUROD2 NGLY1 NMNAT1 NR2F1 NRCAM NRROS NTRK2 NUP133 NUP188 OCA2 PAK1 PEX7 PGAP1 PHACTR1 PHGDH PIBF1 PIGA PIGN PIGP PIGQ PIGS PIGU PIGV PKDCC PLAA PLCB1 PLPBP PMM2 PNKP PNPT1 POGZ POLR2A POLR3B POU3F3 PPIL1 PPP1R15B PPP2CA PPP2R1A PPP3CA PRMT7 PRPS1 PRUNE1 PSAT1 PURA RAB11B RAB3GAP1 RBM8A RERE RFX7 RHOBTB2 RMND1 RNASEH2C RNF13 RNU7-1 SATB2 SCN1A SCN1B SCN2A SEPSECS SETD1A SHANK3 SIK1 SIN3A SLC12A5 SLC13A5 SLC16A2 SLC1A2 SLC1A4 SLC25A1 SLC25A22 SLC2A1 SLC32A1 SLC35A2 SLC35B2 SLC6A1 SLC6A8 SMG9 SMPD1 SPATA5 SPTBN1 STAMBP STXBP1 SYT1 TAF13 TAF2 TBC1D24 TBCE TGFB1 TIMM22 TKFC TMEM106B TMEM147 TMEM163 TMEM240 TMEM63A TNPO2 TNR TPR TRAPPC2L TRIM8 TRMT10A TRMT5 TRNT1 TRRAP TXN2 UBA5 UBE3A UFC1 UGDH UPB1 VPS11 VPS33A WARS1 WARS2 WWOX YME1L1 YRDC YY1 ZC4H2 ZMIZ1 ZNF148 ZNF335 ZNF526 HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES BGN CBFB COL2A1 EXOC6B EXTL3 HOXA13 IHH LONP1 MATN3 MBTPS1 PIGV PTH1R RMRP TONSL TRIP11 TRPV4 UFSP2 HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION B3GALT6 COL2A1 DUOX2 DUOXA2 HESX1 IYD LHX3 LHX4 MATN3 POU1F1 PROP1 RNU4ATAC SLC5A5 TG TPO TSHB TSHR HP_DELAYED_PUBERTY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBERTY AIP ALDOA ALMS1 ALX4 ANOS1 AR ATAD3A ATM BMP15 BNC1 BRAF BRCC3 BRD4 BTK CARS1 CCDC141 CDH23 CDON CENPT CHD7 CISD2 CLCNKB COL7A1 CPE CTNNB1 CTNS CUL4B CYB5A CYP11A1 CYP17A1 DACT1 DCAF17 DCC DEAF1 DHX37 DIAPH1 DMRT3 DNM1L DUSP6 EIF2S3 EIF5A ENTPD1 ESR1 EXT2 FAM111B FEZF1 FGD1 FGF17 FGF8 FGFR1 FLII FLRT3 FOXA2 FSHB FSHR G6PC1 GALT GATA4 GBA1 GHR GHSR GLA GLI2 GMNN GNRH1 GNRHR GPR161 HBB HDAC8 HERC2 HESX1 HLA-DQA1 HLA-DQB1 HS6ST1 IGFALS IL17RD INSR IQSEC2 KISS1 KISS1R LEPR LGR4 LHB LHX4 LMNA LPIN2 MAGEL2 MAP3K1 MAP3K7 MEN1 MKRN3 MMP1 MRPS22 MSH4 MSMO1 NDN NDNF NDP NF1 NHLH2 NIPBL NLRP3 NONO NOTCH2 NPAP1 NR0B1 NR5A1 NSMF NUP107 OCA2 OCRL OTX2 PCSK1 PEX10 PGM1 PHF21A PHF6 PHKA2 PHKG2 PNPLA6 POF1B POLR3A POLR3B POLR3GL POLR3H POMC POR POU1F1 PPP1R15B PRDM13 PROK2 PROKR2 PROP1 PSMC3IP PTPN11 PTRH2 PUS1 PWAR1 PWRN1 PYGL RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RBM28 ROBO1 RPL10 SALL1 SCARB2 SEMA3A SEMA3E SLC12A3 SLC25A13 SLC29A3 SLC37A4 SMC1A SMC3 SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX10 SOX11 SOX3 SOX9 SPIDR SPRY4 SPTBN1 SRY STAT1 STAT3 STAT5B STUB1 TAC3 TACR3 TAF13 TBC1D20 TBX3 TCF12 TGFB1 TOM1 TRIP4 TRMT10A USP9X VAMP7 VPS13B WDR11 WFS1 WT1 WWOX YARS2 ZBTB20 ZFPM2 ZMPSTE24 ZSWIM7 HP_DELAYED_PUBIC_BONE_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBIC_BONE_OSSIFICATION CBFB COL2A1 GJB2 GJB6 NKX3-2 RUNX2 SIK3 HP_DELAYED_SOCIAL_DEVELOPMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_SOCIAL_DEVELOPMENT ABCC8 AMPD2 APC2 CACNA1G CCNK CDC40 CIT COG6 CTNNA2 FOXP2 ITPR1 LCA5 LNPK LRAT PPIL1 RPE65 SNX14 SPATA7 TMTC3 TUBB3 WLS HP_DELAYED_UMBILICAL_CORD_SEPARATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_UMBILICAL_CORD_SEPARATION IL6ST ITGB2 MYD88 RAC2 SMARCD2 HP_DELIRIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELIRIUM ALAD DNMT1 FIG4 MMACHC MT-TE NAGS PRDX1 RYR1 SLC25A13 HP_DELUSIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELUSIONS APOL2 APOL4 ARSA ATRX BRAF C9orf72 CDH23 CHI3L1 COMT CPOX CSF1R CYP27A1 DAOA DGCR2 DGCR6 DGCR8 DRD3 ECM1 EIF2B1 ESS2 FMO3 GBA1 HLA-DQB1 HMBS HTR2A HTRA1 HTT IMPA1 JPH3 MAN2B1 MTHFR NR3C1 PLA2G6 PPOX PPP2R2B PRDM8 PRNP PSAP RTN4R SLC25A13 SLC2A3 SNCA SNCB SYN2 TBP TBX1 TIMM8A TP53 TRANK1 USP48 USP8 VPS13A HP_DEMENTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMENTIA AARS1 AARS2 ABCA7 ABCD1 ADA2 ADH1C ALDH18A1 ANXA11 APOE APP APTX ARSA ASAH1 ATN1 ATP13A2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATRX ATXN10 ATXN2 ATXN3 ATXN8OS AUH BRAF C19orf12 C9orf72 CCNF CDH23 CERS1 CFAP43 CHCHD10 CHCHD2 CHMP2B CISD2 CLN3 CLN6 CLN8 COL4A1 CP CPT1C CSF1R CST3 CSTB CTSF CUBN CYLD CYP27A1 DCTN1 DGUOK DLAT DNAJC13 DNAJC5 DNAJC6 DNM1L DNMT1 EIF4G1 EPM2A ERBB4 ERCC4 ERCC8 FAR1 FBXO7 FMR1 FTL FUS GBA1 GBA2 GBE1 GCDH GIGYF2 GLUD2 GM2A GRN HEXA HLA-DQB1 HNRNPA1 HNRNPA2B1 HTRA1 HTRA2 HTT IRF6 ITM2B JPH3 KCTD7 LIG3 LMNB1 LRRK2 LYST MAPT MATR3 MBTPS2 MMACHC MME MPO MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW NDP NDUFA1 NHLRC1 NKX2-1 NOS3 NOTCH2NLC NOTCH3 NPC1 NPC2 NR3C1 NR4A2 OPA1 PANK2 PARK7 PDE10A PDGFB PDGFRB PINK1 PLA2G6 PLAU PNPLA6 PODXL POLG PPP2R2B PRDM8 PRDX1 PRICKLE1 PRKAR1B PRKN PRNP PSAP PSEN1 PSEN2 RAB39B RNF216 ROGDI RRM2B SAMD9L SCARB2 SDHA SDHAF1 SDHB SDHD SERPINI1 SLC13A5 SNCA SNCAIP SNCB SORL1 SPAST SPG11 SPG21 SPTLC1 SQSTM1 STARD7 SYNJ1 TARDBP TBK1 TBP TIA1 TIMM8A TMEM106B TOMM40 TP53 TREM2 TREX1 TRPM7 TTR TUBA4A TUBB4A TWNK TYMP TYROBP UBQLN2 UCHL1 USP48 USP8 VCP VPS13A VPS13C VPS35 WDR45 WFS1 XPR1 ZFYVE26 HP_DEMYELINATING_MOTOR_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMYELINATING_MOTOR_NEUROPATHY GJC2 NEFL RNASEH1 SELENOI TFG HP_DEMYELINATING_PERIPHERAL_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY ABHD12 ACO2 ADAR AFG3L2 BAG3 COA7 DEGS1 DMXL2 DNAJC3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 GDAP1 GJC2 HARS1 HK1 IFIH1 LIG3 LSM11 MANBA MOGS MPZ MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NDRG1 NEFL NRCAM PLP1 PMP22 POLG POLR3B PTRH2 RFC1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF168 RNU7-1 RRM2B SACS SAMHD1 SELENOI SH3TC2 SLC12A6 SOX10 SPTBN4 TFG TREX1 TYMP VRK1 ZFYVE26 HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS ERCC6 ERCC8 PDGFB PDGFRB SLC20A2 SNORD118 HP_DENTAL_CROWDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_CROWDING ABL1 ACTA1 AMER1 AMMECR1 ANKH ARL6 ASXL3 ATP6V1E1 ATR BANF1 BBS1 BCOR BMP2 C12orf57 CAMK2B CBS CCDC28B CCDC47 COL1A2 COL3A1 COL5A1 CREBBP DDR2 DHCR7 DSE DVL1 EDN1 EDNRA EMC10 EP300 FBN1 FGFR1 FGFR2 FLCN FRAS1 FREM2 GJA1 GNAI3 GNB2 GRB10 GRIP1 H19 HACD1 HNRNPH1 IGF2 IL11RA IL1RAPL1 IL6ST INSR ITGA7 KCNJ2 KCNJ5 KIDINS220 KIF15 LGI4 LMNA LOX MADD MAP3K20 MASP1 MED12 MGAT2 MYH3 MYL2 MYMX NAA10 NEDD4L NONO NOTCH3 NSDHL OCRL PCGF2 PEX6 PIGK PLCB4 PLOD1 POLD1 PRMT7 PUS7 RECQL ROR2 RPL10 RPS6KA3 SATB2 SCARF2 SCN4A SCUBE3 SELENON SET SETBP1 SETD5 SHANK3 SMC1A SMS SNX14 SOBP SOX5 SPECC1L SPEN TAB2 TAF6 TECPR2 TPM2 TPM3 TRIM37 TRIO TRPS1 UPF3B WNT5A XYLT1 ZBTB7A ZDHHC9 ZEB2 ZMPSTE24 HP_DENTAL_ENAMEL_PITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_ENAMEL_PITS AMBN COL17A1 DLX3 DSPP ITGB4 ITGB6 LAMB3 TSC1 HP_DENTAL_MALOCCLUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_MALOCCLUSION ABCC9 ACP5 AGO2 AMELX AMER1 ARHGAP29 ARHGEF38 ASPH ATP6V1B2 ATR AXIN2 BANF1 BAZ1B BCL7B BCOR BMP2 BMP4 BRAF BRCA1 BRF1 BUD23 CA2 CDC42 CDH1 CDH11 CHRNE CHRNG CLCN7 CLIP2 COBLL1 CREBBP CTSK DCHS1 DLG1 DLX4 DNAJC30 DOCK3 DPM2 DSPP DVL1 DVL3 EDA EDARADD EDN1 EIF4H ELN ENAM EP300 ERCC6 ERCC8 FAM83H FAT4 FGFR1 FGFR2 FGFR3 FKBP6 FLCN FLNA FRAS1 FREM2 GFPT1 GJA1 GLI2 GNAI3 GNAS GPC3 GPC4 GPR68 GRHL3 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HNRNPK HSPG2 IL11RA IRF6 IRX5 ITGB6 KCNH1 KCNMA1 KCNN3 KDM6A KLK4 LIMK1 LRP5 LRP6 MAP2K1 MARS1 MEGF8 METTL27 MLXIPL MMP20 MSX1 MTM1 MYOD1 NCF1 NECTIN1 NOTCH2 OBSL1 PAX1 PAX9 PCGF2 PCYT1A PDGFRA PIK3R1 PLCB4 PLEKHM1 PORCN PRKAR1A PTPN11 PYROXD1 RDH11 RELT RFC2 RHOA RIC1 RPS6KA3 SATB2 SH3BP2 SH3PXD2B SHANK3 SKI SLC39A13 SMAD3 SMARCA2 SMCHD1 SOS1 SOST STX1A SUMO1 TBL2 TCF12 TCIRG1 TGFA THOC6 TMEM270 TP63 TRIM37 TRPS1 TSPAN7 TTI2 TWIST2 VPS37D WNT10A WNT10B HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE AGK ATP5F1A DGUOK DNA2 LIG3 MGME1 POLG POLG2 RRM2B SLC25A10 SLC25A4 SUCLG1 TFAM TK2 TOP3A TWNK TYMP HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN ABCA7 APP DYSF GNE PSEN1 PSEN2 SORL1 TOMM40 TREM2 HP_DEPRESSED_NASAL_BRIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_BRIDGE ABCC9 ACAN ACOX1 ACSL4 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL2 ADAT3 ADGRG6 ADNP AGA AGL AHDC1 AIFM1 AKT1 AKT3 ALDH6A1 ALG3 ALG9 ALX4 AMMECR1 ANK1 ANKH ANTXR1 ARID1A ARID1B ARID2 ARL3 ARSB ARSL ARX ASH1L ASXL1 ASXL3 ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT BBS7 BICRA BLTP1 BMP2 BMPER BMPR1A BRAF BRD4 BUB1B CACNA1C CAMKMT CANT1 CASK CASZ1 CBL CCBE1 CCDC22 CCND2 CCNQ CD96 CDC42BPB CDCA7 CDH11 CDH2 CDK10 CDKL5 CDKN1C CEP57 CHD7 CHD8 CHST3 CLIC2 CNOT1 COG8 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL2A1 COL9A3 CREBBP CRIPT CRLF1 CSGALNACT1 CSPP1 CTU2 CUL4B CUL7 DDB1 DDR2 DEAF1 DHCR24 DHCR7 DHX30 DICER1 DIS3L2 DLK1 DLL3 DMXL2 DNMT3B DOCK6 DOK7 DPF2 DPH1 DPH2 DPM1 DPYD DPYSL5 DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EDA EDAR EDARADD EED EEF1A2 EFEMP2 EIF2AK3 ELN EP300 EPG5 ERF ETFA ETFB ETFDH EXOSC1 EXTL3 EYA1 EZH2 FAM20C FAR1 FAT4 FBN1 FBXO28 FDFT1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FH FLII FLNA FLNB FOCAD FOXC1 FOXG1 FOXL2 FRAS1 FREM1 FREM2 FTSJ1 FUCA1 FZD2 GABRD GAD1 GATA1 GATAD2B GBA1 GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLIS3 GLUL GMNN GNAO1 GNAS GNB2 GNPAT GNPTAB GNRH1 GNRHR GNS GOLGA2 GPC3 GPC4 GPC6 GPX4 GRIN1 GRIP1 GRM7 GTPBP2 H3-3A H4C11 H4C9 HBB HDAC4 HDAC8 HEATR3 HECW2 HELLS HEPACAM HES7 HESX1 HNRNPR HOXB1 HRAS HS6ST1 HSD17B4 HSPG2 HUWE1 HYAL1 IARS2 IDUA IFT140 IFT52 IFT74 IFT80 IFT81 IL11RA IL6ST INPPL1 INTU IPO8 IQSEC2 IYD JAG1 JARID2 KAT5 KAT6B KAT8 KCNA1 KCNAB2 KCNE5 KCNH1 KCTD1 KDM6B KIAA0586 KIAA0753 KIF11 KIF21A KIF7 KISS1 KISS1R KLHL7 KMT2D KNSTRN KRAS KREMEN1 KYNU LAMA5 LARP7 LBR LFNG LHX3 LHX4 LIG4 LINS1 LONP1 LRP2 LTBP3 LUZP1 MACF1 MADD MAF MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPRE2 MARS2 MDH1 MECP2 MED12 MED12L MED13L MED27 MEF2C MEG3 MEGF8 MESP2 METTL23 MGP MINPP1 MIPEP MLXIPL MMP23B MN1 MRAS MRPS14 MTHFR MTOR MTX2 MUSK MYMK MYOD1 NAA10 NAGA NANS NBN NEPRO NEUROD2 NEXMIF NF1 NFIX NHLH2 NIPBL NMNAT1 NPR2 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE3 NSMF NSRP1 NSUN2 NUP88 NXN OBSL1 P4HTM PAICS PAK2 PAM16 PAX1 PAX3 PCLO PDE4D PDGFRB PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGM2L1 PIGA PIGG PIGL PIGN PIGP PIGQ PIGT PIGU PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PITX1 PITX2 PLCB3 PLOD1 PLXNA1 PMM2 PNKP POGZ POLA1 POLE POLG2 POLR3A POLRMT POR POU1F1 PPM1B PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCZ PRKD1 PRMT7 PROK2 PROKR2 PROP1 PRPS1 PSAT1 PTEN PTH1R PURA QARS1 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RALGAPA1 RAPSN RECQL4 RERE RHOBTB2 RIPK4 RIPPLY2 RMRP RNF2 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RSPRY1 RTL1 RUNX2 RYR3 SCARF2 SCN1B SCN2A SCO2 SCYL2 SEMA3E SEPTIN9 SETBP1 SETD5 SH3PXD2B SHH SHOX SHROOM4 SIK1 SIM1 SIN3A SIX2 SKI SKIC2 SLC18A3 SLC1A4 SLC25A22 SLC25A24 SLC26A2 SLC32A1 SLC35C1 SLC39A13 SLC3A1 SLC45A1 SLC5A5 SLC6A9 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SMPD4 SNAP29 SNX14 SON SOS1 SOST SOX11 SOX4 SOX5 SOX9 SP7 SPATA5 SPATA5L1 SPECC1L SPEN SPOP SPRY4 SRD5A3 STAG2 STX16 SUFU SUMF1 SUPT16H SYNE1 TAC3 TACR3 TAF1 TALDO1 TAOK1 TBCE TBX2 TBX4 TCF20 TCF3 TFAP2A TFAP2B TFE3 TG TGIF1 THSD1 TMEM107 TMEM147 TMEM216 TMEM94 TOE1 TONSL TP63 TPO TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRPM3 TRPV4 TRPV6 TRRAP TSHB TSR2 TTC26 TUBA1A TUBB TWIST1 TWIST2 UBE2A UBE3B UBE4B UGP2 UQCC2 USB1 USP9X VANGL2 VARS1 VPS35L WAC WASHC5 WDR11 WDR26 WDR35 WDR4 WNT5A XYLT1 YARS1 ZBTB18 ZBTB20 ZBTB24 ZIC2 ZMPSTE24 ZNF292 ZSWIM6 HP_DEPRESSED_NASAL_RIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_RIDGE AASS ABCA12 ALX4 ARSL ATRX B9D1 B9D2 BMPER BUB1 BUB1B BUB3 CASZ1 CC2D2A CDON CEP290 CEP57 CHRNA1 CHRND CHRNG CNOT3 CREBBP CSPP1 DDR2 DISP1 DLL1 DZIP1L EDA EDA2R EDAR EDARADD EFNB1 FAM20C FGF20 FGF8 FGFR1 FOXA2 FOXH1 GABRD GAS1 GFRA1 GH1 GHR GLB1 GLI2 GLI3 GMNN GREB1L HDAC6 HESX1 HSPA9 HSPG2 ITGA8 KCNAB2 KDF1 LBR LHX4 LMBR1 LUZP1 MAN2B1 MBD5 MKS1 MMP23B MN1 MYH3 NALCN NODAL OTX2 PAX3 PAX7 PDE4D PDPN PEPD PEX12 PHGDH PIGL PKHD1 PLCH1 POU1F1 PRDM16 PRKAR1A PRKCZ PRMT7 PROP1 PSAT1 PTCH1 PTPN11 PUS1 RERE RET RMRP RPGRIP1 RPGRIP1L RPS19 SHH SIX3 SKI SKIC3 SLC35C1 SMC1A SNAP29 SOX3 SOX9 SPEN STAG2 STIL TBX1 TCTN1 TCTN2 TCTN3 TDGF1 TFAP2B TGIF1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRAF6 TRIP13 TWIST2 TXNDC15 UBE4B WNT9B ZIC2 HP_DEPRESSED_NASAL_TIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_TIP ACTB ACTG1 ALX4 CILK1 COLEC11 EIF2S3 EPG5 EXOC2 EXT2 FANCL FLNA KDM6A KMT2A KMT2D MUSK MYCN NAA10 PHF21A POGZ PRIM1 PTCH1 SPTBN1 TAF1 TBX2 TGIF1 TP63 ZEB2 HP_DEPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSION AARS2 ABCA7 ABCB11 ABCB4 ADGRV1 ADH1C AFG3L2 AIP ALAD ALDH4A1 AMACR ANG ANXA11 AOPEP AP1G1 AP2S1 AR ARMC5 ARSA ARSG ARVCF ATP13A2 ATP1A3 ATP7B ATP8B1 ATP9A ATRX ATXN10 ATXN2 ATXN8OS BANK1 BAZ1B BCL7B BCR BCS1L BLK BMPR1A BRAF BUD23 C19orf12 C4A C4B C9orf72 CABP4 CACNA1G CACNA1H CACNA1I CARS1 CASR CBS CCNF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEP78 CEP85L CFAP410 CFTR CHCHD10 CHCHD2 CHD7 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIB2 CISD2 CLCA4 CLCN4 CLIP2 CLN3 CLN6 CLRN1 COASY COL7A1 COMT COQ2 CPOX CR2 CRH CRKL CSF1R CTLA4 CTSF CYP27A1 DAO DCTN1 DCTN4 DEPDC5 DGUOK DISP1 DLL1 DNA2 DNAJC13 DNAJC30 DNAJC5 DNAJC6 DNASE1 DNMT1 DRD2 DUSP6 EDNRA EHMT1 EIF4G1 EIF4H ELN EPCAM EPHA4 EPM2A ERBB4 ESPN ETS1 FA2H FAN1 FCGR2B FCGR3B FGF14 FGF17 FGF8 FGFR1 FIG4 FKBP5 FKBP6 FLT4 FMO3 FMR1 FOXH1 FUS GABRA1 GABRB3 GABRG2 GALT GAS1 GBA1 GCH1 GCLC GDAP2 GIGYF2 GLA GLE1 GLI2 GLT8D1 GLUD2 GNA11 GNAS GNRH1 GNRHR GP1BB GPR101 GPR35 GRIN2A GRN GSN GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HARS1 HFE HIRA HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMOX1 HNRNPA1 HS6ST1 HTR2A HTRA2 HTT IDUA IFNG IGHG1 IL10 IMPDH2 IRAK1 IRF4 IRF5 ITGAM JAZF1 JMJD1C JPH3 JRK KCNJ2 KCNN4 KCNT1 KCTD17 KIAA0319L KISS1 KISS1R KMT2B KRAS LGI1 LIMK1 LMNB1 LRRK2 MAMLD1 MAN2B1 MAPK1 MAPT MATR3 MECP2 MEN1 METTL27 MIF MLH1 MLH3 MLXIPL MMP1 MSH2 MSH6 MST1 MSTO1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MYO7A NCF1 NEFH NEK1 NHLH2 NHLRC1 NODAL NOTCH3 NR1H4 NR3C1 NR4A2 NSMF OCRL OPTN P4HA2 PAH PANK2 PARK7 PCDH15 PDCD1 PDE11A PDGFB PDGFRB PDZD7 PER2 PER3 PFN1 PIK3CA PINK1 PLA2G6 PLCH1 PLP1 PMS1 PMS2 PODXL POLG POLG2 PON1 PON2 PON3 PPARGC1A PPP2R2B PPT1 PRKACA PRKAR1A PRKCG PRKN PRNP PROK2 PROKR2 PRPH PSAP PSEN1 PTCH1 PTPN22 PTS PXK RELN RFC2 RPS20 RPS6KA3 RREB1 RRM2B SDHA SEC24C SEMA4A SEMA4D SERPINA1 SGCE SHH SIX3 SLC11A1 SLC20A2 SLC25A4 SLC26A9 SLC2A1 SLC2A3 SLC6A14 SLC6A4 SLC7A6OS SLC9A3 SMC1A SMPD1 SNCA SNCAIP SOD1 SPAST SPP1 SPRY4 SPTBN1 SQSTM1 SRPX2 STAG2 STAT4 STIL STUB1 STX16 STX1A SYNJ1 TAC3 TACR3 TAF15 TARDBP TBC1D7 TBK1 TBL2 TBP TBX1 TCF4 TDGF1 TDO2 TET3 TGFB1 TGFBR2 TGIF1 THOC2 TK2 TLR7 TMEM106B TMEM270 TNFAIP3 TNFSF4 TNIP1 TOR1A TP53 TPH2 TRANK1 TREM2 TREX1 TRHR TSC1 TSC2 TSHB TTC19 TWNK UBE2L3 UBQLN2 UCHL1 UFD1 UNC13A UQCRC1 USH1C USH1G USH2A USP48 USP8 VAPB VCP VPS13A VPS13C VPS35 VPS37D WARS2 WDR11 WFS1 WHRN XK XPR1 ZIC2 HP_DERMAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_ATROPHY ABCC6 ACD ADA2 ADAMTS2 AEBP1 AIP ANAPC1 ARMC5 ATRX B3GALT6 B4GALT7 BGN BRAF C1R C1S CARMIL2 CDH23 CDKN2A CHST14 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COPB1 COX7B CTNNB1 CTSC CUL4B DDB2 DHCR24 DKC1 DLG4 DSE DST ENPP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FBN1 FERMT1 FKBP14 GNAS GSN HCCS IPO8 ITGB4 KLHL24 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMNA LOX LRP1 MGP MMP1 NDUFB11 NR3C1 PARN PDE11A PDGFRB PLEC PLOD1 POLD1 POLH PORCN PRKAR1A RECQL4 RTEL1 SLC39A13 SMAD2 SMAD3 SOX18 SPEN TERC TERT TFAP2A TGFB2 TGFBR1 TGFBR2 TINF2 TNXB TP53 TP63 TWIST2 USB1 USP48 USP8 XPA XPC ZMPSTE24 ZNRF3 HP_DERMAL_TRANSLUCENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_TRANSLUCENCY ADAMTS2 ALDH18A1 B3GALT6 CHD1 COL1A1 COL1A2 COL3A1 COL5A1 CTC1 EFEMP2 ELN FBLN5 FOCAD IARS1 LMNA POLR3A PPP1CB PYCR1 SLC25A24 SMAD3 SOX18 TGFBR1 TGFBR2 TWIST2 ZMPSTE24 HP_DERMATAN_SULFATE_EXCRETION_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATAN_SULFATE_EXCRETION_IN_URINE ARSB ARSK GUSB IDS IDUA HP_DERMATOCHALASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOCHALASIS COL1A1 COL5A1 COL5A2 EFEMP2 FBLN5 KNSTRN LTBP1 PIK3CD HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS ABCA3 ABCB11 ABCB4 ABCC2 ABCC6 ABCD3 ACADVL ACTC1 ACVRL1 ADAMTS13 ADAMTS19 ADAR AGRN AGXT AK9 AKR1D1 ALDOA ALDOB ALG6 AMACR ANK1 APC2 ARL13B ARMC5 ATP11C ATP6AP1 ATP6AP2 ATP7A ATP7B ATP8B1 ATRX BAAT BRAF BRCA1 BRCA2 CA5A CALR CASK CASR CCDC115 CDAN1 CDH23 CDIN1 CDKN2A CFTR CHAT CHRNA1 CHRNB1 CHRND CHRNE CITED2 CLDN1 COG7 COL13A1 COL1A1 COL5A1 COL5A2 COX4I2 CPA1 CPOX CTCF CTRC CYB5A CYB5R3 CYP27A1 CYP7B1 DAXX DCDC2 DEF6 DGUOK DHFR DOK7 DPAGT1 DUOX2 DUOXA2 DZIP1L EIF2AK3 EIF2AK4 ELP1 ENG ENPP1 EPB41 EPB42 EPOR ETFA ETFB ETFDH ETHE1 F5 FCGR3B FLI1 FOCAD FUCA1 G6PD GABRA1 GABRG2 GALE GALK1 GALM GALT GATA4 GATA6 GCLC GH1 GLRX5 GNAS GPI GPR35 GRIK2 GSN GTPBP3 GYPC HBA1 HBB HBG2 HESX1 HK1 HLA-DRB1 HMGCL HNF1B HSD17B10 HSD3B7 HTRA2 HYOU1 IARS1 IER3IP1 IFIH1 IL12A IL12RB1 IL18BP IL2RG IRF5 IYD JAG1 JAK2 KCNN4 KCNQ2 KCNQ3 KIF12 KIF23 KLHL7 KMT2D KMT2E KRAS KRT18 KYNU LBR LHX3 LHX4 LIPA LMNA LPL LRP4 LSM11 LYST MED12 MMACHC MMEL1 MMP21 MPV17 MST1 MT-CYB MUSK MVK MYH6 MYO5B MYO9A NAA10 NBAS NDUFS4 NKX2-5 NKX2-6 NPC1 NPC2 NR1H4 NR3C1 NSD1 NUP214 OCLN PALB2 PALLD PARS2 PAX3 PAX8 PCDH19 PCK1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PIEZO1 PIGA PKD2 PKHD1 PKLR PLD1 PLXND1 POLG POLG2 POU1F1 POU2AF1 PRF1 PRKAG2 PRKAR1A PROC PROP1 PROS1 PRPS1 PRRT2 PRSS1 PRSS2 PSAT1 PTPN3 PUS3 RAB27A RABL3 RAPSN RBM10 RHAG RHCE RHD RINT1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RPS6KA3 SAMHD1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A SEC23B SEMA4D SEPTIN9 SERPINA1 SETD2 SFTPB SFTPC SH2B3 SKIC3 SLC10A1 SLC16A2 SLC18A3 SLC25A1 SLC25A13 SLC25A20 SLC25A3 SLC26A4 SLC2A1 SLC30A10 SLC34A2 SLC37A4 SLC44A1 SLC4A1 SLC51B SLC5A5 SLC5A7 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SNAP25 SP110 SPIB SPINK1 SPOP SPTA1 SPTB SPTBN1 STX11 STXBP2 SYT2 TBX19 TBX20 TCF4 TFAM TG TLL1 TMEM260 TNFSF15 TNPO3 TP53 TPI1 TPO TREX1 TRHR TRMU TSHB TSHR TTC26 TULP3 TXNDC15 UGT1A1 UNC13D UNC45A UROS USP48 USP53 USP8 VAMP1 VHL VIPAS39 VPS33B YARS1 ZFYVE19 ZIC3 ZMPSTE24 HP_DERMOID_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMOID_CYST ALX3 MSX2 SYT1 TFAP2A VANGL1 ZSWIM6 HP_DESCENDING_AORTIC_DISSECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESCENDING_AORTIC_DISSECTION ACTA2 COL3A1 ELN EMILIN1 FBN1 FOXE3 HEY2 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 HP_DESMOID_TUMORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESMOID_TUMORS APC BMPR1A CTNNB1 GREM1 MUTYH SPRED1 HP_DEVELOPMENTAL_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_CATARACT AARS1 ABCA2 ADA2 AGK ALDH18A1 ANAPC1 ARPC4 ATAD3A ATOH7 BCOR BEST1 BFSP2 CARS1 CAV1 COL18A1 COL4A1 COL4A5 CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CTDP1 DOCK6 DPAGT1 EHMT1 ELN ENTPD1 EPG5 EPHA2 ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 ETFA ETFB ETFDH FAM111A FAR1 FBLN5 FZD4 GATA1 GCNT2 GFER GTF2E2 GTF2H5 HEATR3 HMX1 HSPG2 HYCC1 IARS2 IDH1 KANSL1 KCNA4 KCTD1 KMT2C LARGE1 LMNA LONP1 LSS MAF MAFA MAX MED25 MIR204 MPLKIP MSMO1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NDP NEU1 NHS NUP188 OCRL PAX6 PEX11B PEX5 PEX7 PHGDH PIGY PIK3C2A PITX3 PNPT1 POMT1 PSMC3 RAB18 RAB3GAP1 RAB3GAP2 RECQL4 RET RIC1 RNF113A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SDHB SDHD SEC31A SIL1 SIPA1L3 SLC33A1 SMC5 TARS1 TBC1D20 TELO2 TKT TMEM127 TSR2 UBE2A VHL VPS4A HP_DEVELOPMENTAL_GLAUCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_GLAUCOMA ADA2 ADAMTSL1 ADAR AKT1 ATOH7 B3GAT3 CANT1 CHST3 CYP1B1 DAG1 FGFR2 FKRP FKTN FLNA FOXC1 FOXE3 FUT8 FZD4 GATA1 GLIS3 GNAQ HEATR3 IFIH1 LARGE1 LMX1B LSM11 LTBP2 MAB21L1 MAFA NCAPG2 NDP OCRL PAX6 PITX2 POMGNT1 POMT1 POMT2 PTEN PXDN PYCR1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMHD1 SBF2 SH3PXD2B SIX6 SRY TEK TREX1 TSR2 TWIST1 HP_DEVELOPMENTAL_REGRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_REGRESSION AAAS AARS1 AARS2 ACER3 ACOX1 ACTL6B ADA2 ADAR ADGRV1 ADH5 ADNP ADPRS AGA AGTPBP1 AHCY AIFM1 AMFR AMN AP3B2 ARHGEF9 ARSA ARV1 ARX ASAH1 ASPA ATP11A ATP1A2 ATP1A3 ATP5MK ATP6V1A ATP7A BAZ1B BCL7B BICRA BMPR1A BOLA3 BSCL2 BUD23 C4A CACNA1A CACNA1B CACNA1E CACNA2D1 CAD CAMK2B CAMLG CARS2 CASK CCR1 CD40LG CDK19 CDKL5 CELF2 CHD2 CHMP1A CIC CISD2 CLIP2 CLN5 CLN8 CLPB CLTC CNKSR2 CNP CNPY3 COA8 COASY COG8 COQ8A COX15 COX4I1 CRLS1 CTNNB1 CUBN CUX2 CYFIP2 DALRD3 DDB2 DEAF1 DHDDS DMXL2 DNAJC19 DNAJC30 DNM1 DNM1L DNMT3A DPH5 DTYMK EARS2 EEF1A2 EIF2B1 EIF3F EIF4H ELN EPCAM EPRS1 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERLIN2 ETHE1 FAN1 FAR1 FARS2 FAS FBXO28 FBXW7 FDXR FGF12 FGF13 FITM2 FKBP6 FOLR1 FOXG1 FRRS1L FUCA1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRD GABRG2 GALC GAMT GCDH GFAP GFM2 GLA GLB1 GLRX5 GM2A GMPPA GNAO1 GNB1 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HACE1 HCN1 HEPHL1 HEXB HIBCH HLA-B HNRNPH2 HNRNPU HPDL HSD17B10 HSD17B4 HTT IBA57 IDS IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IPO8 IQSEC2 IRF2BPL IRF4 ISCA1 ISCA2 KARS1 KCNA1 KCNA2 KCNB1 KCNQ2 KCNT1 KCNT2 KCTD7 KLRC4 KRAS L2HGDH LETM1 LIMK1 LIPT1 LNPK LRPPRC LSM11 LYRM7 MBTPS2 MECP2 MED27 MEFV METTL27 MFF MLH1 MLH3 MLXIPL MMACHC MRPS34 MSH2 MSH6 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTRFR NACC1 NAGA NALCN NARS2 NAXD NAXE NBEA NCF1 NDP NDUFA2 NDUFA6 NDUFAF6 NDUFC2 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFV1 NDUFV2 NECAP1 NEU1 NEUROD2 NFU1 NGLY1 NRXN1 NTNG1 NTNG2 NTRK2 NUP214 NUP54 NUP62 NUS1 PACS2 PAFAH1B1 PARS2 PCDH19 PCYT2 PDE2A PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHACTR1 PHYH PIGA PIGP PIGQ PIGT PIGY PIK3CA PLA2G6 PLCB1 PLP1 PMPCB PMS1 PMS2 PNKP POC1A POLG POLR3A POLR3B POLR3GL POLR3K PPP2CA PPP3CA PSAP PTCD3 PYCR2 RANBP2 REEP1 RFC2 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROGDI RPS20 SAMHD1 SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHA SDHAF1 SDHB SDHD SELENOI SEMA4A SEMA6B SERAC1 SGPL1 SIK1 SIN3A SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC25A22 SLC25A42 SLC29A3 SLC30A9 SLC32A1 SLC38A3 SLC39A14 SLC9A6 SMARCAL1 SMC1A SMPD1 SON SPTAN1 SPTBN1 ST3GAL3 ST3GAL5 STAT4 STN1 STX1A STX1B STXBP1 SUMF1 SURF1 SYNGAP1 SYNJ1 SZT2 TANC2 TANGO2 TBC1D24 TBC1D2B TBCD TBCE TBCK TBL2 TCEAL1 TCIRG1 TFE3 TGFBR2 TK2 TLR4 TMEM270 TMLHE TNFRSF11A TPK1 TPP1 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2L TRAPPC6B TREM2 TREX1 TRIM8 TTC19 TTPA TUBB4A TUFM TYROBP UBA5 UBAC2 UBTF UGP2 VAC14 VPS37D WARS2 WASF1 WDR45 WFS1 WLS WWOX XPA XPC YWHAG ZBTB18 ZBTB20 ZNF699 HP_DEVELOPMENTAL_STAGNATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_STAGNATION ACAN ACER3 CDKL5 GABBR2 GLB1 MCOLN1 MECP2 NTNG1 NUP62 PHGDH POLR2A PTPN23 RARS1 SATB1 SCN1B SMC1A ST3GAL5 VPS11 ZNHIT3 HP_DEVIATED_NASAL_SEPTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATED_NASAL_SEPTUM CREBBP EP300 EXOSC5 FGFR2 NF1 NONO PAH HP_DEVIATION_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_FINGER ANKRD11 BMP2 BMPR1B CANT1 CHSY1 CSGALNACT1 FLNA FOXP2 GDF5 HNRNPR HOXA13 IFT140 IHH KNSTRN MED12 MED25 OPA3 PIK3CD PTRH2 TGDS HP_DEVIATION_OF_THE_2ND_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_TOE BMP2 BMPR1B CHSY1 GDF5 HNRNPR HP_DEVIATION_OF_THE_3RD_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_3RD_FINGER DLK1 FGFR2 GDF5 IHH KNSTRN MEG3 PIK3CD PKDCC PTRH2 RTL1 HP_DEVIATION_OF_THE_4TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_4TH_FINGER ABCC8 COL11A1 IHH KCNJ11 KNSTRN NARS2 PIK3CD SNRPN HP_DEVIATION_OF_THE_4TH_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_4TH_TOE COG8 FRA10AC1 HEPHL1 NOG RAB3GAP2 HP_DEVIATION_OF_THE_5TH_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_5TH_TOE ALG3 CHSY1 CKAP2L DLEC1 FRA10AC1 HEPHL1 KCNJ2 KCNJ5 PIGH PPP1R15B RAB3GAP2 RNF6 SALL1 TGFBR2 TRMT10A WWOX HP_DEVIATION_OF_THE_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HALLUX ACVR1 AEBP1 AKT1 ATL3 ATP6V1B2 B3GALT6 B3GAT3 BAZ1B BCL7B BMP2 BMPR1B BUD23 C2CD3 CDKL5 CHST11 CHST3 CLIP2 COL1A1 COL1A2 CREBBP CWC27 DNAJC30 DYRK1A EIF4H ELN EP300 ERF ERMARD FGF9 FGFR1 FGFR2 FGFR3 FHL1 FKBP6 GBA1 GDF5 GTF2I GTF2IRD1 GTF2IRD2 H4C9 HEATR3 HOXA13 HOXD13 IL11RA ITCH KAT6A KCNH1 KCNMA1 KCNN3 LIMK1 METTL27 MLXIPL MYH3 NCF1 NFIX NONO NUP107 PCDHGC4 PRDM5 PSMB8 PTEN RBBP8 RFC2 SCARF2 SF3B4 SLC16A2 SLC29A3 SMARCA2 SOX9 SRY STX1A TBC1D2B TBL2 TCF12 TMEM270 TP63 TTI2 TWIST1 USP7 USP9X VPS37D YY1 ZEB2 ZMIZ1 ZNF469 ZNF668 HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND ABCC8 ABL1 ACVR1 ADGRG6 ADNP AFF2 AGO2 AKT1 ALDH1A2 ALG12 ALG9 ALX1 ALX3 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1B ARL6 ASXL3 ATG7 ATN1 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GLCT B9D2 BAP1 BAZ1B BBS1 BCL7B BCOR BCR BGN BHLHA9 BICD2 BLM BLTP1 BMP2 BMP4 BMPR1B BPNT2 BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 CANT1 CASZ1 CBL CCDC22 CCDC28B CCDC32 CCDC47 CCDC8 CCNK CCNQ CD96 CDC42 CDC45 CDC6 CDH11 CDKN1C CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHRNG CHST11 CHST3 CHSY1 CILK1 CITED2 CKAP2L CLCN3 CLIP2 CNOT1 CNOT2 CNOT3 CNTN1 COASY COG1 COG5 COG7 COG8 COL11A1 COL27A1 COL9A1 COL9A2 COL9A3 COMP CPLANE1 CREBBP CRIPT CRKL CRLF1 CSGALNACT1 CSNK2A1 CTCF CTU2 CUL4B CUL7 DACT1 DDX11 DEAF1 DHCR7 DHPS DLK1 DLX3 DNA2 DNAJC30 DOK7 DONSON DPAGT1 DPF2 DPYSL5 DSP DVL1 DVL3 DYM EBP EFNB1 EFTUD2 EIF4A3 EIF4H ELN EMG1 EP300 EPB41L1 ERCC4 ESCO2 EVC EVC2 EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN2 FGD1 FGF16 FGFR2 FGFR3 FKBP6 FLII FLNA FLNB FLT4 FOXP2 FRA10AC1 FZD2 GABRD GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GLI3 GMNN GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H3-3B H4C3 HDAC4 HDAC8 HEATR3 HERC2 HIC1 HMGA2 HNRNPH1 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HPGD HRAS HSPG2 IFT122 IFT140 IFT43 IFT52 IGF1 IGF1R IGF2 IHH IKBKG IQSEC2 IRX5 JAG1 JUP KAT6B KAT8 KCNAB2 KCNH1 KCNJ11 KCNJ2 KCNK4 KCTD1 KDM1A KDM4B KDM6B KDR KIAA0753 KIF7 KIFBP KLF13 KMT2A KMT2B KNSTRN KPTN KRAS L1CAM LAMA5 LBR LEMD3 LIFR LIG4 LIMK1 LMBR1 LMNA LMNB2 LMX1B LONP1 LTBP1 LUZP1 LZTR1 MACROH2A1 MAD2L2 MADD MAF MAFB MAGEL2 MAN1B1 MAN2C1 MAP1B MAP2K1 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MCTP2 MECOM MECP2 MED12 MED25 MEF2C MEG3 MEGF8 METTL27 MGAT2 MIA3 MITF MKRN3 MKS1 MLXIPL MMP23B MOGS MRAS MUSK MYBPC1 MYCN MYH3 MYL11 MYMK MYMX MYOD1 NAA10 NAA20 NALCN NARS2 NCF1 NEDD4L NEK1 NEK9 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NKX3-2 NOG NONO NPAP1 NPR2 NRAS NSD2 NSUN2 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT OPA3 ORC1 ORC4 ORC6 OTUD5 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PAX3 PCDHGC4 PCNT PDE6D PDPN PEX1 PHF21A PHGDH PHIP PI4KA PIEZO2 PIGH PIGL PIGN PIGS PIGY PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLK4 PLOD3 PLXND1 PNPLA6 POLA1 PPP1R21 PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRKDC PRR12 PTEN PTF1A PTH1R PTPN11 PTRH2 PUF60 PWAR1 PWRN1 QRICH1 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM28 RBM8A RECQL RECQL4 RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNU4ATAC ROR2 RPL10 RRAS RRAS2 RSPRY1 RTL1 RUNX2 RYR3 SALL1 SALL4 SAMD9 SATB2 SEMA3E SETBP1 SF3B4 SH3PXD2B SHANK3 SHH SHMT2 SHOX SIAH1 SIK3 SIN3A SKI SLC26A2 SLC2A10 SLC9A7 SLX4 SMAD4 SMARCA2 SMC1A SMC3 SMOC1 SNORD115-1 SNORD116-1 SNRPB SNRPN SOS1 SOS2 SOST SOX4 SOX6 SPART SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP STAG1 STAG2 STX1A TBC1D24 TBL2 TBX1 TBX15 TBX22 TBX4 TBX5 TCF20 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TMEM147 TMEM216 TMEM270 TMEM94 TNNI2 TNNT3 TOPORS TP63 TPM2 TPR TRAIP TRAPPC9 TRIO TRIP13 TRPM3 TRPS1 TRPV4 TRRAP TWIST1 TWIST2 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDR11 WDR19 WDR35 WDR4 WIPI2 WNT5A WNT7A XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZC4H2 ZEB2 ZFPM2 ZIC3 ZMYM2 ZNF292 ZNF462 HP_DEVIATION_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_THUMB ALG12 ALG9 ANKRD11 B3GLCT BAP1 BMP4 BPNT2 BRCA1 BRD4 CDC42 CHSY1 CILK1 CNOT1 CRIPT DHCR7 EFTUD2 EIF4A3 ESCO2 FANCB FGFR2 FLNA FLNB FRA10AC1 GATA4 HDAC8 HEATR3 HOXA13 KCNH1 LONP1 MEGF8 MGAT2 NIPBL NKX3-2 NOG PTRH2 RAD21 RAD51C RECQL RRAS2 SHMT2 SIN3A SLC26A2 SMC1A SMC3 TFAP2A TP63 ZC4H2 ZIC3 ZNF462 HP_DEVIATION_OF_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_TOES ACVR1 AEBP1 AKT1 ALG3 ATL3 ATP2B1 ATP6V1B2 B3GALT6 B3GAT3 BAZ1B BCL7B BMP2 BMPR1B BUD23 C2CD3 CDKL5 CHST11 CHST3 CHSY1 CKAP2L CLIP2 COG8 COL1A1 COL1A2 CREBBP CWC27 DACT1 DLEC1 DNAJC30 DYRK1A EIF4A3 EIF4H ELN EP300 ERF ERMARD EZH2 FGF9 FGFR1 FGFR2 FGFR3 FHL1 FKBP6 FLI1 FLNA FRA10AC1 GBA1 GDF5 GTF2I GTF2IRD1 GTF2IRD2 H4C9 HEATR3 HEPHL1 HNRNPR HOXA13 HOXD13 IL11RA ITCH KAT6A KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 LIMK1 METTL27 MLXIPL MYH3 NCF1 NFIX NOG NONO NUP107 PCDHGC4 PIGH PPP1R15B PRDM5 PSMB8 PTEN RAB3GAP2 RBBP8 RFC2 RFX7 RNF6 RSPRY1 SALL1 SATB2 SCARF2 SF3B4 SLC16A2 SLC29A3 SMARCA2 SOX9 SRY STX1A TBC1D2B TBL2 TCF12 TGFBR2 TMEM270 TP63 TRMT10A TTI2 TWIST1 USP7 USP9X VPS37D WWOX XYLT1 YY1 ZEB2 ZMIZ1 ZNF469 ZNF668 HP_DEXAMETHASONE_SUPPRESSIBLE_PRIMARY_HYPERALDOSTERONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEXAMETHASONE_SUPPRESSIBLE_PRIMARY_HYPERALDOSTERONISM CACNA1D CLCN2 CYP11B1 CYP11B2 KCNJ5 HP_DEXTROTRANSPOSITION_OF_THE_GREAT_ARTERIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEXTROTRANSPOSITION_OF_THE_GREAT_ARTERIES ACVR2B CIROP NODAL SMAD2 SMG9 ZIC3 ZNF462 HP_DIABETES_INSIPIDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETES_INSIPIDUS AKT1 ALMS1 ALX3 AQP2 ARL6 ARNT2 AVP AVPR2 BBS1 BRAF BTNL2 CCDC28B CDON CISD2 CNOT1 CRLS1 CTLA4 CTNNB1 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLA GLI2 GPR161 HESX1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 LHX4 NODAL OCRL OTX2 P4HA2 PLCH1 POU3F4 PROKR2 PRPS1 PRTN3 PTCH1 PTEN PTPN22 ROBO1 SHH SIX3 SMC1A SOX2 SOX3 STAG2 STIL STRADA TDGF1 TGIF1 TP63 TREX1 TTC26 VIPAS39 VPS33B WDR11 WFS1 ZIC2 HP_DIABETES_MELLITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETES_MELLITUS ABCA4 ABCB4 ABCC8 ADA2 ADAR AEBP1 AGBL5 AGPAT2 AHI1 AHR AIP AIRE AKT2 ALMS1 AMACR APOA5 APOE APPL1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARNT2 ATM ATRX BAZ1B BBS1 BBS2 BCL7B BEST1 BLK BLM BMP2 BMP6 BRAF BRCA1 BRCA2 BSCL2 BUD23 CA4 CARS1 CASR CAT CAV1 CAVIN1 CC2D2A CCDC28B CDH23 CDHR1 CDKN2A CDON CEL CELA2A CEP19 CERKL CFAP418 CFTR CIDEC CISD2 CLCNKB CLIP2 CLRN1 CNBP CNGA1 CNGB1 CNOT1 COL2A1 CORIN CP CPA1 CPE CRB1 CRX CTC1 CTLA4 CTNNB1 CTNS CTRC CYP19A1 DCAF17 DHDDS DHX38 DISP1 DKC1 DLK1 DLL1 DMXL2 DNAJC21 DNAJC3 DNAJC30 DNASE2 DNM1L DNMT1 DUT DYRK1B EDA EDA2R EFL1 EIF2AK3 EIF2S3 EIF4H ELMO2 ELN ENPP1 EYS FAM161A FBN1 FCGR3B FGF8 FGFR1 FKBP6 FLT1 FMR1 FOS FOXC2 FOXH1 FOXP1 FOXP3 FOXRED1 FSCN2 FUZ FXN GAS1 GATA3 GATA6 GCGR GCK GFM2 GJA1 GJB3 GJB4 GLI2 GLIS3 GLRX5 GOSR2 GPD2 GPR101 GPR35 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GYG1 HAMP HBB HERC2 HESX1 HFE HGSNAT HJV HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA1 HMGA2 HNF1A HNF1B HNF4A HYMAI IARS1 IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT88 IGF1R IGF2BP2 IGHG2 IGKC IL18BP IL2RA IL6 IMPDH1 IMPG1 IMPG2 INS INSR IRS1 IRS2 ITCH ITPR3 KCNJ11 KCTD1 KDSR KIAA1549 KIZ KLF11 KLHL7 KRAS LEMD3 LEP LEPR LHX1 LIG4 LIMK1 LIPC LIPE LMF1 LMNA LMNB2 LRAT LRBA LRP6 LSM11 MAFA MAGEL2 MAK MAPK8IP1 MC4R MEF2A MEG3 MEN1 MERTK METTL27 MIA3 MICU1 MKKS MKRN3 MLXIPL MMP14 MMP2 MOG MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTNR1B NAA10 NAF1 NCF1 NDN NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NEUROD1 NEUROG3 NHP2 NKX2-5 NODAL NOP10 NOTCH3 NPAP1 NPM1 NR2E3 NR3C1 NRL NSMCE2 NUAK2 NUBPL OCA2 OFD1 OPA1 OTX2 PALB2 PALLD PARN PAX4 PCARE PCBD1 PCNT PDE4D PDE6A PDE6B PDE6G PDX1 PEX1 PEX10 PEX6 PI4KA PIK3R1 PLAGL1 PLCD1 PLIN1 PNPLA2 PNPLA6 POC1A POLA1 POLD1 POLG POLG2 POLR3A POMGNT1 PPARG PPP1R15B PPP1R3A PRCD PRKACA PRKAR1A PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS1 PRSS2 PSTPIP1 PTCH1 PTF1A PTPN1 PTPN22 PTRH2 PWAR1 PWRN1 RABL3 RAC1 RBP3 RDH12 REEP6 RETN RFC2 RFX6 RGR RHO RLBP1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRM2B RTEL1 RTL1 SAG SAMHD1 SARS2 SBDS SCAPER SEMA4A SEMA4D SHH SIM1 SIN3A SIX3 SLC12A3 SLC19A2 SLC25A4 SLC29A3 SLC2A2 SLC30A8 SLC37A4 SLC40A1 SLC7A14 SMAD4 SMPD4 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOX2 SOX3 SPATA7 SPI1 SPINK1 SRP54 STAT1 STAT3 STOX1 STUB1 STX1A SUFU TBL2 TCF4 TCF7L2 TDGF1 TERC TERT TGIF1 THRB TIMMDC1 TINF2 TKT TLR8 TMEM126B TMEM270 TOM1 TOPORS TP53 TREX1 TRMT10A TTC7A TTC8 TTPA TUB TULP1 TWNK TYMS UBR1 USB1 USH2A USP48 USP8 VANGL1 VANGL2 VPS37D WFS1 WRAP53 WRN XRCC4 YIPF5 ZBTB20 ZFP57 ZFYVE26 ZIC2 ZMPSTE24 ZNF408 ZNF513 ZNF668 ZNRF3 HP_DIABETIC_KETOACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETIC_KETOACIDOSIS ABCC8 APPL1 BLK CEL CIDEC CLCNKB GCK HNF1A HNF4A HYMAI INS INSR KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PLAGL1 SLC12A3 ZFP57 HP_DIALEPTIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIALEPTIC_SEIZURE ACSF3 ADGRG1 ADGRV1 ADNP ADPRS AFF3 AGO1 ALDH4A1 ALDH5A1 ALDH7A1 ALMS1 AP2M1 APC2 ARHGEF9 ARX ASAH1 ATAD3A ATP1A3 ATP6V0A1 ATP6V1B2 ATXN10 BRAT1 CACNA1A CACNA1D CACNA1H CACNA2D1 CACNB4 CAMK2A CAMK2B CASK CDH2 CDK13 CDKL5 CEP85L CHD2 CIC CILK1 CLCN2 CLCN4 CLN8 CLPB CNOT1 CNPY3 CNTN2 CNTNAP2 COL3A1 CPA6 CRIPT CSTB CUX2 DEPDC5 DHDDS DHFR DMXL2 DNM1 DNM1L DOCK7 DPM1 DPM3 DYRK1A ECM1 EEF1A2 EFHC1 EHMT1 EPM2A EZH2 FAR1 FBXO28 FGF13 FGFR3 FIG4 FMN2 FRRS1L FZR1 GABBR2 GABRA1 GABRA3 GABRB3 GABRD GABRG2 GAL GAMT GATAD2B GDI1 GJA5 GJA8 GJC2 GLUD1 GNAI1 GNAO1 GNB1 GNB2 GOSR2 GPAA1 GPT2 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 HCN1 HID1 HNRNPK HNRNPU HTT ITPR1 JRK KCNA1 KCNB1 KCNC2 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNT2 KDM6A KDM6B KIF4A KMT2D KPTN LAMA2 LAMC3 LGI1 LGI4 LRP5 MACF1 MAPK10 MAST3 MECP2 MEGF8 MICAL1 MTHFR MTOR MYT1L NADK2 NBEA NEDD4L NEUROD2 NEXMIF NFKB2 NGLY1 NHLRC1 NPRL2 NPRL3 NSD1 NTRK2 NUBPL NUS1 OPHN1 PAFAH1B1 PAK3 PCDH19 PDE2A PGAP1 PGAP2 PHGDH PIGA PIGM PIGP PIGQ PIGT PLCB1 PLPBP PNKP PNPLA8 POGZ PPFIBP1 PPP2CA PPP3CA PRMT7 PRRT2 PTEN RELN RFX7 RNU12 RNU4ATAC RORB SATB1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SETD1B SETD2 SIK1 SLC12A5 SLC25A22 SLC2A1 SLC31A1 SLC32A1 SLC35A3 SLC6A1 SMARCA2 SMPD1 SON SPATA5 SPATA5L1 SRPX2 STRADA STX1B STXBP1 SUPT16H SYNGAP1 SZT2 TANGO2 TBC1D24 TBK1 TGFB1 TICAM1 TLR3 TRAF3 TRIM8 TRMT10A TRPM3 TSC1 TSC2 TUBA1A TUBB2B TUBB3 UBE3A UNC93B1 VPS11 VPS35L WAC WDR26 YWHAG ZBTB18 ZEB2 ZNFX1 HP_DIAPHRAGMATIC_EVENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_EVENTRATION ALDH1A2 ARID2 ASNS CHRNG DNAJC19 GNB2 IGHMBP2 LRP2 MEGF10 MEGF8 MTM1 MYOD1 PLOD3 REEP1 STRA6 TRIP4 WT1 ZNF699 HP_DIAPHRAGMATIC_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_PARALYSIS BAG3 GAA IGHMBP2 MEGF10 MORC2 REEP1 TPI1 HP_DIAPHRAGMATIC_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_WEAKNESS BAG3 CHRNA1 COL12A1 COL6A1 COL6A2 COL6A3 DNAJB4 GAA IGHMBP2 MEGF10 MORC2 PMP22 REEP1 SLC52A3 TPI1 TRPV4 TTN HP_DIAPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_DYSPLASIA NF1 SPRED1 TBXAS1 TMEM165 TMEM53 HP_DIAPHYSEAL_SCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_SCLEROSIS ANO5 CA2 CSF1R GNAS MTAP SOST STX16 TGFB1 TNFSF11 HP_DIAPHYSEAL_THICKENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_THICKENING GUSB IDS IDUA INPPL1 LBR LRP4 LRP5 PTDSS1 RMRP SHOX SLC35D1 SOST SP7 TBXAS1 HP_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIARRHEA ABCB11 ABCB4 ABCD1 ACADM ACAT1 ACSF3 ACSL5 ACTG2 ACVRL1 ADA ADAM17 ADNP AGA AGR2 AIRE AK2 AKR1D1 ALAD ALDH4A1 ALDOB ALG1 ALG2 ALG3 ALG8 ALG9 AMACR ANAPC1 ANO1 ANTXR2 AP1S1 APC ARPC1B ARX ASAH1 ASXL1 ATM ATP1A2 ATP1A3 ATP5F1A ATP6AP1 ATP6V0A1 ATP7A ATP8B1 ATRX AVP B4GALT1 BACH2 BLNK BMPR1A BRCA1 BRCA2 BTD BTK C4B C5 CACNA1A CAD CARD11 CARD8 CARMIL2 CASP8 CAV1 CBL CCDC47 CD109 CD19 CD247 CD3D CD3E CD3G CD40LG CD55 CD79A CD79B CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CFH CFHR1 CFHR3 CFTR CHD7 CIITA CLCNKB CLMP CLPB COG4 COG6 COG7 COX15 CPOX CPT1A CPT2 CR2 CTLA4 CYP27A1 CYP7B1 DAXX DBH DCLRE1C DDC DEF6 DES DGAT1 DMPK DNAJC6 DNASE1L3 DNASE2 DNMT3B DOCK2 DOLK DPM1 ECE1 EDN3 EDNRB EFL1 EGFR ELANE ELF4 ELP1 ENG EPCAM ERBB2 ERBB3 ERCC2 ERCC4 ERCC6 ERCC8 ETHE1 F5 FAH FBP1 FCGR2A FCHO1 FOCAD FOXP3 G6PC1 GALT GATA6 GDNF GFI1 GINS1 GLA GNS GP1BA GP1BB GREM1 GUCY2C HADH HBB HEATR3 HEXB HGSNAT HLA-B HLA-DQA1 HLA-DQB1 HMBS HMGCL HMGCS2 HNF4A HPS1 HS3ST6 HSD3B7 HTRA2 HYOU1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL10RA IL21 IL21R IL2RA IL2RB IL2RG IL37 IL6 IL6ST IL7R IPO8 IRAK1 IRF2BP2 IRF4 ITCH ITGA2 ITGA2B ITGB2 ITGB3 ITGB4 JAK3 KARS1 KCNJ1 KIF1B KIF23 KIT KMT5B KNSTRN KRAS LCK LCT LIG3 LIG4 LIPA LRBA LRRC8A LRRK2 MADD MAOA MC2R MCM10 MCM6 MEFV MEN1 MGME1 MLYCD MPI MPV17 MRAP MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTTP MVK MYD88 MYO5B NAA10 NAGLU NAGS NAXD NBN NCF4 NEUROG3 NFKBIA NGF NHLRC2 NLRC4 NNT NOD2 NR3C2 NRTN NSUN2 OPLAH ORAI1 OTULIN PALB2 PALLD PARK7 PCSK1 PERCC1 PGM1 PHKA2 PHKB PHKG2 PI4KA PIGT PIK3CD PIK3CG PIK3R1 PINK1 PKP1 PLEC PLVAP PMM2 PODXL POLA1 POLG PPP2R5D PRKN PTEN RABL3 RACGAP1 RAG1 RAG2 RBCK1 RECQL4 REL RET RFX5 RFX6 RFXANK RFXAP RIPK1 RMRP RNF113A RNF168 RRM2B RUNX1 RYR3 SAA1 SAMD9 SAR1B SAT1 SCN11A SCN9A SCNN1A SDHD SEMA3C SEMA3D SERPING1 SGSH SI SKIC2 SKIC3 SLC10A2 SLC12A1 SLC12A3 SLC19A2 SLC1A3 SLC22A5 SLC25A13 SLC26A3 SLC35C1 SLC37A4 SLC39A4 SLC39A7 SLC46A1 SLC51A SLC51B SLC5A1 SLC7A7 SLC9A3 SLCO2A1 SMAD4 SMARCD2 SMO SNCA SON SP110 SPI1 SPINT2 SPP1 SREBF1 SRP19 SRP54 SRSF2 STAR STAT1 STAT4 STK11 STX3 SUGCT SYK SYNJ1 TAOK1 TCF3 TCIRG1 TCN2 TERT TET2 TFRC TGFB1 TKFC TLK2 TMPRSS15 TNFRSF13B TNFRSF13C TNFRSF1A TOM1 TP53 TRAC TREH TSHR TTC7A TTR TXNRD2 TYMP UBE3C UCHL1 UNC45A UQCRH USP7 VPS13C VPS45 WAS WDR1 WIPF1 WNT2B ZAP70 ZBTB24 ZFYVE19 ZNFX1 HP_DIASTASIS_RECTI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTASIS_RECTI B3GLCT CDKN1C CHAMP1 CHST14 COLEC10 COLEC11 DLK1 ELMO2 EZH2 FOXF1 GNPTAB GPC3 GPC4 GUSB H19 IGF2 KCNQ1 KCNQ1OT1 MASP1 MEG3 MTOR PIGQ PORCN PPP2R3C RTL1 SHPK SOX6 TBCK HP_DIASTEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTEMA ABCC9 ACTL6B ALX3 ANKRD11 ARSK ATRX CHSY1 DNMT3A FREM1 GATAD2B HMGB3 HRAS IFT57 KCNMA1 KDM5C MGAT2 NHS PACS1 PRKACA RDH11 RNF2 SMC5 STAG1 TCF12 TUBGCP2 UBE3B HP_DICARBOXYLIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DICARBOXYLIC_ACIDURIA ABCD4 ACAD8 ACAD9 ACADM ACADS ACADVL ACSF3 ALAD ALDH6A1 CA5A CD320 COX16 CPOX CPT1A CPT2 D2HGDH DHTKD1 ETFA ETFB ETFDH ETHE1 FH FTCD GATA1 GCDH HADH HCFC1 HMBS HMGCL HPD HSPD1 IDH1 IDH2 L2HGDH LETM1 LMBRD1 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MTR MTRR NDUFS4 NFU1 PEX14 POLG PPOX PRDX1 SCO1 SFXN4 SLC13A3 SLC22A5 SLC25A1 SLC25A20 SLC52A1 SUCLA2 SUCLG1 SUGCT TCN2 TRMU UROS HP_DIFFICULTY_CLIMBING_STAIRS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_CLIMBING_STAIRS ACTA1 ADSS1 ALG14 ALG2 ANO5 BIN1 CAPN3 DAG1 DMD DNA2 DNAJB6 DPAGT1 DYSF FKRP FLNC GAA GFPT1 GMPPB HADHA HADHB KBTBD13 LAMA2 LIPE LRIF1 MEGF10 MFN2 MIEF2 MT-TE MYH7 MYOT MYPN PLEC PLEKHG5 POLG POLG2 POMGNT1 POMK POMT1 POMT2 PYROXD1 RNASEH1 RRM2B RYR1 RYR3 SGCA SGCD SGCG SLC25A4 SPEG TCAP TFG TNNT1 TNPO3 TOR1AIP1 TPM2 TPM3 TTN TWNK VAPB VCP VMA21 WDR62 HP_DIFFICULTY_IN_TONGUE_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS ALS2 ATP13A2 EDN1 FRAS1 GAA GIPC1 GNAI3 LRP12 NOTCH2NLC PLCB4 RILPL1 SBF2 SH3TC2 HP_DIFFICULTY_RUNNING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_RUNNING ADSS1 AGRN ALG14 ALG2 ANO5 ATP2A1 BICD2 BIN1 COL12A1 DNAJB6 DPAGT1 DYNC1H1 DYSF FBXO38 FHL1 FKRP FLNC GFPT1 GMPPB KBTBD13 KCNC3 KY LAMA2 MEGF10 MFN2 MICU1 MORC2 MT-TE MYH7 MYPN NEFL PEX2 PNPLA2 POPDC3 PYROXD1 RAPSN REEP1 RYR1 RYR3 SFXN4 SGCG SPEG STIM1 TCAP TNNT1 TNPO3 TPM2 TPM3 TTN VCP VMA21 YARS1 HP_DIFFICULTY_STANDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_STANDING ABCC8 ATP2B3 CLN8 CYP27B1 CYP2R1 DYM DYSF FAR1 GPAA1 GRIN2A GRM1 KY MYOT SLC34A3 SMS TBCE TFG TK2 TRMT5 VDR WARS2 HP_DIFFICULTY_WALKING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_WALKING AARS1 ABCD1 ABHD5 ACOX1 ACTA1 ACTL6B ADAR ADCY5 AGRN AKT1 ALAD ALG14 ALG2 ALS2 ANO5 AOPEP AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARL6IP1 ARSA ARSI ARV1 ASAH1 ATP13A2 ATP1A2 ATP1A3 ATP5MC3 ATP6V1A ATP7B B4GALNT1 BAP1 BICD2 BIN1 BSCL2 BVES CACNA1A CACNA1B CACNA2D1 CAPN1 CAPN3 CCN6 CDK19 CDK8 CDKL5 CELF2 CHAT CHCHD10 CIZ1 CLTC CNKSR2 COASY COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CPT1C CRPPA CRYAB CSF1R CYFIP2 CYP27A1 CYP27B1 CYP2R1 DAG1 DALRD3 DARS2 DDHD1 DDX6 DES DHDDS DHTKD1 DLAT DMD DNA2 DNM1 DNM1L DNM2 DPAGT1 DYM DYSF EEF1A2 EIF2AK3 EIF2S3 ELOVL5 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 FA2H FBXO28 FBXO38 FDX2 FGF12 FGF13 FGF14 FHL1 FKRP FKTN FLNC FLRT1 FTL FUS FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAN GBA2 GBF1 GFPT1 GIPC1 GJB1 GJC2 GLE1 GMPPB GNS GOSR2 GPAA1 GPT2 GRID2 GRIN2D GYG1 HACE1 HCN1 HERC1 HK1 HPCA HSPB1 HSPB3 HTT IBA57 IFIH1 INTS1 ISCU ITPR3 KBTBD13 KCNA2 KCNB1 KCNC3 KCND3 KCNJ10 KLC2 KLHL41 KLHL9 KPNA3 KY LPIN1 LRP12 LRP4 LSM11 LYSET MARCHF6 MARS1 MATN3 MATR3 MECP2 MED25 MEGF10 MFN2 MICU1 MIEF2 MORC2 MPZ MSTO1 MT-ATP6 MT-CO1 MT-CO3 MTMR14 MTRFR MYF6 MYH7 MYO1H MYO9A MYOT MYPN NACC1 NDUFS8 NEB NECAP1 NEFL NF2 NKX2-1 NKX6-2 NOP56 NOTCH2NLC NPR3 NTRK1 NTRK2 NUBPL NUS1 OBSCN ORAI1 PACS2 PARS2 PDGFB PDK3 PEX6 PGAP1 PI4KA PIK3CA PKP1 PLEKHG5 PLP1 PMP2 PMP22 PNPLA2 POLG2 POMT1 POMT2 PPP3CA PRX PSAP PUS3 PYCR2 RAB11B RARS1 REEP1 RILPL1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 RSPRY1 RTN2 RYR1 SACS SAMHD1 SBF2 SCN3A SCN8A SETX SGCB SGCD SH3TC2 SIGMAR1 SLC13A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC2A3 SLC30A10 SLC30A9 SLC34A3 SLC38A3 SLC5A7 SLC7A6OS SLC9A7 SMARCB1 SMARCE1 SMO SNAP25 SORD SPART SPG11 SPG21 SPTLC1 SQSTM1 STRADA STUB1 SUFU SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TBC1D23 TCAP TERT TGM6 TIA1 TK2 TNNT1 TPK1 TPM2 TPM3 TPP1 TRAF7 TRAK1 TRAPPC11 TREX1 TRPV4 TTBK2 TTN UBA5 UBAP1 USP9X VAMP1 VCP VDR WARS1 WARS2 WASHC5 WDR48 WWOX YARS1 YWHAG HP_DIFFUSE_ALVEOLAR_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE BCOR COL3A1 EIF2AK4 FIP1L1 HMOX1 IRF2BP2 NABP1 NLRC4 NPM1 NUMA1 PML PRKAR1A RARA STAT3 STAT5B TBL1XR1 ZBTB16 HP_DIFFUSE_CEREBELLAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBELLAR_ATROPHY AARS1 BTD CAMLG CARS1 CARS2 DAB1 EMC1 ERCC2 ERCC3 FMR1 GTF2E2 GTF2H5 ITPR1 KIF1A MPLKIP PEX10 PNPT1 RNF113A TARS1 TBC1D24 TXN2 HP_DIFFUSE_CEREBRAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBRAL_ATROPHY ARX ATP13A2 ATP6AP2 BTD CARS2 CASK CDKL5 COG2 COG5 COQ2 CTSF DCDC2 DHCR7 DMXL2 DNM1 DNM1L ERCC6 FARS2 FDXR FMR1 GALC GLB1 GNAO1 GRIN1 GRIN2A GRM7 HSD17B10 HTRA1 KARS1 KCNA1 MED17 MOCS2 NEUROD2 PIGP PIGQ PMPCA PNKP PRKAR1B PSAP RARS1 SCN1B SCN2A SIK1 SLC25A22 SLC32A1 TBC1D24 TBCD TBP TIAM1 TMEM67 TRIM8 UQCRC1 VPS16 WARS2 HP_DIFFUSE_OPTIC_DISC_PALLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_OPTIC_DISC_PALLOR B3GALT6 C1QTNF5 CNGA3 COL18A1 COL4A1 DPAGT1 HGSNAT KLHL7 MMP19 POMGNT1 SCAPER TUB TUBB4B TULP1 ZNF408 HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS AQP5 JUP KLHL24 KRT1 KRT16 KRT9 RHBDF2 SERPINA12 SLURP1 SNAP29 HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES ARX CASK CDKL5 DMXL2 FKRP GLB1 GMPPB GNAO1 GRIN1 GRM7 HEPACAM HERC1 HTRA1 KCNA1 NEUROD2 OSTM1 PIGP PIGQ PLEKHG2 PLP1 PNKP POMGNT1 POMK POMT1 POMT2 RIN2 SCN1B SCN2A SIK1 SLC12A6 SLC25A22 SLC32A1 TIMM50 TRIM8 VPS11 HP_DIGENIC_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGENIC_INHERITANCE ADH5 DNMT3B DYNC2H1 GDF3 GDF6 GJB2 GJB3 GJB6 LRIF1 NEK1 SLCO1B1 SLCO1B3 SMCHD1 TYMS HP_DIGESTIVE_SYSTEM_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGESTIVE_SYSTEM_NEOPLASM AAGAB ABCB11 ABCB4 ABCC8 ABCD1 ACD ACVRL1 ADA2 AHCY AKT1 APC APPL1 ARID1A ARID1B ARID2 ARSA ASCC1 ATP2A2 ATP7A ATP7B ATRX AURKA AXIN1 AXIN2 BAP1 BARD1 BAX BCL10 BLK BLM BMP2 BMP6 BMPR1A BRAF BRCA1 BRCA2 BRIP1 BTK BUB1 BUB1B BUB3 C1S CASP10 CASP8 CC2D2A CCND1 CD19 CD81 CDH1 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEL CEP57 CHEK2 COL14A1 COL4A5 COL4A6 CPOX CR2 CREBBP CTHRC1 CTNNB1 DAXX DCC DICER1 DIS3L2 DKC1 DLC1 DLEC1 DLK1 DOCK8 DPF2 DZIP1L ECE1 EDN3 EDNRB ENG EP300 EPCAM ERBB2 ERBB3 F5 FAH FAN1 FAS FASLG FGFR2 FGFR3 FH FLCN FOXE1 G6PC1 GATA1 GCGR GCK GDF2 GDNF GIMAP5 GNAS GPC3 GPC4 GPR35 GREM1 H19 HABP2 HBB HEATR3 HEPACAM HFE HMBS HNF1A HNF4A ICOS IGF2 IGF2R IL12A IL12RB1 IL1B IL1RN INPP5E INS IRF1 IRF2BP2 IRF5 JAG1 JAK2 KCNJ11 KCNQ1 KCNQ1OT1 KEAP1 KIT KLF11 KLF6 KLLN KRAS KRT5 LMNA LZTS1 MAD1L1 MBD4 MC1R MCC MDM2 MEG3 MEN1 MET MGMT MINPP1 MITF MLH1 MLH3 MMEL1 MPV17 MRE11 MS4A1 MSH2 MSH3 MSH6 MSR1 MST1 MTOR MUTYH MYH11 NAB2 NBN NEUROD1 NF1 NFKB1 NFKB2 NRAS NRTN NTHL1 PALB2 PALLD PAX4 PDE11A PDGFRA PDGFRL PDX1 PHKA2 PHKB PHKG2 PIEZO2 PIK3CA PKHD1 PLA2G2A PMS1 PMS2 POFUT1 POGLUT1 POLD1 POLE POT1 POU2AF1 POU6F2 PPOX PRKAR1A PRKCD PSAP PSENEN PTCH1 PTEN PTPN12 PTPN3 PTPRJ PYGL RABL3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54B RASGRP1 RELA REST RET RHBDF2 RNF43 RNF6 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTL1 SDHA SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SEMA4A SEMA4D SERPINA1 SETBP1 SH3KBP1 SKIC2 SKIC3 SLC25A13 SLC2A2 SLC37A4 SMAD4 SMAD7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SMPD1 SOX11 SOX4 SPIB SPRED1 SPRTN SRC SREBF1 STAT1 STAT6 STK11 TCF4 TERF2IP TERT TGFBR2 TJP2 TLR2 TMEM67 TNFRSF13B TNFRSF13C TNFSF12 TNFSF15 TNPO3 TOM1 TP53 TREX1 TRIM28 TRIP13 TSR2 TULP3 UROD USF3 VHL WRN WT1 WWOX YY1 ZFTA HP_DIGITAL_FLEXOR_TENOSYNOVITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGITAL_FLEXOR_TENOSYNOVITIS CD244 CIITA IL10 NFKBIL1 PTPN22 SLC22A4 TTR HP_DILATATED_INTERNAL_AUDITORY_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATED_INTERNAL_AUDITORY_CANAL EYA1 GJB2 GJB6 POU3F4 SIX1 HP_DILATATION_OF_THE_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_BLADDER ACTG2 AQP2 AVPR2 FOXF1 LMOD1 LRIG2 MYH11 MYL9 MYLK MYOCD NKX2-1 TP63 HP_DILATATION_OF_THE_CEREBRAL_ARTERY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_CEREBRAL_ARTERY ACTA2 ALG5 ALG9 ANGPTL6 BGN BICC1 COL1A1 COL3A1 COL4A1 COL5A1 COL5A2 DNAJB11 ELN ENG FARSB FBN1 FOXE3 GAA GANAB GGCX HEY2 IFT140 IPO8 LOX MAT2A MFAP5 MYH11 MYLK NF1 PCNT PDE11A PKD1 PKD2 PLOD3 PRKAR1A PRKCSH PRKG1 SMAD2 SMAD3 SMAD4 SPTBN1 STAT1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TOM1 TONSL HP_DILATATION_OF_THE_VENTRICULAR_CAVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY ALDH18A1 EFEMP2 ELN FBLN5 FOCAD GMPPB LTBP1 NDE1 NPPA PKP2 RPL10 HP_DILATED_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_CARDIOMYOPATHY ABCC9 ACAD8 ACAD9 ACADVL ACTA1 ACTC1 ACTN2 ADA2 ADCY5 ALMS1 ANKRD1 ANKRD11 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BAG3 BAG5 BBS2 BOLA3 BRCC3 CAP2 CASQ2 CASZ1 CHKB COL7A1 COX7B CPT2 CRYAB CSRP3 DEF6 DES DMD DNAJC19 DOLK DPM3 DSG2 DSP ENPP1 EPG5 ERBB3 EYA4 FHL1 FHL2 FKRP FKTN GABRD GATA5 GATAD1 GLB1 GTPBP3 HADH HADHA HADHB HAMP HAND2 HBB HCCS HJV HMGCL HSPG2 JPH2 JUP KAT6B KCNAB2 KCNJ2 KCNJ5 LAMA3 LAMA4 LAMB3 LAMC2 LAMP2 LDB3 LIMS2 LMNA LMOD2 LRP12 LUZP1 MEFV MGME1 MLYCD MMACHC MMP1 MMP23B MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYBPC3 MYH6 MYH7 MYL2 MYPN NAXD NDUFB11 NEXN NUP107 PDPN PGM1 PLN POLG POLG2 POMT2 PPCS PRDM16 PRKCZ PSEN1 PSEN2 RAF1 RBCK1 RBM20 RERE RNF220 RPL3L RRAGD RRM2B RYR2 SCN5A SDHA SDHD SGCA SGCB SGCD SKI SLC25A4 SLC2A10 SLC5A6 SLC6A6 SPEG SPEN SYNE1 SYNE2 TAF1A TAFAZZIN TCAP TERT TKFC TMEM43 TMPO TNNC1 TNNI3 TNNI3K TNNT2 TOP3A TPM1 TPM3 TRDN TSFM TTN TWNK TXNRD2 UBE4B UBR1 VCL VEZF1 VPS13A XK XRCC4 HP_DILATION_OF_VIRCHOW_ROBIN_SPACES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATION_OF_VIRCHOW_ROBIN_SPACES ALG2 ASXL2 CLCN3 COL4A1 DCX H3-3A H4C9 HTRA1 KMT5B NGLY1 ODC1 PAFAH1B1 PLXNA1 PTEN RIN2 RPL10 SIAH1 ZSWIM6 HP_DIMINISHED_ABILITY_TO_CONCENTRATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_ABILITY_TO_CONCENTRATE DYM EMC10 ERF HERC2 POLG SPTBN1 TBL1X TMEM163 TREX1 TWNK HP_DIMINISHED_MOVEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_MOVEMENT ACTA1 AIFM1 ALG11 ATP13A2 ATP7B CFL2 CHRNA1 CHRND CHRNG CLTC CNTN1 CP DCTN1 DDC DNAJC13 DNAJC6 DOK7 DPAGT1 DPM2 EIF4G1 ERBB3 FGF14 FLVCR2 FRRS1L FXR1 GBA1 GFM1 GIGYF2 GLRA1 GPHN HTT KARS1 KIF21A KLHL40 KLHL41 LAMA2 LAMP2 LGI3 LMOD3 LRRK2 MAPT MPZ MRPS16 MTM1 MUSK MYOD1 NDUFA13 NEB NR4A2 NUP88 PAM16 PANK2 PDE8B PET117 PODXL POLG POLG2 PPP2R2B PRNP RAPSN RRM2B SLC18A3 SLC25A4 SLC2A3 SLC39A14 SLC52A2 SLC6A3 SNCA SYNJ1 TH TMEM240 TOR1A TPM2 TPM3 TSPOAP1 TUBA1A TWNK VPS13C VPS35 WDR45 WWOX HP_DIMPLE_CHIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMPLE_CHIN CHD7 CTU2 EZH2 KCNJ6 MYH3 NALCN PIEZO2 PIK3R1 RUNX2 SEMA3E SMARCA2 SPECC1L TBX22 TFAP2A TWIST2 HP_DISCOID_LUPUS_RASH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISCOID_LUPUS_RASH BANK1 BLK C1QB C1QC C4A C4B CR2 CTLA4 CYBA CYBB DNASE1 ETS1 FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L LEMD3 MECP2 NCF1 NCF2 PDCD1 PTPN22 PXK SAT1 SPP1 STAT4 TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 HP_DISINHIBITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISINHIBITION AARS1 ABCA7 ACTL6B ADAT3 AFF2 AMT AP3B2 APP ARPC4 ARV1 ATP1A2 ATP1A3 ATP6V1A BAZ1B BCL7B BCORL1 BUD23 C19orf12 CACNA1A CACNA1B CACNA2D1 CDH2 CDK19 CDON CELF2 CEP152 CHAMP1 CHCHD10 CHMP2B CLIP2 CLTC CNKSR2 COQ5 CREBBP CYFIP2 DALRD3 DCTN1 DDX59 DEPDC5 DHDDS DISP1 DLL1 DNAJC13 DNAJC30 DNAJC6 DNM1 DNMT1 DPYSL5 EEF1A2 EIF4G1 EIF4H ELN EP300 FBXO28 FBXW11 FGF12 FGF13 FGF8 FKBP6 FMR1 FOXH1 FTL FUS FUZ FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GAS1 GBA1 GIGYF2 GLDC GLI2 GNB2 GRIK2 GRIN2A GRIN2D GRN GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HEPHL1 HIVEP2 HTRA2 HTT IFNG IL1RAPL1 KANSL1 KCNA2 KCNB1 KNL1 LGI1 LIMK1 LRRK2 MAGEL2 MAOA MAPT MED13L METTL27 MLXIPL NAA20 NCF1 NECAP1 NFIB NODAL NONO NTRK1 NTRK2 NUS1 PACS2 PANK2 PARK7 PARS2 PCDH19 PHIP PIGH PINK1 PLA2G6 PODXL POGZ POLA1 PPP3CA PRKN PSEN1 PSEN2 PTCH1 PTCHD1 RELN RFC2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH SIX3 SLC13A5 SLC1A2 SLC1A3 SLC2A3 SLC38A3 SMARCA2 SNCA SORL1 SPAST SPEN SPTBN1 SQSTM1 SRCAP STIL STX1A SUGCT SYNGAP1 SYNJ1 SZT2 TARDBP TBK1 TBL2 TDGF1 TGIF1 TMEM106B TMEM240 TMEM270 TOMM40 TRAK1 TREM2 TSC1 TSC2 TYROBP UBA5 UBTF UCHL1 USP7 VANGL1 VCP VPS13A VPS13C VPS16 VPS35 VPS37D WDR62 WWOX YWHAG ZIC2 HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPLACEMENT_OF_THE_URETHRAL_MEATUS ABL1 ACTA1 ADA2 ADAT3 AFF4 ALG12 ANKRD11 APC2 AR ARCN1 ARID1A ARID1B ARID2 ARL6IP6 ARVCF ARX ATP6AP2 ATR ATRX B3GLCT B9D2 BCOR BDNF BICRA BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1B C2CD3 CARS1 CASZ1 CCDC22 CCDC8 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDKN1C CDT1 CEP152 CHRNA3 CHRNG CILK1 CLMP COG1 COL3A1 COLEC10 COLEC11 COMT COX7B CPLX1 CREBBP CSPP1 CTBP1 CTC1 CUL4B CUL7 CUX1 CYB5A CYP11A1 CYP17A1 CYP21A2 DACT1 DCHS1 DHCR7 DHX37 DKC1 DLL3 DMRT3 DNAJC19 DPF2 DPP9 DPYSL5 DVL1 DVL3 DYNC2LI1 DYRK1A EFNB1 EHMT1 EP300 EPG5 ERCC4 ERMARD ESCO2 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXL4 FDFT1 FGFR1 FGFR2 FGFRL1 FIG4 FLNA FOCAD FOXC1 FOXF1 FRAS1 FREM2 FZD2 GABRD GATA1 GATA4 GATAD2B GLI1 GLI3 GMNN GNA11 GP1BB GPC3 GPC4 GRB10 GRIP1 H4C11 HBA1 HBA2 HCCS HDAC8 HEATR3 HES7 HIRA HMGA2 HNF1B HNRNPH1 HOXA13 HOXD13 HSD3B2 HSPG2 HUWE1 HYLS1 IGF2 ISL1 JMJD1C KANSL1 KAT5 KAT6B KCNAB2 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIAA0753 KIF7 KIFBP KLF1 KLHL40 KLHL41 KMT2D KRAS LETM1 LFNG LIG4 LMNA LMOD3 LRPPRC LSS LUZP1 MAB21L2 MAD2L2 MAMLD1 MAP2K1 MAP3K1 MAPRE2 MBTPS2 MCTP2 MECP2 MED12 MED12L MED25 MESP2 MID1 MKKS MMP23B MNX1 MTM1 MTOR MYMK MYMX MYRF NAA10 NDUFA6 NDUFA8 NDUFB11 NDUFB7 NDUFS4 NEB NELFA NHP2 NIPBL NKX2-1 NOP10 NOTCH2 NPM1 NR0B1 NR5A1 NSD1 NSD2 NSUN2 OBSL1 OGT ORC1 ORC4 ORC6 OTUD5 PAICS PALB2 PARN PAX6 PCNT PDE4D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGG PIGN PITX2 PLAG1 PNPLA6 POLE POLR3A POR PPP1R12A PQBP1 PRDM16 PRKACA PRKACB PRKCZ PRPS1 PSMD12 PSPH PTDSS1 PTPN11 PUF60 RAC1 RAD21 RAD51 RAD51C RAF1 RBBP8 RERE RFWD3 RIPPLY2 RLIM RNU12 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPO1 RTEL1 RTTN SALL1 SAMD9 SCUBE3 SEC24C SETBP1 SETD2 SETD5 SIAH1 SIN3A SIX6 SKI SKIC3 SLC25A10 SLC31A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMS SOX11 SOX2 SOX4 SOX9 SPEN SPTBN1 SRCAP SRD5A2 SRY SSR4 STAR SUCLG1 SYNGAP1 TAPT1 TBX1 TBX22 TCF12 TERC TERT TFAP2A THOC6 TINF2 TMEM63A TMEM70 TMEM94 TONSL TP63 TRIM8 TSR2 TTC8 TUBB TYMS UBA1 UBE2A UBE2T UBE4B UBR1 UFD1 USB1 USP9X VAC14 VAMP7 VPS35L WASHC5 WDR35 WNT4 WNT5A WNT7A WRAP53 WT1 WWOX XRCC2 ZEB2 ZFPM2 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699 HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE ACAN AGPS ALG12 ALG9 ALPL ARCN1 ASXL1 B3GAT3 B3GLCT BMPR1B CANT1 CEP120 CEP57 CFAP410 CHST3 CLPB COG1 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COMP CREB3L1 CRTAP CSGALNACT1 CSPP1 CTSK DDR2 DDRGK1 DHCR24 DHCR7 DVL1 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EVC EVC2 FGFR1 FGFR2 FGFR3 FLNB FZD2 GDF5 GLI1 GNPAT GPC6 GPX4 GSC HDAC6 HS2ST1 HSPG2 IFT122 IFT140 IFT43 IFT52 IFT80 IHH INPPL1 KDELR2 KIAA0586 KIAA0753 KMT2A KYNU LBR MAB21L2 MATN3 MBTPS2 MESD MIR140 MMP13 MTOR MYSM1 NSMCE2 NXN P3H1 PCYT1A PEX7 PKDCC POC1A PPIB PRKACA PRKACB PRKAR1A PRKG2 PTH1R RMRP ROR2 SERPINH1 SHOX SIK3 SLC26A2 SLC35D1 SLC39A8 SOX9 TBX15 TONSL TRIP11 TRPV4 WDR19 WDR35 WNT5A XRCC4 XYLT1 HP_DISPROPORTIONATE_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_STATURE ACAN ACP5 AGPS ALG12 ALG9 ALPL ARCN1 ARSB ARSK ASXL1 B3GAT3 B3GLCT BGN BMPER BMPR1B BRF1 CANT1 CCN6 CEP120 CEP57 CFAP410 CHST3 CLPB COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COMP CREB3L1 CRTAP CSGALNACT1 CSPP1 CTSK DDR2 DDRGK1 DHCR24 DHCR7 DLL3 DVL1 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EVC EVC2 EXTL3 FGFR1 FGFR2 FGFR3 FLNB FN1 FZD2 GALNS GDF5 GLB1 GLI1 GNPAT GPC6 GPX4 GSC HDAC6 HS2ST1 HSPG2 IFT122 IFT140 IFT43 IFT52 IFT80 IHH INPPL1 KDELR2 KIAA0586 KIAA0753 KIF22 KMT2A KYNU LBR MAB21L2 MATN3 MBTPS2 MESD MESP2 MIR140 MMP13 MTOR MYSM1 NKX3-2 NPR2 NSMCE2 NXN P3H1 PCNT PCYT1A PEX7 PHEX PKDCC POC1A PPIB PRKACA PRKACB PRKAR1A PRKG2 PTH1R PUF60 RAB33B RMRP RNU4ATAC ROR2 RSPRY1 SERPINH1 SHOX SIK3 SLC10A7 SLC26A2 SLC35D1 SLC39A8 SMARCAL1 SOX9 TBX15 TBX6 TONSL TRAPPC2 TRIP11 TRPV4 WDR19 WDR35 WNT5A WNT7A XRCC4 XYLT1 XYLT2 HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE ACP5 ARSB ARSK BGN BMPER BRF1 CCN6 CFAP410 CHST3 COL2A1 DLL3 DYM FLNB FN1 GALNS GLB1 KIF22 MESP2 NKX3-2 PUF60 RAB33B RSPRY1 SMARCAL1 TBX6 TRAPPC2 TRIP11 TRPV4 XYLT2 HP_DISPROPORTIONATE_TALL_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_TALL_STATURE AKT1 ASXL3 ATP6V1A ATP6V1E1 CBS CHST14 COL1A2 COL2A1 CPLX1 CTBP1 DLG4 DSE FBN1 FBN2 FKBP14 HERC1 HPGD LARS2 LETM1 LOX MAN2B1 MED12 MFAP5 NELFA NKAP NSD2 PIGG PLOD1 POR PTEN RET SMAD2 SMAD3 SMS TGFBR1 TGFBR2 THSD4 UPF3B ZDHHC9 ZNF469 HP_DISSEMINATED_INTRAVASCULAR_COAGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION BCOR CD46 CFH CFI FIP1L1 HELLPAR IL6ST IRF2BP2 LIPA LPIN1 MT-CO1 MT-CO3 NABP1 NFS1 NLRC4 NPM1 NUMA1 OBSCN PML PRKAR1A PROS1 RARA RASA1 RYR1 SERPIND1 STAT3 STAT5B TBL1XR1 ZBTB16 HP_DISTAL_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_AMYOTROPHY AARS1 ABCA1 ABHD12 ACTA1 ACTN2 ADCY6 ADSS1 AFG3L2 AGL AGRN AIFM1 ALDH18A1 ALS2 ANG ANO5 APTX ASAH1 ATAD3A ATL1 ATL3 ATP1A1 ATP7A ATXN1 ATXN2 ATXN3 B4GALNT1 BICD2 BSCL2 C19orf12 CADM3 CAV3 CCT5 CEP126 CHAT CHCHD10 CHP1 CHRNA1 COA7 COASY COL13A1 COMP CPLANE1 CPT1C CUL4B CYP27A1 DCAF8 DCTN1 DNAJB2 DNM2 DOK7 DYSF EGR2 FBLN5 FGD4 FLNC FLRT1 FUS FXN GAN GARS1 GBA2 GBF1 GDAP1 GIPC1 GJB1 GNB4 GNE HARS1 HINT1 HK1 HNRNPA1 HSPB1 HSPB3 HSPB8 IBA57 IDUA IGHMBP2 INF2 ITPR3 JAG1 JPH1 KANSL1 KDM5C KIF1A KIF1B KIF1C KIF5A KLC2 KLHL9 KRT14 KRT5 LDB3 LITAF LMNA LRP12 LRSAM1 MAG MARS1 MATR3 MED25 MFN2 MME MORC2 MPV17 MPZ MRE11 MSTO1 MT-TE MTMR2 MTRFR MYH14 MYH7 MYO9A MYOT NDRG1 NDUFA9 NEB NEFL NEMF NGLY1 NOTCH2NLC PDK3 PEX10 PHKA1 PIK3R5 PLEKHG5 PLOD3 PMP2 PMP22 PNKP PNPLA6 POLG POMGNT2 PRPS1 PRX PTRH2 RAB7A RAI1 REEP1 RILPL1 RYR1 SACS SBF2 SDHA SDHAF1 SDHB SDHD SETX SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC25A21 SLC25A46 SLC39A13 SLC52A3 SLC5A6 SLC5A7 SMN1 SMN2 SNAP25 SOX10 SPART SPAST SPG11 SPTBN4 SPTLC1 SPTLC2 SQSTM1 STUB1 SVBP SYT2 TBCE TCAP TDP1 TFG TIA1 TIMM8A TNR TOR1AIP1 TPM3 TRIM2 TRPV4 TWNK TYMP VAMP1 VAPB VCP VPS13A VPS13D VRK1 WARS1 YARS1 YY1 ZBTB20 ZC4H2 ZFYVE26 HP_DISTAL_ARTHROGRYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_ARTHROGRYPOSIS ACADM ADCY6 ADGRG1 ATAD1 CCDC47 CHST14 CNTNAP1 FBN2 FIG4 GLDN GLI3 LGI4 MED13L MYBPC1 MYH8 MYO9A MYOD1 NRCAM PI4KA PIEZO2 REEP1 SRPX2 TNNI2 YY1 HP_DISTAL_FEMORAL_METAPHYSEAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_FEMORAL_METAPHYSEAL_ABNORMALITY BMP1 COL10A1 EZH2 PAM16 SETBP1 HP_DISTAL_JOINT_LAXITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_JOINT_LAXITY ALG2 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COMP PLOD1 PYROXD1 HP_DISTAL_LOWER_LIMB_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_AMYOTROPHY AARS1 ADSS1 AIFM1 ALS2 ATL1 ATXN3 B4GALNT1 BICD2 BSCL2 CADM3 CPT1C CUL4B DNAJB2 DYSF FBLN5 FGD4 FLNC FLRT1 GIPC1 GJB1 GNB4 HINT1 HK1 HSPB1 HSPB3 INF2 KDM5C KIF5A KLC2 KRT14 KRT5 LMNA LRP12 MAG MFN2 MME MORC2 MT-TE MTRFR MYH7 NEFL NOTCH2NLC PDK3 PMP22 RAB7A RILPL1 RYR1 SLC12A6 SPG11 TCAP TFG TPM3 TRPV4 WARS1 YY1 HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS ABCD1 ADSS1 AGRN AIFM1 ANO5 ATL1 BICD2 BSCL2 CCND1 CHAT CHCHD10 COL13A1 CPT1C DDHD2 DES DHTKD1 DNM2 DYSF EGR2 EMILIN1 EXTL3 FBLN5 FGD4 FKTN FLNC GARS1 GDAP1 GIPC1 GJB1 GMPPB GNB4 GNE GYG1 HARS1 HINT1 HK1 HSPB1 HSPB3 HSPB8 IBA57 JAG2 KIF1A LMNA LRP12 MAPT MATR3 MFN2 MME MORC2 MPZ MT-ATP6 MTMR14 MTRFR MTTP MYH7 MYO9A NDRG1 NEFL NOTCH2NLC PLEC PMP2 PMP22 PNKP PNPLA6 PRX RAB7A REEP1 RILPL1 SARDH SBF1 SBF2 SCYL1 SECISBP2 SLC12A6 SLC18A3 SLC25A1 SLC5A6 SLC5A7 SMPX SNAP25 SORD SPG11 SPTLC2 SYT2 TCAP TDP1 TPM3 TRPV4 TTN VAMP1 VCP VHL VWA1 WARS1 HP_DISTAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_MUSCLE_WEAKNESS AARS1 ABCA1 ABCD1 ABHD16A ACTA1 ACTN2 ADSS1 AFG3L2 AGRN AIFM1 ALDH18A1 ALG14 ALG2 ALS2 ANG ANO5 ATL1 ATL3 ATP1A1 ATP1A2 ATP7A ATXN1 ATXN3 BAG3 BICD2 BIN1 BSCL2 C19orf12 CACNA1A CADM3 CAV3 CCND1 CHAT CHCHD10 CHP1 COA7 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CPOX CPT1C CRYAB DARS2 DCAF8 DCTN1 DDHD2 DES DGUOK DHH DHTKD1 DNAJB2 DNM2 DNMT1 DPAGT1 DYNC1H1 DYSF EGR2 ELOVL5 EMILIN1 ERLIN2 EXTL3 FBLN5 FGD4 FIG4 FKTN FLNC FLVCR1 FUS GAN GARS1 GBF1 GCH1 GDAP1 GFPT1 GIPC1 GJB1 GMPPB GNB4 GNE GRIA3 GTPBP2 GYG1 HADHA HADHB HARS1 HEXB HINT1 HK1 HMBS HNRNPA1 HNRNPA2B1 HSPB1 HSPB3 HSPB8 IBA57 IGHMBP2 IMPDH2 INF2 ISCU ITPR3 JAG1 JAG2 JPH1 KIF1A KIF1B KLHL9 LAMB2 LAMP2 LDB3 LIG3 LITAF LMNA LRP12 LRSAM1 MAP3K20 MAPT MARS1 MATR3 MCM3AP MED25 MFN2 MLIP MME MORC2 MPV17 MPZ MT-ATP6 MTMR14 MTMR2 MTRFR MTTP MYBPC1 MYH14 MYH2 MYH7 MYMK MYO9A MYOT NAGA NDRG1 NEB NEFL NOTCH2NLC NR4A2 NUTM2B-AS1 OBSCN PABPN1 PEX7 PHKA1 PLEC PLEKHG5 PLIN4 PMP2 PMP22 PNKP PNPLA2 PNPLA6 POLG PPP1R15B PRPS1 PRRT2 PRX PTRH2 RAB7A RAI1 REEP1 RELA RFC1 RILPL1 RRM2B RYR1 SACS SARDH SBF1 SBF2 SCN1A SCYL1 SECISBP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC25A19 SLC25A21 SLC5A6 SLC5A7 SMPX SNAP25 SORD SOX10 SPG11 SPTLC1 SPTLC2 SQSTM1 SYT2 TARDBP TBK1 TCAP TDP1 TIA1 TK2 TNPO3 TNR TOR1AIP1 TPM3 TRMT10A TRPV4 TTN TWNK TYMP UBA1 VAMP1 VAPB VCP VHL VPS13A VPS13D VWA1 WARS1 XRCC1 YARS1 ZC4H2 ZFTA HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY DKK1 GSN HADHA HADHB IBA57 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW SPG11 HP_DISTAL_RENAL_TUBULAR_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS ATP6V0A4 CA2 CLDN16 GATA3 HNF1B SLC4A1 HP_DISTAL_SENSORY_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT AARS1 AASS ABCD1 ABHD12 ADA2 ADCY6 AIFM1 ALDH4A1 APTX ATL1 ATL3 ATP13A2 ATP7A ATXN1 ATXN10 BAG3 BSCL2 C19orf12 CADM3 CAPN1 CAV1 CAV3 CCT5 CHCHD10 COA7 COX6A1 CYP7B1 DARS2 DCAF8 DDHD1 DHH DNAJB2 DNM2 DYNC1H1 EGR2 FBLN5 FGD4 FIG4 GAN GARS1 GBE1 GBF1 GDAP1 GJB1 GJC2 GNB4 HARS1 HINT1 HK1 HSPB1 HSPB8 IARS2 IBA57 IGHMBP2 INF2 ITPR3 JPH1 KARS1 KIF1A KIF1B KIF5A KLHL9 KPNA3 LITAF LMNA LMNB1 LRSAM1 MARS1 MATR3 MCM3AP MED25 MFN2 MME MORC2 MPV17 MPZ MSTO1 MTMR2 MTRFR MTTP MYH14 NAGA NAGLU NDRG1 NEFH NEFL NTRK1 PDK3 PDYN PEX10 PIK3R5 PLEKHG5 PMP2 PMP22 PNKP PNPT1 POLG POLR3A POLR3B PRPS1 PRX RAB7A RAI1 RASA1 REEP1 SACS SAMD9L SBF1 SBF2 SCYL1 SERPINI1 SETX SH3TC2 SLC25A19 SLC25A46 SOX10 SPG11 SPTLC1 SPTLC2 SYT2 TDP1 TFG TK2 TRPV4 TWNK TYMP VCP XPA XRCC1 YARS1 HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES ATL1 CCT5 DHH DMD HINT1 HK1 MFN2 NAGA RNF170 SPTLC1 SPTLC2 HP_DISTAL_SYMPHALANGISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM BMPR1B GDF5 IHH NOG PCNT TFAP2B HP_DISTAL_SYMPHALANGISM_OF_HANDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM_OF_HANDS BMPR1B GDF5 IHH NOG TFAP2B HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS ADSS1 ANO5 ATP1A2 CACNA1A CADM3 DDHD2 DYSF FBLN5 FLNC GDAP1 GIPC1 GMPPB GNB4 HARS1 HK1 HSPB3 JAG2 LMNA LRP12 MLIP MME MORC2 NDRG1 NEFL NOTCH2NLC PRRT2 RILPL1 RYR1 SBF2 SCN1A SMPX SORD SPG11 SPTLC2 SQSTM1 TIA1 TNR TRPV4 TTN VCP VWA1 WARS1 HP_DISTURBANCE_OF_FACIAL_EXPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTURBANCE_OF_FACIAL_EXPRESSION ALDH7A1 ATP1A2 ATXN8OS CACNA1A CP CREBBP DNM2 EP300 GABRA1 GABRG2 GATAD2B GLI3 IRF6 KCNQ2 KCNQ3 LRIG2 MECP2 MSX1 MTMR14 NECTIN1 PANK2 PCDH19 PDE2A PLA2G6 PLPBP PMP22 PNKD PNPT1 PRRT2 SCN1A SCN1B SCN2A SCN9A TP63 TTR HP_DOLICHOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOLICHOCEPHALY ADH5 AGO2 AKT1 ALG14 ALPL ALX4 APC2 ARCN1 ARSB ASH1L ASXL3 ATP6V0A2 ATP6V1B2 ATRX BGN BICRA BLM BRAF BRCA1 BRCA2 BRIP1 CCDC8 CDC42BPB CEP57 CHRNG CILK1 CITED2 CNOT3 CNTN1 CNTNAP1 COL25A1 COL5A1 CPLX1 CTBP1 CUL7 DIS3L2 DLX3 DMXL2 DPH1 DPH2 DYM EBF3 ERCC4 ERF ERGIC1 ERMARD EXOC6B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FGF9 FGFR2 FIG4 FKTN FLT4 GATA4 GATA5 GATA6 GDF1 GJA5 GLI3 GNB2 H3-3B HERC2 HGSNAT HNRNPK HSD17B4 IDS IDUA IFT122 IFT140 IFT43 IFT52 IFT81 IL11RA IL6ST INPPL1 INTS1 IPO8 ITCH JAG1 KATNB1 KCNH1 KCNJ2 KCNJ5 KCNK9 KDM5B KDM6B KDR KIF15 KMT2A KMT2D KMT2E KPTN KRAS LETM1 LTBP4 MAD2L2 MADD MAGEL2 MAN1B1 MGAT2 MKRN3 MN1 MSL3 MTM1 MVK MYH3 NAA20 NDE1 NEDD4L NELFA NFIX NKX2-5 NKX2-6 NOTCH2 NOTCH3 NPAP1 NPR2 NSD1 NSD2 OBSL1 OFD1 OGDHL ORC4 PALB2 PCDHGC4 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIGG PPP2R5D PREPL PRIM1 PRPS1 PSMC1 PTEN PTH1R PWAR1 PWRN1 RAB39B RAD51 RAD51C RAF1 RELN RFWD3 RFX7 RHOBTB2 RNU4ATAC RPL10 RUSC2 RYR1 SCARF2 SCN4A SCNM1 SCO2 SCYL2 SETD2 SHANK3 SKI SLC35D1 SLC3A1 SLC6A9 SLX4 SMAD3 SNAP29 SNORD115-1 SNORD116-1 SOX6 SPTBN1 SUPT16H TAB2 TBC1D7 TBX1 TFAP2A TGFB2 TGFB3 THUMPD1 TMEM216 TMEM53 TRAIP TRIM37 TRIP12 TWIST1 UBE2T VAC14 VDR WDR19 WDR35 XRCC2 YY1 ZFPM2 ZNF142 HP_DORSOCERVICAL_FAT_PAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DORSOCERVICAL_FAT_PAD ALMS1 ARMC5 ATRX BRAF CDH23 GNAS NR3C1 PDE11A PPP1R15B PRKACA PRKAR1A TP53 TRMT10A USP48 USP8 HP_DOUBLE_AORTIC_ARCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOUBLE_AORTIC_ARCH CIROP DGCR2 DGCR6 DGCR8 ESS2 FLT4 GBA1 TBX1 TELO2 HP_DOWNBEAT_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNBEAT_NYSTAGMUS ANO10 CACNA1A COQ2 FAT2 FGF14 PLA2G6 RFC1 HP_DOWNSLANTED_PALPEBRAL_FISSURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNSLANTED_PALPEBRAL_FISSURES AARS1 ABAT ABCA5 ACSL4 ACTB ACTG1 ACTL6B ADAMTS2 ADNP AFF4 AGO1 AHDC1 AKT1 ALDH1A2 ALDH6A1 ALG2 AMMECR1 AMPD2 ANKRD11 AP3B2 AP4E1 APC APC2 ARCN1 ARHGEF2 ARID1B ARID2 ARL6 ARV1 ARVCF ASPH ASXL3 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP AUTS2 B3GAT3 BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCORL1 BGN BICRA BMP2 BMPR1A BPTF BRAF BRPF1 BUB1 BUB1B BUB3 C12orf57 CACNA1A CACNA1B CACNA2D1 CAMK2A CAMTA1 CASK CBL CCDC115 CCDC22 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK19 CELF2 CENPE CENPJ CENPT CEP152 CEP19 CEP290 CEP57 CFAP418 CHD1 CHD7 CHD8 CHRNA7 CHRNG CHST14 CHST3 CKAP2L CLCN3 CLCN4 CLTC CNKSR2 CNTNAP2 COG1 COL11A1 COL11A2 COL5A1 COL9A3 COLEC10 COLEC11 COMT CPLX1 CREBBP CRTAP CSGALNACT1 CTBP1 CTNND2 CUL4B CWC27 CYFIP2 DALRD3 DDX59 DHCR24 DHCR7 DHDDS DHODH DHX30 DMXL2 DNA2 DNAJC21 DNM1 DOCK3 DOK7 DPF2 DPH1 DPH2 DPM1 DPP9 DPYD DPYSL5 DSE DVL1 DVL3 DYNC1H1 DYNC2LI1 EBF3 EBP EDEM3 EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EIF5A EP300 ESCO2 EZH2 FAM20C FBLN5 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FGD1 FGF12 FGF13 FGF3 FGFR1 FGFR2 FGFR3 FHL1 FIBP FLCN FLI1 FLNA FOXG1 FOXP1 FREM1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAD1 GALNT2 GATA4 GJA1 GLE1 GLI3 GMNN GORAB GP1BB GPC3 GPC4 GRIN2D GSC H3-3A H4C5 H4C9 HBA1 HBA2 HCN1 HEATR3 HECTD4 HERC1 HIRA HNRNPH1 HNRNPK HRAS HS6ST2 HUWE1 IDH1 IFT172 IFT27 IFT74 IGBP1 IL11RA IL6ST JARID2 JMJD1C KAT5 KAT6B KCNA2 KCNB1 KCNE5 KCNH1 KCNMA1 KCNN3 KDM1A KDM5B KIF11 KIF15 KIF7 KIFBP KMT2A KMT2D KMT2E KPTN KRAS KREMEN1 LDHD LETM1 LMNA LRP2 LRP4 LTBP1 LZTFL1 LZTR1 MAF MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MASP1 MED12 MED12L MED25 MGAT2 MID1 MKKS MKS1 MN1 MPDZ MRAS MSL3 MTOR MVK MYH3 MYMK MYMX MYOD1 NAA10 NAA20 NALCN NECAP1 NECTIN1 NEK9 NELFA NEXMIF NF1 NFIB NFIX NONO NOTCH2 NOTCH3 NOVA2 NPHP1 NRAS NSD1 NSD2 NSRP1 NTRK2 NUP85 NUS1 NXN ODC1 OFD1 OGDHL ORC6 OSGEP OTUD5 OTUD6B P4HB PACS1 PACS2 PAFAH1B1 PARS2 PAX3 PCGF2 PCNT PDGFRB PEX3 PGM2L1 PHOX2B PIGG PIK3CA PITX1 PKDCC PLK4 PLOD1 POGZ POLR1A POLR1B POLR1C POLR1D POLR3A PPP1CB PPP1R15B PPP2R1A PPP2R5D PPP3CA PRPS1 PRR12 PRRX1 PSMD12 PTCH1 PTEN PTPN11 PURA PUS7 PYCR1 PYCR2 RAB3GAP2 RAF1 RAI1 RAPSN RASA2 RBBP8 RDH11 RECQL4 RERE RIN2 RIT1 RLIM RNF135 RNU4ATAC ROR2 RPS19 RPS28 RPS6KA3 RRAS RRAS2 RREB1 RYR1 SATB1 SATB2 SC5D SCAPER SCLT1 SCN3A SCN4A SCN8A SCNM1 SDCCAG8 SEC24C SEC24D SEMA5A SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B4 SH3PXD2B SHOC2 SIAH1 SIN3A SKI SKIC3 SLC13A5 SLC19A3 SLC1A2 SLC25A24 SLC29A3 SLC2A10 SLC38A3 SLC39A13 SLC45A1 SLC9A7 SLF2 SMARCA2 SMC1A SMOC1 SMPD4 SNAP29 SNRPB SON SOS1 SOS2 SOX5 SPART SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 STAC3 SUPT16H SUZ12 SYNGAP1 SYNJ1 SZT2 TAF1 TASP1 TBR1 TBX1 TCOF1 TFAP2B TFE3 TGFB2 TGFB3 THUMPD1 TMCO1 TMEM147 TMEM237 TNNI2 TNRC6B TRAIP TRAK1 TRIM32 TRIO TRIP13 TRMT10A TSPEAR TSR2 TTC8 TUBB3 TWIST1 TWIST2 UBA5 UBE3A UBR7 UFD1 UMPS UNC80 USP9X VPS13B VPS35L WAC WASHC5 WDPCP WNT5A WWOX YWHAE YWHAG YY1 ZBTB20 ZEB2 ZIC1 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF462 ZSWIM6 HP_DOWNTURNED_CORNERS_OF_MOUTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNTURNED_CORNERS_OF_MOUTH ABCC8 ABL1 AFF3 AFF4 ALX4 ASH1L ATP1A2 ATP1A3 ATP6V1B2 BRD4 BRPF1 CACNA1A CACNA1C CAMTA1 CCDC47 CDC42 CDH11 CDK13 CDK5 CHRNG CNOT3 COLEC10 COLEC11 CPLX1 CSNK2B CTBP1 DCHS1 DHX37 DLK1 DNAJC21 DPF2 DPH5 DVL1 DVL3 EBF3 EEF1A2 EHMT1 EIF2S3 EXT2 FAT4 FBXO11 FGFRL1 FOXP1 FZD2 GCK GK GMPPA GNB2 GPC4 GRB10 H3-3A H4C11 H4C5 HACE1 HDAC4 HDAC8 HERC2 HMGA2 HNRNPK HOXB1 HS6ST2 IGF2 INS INTS1 KAT6A KAT8 KCNH1 KCNJ11 KCNMA1 KDM1A KDM4B KIAA0753 KIF15 KIF7 KMT2D LEMD3 LETM1 LMBR1 MAFB MAGEL2 MASP1 MBD5 MED12L MED13L MEF2C MEG3 MKRN3 MSL3 MYMX NARS2 NDN NELFA NEXMIF NIPBL NOTCH2 NOVA2 NPAP1 NSD2 NTNG2 NXN OCA2 PACS1 PACS2 PCGF2 PCLO PDX1 PGAP2 PGAP3 PHF21A PIGA PIGG PIGL PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3R1 PLOD3 POGZ POLA1 POLR3A PPP1R15B PRKAR1B PRR12 PWAR1 PWRN1 RAB18 RAD21 RLIM RNU4ATAC ROR2 RTL1 SC5D SCNM1 SETD5 SHMT2 SIM1 SLC1A3 SMARCD1 SMC1A SMC3 SMC5 SNORD115-1 SNORD116-1 SNRPN SON SRCAP STAC3 STAT3 TASP1 TBC1D24 TBL1XR1 TCF20 TELO2 TRAPPC9 TRIP12 TRMT10A TWIST2 UBE2A UBR1 WAC WDR37 WDR4 WNT5A ZBTB20 ZC4H2 ZMYM2 ZNF407 ZPR1 ZSWIM6 HP_DOWN_SLOPING_SHOULDERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWN_SLOPING_SHOULDERS ATP7A BAZ1B BCL7B BCOR BUD23 CBFB CHD7 CHRNG CLIP2 CUL4B DNAJC30 EFNB1 EIF4H ELN EYA1 FIG4 FKBP6 GABRA3 GTF2I GTF2IRD1 GTF2IRD2 IRX5 LIMK1 LMBRD2 LMNA METTL27 MLXIPL NAA10 NCF1 OTUD6B PAX1 PIEZO2 PPP1R15B PTCH1 RFC2 RUNX2 SPRTN STX1A TBL2 TBX5 TMEM270 TRMT10A TRPV4 VPS37D HP_DROWSINESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DROWSINESS ABCC8 AGRN AK9 ATP1A2 CACNA1A CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 FBP1 GFAP HCRT HNF1A HNF4A KCNJ11 KIF1A LONP1 LRP4 MAN2B1 MT-CYB MTRR MUSK NAGS NDUFS8 PDHA1 PIGG PTS RAPSN SCN4A SLC13A3 SLC19A3 SLC25A13 SPR THRA UCP2 ZNHIT3 HP_DRUSEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRUSEN ABCC6 ALMS1 APOE C1QTNF5 CFH CFHR1 CFHR3 CFI CTNNA1 EFEMP1 ESPN FBLN5 GUCA1A GUCY2D HMCN1 IFT172 IMPG1 LCA5 LRAT MFRP PRPF8 PRPH2 RPE65 SPATA7 TMEM98 UNC119 XYLT1 XYLT2 HP_DRY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_HAIR ARID1B ASL BCS1L ERCC6 ERCC8 FOCAD GJA1 GNPTAB KRT17 KRT74 LPAR6 OFD1 PADI3 PQBP1 RPL21 SMARCA2 SVBP WNT10A HP_DRY_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_SKIN AARS1 ABCA1 ABCA12 ACD ADA ADAR ALDH3A2 ALG11 ALOX12B ALOXE3 ARNT2 ASPRV1 ATP7A BANF1 BAP1 BRAF CAMK2B CARS1 CASR CAST CAV1 CD28 CDK4 CDKN2A CDKN2B CHD7 CLDN1 CLDN10 COG6 CST6 CSTB CTLA4 CYP4F22 DCLRE1C DDB2 DDOST DOLK DPP9 EDA EDAR EDARADD ELOVL1 ELOVL4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOC2 FDFT1 FGFR1 FLG FLG2 FUCA1 GINS1 GJA1 GJB3 GJB4 GNA11 GNB2 GPNMB GSN GTF2E2 GTF2H5 HESX1 IDH1 IFIH1 IFT43 IL2RG IL7R INSR KANSL1 KCTD1 KDSR KIF11 KIF15 KRAS KRT1 KRT14 KYNU LIG4 LIPN LSM11 MAP2K1 MAP2K2 MAPK1 MBTPS2 MC1R MGMT MITF MPDU1 MPLKIP MYSM1 NAGA NFKBIA NIPAL4 NLRP1 NOD2 NOTCH2 NSUN2 NTRK1 ODC1 OFD1 OSMR OTX2 PAH PAX8 PCNT PEPD PEX11B PEX7 PGM2L1 PHYH PIGL POLH POLR3A POT1 PPP2R3C PRKD1 PROKR2 PTPN11 RAF1 RAG1 RAG2 RALGAPA1 RECQL RIPK4 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNU4ATAC RNU7-1 RYR1 SAMHD1 SASH1 SATB1 SDR9C7 SKIC2 SKIC3 SLC39A4 SLC5A5 SLF2 SMARCAD1 SMG8 SOX2 SOX3 SPEN SPINK5 SPRED2 SRD5A3 STS SULT2B1 TARS1 TERF2IP TERT TGM1 THRA TINF2 TNFRSF1B TP63 TREX1 TRH TRHR TRIP4 TRPM1 TSHB TTC5 TWIST2 UBE2A UVSSA WNT10A WNT10B XPA XPC ZNF341 HP_DUMBBELL_SHAPED_LONG_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUMBBELL_SHAPED_LONG_BONE COL11A1 COL11A2 COL2A1 INPPL1 SLC26A2 SLC35D1 TRPV4 HP_DUODENAL_ADENOCARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ADENOCARCINOMA APC BMPR1A GREM1 MLH1 MSH2 NTHL1 SMAD4 HP_DUODENAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ATRESIA BUB1 BUB1B BUB3 CAMK2A CDON CENPF CEP57 CFAP45 CHD7 DISP1 DLL1 DYRK1A FANCB FANCF FBN2 FGF8 FGFR1 FLI1 FOXF1 FOXH1 GAS1 GLI2 KDM3B MYCN NODAL PIGN PORCN PTCH1 RERE RFWD3 RFX6 RTTN SALL1 SHH SIX3 STAG2 SUFU TDGF1 TGIF1 TRIP13 TTC7A WBP11 ZIC2 ZIC3 HP_DUODENAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_STENOSIS BRCA1 BRCA2 BRIP1 CDC45 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXF1 GATA1 MAD2L2 PALB2 RAD51 RAD51C RARB RFWD3 SLX4 STRA6 TTC7A UBE2T WNT7B XRCC2 HP_DUODENAL_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ULCER ARID1B CDKN1A CDKN1B CDKN2B CDKN2C EP300 MEN1 PLA2G4A PLG SYK XYLT2 HP_DUPLICATED_COLLECTING_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATED_COLLECTING_SYSTEM COL18A1 DHCR7 FANCA FANCC FANCD2 FANCE IARS1 JAG1 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MAPK1 OTUD5 PIGA PIGL POGZ PSMC1 SHOC2 TELO2 TNXB TP63 HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET ABCA12 AHI1 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBS1 BBS12 BBS2 BBS9 BMP4 C2CD3 CASZ1 CBY1 CC2D2A CCDC28B CD96 CEP104 CEP120 CEP290 CEP41 CIBAR1 COMT CPLANE1 CPLX1 CSPP1 CTBP1 DDX59 DHCR7 DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EXTL3 FAM149B1 FGFR2 FGFRL1 GABRD GJA5 GJA8 GLI1 GLI3 GP1BB HEPACAM HIRA HOXD13 HSPG2 HYLS1 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E IQCE JMJD1C KATNIP KCNAB2 KIAA0586 KIAA0753 KIAA0825 KIF7 LBR LETM1 LMBR1 LUZP1 LZTFL1 MAP3K20 MEGF8 MKKS MKS1 MMP23B NEK1 NPHP3 NSD2 OFD1 OTUD5 PDE6D PDPN PIBF1 PIK3CA PITX1 PLAA PORCN PPP2R3C PRDM16 PRKACA PRKACB PRKCZ PTEN RAB23 RERE ROR2 RPGRIP1 RPGRIP1L RREB1 SC5D SCNM1 SEC24C SETD5 SHH SKI SMO SMOC1 SPEN SUFU TBX1 TCTN1 TCTN2 TCTN3 TFAP2B TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TTC21B TXNDC15 UBE4B UFD1 WDR19 WNT5A ZNF141 ZNF423 ZSWIM6 HP_DUPLICATION_OF_HAND_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_HAND_BONES ABCA12 ACOX1 ACTB ACTG1 ADA2 AHI1 AKT3 ALX3 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BHLHA9 BLM BMPR1B C2CD3 CANT1 CBY1 CC2D2A CCDC22 CCDC28B CCND2 CD96 CDC45 CEP104 CEP120 CEP19 CEP290 CEP41 CFAP418 CHD7 CHN1 CHSY1 CIBAR1 COMT CPLANE1 CPLX1 CSPP1 CTBP1 DACT1 DDX59 DEAF1 DHCR7 DPYSL5 DVL1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EFNB1 EFTUD2 ESCO2 EVC EVC2 EXTL3 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FGF10 FGFR2 FGFR3 FGFRL1 FLI1 FLII FLNA FLNB GATA1 GDF5 GJA1 GJA5 GJA8 GLI1 GLI2 GLI3 GP1BB GPC3 GPC4 HEATR3 HEPACAM HESX1 HIRA HOXA13 HOXD13 HYLS1 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E INTU IQCE IQSEC2 JMJD1C KATNIP KIAA0586 KIAA0753 KIAA0825 KIF7 LBR LEMD3 LETM1 LHX3 LHX4 LMBR1 LZTFL1 MAFB MAP3K20 MBTPS2 MEGF8 MKKS MKS1 NAA10 NEK1 NELFA NPHP1 NSD2 NUP107 OFD1 OTUD5 PAH PDE6D PHF8 PIBF1 PIGG PIK3CA PIK3R2 PLAA PNPLA6 PORCN POU1F1 PPP2R3C PRKACA PRKACB PROP1 PTEN PUF60 RAB23 RAI1 RBM10 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 SALL1 SALL4 SC5D SCAPER SCLT1 SCNM1 SDCCAG8 SEC24C SETBP1 SF3B2 SH2B1 SHH SHMT2 SMO SMOC1 SUFU TBX1 TBX3 TBX5 TCTN1 TCTN2 TCTN3 TFAP2A TFAP2B TGFBR1 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TRIM32 TSR2 TTC21B TTC8 TWIST1 TXNDC15 UBE2T UFD1 VPS35L WASHC5 WDPCP WDR19 WDR35 WNT5A WNT7A ZIC3 ZNF141 ZNF423 ZNF699 HP_DUPLICATION_OF_PHALANX_OF_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_PHALANX_OF_HALLUX ACTB C2CD3 CANT1 CREBBP EP300 HYLS1 KIAA0753 KIF7 LMBR1 NEK1 RAB23 TWIST1 HP_DUPLICATION_OF_RENAL_PELVIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_RENAL_PELVIS GPC3 GPC4 KCTD1 SLC6A17 ZEB2 HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND BMPR1B CANT1 DVL1 FGFR2 GDF5 KIF7 LEMD3 LMBR1 PAH PPP2R3C ROR2 TWIST1 WNT5A HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB BMPR1B CANT1 GDF5 KIF7 LMBR1 PAH PPP2R3C HP_DUPLICATION_OF_THUMB_PHALANX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THUMB_PHALANX ACTB ACTG1 ADA2 BCOR BMPR1B CANT1 CHSY1 DACT1 DVL1 ESCO2 FANCA FANCC FANCD2 FANCE FGF10 FGFR2 FGFR3 GATA1 GDF5 GJA5 GJA8 GLI1 GLI3 HEATR3 INTU KIF7 LMBR1 NAA10 NUP107 PAH PPP2R3C RAB23 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL1 SF3B2 SHMT2 SMO TBX5 TSR2 UBE2T HP_DYNEIN_ARM_DEFECT_OF_RESPIRATORY_MOTILE_CILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYNEIN_ARM_DEFECT_OF_RESPIRATORY_MOTILE_CILIA CCDC103 CCDC39 CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF3 DNAAF5 DNAH7 DNAH9 DNAI1 DNAI2 DNAL1 NME8 ODAD1 ODAD3 SPAG1 TTC12 ZMYND10 HP_DYSARTHRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSARTHRIA AAAS AARS1 AARS2 ABCA2 ABCB7 ABCD1 ABHD12 ACBD5 ACTB ADA2 ADAR ADCY5 ADD3 ADGRG1 ADH1C ADPRS AFG3L2 ALAD ALDH18A1 ALDH3A2 ALS2 AMACR ANO10 ANOS1 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 APOE APTX AR ARSA ARX ATCAY ATG5 ATG7 ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP7B ATP8A2 ATPAF1 ATPAF2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH B4GALNT1 BAZ1B BCL7B BEAN1 BIN1 BMPR1A BRAF BUD23 C19orf12 C9orf72 CA8 CACNA1A CACNA1G CACNA2D2 CACNB4 CAMTA1 CAPN1 CARS1 CBL CCDC141 CCDC88C CCNF CERS1 CHAMP1 CHCHD10 CHD3 CHD7 CHRNA1 CHRNE CIITA CISD2 CLDN11 CLIP2 CLN3 CLN5 CLPB CNOT1 COA7 COA8 COASY COLQ COQ2 COX20 CP CPLX1 CSF1R CSTB CTC1 CTSF CWF19L1 CYP27A1 CYP7B1 DAB1 DARS1 DARS2 DCAF17 DCC DCTN1 DCX DDHD2 DEGS1 DLAT DMXL2 DNAJB6 DNAJC30 DNAJC6 DRD3 DUSP6 DYNC1I2 EBF3 EEF2 EIF2AK1 EIF2AK2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF4H ELN ELOVL1 ELOVL4 ELOVL5 EMC10 ENTPD1 EPCAM EPM2A EPRS1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC8 ERLIN1 ERLIN2 EXOSC5 EZH2 FA2H FAN1 FAR1 FARS2 FAT2 FBLN1 FBXL3 FBXO7 FEZF1 FGF14 FGF17 FGF8 FGFR1 FIG4 FKBP6 FLRT1 FLRT3 FMR1 FOXP2 FTL FUS FXN GALC GALT GAN GBA1 GBA2 GBF1 GCDH GCH1 GCLC GDAP2 GFAP GFM2 GFPT1 GIPC1 GJA1 GJB1 GJC2 GLB1 GLE1 GLRX5 GLUD2 GNS GOSR2 GPAA1 GPT2 GRHL3 GRIA1 GRID2 GRIN2A GRM1 GSN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HACE1 HEPACAM HEPHL1 HESX1 HEXB HHAT HMBS HMGCL HOXB1 HPCA HPRT1 HS6ST1 HSD17B10 HSD17B4 HTRA1 HYCC1 IFRD1 IL17RD INPP5K IRF2BPL ITPR1 JAK2 JAM2 JPH3 KCNA1 KCNA4 KCNC3 KCND3 KCTD17 KCTD7 KDM6A KIF1C KLC2 KMT2B KMT2D KRAS LIMK1 LMNB1 LRP12 LYRM7 LZTR1 MAG MAN2B1 MAP2K1 MAP2K2 MAPT MARS1 MARS2 MATR3 MECR MED13L METTL27 MICOS13 MKS1 MLH1 MLH3 MLXIPL MME MMUT MPL MPLKIP MRAS MRE11 MSH2 MSH6 MT-ATP6 MT-ATP8 MT-TE MT-TT MTPAP MTRFR MTTP MVK MYORG MYOT NARS2 NAXE NCF1 NDNF NDUFA6 NDUFA9 NDUFAF5 NDUFAF6 NDUFS7 NDUFS8 NEB NEFH NEFL NEK1 NF2 NFASC NHLRC1 NKX2-1 NKX6-2 NONO NOP56 NOTCH2NLC NOTCH3 NPC1 NPC2 NPPA NR4A2 NRAS NSUN2 NUBPL NUP54 NUP62 NUS1 NUTM2B-AS1 OPA1 OPA3 OPTN PABPN1 PACS1 PANK2 PCGF2 PCNA PDE10A PDE8B PDGFB PDGFRB PDYN PEX10 PEX12 PEX16 PEX2 PEX6 PFN1 PGM3 PI4KA PIEZO2 PIK3CA PIK3R5 PLA2G6 PLD3 PLEKHG4 PLP1 PMM2 PMPCA PMS1 PMS2 PNKD PNKP PNPLA8 PNPT1 POLG POLG2 POLR3A POLR3B POLR3GL POU4F1 PPP1R15B PPP1R21 PPP2R2B PRDM8 PRDX3 PRICKLE1 PRKCG PRKRA PRNP PROK2 PROKR2 PRPH PRPS1 PRRT2 PSAP PSEN1 PTPN11 PUM1 PUS3 RAB39B RAB3GAP2 RAF1 RAI1 RANBP2 RARS1 RASA2 REEP1 REEP2 REPS1 RERE RFC1 RFC2 RFX5 RFXANK RFXAP RILPL1 RIT1 RNASEH1 RNF113A RNF170 RNF216 RNF220 RNU12 RPIA RPS20 RRAS RRAS2 RRM2B RTTN RUBCN RYR1 SACS SAMD9L SATB1 SCARB2 SCN1A SCN5A SCN8A SCO2 SEC31A SELENOI SEMA3A SEMA4A SERPINI1 SETX SH3TC2 SIL1 SLC13A3 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A3 SLC20A2 SLC25A4 SLC25A42 SLC2A1 SLC30A10 SLC35A1 SLC44A1 SLC7A6OS SLC9A1 SMARCAL1 SMS SNAP25 SNCA SNCAIP SNORD118 SOD1 SOS1 SOS2 SOX10 SPART SPAST SPEG SPG11 SPG21 SPG7 SPR SPRED2 SPRY4 SPTBN2 SQSTM1 SRCAP SRPX2 STAC3 STUB1 STX1A SUFU SYNE1 SYNJ1 SYT14 SYT2 TACO1 TACR3 TANGO2 TARDBP TARS1 TBC1D23 TBC1D24 TBCE TBK1 TBL2 TBP TDP1 TECPR2 TGFBR2 TGM6 THAP1 THG1L THPO TIMM8A TK2 TMEM106B TMEM163 TMEM240 TMEM270 TMEM63C TNR TOP3A TOR1A TPK1 TPP1 TRAPPC11 TREX1 TRIM37 TTBK2 TTC19 TTN TTPA TTR TUBB3 TUBB4A TWNK UBA5 UBAP1 UBB UBQLN2 UBTF UCHL1 UROC1 VAMP1 VAPB VCP VLDLR VPS11 VPS13A VPS13D VPS37D VPS41 VWA3B WAC WARS2 WASHC5 WDR11 WDR62 WDR73 WDR81 WFS1 WIPI2 WWOX XK XPR1 XRCC1 XRCC4 ZBTB11 ZC4H2 ZFYVE26 ZNF592 HP_DYSCALCULIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCALCULIA APC2 C9orf72 CACNA1A CHCHD10 CHMP2B CYLD FMR1 FUS GRN HNRNPA1 HNRNPA2B1 MAP1B MAPT NSD1 PNKP PSEN1 SETD2 SQSTM1 SRY TARDBP TBK1 TMEM106B TREM2 VCP HP_DYSCHROMATOPSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCHROMATOPSIA ACO2 AFG3L2 BEST1 C1QTNF5 CEP78 CNGB3 DNM1L FGF14 GRK1 GUCA1A GUCY2D IMPG1 MFSD8 MORC2 MTRFR NR2E3 OPA1 OPA3 OPN1LW OPN1MW OPN1SW PDE6C PDE6H POC1B POLG PROM1 PRPH2 RBP4 SAG TK2 TMEM126A HP_DYSDIADOCHOKINESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSDIADOCHOKINESIS ABCB7 AFG3L2 ATM ATN1 ATXN1 ATXN10 ATXN2 ATXN7 CARS1 CAV1 CCDC88C CLN5 DAB1 ELOVL4 FA2H FMR1 GCH1 GGT1 GJB1 GRID2 GRM1 ITPR1 KCNJ10 LMNB1 MRE11 MSTO1 NFASC PDE8B PDGFB PDGFRB PLA2G6 POLG POLR3B POU3F4 PPP2R2B PRDM13 RFC1 SAMD9L SLC18A2 SLC20A2 SLC25A15 SLC30A10 SLC5A6 SLC9A1 SPG21 SPG7 SPTBN2 SQSTM1 TTC19 TTPA TUBB4A VLDLR WDR81 XRCC1 XRCC4 HP_DYSESTHESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSESTHESIA ABCD1 ALDH4A1 CHST14 DKK1 DSE FMR1 GABRG2 GRIN2A NKX6-2 NLRP3 PEX16 PMP22 PRNP RELA SCN10A SDHA SPTLC2 SRPX2 ZFTA HP_DYSGAMMAGLOBULINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGAMMAGLOBULINEMIA CD40LG IKBKG NBN SH2D1A XIAP HP_DYSGENESIS_OF_THE_BASAL_GANGLIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_BASAL_GANGLIA CAMSAP1 TUBA1A TUBB TUBB2B TUBB3 HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS CSPP1 INPP5E KIAA0586 KIAA0753 ODC1 RAC1 TMEM216 HP_DYSGENESIS_OF_THE_HIPPOCAMPUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS DCC DNAL4 DPYSL5 GABRA1 GABRG2 KDM4B MACF1 NTN1 PCDH19 RAD51 SCN1A SCN1B SCN2A SCN9A TUBA1A TUBB3 HP_DYSGERMINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGERMINOMA AKT1 CDH1 CTNNB1 DHH ERBB2 FGFR2 MAP3K1 OPCML PIK3CA PRKN HP_DYSGRAPHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGRAPHIA ABCA7 APP BAZ1B BCL7B BMPR1A BUD23 CHMP2B CLIP2 DNAJC30 EIF4H ELN EPCAM FAN1 FGF14 FKBP6 GRN GTF2I GTF2IRD1 GTF2IRD2 KRAS LIMK1 MAPT METTL27 MLH1 MLH3 MLXIPL MSH2 MSH6 NCF1 PIK3CA PMS1 PMS2 PSEN1 PSEN2 RFC2 RPS20 SEMA4A SORL1 SOX6 SPG21 SQSTM1 STX1A TBL2 TGFBR2 TMEM106B TMEM240 TMEM270 TOMM40 TREM2 VCP VPS37D HP_DYSGYRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGYRIA LAMB1 MED11 PAFAH1B1 TUBA1A TUBB2B TUBB3 HP_DYSKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSKINESIA AARS1 ACAT1 ACTL6B ADCY5 AGA AP3B2 ARV1 ARX ATG7 ATP13A2 ATP1A2 ATP1A3 ATP6V1A ATXN10 ATXN7 B4GALNT1 BCAS3 BMPR1A C9orf72 CACNA1A CACNA1B CACNA2D1 CAMK2B CASK CDK19 CDKL5 CELF2 CHKA CHMP2B CLTC CNKSR2 COQ2 COX11 CUX2 CYFIP2 CYP27A1 DALRD3 DDX3X DEAF1 DHDDS DMXL2 DNAJC13 DNAJC19 DNAJC6 DNM1 DPYS EEF1A2 EIF4G1 EPCAM EXOSC5 FAN1 FASTKD2 FBXO28 FGF12 FGF13 FGF14 FOXG1 FTL FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GBA1 GBA2 GIGYF2 GNAO1 GNAS GRIN1 GRIN2B GRIN2D GRM7 HCN1 HECW2 HTRA2 INPP5K IREB2 JAM2 KCNA1 KCNA2 KCNB1 KCNN2 KNSTRN KRAS LRPPRC LRRK2 MDH2 MECR MICU1 MLH1 MLH3 MRE11 MRM2 MSH2 MSH6 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NALCN NDUFA13 NDUFS4 NDUFS8 NECAP1 NEUROD2 NMNAT1 NTRK2 NUS1 PACS2 PANK2 PARK7 PARS2 PDE10A PDGFB PGAP1 PIGP PIGQ PIK3CA PIK3CD PINK1 PLA2G6 PLP1 PMS1 PMS2 PNKD PNKP PNPT1 PODXL POLR3K PPP3CA PRKN PRKRA PRRT2 PURA RAB39B RPS20 SCN1B SCN2A SCN3A SCN8A SEMA4A SIK1 SIL1 SLC13A5 SLC16A2 SLC18A2 SLC1A2 SLC25A10 SLC25A22 SLC2A1 SLC30A9 SLC32A1 SLC35A1 SLC38A3 SLC39A14 SLC46A1 SLC6A3 SNCA SQSTM1 STX16 STXBP1 SUOX SYNGAP1 SYNJ1 SYT1 SZT2 TGFBR2 TMEM43 TRAK1 TRIM8 TSEN2 TSEN54 UBA5 UCHL1 UNC80 VPS13A VPS13C VPS35 WARS2 WIPI2 WWOX XK YIF1B YWHAG HP_DYSLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSLEXIA APC CACNA1H CHMP2B DNAAF4 FRMD5 GABRA1 GABRB3 GABRG2 GCLC GRN JRK MAP1B MAPT NIPA1 NIPA2 OPA3 PLA2G6 PNKP PSEN1 SARDH SLC2A1 SPTBN1 SQSTM1 STIM1 TCF12 TMEM106B TREM2 TUBG1 VCP VPS13D VPS41 HP_DYSMENORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMENORRHEA AIP ANTXR1 CDKN1C CYB5A CYP17A1 GPR101 HMGA2 IGF2 LMNA PHKA2 PHKB PHKG2 PLAG1 PPARG HP_DYSMETRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIA AASS ABCB7 ABCD1 ABHD12 ACBD5 ACOX2 ADGRG1 ADPRS AFG3L2 ANO10 AP5Z1 ATG5 ATN1 ATP1A2 ATP1A3 ATP6AP2 ATXN1 ATXN10 ATXN2 ATXN7 B4GALNT1 BAZ1B BCL7B BRAT1 BUD23 CACNA1A CACNA1G CACNA2D2 CAMTA1 CAPN1 CAV1 CCDC88C CHP1 CLIP2 CLN5 COA7 COQ5 CRAT CTDP1 CWF19L1 CYP7B1 DAB1 DEGS1 DNAJC30 EBF3 EIF4H ELN ELOVL1 ERMARD EXOSC5 FA2H FKBP6 FMR1 FXN GBA2 GFAP GJB1 GJC2 GPAA1 GRID2 GRM1 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 HIBCH HTRA1 IFRD1 IRF2BPL ITPR1 KCNC3 KIF1A KIF1C LAGE3 LIG3 LIMK1 LMNB1 LNPK LRPPRC MAG MARS2 METTL27 MLXIPL MRE11 MSTO1 MTTP MYORG NCF1 NDUFAF2 NEU1 NF1 NFASC NGLY1 NOP56 OGDH OPA1 PDGFB PDGFRB PDYN PEX16 PEX2 PI4KA PIK3R5 PITRM1 PLA2G6 PLD3 PLP1 PMM2 PMPCA PMPCB PNPLA8 POLG POLR3A POLR3B POU4F1 PPP2R2B PRDM13 PRICKLE1 PRKCG PRNP PTRH2 PUM1 RARS1 REPS1 RFC1 RFC2 RNASEH1 RRM2B RUSC2 SACS SAMD9L SCN8A SFXN4 SHMT2 SLC13A3 SLC20A2 SLC25A15 SLC25A46 SLC5A6 SLC7A6OS SLC9A1 SMC5 SPART SPG7 SPTBN2 SQSTM1 SRPX2 STUB1 STX1A SYNE1 TBL2 TBP TCTN2 TECPR2 TGM6 TIMMDC1 TMEM106B TMEM270 TMEM63A TOP3A TPP1 TTC19 TTPA TWNK UCHL1 UROC1 VLDLR VPS37D VWA3B WARS2 WASHC5 WDR81 XRCC1 XRCC4 YME1L1 HP_DYSMETRIC_SACCADES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIC_SACCADES AFG3L2 ANO10 ATXN1 ATXN2 ATXN3 ATXN8OS EEF2 ITPR1 MFN2 MRE11 PDYN PEX10 SCYL1 SPTBN2 TGM6 TPP1 UBAP1 HP_DYSOSTOSIS_MULTIPLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSOSTOSIS_MULTIPLEX AGA ARSB CTSA FGFR1 FUCA1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA KRAS LYSET MAN2B1 NAGLU NEU1 SGSH SUMF1 VPS33A HP_DYSPAREUNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPAREUNIA AIP ANOS1 CAV1 CCDC141 CCN2 CCR6 CDH23 CHD7 CLEC7A DCC DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FZD2 HESX1 HLA-B HLA-DRB1 HS6ST1 IKZF1 IL17F IL17RA IL17RC IL17RD IRF5 MEN1 NDNF PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3 TRAF3IP2 WDR11 HP_DYSPHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHAGIA AASS ABCD1 ACOX1 ACTA1 ACTB ACTG2 ADAR ADCY6 ADD3 ADGRG1 ADH1C ADNP AFG3L2 AGRN ALDH18A1 ALDH4A1 ALS2 AMPD2 ANKRD11 ANXA11 AOPEP APOE APP AR ARHGAP29 ARHGEF38 ARX ASAH1 ASCC1 ASPA ATG7 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP7A ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B4GALNT1 BAP1 BMP4 BRAF CACNA1A CACNA1C CACNA1G CAD CARMIL2 CARS2 CASZ1 CAV1 CAVIN1 CCN2 CCR6 CDC73 CDH1 CDON CEP85L CHAT CHCHD10 CHD7 CHMP1A CHRNA1 CHRND CHRNE CLCN1 CLN3 CLN8 CNTNAP1 COBLL1 COL13A1 COL4A5 COL4A6 COL7A1 COLQ COQ2 COQ4 CRLF1 CRYAB CSF1R CSPP1 CTNNB1 CTNS CYP27A1 CYP7B1 DAB1 DCTN1 DCX DDHD2 DES DGUOK DISP1 DKK1 DLG1 DLL1 DLX4 DMPK DNAJB6 DNAJC13 DNM1L DPYSL5 DTYMK DYRK1A DYSF EBF3 ECM1 EIF4G1 EIF5A EPG5 EPRS1 ERLIN2 EXOSC5 EXOSC9 EXT1 EXT2 FA2H FARS2 FBXL4 FBXO28 FBXO7 FERMT1 FGF10 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FKRP FLAD1 FLCN FLNC FMR1 FOXH1 FOXP2 FRG1 FTL FUS FXN GABRD GALC GAS1 GBA1 GBA2 GCDH GCH1 GDAP2 GEMIN4 GFAP GFPT1 GIGYF2 GIPC1 GJB1 GLB1 GLI2 GLUD2 GMPPA GNAO1 GNAQ GNB1 GNB2 GNS GOSR2 GRHL2 GRHL3 GRIN1 GRIN2D GRM1 GRM7 GUCY1A1 HACD1 HEPACAM HEXB HGSNAT HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HOXB1 HPCA HPDL HPRT1 HSD17B10 HSPG2 HTRA1 HTRA2 HTT IDH1 IDH2 IKZF1 IL6ST IPO8 IRF2BPL IRF5 IRF6 ITGA7 JAG1 KAT6A KAT6B KATNB1 KBTBD13 KCNAB2 KCNC3 KCND3 KCNK9 KIAA0319L KIF5A KIT KLHL40 KLHL41 KLHL7 KMT2A KMT2B KY LAMA2 LAMB2 LBR LIFR LIG3 LMNB1 LMOD3 LMX1B LRP12 LRPPRC LRRK2 LUZP1 MACF1 MADD MAN2C1 MAP2K2 MAP3K20 MAPT MATR3 MB MECP2 MECR MED17 MEGF10 MFF MGME1 MID1 MINPP1 MMP1 MMP23B MPZ MRPS25 MRPS28 MRPS34 MSX1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TT MT-TV MT-TW MTHFS MTRFR MUSK MYH11 MYH14 MYH2 MYH8 MYL2 MYMK MYO1H MYO9A MYORG MYOT MYPN NAA10 NCAPG2 NDE1 NDUFA6 NDUFA9 NDUFAF2 NDUFS1 NDUFS3 NEB NECTIN1 NEFH NEFL NEK1 NEU1 NEUROD2 NF1 NF2 NGLY1 NODAL NONO NOP56 NOS1 NOTCH2NLC NOTCH3 NPC1 NPC2 NR4A2 NSRP1 NTRK1 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OPA1 OPTN PABPN1 PANK2 PAX7 PCNA PDE8B PDGFRA PDP1 PDPN PEX1 PEX16 PFN1 PI4KA PIGA PIGN PIK3R5 PLA2G6 PLAA PLCH1 PLEC PLIN4 PLP1 PLXND1 PMP22 PNKD POLG POLG2 POLR3A POLR3B PRDM13 PRDM16 PRDX3 PRKCG PRKCZ PRKRA PRNP PRPH PRPS1 PSAP PSEN1 PTCH1 PTS PUF60 PUS3 PYGM PYROXD1 QDPR RAI1 RARS1 REEP1 RELN REPS1 RERE REV3L RHBDF2 RIC1 RILPL1 RLIM RNASEH1 RNF170 RRM2B SACS SATB1 SATB2 SCARB2 SCN3A SCN4A SCUBE3 SDHA SDHB SDHC SDHD SEC31A SELENON SEPSECS SERPING1 SETBP1 SETX SHH SIGMAR1 SIK1 SIX3 SKI SLC12A2 SLC18A3 SLC19A3 SLC1A3 SLC1A4 SLC25A1 SLC25A22 SLC25A4 SLC2A3 SLC44A1 SLC52A2 SLC52A3 SLC5A7 SLC6A9 SLC9A6 SMC1A SNAP25 SNCA SNCAIP SOD1 SON SPART SPEN SPG11 SPG21 SPG7 SPTBN4 SPTLC1 SQSTM1 SRD5A3 SRPX2 STAG2 STIL STUB1 STXBP1 SYNJ1 SYT14 SYT2 TAF1 TANGO2 TARDBP TBC1D23 TBCD TBK1 TBP TDGF1 TFG TGIF1 TGM6 TIMM8A TK2 TNNT1 TNPO3 TOP3A TOR1A TP63 TPM2 TPM3 TPP1 TRAPPC12 TRAPPC6B TRIO TRIP4 TSEN15 TSEN2 TSEN34 TSEN54 TTBK2 TTC19 TUBB4A TUBB6 TWNK TYMP TYMS UBB UBE3A UBE4B UBQLN2 UBTF UCHL1 UNC45B VAC14 VAMP1 VAPB VARS1 VCP VPS11 VPS13A VPS35 VRK1 WAC WARS2 WASHC5 WFS1 XRCC1 YARS2 YY1 ZC4H2 ZEB2 ZFYVE26 ZIC2 ZMYM2 ZNF699 HP_DYSPHONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHONIA AARS1 ACTB ADGRG1 AGRN ALDH18A1 ALS2 AR ASAH1 ATP5MC3 B4GALNT1 BAZ1B BCL7B BIN1 BUD23 CAPN15 CARS1 CHAT CIZ1 CLIP2 COL13A1 COL6A3 COQ2 CRYAB CYP27A1 DCTN1 DGUOK DLST DNAJB2 DNAJC30 DNMT3A EDA EIF4H ELN EPAS1 ERCC2 ERCC3 FH FIG4 FKBP6 FTL GFAP GNAL GNAS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HK1 HMBS HSPG2 HTRA1 INPP5K KCNK9 KCTD17 KIF1B KMT2B LIMK1 LMNB1 LRP12 MAX MDH2 METTL27 MFN2 MGME1 MLXIPL MPLKIP MYO9A NCF1 NEFH NEU1 NF1 NONO NOTCH3 NUS1 PANK2 PI4KA PLIN4 POLG PRKRA PRPH RARS1 RET RFC2 RNASEH1 RNF113A RRM2B RYR1 SBF2 SDHA SDHAF2 SDHB SDHC SDHD SEC31A SIL1 SLC18A3 SLC25A1 SLC25A11 SLC5A7 SNAP25 SOD1 SPEG SRPX2 STX16 STX1A SYT2 TARS1 TBL2 TGM6 THAP1 TMEM127 TMEM270 TPK1 TTC19 TTN TUBB4A TWNK VAMP1 VHL VPS11 VPS13A VPS37D ZFYVE26 HP_DYSPLASIA_OF_THE_FEMORAL_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASIA_OF_THE_FEMORAL_HEAD B3GALT6 COL2A1 HSPA9 IHH MTX2 TRAPPC2 HP_DYSPLASTIC_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASTIC_CORPUS_CALLOSUM AGTPBP1 ATAD3A ATPAF2 C2orf69 DCHS1 DDB1 DENND5A EARS2 FAT4 GPSM2 HSPA9 KAT5 KIAA0586 LMNB1 MCOLN1 NDUFB7 NONO NSRP1 NT5C2 ODC1 PIGH PIK3C2A PLXNA1 PPP1R12A PRORP PTDSS1 PUS3 RTTN SEPSECS SIN3A SIN3B SON STXBP1 SVBP TBCK THOC6 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 WARS1 HP_DYSPNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPNEA ABCA3 ABCC6 ABCC9 ABCG5 ABCG8 ACADM ACADS ACADVL ACTA1 ACTA2 ACTC1 ACVRL1 ADAMTS13 ADCY6 ADNP AGR2 AGRN AIFM1 AK9 ALAS2 ALG12 ALMS1 ANG ANXA11 APOB ARX ASAH1 ATP11A ATP13A3 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATPAF1 ATPAF2 ATRX ATXN2 B3GALT6 BANF1 BAP1 BCOR BMPER BMPR2 BOLA3 BTD BTNL2 CACNA1A CASR CAV1 CCN2 CCNF CCR6 CDC45 CDC6 CDT1 CFAP410 CFTR CHAT CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CITED2 CLCNKB CLPB CNTNAP1 COA8 COL13A1 COL1A2 COL25A1 COL2A1 COL4A5 COL4A6 COLQ COPA COQ7 COX7B CREBBP CRLF1 CRYAB CSF2RA CSF2RB CSPP1 CYB5A CYB5R3 DAO DBH DCTN1 DHX16 DISC1 DMPK DNA2 DNAAF3 DNAJB4 DNAJB6 DNAJC21 DNASE1L3 DOK7 DPM1 DPM2 DPP9 DSC2 DSG2 DSP DYNC2LI1 EDA EDN1 EFTUD2 EIF2AK4 ELN ENG ENPP1 EOMES EP300 EPHA4 EPHB4 EPOR ERBB4 ERF ERGIC1 ETFA ETFB ETFDH FAM13A FAM20C FBN1 FBP1 FDX2 FGFR1 FGFR2 FGFR3 FIG4 FIP1L1 FLNA FLNC FOXE3 FOXF1 FOXP3 FUS FZR1 GAA GALC GATA4 GATA5 GATA6 GBA1 GJA5 GLA GLE1 GLT8D1 GMNN GNAI3 GNAS GOSR2 GTPBP3 GYG1 HBB HCCS HEY2 HLA-B HLA-DPB1 HLA-DRB1 HLCS HNRNPA1 IDH1 IFIH1 IFNG IFT52 IFT81 IKZF1 IL1RN IL6ST IPO8 IRAK1 IRF2BP2 IRF5 ISCU ITGA3 JAK2 JPH2 KAT6A KATNB1 KCNA1 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNJ6 KCNQ1 KIF20A KIT KLHL24 KLHL7 KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB2 LAMB3 LAMC2 LDLR LDLRAP1 LGI4 LIFR LMNA LONP1 LOX LRP12 LRP4 LTBP3 LYRM4 MAPT MARS1 MAT2A MATR3 MEGF10 MFAP5 MGAT2 MGME1 MMAA MMAB MMACHC MMUT MOGS MPC1 MPV17 MRPL3 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTM1 MUC5B MUSK MYBPC3 MYH11 MYH6 MYH7 MYL2 MYL3 MYL4 MYLK MYO9A MYOZ2 MYPN NABP1 NAGS NDE1 NDUFA8 NDUFB11 NEB NEFH NEK1 NEMF NGLY1 NKX2-1 NKX2-5 NKX2-6 NOD2 NPM1 NPPA NUMA1 NUP155 NUP214 OPTN ORC1 ORC4 ORC6 OTX2 PARN PCSK9 PFN1 PGM1 PIEZO2 PIGA PIGT PITX2 PKP2 PLCB4 PLEC PML PMM2 PNKD PNPLA2 POLG POLG2 POMT1 PON1 PON2 PON3 PPARGC1A PPP1R21 PRKAG2 PRKAR1A PRKCSH PRKG1 PRPH PRRT2 PRRX1 PSAP PUF60 PURA PYGM RAPSN RARA REEP1 RELN RNF13 RNU4ATAC RPS26 RPS28 RRM2B RTEL1 RUNX2 SAT1 SBDS SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SCO2 SCYL2 SDCCAG8 SDHA SERPINA1 SERPING1 SERPINH1 SETBP1 SFTPA1 SFTPA2 SFTPB SFTPC SH2B3 SIK1 SLC12A3 SLC18A3 SLC1A3 SLC22A5 SLC25A1 SLC25A3 SLC25A4 SLC2A10 SLC31A1 SLC34A2 SLC35A1 SLC52A3 SLC5A7 SMAD2 SMAD3 SMAD4 SMARCAL1 SMC5 SMPD1 SNAP25 SNRPN SOD1 SOX9 SPP1 SQSTM1 SRP54 SSR4 STAT3 STAT4 STAT5B STN1 STT3B STX16 SUCLG1 SURF1 SYT2 TAF15 TARDBP TBC1D24 TBK1 TBL1XR1 TBX20 TBX4 TERC TERT TET2 TFAM TFG TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TINF2 TK2 TLL1 TMEM126B TNNC1 TNNI3 TNNT2 TP73 TPI1 TRAK1 TREM2 TRIP11 TRMT10C TRMT5 TRMU TRPM4 TRPV6 TSC1 TSC2 TSFM TTN TUBB4A TWNK UBA1 UBE3B UBQLN2 UNC13A USP9X VAMP1 VAPB VCL VCP VPS33A WAS WDR45B WIPF1 XPNPEP2 YARS2 ZBTB16 ZFPM2 ZIC3 ZMPSTE24 HP_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTONIA AARS1 AARS2 ABCD1 ACADS ACER3 ACOX1 ACSF3 ACTA1 ACTB ADAR ADCY5 ADH1C AFG3L2 AGTPBP1 ALDH18A1 ALDH6A1 ALG2 ALG3 ALG9 ALS2 AMPD2 ANO3 AOPEP AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APOE APTX ARSA ARV1 ARX ATAD3A ATG7 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP5PO ATP7B ATPAF1 ATPAF2 ATXN1 ATXN2 ATXN3 ATXN8OS AUH B3GALT6 B4GALNT1 BCAP31 BCAS3 BSCL2 C19orf12 CABP4 CACNA1A CACNA1B CACNA1E CACNA1G CARS1 CARS2 CASK CASR CDC40 CDK10 CDKL5 CDON CEP85L CHMP2B CHN1 CHRNA2 CHRNA4 CHRNB2 CIZ1 CKAP2L CLCN4 CLPB CLTC CNP CNTNAP1 COASY COL12A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLEC11 COPB1 COQ2 COQ8A COQ9 COX20 CP CPLX1 CRH CRLS1 CTC1 CUX2 CWF19L1 CYB5A CYB5R3 CYP27A1 CYP2U1 DALRD3 DCAF17 DCTN1 DDC DEGS1 DEPDC5 DHDDS DHX30 DISP1 DLAT DLD DLL1 DMXL2 DNAJC12 DNAJC13 DNAJC19 DNAJC6 DNM1L DRD2 DRD5 DTYMK EARS2 ECHS1 ECM1 EFEMP2 EIF2AK2 EIF4G1 EMC1 EPRS1 FA2H FARS2 FBLN1 FBLN5 FBXL4 FBXO7 FGF8 FGFR1 FGFR2 FGFR3 FITM2 FLI1 FOXG1 FOXH1 FOXP2 FRMD5 FRRS1L FTL FUCA1 FUS FXN GABBR2 GABRB2 GAD1 GALT GAMT GAS1 GBA1 GCDH GCH1 GDAP2 GFM2 GIGYF2 GJC2 GLB1 GLE1 GLI2 GLUD2 GM2A GNA11 GNAL GNAO1 GNAS GNB1 GRIA2 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 GSX2 GTPBP2 H4C5 HACE1 HECW2 HEXB HIBCH HINT1 HIVEP2 HK1 HNRNPH1 HPCA HPDL HPRT1 HSD17B10 HSPG2 HTRA2 HTT IFIH1 IMPDH2 IREB2 IRF2BPL ITGA7 JAM2 JPH3 KARS1 KAT6A KCNA1 KCNA4 KCNC3 KCNMA1 KCNN2 KCNQ2 KCNT1 KCTD17 KIF1C KIF21A KMT2B LIPT1 LIPT2 LONP1 LRPPRC LRRK2 LSM11 LTBP1 MAFB MAPT MARS2 MAT1A MCOLN1 MDH2 MECP2 MECR MED23 MED27 MICU1 MMADHC MMUT MOGS MPV17 MRE11 MRPS25 MRPS34 MT-ATP6 MT-ATP8 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TT MT-TV MT-TW MTO1 MYF5 MYORG NAA10 NADK2 NAXD NAXE NBEA NDUFA12 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS3 NDUFS7 NDUFS8 NEK9 NEUROD2 NGLY1 NHLRC2 NKX2-1 NKX6-2 NODAL NPC1 NPC2 NR4A2 NTNG1 NUP54 NUP62 OCLN OFD1 OGDH PANK2 PARK7 PCBD1 PCCA PCCB PCDH12 PCGF2 PDE2A PDGFB PDGFRB PDHA1 PDHX PHOX2A PI4KA PIGP PIGQ PIK3R5 PINK1 PLA2G6 PLAA PLCH1 PLEKHG2 PLP1 PMPCB PNKD PNKP PNPLA8 PNPT1 PODXL POLG POLR1B POLR1C POLR1D POLR3A POLR3B POLR3K PPFIBP1 PPIL1 PPP2R2B PRDM13 PRDX3 PRKAR1B PRKCG PRKN PRKRA PRRT2 PSAP PSEN1 PTCH1 PTS PURA QDPR RAB11B RARS1 REEP1 REPS1 RFX7 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF170 RNU7-1 ROBO3 SALL4 SAMHD1 SCN1A SCN1B SCN2A SCN8A SCO2 SCP2 SDHA SDHB SDHD SEPSECS SERAC1 SETX SGCE SH2B1 SHH SHQ1 SIGMAR1 SIK1 SIX3 SLC13A5 SLC16A2 SLC18A2 SLC19A3 SLC1A3 SLC20A2 SLC25A22 SLC25A42 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC32A1 SLC35B2 SLC39A14 SLC39A8 SLC44A1 SLC6A3 SLC6A8 SLC9A6 SLITRK2 SMC1A SNCA SNCAIP SNORD118 SOX10 SPATA5 SPATA5L1 SPG11 SPOP SPR SPRED1 SPTBN1 SPTLC1 SQSTM1 STAG2 STARD7 STIL STN1 STUB1 STX16 STXBP1 SUCLA2 SUCLG1 SUOX SUPT16H SURF1 SYNE1 SYNGAP1 SYNJ1 SYT1 TACO1 TACSTD2 TAF1 TANGO2 TBC1D24 TBCD TBP TCOF1 TDGF1 TGFB2 TGIF1 TGM6 TH THAP1 TIMM8A TMEM106B TMEM151A TMEM163 TMEM240 TMEM63C TMEM67 TNR TOR1A TPI1 TPK1 TRAPPC11 TRAPPC12 TREX1 TRIM8 TRIT1 TRPM3 TRPV4 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSPOAP1 TTBK2 TTC19 TTPA TUBA1A TUBB2B TUBB3 TUBB4A TWIST1 TXN2 UBA5 UBAP1 UBE3C UBQLN2 UBTF UCHL1 UFC1 UFM1 UGDH UPB1 UQCRQ VAC14 VAMP1 VAMP2 VCP VPS11 VPS13A VPS13C VPS13D VPS16 VPS35 VPS37A VPS41 VPS4A WARS2 WDR45 WDR73 XK YIF1B YY1 ZC4H2 ZIC2 ZNF142 HP_DYSTROPHIC_FINGERNAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_FINGERNAILS AARS1 BRAF CARS1 COL17A1 COL7A1 ERCC2 ERCC3 GTF2E2 GTF2H5 HLA-B HPGD IL6ST ITGB4 KIF1A KRAS KRT74 LMNA MAP2K1 MAP2K2 MBTPS2 MPLKIP NECTIN1 PKP1 RETREG1 RNF113A RUNX2 SCN9A STAT3 TARS1 WNK1 WNT10A ZBTB20 ZMPSTE24 HP_DYSTROPHIC_TOENAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_TOENAIL COL17A1 COL7A1 DST IKBKG ITGB4 KIF1A KLHL24 KRT14 KRT5 KRT74 LMNA NECTIN1 NOTCH1 PERP RAB7A RETREG1 RUNX2 SCN9A SMARCE1 WNK1 WNT10A ZMPSTE24 HP_DYSURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSURIA AGXT AIP ALMS1 APRT BNC2 CARMIL2 CISD2 GPR101 HLA-B HMBS HOGA1 HPRT1 IKZF1 LAMA3 LAMB3 LAMC2 SPART WFS1 HP_EARLY_ONSET_OF_SEXUAL_MATURATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_ONSET_OF_SEXUAL_MATURATION AGPAT2 AIP ALMS1 ARX ASXL3 BAZ1B BCL7B BSCL2 BUD23 CASK CAV1 CAVIN1 CDKL5 CDON CLIP2 CNTNAP2 CPLX1 CREBBP CTBP1 CYP11B1 CYP17A1 DDX3X DEAF1 DHCR7 DISP1 DLK1 DLL1 DMXL2 DNAJC30 DYRK1A EHMT1 EIF4H EIF5A ELN EP300 EXT2 FGF8 FGFRL1 FKBP6 FLI1 FLII FOS FOXH1 FREM1 GAS1 GLI2 GLI3 GNAO1 GNAS GRB10 GRIA1 GRIN1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 H4C5 H6PD HERC2 HNRNPR HRAS HSD11B1 HSD3B2 HYMAI IDH1 IDH2 IFNG INSR IQSEC2 KANSL1 KCNA1 KCNQ2 KCNT1 KDM6A KISS1R KMT2B KMT2C KMT2D KRAS LETM1 LHCGR LIMK1 LMNA LRP5 MAB21L2 MAGEL2 MC2R MEG3 MEN1 METTL27 MIA3 MKRN3 MLXIPL MMP14 MMP2 MRAP MSL3 NCF1 NDN NEUROD2 NF1 NFIX NNT NODAL NPAP1 NR0B1 NR3C1 NRAS NSD2 OCA2 PAPSS2 PCNT PDE11A PIGA PIGF PIGP PIGQ PIGT PLAGL1 PLCB1 PNKP PPARG PRKAR1A PTCH1 PTH1R PWAR1 PWRN1 RAB23 RAI1 RFC2 RTL1 SCN1A SCN1B SCN2A SHH SIK1 SIM1 SIX3 SLC12A5 SLC25A22 SLC32A1 SLC35A2 SMAD4 SNORD115-1 SNORD116-1 SNRPN SOX6 SPEN SRCAP STAR STIL STK11 STX1A TANGO2 TBC1D24 TBL2 TDGF1 TFE3 TGIF1 TMEM270 TNRC6B TONSL TP63 TRIM8 TSC1 TSC2 TXNRD2 USP7 VPS37D ZIC2 ZNF526 HP_EARLY_YOUNG_ADULT_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_YOUNG_ADULT_ONSET ALG10B B2M B4GALNT1 BVES CARD9 CEBPE CLCN1 CNNM2 COL2A1 DGKE DNAJC3 DSP EIF2AK2 ERCC6L2 ESR2 GPIHBP1 GYG1 HCN4 HGSNAT HTRA1 INS KCNA5 KCNE1 KCNH2 KCNJ2 KCNJ5 KCTD17 LHB LIG3 LMNA NRCAM P2RX2 PIK3R5 PMP2 POLG PRKRA PRRT2 REEP1 REEP6 RNF216 RRAGD SCARB2 SELENBP1 SEMA3A SERPINA1 SLC4A4 SMN1 SMN2 SNTA1 SOHLH1 SPTLC1 STAT1 TLR7 TLR8 TOR1AIP1 TPP1 TTN TWNK UNC13D WNT4 HP_EAR_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EAR_PAIN AKT1 BAP1 KRT16 KRT17 KRT6A KRT6B NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_EASY_FATIGABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EASY_FATIGABILITY ACTA1 AGK AGRN AIP AK9 ALG14 ALG2 ATP13A3 BAG3 CALR CASQ1 CCN6 CDH23 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHST11 COL13A1 COLQ CWF19L1 DCC DNAL4 DNM2 DOK7 DPAGT1 FKBP14 GFPT1 GMPPB GTPBP3 HACD1 HNRNPK HSPB3 ISCU ITGA7 JAK2 LAMB2 LDHA LIG3 LRP4 MAP3K20 MEN1 MGME1 MICU1 MPL MTMR14 MUSK MYL2 MYO9A MYPN NARS2 NEB NFE2L2 NTN1 PFKM PNPLA2 POLG POLG2 POMT1 PRKAR1A PYROXD1 RAD51 RAPSN RRM2B RYR1 SCN4A SDHA SDHAF1 SDHB SDHD SELENON SLC18A3 SLC25A1 SLC25A4 SLC25A42 SLC5A7 SNAP25 STIM1 SURF1 SYT2 TDP2 TET2 TGFB1 TMEM126B TPM2 TPM3 TWNK TYMP VAMP1 HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE FREM1 GATA1 JPH2 MYH7 NONO TPM1 YY1 HP_ECCHYMOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECCHYMOSIS AIP ATRX BCOR BRAF CALR CD109 CDH23 CHST14 COL1A1 COL3A1 COL5A1 COL5A2 F13A1 F13B F2 FIP1L1 GBA1 GFI1B GGCX GIMAP5 GP1BA GP1BB GP6 HPS1 HPS6 IFNG IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 MPL NABP1 NPM1 NR3C1 NUMA1 P2RY12 PML PRF1 PRKAR1A RARA SBDS STAT3 STAT5B STX11 STXBP2 TBL1XR1 TBXA2R TERC TERT TET2 TP53 UNC13D USP48 USP8 ZBTB16 HP_ECHOGENIC_FETAL_BOWEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECHOGENIC_FETAL_BOWEL GNB2 KMT2D LBR PIGY ZNF699 HP_ECLABION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECLABION ABCA12 ABHD5 ADAMTS2 ADNP ALOX12B ALOXE3 ANTXR1 AP4B1 AP4E1 AP4M1 AP4S1 ASPRV1 ASXL3 ATRX AXIN2 BAZ1B BCAS3 BCL11A BCL7B BDNF BMP2 BUD23 CCDC8 CDH11 CDKL5 CERS3 CHAMP1 CHN1 CLIC2 CLIP2 CREBBP CUL7 CYP4F22 DENND5A DHX30 DIS3L2 DNAJC30 DNMT3A DOCK7 EDA EDA2R EDAR EDARADD EDNRA EEF1A2 EHMT1 EIF4H ELN EPG5 ERCC1 ERCC2 ERCC5 ERCC6 FBXL4 FBXO11 FGD1 FGFR1 FHL1 FKBP6 FOXC1 FOXG1 FRMD4A GBA1 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C5 H4C9 HGSNAT HRAS HSPG2 IDUA IFT122 IFT43 IFT52 IGF1R IRF6 IRX5 KANSL1 KCNH1 KCNK4 KCNMA1 KIF7 KIFBP KMT2C LIMK1 LIPN LRP6 MAFB MAN1B1 MAP1B MBD5 MCOLN1 MDH1 MECP2 MED12L MED13L MED25 METTL27 MGAT2 MLXIPL MSX1 MYCN MYO18B NAA10 NCF1 NFIX NIPAL4 NRAS OBSL1 OCRL PACS2 PAX6 PAX9 PCDHGC4 PIGL PITX2 PLXND1 POMGNT1 PUS7 QRICH1 RAB3GAP1 RAB3GAP2 RAI1 REV3L RFC2 RIN2 RPL10 RPS6KA3 SALL4 SCARF2 SDR9C7 SETD1A SLC25A24 SMARCA2 SMARCA4 SMG9 SMS SNRPN SOX11 SPECC1L SRCAP STX1A SULT2B1 SUMO1 TBC1D24 TBL1XR1 TBL2 TCF3 TFAP2A TFAP2B TFE3 TGFA TGM1 TMEM147 TMEM270 TNPO2 TTC26 VPS37D WDR19 WDR26 WDR35 WNT10A WNT10B WT1 ZSWIM6 HP_ECTODERMAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTODERMAL_DYSPLASIA ATP6V1B2 AXIN2 CDH3 EDA EDAR EDARADD EVC EVC2 GJB6 HOXC13 IFT122 IFT43 IKBKG KANSL1 KREMEN1 KRT74 KRT85 MBTPS2 NECTIN1 NECTIN4 NFKBIA NLRP1 ORAI1 PKP1 SMARCAD1 TP63 WDR35 WNT10A HP_ECTOPIA_LENTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_LENTIS AASS ADAMTS10 ADAMTS17 ADAMTSL4 ASPH B3GALT6 BAP1 BCOR C12orf57 CBS CHRDL1 COL11A1 COL18A1 COL2A1 COL5A1 CPAMD8 CYSLTR2 ELP4 FBN1 FBN2 GNA11 GNAQ HSPG2 LOXL1 LTBP2 MOCS1 MOCS2 NDP P3H2 PAK2 PAX2 PAX6 PCYT1A PORCN SALL2 SF3B1 SMAD3 SUOX TAP1 TAP2 TAPBP TGFB2 TGFBR1 TGFBR2 WT1 HP_ECTOPIA_PUPILLAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_PUPILLAE ADAMTSL4 COL4A1 COL8A2 CPAMD8 CPLX1 CTBP1 FBN1 FGFRL1 FOXC1 GRHL2 LETM1 MAB21L2 NSD2 OVOL2 PAX6 PCYT1A PITX2 RHOA TBX2 VSX1 WT1 ZEB1 ZEB2 HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND FOXA2 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1 SOX3 HP_ECTOPIC_ANUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANUS ACADVL ATN1 B3GLCT C2CD3 CCDC22 CDC45 CDH11 CDK8 CDON CHD4 COX7B DACT1 DCHS1 DDB1 DDX3X DDX6 DISP1 DLL1 DPYSL5 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 ERCC4 ESCO2 FAT4 FGF8 FGFR2 FLI1 FOXH1 FRAS1 FREM1 FREM2 GAS1 GDF3 GDF6 GLI2 GLI3 GRIP1 HCCS HES7 IFT80 KAT6B KYNU LRPPRC MED12 MEOX1 MID1 MKKS NDUFB11 NFIX NODAL NXN PGAP2 PGAP3 PIGL PIGN PIGO PIGV PIGW PIGY POR PORCN PTCH1 PTDSS1 RECQL4 RFX6 RNU12 ROBO1 ROR2 RRAS2 SALL1 SETBP1 SHH SIX3 SLC25A24 SNRPB STIL SUZ12 TBX3 TDGF1 TGIF1 TP63 TWIST2 UBR1 VPS35L WASHC5 WDR35 ZIC2 ZIC3 HP_ECTOPIC_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_CALCIFICATION ABCC6 ABCG5 ABCG8 ACD ACP5 ACVR1 ADAR AGPS AGXT AIRE ALPL AMER1 ANKH AP1S2 AP2S1 APOB APP ARSL ATOH7 ATP7A ATP7B B2M BMPR1B BRAF CA2 CASR CCN6 CDC73 CFTR CLCNKB COL11A1 COL2A1 COL9A1 COLGALT1 CPA1 CPT2 CSF1R CTC1 CTNNB1 CTNS CTRC CTSC CYP11A1 CYP2U1 DAG1 DDR2 DENND5A DHCR7 DKC1 DLK1 DNM1L EBP ECM1 ENPP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOSC2 FAM111A FAM20C FARSB FBN1 FGF23 FGFR1 FLNB FXYD2 FZD4 GALNT3 GATA3 GATA5 GBA1 GCM2 GDF5 GGCX GJA1 GNA11 GNAQ GNAS GNPAT GUSB HGD HLA-DQA1 HLA-DQB1 HRAS HSD17B4 HYAL1 IFIH1 IFNG IRF8 ISG15 JAM2 KARS1 KATNB1 KCNJ1 KL KRAS KRIT1 LBR LDLR LDLRAP1 LEMD3 LIPA LMNA LRP5 LSM11 MEFV MEG3 MEN1 MGP MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTX2 MYMK MYMX MYO5A MYORG NDE1 NDP NEU1 NHP2 NKX2-5 NOP10 NOTCH1 NOTCH3 NPM1 NRAS NSDHL NSMCE3 NT5E OCLN ODC1 OPA1 PAH PARN PCSK9 PDE4D PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PI4KA POT1 PPFIBP1 PRKAR1A PRSS1 PRSS2 PSMB8 PSMC3 PSMG2 PTCH1 PTCH2 PTH PTH1R QDPR RAB39B RB1 RELN RIGI RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU7-1 RTEL1 RTL1 SAMHD1 SC5D SLC12A1 SLC12A3 SLC20A2 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC34A2 SLC46A1 SLC4A4 SMAD6 SMARCB1 SNORD118 SNRPB SPINK1 STAT1 STAT2 STX16 SUCLA2 SUFU TCIRG1 TERC TERT THRB TINF2 TNFRSF11A TNFRSF11B TNFRSF1A TOM1 TREM2 TREX1 TSC1 TSC2 TTC7A TYMS TYROBP USB1 USP18 VPS33A VPS35L WRAP53 WRN WWOX XPR1 ZBTB20 ZMPSTE24 ZNFX1 ZSWIM6 HP_ECTOPIC_KIDNEY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_KIDNEY ADAMTS3 APC ARID1B BAZ1B BCL7B BUD23 CCBE1 CCNQ CDC42BPB CHN1 CLIP2 CTU2 DACT1 DDX59 DDX6 DNA2 DNAJC30 DYRK1A EBP EIF4H ELN FANCA FANCC FANCD2 FANCE FANCF FAT4 FGFR1 FKBP6 FUZ GLI3 GNB2 GTF2I GTF2IRD1 GTF2IRD2 HMGA2 HNF1B HOXD13 JAM3 KDM6A KMT2D KNSTRN LEMD3 LIMK1 LRP4 MAFB METTL27 MLXIPL NCF1 NIPBL NRIP1 PBX1 PIK3CD PUF60 RAD51 RBBP8 RFC2 RIPK4 RPS26 RTTN SALL1 SALL4 SF3B2 SLX4 SMS SNRPB SPECC1L SPINK5 STRA6 STX1A TBL2 TMEM270 USP9X VANGL1 VPS37D WAC WNT4 WT1 XRCC2 XRCC4 ZEB2 ZMYM2 HP_ECTOPIC_THYROID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_THYROID IL6ST KAT6B LIFR NKX2-5 PAX8 HP_ECTRODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTRODACTYLY AHSG ARHGAP31 ARSB BHLHA9 BSCL2 BTRC CDH3 CDKN1C CPLX1 CTBP1 CTDP1 CTSD DHCR7 DLL4 DLX5 DLX6 DOCK6 EGR2 EOGT EPS15L1 FBXW4 FGFR1 FGFR2 FGFR3 FGFRL1 GDAP1 GLI3 GNPTAB HINT1 HMGA2 HNRNPA1 HSD17B4 IDS IGF2 IRF6 ITGB6 JPH1 LETM1 LSS MAP3K20 MBTPS2 MCM3AP MED12 MMP2 MORC2 MPZ NDRG1 NEFL NELFA NOTCH1 NSD2 NXN PIGG PLAG1 PMP22 PORCN PRX RBPJ ROR2 SBF2 SEM1 SLC52A2 SVBP TBX5 TCTN3 TP63 UBA2 WLS WNT10B WNT7A HP_ECTROPION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION AARS1 ABCA1 ABCA12 ABHD5 ADNP ALOX12B ALOXE3 APC ASPRV1 CARD14 CARS1 CCDC47 CD28 CDC42 CDH1 CERS3 CTLA4 CTNND1 CYP4F22 DDB2 DHODH DLX4 EDN1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FERMT1 FLI1 FOXC2 FOXL2 GATA1 GBA1 GRIA3 GTF2E2 GTF2H5 HNRNPK IPO8 ITGA6 ITGB4 KDM6A KMT2A KMT2D KRT10 LIPN LRP4 MBTPS2 MEGF8 MPLKIP NIPAL4 PLEC PNPLA1 POLH POLR3A RIPK4 RNF113A RNF2 RNU12 SDR9C7 SULT2B1 TARS1 TGM1 TNFRSF1B TWIST2 UROD UROS XPA XPC HP_ECTROPION_OF_LOWER_EYELIDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION_OF_LOWER_EYELIDS ADNP CDH1 CTNND1 DHODH DLX4 MEGF8 RNF2 HP_ECZEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMA AARS1 ABCC9 ADA2 ARVCF AUTS2 BRAF BTD C5 CAMK2B CARD11 CARD14 CARMIL2 CARS1 CASP8 CASR CD28 CD3G CDSN CFTR CIB1 COMT CST6 CSTA CTLA4 CYBA CYBB CYBC1 DDX41 DHCR7 DNAJC21 DOCK8 DPP9 EDA EDAR EDARADD EFL1 ERCC2 ERCC3 FECH FLG FLG2 FLI1 FOCAD FOXN1 FOXP3 GGT1 GINS1 GNA11 GNB2 GP1BB GTF2E2 GTF2H5 H3-3B HDAC4 HIRA HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HPGD HSPA9 IFIH1 IGHG2 IGKC IKBKG IL17RA IL21R IL2RA IL4R IL6R IL6ST IL7 IL7R IPO8 JAK1 JMJD1C KANSL1 KARS1 KDF1 KRT1 KRT74 LBR LGI3 LIG1 LIG4 LRRC32 MBTPS2 MCCC2 MORC2 MPDU1 MPLKIP MS4A2 MSN MTHFD1 MYSM1 NAA10 NBEA NCF1 NCF2 NCF4 NEK9 NFKBIA NOD2 NSMCE3 NSUN2 NUP107 PAH PCCA PCCB PEPD PGM2L1 PGM3 PIGA PIK3CA PIK3CG PLA2G7 POLE PRMT7 RAC1 RBCK1 RBM8A RFX7 RIT1 RNF113A RNU12 RNU4ATAC RRAS2 RREB1 RTTN SBDS SCNN1A SCNN1B SCNN1G SEC24C SHOC2 SIK3 SIN3A SLC30A2 SLC39A7 SLCO2A1 SLF2 SMARCA2 SMARCC2 SMG8 SPINK5 SRCAP SRD5A3 SRP54 STAT1 STAT3 STAT5B SUOX TAF1 TARS1 TBC1D2B TBCK TBX1 TGM5 TKT TMC6 TMC8 TNFRSF1B TOM1 TP63 TPR TRAF3IP2 TRAF6 UFD1 WAS WIPF1 ZAP70 ZNF341 ZNF750 HP_ECZEMATOID_DERMATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMATOID_DERMATITIS BTD CYBA CYBB FLG FOXP3 HPGD NCF1 NCF2 SLC39A7 SLCO2A1 STAT3 ZAP70 HP_EDEMA_OF_THE_DORSUM_OF_FEET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_FEET PLAA RBM8A RNF13 TGM1 ZNHIT3 HP_EDEMA_OF_THE_DORSUM_OF_HANDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_HANDS ACTA1 ANGPT1 EPHB4 HS3ST6 KLHL40 KLHL41 KNG1 LMOD3 NEB PLAA RBM8A RNF13 SERPING1 TGM1 ZNHIT3 HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES AARS1 ACTL6B ALDH7A1 AP2M1 AP3B2 ARV1 ATP1A2 ATP1A3 ATP6V1A CACNA1A CACNA1B CACNA2D1 CDK19 CDKL5 CELF2 CHD2 CHMP2B CLN5 CLN8 CLTC CNKSR2 CNTNAP2 CYFIP2 CYP27A1 DALRD3 DHDDS DNM1 DOLK DPAGT1 EEF1A2 FBXO28 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GNB1 GRIA4 GRIN2A GRIN2D GRN HCN1 HID1 KCNA2 KCNB1 KPTN LMNB1 LRPPRC MAPT MECP2 MTHFS NECAP1 NEXMIF NTRK2 NUS1 OCA2 P4HTM PACS2 PARS2 PIGY PLP1 PLPBP PPP3CA PSEN1 RNF13 SCN1A SCN3A SCN8A SLC13A5 SLC1A2 SLC2A1 SLC38A3 SLC6A1 SQSTM1 STXBP1 SYNGAP1 SYNJ1 SZT2 TMEM106B TRAK1 TREM2 UBA5 UBE3A VCP WWOX YWHAG HP_EEG_WITH_BURST_SUPPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_BURST_SUPPRESSION ABAT AKT3 ALDH7A1 ALG11 ALG14 AMT ARX ASNS ATP1A2 ATP6V0A1 BRAT1 C1QBP CAMSAP1 CASK CDK5 CDKL5 CNPY3 CUL3 CYFIP2 DMXL2 DNM2 DPM2 FGF13 GAD1 GLS GNAO1 GNB1 GRIN1 GRM7 IER3IP1 KCNA1 KCNC2 KCNQ2 MOGS MTOR NEUROD2 NSF PIGP PIGQ PIGS PIK3CA PLPBP PNKP PNPO PRKAG2 SCN1B SCN2A SIK1 SLC25A22 SLC25A46 SLC32A1 STXBP1 TRIM8 UGDH VARS2 ZNF148 HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES FRRS1L GABRG2 GRIN2A IQSEC2 SRPX2 HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY CHMP2B GRN MAPT PSEN1 SQSTM1 TMEM106B TREM2 VCP HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES ACTL6B ADGRG1 ADK AKT3 ALDH7A1 ALG1 AP2M1 ARFGEF1 ARHGEF9 ARX ASPA ATP1A2 ATP1A3 CABP4 CACNA1A CACNA1G CARS2 CASK CDKL5 CHD2 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN5 CLTCL1 CNTNAP2 CPLX1 CRH CUX2 DAG1 DEPDC5 DMXL2 DNM1 DOCK7 DOLK DPYD FGF12 FRRS1L GABBR2 GABRA1 GABRB3 GABRG2 GNAO1 GNB1 GRIN1 GRIN2A GRM7 HID1 IQSEC2 KANSL1 KCNA1 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD7 LGI1 LONP1 LRPPRC MAPK10 MECP2 MED13L MTOR MYD88 NEUROD2 NEXMIF NPRL2 NPRL3 P4HTM PCDH19 PDHA1 PI4KA PIGA PIGG PIGP PIGQ PIGT PIK3CA PLCB1 PLPBP PNKP POLG PPP3CA PRPS1 PRRT2 PSAT1 RELN RNF13 SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC12A5 SLC25A10 SLC25A22 SLC2A1 SLC32A1 SLC35A2 SLC6A1 SPATA5 SPTBN1 SRPX2 ST3GAL5 STXBP1 SUOX SYNGAP1 SYT1 TBC1D24 TBC1D2B TFE3 TRIM8 TUBB2A UBE3A YME1L1 HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES AKT3 CACNA1A CHD2 CUX2 DNM1 GABRB3 GNB1 HID1 MAPK10 MTOR PIK3CA SCN1A SPATA5 HP_EEG_WITH_FOCAL_SHARP_WAVES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_WAVES ATP1A2 CACNA1A GRIN2A LONP1 PDHA1 PRRT2 PSAT1 SCN1A SRPX2 SYT1 TBC1D24 YME1L1 HP_EEG_WITH_FOCAL_SPIKES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKES ADGRG1 AKT3 ARHGEF9 CABP4 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN5 CNTNAP2 CRH DEPDC5 GNB1 GRIN2A KCNQ2 KCNT1 LONP1 MTOR PDHA1 PI4KA PIGG PIK3CA SCN2A SRPX2 SYT1 TFE3 HP_EEG_WITH_FOCAL_SPIKE_WAVES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKE_WAVES AP2M1 CHD2 CPLX1 DAG1 FRRS1L GABRG2 GRIN2A IQSEC2 NEXMIF SATB1 SCN1A SLC2A1 SLC6A1 SRPX2 SYNGAP1 TBC1D24 HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES ADGRG1 FRRS1L GRIN2A PI4KA SPATA5 SRPX2 HP_EEG_WITH_GENERALIZED_EPILEPTIFORM_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_EPILEPTIFORM_DISCHARGES AARS1 AASS ABAT ABCC8 ACTL6B ADGRG1 ADGRV1 AGRN AIMP2 AKT3 ALDH4A1 ALDH7A1 ALG11 ALG13 ALG14 ALG2 ALG3 AMT AP2M1 AP3B2 APC2 ARFGEF1 ARFGEF2 ARV1 ARX ASNS ASPA ATAD1 ATN1 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP7A ATXN10 BRAT1 C1QBP CACNA1A CACNA1B CACNA1E CACNA1H CACNA2D1 CACNB4 CAMSAP1 CASK CCDC88A CDK19 CDK5 CDKL5 CELF2 CHAT CHD2 CILK1 CLCN2 CLN5 CLN8 CLTC CNKSR2 CNPY3 CNTNAP2 COL13A1 COX4I1 CPA6 CPLX1 CSTB CTNNA2 CUL3 CUX2 CYFIP2 D2HGDH DALRD3 DCX DEPDC5 DHDDS DMXL2 DNM1 DNM2 DOCK7 DOLK DPAGT1 DPM2 EEF1A2 EFHC1 EPM2A ERMARD EXOC8 FBXO28 FGF12 FGF13 FRRS1L FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GFM2 GLS GLUD1 GLYCTK GNAO1 GNB1 GNB5 GOLGA2 GOSR2 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GRN GUF1 HCFC1 HCN1 HIBCH HID1 HMGCL IARS2 IER3IP1 JRK KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KIF1A LONP1 MDH1 MED17 MFF MGAT2 MOGS MPDU1 MT-TL1 MTOR MYO9A NACC1 NARS2 NAXD NDUFAF8 NECAP1 NEDD4L NEUROD2 NEXMIF NF1 NHLRC1 NPRL2 NPRL3 NSF NTRK2 NUS1 OGDHL PACS2 PAFAH1B1 PARS2 PCDH12 PCDH19 PDHA1 PGAP2 PGAP3 PHACTR1 PHGDH PI4KA PIDD1 PIGA PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3CA PLAA PLCB1 PLPBP PNKP PNPO PPFIBP1 PPP3CA PRICKLE1 PRKAG2 PRRT2 PSAT1 PTPN23 PTS ROGDI RUSC2 SAMD12 SATB1 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SETBP1 SETD1B SIK1 SLC12A5 SLC13A5 SLC18A3 SLC1A2 SLC1A4 SLC25A1 SLC25A22 SLC25A46 SLC2A1 SLC32A1 SLC35A2 SLC38A3 SLC39A8 SLC5A7 SLC6A1 SMC1A SNAP25 SPATA5 SPTAN1 SPTBN1 SRPX2 ST3GAL3 STARD7 STX1B STXBP1 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TBC1D24 TBC1D2B TBCK TBL1XR1 TGFB1 TIMM50 TRAK1 TRAPPC12 TRIM8 TUBB2A UBA5 UFC1 UGDH UPB1 VAMP1 VARS2 WDR45 WWOX YEATS2 YWHAG ZNF148 ZNF526 ZNHIT3 HP_EEG_WITH_GENERALIZED_POLYSPIKES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_POLYSPIKES CHD2 CNTNAP2 EFHC1 FRRS1L GRIN2A GRN HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES ALDH4A1 ALDH7A1 ATP1A2 CACNA1A LONP1 PDHA1 PIGT PLPBP PRRT2 SCN1A HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY ALDH7A1 AP2M1 CDKL5 CHD2 CHMP2B CLN5 CNTNAP2 CYP27A1 DOLK DPAGT1 GRIA4 GRN HID1 KPTN LMNB1 MAPT MECP2 MTHFS NEXMIF PLPBP PSEN1 RNF13 SCN1A SLC2A1 SLC6A1 SQSTM1 SYNGAP1 TMEM106B TREM2 VCP HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES AP2M1 CHD2 GABRG2 GRIN2A NEXMIF SAMD12 SCN1A SLC2A1 SLC6A1 SRPX2 STARD7 SYNGAP1 TBC1D24 HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY AARS1 ACTL6B AP3B2 ARV1 ATP1A2 ATP1A3 ATP6V1A CACNA1A CACNA1B CACNA2D1 CDK19 CELF2 CLTC CNKSR2 CYFIP2 DALRD3 DHDDS DNM1 EEF1A2 FBXO28 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GRIN2A GRIN2D HCN1 KCNA2 KCNB1 NECAP1 NTRK2 NUS1 PACS2 PARS2 PIGY PPP3CA SCN3A SCN8A SLC13A5 SLC1A2 SLC38A3 SYNGAP1 SYNJ1 SZT2 TRAK1 UBA5 WWOX YWHAG HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES ADGRG1 PI4KA SRPX2 TBC1D24 TFE3 TRIM8 HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE CERS1 FBXO28 GABRA1 MARCHF6 SAMD12 SHQ1 STARD7 HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES ADGRG1 AGRN AKT3 AP2M1 APC2 CACNB4 CHAT CHD2 CILK1 CLCN2 COL13A1 CSTB EFHC1 GABRA1 GABRD GABRG2 JRK KCNC2 KCNQ3 MTOR MYO9A NEXMIF PGAP2 PGAP3 PI4KA PIGL PIGO PIGV PIGW PIGY PIK3CA PRICKLE1 PSAT1 SCARB2 SCN1A SETD1B SLC18A3 SLC25A1 SLC2A1 SLC5A7 SLC6A1 SNAP25 SRPX2 SYNGAP1 SYT2 VAMP1 YEATS2 YWHAG HP_EEG_WITH_SPIKE_WAVE_COMPLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES AASS ADGRG1 ADGRV1 AGRN AKT3 AP2M1 APC2 ARX CACNA1H CACNB4 CASK CDKL5 CHAT CHD2 CILK1 CLCN2 CLN5 COL13A1 CPA6 CSTB DMXL2 EFHC1 GABRA1 GABRB3 GABRD GABRG2 GNAO1 GOSR2 GRIN1 GRIN2A GRM7 HCN1 JRK KCNA1 KCNA2 KCNC2 KCNMA1 KCNQ3 MTOR MYO9A NEUROD2 NEXMIF PAFAH1B1 PGAP2 PGAP3 PI4KA PIGL PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3CA PNKP PRICKLE1 PSAT1 SAMD12 SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SETD1B SIK1 SLC18A3 SLC25A1 SLC25A22 SLC2A1 SLC32A1 SLC5A7 SLC6A1 SNAP25 SRPX2 STARD7 STX1B SYNGAP1 SYT1 SYT2 TBC1D24 TRIM8 VAMP1 YEATS2 YWHAG HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ CACNA1H GABRA1 GABRB3 GABRG2 JRK KCNA2 SETD1B SLC2A1 HP_ELBOW_ANKYLOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_ANKYLOSIS FGFR1 FGFR2 GDF5 MUSK NOG POR PTDSS1 WNT7A HP_ELBOW_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_CONTRACTURE ACTA1 ADGRG6 ALDH18A1 ANO5 ATR B3GAT3 CAPN3 CHST3 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COX11 CPT2 CRLF1 DDR2 DMD ECEL1 EMD ERCC1 ERCC6 ERGIC1 ERLIN2 ESCO2 EXTL3 FBN1 FBN2 FBXO28 FDFT1 FHL1 FKBP10 FKRP FLNA GJB2 GLDN GNB2 GNS HACD1 HS2ST1 IGF2 IL6ST ITGA7 JAG2 KIF22 KY LAMA2 LARGE1 LGI4 LIFR LMNA LMX1B MAP3K20 MAP3K7 MEGF10 MUSK MYH3 MYL1 MYL11 MYL2 NALCN NEDD4L NIPBL P4HTM PIGA PIGY PIK3C2A PITX1 PLOD1 PLOD2 PLOD3 POR PSMB8 PSTPIP1 PTDSS1 PYCR1 RARS2 RMRP RNU4ATAC RSPO2 RYR3 SCARF2 SCN4A SCYL2 SELENON SIK3 SLC25A46 SLC26A2 SLC29A3 SLC39A8 SLC6A9 SNRPB SPRTN SRD5A3 SVIL SYNE1 SYNE2 SYT2 TBX15 TBX3 TFAP2A TMEM222 TMEM43 TNNT1 TOR1A TPM2 TPM3 TRPV4 UBA1 UNC80 WNT7A HP_ELECTRONEGATIVE_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELECTRONEGATIVE_ELECTRORETINOGRAM ABCA4 CABP4 CACNA1F CACNA2D4 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 NYX PDE6B RHO RLBP1 RS1 SAG SLC24A1 TRPM1 HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN ABCC6 CCDC115 CTNS CYP27B1 CYP2R1 DMP1 ENPP1 ESR1 NPR2 NPR3 SLC34A1 SLC34A3 VCP HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION MUC5B NKX2-1 SFTPA1 SFTPA2 SFTPC TERT HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION ACOX2 ADK AHCY ALDOA APOB APOE ATP6AP1 ATP7B BAAT BCAT2 CNOT1 COG7 CPT1A CPT2 CYP7B1 DEF6 DNAJC19 DOCK2 EARS2 FADD GAA GALT HADHB HMGCS2 HMOX1 IARS1 KIF12 LIPA LYRM4 MARS1 MPV17 MRPL3 MRPL44 MRPS2 MYO5B NFS1 NR1H4 NSMCE2 OCRL OTC PCK1 PEX14 PEX2 PGM1 PIGL PKHD1 POLD1 POLG2 PRKCD SCO1 SEMA7A SLC22A5 SLC25A13 SLC2A2 SLC37A4 SLC51B SMPD1 STAT2 SUCLG1 TKFC TMEM165 TRMT10C TRMU TTC26 TWNK UBR1 UQCRB USP53 VPS13A VPS33B VPS50 WRN XK HP_ELEVATED_CIRCULATING_ALDOLASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ALDOLASE_CONCENTRATION HSPG2 LPIN1 MT-CO1 MT-CO3 OBSCN PFKM TGFB1 HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION ACOX2 AHCY AMACR APOB APOE ASL ATP6AP1 ATP7B B4GALT1 BAAT CAV3 COG7 COG8 CPT1A CPT2 CYP7B1 DEF6 DNAJC19 DOCK2 EARS2 FHL1 GALT HADHA HADHB HMGCS2 HMOX1 IARS1 KIF12 LARGE1 LIPA LYRM4 MARS1 MOGS MPV17 MRPL3 MRPL44 MRPS2 MYO5B NFS1 NR1H4 NSMCE2 OCRL OTC PEPD PEX14 PEX16 PEX2 PGM1 PIGL POLG2 PRKCD SCO1 SEMA7A SLC22A5 SLC25A13 SLC2A2 SLC37A4 SLC51B SMPD1 SUCLG1 TMEM165 TRMT10C TTC26 TWNK UBR1 UQCRB USP53 VPS13A VPS33B VPS50 WRN XK HP_ELEVATED_CIRCULATING_CALCITONIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_CALCITONIN_CONCENTRATION CDKN1A CDKN1B CDKN2B CDKN2C DLST FH GNAS KIF1B MAX MDH2 MEN1 NF1 PRKAR1A RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL HP_ELEVATED_CIRCULATING_CATECHOLAMINE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_CATECHOLAMINE_LEVEL CCND1 SDHC SDHD SLC25A11 VHL HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL AR BMPR1B BNC1 C14orf39 CBX2 CLPP CNBP CYB5A CYP11A1 CYP17A1 DHX37 DIAPH2 DMRT3 ERCC6 ESR2 FANCM FGD1 FIGLA FKBP6 FOXL2 GATA4 GCNA GDF9 HFM1 KISS1R LHB MAP3K1 MCM8 MCM9 MRPS22 MSH4 MSH5 NR0B1 NR5A1 NSMCE2 POR PPP2R3C PSMC3IP SHOC1 SOHLH1 SOX9 SPIDR SRY STAG3 TP63 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7 HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION DNAJC19 ETFA ETFB ETFDH GCDH SUGCT HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C GNAS GPR101 HPGD IGF1 KCNJ11 MEN1 PDE11A PMM2 PRKAR1A SLCO2A1 HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION ABCD1 CPT2 PEX1 PEX19 PEX5 HP_ELEVATED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL AR BMPR1B C14orf39 CLPP CYB5A CYP11A1 CYP17A1 DHX37 DIAPH2 DMRT3 ESR2 FANCM FGD1 FIGLA FOXL2 FSHB GATA4 GCNA GDF9 HFM1 KISS1R MAP3K1 MCM8 MRPS22 MSH4 NR0B1 NR5A1 NSMCE2 POR PPP2R3C PSMC3IP SOHLH1 SOX9 SPIDR SRY STAG3 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZSWIM7 HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL CASR CDC73 CDKN1B CLDN16 CYP27B1 CYP2R1 CYP3A4 GCM2 GNAS GNAS-AS1 KL MEN1 NF1 PDE4D PHEX PRKAR1A SLC34A1 SOST STX16 VDR HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION ALMS1 CDH23 DCAF17 DUOX2 DUOXA2 GLIS3 GNAS IYD MRPS7 NKX2-1 NKX2-5 PAX8 PDGFRB PLVAP PMM2 PRKAR1A PSMB8 SECISBP2 SLC16A2 SLC25A36 SLC35A2 SLC5A5 SMARCAL1 SMC5 TG THRB TPO TRHR TSHR HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE ACAD9 ALDOA AMPD1 AMPD3 CACNA1S CAV3 DNA2 DPM3 LDHA RYR1 SLC25A20 HP_ELEVATED_HEMOGLOBIN_A1C https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEMOGLOBIN_A1C ABCC8 APPL1 BLK BLM BSCL2 CEL CELA2A DMXL2 DNAJC3 GCK HNF1A HNF4A INS KCNJ11 KLF11 MTX2 NARS2 NEUROD1 NSMCE2 PAX4 PDX1 SLC5A2 TRMT5 WRN YIPF5 HP_ELEVATED_HEPATIC_TRANSAMINASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEPATIC_TRANSAMINASE ABCB11 ABCB4 ABCD1 ABCD3 ABHD5 ACAD9 ACADM ACADVL ACOX1 ACOX2 ACSF3 ACSL5 ADA2 ADAR ADK AGL AGPAT2 AHCY AIFM1 AKR1D1 ALAS2 ALDOA ALDOB ALG11 ALG12 ALG6 ALG8 ALMS1 AMACR AP1B1 AP1S3 APOB APOE ASAH1 ASL ATM ATP6AP1 ATP6AP2 ATP7B ATP8B1 ATRX B4GALT1 BAAT BCAP31 BCAT2 BCS1L BICRA BMP2 BRCA1 BRCA2 BSCL2 C1QBP CALR CAV3 CAVIN1 CBS CC2D2A CCDC115 CD19 CD46 CD81 CDKN2A CEACAM3 CEACAM6 CEP164 CFAP418 CFH CFI CFTR CLCA4 CLPB CNOT1 COG2 COG4 COG5 COG6 COG7 COG8 CORIN COX16 COX5A CPT1A CPT2 CR2 CSPP1 CYC1 CYP7B1 DAXX DCDC2 DCTN4 DDOST DEF6 DGUOK DHDDS DLD DMD DNAJC19 DNAJC21 DOCK2 DOLK DPAGT1 DPM1 DPM2 DPM3 EARS2 EDNRA EFL1 EIF2AK3 ERCC4 ERCC6 ERCC8 F5 FADD FAH FAN1 FARSA FARSB FBP1 FBXL4 FHL1 FLT1 FOCAD FOXP3 G6PC1 GAA GALT GCLC GDF2 GGCX GIMAP5 GLRX5 GNE GNMT GPD1 GPR35 GSTM3 GYS2 HACD1 HADH HADHA HADHB HAMP HELLPAR HFE HJV HLA-B HLA-DQA1 HLA-DQB1 HMGCL HMGCS2 HMOX1 HNF1B HNF4A HPD HSD17B4 HSD3B7 IARS1 ICOS IER3IP1 IFIH1 IFT172 IKZF1 IL18BP IL36RN INPP5E IRF2BP2 JAG1 JAK2 KCNN4 KIAA0586 KIF12 KIF23 KRAS LARGE1 LARS1 LBR LDHA LHX1 LIG3 LIPA LIPT1 LPIN1 LSM11 LYRM4 LYST MARS1 MED12 MICOS13 MICU1 MIF MLIP MOGS MPV17 MRPL3 MRPL44 MRPS16 MRPS2 MRPS28 MS4A1 MST1 MT-CO1 MT-CO3 MTM1 MTTP MTX2 MVK MYH9 MYO5B NBAS NFKB1 NFKB2 NFS1 NGLY1 NOS3 NR1H4 NSMCE2 OBSCN OCLN OCRL OFD1 OTC OTUD5 PALB2 PALLD PCK1 PEPD PEX13 PEX14 PEX16 PEX19 PEX2 PGM1 PHKA2 PHKB PHKG2 PIGL PKHD1 PMM2 PNPLA2 POLD1 POLG POLG2 PPOX PRF1 PRIM1 PRKCD PSMB4 PSMB8 PSMB9 PYGL RABL3 RACGAP1 RAG1 RAG2 RBCK1 RINT1 RNASEH2A RNASEH2B RNASEH2C RNF220 RNU7-1 RPGRIP1L RRM2B SAMHD1 SAR1B SBDS SC5D SCO1 SDHD SEMA4D SEMA7A SERPINA1 SH2B1 SLC11A1 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC25A4 SLC26A9 SLC2A2 SLC30A10 SLC35A2 SLC37A4 SLC51A SLC51B SLC6A14 SLC7A7 SLC9A3 SMAD4 SMPD1 SP110 SPTBN1 SRD5A3 SRP54 STAT2 STEAP3 STOX1 STX11 STX1A STXBP2 SUCLG1 TANGO2 TCF4 TFAM TFR2 TGFB1 TKFC TMEM165 TMEM199 TMEM67 TNFRSF13B TNFRSF13C TNFSF12 TP53 TRAPPC11 TREX1 TRMT10C TRMU TTC26 TULP3 TWNK TYMP UBR1 UGT1A1 UNC13D UQCRB UQCRC2 USP18 USP53 VIPAS39 VPS13A VPS33B VPS50 WDR35 WRN XK YARS2 ZNFX1 HP_ELEVATED_LACTATE_PYRUVATE_RATIO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_LACTATE_PYRUVATE_RATIO BCS1L COQ8A CYC1 GFM1 HS6ST2 IBA57 MDH2 MRPL3 NDUFA10 NDUFA9 NDUFB10 NDUFS4 PDSS1 PRORP SCO2 SDHA SUCLG1 TMEM126B TRMT10C TSFM UQCC3 HP_ELEVATED_MEAN_ARTERIAL_PRESSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE ADD1 AGT AGTR1 ATP1B1 CYP3A5 ECE1 GNB3 NOS3 PTGIS RGS5 HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL ADA2 GATA1 HEATR3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2 HP_ELEVATED_SERUM_11_DEOXYCORTISOL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_11_DEOXYCORTISOL CDKN2A CTNNB1 CYP11B1 CYP11B2 POR PRKAR1A TERT TP53 ZNRF3 HP_ELEVATED_SERUM_ACID_PHOSPHATASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_ACID_PHOSPHATASE CA2 CLCN7 LRP5 OCRL PSAP TNFRSF11B HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE ADD1 AGT AGTR1 ATP1B1 AVPR2 CORIN CYP3A5 ECE1 FLT1 GNB3 NOS3 PTGIS RGS5 STOX1 HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE ABCC6 CCDC115 CTNS CYP27B1 CYP2R1 DMP1 ENPP1 ESR1 GPR35 MST1 NPR2 NPR3 SEMA4D SLC34A1 SLC34A3 TCF4 VCP HP_ELEVATED_TOTAL_SERUM_TRYPTASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TOTAL_SERUM_TRYPTASE ASXL1 CBL KIT RUNX1 SRSF2 TET2 HP_ELEVATED_TRANSFERRIN_SATURATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TRANSFERRIN_SATURATION BMP6 FTH1 HAMP HFE HJV PKLR SLC25A38 SLC40A1 STEAP3 TFR2 HP_ELEVATED_URINARY_CARBOXYLIC_ACID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_CARBOXYLIC_ACID ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACSF3 ALAD ALDH5A1 ALDH6A1 CA5A CD320 COX16 CPOX CPT1A CPT2 D2HGDH DHTKD1 ETFA ETFB ETFDH ETHE1 FH FOCAD FTCD GATA1 GCDH HADH HCFC1 HGD HLCS HMBS HMGCL HPD HSPD1 IDH1 IDH2 KIF1B L2HGDH LETM1 LMBRD1 MCCC1 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MTR MTRR MVK NDUFB10 NDUFS4 NFU1 OXCT1 PAH PEX14 POLG PPOX PRDX1 RET SCO1 SFXN4 SLC13A3 SLC18A2 SLC22A5 SLC25A1 SLC25A20 SLC52A1 SUCLA2 SUCLG1 SUGCT TAT TCN2 TFAM TRMU UROC1 UROS HP_ELEVATED_URINARY_CATECHOLAMINE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_CATECHOLAMINE_LEVEL ALK CCND1 DBH DLST DNMT3A EPAS1 FH HACE1 KIF1B LIN28B LMO1 MAX MDH2 MYCN NF1 PHOX2B RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SLC6A2 TMEM127 TOP2A VHL HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID ALAD CPOX FAH HMBS PPOX HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL ACADM ALDH5A1 ALDH6A1 CA5A HGD NDUFB10 OXCT1 HP_ELEVATED_URINARY_NOREPINEPHRINE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_NOREPINEPHRINE_LEVEL DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SLC6A2 TMEM127 VHL HP_ELFIN_FACIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELFIN_FACIES BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EIF4H ELN FARSA FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HEPHL1 INSR LIMK1 METTL27 MLXIPL NCF1 RFC2 STX1A TBL2 TMEM270 VPS37D HP_ELLIPTOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELLIPTOCYTOSIS ACSL4 AMMECR1 CA2 EPB41 GATA1 GYPC KCNE5 NHLRC2 SLC4A1 SPTA1 SPTB TRNT1 HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE AHI1 ARL3 CLCN3 CSPP1 INPP5E KIAA0586 LAMA1 NPHP1 TMEM216 TMEM67 HP_EMBRYONAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMBRYONAL_NEOPLASM ALX4 APC APC2 ARID1A ARID1B ARID2 ASXL1 BCL10 BLM BMPER BRCA2 BUB1 BUB1B BUB3 C1S CDC73 CDKN1C CEP57 CHEK2 DHX37 DICER1 DIS3L2 DLK1 DMRT3 DPF2 DZIP1L EXT2 FGFR3 FIBP GATA4 GPC3 GPC4 H19 HDAC4 HRAS IGF2 KCNQ1 KCNQ1OT1 KIT MAD1L1 MAP3K1 MEG3 MNX1 MSH3 NR0B1 NR5A1 NSD1 PALB2 PAX6 PDE11A PHF21A PIK3CA PKHD1 POU6F2 PRKAR1A PTCH1 RB1 REST RTL1 SETBP1 SETD2 SKIC2 SKIC3 SLC22A18 SLC37A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SOX9 SPRED1 SRY STK11 TP53 TRIM28 TRIM37 TRIP13 VAMP7 WT1 WWOX ZFPM2 HP_EMG_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_ABNORMALITY ABCC9 ABHD5 ACAD9 ACTA1 ACTC1 ACTN2 ADCY6 AGRN AK9 ALDOA ALG14 ALG2 ALS2 ANKRD1 ANO10 ANO5 ANXA11 ARSA ASAH1 ATL1 ATL3 ATP13A2 ATP2A1 ATP7A ATXN3 B3GALNT2 BAG3 BAG5 BIN1 CACNA1D CACNA1S CAP2 CASQ1 CASR CAV3 CDON CEP126 CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ COQ8A CPLANE1 CPT1C CRPPA CRYAB CSRP3 CYP27A1 DCAF8 DES DHX16 DISP1 DLL1 DMD DMXL2 DNAJB4 DNM2 DNMT3B DOK7 DOLK DPAGT1 DSG2 DSP DUX4 DUX4L1 DYNC1H1 DYSF ELP1 EMD ERGIC1 FBXO38 FGF8 FGFR1 FHL1 FHL2 FKRP FKTN FLNC FOXH1 FRG1 FXR1 GABRA3 GAS1 GATAD1 GBE1 GBF1 GDAP1 GFPT1 GIPC1 GJB1 GLI2 GMPPB GNA11 GNE GYG1 HAND2 HINT1 HNRNPA1 HNRNPA2B1 HSPB1 HSPB3 HSPB8 HSPG2 IBA57 IGHMBP2 JAG2 JPH2 KBTBD13 KCNA1 KCNE3 KCNJ18 KLHL41 KLHL9 KPNA3 LAMA2 LAMA4 LAMB1 LAMB2 LAMP2 LARGE1 LDB3 LGI4 LMNA LMOD2 LRP12 LRP4 MAFB MATR3 MEGF10 MFN2 MPV17 MSTO1 MT-ATP8 MT-ND5 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MTMR14 MUSK MYBPC1 MYBPC3 MYF6 MYH14 MYH6 MYH7 MYL1 MYO9A MYOT MYPN NALCN NEB NEFH NEFL NEXN NODAL NOP56 NOTCH2NLC NR4A2 OAT OPA1 OPTN ORAI1 PDK3 PLA2G6 PLEC PLEKHG5 PLN PLOD1 PMP22 PNPT1 POLG POLG2 POMGNT1 POMT1 POMT2 PPCS PRDM16 PRPS1 PSAP PSEN1 PSEN2 PTCH1 PUS1 RAF1 RAPSN RBM20 RILPL1 RPL3L RRM2B RTN2 RYR1 SAR1B SCN4A SCN5A SCO2 SCYL2 SDHA SEPTIN9 SETX SGCA SGCD SGCG SH3TC2 SHH SIX3 SLC12A6 SLC16A1 SLC18A3 SLC25A1 SLC25A4 SLC33A1 SLC5A7 SMAD4 SMCHD1 SMN1 SMN2 SNAP25 SPEG SPG11 SPG7 SPTLC1 SPTLC2 SQSTM1 STIM1 SUFU SVIL SYNE1 SYNE2 SYT2 TAF1A TAFAZZIN TANGO2 TBCE TBCK TCAP TDGF1 TFG TGIF1 TIA1 TK2 TMEM43 TMPO TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TPM1 TPM2 TPM3 TPP1 TRIM32 TRIP4 TTN TWNK TXNRD2 UBA1 UBAP1 UNC45B UNC80 VAMP1 VAPB VCL VCP VEZF1 VPS13A VRK1 VWA1 WASHC5 YARS2 ZFR ZIC2 HP_EMG_AXONAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_AXONAL_ABNORMALITY ANO5 ANXA11 ATP13A2 CYP27A1 DNM2 GNE LMNA MTMR14 NR4A2 OPTN PDK3 SETX SGCG SPG11 TFG HP_EMG_CHRONIC_DENERVATION_SIGNS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_CHRONIC_DENERVATION_SIGNS ALS2 ARSA ASAH1 COL25A1 DCAF8 ERGIC1 FBXO38 HINT1 HNRNPA1 HNRNPA2B1 HSPB1 HSPB8 MFN2 MPV17 OPA1 PLA2G6 PRPS1 PSAP SCO2 SCYL2 SH3TC2 SLC12A6 SMN1 SMN2 SPG7 TBCE TBCK VCP HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION AGRN AK9 ALG14 ALG2 BIN1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 DPAGT1 GFPT1 GMPPB LAMB2 LRP4 MUSK MYL1 NOTCH2NLC RAPSN RYR1 SCN4A SPEG SYT2 TTN VAMP1 HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION AGRN AK9 ALG14 ALG2 BIN1 CACNA1D CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 DPAGT1 GFPT1 GMPPB LAMB2 LRP4 MUSK MYL1 MYO9A NOTCH2NLC OPA1 RAPSN RYR1 SCN4A SLC18A3 SLC25A1 SLC5A7 SNAP25 SPEG SYT2 TTN VAMP1 HP_EMG_MYOPATHIC_ABNORMALITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOPATHIC_ABNORMALITIES ABHD5 ACAD9 ACTA1 AGRN AK9 ALDOA ANO5 BAG3 BIN1 CASQ1 CAV3 CDON CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DES DHX16 DISP1 DLL1 DNAJB4 DNM2 DOK7 DYSF EMD FGF8 FGFR1 FHL1 FKRP FKTN FLNC FOXH1 FXR1 GAS1 GIPC1 GLI2 GNE GYG1 HNRNPA1 HNRNPA2B1 JAG2 KBTBD13 KLHL41 KLHL9 LAMP2 LARGE1 LDB3 LMNA LRP12 LRP4 MEGF10 MSTO1 MTMR14 MUSK MYBPC1 MYF6 MYH14 MYH7 MYO9A MYOT MYPN NALCN NEB NEFL NODAL ORAI1 PLEC PLOD1 POLG POLG2 POMT1 PTCH1 RAPSN RILPL1 RRM2B RYR1 SAR1B SCN4A SGCA SGCG SHH SIX3 SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 SQSTM1 STIM1 SUFU SVIL SYNE1 SYNE2 SYT2 TANGO2 TDGF1 TGIF1 TIA1 TK2 TMEM43 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TRIP4 TTN TWNK UNC45B UNC80 VAMP1 VCP VWA1 ZIC2 HP_EMG_MYOTONIC_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOTONIC_DISCHARGES ATP2A1 DNM2 GNE HSPG2 LRP12 MTMR14 SCN4A SGCG HP_EMG_NEUROPATHIC_CHANGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_NEUROPATHIC_CHANGES ACTA1 ALS2 ANO5 ARSA ASAH1 ATP7A CHCHD10 COL25A1 DCAF8 DYNC1H1 ERGIC1 FBXO38 GBF1 GDAP1 GJB1 HINT1 HNRNPA1 HNRNPA2B1 HSPB1 HSPB3 HSPB8 IBA57 IGHMBP2 LDB3 MFN2 MPV17 MYH7 NEB NEFH NOP56 OPA1 PLA2G6 PLEKHG5 PMP22 PNPT1 PRPS1 PSAP SCO2 SCYL2 SH3TC2 SLC12A6 SMN1 SMN2 SPG11 SPG7 SYNE1 TBCE TBCK TPP1 UBA1 VAPB VCP VPS13A VRK1 HP_EMG_POSITIVE_SHARP_WAVES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_POSITIVE_SHARP_WAVES ANXA11 DNM2 GNE MTMR14 NR4A2 OPTN SETX SGCG TFG HP_EMG_SLOW_MOTOR_CONDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_SLOW_MOTOR_CONDUCTION ATL1 ATL3 DMXL2 SPTLC1 SPTLC2 HP_EMOTIONAL_LABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMOTIONAL_LABILITY AIP AKT1 ANG ANXA11 ARMC5 ARSA ATP1A2 ATP1A3 ATRX ATXN2 B4GALNT1 BAP1 BCS1L BPTF BRAF BSND C19orf12 CACNA1A CASR CCNF CDH23 CFAP410 CHCHD10 CHMP2B CLCNKA CLCNKB CLTRN CREBBP CTSF CUL4B DAO DCTN1 DDC DEAF1 DGCR2 DGCR6 DGCR8 EIF2B1 ELP1 EP300 EPHA4 EPM2A ERBB4 ESS2 FIG4 FMO3 FTL FUS GABRG2 GALC GLE1 GLT8D1 GNA11 GNAS GRIK2 GRIN2A HDAC8 HLA-DQB1 HLA-DRB1 HNRNPA1 HTRA1 LAS1L LEPR MAPK8IP3 MATR3 MECP2 MED12 MIR17HG MTPAP NAGS NEFH NEK1 NF2 NHLRC1 NOTCH3 NR3C1 NTRK1 OPTN PANK2 PDCD1 PDCD6IP PDE11A PDGFB PFN1 PGK1 PIK3CA PLA2G6 POLG PON1 PON2 PON3 PPARGC1A PRKACA PRKAR1A PRNP PRPH PSAP PSMD12 RFX7 RNF125 RNF168 SARDH SATB2 SLC1A3 SLC39A4 SLC6A17 SLC6A19 SMARCB1 SMARCE1 SMO SNORD118 SOD1 SPART SPG11 SPTBN1 SQSTM1 SRPX2 SUFU TAF15 TARDBP TBK1 TBX1 TDO2 TERT TNIK TP53 TRAF7 TREM2 TUBB3 TWNK UBQLN2 UNC13A USP48 USP8 VAPB VCP VPS13A ZFYVE26 HP_EMPHYSEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMPHYSEMA ABCA3 ALDH18A1 APC2 ATP6V0A2 ATP6V1A ATP6V1E1 BTNL2 CARD10 CD19 CD81 CDT1 CFTR COL3A1 CR2 DNASE1L3 DYNC2LI1 EFEMP2 ELN EVC EVC2 FARSB FBLN5 FBN1 FLCN GLA GLI1 GMNN HLA-DRB1 ICOS IPO8 IRF2BP2 LMNA LTBP1 LTBP4 MGP MS4A1 NAF1 NDUFAF6 NFKB1 NFKB2 NSD1 ORC1 PI4KA PRKACA PRKACB PRKCD RHOH SCNN1A SCNN1B SCNN1G SERPINA1 SETD2 SON SPINK5 TAP1 TAP2 TAPBP TGFB2 TNFRSF13B TNFRSF13C TNFSF12 TSC1 TSC2 HP_ENAMEL_HYPOMINERALIZATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOMINERALIZATION AMTN DIAPH1 DLX3 ENAM GPR68 KLK4 ODAPH PHEX RELT WDR72 HP_ENAMEL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOPLASIA AARS1 ACP4 AIRE ALDH3A2 AMBN AMELX ATR AXIN2 CARS1 CEP152 CHD3 CLDN1 COG6 COL17A1 COL7A1 CREBBP CTBP1 CTSK CYP27B1 CYP2R1 DDX59 DLX3 DNAJC21 EDA EDARADD EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 FAM20C FBXO28 FGF10 FGFR1 FGFR2 FGFR3 FLNB GALNT3 GJA1 GNAS GNB2 GRHL2 GTF2E2 GTF2H5 HLA-DQA1 HLA-DQB1 IFT122 IRF6 IRX5 ITGA6 ITGB4 ITGB6 KCNJ2 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMX1B LONP1 LRP4 LRP6 MMP1 MPLKIP MSX1 NECTIN4 NF1 NUP133 OCRL ODAPH OFD1 PAK2 PAX9 PCNT PEX1 PGAP1 PIK3C2A PLEC PORCN PTDSS1 RHOA RNF113A ROGDI RUNX2 SATB1 SCUBE3 SLC10A7 SLC35A2 SMARCA2 SMOC2 SP6 STX16 SUMO1 TARS1 TGFA TP63 TRIM37 TTC7A VDR WNT10A WNT10B HP_ENCEPHALOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOMALACIA ABCC6 ALX4 ANGPTL6 COL3A1 DNMT3A ENG ENPP1 MICU1 MSX2 TGFBR3 THSD1 ZNFX1 HP_ENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOPATHY AARS1 ACAD9 ACADS ACOX1 ACSF3 ACTL6B ACY1 ADAM22 AFF3 ALDH4A1 ALG9 ALMS1 AMACR AMT AP2M1 AP3B2 ARHGEF9 ARV1 ARX ASNS ATAD1 ATAD3A ATG7 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATPAF1 ATPAF2 BCS1L BOLA3 BSCL2 CA5A CACNA1A CACNA1B CACNA1E CACNA2D1 CACNA2D2 CAD CARS2 CCDC88A CDK19 CDKL5 CELF2 CHD2 CHKA CLCN4 CLCNKB CLP1 CLPB CLTC CNKSR2 CNPY3 COG8 COQ2 COQ4 COQ5 COQ9 COX15 COX16 CPLX1 CPT1A CPT2 CRLS1 CUX2 CYC1 CYFIP2 D2HGDH DALRD3 DCX DENND5A DGUOK DHDDS DLD DNM1 DNM1L DOCK7 DPAGT1 DPM1 DPM2 EEF1A2 EIF2AK3 ETHE1 FADD FBLN1 FBXL4 FBXO28 FCSK FGF12 FGF13 FOCAD FOXRED1 FRRS1L FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRG2 GALC GALT GBA1 GCDH GLDC GLS GLUL GLYCTK GNAO1 GPR35 GPT2 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GUF1 HADH HCN1 HECW2 HIBCH HMGCL HNRNPR HNRNPU HSD17B10 HTRA1 IBA57 ITPA KCNA2 KCNB1 KCNC2 KCNQ2 KCNQ5 KCNT1 KCNT2 KMT2E KYNU LIAS LIPT2 LRPPRC LYRM7 MAPK10 MAST3 MDH1 MDH2 MECP2 MEF2C MMACHC MPC1 MST1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MYRF NADK2 NAGS NAPB NAXD NAXE NBAS NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEUROD2 NEXMIF NOTCH3 NRXN1 NSF NTRK2 NUBPL NUS1 PACS2 PAFAH1B1 PARS2 PCCA PCCB PCK1 PHACTR1 PIGA PIGP PLCB1 PMPCB PNPO PNPT1 POLG PPP3CA PRNP PSAP PTPN23 RANBP2 RINT1 RNASEH2B RNASEH2C RNF13 ROGDI RYR1 SCN1A SCN1B SCN2A SCN3A SCN8A SEMA4D SERAC1 SERPINI1 SH2D1A SIK1 SLC12A3 SLC13A5 SLC19A3 SLC1A2 SLC22A5 SLC25A1 SLC25A12 SLC25A13 SLC25A15 SLC25A20 SLC25A22 SLC2A1 SLC35A1 SLC35A2 SLC38A3 SLC52A3 SLC6A1 SLC6A9 SMARCAL1 SMC5 SPTAN1 SQOR ST3GAL3 STAG1 STAT2 STXBP1 SUCLA2 SUCLG1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBCD TBCE TBCK TCF4 TGFB1 TH TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TPK1 TRAF3 TRAK1 TRAPPC12 TREX1 TRIT1 TSEN54 TSFM TSPOAP1 TUFM TULP3 TWNK UBA5 UGDH UGT1A1 UNC80 WDR45 WWOX XIAP YWHAG ZNF668 ZNFX1 ZNHIT3 HP_ENCHONDROMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCHONDROMA ACP5 ADAR COL2A1 IDH1 IDH2 IFIH1 LSM11 MAD1L1 PDE11A POLR1B POLR1C POLR1D PRKAR1A PTH1R PTPN11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TCOF1 TREX1 HP_ENDOCARDIAL_FIBROELASTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROELASTOSIS ACTN2 ALPK3 CSRP3 GJA5 IDUA MCM10 SLC22A5 TAFAZZIN HP_ENDOCARDIAL_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROSIS ACTN2 LDB3 MYL3 PDGFRA SP110 VCL HP_ENDOCARDITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDITIS C4A CCR1 ERAP1 FAS GBA1 HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV PRKAR1A STAT4 TLR4 UBAC2 HP_ENLARGED_CEREBELLUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CEREBELLUM BICRA FGFR3 HRAS KDM1A PDCD6IP PTEN ZEB2 HP_ENLARGED_CISTERNA_MAGNA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CISTERNA_MAGNA ACADVL AFF3 ALDH18A1 ALDH7A1 APC2 BANF1 BRF1 CDH2 CLP1 CNOT3 COG1 CPLANE1 CSF1R CSPP1 CTU2 DPH5 EDEM3 EXOSC8 FAR1 FBXO28 FLNB FOXC1 IL6ST KATNB1 KIAA0586 MAN2B1 MAPKAPK5 NDUFC2 NEK8 NSD1 OFD1 OPHN1 PACS2 PIGU PITX1 PLCH1 PLPBP PMM2 PMPCA POGZ POLR2A POMK POMT1 PRX RAB18 RAC1 RNU12 SETD2 SH2B1 SH3PXD2B SLC31A1 SLC35A2 SLC5A6 SUFU TIMMDC1 VPS51 VRK1 HP_ENLARGED_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_EPIPHYSES CCN6 CKAP2L CLCN5 COG4 COL10A1 COL11A2 COL2A1 CYP27B1 CYP2R1 GDF5 NKX3-2 PIK3R1 SLC34A3 TRAPPC2 VDR HP_ENLARGED_INTERPHALANGEAL_JOINTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_INTERPHALANGEAL_JOINTS CCN6 COL2A1 HOXD13 KAT6A MATN3 RAB33B HP_ENLARGED_JOINTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_JOINTS CCN6 CHST3 COL11A2 COL2A1 HOXD13 KAT6A KIF7 LIFR MATN3 RAB33B SMARCA2 SRCAP TRPV4 HP_ENLARGED_KIDNEY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_KIDNEY ADNP ALG5 ALG9 ANKS6 BICC1 BMPER CD81 CDKN1C CILK1 CPT2 DICER1 DNAJB11 DYNC2H1 DZIP1L FAH FANCB FIBP G6PC1 GANAB GNPTAB GPC3 GPC4 IFT140 IGF2 INSR INVS KCNQ1 KCNQ1OT1 MYRF NAA10 NEK8 NPHP3 PIK3CA PKD1 PKD2 PKHD1 PRKAG2 SAA1 SLC29A3 SLC37A4 TCTN2 TRPV6 TULP3 VPS33A VPS45 WT1 ZIC3 HP_ENLARGED_METAPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_METAPHYSES B3GAT3 CHST3 COL2A1 EXTL3 RNU4ATAC RPL13 TRAPPC2 HP_ENLARGED_NARIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_NARIS DDR2 MKS1 NAA10 NALCN NSD1 UNC80 HP_ENLARGED_OVARIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_OVARIES AKT1 CYB5A CYP17A1 CYP19A1 ESR1 FSHR INSR KLLN MID1 PIK3CA POR PTEN SDHB SDHC SDHD SEC23B STK11 USF3 HP_ENLARGED_POSTERIOR_FOSSA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_POSTERIOR_FOSSA ABCC9 ACADVL AFF3 ALDH18A1 ALDH7A1 ALG3 AP1S2 APC2 ARID1A ARID1B ARID2 ARMC9 ASXL1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BANF1 BCOR BLTP1 BRF1 BUB1 BUB1B BUB3 C2CD3 CAMSAP1 CC2D2A CCDC22 CDC42 CDH2 CDKN1C CEP120 CEP290 CEP57 CHD7 CLP1 CNOT3 COG1 COL4A1 CPLANE1 CPT2 CRPPA CSF1R CSPP1 CTU2 DAG1 DDX3X DENND5A DHCR7 DOK7 DPF2 DPH1 DPH2 DPH5 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBP EDEM3 ESCO2 EVC EVC2 EXOSC8 FAR1 FBXO28 FGFR1 FKRP FKTN FLNB FLVCR2 FOXC1 FTO GJB2 GJB6 GLI3 GPC3 GPC4 GTPBP2 HRAS HYLS1 IFT80 IGF2 IL6ST KATNB1 KCNQ1 KCNQ1OT1 KIAA0586 KIF21A KIF5A KIF7 KRAS LARGE1 MAB21L1 MAN2B1 MAPKAPK5 MBD5 MID1 MKS1 MTM1 MUSK MYOD1 NDUFC2 NEK8 NPHP3 NRAS NSD1 NUP88 OFD1 OPHN1 PACS2 PGAP2 PHGDH PIEZO2 PIGN PIGU PITX1 PLCH1 PLG PLPBP PMM2 PMPCA POGZ POLR2A POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP1CB PRX RAB18 RAC1 RAPSN RNF113A RNU12 RPGRIP1 RPGRIP1L RXYLT1 SEMA3E SETD2 SH2B1 SH3PXD2B SLC18A3 SLC31A1 SLC35A2 SLC5A6 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 SUFU TBC1D24 TCTN1 TCTN2 TCTN3 TIMMDC1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TRIP13 TUBA1A TUBB TUBB2A TXNDC15 USP9X VPS35L VPS51 VRK1 WASHC5 WDR35 WDR73 WDR81 ZIC1 HP_ENLARGED_SYLVIAN_CISTERN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_SYLVIAN_CISTERN ADGRG1 PGAP1 RAB3GAP1 RAB3GAP2 SPATA5L1 HP_ENLARGED_THORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_THORAX ACAN ACP5 BCOR BMP1 BMPER BRAF CBL CCDC8 CHST3 CILK1 COL13A1 COL2A1 CUL7 DYM EIF2AK3 FBN1 FUCA1 GATA4 GPKOW GUSB HRAS IDH1 INTU KAT6A KDELR2 KRAS LBR LMNA LRP5 LZTR1 MAP2K1 MAPK1 MRAS MYH3 NAA10 NRAS OBSL1 P3H1 PCGF2 POP1 PRKACA PRKACB PTPN11 RAB33B RAB5IF RAF1 RASA2 RIT1 RMRP RRAS RRAS2 SOS1 SOS2 SPRED2 SRCAP TNFRSF11B TRAPPC2 TRIP11 TRPV4 VPS33A WNT4 WNT7A XYLT2 ZMPSTE24 HP_ENLARGED_TONSILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_TONSILS AKT2 CA2 CD40LG IDS IDUA IL2RA PIK3R1 HP_ENLARGED_VESTIBULAR_AQUEDUCT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_VESTIBULAR_AQUEDUCT EYA1 FOXI1 HRAS KCNJ10 MAP3K7 PI4KB SIX1 SLC26A4 HP_ENLARGEMENT_OF_THE_ANKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_ANKLES CLCN5 CYP27B1 CYP2R1 IDH1 SLC34A3 VDR HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION CYP27B1 CYP2R1 DNAJC21 DYM NOG PHEX PRKG2 SBDS SLC34A3 SRP54 HP_ENLARGEMENT_OF_THE_WRISTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_WRISTS AIFM1 CLCN5 CYP27B1 CYP2R1 DMP1 ENPP1 SLC34A3 VDR HP_ENTEROCOLITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTEROCOLITIS ACADVL DEF6 ELANE FCN3 FH IL10RA IL10RB MYH11 NLRC4 OPLAH PIGY PIK3CG PLCG2 RET SLC37A4 STAT1 TOM1 TTC7A HP_ENTHESITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTHESITIS ANKRD55 CD247 DMP1 ENPP1 HLA-B IL2RA IL2RB PHEX PTPN2 PTPN22 STAT4 HP_ENTRAPMENT_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTRAPMENT_NEUROPATHY ARSB B2M CA2 COMP GNAS GNPTAB GSN IDS IDUA SH3TC2 TTR HP_ENTROPION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTROPION ALDH1A3 ATP6V1A ATP6V1E1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GMNN HLA-B IKZF1 LMNA POLH POLR3A PPP2R1A TP63 XPA XPC ZMPSTE24 HP_ENURESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS ADNP AGXT AQP2 AVPR2 BMP1 BNC2 CLCNKB DLG3 DMPK DPH1 DPH2 ELN FA2H FAM20A FOXP1 FOXP2 HPSE2 KCNJ10 KY LRIG2 MLXIPL NPHP3 POLRMT PRKAR1B RNF125 RNF168 SLC12A3 SLC25A13 SLC5A2 SMARCA2 ZMYM2 HP_ENURESIS_NOCTURNA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS_NOCTURNA ADNP AQP2 AVPR2 BMP1 BNC2 FA2H FOXP2 KY PRKAR1B RNF168 SLC5A2 HP_EOSINOPHILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EOSINOPHILIA ADA ASXL1 BCL11B BTNL2 CAPN3 CARD11 CARD9 CASP10 CD247 CD3D CD3E CDSN CHD7 CLPB DCLRE1C DOCK8 ELANE EXTL3 FAS FASLG FOXP3 GFI1 HLA-DRB1 IKBKG IL2RG IL6ST IL7R IPO8 IRF8 JAK1 KIT LIG4 NLRP1 NLRP3 PDGFRA PDGFRB PGM3 PIK3CG PRKCD RAG1 RAG2 RASGRP1 RBM8A RMRP RNU4ATAC SLC27A4 SLC46A1 SPINK5 SREBF1 SRP19 SRP54 SRSF2 STAT3 TBX21 TCIRG1 TET2 TRAC WAS ZAP70 ZNF341 HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS DOCK8 DSG1 SMAD3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 HP_EPENDYMOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPENDYMOMA APC CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 ERBB2 IDH1 IFNG MDM2 MEN1 MLH1 NF2 RELA SETBP1 TP53 TSC1 TSC2 ZFTA HP_EPIBLEPHARON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIBLEPHARON KAT5 MTHFS NCAPG2 TWIST2 YY1 HP_EPICANTHUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS AARS1 ABCA5 ABCC9 ACOX1 ACTB ACTG1 ADA2 ADAMTS2 ADAMTS3 ADAMTSL2 ADAT3 ADNP AFF2 AGO1 AGO2 AHI1 ALDH6A1 ALDOA ALG12 ALG2 ALG3 ALG9 ALX1 ALX3 ALX4 AMER1 ANGPT2 ANK1 ANTXR1 AP1G1 AP3B1 ARID1B ARID2 ARVCF ASXL1 ASXL2 ASXL3 ATN1 ATP6V0A2 ATP6V1B2 ATP9A ATRX AUTS2 B4GALT7 B9D2 BAZ1B BCAS3 BCL11A BCL11B BCL7B BICRA BLNK BMP2 BMPER BPTF BRAF BRAT1 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 BUD23 C12orf4 CAMK2A CARS1 CASK CASZ1 CBL CCBE1 CCDC47 CCDC88A CD79A CD79B CD96 CDC42BPB CDCA7 CDK10 CDK13 CEP57 CERT1 CHAMP1 CHD3 CHD4 CHD5 CHD7 CHD8 CHRNA1 CHRNA7 CHRND CHRNG CLCN3 CLCN7 CLIP2 CNOT1 CNTNAP1 COA3 COG6 COG8 COL11A1 COL18A1 COL1A1 COL1A2 COL25A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT COQ4 CPLANE1 CPLX1 CREBBP CSF1R CSNK2A1 CSPP1 CTBP1 CTCF CTNND2 CUL4B DCHS1 DDB1 DDR2 DDX11 DDX6 DEAF1 DHCR24 DHCR7 DHX16 DHX30 DIS3L2 DLK1 DLX4 DMXL2 DNAJC21 DNAJC30 DNMT3A DNMT3B DOCK3 DPF2 DPH1 DPH2 DPH5 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBF3 EDEM3 EED EEF1A2 EFTUD2 EIF4H EIF5A ELN EP300 EPG5 ERCC2 ERCC3 ERCC4 EXOSC9 EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXL4 FDFT1 FGD1 FGF10 FGF20 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKBP14 FKBP6 FLI1 FLNA FLT4 FOCAD FOXG1 FOXL2 FOXP2 FZD2 GABRD GATA1 GATA2 GATA4 GATAD2B GDF11 GFRA1 GJA1 GJA5 GJA8 GJC2 GLIS3 GNE GNPTAB GP1BB GPC3 GPC4 GPC6 GPT2 GREB1L GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3A H4C5 HBA1 HBA2 HEATR3 HECW2 HELLS HIBCH HIC1 HIRA HK1 HNRNPH2 HNRNPU HOXB1 HRAS HS2ST1 HSD17B4 HSPG2 HUWE1 IFT122 IFT140 IFT43 IFT52 IFT80 IGHM IGLL1 INPP5E INTS1 ITGA8 JARID2 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNH1 KCNJ8 KCTD1 KDM6A KDM6B KIAA0586 KIAA0753 KIF11 KIF1A KIF7 KMT2A KMT2B KMT2D KMT5B KRAS LETM1 LIG4 LIMK1 LMBRD1 LONP1 LRRC8A LUZP1 LZTR1 MAB21L2 MACF1 MAD2L2 MADD MAN1B1 MAN2B1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MARS1 MASP1 MECP2 MED12 MED13L MED25 MEG3 MEGF8 METTL27 MICU1 MINPP1 MKS1 MLXIPL MMP23B MPC1 MPLKIP MRPL12 MSL3 MTSS2 MYCN MYH3 MYMK MYMX NAA10 NAA20 NALCN NANS NBAS NBN NCDN NCF1 NDST1 NELFA NF1 NFIX NONO NOTCH2 NOTCH3 NR2F1 NRAS NSD2 NSDHL NSUN2 NUP188 NXN OFD1 OSGEP PAFAH1B1 PAH PAK2 PALB2 PBX1 PCDHGC4 PDE4D PDE6D PDHX PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM2L1 PHF21A PHIP PIEZO1 PIEZO2 PIGG PIGL PIGN PIGO PIGU PIGV PIGW PIGY PIK3C2A PIK3CA PIK3R1 PLOD1 PLXND1 PMM2 PNPLA6 POLRMT POU3F3 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2CA PPP2R3C PQBP1 PRDM13 PRDM16 PREPL PRKAR1A PRKAR1B PRKCZ PRMT7 PRORP PRPS1 PTCH1 PTCH2 PTEN PTPN11 PUF60 PURA PUS7 QARS1 RAB23 RAB3GAP2 RAD51 RAD51C RAF1 RALA RB1 RECQL4 RERE RET REV3L RFC2 RFWD3 RFX7 RHOBTB2 RIC1 RIN2 RIT1 RMRP RNF113A ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RSPRY1 RTL1 RYR1 RYR3 SALL4 SC5D SCN4A SCNM1 SEC24C SEMA3E SEMA5A SEPTIN9 SETD1A SHANK3 SHOC2 SHROOM4 SIAH1 SIN3A SIX2 SKI SLC17A5 SLC25A24 SLC26A2 SLC35A2 SLC39A7 SLC3A1 SLX4 SMARCA2 SMC5 SMPD4 SNRPB SNX14 SON SOS1 SOX18 SOX4 SOX5 SOX9 SPART SPEN SPI1 SPOP SPRED1 SPRED2 SRCAP SRY STAG2 STX1A SUFU SUPT16H SVBP SYT1 TAF1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX2 TBX22 TBX4 TCF20 TCF3 TCTN3 TFE3 THOC6 THUMPD1 TLK2 TMCO1 TMEM147 TMEM216 TMEM237 TMEM270 TMEM53 TOE1 TONSL TOPORS TPRKB TRAF7 TRAPPC9 TRIO TRIP12 TRIP13 TRMT10A TRRAP TSR2 TUBB TUBB3 TWIST1 TWIST2 UBE2T UBE3A UBE3B UBE4B UFC1 UFD1 UGDH UGP2 UNC80 UQCC2 VDR VPS33A VPS37D VPS51 VPS53 WAC WDR19 WDR35 WDR37 WDR4 WDR73 WNT5A WNT7A WNT9B WT1 WWOX XRCC2 XRCC4 XYLT1 YARS1 YWHAE ZBTB18 ZBTB20 ZBTB24 ZEB2 ZFHX4 ZMIZ1 ZMYM2 ZNF148 ZNF292 ZNF407 ZNF462 ZNF469 ZNHIT3 HP_EPICANTHUS_INVERSUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS_INVERSUS CDC42BPB COL25A1 COLEC10 COLEC11 CSNK2A1 DDB1 EBF3 FOXL2 HUWE1 KAT6B MASP1 MKS1 PEX6 PPP1R12A SIX2 ZFHX4 HP_EPIDERMAL_ACANTHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_ACANTHOSIS AAGAB AKT1 ALOX12B ALOXE3 ATP2A2 CARD14 CAST CDSN CERS3 CIB1 CLDN1 COL14A1 CSTA CYP4F22 DSC3 DSG1 DSP EGFR ELOVL1 ENPP1 EXPH5 GJA1 GJB2 GJB3 GJB6 GRHL2 IL1RN IL36RN JUP KDSR KRT1 KRT13 KRT16 KRT6C KRT74 KRT9 LIPN LORICRIN MBTPS2 NIPAL4 NLRP1 NSDHL PERP POGLUT1 SERPINB7 SERPINB8 SLC27A4 SLURP1 SMARCAD1 TGM1 WNT10A ZNF750 HP_EPIDERMAL_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_HYPERKERATOSIS BRAF ELOVL4 GJA1 KRT1 KRT16 KRT9 LMNA SOX18 ZMPSTE24 HP_EPIDERMAL_NEVUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_NEVUS AKT1 BRAF HRAS KRAS LEMD3 NEK9 NRAS NSDHL PIK3CA PTEN SMO XPA HP_EPIDERMOID_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMOID_CYST ANTXR1 APC CDH1 CEP57 CTNND1 IFNG KRT16 KRT17 KRT5 KRT6A KRT6B POFUT1 POGLUT1 PSENEN TSC1 TSC2 HP_EPIDIDYMITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDIDYMITIS BTK IGHG2 IGKC PSMB8 UNG HP_EPIDURAL_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDURAL_HEMORRHAGE F8 FGA FGB FGG IPO8 SERPINE1 HP_EPIGASTRIC_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIGASTRIC_PAIN ALMS1 CD46 CFH CFI CTNNB1 CTRC HELLPAR MET SPINK1 HP_EPILEPSIA_PARTIALIS_CONTINUA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPSIA_PARTIALIS_CONTINUA COQ8A GABRA1 GABRG2 MRM2 PCDH19 POLG SCN1A SCN1B SCN2A SCN9A TWNK HP_EPILEPTIC_AURA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_AURA ADGRG1 ATP1A2 CACNA1A CNTN2 DEPDC5 EPM2A GAL KCNA1 LGI1 MICAL1 NHLRC1 NPRL2 NPRL3 PCDH19 PDE2A PI4KA PRRT2 RELN SCN1A SCN8A SRPX2 TREX1 HP_EPILEPTIC_ENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_ENCEPHALOPATHY AARS1 ADAM22 AFF3 ALG9 AP2M1 AP3B2 ARHGEF9 ARV1 ARX ATP6V1A BOLA3 CACNA1A CACNA1B CACNA1E CACNA2D2 CAD CARS2 CDKL5 CELF2 CHD2 CHKA CLCN4 CNPY3 COQ4 CPLX1 CRLS1 CUX2 CYFIP2 DCX DENND5A DHDDS DNM1 DNM1L DOCK7 DPAGT1 DPM2 EEF1A2 FCSK FGF12 FRRS1L GABBR2 GABRA1 GABRB1 GABRB2 GABRB3 GABRG2 GLS GNAO1 GRIN1 GRIN2A GRIN2B GRIN2D GUF1 HCN1 HNRNPR HNRNPU KCNA2 KCNB1 KCNC2 KCNQ2 KCNQ5 KCNT1 KCNT2 KMT2E MAST3 MDH1 MDH2 MEF2C NAPB NECAP1 NEUROD2 NEXMIF NRXN1 NSF NTRK2 NUS1 PACS2 PAFAH1B1 PARS2 PHACTR1 PIGA PIGP PLCB1 PMPCB PNPO PPP3CA RNF13 ROGDI SCN1A SCN1B SCN2A SCN3A SCN8A SIK1 SLC13A5 SLC1A2 SLC25A12 SLC25A22 SLC2A1 SLC35A2 SLC38A3 SLC6A1 SPTAN1 ST3GAL3 STAG1 STXBP1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TRIT1 TWNK UBA5 UGDH WWOX ZNF668 HP_EPILEPTIC_SPASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_SPASM ACTL6B ADGRG1 AKT3 ALDH7A1 ALG13 ALG14 ALG2 AP2M1 APC2 ARFGEF1 ARX ASAH1 ASPA ATAD1 ATP1A3 ATP2B1 ATP6V0A1 ATP6V1A ATP7A BTD CACNA1B CASK CDC40 CDH2 CDK19 CDKL5 CELF2 CEP85L CHD2 CHD3 CLCN4 CNPY3 COX4I1 CPLX1 CTNNA2 CUL3 D2HGDH DCX DEPDC5 DHX16 DHX37 DMXL2 DNM1 DOCK7 DOLK DPAGT1 EEF1A2 EHMT1 ERCC5 ERMARD FBLN1 FBXO28 GABBR2 GABRA3 GABRB3 GABRG2 GAD1 GCDH GNAO1 GNB1 GOLGA2 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 GUF1 HCFC1 HDAC4 HIBCH HK1 IFNG KCNA1 KCNB1 KCNC2 KCNQ2 KCNQ5 KCNT1 KCNT2 KDM4B KIF1A LONP1 MACF1 MAPK1 MDH2 MECP2 MFF MGAT2 MMACHC MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTOR NACC1 NAXD NCDN NDUFAF8 NEDD4L NEUROD2 NEXMIF NGLY1 NPRL2 NPRL3 NSF NTNG1 NTRK2 OGDHL PAFAH1B1 PCDH12 PDHA1 PHACTR1 PHGDH PI4KA PIGA PIGP PIGQ PIK3CA PLCB1 PLPBP PNKP PPFIBP1 PPIL1 PPP3CA PRRT2 PRUNE1 PSAT1 PTPN23 PURA RALGAPA1 RNF13 RNU4ATAC RUSC2 SCN1A SCN1B SCN2A SCN8A SEPSECS SETBP1 SIK1 SLC12A5 SLC19A3 SLC1A2 SLC1A4 SLC25A10 SLC25A22 SLC2A1 SLC32A1 SLC35A2 SLC6A1 SMARCA2 SMC1A SPATA5 SPATA5L1 SPTAN1 SPTBN1 SRPX2 ST3GAL3 STAMBP STRADA STXBP1 SUCLA2 SYNGAP1 SYNJ1 TANGO2 TBC1D24 TBCD TBL1XR1 TIMM50 TRAPPC12 TRIM8 TRPM3 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB2A TUBB2B TUBB3 TUBG1 UBA5 UFC1 UFSP2 UGDH VPS53 WDR45 ZNF526 ZNHIT3 HP_EPIPHORA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHORA ATOH7 COL17A1 DKC1 FGF10 FGFR2 FGFR3 FZD4 HLA-DRB1 IGSF3 KRT12 KRT3 LRP1 NDP NHP2 NLRP3 NOP10 OVOL2 PARN SDHD SEMA4A SLC39A14 SREBF1 TACSTD2 TINF2 TYMS HP_EPIPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_DYSPLASIA ARSB B3GALT6 CANT1 CDKN1C COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP DPYD DYM EIF2AK3 EXTL3 FLNB GEMIN4 GNS HSPA9 KIF22 KIF7 LTBP3 MATN3 NPR2 PTH1R RNU4ATAC SLC26A2 TMEM165 TRPV4 XYLT1 HP_EPIPHYSEAL_STIPPLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_STIPPLING AGPS ARSL BMPR1B DDR2 DHCR7 DLK1 EBP FLNB GDF5 GGCX GNPAT GUSB LBR MEG3 MGP NEU1 NSDHL PDE4D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PRKAR1A RTL1 SNRPB THRB VPS35L HP_EPIRETINAL_MEMBRANE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIRETINAL_MEMBRANE APC C1QTNF5 CTNNB1 FZD4 HGSNAT HLA-A LRP5 NDP NF2 NLRP3 TRNT1 TSPAN12 ZNF408 HP_EPISCLERITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISCLERITIS DNASE1L3 MBTPS2 NLRP3 PSMB8 SLC29A3 HP_EPISODIC_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_ATAXIA ARX ATP1A2 ATP1A3 CACNA1A CACNB4 CASK CDKL5 DMXL2 GNAO1 GRIN1 GRM7 KCNA1 KCNQ2 NEUROD2 NFIX OTC PDHA1 PIGP PIGQ PNKP SCN1B SCN2A SIK1 SLC1A3 SLC25A22 SLC2A1 SLC32A1 SLC6A19 TPK1 TRIM8 HP_EPISODIC_FLACCID_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_FLACCID_WEAKNESS CACNA1S GABRA3 KCNE3 KCNJ18 KCNJ2 KCNJ5 SCN4A HP_EPISODIC_HYPERHIDROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERHIDROSIS ABCC8 ALDOB DLST DNMT3A ELP1 EPAS1 FH HNF1A KCNJ11 KIF1A KIF1B MAX MDH2 NF1 RET RETREG1 SCN9A SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 UCP2 VHL WNK1 HP_EPISODIC_HYPERTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERTENSION LBX1 MAX RET SDHB SDHD TMEM127 VHL HP_EPISODIC_HYPOKALEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPOKALEMIA ATP1A1 CACNA1S GABRA3 KCNE3 KCNJ18 SCN4A HP_EPISODIC_METABOLIC_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_METABOLIC_ACIDOSIS ACADS CTNS MCCC1 MMUT NFU1 HP_EPISODIC_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_PAIN ATRX CDC73 CDKN1B CPT2 DAXX DLST DNMT3A EPAS1 ERBB3 ESR1 F12 FH FLI1 GNE HEXB KIF1B LEMD3 LPL MAX MC2R MDH2 MEFV MRAP NF1 NNT PIGA PNPT1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 STAR TGFBI TMEM127 TRPA1 TXNRD2 VHL HP_EPISODIC_RESPIRATORY_DISTRESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_RESPIRATORY_DISTRESS AGRN CHAT COL13A1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MYO9A SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1 HP_EPISODIC_TACHYPNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_TACHYPNEA ACADVL AHI1 ARL13B ARL3 ARMC9 B9D1 B9D2 CBY1 CC2D2A CDKL5 CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 FAM149B1 FBP1 GABBR2 HYLS1 IFT74 INPP5E KATNIP KIAA0586 KIAA0753 KIF7 MECP2 MKS1 NTNG1 OFD1 PDE6D PIBF1 RPGRIP1L SMC1A SUFU TCTN1 TCTN2 TCTN3 TMEM216 TMEM218 TMEM237 TMEM67 TOGARAM1 TOPORS UQCRC2 HP_EPISODIC_VOMITING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_VOMITING ACADVL ADNP ALAD ALDH18A1 ALG11 ARG1 CA5A CCM2 CDC42BPB CDK13 CDK8 COQ2 CPOX D2HGDH FAH FGF13 GAMT GK HMGCL HNRNPK HS3ST6 KRIT1 LBX1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NAXD NDUFS1 NDUFS7 NEXMIF NFIX NLRC4 NOTCH2NLC NSD1 PDCD10 PIK3CA SHANK3 SLC25A15 SLC5A6 SUOX TTR UNC45A UQCRC2 ZEB2 HP_EPISPADIAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISPADIAS ANKRD11 C2CD3 CDC45 CDC6 CDT1 COX7B DVL1 DVL3 DYNC2LI1 EVC EVC2 FZD2 GLI1 GMNN HCCS ISL1 KRAS NDUFB11 ORC1 ORC4 ORC6 PIEZO2 PRKACA PRKACB PTDSS1 SMAD4 SRY TP63 WNT5A HP_EPISTAXIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISTAXIS ACTN1 ACVRL1 ATP8B1 BCOR BLOC1S3 BLOC1S5 CACNA1D CDC42BPB CEBPE CLCN2 CTLA4 CYP11B1 CYP11B2 DTNBP1 ENG EPHB4 EPOR ETV6 F10 F11 F13A1 F13B F2 F5 F7 F8 FCGR2C FERMT3 FGA FGB FGG FIP1L1 FYB1 GATA1 GBA1 GDF2 GFI1B GGCX GIMAP5 GP1BA GP1BB GP6 GP9 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HPS1 HPS3 HPS4 HPS5 HPS6 IFNG IRF2BP2 ITGA2B ITGB3 JAK2 KCNJ5 LMAN1 LMX1B LYST MCFD2 MPL MYD88 MYH9 NABP1 NBEAL2 NPM1 NUMA1 P2RY12 P4HA2 PLAU PML PRF1 PRKACG PRKAR1A PRTN3 PTPN22 RARA RASA1 RASGRP2 RUNX1 SBDS SERPINE1 SLC37A4 SLFN14 SMAD4 SRC STAT3 STAT5B STIM1 STXBP1 TBL1XR1 TBXA2R TERC TERT TET2 VWF WAS WIPF1 ZBTB16 HP_EQUINOVARUS_DEFORMITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINOVARUS_DEFORMITY ATP6V1B2 COL25A1 ERCC6 ERGIC1 FARS2 HADHA HADHB LMX1B PMP22 SCYL2 SLC26A2 TBC1D24 VPS13A HP_EQUINUS_CALCANEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINUS_CALCANEUS AEBP1 FBN1 GJB2 GJB6 HADHA HADHB HOXD10 SYT1 HP_ERECTILE_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERECTILE_DYSFUNCTION ABCD1 AIP AKT1 ANOS1 AR ATXN8OS BAP1 BMP2 BMP6 CACNA1G CCDC141 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COQ2 DCC DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 GALC GNRH1 GNRHR GPR101 GUCY1A1 HAMP HBB HESX1 HEXB HFE HJV HS6ST1 IL17RD IRF4 KISS1 KISS1R LMNB1 MEN1 NDNF NDP NF2 NHLH2 NSMF PDGFB PIGA PIK3CA PROK2 PROKR2 SACS SEMA3A SLC40A1 SMARCB1 SMARCE1 SMO SOX10 SPRY4 SUFU TAC3 TACR3 TERT TFR2 TRAF7 TTR WDR11 HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS ABCC9 ANKH CLCN7 CSF1R GBA1 PLEKHM1 PSAP TCIRG1 HP_EROSION_OF_ORAL_MUCOSA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EROSION_OF_ORAL_MUCOSA COL7A1 DSG3 KRT14 KRT5 LAMA3 LAMB3 LAMC2 MMP1 HP_ERRATIC_MYOCLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERRATIC_MYOCLONUS ARX ATP6V0A1 EPM2A KIF1C NHLRC1 HP_ERUPTION_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERUPTION_FAILURE ANTXR1 APC CDH11 FGFR1 FLNA FLNB HOXD13 IFIH1 LEMD2 LMNA MAP3K7 PTH1R SH3BP2 SMCHD1 TCF4 TRIO ZMPSTE24 HP_ERYSIPELAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYSIPELAS ADAMTS3 ANGPT2 CCBE1 FAM111B FAT4 FLT4 GJC2 KIF11 MEFV PIEZO1 TNFRSF1A HP_ERYTHEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA ADAM17 ADGRE2 AIP ALDH3A2 ALOX12B ALOXE3 ANAPC1 AP1S1 AQP5 ATP2C1 BLM C1QB CD28 CDKN1B CHST8 CLEC7A COL1A1 COL7A1 COX7B CSTA CTLA4 CTSB DDB2 DDR2 DSG4 DSP DST EGFR ELOVL4 ERCC2 ERCC3 ERCC4 ERCC5 FECH FERMT1 GCGR GJA1 GJA5 GJA8 GJB3 GJB4 GLUL GNB2 HCCS HLA-B HLA-DQB1 HLA-DRB1 HPGD IKBKG IKZF1 IL17F IL17RA IL17RC IL36RN ITGA3 KCNQ2 KDSR KIT KRT1 KRT10 KRT14 KRT2 KRT5 KRT83 LIG4 LIPN LORICRIN LRP1 MBTPS2 MEFV MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MVK NAXD NDUFB11 NLRP3 NOD2 NSDHL PDGFB PEPD PERP PGM3 PIGL PLCG2 PORCN PSMB8 PSMG2 RECQL4 RHOH RNF168 SCN10A SCN11A SCN9A SERPING1 SLC39A4 SLURP1 SREBF1 STAT3 STING1 SULT2B1 TGM1 TGM5 TNFRSF1A TNFRSF1B TRAF3IP2 TREX1 TRPM4 TRPV3 USP8 WNT10A XPA XPC XPNPEP2 XRCC4 HP_ERYTHEMATOUS_PAPULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PAPULE COL7A1 DCLRE1C HAVCR2 KIT KRT14 KRT5 MEFV POFUT1 POGLUT1 PSENEN XPA HP_ERYTHEMATOUS_PLAQUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PLAQUE AP1S3 CARD14 COL2A1 COL7A1 EBP HAVCR2 IL36RN KRT10 LDHA MEFV MPDU1 RASA1 SDHD TRPM4 HP_ERYTHEMA_NODOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA_NODOSUM ADA2 BTNL2 HLA-DRB1 LBR LRBA NLRP12 NOD2 PIK3R1 PSMB8 XIAP HP_ERYTHROCYTE_INCLUSION_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROCYTE_INCLUSION_BODIES CASK FADD G6PD GPX1 HBA1 HBA2 HBB PUS1 RPSA STIM1 HP_ERYTHRODERMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHRODERMA AARS1 ABCA12 ADA ADAM17 ALOX12B ALOXE3 AP1B1 AP1S3 ASPRV1 CARD14 CARS1 CD247 CD28 CD3D CD3E CDSN CERS3 CHD7 CTLA4 CYP4F22 DCLRE1C DIP2B DSG1 EBP ELOVL4 ERCC2 ERCC3 EXTL3 FOXP3 GJB2 GJB3 GTF2E2 GTF2H5 IL2RA IL2RG IL36RN IL7R KIT KRT1 KRT10 LIG4 LIPN LSS MBTPS2 MPDU1 MPLKIP NIPAL4 PNPLA1 PRF1 RAG1 RAG2 RBCK1 RMRP RNF113A SDR9C7 SLC27A4 SPINK5 STX11 STXBP2 SULT2B1 TARS1 TGM1 TNFRSF1B TOM1 UNC13D HP_ERYTHROID_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPERPLASIA CBLIF CDAN1 CDIN1 ERBB3 GATA1 GLRX5 HBB KLF1 LARS2 LPIN2 PGK1 PIGA PKLR PUS1 SF3B1 SLC11A2 TET2 UROD UROS HP_ERYTHROID_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPOPLASIA ADA2 G6PC3 GATA1 HEATR3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TCN2 TET2 TP53 TSR2 HP_ESODEVIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESODEVIATION AARS1 ABCC9 ADAT3 ADGRG1 AGRN AGTPBP1 AHCY AHDC1 ALG12 ALG2 ALG9 AMMECR1 ANTXR1 AP1G1 APC ARHGAP31 ARPC4 ASNS ATAD3A ATIC ATOH7 ATP1A2 ATP1A3 B3GAT3 B9D1 BLOC1S3 BPTF CACNA1A CAMK2B CARS1 CDC42BPB CHAT CHMP1A CHST3 CLCN3 CLCN6 CLP1 COG1 COG8 COL11A1 COL12A1 COL13A1 COL25A1 COL4A2 COL6A1 COL6A2 COL6A3 COL8A2 CPLANE1 CRB1 CYB5A CYB5R3 DDB1 DDOST DDX59 DLAT DLK1 DPM1 DPP6 DYRK1A EBP EMC1 ERCC2 ERCC3 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FAM149B1 FBN1 FBXO28 FGF10 FOXP2 FRMD5 FZD4 GALC GBA1 GJA5 GJA8 GLRB GNA14 GNB1 GRHL2 GRID2 GRM1 GTF2E2 GTF2H5 H4C11 H4C3 HERC2 HMGB3 HOXB1 HPDL HPS3 HUWE1 IARS2 IRF2BPL KAT6A KAT8 KCNMA1 KDM6B KIAA0753 KIDINS220 KIF21A KIF7 LAGE3 LGI4 LMBRD2 LMNB1 LRMDA LRP5 LRPPRC MADD MAGEL2 MBD5 MECR MED12 MEG3 MKRN3 MPDZ MPLKIP MYO9A MYOD1 NALCN NCDN NEUROD2 NEXMIF NPAP1 NR2F1 NSD1 NTNG2 OFD1 OVOL2 PAK1 PCDHGC4 PDE4D PDE6D PEX12 PEX5 PGAP2 PGAP3 PHGDH PHOX2A PI4KA PIDD1 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3R1 PLPBP PMM2 POLA1 POLG POU4F1 PPP1R21 PPP2R5D PRKAR1B PTEN PUF60 PURA PUS7 PWAR1 PWRN1 PYCR2 RERE RNASEH1 RNF113A ROBO3 RORA RRAS2 RRM2B RTL1 SALL2 SATB2 SCN4A SCN8A SEC23A SIAH1 SLC12A6 SLC18A3 SLC1A3 SLC25A1 SLC25A46 SLC35C1 SLC38A8 SLC5A7 SNAP25 SNORD115-1 SNORD116-1 SOBP SON SOST SREBF1 SYT1 SYT2 TARS1 TBC1D23 TBC1D2B TBX1 TCTN3 TELO2 TENM3 TMEM216 TMEM222 TOPORS TRIT1 TUBA1A TUBB2B TUBB3 UFC1 UFSP2 UNC80 USP7 VAMP1 VPS50 VRK1 VSX1 WDR45 ZEB1 ZEB2 ZNF408 ZSWIM6 HP_ESOPHAGEAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ATRESIA AR ARNT2 CHD7 DYNC2H1 DYNC2I1 DYNC2I2 EFTUD2 ERCC4 FANCB FANCD2 FANCL FGFR1 FGFR2 FOXF1 HESX1 IFT80 ITGB4 MAMLD1 MYCN OTX2 PAH PAICS PLEC POLA1 PROKR2 RMRP SIX6 SMARCD1 SOX2 SOX3 WBP11 WDR35 YY1 ZIC3 HP_ESOPHAGEAL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_CARCINOMA APC ASCC1 CTHRC1 DCC DLEC1 LZTS1 MSR1 RHBDF2 RNF6 STAT1 TGFBR2 TOM1 WWOX HP_ESOPHAGEAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_NEOPLASM AAGAB APC ASCC1 BLM COL14A1 COL4A5 COL4A6 CTHRC1 DCC DLEC1 FH KIT LZTS1 MSR1 MYH11 PDE11A PDGFRA PRKAR1A RAD21 RHBDF2 RNF6 SDHA SDHB SDHC STAT1 STK11 TGFBR2 TOM1 WWOX HP_ESOPHAGEAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STENOSIS ACD COL4A5 COL4A6 COL7A1 CTC1 DCLRE1B DKC1 FERMT1 GMPPA GRHL2 HLA-B IKZF1 ITGA6 LAMA3 LAMB3 LAMC2 MALT1 MMP1 MYH11 NHP2 NOP10 NPM1 PARN PGM3 RTEL1 SAMD9 TERC TERT TINF2 TYMS USB1 WRAP53 HP_ESOPHAGEAL_STRICTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STRICTURE COL7A1 DCLRE1B DKC1 FERMT1 GRHL2 HLA-B IKZF1 LAMA3 LAMB3 LAMC2 MALT1 MMP1 MYH11 NHP2 NOP10 PGM3 SAMD9 TERT HP_ESOPHAGEAL_ULCERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ULCERATION ASCC1 COL7A1 CTHRC1 MMP1 MSR1 PLA2G4A HP_ESOPHAGEAL_VARIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_VARIX ACVRL1 ADA2 ALMS1 ARHGAP31 ATP7B CALR CBS COG6 DCDC2 DGUOK DLL4 DOCK6 DZIP1L ENG EOGT F5 FARSB GBA1 GBE1 GDF2 GIMAP5 GNB2 JAK2 KIF12 KIF3B KRT18 LIPA MED12 NOTCH1 PHKA2 PHKG2 PKHD1 RBPJ SLC30A10 SMAD4 STN1 TMEM67 TTC26 HP_ESOPHAGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGITIS ADAMTS2 ADAMTSL2 ATAD1 ATP7A CARD8 CARMIL2 CDKN1B DOCK8 DSG1 ELF4 FERMT1 GLRA1 GLRB GPHN GRB10 IARS1 LMX1B MEN1 MYH11 PGM3 PHGDH PSPH REL RPL11 SLC2A10 SLC6A5 SMAD3 STXBP1 TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TRAPPC11 HP_ESOPHORIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHORIA HOXB1 KIDINS220 MECR SCN8A TBX1 HP_ETHYLMALONIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ETHYLMALONIC_ACIDURIA ACADS COX16 ETFA ETFB ETFDH ETHE1 HSPD1 POLG SUCLG1 HP_EUNUCHOID_HABITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUNUCHOID_HABITUS ANOS1 CHD7 CYP19A1 DUSP6 ESR2 FGF17 FGF8 FGFR1 GNRH1 GNRHR HS6ST1 KISS1 KISS1R NHLH2 NSMF PROK2 PROKR2 SPRY4 TAC3 TACR3 TUBB4A WDR11 HP_EURYBLEPHARON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EURYBLEPHARON ACTB ACTG1 CDH1 CTNND1 DLX4 DVL1 DVL3 FZD2 WNT5A HP_EUTHYROID_GOITER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUTHYROID_GOITER DICER1 EYA1 PDE11A PRKAR1A SIX1 HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS CDC42 GRIA3 HNRNPK KDM6A KMT2A KMT2D HP_EVERTED_LOWER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_LOWER_LIP_VERMILION ABCA12 ABHD5 ADAMTS2 ADNP ALOX12B ALOXE3 ANTXR1 ASPRV1 ASXL3 ATRX BAZ1B BCAS3 BCL11A BCL7B BDNF BMP2 BUD23 CCDC8 CDH11 CDKL5 CHAMP1 CHN1 CLIC2 CLIP2 CUL7 CYP4F22 DENND5A DHX30 DNAJC30 DOCK7 EDA EDA2R EDAR EDARADD EDNRA EEF1A2 EHMT1 EIF4H ELN ERCC1 ERCC2 ERCC5 ERCC6 FBXL4 FBXO11 FGD1 FHL1 FKBP6 FOXC1 FOXG1 FRMD4A GBA1 GTF2I GTF2IRD1 GTF2IRD2 H3-3A HGSNAT HRAS HSPG2 IDUA IFT122 IFT43 IFT52 IGF1R IRX5 KANSL1 KCNH1 KCNMA1 KIFBP KMT2C LIMK1 LIPN MAFB MBD5 MCOLN1 MDH1 MECP2 MED12L MED13L MED25 METTL27 MGAT2 MLXIPL MSX1 MYCN MYO18B NCF1 NFIX NIPAL4 NRAS OBSL1 OCRL PACS2 PAX6 PCDHGC4 PIGL PITX2 PLXND1 POMGNT1 PUS7 QRICH1 RAB3GAP1 RAB3GAP2 REV3L RFC2 RPL10 RPS6KA3 SALL4 SCARF2 SDR9C7 SLC25A24 SMARCA2 SMG9 SMS SNRPN SOX11 SPECC1L SRCAP STX1A SULT2B1 TBC1D24 TBL1XR1 TBL2 TFAP2A TFAP2B TFE3 TGM1 TMEM147 TMEM270 TNPO2 TTC26 VPS37D WDR19 WDR35 WT1 ZSWIM6 HP_EVERTED_UPPER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_UPPER_LIP_VERMILION AP4B1 AP4E1 AP4M1 AP4S1 CREBBP DIS3L2 DNMT3A EDA EDA2R EDAR EDARADD EPG5 GBA1 H4C9 KCNH1 KCNK4 KIF7 MAP1B NAA10 RAI1 SETD1A SMARCA4 TCF3 WDR26 HP_EXAGGERATED_CUPID_S_BOW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_CUPID_S_BOW ATP1A2 ATP1A3 B3GLCT CACNA1A CAMSAP1 CHD8 CLCN3 DLK1 DNMT3A EXOC2 FOXG1 GPC4 H3-3A HNRNPK HNRNPU JARID2 KIF7 KMT2A MED25 MED27 MEG3 NRCAM NXN PIGT RALA ROR2 RTL1 SLC1A3 SLC35A2 SMARCA2 SNIP1 SOX4 SUPT16H TBCK TMEM94 TRIP12 ZMIZ1 ZNF462 HP_EXAGGERATED_STARTLE_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_STARTLE_RESPONSE ARHGEF9 ASNS BRAT1 CACNA1I DDC DENND5A FKTN FLRT1 GLB1 GLRA1 GLRB GM2A GPHN GRIA4 HEXA HEXB HIKESHI KLC2 MED11 MTHFS PLAA PURA SLC6A5 SLC6A9 SOD1 TNIK TRAK1 TSPYL1 ZMYM2 HP_EXANTHEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXANTHEM ANK1 ASXL1 BTNL2 CBL EPB42 HLA-DRB1 IKBKG KIT MVK NLRP3 PRF1 RUNX1 SLC4A1 SPTA1 SPTB SRSF2 STX11 STXBP2 TET2 TNFRSF1A UNC13D ZNFX1 HP_EXCESSIVE_DAYTIME_SOMNOLENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_DAYTIME_SOMNOLENCE ACAT1 AKT1 ASH1L BAP1 BRAF CLCNKB COA8 CTNNB1 CTSH DHCR7 DMPK DNMT1 DOK7 DPYS FBP1 FKRP FKTN GJB1 HCRT HLA-DQB1 HLA-DRB1 HMBS HMGCL HTT IL12A IL12RB1 IRF5 KIF21A LARGE1 MMEL1 MOG MTRR MUSK MYOD1 NAA10 NF2 NUP88 P2RY11 PDGFB PIK3CA POMT1 POMT2 POU2AF1 PRPS1 PTS RAPSN SLC12A3 SLC18A3 SLC22A5 SLC2A3 SMARCB1 SMARCE1 SMO SPIB SUFU TBC1D24 TBK1 TERT TICAM1 TLR3 TNFSF15 TNFSF4 TNPO3 TRAF3 TRAF7 TUBA1A TWNK UNC93B1 ZNF365 HP_EXCESSIVE_SALIVATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_SALIVATION ADGRG1 ALS2 ANKLE2 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP10A ATP1A3 ATP6AP2 ATP7B ATRX BCORL1 CACNA1I CAMTA1 CERT1 CHAMP1 CLDN11 DEAF1 DLAT DLK1 DNM1L EIF2S3 EXTL3 FBLN1 FBXO28 FOXG1 FOXP1 FOXP2 GABBR2 GABRA1 GABRG2 GCH1 GFM2 GNS GPT2 GRIK2 GRIN2A GRIN2D HDAC4 HERC1 HIVEP2 HLA-B HNRNPH2 HPDL IKZF1 KCNC2 KIF15 KIF7 LMNB2 LNPK MBD5 MECP2 MED12 MED27 MEG3 MRE11 MTHFS NAA20 NALCN NAXD NEXMIF NFIX NONO NRXN1 NTNG2 OCA2 PAK3 PCDH19 PCGF2 PDE10A PI4KA PIGL PLA2G6 PMP22 POLR3A POLR3B POU3F3 PRPS1 PTS QDPR RAB11B RSRC1 RTL1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN9A SETD5 SH3TC2 SHMT2 SLC12A5 SLC16A2 SLC1A4 SLC25A12 SLC9A6 SLC9A7 SMARCA2 SNRPN SPART SPEN SPTBN1 SRPX2 STRADA SYNGAP1 TANGO2 TASP1 TBX1 TH TSPOAP1 TUBB2B UBE3A VAC14 VPS13A ZBTB11 ZC4H2 ZEB2 HP_EXCESSIVE_WRINKLED_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLED_SKIN ABCC6 ACD ADAMTS2 ADAMTSL2 ATP6V0A2 ATP6V1A ATP6V1E1 BRAF C1R CFTR COG7 COL3A1 CSTA DKC1 ENPP1 FGFR2 FGFR3 H4C5 KRAS LZTR1 MAP2K1 MAP2K2 MRAS PARN PIK3R1 PLOD1 PTEN PTPN11 PYCR1 RAF1 RIT1 RTEL1 SMARCA2 TBL1XR1 TERT TGM5 TINF2 TWIST2 ZNF469 HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN ATP6V0A2 C1R CSTA FGFR2 FGFR3 LZTR1 MRAS PLOD1 RIT1 TBL1XR1 TGM5 ZNF469 HP_EXERCISE_INDUCED_MUSCLE_CRAMPS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS ATP2A1 CAV3 CHCHD10 CPT2 DMD HINT1 LAMA2 LAMP2 MLIP PFKM PGAM2 PGK1 PYGL PYGM RYR1 SLC16A1 HP_EXERCISE_INDUCED_MUSCLE_FATIGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE AMPD1 AMPD3 CACNA1S DBH GABRA3 KCNE3 KCNJ18 PFKM PGK1 SCN4A SLC16A1 TRAPPC11 HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS ATP2A1 CAV3 MLIP PFKM PHKA1 PYGM SCN4A SLC16A1 HP_EXERCISE_INDUCED_MYALGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYALGIA ACADM ACADVL AMPD1 AMPD3 ANO5 BIN1 CAV3 CPT2 DNM2 DYSF FLNC HNRNPA1 LDHA LMNA LPIN1 MATR3 MLIP MT-CO1 MT-CO3 MTMR14 MYF6 OBSCN PFKM PGAM2 PGK1 PHKA1 PYGM RNASEH1 RRM2B RYR1 SLC25A42 STIM1 TMEM126B TRIM32 HP_EXERCISE_INDUCED_MYOGLOBINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYOGLOBINURIA ACADVL CRPPA FKRP LDHA LPIN1 MT-CO1 MT-CO3 OBSCN PFKM PGK1 PHKA1 PYGM HP_EXERCISE_INDUCED_RHABDOMYOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_RHABDOMYOLYSIS ACADVL ALDOA CACNA1S LDHA PYGM RYR1 HP_EXERCISE_INTOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INTOLERANCE ABCC9 ACAD9 ACTA1 ACTC1 AGK ALDH4A1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BCS1L BICD2 BVES C1QBP CAVIN1 CCDC78 CHCHD10 CITED2 COA3 COL12A1 COL13A1 COL9A1 COL9A2 COL9A3 COMP COQ8A CPT2 DMD DNA2 ENO3 FARSA FARSB FLAD1 GAA GATA4 GATA5 GATA6 GCDH GJA5 GMPPB GYS1 HADHA HADHB HINT1 ISCU KBTBD13 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNQ1 KLHL41 LAMP2 LDHA MGME1 MIEF2 MLIP MRPS2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MYH6 MYL4 MYPN NDUFS4 NEB NKX2-5 NKX2-6 NPPA NUP155 OBSCN PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKB PHKG2 PIEZO2 PITX2 PNPLA2 POLG POLG2 POLR2A PUS1 PYGL PYGM RNASEH1 RRM2B RSPH4A RSPH9 SCN1B SCN2B SCN3B SCN4B SCN5A SDHA SLC18A3 SLC22A12 SLC25A32 SLC25A4 SLC2A9 SURF1 SVIL TAFAZZIN TBX20 TK2 TLL1 TMEM126B TOP3A TPM2 TPM3 TRMT5 TTN TWNK YARS2 HP_EXERTIONAL_DYSPNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERTIONAL_DYSPNEA ABCA3 ACADM ACTA2 ACTC1 AGR2 AGRN AK9 ATP11A ATP13A3 BCOR CHRNA1 CHRNB1 CHRND CHRNE CITED2 COA8 COL13A1 COLQ CSF2RB CYB5A CYB5R3 DNA2 DOK7 DPP9 DSP EIF2AK4 ELN ENG EPOR FAM13A FBN1 FIP1L1 FOXE3 GATA4 GATA6 GYG1 HEY2 IRF2BP2 JAK2 LAMB2 LMNA LOX LRP4 MAT2A MFAP5 MT-TN MT-TS1 MUC5B MUSK MYH11 MYH6 MYH7 MYL3 MYLK NABP1 NEB NKX2-5 NPM1 NUMA1 PARN PIEZO2 PLEC PML POLG POLG2 PRKAR1A PRKG1 PYGM RAPSN RARA RRM2B RTEL1 SCN4A SFTPA1 SFTPA2 SFTPC SH2B3 SLC25A4 SLC34A2 SMAD2 SMAD3 SMAD4 STAT3 STAT5B STN1 SURF1 TBL1XR1 TBX20 TERC TERT TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLL1 TNNC1 TRMT5 TWNK VCL ZBTB16 ZMPSTE24 HP_EXODEVIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXODEVIATION ACADSB ADARB1 ADD3 ADGRG1 ADNP AFF4 AIMP1 ALDH3A2 ARPC4 ATP13A2 ATP1A2 ATP1A3 ATRX BCOR BCORL1 BLOC1S3 CACNA1A CACNA1F CDC42 CDH11 COL25A1 COL4A1 CRB1 CRIPT DNMBP DPAGT1 DYRK1A EFNB1 EXOC8 FBN1 FBXW11 FGF10 FGFR2 FGFR3 GALNT2 GJA5 GJA8 GMPPA GNB1 GNB2 GRIA1 H4C5 HACE1 HADHA HMX1 HNRNPH2 HPDL IFT27 KDM1A KDM6B KIF21A LCA5 LRAT LRMDA LYRM7 MADD MC1R MRPS2 MRPS34 MTRFR MYF5 NEDD4L NGLY1 NMNAT1 NONO NR2F1 OCA2 P4HTM PAX6 PCDHGC4 PGM2L1 PHOX2A POGZ POLRMT PRPS1 PRR12 PTRH2 PUF60 PYCR2 PYROXD1 RERE RNF2 RP1L1 RPE65 RPL10 SALL2 SCO2 SIAH1 SLC17A5 SLC1A3 SLC25A46 SLC35A2 SLC6A8 SMAD3 SNRPN SON SOX5 SPATA5 SPATA7 TAF2 TBX1 TGFBR1 TGFBR2 THOC2 TMEM231 TMEM67 TRAPPC11 TRPM3 TUBA1A TUBB2B TUBB3 TYR UBE3A UFSP2 WARS2 WDR11 WDR45 WT1 ZC4H2 HP_EXOPHORIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOPHORIA AFF4 GJA5 GJA8 HACE1 TRAPPC11 HP_EXOSTOSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOSTOSES ACAN AKT1 ALX4 ATP7A CHRNG COL11A2 COL2A1 EXT1 EXT2 FGFR3 IDH1 IDH2 IPO8 MSX2 PHF21A PTEN PTPN11 RAD21 SHOX TRPS1 HP_EXPRESSIVE_APHASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_APHASIA CHMP2B DEPDC5 FA2H GJB1 GRN MAPT NPRL2 NPRL3 PSEN1 TMEM106B TREM2 VCP HP_EXPRESSIVE_LANGUAGE_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_LANGUAGE_DELAY AHDC1 ARID1B ASXL1 CDON DISP1 DLL1 DPYD EHMT1 FGF8 FLCN FOXH1 FOXP1 FOXP2 GAS1 GLI2 GNB1 GNE GNPTAB GRIA3 HERC1 KMT2C KMT2D MED23 NODAL NSD1 POGZ PTCH1 PUF60 RAI1 RSPRY1 SCN4A SDHA SDHAF1 SDHB SDHD SH2B1 SHH SHMT2 SIX3 SLC25A36 SPATA5 SRCAP STAG2 STIL TAF1 TDGF1 TGIF1 TNNT1 TUBB3 WARS2 YARS1 YME1L1 ZEB2 ZIC2 HP_EXTERNAL_EAR_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_EAR_MALFORMATION ADAMTS3 ANK1 BCOR BLNK BRCA1 BRCA2 BRIP1 CCBE1 CD79A CD79B CHD7 CHN1 CHST14 CTH DACT1 DSE EDN1 ERCC4 ESCO2 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FGD1 FGFR2 FGFR3 FRAS1 FREM2 GATA4 GJA1 GNAI3 GRIP1 IGHM IGLL1 KIF1A LRRC8A MAD2L2 MAFB MAPRE2 NAA10 PALB2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3R1 PLCB4 PURA RAD51 RAD51C RFWD3 SALL1 SALL4 SEMA3E SIX1 SIX5 SLC39A7 SLX4 SPI1 TBCE TCF3 TP63 TUBB TWIST1 UBE2T XRCC2 ZNHIT3 HP_EXTERNAL_GENITAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_GENITAL_HYPOPLASIA ABCA4 ACTA1 ACTB ADAR ADAT3 AGBL5 AHI1 AHR ALG12 ALKBH8 ALMS1 ALOX12B ALOXE3 ALX4 ANK1 ANOS1 AR ARCN1 ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARNT2 ARX ATAD3A ATP6V1A ATP6V1E1 ATRX AXL B3GALNT2 B3GLCT B4GAT1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BEST1 BLTP1 BMP4 BRCC3 BRD4 BUB1B BUD23 C2CD3 CA4 CAMK2A CASK CASZ1 CATIP CC2D2A CCDC141 CCDC22 CCDC28B CCDC34 CCNQ CDC42BPB CDC45 CDC6 CDH11 CDH2 CDHR1 CDKL5 CDKN1C CDON CDT1 CENPT CEP112 CEP19 CEP290 CEP41 CERKL CFAP418 CFTR CHD4 CHD7 CHRM3 CHRNG CILK1 CLIP2 CLRN1 CNGA1 CNGB1 COG5 COL4A1 COLEC10 COX7B CPE CRB1 CRPPA CRX CT55 CTCF CTDP1 CTU2 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DCX DDB2 DDX3Y DDX6 DHCR7 DHDDS DHODH DHX37 DHX38 DIS3L2 DISP1 DKC1 DLK1 DLL1 DMRT3 DMXL2 DNAH10 DNAJC19 DNAJC30 DNHD1 DPM1 DPM2 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 ECE1 ECEL1 EED EHMT1 EIF2S3 EIF4H ELN ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR2 EXT2 EYS EZH2 FAM111A FAM161A FANCB FANCD2 FANCF FANCL FANCM FARSB FAT4 FBN1 FBXO43 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FIG4 FKBP6 FKRP FKTN FLRT3 FMR1 FOXA2 FOXH1 FRAS1 FREM2 FSCN2 FSHB FXR1 FZD2 GABRD GAD1 GAS1 GATA4 GBA2 GH1 GHR GLI2 GLI3 GLYCTK GMNN GMPPB GNAO1 GNB2 GNRH1 GNRHR GPC3 GPC4 GPR161 GRIA3 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C9 HCCS HDAC8 HERC1 HERC2 HESX1 HGSNAT HID1 HMGA2 HNRNPR HOXA13 HOXD13 HS6ST1 HSD3B2 HSPG2 HUWE1 IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGF2 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INPP5K INTU IRF6 ISL1 KAT6B KATNIP KCNA1 KCNAB2 KCNJ6 KDM5C KDM6A KIAA0586 KIAA0753 KIAA1549 KIF7 KISS1 KISS1R KIZ KLF1 KLHL10 KLHL15 KLHL40 KLHL41 KLHL7 KMT2D LAMA5 LARGE1 LEP LEPR LHB LHCGR LHX4 LIG4 LIMK1 LMNA LMNB2 LMOD3 LMX1B LRAT LSM11 LSS LUZP1 LZTFL1 MADD MAGEL2 MAK MAMLD1 MAP3K1 MAP3K7 MAPRE2 MBD5 MBTPS2 MCM8 MCTP2 MED12 MEG3 MEGF8 MEIOB MERTK METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MNX1 MOGS MOV10L1 MSH5 MTM1 MYH3 MYRF NAA10 NANOS1 NCF1 NDN NDNF NDUFB11 NEB NECTIN1 NEK1 NEK2 NEUROD2 NHLH2 NIPBL NODAL NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRL NSD1 NSMF NXN OCA2 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PBX1 PCARE PDE6A PDE6B PDE6G PDHA2 PDPN PEX1 PEX6 PHF21A PHF6 PHF8 PHGDH PIEZO2 PIGA PIGP PIGQ PLAG1 PMM2 PNKP PNLDC1 PNPLA6 POC1A POLA1 POLE POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPP1R12A PPP2R3C PQBP1 PRCD PRDM13 PRDM16 PRKCZ PRKDC PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PSMC1 PSMD12 PTCH1 PTDSS1 PTPN11 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAD51C RBMY1A1 RBP3 RDH12 REEP6 RERE RFC2 RFX7 RGR RHO RIPK4 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNF212 RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL10L RSPO1 RSPO2 RTL1 RTTN RXYLT1 RYR1 SAG SALL1 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCLT1 SCN1B SCN2A SDCCAG8 SEMA3A SEMA3E SEMA4A SETBP1 SGPL1 SHH SHOC1 SIK1 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC25A22 SLC25A24 SLC29A3 SLC32A1 SLC39A4 SLC7A14 SMAD4 SMARCA2 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOHLH1 SOX10 SOX2 SOX3 SOX9 SPAG17 SPATA7 SPEN SPRY4 SPTBN1 SRA1 SRD5A2 SRY STAG1 STAG3 STT3A STT3B STX1A STXBP1 SUFU SUZ12 SYCE1 SYCP3 TAC3 TACR3 TAF4B TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBX3 TCF12 TCF4 TCOF1 TCTN3 TDGF1 TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 TGIF1 THOC2 THOC6 TMEM216 TMEM270 TOE1 TOGARAM1 TOPORS TP63 TREX1 TRIM32 TRIM8 TRPM3 TRRAP TSPY1 TSPYL1 TTC8 TUB TUBB TULP1 TWIST2 TYMS UBA1 UBE2A UBE3B UBE4B UBR1 UBR7 USH2A USP7 USP9Y VAC14 VAMP7 VPS35L VPS37D WASHC5 WDPCP WDR11 WDR35 WNT5A WNT7A WT1 WWOX XPA XPC XRCC2 XRCC4 YWHAE ZEB2 ZFPM2 ZIC2 ZMPSTE24 ZMYND15 ZNF408 ZNF513 ZPR1 HP_EXTERNAL_OPHTHALMOPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_OPHTHALMOPLEGIA ACADS APTX ATG7 ATXN3 BIN1 C1QBP COL25A1 DGUOK DNA2 DNM2 FA2H FRG1 GIPC1 HPDL KIF21A LIG3 LRP12 LYRM7 MFF MGME1 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MTM1 MTMR14 MTRFR MYF5 MYF6 NDUFAF2 NOTCH2NLC NSUN3 NUTM2B-AS1 OPA1 PHOX2A POLG POLG2 POLRMT RILPL1 RNASEH1 RRM2B RYR1 SALL4 SCN4A SDHA SDHAF1 SDHB SDHD SLC19A3 SLC25A4 SLC52A3 STIM1 STUB1 TK2 TOP3A TUBA1A TUBB2B TUBB3 TWNK TYMP VARS2 HP_EXTRACTABLE_NUCLEAR_ANTIGEN_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRACTABLE_NUCLEAR_ANTIGEN_POSITIVITY BANK1 BLK C1QB C4A C4B CR2 CTLA4 DNASE1 ETS1 FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L MECP2 PDCD1 PTPN22 PXK SOCS1 SPP1 STAT4 TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 HP_EXTRAHEPATIC_CHOLESTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAHEPATIC_CHOLESTASIS BRCA1 BRCA2 CDKN1B CDKN2A KRAS PALB2 PALLD RABL3 SMAD4 TP53 HP_EXTRAMEDULLARY_HEMATOPOIESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAMEDULLARY_HEMATOPOIESIS AKR1D1 ANK1 CA2 CALR EPB42 FERMT3 FGFR2 HBB JAK2 LARS2 MPL OSTM1 RBM10 SLC4A1 SPTA1 SPTB TET2 TNFSF11 VPS45 HP_EXTRAPYRAMIDAL_DYSKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_DYSKINESIA ACAT1 C9orf72 DPYS SLC2A1 TSEN2 TSEN54 HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY ADAR ATP6AP2 CLN3 HLA-DQB1 IFIH1 LSM11 MAPT MICU1 OPA3 PRNP RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TAF1 TREX1 HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION BICD2 COPB2 EXOSC2 GRIK2 LMNB1 LMNB2 MADD NUP214 PPP1R21 STAMBP TBCK TET3 TRAPPC12 TSEN15 HP_EXUDATIVE_RETINAL_DETACHMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_RETINAL_DETACHMENT CFH CFI EFEMP1 FRG1 IGFBP7 HP_EXUDATIVE_VITREORETINOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_VITREORETINOPATHY BAP1 CTNNB1 FZD4 LRP5 NDP TSPAN12 VCAN ZNF408 HP_EYELID_APRAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_APRAXIA ATP13A2 MAPT PANK2 PLA2G6 SYNJ1 HP_EYELID_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_COLOBOMA ADAR ADNP ALX1 CCNQ CDH11 CHD7 DHODH EDNRA ESCO2 FGFR1 FLI1 FRAS1 FREM1 IFIH1 KCTD1 KRAS LSM11 POLR1A POLR1B POLR1C POLR1D RIPK4 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL26 SAMHD1 SEMA3E SF3B2 SF3B4 SLC25A24 TCOF1 TREX1 TWIST1 TXNL4A HP_EYELID_MYOCLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_MYOCLONUS ASAH1 ATP1A3 DHFR GRIN1 KCNC2 PLA2G6 RORA RORB SLC6A1 HP_EYE_MOVEMENT_INDUCED_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_MOVEMENT_INDUCED_PAIN AGBL1 COL8A2 SLC4A11 TCF4 ZEB1 HP_EYE_OF_THE_TIGER_ANOMALY_OF_GLOBUS_PALLIDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_OF_THE_TIGER_ANOMALY_OF_GLOBUS_PALLIDUS C19orf12 COASY DLAT FA2H FTL NUDT2 PANK2 PLA2G6 VPS41 WDR45 HP_EYE_POKING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_POKING CRB1 GUCY2D NMNAT1 RPE65 TULP1 HP_FACIAL_ASYMMETRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ASYMMETRY ADAT3 AKT1 AKT2 ANOS1 ASPH ATR BCR BMP4 BRCA1 BRCA2 BRIP1 CDH11 CDK13 CEP152 CEP85L CHD7 CHN1 CHRNG CHST14 CLTCL1 COL1A1 COL2A1 CPLX1 CRKL CTBP1 CTNND1 DACT1 DDX59 DHX37 EBP EDN1 EDNRA EFNB1 ELMO2 ELOVL4 ERCC4 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF9 FGFR2 FGFR3 FGFRL1 FLI1 FLNA FN1 FRAS1 GDF3 GDF5 GDF6 GNAI3 GNAS GUSB H19 HRAS IGF2 KAT6A KCNJ2 KCNJ5 KCNQ1OT1 KDM4B KMT2A KMT2D KRAS LETM1 LRP4 MACF1 MAD2L2 MAF MAFB MAN2C1 MAPK1 MEOX1 MYCN MYH3 MYH8 NBAS NF1 NFIX NOG NRAS NSD2 NTRK2 OFD1 PALB2 PAX1 PIEZO2 PIGN PIK3CA PKD2 PLCB4 POLR1B PORCN PPP2R1A PPP2R5D PSMD12 PTEN PUF60 PURA RAD51 RAD51C RFWD3 RFX7 RHOA SALL1 SALL4 SATB2 SEMA3E SEPTIN9 SET SF3B2 SIN3A SIX1 SIX5 SLC12A6 SLC37A4 SLX4 SMC1A SMC3 SMO SMS SON SOX5 SP7 TRIO TRPM3 TWIST1 UBE2T USP9X XRCC2 YY1 ZIC1 HP_FACIAL_CAPILLARY_HEMANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CAPILLARY_HEMANGIOMA CD96 DHCR7 EPHB4 ESCO2 GLI3 MGAT2 POR RASA1 RBM8A RECQL4 TRPM3 HP_FACIAL_CLEFT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CLEFT ALX1 ALX4 COLEC10 DYNC2H1 DYNC2I1 DYNC2I2 EVC EVC2 FRAS1 IFT80 POLR1B POLR1C POLR1D RIPK4 SF3B2 SPECC1L TCOF1 WDR35 ZSWIM6 HP_FACIAL_DIPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_DIPLEGIA ABCA1 ACTA1 ADCY6 ADGRG1 BIN1 CFL2 CNTNAP1 COL25A1 CRPPA CRYAB DMPK FKRP FKTN GLE1 KBTBD13 KLHL40 KLHL41 LMOD3 MPZ MTRFR MYPN NEB PI4KA POLG POLG2 POMT1 RRM2B RYR1 SCO2 SHMT2 SLC12A6 SLC25A4 SLC52A3 SOST SPEG SRPX2 SUCLA2 TK2 TPM2 TPM3 TTN TWNK VCP YME1L1 ZFHX4 HP_FACIAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_EDEMA ACTB ACTG1 ACTN4 ADAMTS2 AIP ALB ANAPC1 ANGPT1 ANKFY1 ANLN ANTXR1 APOL1 ARHGAP24 ARHGDIA BAZ1B BCL7B BUD23 CAMTA1 CCBE1 CD2AP CDH11 CLIP2 COL1A1 COL4A3 COL5A1 COL5A2 COQ8B CRB2 CTLA4 DAAM2 DHX30 DNAJC30 DNMT3B DUOX2 DUOXA2 DUX4 DUX4L1 EIF4H ELN EMP2 EPHB4 F12 FKBP6 FOXG1 FRG1 FRMD4A GAPVD1 GNPTAB GPR101 GSN GTF2I GTF2IRD1 GTF2IRD2 HAVCR2 HESX1 HLA-DPA1 HLA-DPB1 HS3ST6 IGSF3 INF2 IYD KAT6A KCTD1 KIF1A KNG1 KNSTRN KPTN LHX3 LHX4 LIMK1 LTBP4 MAGI2 MED12L METTL27 MLXIPL MYD88 MYO1E MYOF NCF1 NEU1 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PEX2 PEX5 PIEZO1 PIK3CD PLCE1 PLG POMP POU1F1 POU4F1 PROP1 PRTN3 PSMB4 PSMB9 PSPH PTPN22 PTPRO RECQL4 RFC2 RIN2 SERPING1 SHANK3 SLC29A3 SLC35C1 SLC5A5 SMCHD1 SNX14 SOX18 SPTBN1 STX1A SUMF1 TBC1D8B TBL2 TG TGFBI TMEM270 TNFRSF1A TPO TRPC6 TSHB VPS37D WT1 XPNPEP2 ZNHIT3 HP_FACIAL_ERYTHEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ERYTHEMA ADGRE2 AIP ANAPC1 BLM C1QB GJA1 GNB2 KCNQ2 MBTPS2 RECQL4 RHOH USP8 HP_FACIAL_GRIMACING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_GRIMACING ALDH7A1 ATXN8OS CP CREBBP EP300 GATAD2B GLI3 LRIG2 PANK2 PDE2A PLPBP PNKD HP_FACIAL_HEMANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HEMANGIOMA ASXL1 CCDC22 CD96 DHCR7 DPYSL5 EPHB4 ESCO2 GLI3 GNA14 GNAQ MGAT2 POR PPP1CB RASA1 RBM8A RECQL4 SETBP1 SLC26A2 SRD5A3 STAC3 TRPM3 VPS35L WASHC5 HP_FACIAL_HYPEROSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPEROSTOSIS AKT1 AMER1 GJA1 PTDSS1 SOST HP_FACIAL_HYPERTRICHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPERTRICHOSIS ABCA5 ADAMTS3 ADAT3 AFF3 AFF4 AIP ALG9 AMMECR1 ANKRD11 ARID1B ARL3 ARX ASH1L ASXL1 ASXL2 ASXL3 ATP6V1B2 B3GLCT BCAS3 BICRA BMP2 BPTF BRD4 CCDC47 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDKL5 CDON CERT1 CHD5 CHMP1A CHRNA7 CHSY1 CLCN3 CLP1 COX5A CREBBP CSNK2A1 CTCF CUL4B CWF19L1 DDB1 DEAF1 DHX30 DOCK7 EBF3 EDN3 EDNRB EHMT1 EMC10 EP300 ERLIN2 FBXO28 FBXO31 FGF3 FGFR1 FHL1 FLII FRA10AC1 FREM1 GABRA3 GATA1 GJA5 GJA8 GNB2 GNE GNS GPR101 HDAC8 HEATR3 HECTD4 HGSNAT HID1 HIVEP2 HMGA2 HNRNPU HSPA9 IGF1R IL1RAPL1 INSR IQSEC2 JARID2 KATNB1 KCNH1 KCNK4 KCNMA1 KCNN3 KDM1A KDM4B KIF26A KIFBP KIT KLF13 KMT2A KNL1 LEMD3 MAB21L1 MAP1B MAPK8IP3 MAPRE2 MASP1 MBD5 MED13 MED27 MITF NAGLU NANS NDST1 NECTIN1 NFIX NIPBL NMNAT1 NOTCH2 NSUN2 NUDT2 OGT PACS1 PACS2 PAX3 PCDHGC4 PHF8 PHIP PIGN POLR3A PPP1R15B PRKG2 PRR12 PSMC3 PSMD12 PTCH1 RAB3GAP1 RAC1 RAD21 RAI1 RPS23 RUSC2 SCN4A SETBP1 SETD5 SGSH SLC1A4 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SMS SNAI2 SNX14 SOX10 SPEN SPOP SPTBN1 STAG1 TAF1 TAF6 TALDO1 TASP1 TBCD TBCK TFE3 TMCO1 TMEM147 TMEM94 TOE1 TRAPPC10 TRAPPC9 TRIM8 TRIO TRMT1 TRMT10A TTI2 TUBGCP2 UBE2A UFC1 UGDH UGP2 UQCC2 UROD UROS VPS33A WAC WARS1 WNT4 XYLT1 ZBTB20 ZIC2 ZMYND11 ZNF292 ZNF407 ZNF699 ZNF711 HP_FACIAL_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPOTONIA AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 ASXL1 ATP1A2 ATP1A3 CACNA1A CAMK2G CHAMP1 DMPK DSE DYNC1H1 GAA GPC3 GPC4 GRIA3 HERC1 KCNK4 KDM4B KDM5C MAN2B1 MECP2 MYOT NGLY1 PAX7 PCGF2 POGZ POU3F3 PPP2R1A PPP2R5D PURA RAB11B SATB2 SET SLC1A3 SLC30A9 STAG2 STRADA TET3 UNC80 VPS13B XYLT2 YY1 ZBTB11 ZMIZ1 HP_FACIAL_MYOKYMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_MYOKYMIA ABCD1 ADCY5 ATP13A2 LGI3 PNPT1 PPP2R2B PRKCG SPTBN2 HP_FACIAL_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_PARALYSIS ATP1A2 CACNA1A CLCN7 COL4A1 MTRFR NFU1 PRRT2 SCN1A SH3TC2 TCIRG1 TNFSF11 HP_FACIAL_SHAPE_DEFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_SHAPE_DEFORMATION ACE AGT AGTR1 CEP55 FGF20 GFRA1 HIBCH ITGA8 MAN2B1 NPHP3 PAX2 PBX1 PKHD1 REN UBA1 HP_FACIAL_TELANGIECTASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TELANGIECTASIA ACVRL1 ARPC4 ARX ATR ATRX BLM CAST DAXX GNPTAB POLE SDHD SLC29A3 SLC2A10 SOX18 VPS53 WNT10A HP_FACIAL_TICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TICS ATP1A2 CACNA1A GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH19 PLA2G6 PNPT1 PRRT2 SCN1A SCN1B SCN2A SCN9A TTR HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH FLNB MAP3K7 PTH1R SMCHD1 TCF4 HP_FAILURE_TO_THRIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE AARS1 AARS2 AASS ABCA12 ABCA3 ABCB11 ABCC6 ABCC8 ABCD1 ABCD4 ABL1 ACAD9 ACADS ACD ACO2 ACOX1 ACSF3 ACSL5 ACTA1 ACTB ACTG1 ACTL6B ACVR1 ADA ADAM17 ADAR ADAT3 ADCY5 ADH5 ADK ADNP AFF3 AGPAT2 AGPS AGR2 AGTPBP1 AGXT AHCY AHDC1 AIMP1 AK2 AKR1D1 AKT1 ALAD ALDH18A1 ALDOB ALG11 ALG12 ALG3 ALG6 ALG8 ALG9 ALOX12B ALOXE3 ALPL AMACR AMER1 AMN ANKRD55 ANO1 ANTXR2 AP1B1 AP3B2 AQP2 ARCN1 ARFGEF2 ARHGAP31 ARID1B ARPC1B ARV1 ARVCF ARX ASAH1 ASCL1 ASL ASNS ASS1 ASXL1 ASXL3 ATM ATP1A2 ATP1A3 ATP5F1A ATP5F1B ATP6AP1 ATP6V0A2 ATP6V0A4 ATP6V1A ATP6V1E1 ATP7A ATP7B ATP8B1 ATP9A ATPAF2 ATXN7 AUH AVPR2 B3GALT6 B4GALT7 BANF1 BAZ1B BCAP31 BCL7B BCS1L BICRA BLNK BMP4 BMPR1A BPTF BRAF BRCA1 BRCA2 BRD4 BRF1 BSCL2 BSND BTK BUD23 C2orf69 CA12 CA2 CACNA1A CACNA1B CACNA2D1 CAD CAMKMT CARMIL2 CARS1 CARS2 CASK CASP8 CASR CASZ1 CAV1 CAVIN1 CBFB CBL CBS CD19 CD247 CD3D CD3E CD3G CD40LG CD79A CD79B CD81 CD96 CDC45 CDC6 CDK19 CDKL5 CDON CDT1 CEACAM3 CEACAM6 CELF2 CENPJ CENPT CERS3 CFTR CHD7 CHRM3 CHRNA3 CHRNG CIITA CIT CLCA4 CLCN3 CLCNKA CLCNKB CLDN16 CLIP2 CLMP CLTC CNKSR2 COA8 COG1 COG4 COG6 COG7 COG8 COL12A1 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COL7A1 COMT COPB2 COX10 COX4I1 COX4I2 COX5A COX7B CPLANE1 CPLX1 CPS1 CPSF3 CR2 CREBBP CSF2RA CSF2RB CSNK2A1 CSPP1 CTBP1 CTCF CTNS CUBN CUL3 CYB5A CYC1 CYFIP2 CYP11A1 CYP11B2 CYP17A1 CYP24A1 CYP27B1 CYP2R1 CYP7B1 DACT1 DALRD3 DCLRE1C DCTN4 DDB2 DDOST DEAF1 DEGS1 DGAT1 DGUOK DHCR24 DHCR7 DHDDS DISP1 DKC1 DLD DLL1 DLL4 DMXL2 DNAJC19 DNAJC21 DNAJC30 DNASE2 DNM1 DNM1L DNMT3B DOCK6 DOLK DPAGT1 DPM1 DPM2 DPP9 DPYD DSG1 DSP DYM DYNC2I1 DYNC2LI1 DYRK1A EARS2 EBP ECE1 EDN3 EDNRA EDNRB EEF1A2 EFL1 EGFR EHMT1 EIF4H EIF5A ELAC2 ELMO2 ELN EN1 ENPP1 EOGT EP300 EPCAM EPG5 EPRS1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ETHE1 EVC EVC2 EXOSC3 EXOSC8 EXOSC9 FAH FAM111A FAM149B1 FANCF FARSB FBN1 FBXL4 FBXO28 FCGR2A FDFT1 FDXR FGD1 FGF12 FGF13 FGF8 FGFR1 FGFRL1 FH FIG4 FKBP6 FLCN FLII FLNA FMR1 FOCAD FOS FOXH1 FOXP1 FOXP3 FOXRED1 FTO FUCA1 FUT8 FZR1 G6PC3 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GALE GALK1 GALM GALT GAS1 GATA6 GATM GBA1 GBE1 GCDH GCK GCLC GDNF GFAP GGPS1 GJA1 GJA5 GJA8 GJB2 GJB6 GLB1 GLI1 GLI2 GLUD1 GLYCTK GMNN GNAO1 GNB1 GNB2 GNPAT GNPTAB GOLGA2 GP1BB GPD1 GPIHBP1 GPR161 GPT2 GRB10 GRIA4 GRIN1 GRIN2D GRM7 GSTM3 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GYS2 H19 H3-3B H4C5 HACD1 HADH HADHA HADHB HBA1 HBA2 HBB HCCS HCFC1 HCN1 HDAC8 HERC2 HESX1 HEXB HFE HIBCH HIKESHI HIRA HIVEP2 HLA-DQA1 HLA-DQB1 HMGA2 HMOX1 HNRNPH1 HNRNPH2 HNRNPK HPD HPDL HRAS HSD11B2 HSD17B4 HSD3B2 HSD3B7 HSPG2 HTRA2 HYMAI IARS1 ICOS IDH1 IFNG IFT140 IGF1 IGF2 IGHM IGHMBP2 IGLL1 IKBKB IKBKG IL1RN IL21 IL21R IL2RA IL2RB IL2RG IL7R INS INSR IPO8 IQSEC2 IRF2BP2 IRF8 ITCH ITGA7 JAG1 JAGN1 JAK1 JAK3 JMJD1C KANSL1 KARS1 KAT6B KCNA1 KCNA2 KCNAB2 KCNB1 KCNJ1 KCNJ11 KCNJ6 KCNN4 KCNQ2 KCNT1 KDM5C KDM6A KIAA0586 KIAA0753 KIF15 KIF1B KIF7 KLLN KMT2A KMT2C KMT2D KMT5B KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA3 LAMB3 LAMC2 LARS1 LAT LBR LCK LEMD3 LETM1 LGI3 LHX4 LIG4 LIMK1 LINS1 LIPA LMBRD1 LMNA LMNB1 LPIN2 LRBA LRPPRC LRRC8A LRRK1 LTC4S LUZP1 LYRM4 LYRM7 MAGEL2 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPKAPK5 MARS1 MARS2 MBL2 MBTPS2 MC2R MCCC1 MCCC2 MCEE MCM4 MCTP2 MDH2 MECP2 MECR MED12 MED17 MEGF10 METTL27 MGAT2 MICOS13 MIF MIPEP MKKS MKRN3 MLXIPL MMAA MMAB MMACHC MMADHC MMP23B MMUT MPDU1 MPI MPV17 MRAP MRPL12 MRPL3 MRPS14 MRPS2 MRPS28 MRPS7 MS4A1 MSMO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTO1 MTR MTRFR MTRR MTTP MVK MYH3 MYH7 MYL2 MYMK MYMX MYO5B MYOD1 NACC1 NADK2 NAGS NALCN NCAPG2 NCF1 NDN NDP NDUFA1 NDUFA11 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NELFA NEUROD2 NEUROG3 NEXMIF NFASC NFE2L2 NFIA NFIX NFKB1 NFKB2 NFKBIA NFU1 NGLY1 NHLRC2 NIPAL4 NIPBL NKX2-1 NLRC4 NLRP1 NNT NODAL NONO NOTCH1 NOTCH2 NPAP1 NR0B1 NR1H4 NR3C2 NRCAM NRTN NSD2 NSMCE3 NSRP1 NSUN3 NTRK2 NUBPL NUP214 NUP54 NUP62 NUS1 OCA2 OCLN OCRL OFD1 OGDHL ORAI1 ORC1 ORC4 ORC6 OSGEP OTC OTUD6B OTULIN PACS1 PACS2 PARN PARS2 PAX2 PBX1 PCCA PCCB PCGF2 PCSK1 PDE6D PDGFRB PDHX PDPN PDX1 PEPD PERCC1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGM3 PHGDH PHKA2 PHKG2 PHOX2B PIEZO2 PIGA PIGB PIGG PIGP PIGQ PIK3CA PIK3CD PIK3R1 PKP1 PLAA PLAGL1 PLCB1 PLCH1 PLP1 PMM2 PMPCB PNKP PNP PNPLA1 PNPO PNPT1 POC1A POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR2A POLR3A POLR3K POMC POMP POU1F1 PPARG PPFIBP1 PPM1B PPP1CB PPP3CA PRDM16 PRDX1 PREPL PRF1 PRKACA PRKACB PRKCD PRKCZ PRMT7 PROKR2 PRPS1 PSAP PSAT1 PSMB10 PSMB4 PSMB8 PSMB9 PSMC1 PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTPN11 PTPN2 PTPN22 PTRH2 PUS1 PUS3 PWAR1 PWRN1 PYCR1 PYCR2 PYGL RAB3GAP1 RAC2 RAD21 RAG1 RAG2 RAI1 RAPSN RARB RARS2 RASGRP1 RBCK1 RBM10 RBPJ RECQL4 RELB RERE RET RFC2 RFT1 RFX5 RFXANK RFXAP RIPK1 RIT1 RMRP RNF13 RNF2 RNU4ATAC RNU7-1 ROBO1 RPL5 RPS19 RREB1 RRM2B RTEL1 RTTN RYR1 RYR3 SALL1 SAR1B SARS2 SBDS SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCNN1A SCNN1B SCNN1G SCO1 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC31A SELENON SEMA3C SEMA3D SERAC1 SERPINA1 SETBP1 SETD2 SFTPB SFTPC SGO1 SH2B1 SH3TC2 SHH SHOC2 SIK1 SIL1 SIM1 SIN3A SIX3 SKI SKIC2 SKIC3 SLC10A2 SLC11A1 SLC12A1 SLC12A3 SLC12A5 SLC13A5 SLC16A2 SLC17A5 SLC1A2 SLC1A3 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A21 SLC25A22 SLC25A24 SLC25A3 SLC25A4 SLC25A46 SLC26A3 SLC26A9 SLC2A2 SLC30A9 SLC32A1 SLC34A1 SLC34A3 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC39A13 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC46A1 SLC4A1 SLC51A SLC5A1 SLC6A14 SLC6A8 SLC7A7 SLC9A3 SMAD4 SMARCA2 SMARCAL1 SMARCC2 SMARCD2 SMC1A SMC3 SMO SMOC1 SMPD1 SNAP29 SNORD115-1 SNORD116-1 SNRPN SNX10 SON SOX9 SP110 SPATA5 SPEN SPI1 SPINK5 SPOP SPTBN1 SRD5A3 SREBF1 SRP54 SSR4 ST3GAL5 STAG1 STAG2 STAMBP STAR STAT3 STAT4 STAT5B STIL STING1 STRA6 STRADA STT3A STT3B STX1A SUCLA2 SUCLG1 SUGCT SULT2B1 SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TAFAZZIN TALDO1 TAOK1 TASP1 TBC1D24 TBL1XR1 TBL2 TBR1 TBX1 TBX4 TCF3 TCF4 TCIRG1 TCN2 TCOF1 TCTN3 TDGF1 TERT TFAM TFRC TGDS TGFB1 TGFB3 TGIF1 TGM1 TIMM50 TIMMDC1 TINF2 TJP2 TK2 TKFC TLK2 TLL1 TMEM106B TMEM126B TMEM165 TMEM216 TMEM270 TMEM70 TMPRSS15 TNFRSF11B TNFRSF13B TNFRSF13C TNFSF12 TNPO2 TOM1 TOPORS TPI1 TPM2 TPM3 TRAC TRAK1 TRAPPC2 TRIM8 TRIO TRIT1 TRMT10C TRMT5 TSHB TTC26 TTN TWIST2 TWNK TXNRD2 TYMS UBA2 UBA5 UBE3B UBE4B UBR1 UFC1 UFD1 UMPS UNC45A UNC80 UQCC2 USF3 USP7 VAC14 VDR VHL VIPAS39 VPS13B VPS33B VPS37A VPS37D VPS45 VPS51 VPS53 VRK1 WDR11 WDR26 WDR4 WDR62 WNT2B WNT7B WWOX XPA XPC YARS1 YARS2 YWHAG ZAP70 ZEB2 ZFP57 ZIC2 ZIC3 ZMPSTE24 ZNF668 ZNF699 ZNFX1 ZSWIM6 HP_FAILURE_TO_THRIVE_IN_INFANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_IN_INFANCY ABCC6 ABCD1 ATP7A BAZ1B BCL7B BPTF BRAF BUD23 CARS1 CD19 CD81 CD96 CLIP2 COG1 COG4 COG8 COPB2 COX5A CR2 CSF2RA CSF2RB CTNS DEAF1 DNAJC30 DYRK1A ECE1 EDN3 EDNRB EIF4H ELN ENPP1 ERBB2 ERBB3 ERCC1 FDFT1 FGFR1 FIG4 FKBP6 FLII FOXP1 FOXP3 GDNF GTF2I GTF2IRD1 GTF2IRD2 HADHA HADHB HBB HERC2 HPDL HRAS ICOS IL1RN IL2RA IQSEC2 IRF2BP2 ITCH JAK3 KIF15 KRAS LIMK1 LTC4S MAGEL2 MAP2K1 MAP2K2 MCCC1 MCCC2 METTL27 MKRN3 MLXIPL MS4A1 MVK MYOD1 NCF1 NDUFA4 NFKB1 NFKB2 NPAP1 NRTN NSMCE3 OTULIN POLA1 PRKCD PSAT1 PSMB10 PSMD12 PTPN11 PUS3 PWAR1 PWRN1 PYGL RAC2 RAI1 RECQL4 RET RFC2 SCNN1A SCNN1B SCNN1G SEMA3C SEMA3D SETBP1 SETD2 SLC16A2 SLC25A13 SLC30A9 SLC35A2 SLC39A8 SMO SNORD115-1 SNORD116-1 SON SP110 SPOP SREBF1 STX1A TBL2 TGFB3 TK2 TKFC TMEM270 TNFRSF13B TNFRSF13C TNFSF12 TOM1 UNC80 VPS13B VPS37D YARS1 HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS CD247 CD3D CD3E IL7R RAG1 RAG2 HP_FAIR_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAIR_HAIR ABCA2 AP3B1 BLOC1S5 DPP9 IFT140 KANSL1 LPAR6 MOGS PAH PDE4D PIGN RMRP SLC17A5 SLC24A5 SNRPN TAFAZZIN TP63 UBE3A UBR1 HP_FALCIFORM_RETINAL_FOLD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALCIFORM_RETINAL_FOLD CTNNB1 FZD4 LRP5 NDP TSPAN12 ZNF408 HP_FALLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALLS ACBD5 ALDH18A1 ATP13A2 ATP6AP2 CACNA1A CERS1 CHD2 CUX2 DAB1 DMD DNA2 DNM1 FA2H FAR1 FXN GABRB3 GAN GNB2 LRAT MAPK10 MAPT MYH7 NDUFS8 NEFL NKX2-1 OGDH ORAI1 PDE2A POPDC3 PRKAR1B PTS RAPSN SACS SCN1A SDHB SET SLC25A21 SPTBN1 TTN VPS13A HP_FASCICULATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASCICULATIONS ADPRS AGTPBP1 AIFM1 ANO10 ANXA11 AR ASAH1 ATAD1 ATP11A ATP1A2 ATP2A1 ATXN1 ATXN10 ATXN2 ATXN3 BICD2 CACNA1A CCNF CEP126 CHCHD10 CHMP2B COL25A1 COQ6 CPLANE1 CRYAB DCTN1 DENND5A DMD EEF2 EGR2 ELOVL4 ERGIC1 ERLIN1 EXOSC3 EXOSC8 EXOSC9 FBXO38 FUS FXR1 GLA GLRA1 GLRB GPHN GRN HACE1 HEXB HINT1 HNRNPA1 HNRNPA2B1 HSPB1 JAG1 KCNK9 KIF1C LGI3 LRSAM1 LZTR1 MAPT MARS1 MED11 MEGF10 MINPP1 MORC2 MPZ NDUFS4 NEFH NEFL NF2 NOP56 OPTN PFN1 PMP22 PNPLA2 PRPH PRRT2 PRUNE1 PRX PSAP PSEN1 RAB7A RMND1 RYR1 SCN1A SCN4A SCO2 SCYL2 SH3TC2 SLC25A21 SLC25A46 SLC52A2 SLC52A3 SLC6A5 SMARCB1 SMN1 SMN2 SOD1 SPG11 SPTLC1 SQSTM1 SYNE1 SYT2 TARDBP TBCD TBK1 TFG TMEM106B TOE1 TREM2 TSPYL1 TTC19 UBA1 UCHL1 VAPB VCP VPS13D VPS41 VRK1 VWA1 HP_FASTING_HYPERINSULINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPERINSULINEMIA CDKN1B GCK GLUD1 HADH INSR LMNA MEN1 PAPPA2 YY1 HP_FASTING_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPOGLYCEMIA ABCC8 AKT2 FBP1 G6PC1 GCDH GRB10 GYS2 HNF1A HNF4A IARS2 IGF2 INSR KCNJ11 PCK1 PHKA2 PHKB PHKG2 SECISBP2 SLC1A1 SLC25A20 SLC2A2 TBX19 HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES ACTA1 ANG ANXA11 ATXN2 CCNF CFAP410 CHCHD10 CHMP2B COA8 DAO DCTN1 DES DKK1 EPHA4 ERBB4 FIG4 FUS GIPC1 GLE1 GLT8D1 GMPPB HACD1 HNRNPA1 ITGA7 KBTBD13 KLHL41 LPIN1 LRP12 MAP3K20 MATR3 MT-CO1 MT-CO3 MTM1 MYL2 MYPN NEB NEFH NEK1 NGLY1 NOTCH2NLC OBSCN OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH RILPL1 SELENON SOD1 SQSTM1 TAF15 TARDBP TBK1 TPM2 TPM3 TREM2 UBQLN2 UNC13A VAPB VCP HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES ACTA1 CFL2 HINT1 KLHL41 LDB3 LMOD3 NEB TPM2 HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES ACTA1 AGRN AK9 ANG ANXA11 ATXN2 CACNA1S CCNF CFAP410 CFL2 CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DAO DCTN1 DES DOK7 EPHA4 ERBB4 FIG4 FUS GLE1 GLT8D1 HNRNPA1 KCNE3 KLHL41 LMOD3 LRP4 MATR3 MUSK NEB NEFH NEK1 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH RAPSN RNASEH1 RRM2B SCN4A SOD1 SQSTM1 TAF15 TARDBP TBK1 TPM2 TREM2 UBQLN2 UNC13A VAPB VCP HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES ACADM ACTA1 AGRN AK9 ATRX BRAF CASQ1 CDH23 CFL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 FKRP FLNC GMPPB HINT1 KCNK9 KLHL41 LARGE1 LDB3 LMOD3 LRP4 MINPP1 MUSK MYPN NEB NR3C1 ORAI1 POMT1 POMT2 RAPSN SCN4A SLC18A3 STIM1 SYNE1 TFG TOE1 TP53 TPM2 TPM3 USP48 USP8 HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES ANG ANXA11 ATXN2 CCNF CFAP410 CHCHD10 CHMP2B COA8 DAO DCTN1 DKK1 EPHA4 ERBB4 FIG4 FUS GLE1 GLT8D1 HNRNPA1 LPIN1 MATR3 MT-CO1 MT-CO3 MTM1 NEFH NEK1 OBSCN OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH SOD1 SQSTM1 TAF15 TARDBP TBK1 TREM2 UBQLN2 UNC13A VAPB VCP HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES ACTA1 ATRX BRAF CASQ1 CDH23 CFL2 FLNC KCNK9 KLHL41 LMOD3 MYPN NEB NR3C1 ORAI1 STIM1 SYNE1 TFG TP53 TPM2 TPM3 USP48 USP8 HP_FATIGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUE ABCC2 ABCC9 ABCD1 ABL1 ACADM ACTA1 ACTC1 AGK AIP ALAS2 ALB ALDH4A1 ANG ANXA11 AP1S3 AP2S1 ARMC5 ARNT2 ASXL1 ATM ATP13A2 ATP13A3 ATP7A ATRX ATXN2 BCL10 BCL2 BCL6 BCOR BCR BIRC3 BLNK BMP6 BMPR1A BRCA1 BRCA2 BTK BTNL2 C1QBP C4A CALR CARMIL2 CAV3 CBL CCND1 CCNF CCR1 CD244 CD46 CD79A CD79B CDC73 CDH23 CDKN2A CFAP410 CFH CFI CHCHD10 CHMP2B CIITA CITED2 COL1A1 COL1A2 COL5A1 COL5A2 COL9A2 COQ2 CPT1A CTLA4 CTNNB1 DAO DBH DCTN1 DDB2 DLST DMD DNAJC6 DNM1L DNMT3A DYSF EIF2AK4 ELANE EPAS1 EPCAM EPHA4 EPOR ERAP1 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 FAN1 FAS FGF23 FGFR1 FH FIG4 FIP1L1 FOXA2 FOXE1 FOXP1 FTL FUS GATA2 GATA4 GATA5 GATA6 GBA1 GCH1 GCK GFAP GIMAP5 GJA5 GLA GLE1 GLI2 GLT8D1 GPR101 GPR35 GRM1 HACD1 HAVCR2 HBA1 HBA2 HELLPAR HEPHL1 HESX1 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGCL HNF4A HNRNPA1 IFNGR1 IGHG2 IGHM IGKC IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL18BP IL21 IL23R IL36RN IMPDH2 INSR IRF2BP2 IRF4 IRF5 ITGA7 IVNS1ABP JAK2 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNN4 KCNQ1 KIF1B KIF23 KIT KL KLRC4 KPNA3 KRAS LBR LHX3 LHX4 LRIF1 LRRC8A MALT1 MAP3K20 MATR3 MAX MC2R MDH2 MDM4 MEFV MEN1 MET MLH1 MLH3 MLX MMADHC MMEL1 MORC2 MPL MRAP MSH2 MSH6 MST1 MT-TK MYD88 MYH6 MYH7 MYL2 MYL4 NAB2 NABP1 NAGS NAXE NEFH NEK1 NF1 NFKB2 NFKBIL1 NKX2-1 NKX2-5 NKX2-6 NLRC4 NLRP3 NNT NPM1 NPPA NR3C1 NR4A2 NUMA1 NUP155 OPA1 OPTN OTX2 P4HA2 PALB2 PALLD PAX8 PDGFRA PFN1 PGM1 PHIP PHKA2 PHKB PHKG2 PIEZO1 PIGT PIK3CA PIK3CG PIK3R1 PITX2 PLEC PLEKHM1 PML PMS1 PMS2 PNPLA8 PODXL POLG POLG2 POLR3GL POMGNT1 PON1 PON2 PON3 POU1F1 POU2AF1 PPARGC1A PPP2R5D PREPL PRKAR1A PROKR2 PROP1 PRPH PRTN3 PSAP PSTPIP1 PTPN22 PTPN3 PYGM RABL3 RACGAP1 RAPSN RARA RET RHAG RIN2 RPS20 RRM2B RUNX1 RYR1 SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA4A SEMA4D SERPINA6 SH2B3 SIN3A SLC11A1 SLC12A3 SLC18A2 SLC18A3 SLC22A4 SLC25A11 SLC25A26 SLC25A4 SLC26A4 SLC2A10 SLC34A2 SLC39A7 SLC3A1 SLC40A1 SLC4A1 SMAD2 SMAD3 SMAD4 SOD1 SOX2 SOX3 SPI1 SPIB SPTBN1 SQSTM1 SRSF2 STAR STAT1 STAT3 STAT4 STAT5B STAT6 STEAP3 SYNJ1 TAF15 TAFAZZIN TARDBP TBK1 TBL1XR1 TBX19 TBX20 TCF3 TCF4 TET2 TFR2 TGFBR2 THRB TICAM1 TK2 TLL1 TLR3 TLR4 TMEM126B TMEM127 TNFSF15 TNPO3 TNXB TP53 TPM2 TPM3 TRAF3 TREM2 TRHR TRIO TSC1 TSC2 TSHB TSHR TTN TWNK TXNRD2 UBA1 UBAC2 UBQLN2 UNC13A UNC45B UNC93B1 VAPB VCP VHL WAS WIPF1 XPA XPC YY1 ZBTB16 HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE ANO5 ANXA11 CACNA1S CAPN3 CFL2 CRPPA DNAJB6 FKRP FKTN FLAD1 FLNC FXR1 GIPC1 GNE HNRNPA1 HNRNPA2B1 ITGA7 LMOD3 MEGF10 MYH14 MYOT NEB PMP2 PNPLA2 POGLUT1 POMT1 POPDC3 RILPL1 SECISBP2 SMPX STAC3 TNNC2 TTN VCP HP_FEEDING_DIFFICULTIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES AARS1 AARS2 AASS ABAT ABCC6 ABCC8 ABCD1 ABCD4 ACADS ACADVL ACSF3 ACTA1 ACTB ACTG1 ACTL6B ACTN2 ACY1 ADA2 ADAMTS3 ADAR ADARB1 ADAT3 ADCY6 ADGRG1 ADNP AFF4 AGO1 AGO2 AGRN AGTPBP1 AHDC1 AHI1 AIFM1 AIMP2 ALDH18A1 ALDH4A1 ALDH6A1 ALDH7A1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALS2 ANAPC1 ANK1 ANKRD11 ANKRD17 ANO1 ANTXR2 AP1S2 AP3B2 AP3D1 APC2 AQP2 ARCN1 ARHGAP29 ARHGEF38 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARSA ARSL ARV1 ARVCF ARX ASAH1 ASH1L ASL ASNS ASPA ASXL1 ASXL2 ASXL3 ATAD3A ATG7 ATP10A ATP1A2 ATP1A3 ATP5F1A ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATPAF2 ATRX ATXN7 AUTS2 AVPR2 B3GALT6 B3GLCT B9D1 B9D2 BAP1 BCKDHA BCKDHB BCL11B BCOR BCS1L BICD2 BICRA BIN1 BLM BMP4 BPTF BRAF BRAT1 BRD4 BRPF1 BSND BTD BUB1B C2CD3 CA12 CACNA1A CACNA1B CACNA1I CACNA1S CACNA2D1 CAMK2B CAMLG CAMSAP1 CARS1 CARS2 CASK CASR CASZ1 CAV1 CAVIN1 CBL CBY1 CC2D2A CCDC22 CCDC32 CCDC47 CCDC88A CDC42BPB CDC45 CDC6 CDH1 CDK13 CDK19 CDK8 CDKL5 CDKN1C CDON CDT1 CELF2 CENPT CEP104 CEP120 CEP41 CFL2 CHAMP1 CHAT CHD3 CHD7 CHD8 CHKA CHMP1A CHRNA1 CHRNB1 CHRND CHRNE CISD2 CLCF1 CLCN3 CLCN4 CLCN6 CLCNKA CLCNKB CLDN16 CLEC7A CLN8 CLP1 CLPB CLTC CLTCL1 CNKSR2 CNOT2 CNOT3 CNP CNTN1 CNTNAP2 COBLL1 COG1 COG4 COG5 COG7 COL13A1 COL1A1 COL25A1 COL2A1 COL4A5 COL4A6 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLQ COMT COQ7 COQ9 COX10 COX11 COX15 COX16 COX6B1 COX7B COX8A CPLANE1 CPLX1 CPSF3 CPT1A CPT2 CREBBP CRLF1 CRLS1 CSNK2A1 CSPP1 CTBP1 CTCF CTNNB1 CTNS CUL3 CWC27 CYFIP2 CYP11A1 CYP11B2 DALRD3 DBT DCHS1 DCX DDC DDX3X DDX59 DDX6 DEAF1 DEF6 DEGS1 DGUOK DHCR24 DHCR7 DHDDS DHFR DHX30 DISP1 DLAT DLD DLEC1 DLG1 DLK1 DLL1 DLX4 DMPK DNAJC21 DNM1 DNM1L DOHH DPAGT1 DPF2 DPH5 DPM1 DPM2 DPP9 DPYD DPYS DPYSL5 DST DTYMK DUOX2 DUOXA2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A DZIP1L EARS2 ECHS1 EDEM3 EDN1 EED EEF1A2 EFTUD2 EHMT1 EIF4A3 EIF5A ELN ELP1 EMG1 EN1 ENPP1 EP300 EPB41L1 EPG5 EPM2A EPRS1 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 ERGIC1 ETHE1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT2 EZH2 FAM149B1 FANCL FARS2 FARSA FARSB FAT4 FBLN5 FBN1 FBP2 FBXO28 FBXW7 FCSK FDFT1 FGF10 FGF12 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FIG4 FKBP14 FKRP FKTN FLAD1 FLCN FLI1 FLII FLNA FOCAD FOXE1 FOXG1 FOXH1 FOXP1 FOXP2 FOXP3 FOXRED1 FRA10AC1 FRMD5 FUS FUT8 FZD2 FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GALK1 GALNT2 GALT GAS1 GATA6 GATAD2B GBA1 GCDH GEMIN4 GET3 GFM1 GFM2 GFPT1 GGPS1 GLB1 GLE1 GLI2 GLRA2 GLRX5 GMNN GMPPA GMPPB GNAI1 GNAI3 GNB1 GNB2 GNPTAB GNS GOSR2 GOT2 GP1BB GPHN GPT2 GRB10 GRHL3 GRIA1 GRIA4 GRIN1 GRIN2B GRIN2D GRM7 GSC GSX2 GTF2H5 GTPBP3 GUF1 H1-4 H19 H4C3 H4C5 H4C9 HACD1 HADH HADHA HADHB HBB HCCS HCN1 HDAC4 HDAC8 HECW2 HERC2 HESX1 HIBCH HIKESHI HIRA HIVEP2 HK1 HLCS HMGA2 HNF1A HNF1B HNRNPH1 HNRNPH2 HNRNPK HNRNPR HOXB1 HPCA HRAS HS2ST1 HS6ST2 HSD17B4 HSPD1 HSPG2 HTRA2 HTT HYLS1 IARS1 IBA57 IDH1 IDUA IER3IP1 IFIH1 IFT140 IFT172 IFT74 IFT80 IGF2 IKBKG IL17F IL17RA IL17RC IL6ST INPP5E IPO8 IQSEC2 IREB2 IRF6 ISCA1 ITCH ITGA7 ITPA IYD JMJD1C KANSL1 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNA2 KCNAB2 KCNB1 KCNC2 KCNJ11 KCNK4 KCNK9 KCNQ2 KCNQ5 KDM1A KDM3B KDM5B KDM6A KIAA0586 KIAA0753 KIF15 KIF1A KIF5A KIF7 KLHL40 KLHL41 KLHL7 KMT2A KMT2B KMT2D KMT2E KMT5B KNSTRN KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAGE3 LAMA2 LAMB2 LARGE1 LBX1 LHX1 LHX3 LHX4 LIAS LIFR LINGO1 LIPT2 LMBRD1 LMNA LMNB1 LMOD3 LONP1 LRP4 LRP5 LRPPRC LTBP1 LTBP4 LUZP1 LYRM4 LZTR1 MACF1 MAGEL2 MAMLD1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MARS1 MARS2 MBD5 MBTPS2 MCCC1 MCCC2 MDH2 MECP2 MECR MED12 MED12L MED17 MED23 MED27 MEF2C MEG3 MEIS2 MFF MGAT2 MICOS13 MID1 MIPEP MKRN3 MKS1 MLXIPL MMAA MMAB MMACHC MMP23B MMUT MN1 MOCS1 MOCS2 MOGS MPDU1 MRAS MRPL3 MRPS16 MRPS34 MSL3 MSX1 MT-ND1 MT-ND2 MT-ND3 MT-TE MT-TL1 MTHFR MTHFS MTM1 MTO1 MTOR MTR MTRFR MTRR MYH3 MYH8 MYL1 MYL2 MYMK MYO1H MYO9A MYPN NAA10 NAA15 NAA20 NACC1 NADK2 NAGS NALCN NAPB NARS2 NCAPG2 NDE1 NDN NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NECTIN1 NEDD4L NEPRO NEXMIF NFASC NFE2L2 NFIX NFKBIA NFU1 NHLRC1 NHLRC2 NIPBL NKX2-1 NKX2-5 NLRC4 NODAL NONO NOVA2 NPAP1 NPHP1 NR2F1 NR3C2 NR4A2 NRAS NRCAM NRXN1 NSD1 NSD2 NSMCE3 NTNG1 NTRK1 NTRK2 NUBPL NUDT2 NUP214 NUS1 OCA2 OCRL ODC1 OFD1 OPA1 ORC1 ORC4 ORC6 OTUD5 OTUD6B OTX2 PACS1 PACS2 PAFAH1B1 PANK2 PARS2 PAX2 PAX8 PBX1 PCCA PCCB PCGF2 PDE10A PDE6D PDGFRA PDHA1 PDP1 PDPN PDSS2 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PHF6 PHGDH PHIP PHOX2B PI4KA PIBF1 PIEZO2 PIGB PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGU PIGV PIGW PIGY PIK3CD PKHD1 PLA2G6 PLAA PLAG1 PLCB4 PLCH1 PLP1 PLPBP PLVAP PLXND1 PMM2 PMPCB PNPO PNPT1 POGZ POLA1 POLE POLR1B POLR2A POLR3A POLR3K POMK POMT1 POMT2 POT1 POU1F1 PPFIBP1 PPM1D PPP1CB PPP1R21 PPP2CA PPP2R1A PPP3CA PQBP1 PRDM16 PRDX1 PREPL PRIM1 PRKAG2 PRKCSH PRKCZ PRKD1 PRKG2 PRMT7 PROP1 PRORP PRPS1 PRUNE1 PSAP PSAT1 PSMC1 PSMD12 PSPH PTCD3 PTCH1 PTPN11 PTPN23 PTS PUF60 PURA PWAR1 PWRN1 PYCR2 QRICH1 RAB11B RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAF1 RAI1 RALGAPA1 RAPSN RARS1 RARS2 RASA2 RECQL4 RELN RERE RETREG1 REV3L RFT1 RHBDF2 RIC1 RIT1 RLIM RMND1 RNASEH1 RNASEH2A RNF13 RNF2 RNF6 RNU4ATAC RNU7-1 RPGRIP1L RPL10 RPS28 RPS6KA3 RRAS RRAS2 RREB1 RRM2B RTL1 RYR1 SAMHD1 SARS2 SATB2 SCN1A SCN3A SCN4A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC63 SELENON SEMA3E SEPSECS SERAC1 SET SETBP1 SETD1A SETD2 SETD5 SH2B1 SH3BP2 SHANK3 SHH SHOC2 SHQ1 SIGMAR1 SIK1 SIK3 SIM1 SIN3A SIX3 SKI SLC12A2 SLC12A6 SLC13A5 SLC16A1 SLC16A2 SLC18A3 SLC1A2 SLC1A4 SLC25A1 SLC25A15 SLC25A19 SLC25A22 SLC25A24 SLC25A46 SLC26A4 SLC30A9 SLC35A2 SLC35B2 SLC38A3 SLC46A1 SLC52A1 SLC5A5 SLC5A6 SLC5A7 SLC6A3 SLC6A8 SLC7A7 SLC9A6 SLF2 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD1 SNAP25 SNIP1 SNORD115-1 SNORD116-1 SNRPB SNRPN SNX10 SON SOS1 SOS2 SOX11 SOX4 SOX5 SOX9 SPATA5 SPEN SPG11 SPOP SPRED2 SPTBN1 SPTBN4 SPTLC1 SRCAP SRP54 SRPX2 SSR4 ST3GAL5 STAC3 STAG1 STAG2 STIL STRADA STT3A STT3B STX3 SUCLA2 SUCLG1 SUFU SUPT16H SUZ12 SYNE1 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TALDO1 TANGO2 TAOK1 TASP1 TBC1D20 TBC1D24 TBCD TBCK TBL1XR1 TBX1 TCEAL1 TCF20 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TELO2 TET3 TFG TG TGFB1 TGFBR2 TGIF1 TH THOC2 TIMM22 TIMMDC1 TK2 TLK2 TMCO1 TMEM106B TMEM126B TMEM216 TMEM218 TMEM237 TMEM67 TNNT1 TNPO2 TOE1 TOGARAM1 TOM1 TOP3A TOPORS TOR1A TP53RK TP63 TPM2 TPM3 TPO TPR TRAF3IP2 TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC4 TREX1 TRIO TRIP4 TRMT10C TRMT5 TRMU TRPV6 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHB TSHR TSPOAP1 TSPYL1 TTC21B TUBB3 TUBB6 TXN2 TXNL4A UBA1 UBA2 UBA5 UBB UBE3A UBE3B UBE3C UBE4B UBTF UCP2 UFC1 UFD1 UFM1 UGDH UGP2 UNC45B UNC80 UQCC3 UQCRC2 UQCRFS1 USP7 USP9X VAMP1 VPS13B VPS35L VPS4A VPS50 VPS51 VRK1 WAC WARS2 WASF1 WASHC5 WDPCP WDR19 WDR26 WDR73 WFS1 WNK1 WWOX YARS1 YIF1B YWHAG YY1 ZBTB18 ZBTB7A ZC4H2 ZIC2 ZMIZ1 ZMYM2 ZNF148 ZNF292 ZNF462 ZNF668 ZNF699 ZNHIT3 ZSWIM6 HP_FEEDING_DIFFICULTIES_IN_INFANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES_IN_INFANCY AASS ACTA1 ACTL6B ACTN2 ADNP AFF4 AGRN AHI1 AIFM1 ALG12 ALG14 ALS2 AQP2 ARHGAP29 ARHGEF38 ARID1A ARID1B ARL13B ARL3 ARMC9 ARSA ARV1 ARVCF ARX ASL ASPA ASXL1 ASXL2 ASXL3 ATAD3A ATP10A ATP6V0A1 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATRX AUTS2 AVPR2 B3GALT6 B3GLCT B9D1 B9D2 BCKDHA BCKDHB BCOR BCS1L BIN1 BLM BMP4 BRAF BRD4 BTD BUB1B C2CD3 CAMLG CARS1 CASK CASR CASZ1 CBL CBY1 CC2D2A CCDC22 CCDC32 CDH1 CDK8 CDKN1C CDON CEP104 CEP120 CEP41 CHAT CHD7 CHD8 CHRNA1 CHRNB1 CHRND CHRNE CISD2 CLCN6 CLDN16 CLEC7A CLN8 CLTCL1 CNOT2 CNOT3 CNTN1 COBLL1 COG1 COG5 COL13A1 COL1A1 COL2A1 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COMT COX10 COX16 COX8A CPLANE1 CPT2 CREBBP CRLF1 CSPP1 CTCF CYP11B2 DALRD3 DBT DCHS1 DCX DDC DDX3X DEAF1 DEGS1 DGUOK DHCR7 DISP1 DLEC1 DLG1 DLK1 DLL1 DLX4 DMPK DNM1L DPM1 DPYD DPYS DPYSL5 DST DUOX2 DUOXA2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A ECHS1 EDEM3 EED EFTUD2 EIF5A ELN ELP1 EMG1 EN1 EP300 EPB41L1 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 EZH2 FAM149B1 FARS2 FARSA FAT4 FBN1 FDFT1 FGF8 FGFR1 FGFR2 FKRP FKTN FLCN FLI1 FLII FLNA FOXG1 FOXH1 FOXP1 FOXP2 FUS GAA GABRD GALC GAS1 GFM2 GGPS1 GLI2 GLRA2 GNB2 GNPTAB GOT2 GP1BB GPT2 GRB10 GRHL3 GRM7 GSX2 GTPBP3 H19 HACD1 HADH HADHA HADHB HDAC8 HERC2 HESX1 HIRA HLCS HMGA2 HNRNPK HRAS HSD17B4 HSPD1 HSPG2 HTRA2 HYLS1 IDH1 IFT140 IFT172 IFT74 IFT80 IGF2 IKBKG IL17F IL17RA IL17RC IL6ST INPP5E IQSEC2 IRF6 ITCH ITGA7 IYD JMJD1C KANSL1 KAT8 KATNIP KCNAB2 KCNK9 KDM3B KDM6A KIAA0586 KIAA0753 KIF15 KIF1A KIF5A KIF7 KLHL40 KMT2D KMT5B KRAS KRT14 KRT5 LAMA2 LAMB2 LARGE1 LHX3 LHX4 LIFR LONP1 LRP5 LRPPRC LUZP1 LYRM4 LZTR1 MAGEL2 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MCCC1 MECP2 MED12L MEG3 MGAT2 MID1 MKRN3 MKS1 MLXIPL MMAA MMAB MMACHC MMP23B MOCS1 MOGS MRAS MRPS16 MSX1 MT-TE MT-TL1 MTHFR MTM1 MTR MTRFR MYH3 MYL2 MYO1H MYO9A NAA20 NACC1 NADK2 NALCN NAPB NDN NDUFAF8 NDUFS4 NDUFS8 NECTIN1 NFIX NFKBIA NIPBL NLRC4 NODAL NONO NPAP1 NRAS NRCAM NSD1 NUDT2 NUP214 OCA2 OCRL ODC1 OFD1 OPA1 ORC1 OTUD5 PANK2 PARS2 PAX8 PCCA PCCB PCGF2 PDE10A PDE6D PDGFRA PDHA1 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PHF6 PHIP PIBF1 PIEZO2 PIGL PIGN PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PLAA PLAG1 PLCH1 PLXND1 PMM2 PNPO PNPT1 POGZ POLR1B POLR3K POMT1 POMT2 POU1F1 PPP1CB PPP1R21 PPP2R1A PQBP1 PRDM16 PRDX1 PRKCSH PRKCZ PROP1 PRPS1 PRUNE1 PSAP PSAT1 PTCH1 PTPN11 PTPN23 PTS PUF60 PURA PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAF1 RAI1 RALGAPA1 RAPSN RARS2 RASA2 RERE RETREG1 REV3L RHBDF2 RIC1 RIT1 RNF13 RNF2 RNF6 RPGRIP1L RPL10 RPS6KA3 RRAS RRAS2 RREB1 RTL1 RYR1 SAMHD1 SATB2 SCN1A SCN3A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC63 SELENON SEMA3E SEPSECS SETBP1 SH3BP2 SHH SIGMAR1 SIK1 SIM1 SIN3A SIX3 SKI SLC16A2 SLC18A3 SLC1A4 SLC25A1 SLC25A19 SLC25A22 SLC46A1 SLC52A1 SLC5A5 SLC5A6 SLC5A7 SLC6A8 SLC9A6 SMARCB1 SMARCC2 SMARCD1 SMC1A SMC3 SMPD1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SON SOS1 SOS2 SOX11 SPATA5 SPEN SPG11 SPOP SPRED2 SPTBN1 SPTBN4 SPTLC1 SRP54 ST3GAL5 STAG2 STIL SUCLA2 SUFU SUPT16H SUZ12 SYNE1 SYNGAP1 SYT2 TALDO1 TANGO2 TBC1D20 TBC1D24 TBCK TBX1 TCEAL1 TCTN1 TCTN2 TCTN3 TDGF1 TET3 TFG TG TGFB1 TGFBR2 TGIF1 TIMM22 TIMMDC1 TK2 TMEM216 TMEM218 TMEM237 TMEM67 TOGARAM1 TOP3A TOPORS TOR1A TP63 TPM2 TPM3 TPO TRAF3IP2 TRAPPC12 TRAPPC4 TREX1 TRIO TRIP4 TRMT10C TRMU TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHB TSHR TSPYL1 TTC21B TUBB3 TUBB6 TXN2 TXNL4A UBA1 UBB UBE3A UBE3B UBE4B UBTF UFD1 UGDH UGP2 UNC45B UNC80 UQCRC2 UQCRFS1 USP7 VAMP1 VPS13B VPS35L VRK1 WASHC5 WDR19 WDR26 WFS1 WNK1 WWOX YIF1B YY1 ZIC2 ZMIZ1 ZNF699 ZNHIT3 HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE AR CYB5A CYP11A1 CYP17A1 DHX37 DMRT3 GATA4 HSD17B3 HSD3B2 MAP3K1 NR0B1 NR5A1 SOX9 SRY VAMP7 WT1 WWOX ZFPM2 HP_FEMALE_HYPOGONADISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_HYPOGONADISM AIP AIRE ATM BMP4 CDH23 CHD7 DUSP6 FGF17 FGF8 FGFR1 FSHB GNRH1 GNRHR HS6ST1 KISS1 KISS1R LMNA MEN1 NHLH2 NSMF PRLR PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11 ZMPSTE24 HP_FEMALE_INFERTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_INFERTILITY ASTL BTG4 C11orf80 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDC20 CFAP221 CFAP298 CFAP300 CFAP74 CYP19A1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FBXO43 FIGLA FOXJ1 FOXL2 GAS2L2 GAS8 GGPS1 HSF2BP HYDIN KPNA7 LRRC56 MCIDAS MEI1 MOS MSH4 MSH5 NEK10 NLRP2 NLRP5 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PANX1 PATL2 PGR POF1B PRLR PSMC3IP REC114 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TLE6 TRIP13 TTC12 TUBB8 WEE2 ZFP36L2 ZMYND10 ZP1 ZP2 ZP3 HP_FEMALE_PSEUDOHERMAPHRODITISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_PSEUDOHERMAPHRODITISM CD96 CYP19A1 FRAS1 FREM2 GRIP1 NR3C1 SPECC1L HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM AKT1 APC AURKA AXIN2 BAX BMPR1A BRAF BUB1 BUB1B BUB3 CCND1 CDC73 CDH1 CEP57 CHEK2 COL4A5 COL4A6 COQ6 CTNNB1 DCC DLC1 DOCK8 EP300 EPCAM FGFR3 FH FLCN FLI1 GREM1 KLLN LZTR1 MCC MLH1 MLH3 MSH2 MSH3 MSH6 NAB2 NF2 NRAS NTHL1 PDGFRL PIK3CA PLA2G2A PMS2 POLD1 POLE PTEN PTPN12 PTPRJ RAD54B RPS20 SDHB SDHC SDHD SEC23B SEMA4A SLC6A17 SMARCB1 SRC STAT6 STK11 TLR2 TP53 TRIP13 USF3 HP_FEMALE_SEXUAL_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_SEXUAL_DYSFUNCTION ABCD1 AIP ANOS1 CAV1 CCDC141 CCN2 CCR6 CDH23 CHD7 CLEC7A COQ2 DCC DNAJC6 DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FSHB FZD2 GNRH1 GNRHR HESX1 HLA-B HLA-DRB1 HS6ST1 HTRA2 IKZF1 IL17F IL17RA IL17RC IL17RD IRF5 KISS1 KISS1R LRRK2 MEN1 NDNF NHLH2 NSMF PARK7 PINK1 PODXL PRKN PROK2 PROKR2 RTN2 SEMA3A SNCA SOX10 SPRY4 SYNJ1 TAC3 TACR3 TRAF3IP2 UBAP1 UCHL1 VPS13C WDR11 HP_FEMORAL_BOWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_BOWING BHLHA9 BMP1 CLCN5 COL10A1 COL11A1 COL1A1 COL1A2 CYP27B1 CYP2R1 DMP1 DYM DYNC2H1 DYNC2I1 ENPP1 FGFR2 FGFR3 FLNA GDF5 GORAB LAMA5 LBR LIFR MAN2B1 MATN3 MMP13 NEK8 NEK9 NEPRO P3H1 PCYT1A PHEX PLOD2 POLR1A POR PRKG2 RBM8A RMRP RNU4ATAC RSPRY1 SCARF2 SGMS2 SLC34A3 SOX9 TENT5A TMEM38B TNFRSF11A TNFRSF11B TRPV6 VDR WNT7A HP_FEMORAL_HERNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_HERNIA ADAMTS2 ADAMTSL2 ATP7A CAMSAP1 COL1A1 COL1A2 DIS3L2 DVL1 DVL3 EHMT1 FANCB FZD2 PTDSS1 SLC26A2 SLC2A10 SMAD4 TBX1 TRIP11 WNT5A HP_FEMUR_FRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMUR_FRACTURE BICD2 LEMD2 TCIRG1 TNFRSF11A XYLT2 HP_FETAL_AKINESIA_SEQUENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_AKINESIA_SEQUENCE ACTA1 ATP1A2 CHRNA1 CHRND CHRNG CNTN1 CNTNAP1 DOK7 DPAGT1 GBA1 GLE1 KBTBD13 KIF21A KIF5C KLHL40 KLHL41 LGI4 MAGEL2 MUSK MYOD1 MYPN NEB NEK9 NUP88 PHGDH PIGS RAPSN RYR1 SLC18A3 TPM2 TPM3 TRPV4 TUBA1A ZC4H2 HP_FETAL_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ANOMALY AARS1 ABCB4 ABCC6 ABCD4 ACTA1 ACTL6B ADA ADA2 ADAMTS3 ADARB1 ADCY6 ADGRG6 AFF2 AGGF1 AGRN AHCY ALDH7A1 ALG1 ALG14 ALG8 ALG9 ALPK3 AP1S2 AP3B2 ARSL ARV1 ASAH1 ASCC1 ASCL1 ASNS ASXL2 ATAD3A ATN1 ATP1A2 ATP1A3 ATP6V1A ATP6V1B2 ATP8B1 B3GLCT B9D1 BAZ1B BCL7B BICD2 BIN1 BMPER BNC2 BRD4 BSND BUB1 BUB1B BUB3 BUD23 CACNA1A CACNA1B CACNA1C CACNA2D1 CALCRL CAMK2B CAMKMT CARS2 CASP10 CBL CCBE1 CCDC174 CCDC22 CCDC47 CDAN1 CDC42BPB CDK19 CELF2 CEP57 CHAT CHD7 CHMP2B CHRNA1 CHRND CHRNE CHRNG CHUK CLCN3 CLIP2 CLPB CLTC CNKSR2 CNTN1 CNTNAP1 COL11A1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL6A1 COL6A2 COL6A3 COX11 COX15 CPLX1 CPSF3 CRB2 CRLS1 CRPPA CSGALNACT1 CTBP1 CTCF CTSA CYFIP2 DALRD3 DCLRE1C DDX6 DEAF1 DHCR7 DHDDS DHPS DMPK DNA2 DNAJC30 DNM1 DNM1L DNM2 DNMT3A DOCK6 DOHH DOK7 DPAGT1 DPF2 DPH5 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP EEF1A2 EFNB1 EIF4H EIF5A ELN EMC10 ENPP1 EPB41 EPHB4 ERBB3 ERCC5 ERGIC1 EXOSC9 FANCB FANCF FAS FASLG FAT4 FBXO28 FGF12 FGF13 FGFR3 FGFRL1 FH FIG4 FKBP14 FKBP6 FLII FLNB FLT4 FOXC2 FOXF1 FOXRED1 FXR1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GATA1 GATA6 GATB GATC GBA1 GBE1 GFPT1 GGPS1 GLB1 GLDN GLE1 GLRB GMPPB GNB2 GOSR2 GPC6 GPKOW GRIN2D GRIP1 GRN GTF2I GTF2IRD1 GTF2IRD2 GUSB GYPC H19 H4C3 HACD1 HADHA HBA1 HBA2 HCN1 HDAC8 HEATR3 HERC2 HLCS HNRNPK HOXD13 HRAS HSD17B4 HSPG2 IFT80 IGF2 IGHMBP2 IKZF1 IL1RN IL2RB IL2RG IL7R IPO8 IQSEC2 ITGA7 KANSL1 KBTBD13 KCNA2 KCNB1 KCNQ5 KIAA0586 KIF20A KIF21A KIF26A KIF5C KLF1 KLHL40 KLHL41 KMT2D KRAS LAMA5 LARS2 LBR LETM1 LGI4 LIG4 LIMK1 LMNA LMOD3 LRPPRC LZTR1 MAGEL2 MAP3K20 MAP3K7 MAPT MCM10 MCTP2 MDFIC MECOM MEGF10 METTL27 MGAT2 MKRN3 MKS1 MLXIPL MMACHC MPZ MRAS MRPS16 MRPS22 MT-ND1 MT-ND2 MT-ND3 MTM1 MTMR14 MUSK MYCN MYF6 MYH3 MYH7 MYL1 MYL11 MYL2 MYL9 MYMK MYO9A MYOD1 MYPN NAA10 NAA20 NALCN NCF1 NDN NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEK1 NEK9 NELFA NEU1 NEXMIF NFASC NIPBL NPAP1 NPC1 NPC2 NR1H4 NRAS NSD1 NSD2 NSF NTRK2 NUBPL NUP188 NUP88 NUS1 OCA2 ODC1 OSTM1 PACS1 PACS2 PAK2 PARS2 PAX7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHGDH PHOX2B PI4KA PIEZO1 PIGA PIGG PIGL PIGN PIGO PIGS PIGV PIGW PIGY PKLR PLD1 PLOD1 PLPBP PMM2 POLR2A POR PPM1B PPP3CA PREPL PRKCD PRUNE1 PSAT1 PSEN1 PTH1R PTPN11 PTRH2 PWAR1 PWRN1 QRICH1 QRSL1 RAC1 RAD21 RAF1 RAG1 RAG2 RAI1 RAPSN RASA1 RASA2 RASGRP1 RET RFC2 RHD RIPK4 RIT1 RMRP RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RYR1 RYR3 SCARF2 SCN3A SCN4A SCN5A SCN8A SCYL2 SELENON SHQ1 SLC13A5 SLC16A2 SLC17A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A26 SLC26A2 SLC27A4 SLC2A1 SLC30A9 SLC31A1 SLC35A2 SLC35D1 SLC38A3 SLC3A1 SLC5A7 SLC6A9 SMC1A SMC3 SMN1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SON SOS1 SOS2 SOX10 SOX18 SPECC1L SPEN SPRED2 SPTA1 SPTB SQSTM1 STAG1 STX1A SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TALDO1 TAPT1 TBC1D24 TBCK TBL2 TCF4 TGM1 THSD1 TIMMDC1 TLK2 TMCO1 TMEM106B TMEM126B TMEM270 TNNC2 TOR1A TPM2 TPM3 TRAF7 TRAIP TRAK1 TREM2 TRIM37 TRIP11 TRIP13 TRIP4 TRPV4 TSFM TSR2 TTC26 TTC7A TUBA1A TWIST2 TXNDC15 UBA1 UBA5 UNC45B UQCRFS1 UROD UROS USP18 USP7 VAC14 VAMP1 VCP VPS13B VPS35L VPS37D WASHC5 WDR35 WDR62 WNT3 WNT4 WNT7A WT1 WWOX YWHAG ZBTB18 ZBTB42 ZC4H2 ZIC3 ZMPSTE24 ZNF699 HP_FETAL_ASCITES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ASCITES EIF5A GNB2 HSD17B4 MDFIC NPC1 NPC2 PTH1R RHD HP_FETAL_DISTRESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_DISTRESS ABCB4 ABCC6 ABCD4 AFF2 ALDH7A1 AP1S2 ATAD3A ATP8B1 BUB1 CAMK2B COX11 CTCF DNMT3A EMC10 ENPP1 EXOSC9 FOXRED1 GOSR2 IKZF1 IL1RN IPO8 KCNQ5 LMNA LRPPRC MT-ND1 MT-ND2 MT-ND3 NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL OSTM1 PEX2 PIGA PLPBP RPL11 SLC2A1 SLC6A9 SON SPEN TIMMDC1 TMEM126B TTC26 USP18 HP_FETAL_NECK_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_NECK_ANOMALY ABCC6 ADARB1 ALG9 ARSL ATN1 ATP6V1B2 BAZ1B BCL7B BMPER BRD4 BUB1 BUB1B BUB3 BUD23 CBL CEP57 CHMP2B CLIP2 CSGALNACT1 DHCR7 DHPS DNAJC30 DOHH EBP EFNB1 EIF4H ELN ENPP1 EPHB4 FGFR3 FIG4 FKBP6 FOXF1 GATA1 GPC6 GRN GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HNRNPK HRAS KRAS LAMA5 LBR LIMK1 LRPPRC LZTR1 MAPT METTL27 MLXIPL MRAS MUSK MYL11 NCF1 NIPBL NRAS ODC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGN PSAT1 PSEN1 PTPN11 RAD21 RAF1 RASA2 RFC2 RIT1 RNU4ATAC RRAS RRAS2 SLC26A2 SLC31A1 SLC35A2 SMC1A SMC3 SOS1 SOS2 SPRED2 SQSTM1 STAG1 STX1A TBC1D24 TBL2 TCF4 TMEM106B TMEM270 TRAF7 TREM2 TRIP11 TRIP13 TXNDC15 VAC14 VCP VPS37D HP_FETAL_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ONSET ACTA1 ACTG2 ADCY6 ADGRG6 ALG1 ALG8 ALPK3 ALX4 ASNS ATP1A2 B4GAT1 B9D1 B9D2 BICD2 BMPER CALM2 CC2D2A CCDC134 CCDC88C CDC42BPB CENPE CHD7 CHRNG CHUK CLPB CNTNAP1 COASY COL2A1 COX16 CPSF3 CPT2 CRB2 CREB3L1 CRLS1 DCC DEF6 DLL3 DYNC2LI1 ERCC5 ERCC8 EXOC7 EXOSC9 EZH2 FANCB FARSA FARSB FGFR3 FH FKBP14 FTO FZR1 GBA1 GFRA1 GINS1 GLDN GNPTAB GRIP1 GUSB HERC2 IARS1 IFIH1 IL6ST KDELR2 KDM6A KIAA0753 KIDINS220 KIF14 KIF20A KIF5C KIF7 KLF1 KMT2B KMT2D L1CAM LBR LGI4 LMNA LMOD1 MAGEL2 MAP3K7 MCM10 MDFIC MEGF10 MESP2 MKRN3 MKS1 MPDZ MRPS22 MYH11 MYRF NADK2 NDUFB11 NDUFB7 NEK8 NPAP1 NSD1 NSD2 NUP155 NUP88 OBSL1 P3H1 PAICS PDX1 PI4KA PIGA PIGG PLCH1 PLEC PLG PLOD3 PLXND1 POMK PPP1CB PPP3CA PRIM1 PRKAG2 PRRX1 PSMD12 PWAR1 PWRN1 PYCR1 RAC1 RAD21 RECQL4 RIPK4 RMRP RNF2 ROBO1 RPL10 RPL26 RYR1 SCN4A SCN5A SDHA SDHD SERPINH1 SHQ1 SIN3A SKIC2 SLC12A1 SLC25A19 SLC30A9 SLC35A3 SLC35D1 SNAP25 SNORD115-1 SNORD116-1 SOS1 SOX10 SOX18 STRA6 STT3B SYNE1 SYT2 TAF2 TBX18 TBXT TCTN3 THSD1 TMEM216 TNFRSF11A TNNT2 TOGARAM1 TPM1 TRAIP TRIP11 TRPV6 TWIST2 TXNDC15 UBR1 USP18 VRK1 WDR19 WDR4 WNT3 WT1 XYLT1 ZIC2 ZIC3 ZMPSTE24 ZNF526 HP_FETAL_PERICARDIAL_EFFUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PERICARDIAL_EFFUSION CRB2 HNRNPK LARS2 MDFIC RHD THSD1 HP_FETAL_PLEURAL_EFFUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PLEURAL_EFFUSION CRLS1 MDFIC NUP88 RHD THSD1 HP_FETAL_POLYURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_POLYURIA BSND CLCNKA CLCNKB FGF20 GFRA1 GREB1L ITGA8 KCNJ1 MAGED2 RET SLC12A1 WNT9B HP_FETAL_PYELECTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PYELECTASIS BNC2 CDC42BPB CLCN3 FGF13 FH KANSL1 MYL9 PI4KA PIGA TBCK ZBTB18 HP_FETAL_ULTRASOUND_SOFT_MARKER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ULTRASOUND_SOFT_MARKER ABCC6 ADGRG6 ALG9 ASXL2 ATP6V1B2 BNC2 CACNA1C CBL CCDC22 CDC42BPB CHMP2B CLCN3 DDX6 DPF2 DPYSL5 EBP EFNB1 ENPP1 FANCB FANCF FAT4 FGF13 FH FOXF1 GATA1 GATA6 GNB2 GRN HNRNPK HOXD13 HRAS HSPG2 KANSL1 KIF26A KMT2D KRAS LAMA5 LBR LRPPRC LZTR1 MAPT MCTP2 MKS1 MRAS MRPS16 MYH7 MYL9 NRAS NUP88 PACS1 PAK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PI4KA PIGA PIGL PIGN PIGO PIGV PIGW PIGY POR PSAT1 PSEN1 PTPN11 QRICH1 RAC1 RAF1 RASA2 RIT1 RNU4ATAC RRAS RRAS2 RYR3 SCARF2 SLC26A2 SLC30A9 SLC31A1 SLC35A2 SOS1 SOS2 SPECC1L SPRED2 SQSTM1 STAG1 TAPT1 TBC1D24 TBCK THSD1 TLK2 TMEM106B TRAF7 TREM2 TRIP11 TWIST2 VCP VPS35L WASHC5 WNT3 WT1 ZBTB18 ZBTB42 ZIC3 ZNF699 HP_FEVER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEVER ABCC2 ABCC6 ABL1 ACAT1 ACTN4 ADA ADA2 ADAMTS13 ADAR AK2 ALDOA ALPK1 ALPL ANK1 ANKFY1 ANKRD55 ANLN AP1S3 APOL1 AQP2 ARHGAP24 ARHGDIA ASAH1 ASXL1 ATM ATP13A2 ATP1A2 ATP5F1B AVP AVPR2 BACH2 BCAP31 BCL10 BCL2 BCL6 BCOR BCR BIRC3 BLNK BRCA1 BRCA2 BTK BTNL2 C1QB C2orf69 C3 C4A CACNA1A CACNA1S CALR CASK CCND1 CCR1 CD244 CD247 CD27 CD2AP CD3D CD3E CD70 CD79A CD79B CEBPE CFH CFHR1 CFHR3 CFTR CHD7 CHEK2 CIITA CLPB COG6 COG7 COL1A1 COL4A3 COQ8B CPOX CPT2 CR2 CRB2 CRLF1 CRLS1 CTLA4 CTRC CYBA CYBB CYBC1 CYP11B2 CYP21A2 DAAM2 DCLRE1C DDB2 DEF6 DIS3L2 DNASE2 DOCK2 DPP9 DST EDA EIF2AK3 EIF2B1 ELANE ELF4 ELP1 EMP2 ENPP1 EPB41 EPB42 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 F5 FAH FAS FBP1 FCGR3B FIP1L1 FOCAD FOXP1 G6PD GAA GALC GAPVD1 GATA2 GCH1 GFI1 GLA GPC3 GPR35 GYPC H19 H4C5 HAVCR2 HBB HEPHL1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMGCL HNRNPK HTR1A IBA57 IFIH1 IFNG IFNGR1 IGHM IGLL1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL1R1 IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL6ST IL7R INF2 IRAK1 IRF2BP2 IRF4 IRF8 ITK JAK2 KCNJ1 KIF1B KIT KLHL7 KLRC4 KRT18 LACC1 LAMA3 LAMB3 LAMC2 LBR LCK LIFR LIG4 LIPA LPIN1 LPIN2 LRRC8A LSM11 LYST MAGI2 MALT1 MCM10 MEFV MIF MLX MPL MRPS7 MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTHFS MVK MYD88 MYO1E NAB2 NABP1 NAXD NCF1 NCF2 NCF4 NDUFA2 NFKBIL1 NGF NGLY1 NKX2-1 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NPHS1 NPHS2 NPM1 NTRK1 NUAK2 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN ORAI1 OTULIN P4HA2 P4HTM PAX2 PEX6 PIK3CG PIK3R1 PKHD1 PLCE1 PML PMM2 PMP22 POLR3A POMP POU6F2 PRF1 PRKAR1A PRKCD PRNP PRSS1 PRSS2 PRTN3 PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTS QDPR RAB27A RAG1 RAG2 RANBP2 RARA RB1 RBCK1 REL REST RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNU4ATAC RNU7-1 RUNX1 RYR1 SAMHD1 SAT1 SCNN1A SCNN1B SCNN1G SCYL1 SEMA4D SH2B3 SH2D1A SH3KBP1 SLC11A1 SLC12A1 SLC12A3 SLC19A3 SLC22A4 SLC29A3 SLC34A2 SLC35C1 SLC39A7 SLC41A1 SLC4A1 SLC5A1 SMARCAL1 SPI1 SPINK1 SPP1 SPTA1 SPTB SPTBN1 SRP19 SRP54 SRSF2 STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STIM1 STING1 STK4 STX11 STXBP2 SYK TBC1D8B TBK1 TBL1XR1 TCF3 TCF4 TCIRG1 TET2 TH TICAM1 TLR3 TLR4 TLR7 TMEM165 TNFAIP3 TNFRSF1A TP53 TRAF3 TRANK1 TREX1 TRIM28 TRIP13 TRNT1 TRPC6 TSC1 TSC2 TSPOAP1 UBA1 UBAC2 UNC13D UNC93B1 UQCRH VANGL2 WAS WDR1 WIPF1 WT1 XIAP XPA XPC ZBTB16 ZFHX2 ZFYVE19 ZNF699 ZNFX1 HP_FEW_CAFE_AU_LAIT_SPOTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEW_CAFE_AU_LAIT_SPOTS BRAF GNB2 RBBP8 RFX7 SET TRIP13 HP_FIBER_TYPE_GROUPING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBER_TYPE_GROUPING ANXA11 EMILIN1 GDAP1 MYH14 POLG REEP1 SLC5A6 SPTLC1 TWNK YME1L1 HP_FIBROADENOMA_OF_THE_BREAST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROADENOMA_OF_THE_BREAST AKT1 APC CASP10 FAS FASLG PDE11A PRKAR1A PRKCD PRLR PTEN RASGRP1 HP_FIBROSARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROSARCOMA APC BMPR1A COL1A1 CTNNB1 FOXC2 GREM1 MTAP MUTYH PDGFB SPRED1 HP_FIBROUS_TISSUE_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROUS_TISSUE_NEOPLASM ABCA5 AKT1 ANTXR2 APC ATP6V1B2 BAP1 BMPR1A CASP10 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C COL4A5 COL4A6 CREB1 CTNNB1 DHCR24 ELMO2 FAM20A FAM20C FAS FASLG FLNA GREM1 HRAS IFNG IL6ST KCNH1 KCNMA1 KCNN3 KIT KLLN KRAS KRT17 LRP1 MEN1 MLH1 MSH2 MSH6 MTAP MUTYH NF1 NF2 NOTCH3 NRAS PDE11A PDGFB PDGFRB PIK3CA PLCD1 PRKAR1A PRKCD PRLR PTCH1 PTEN RASGRP1 REST RSPRY1 SDHB SDHC SDHD SEC23B SMARCB1 SMARCE1 SMO SOS1 SPRED1 SPTBN1 SUFU TERT TRAF7 TSC1 TSC2 USF3 HP_FIBULAR_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_APLASIA AMER1 BMPR1B CPLANE1 FLNA FLNB GDF5 LMBR1 RBM8A TBX15 WNT7A HP_FIBULAR_BOWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_BOWING CCDC47 CILK1 CLCN5 COL11A2 CYP27B1 CYP2R1 FGFR3 NOTCH2 PHEX SERPINH1 SLC34A3 VDR HP_FIBULAR_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_HYPOPLASIA AFF3 AFF4 AMER1 ATR BHLHA9 BMPR1B CEP120 COG4 COL11A1 DYNC2H1 EIF4A3 FLNA FZD2 GDF5 GPC6 IFT122 INPPL1 INTU MET PTH1R SF3B4 SHOX SLC35D1 SMOC1 SOX9 HP_FINE_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINE_HAIR ABCD1 ALMS1 ALX4 BRAF BRF1 CARS1 CBL CDH3 CDSN COL3A1 CSTB CTC1 DCAF17 DEAF1 DSG4 EDA EDAR EDARADD EED ERCC2 EZH2 GATAD2B GJA1 GJB6 GNPTAB GTPBP2 HECTD4 HPD HRAS IFT122 IFT43 IKBKG ITGA3 KAT6B KCTD1 KRAS KRT25 KRT71 KRT74 KRT81 KRT83 KRT86 LIG4 LIPH LPAR6 MAP2K1 MAP2K2 MED12 MSX1 NAA10 NBAS NSD1 NSUN2 OCRL PCNT PIGL PPP1R15B PYCR1 RAF1 RLIM RMRP RNU4ATAC SATB2 SIN3A SIN3B SKIC3 SLC7A7 SMAD4 SMARCAL1 SPINK5 SUOX SUZ12 TINF2 TP63 TRIM8 TRMT10A TRPS1 TWIST2 WDR35 WNT10A HP_FINGERNAIL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERNAIL_DYSPLASIA DVL1 DVL3 FZD2 IL11RA KRT16 KRT17 KRT6A KRT6B LMX1B LRP4 NXN ROR2 SOST TFAP2A TP63 WNT5A HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL CLN3 CLN5 CLN6 CLN8 DNAJC5 KCTD7 HP_FINGER_AGNOSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_AGNOSIA ABCA7 APP PSEN1 PSEN2 SORL1 TOMM40 TREM2 HP_FINGER_CLINODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_CLINODACTYLY ABCC8 ABL1 ACVR1 ADNP AFF2 AGO2 AKT1 ALDH1A2 ALG12 ALX1 ALX3 AMER1 AMMECR1 ANKRD11 AP1G1 ARID1B ATG7 ATP2B1 ATP6V1B2 ATR ATRIP ATRX AUTS2 B3GLCT BAZ1B BCL7B BCOR BCR BHLHA9 BLM BMP2 BMP4 BMPR1B BPTF BRAF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 BUD23 CANT1 CASZ1 CBL CCDC22 CCDC32 CCDC47 CCDC8 CCNK CCNQ CD96 CDC45 CDC6 CDH11 CDKN1C CDT1 CENPE CENPJ CEP152 CEP55 CEP57 CHD7 CHRNA7 CHSY1 CITED2 CKAP2L CLCN3 CLIP2 CNOT2 CNOT3 COG5 COG8 COL11A1 COL27A1 CPLANE1 CREBBP CRKL CSGALNACT1 CSNK2A1 CTCF CUL4B CUL7 DACT1 DDX11 DEAF1 DHPS DLK1 DLX3 DNA2 DNAJC30 DONSON DPAGT1 DPF2 DSP DVL1 DVL3 DYM EFNB1 EIF4A3 EIF4H ELN EMG1 EP300 EPB41L1 ERCC4 ESCO2 EVC EVC2 EXT2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGD1 FGF16 FGFR2 FGFR3 FKBP6 FLII FLNB FLT4 FOXP2 FRA10AC1 FZD2 GABRD GATA4 GATA5 GATA6 GDF1 GDF5 GJA1 GJA5 GJA8 GMNN GNB2 GPC3 GPC4 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H19 H3-3B H4C3 HDAC4 HDAC8 HEATR3 HIC1 HMGA2 HNRNPH1 HNRNPK HNRNPR HOXA11 HOXA13 HOXD13 HSPG2 IFT122 IFT140 IFT43 IFT52 IGF1 IGF2 IHH IQSEC2 IRX5 JAG1 JUP KAT6B KAT8 KCNAB2 KCNJ11 KCNJ2 KCNK4 KCTD1 KDM1A KDM4B KDM6B KDR KIAA0753 KIF7 KIFBP KLF13 KMT2A KMT2B KNSTRN KPTN KRAS L1CAM LEMD3 LIG4 LIMK1 LMNA LMNB2 LMX1B LTBP1 LUZP1 LZTR1 MACROH2A1 MAD2L2 MAF MAN1B1 MAP1B MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MCTP2 MECOM MECP2 MED12 MEF2C MEG3 MEGF8 METTL27 MIA3 MITF MLXIPL MMP23B MRAS MYCN MYL11 NAA10 NAA20 NARS2 NCF1 NEDD4L NEK1 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NOG NONO NPR2 NRAS NSD2 NSUN2 NUP37 NUP85 NXN OBSL1 ODC1 OFD1 OGT ORC1 ORC4 ORC6 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PCNT PDE6D PDPN PHF21A PHIP PIEZO2 PIGH PIGL PIGN PIGS PIGY PIK3CD PITX1 PKDCC PLAG1 PLK4 PLXND1 PNPLA6 POLA1 PPP2R1A PQBP1 PRDM16 PRKACB PRKCZ PRR12 PTEN PTH1R PTPN11 PUF60 QRICH1 RAB11B RAB18 RAB23 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RB1 RBBP8 RBM8A RERE REV3L RFC2 RFWD3 RIT1 RNF216 RNU4ATAC ROR2 RPL10 RRAS RRAS2 RSPRY1 RTL1 RUNX2 SALL1 SATB2 SEMA3E SH3PXD2B SHANK3 SHOX SIAH1 SIK3 SIN3A SKI SLC2A10 SLC9A7 SLX4 SMARCA2 SMC1A SMC3 SMOC1 SNRPB SNRPN SOS1 SOS2 SOX4 SOX6 SPECC1L SPEN SPOP SPRED1 SPRED2 SRCAP STAG1 STAG2 STX1A TBC1D24 TBL2 TBX1 TBX15 TBX4 TBX5 TCF20 TCF4 TCTN3 TELO2 TFAP2A TFAP2B TGDS TMEM147 TMEM216 TMEM270 TOPORS TP63 TPR TRAIP TRAPPC9 TRIO TRIP13 TRPM3 TRPS1 TRPV4 TRRAP TWIST1 TWIST2 UBA2 UBE2T UBE3A UBE3B UBE4B UBR1 USP7 VPS13B VPS37D WDR11 WDR19 WDR35 WDR4 WIPI2 WNT5A XRCC2 XRCC4 XYLT1 YWHAE YY1AP1 ZC4H2 ZFPM2 ZMYM2 ZNF292 ZNF462 HP_FINGER_SWELLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SWELLING MMP2 OCRL PSMB4 PSMB8 PSMB9 TRAPPC2 HP_FINGER_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SYNDACTYLY ABCC9 ADAMTS3 AKT1 ALDH1A2 APC ARHGAP31 ARL6 ARL6IP6 BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BHLHA9 BMP4 BMS1 BRCA1 BRCA2 BRIP1 BTRC CACNA1C CCBE1 CCDC22 CDC45 CDH1 CDH11 CDH3 CEP19 CEP290 CFAP418 CHRNG CHSY1 CHUK CKAP2L CPLANE1 CTNND1 CTNND2 DCHS1 DHCR7 DHODH DLL3 DLL4 DLX5 DLX6 DOCK6 DPYSL5 DSP DVL1 DVL3 EED EFNB1 EOGT EPS15L1 ERCC4 ESCO2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXW4 FERMT1 FGD1 FGF10 FGFR1 FGFR2 FGFR3 FLI1 FLNB FRAS1 FREM2 FZD2 GDF5 GJA1 GLI3 GNA11 GPC3 GPC4 GRIP1 H4C9 HDAC4 HES7 HOXA11 HOXD13 IFT122 IFT172 IFT27 IFT43 IFT52 IFT74 IKBKG IRF6 ITGB4 JUP KAT6A KCNJ8 KCTD1 KIF7 KIFBP LFNG LMBR1 LRP4 LZTFL1 MAB21L2 MAD2L2 MECOM MED12 MED25 MEGF8 MESP2 MKKS MKS1 MYH3 NAA10 NECTIN1 NECTIN4 NEDD4L NEK1 NEK9 NOG NOTCH1 NPHP1 NSD1 NSDHL NXN OFD1 ORC1 PALB2 PAX3 PHGDH PIEZO2 PIK3CA PITX1 PLEC PLXND1 PNPLA6 PORCN PPP2R3C PSAT1 PTDSS1 PTEN RAB23 RAD51 RAD51C RB1 RBM10 RBM8A RBPJ REV3L RFWD3 RIPK4 RIPPLY2 ROR2 RPL10 RTTN SALL1 SALL4 SCAPER SCLT1 SDCCAG8 SEM1 SEMA5A SETBP1 SF3B4 SHH SLX4 SMO SMOC1 SOST SPECC1L SUZ12 TBX5 TCTN3 TMEM53 TP63 TRIM32 TTC8 TWIST1 TWIST2 UBA2 UBE2T UBE3A VPS13B VPS35L WASHC5 WDPCP WDR19 WDR35 WNT10B WNT5A WNT7A XRCC2 HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK ABCC9 ACTC1 AKAP9 CACNA1C CACNA2D1 CACNB2 CITED2 CTNNA3 DMPK DOHH DTNA EMD GATA4 GATA6 GJA5 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNJ8 KCNK3 LMNA MYBPC3 MYH6 MYL4 MYPN NKX2-5 PKP2 PSEN1 PSEN2 RANGRF SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TBX20 TBX5 TLL1 TRPM4 HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS ATP1A2 BSCL2 CACNA1A GARS1 JAG1 PRRT2 REEP1 SCN1A HP_FLANK_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLANK_PAIN APRT CALR JAK2 MPL TBX18 TET2 HP_FLARED_ILIAC_WING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_ILIAC_WING AIFM1 ARSB B3GALT6 BGN CREBBP DDR2 EP300 FLNA GLB1 GNPTAB GNPTG GPC3 GPC4 GPX4 IDUA IHH MMP13 PHEX RAB23 TRIP11 TRPV4 VPS33A HP_FLARED_LOWER_LIMB_METAPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_LOWER_LIMB_METAPHYSIS COL11A2 COMP EZH2 POLR1A TRPV4 HP_FLARED_METAPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_METAPHYSIS ALG9 ANKH B3GALT6 B3GAT3 B4GALT7 CHST3 COG4 COL10A1 COL11A2 COL2A1 COMP CYP3A4 DDR2 DDRGK1 EED ERCC1 EZH2 FAM111A FGFR3 FIG4 FLNA GJA1 GSC IARS2 KIF22 LBR LIFR MAP3K7 MMP13 NANS NPR2 OSTM1 PCNT PCYT1A PEX7 POLR1A PRKG2 PTDSS1 PTH1R RMRP RUNX2 SH3PXD2B SLC39A13 TAPT1 TCIRG1 TONSL TRPV4 VAC14 XYLT1 HP_FLARED_NOSTRILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_NOSTRILS ANKRD17 BRCC3 CAMTA1 CDC42 NAA10 PDHA1 SIN3A SMOC1 TCF4 USP9X HP_FLARING_OF_RIB_CAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARING_OF_RIB_CAGE B3GALT6 DYM GALNS GLB1 IL1RN RMRP TRIP11 TRPV4 HP_FLATTENED_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_EPIPHYSIS ACAN AIFM1 CANT1 CCN6 CHST3 COL2A1 COL9A1 COL9A2 EIF2AK3 GNPTG IFT122 KIF22 KIF7 MMP13 PTH1R RAB33B SLC10A7 SLC26A2 SLC39A13 TBX4 TONSL TRPS1 TRPV4 UFSP2 HP_FLATTENED_FEMORAL_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_EPIPHYSIS ACAN CCN6 COL2A1 COL9A1 GNPTG KIF22 SLC26A2 SLC39A13 TBX4 TONSL TRPS1 TRPV4 UFSP2 HP_FLATTENED_FEMORAL_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_HEAD COL2A1 GLB1 PRG4 RAB33B RSPRY1 TRAPPC2 TRPV4 HP_FLAT_ACETABULAR_ROOF https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_ACETABULAR_ROOF BGN CANT1 CEP120 CHD4 COG1 COL2A1 COMP CSGALNACT1 DYM FGFR3 FIG4 FLNB GNPTAB GPX4 IFT52 INPPL1 LYSET MATN3 NANS PAM16 PTH1R RAB33B SLC26A2 SLC35D1 TRIP11 TRPV4 WDR35 XYLT1 HP_FLAT_CORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_CORNEA BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EIF4H ELN FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KERA LIMK1 MARK3 METTL27 MLXIPL NCF1 PRDM5 RFC2 STX1A TBL2 TGFB2 TMEM270 VPS37D HP_FLAT_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FACE ABCC9 ADAMTS3 ALG2 AMER1 AMMECR1 ATP6V0A2 ATRX B3GALT6 B3GAT3 B4GALT7 BPNT2 BRPF1 CAMK2G CCBE1 CDCA7 CDH1 CDH11 CHST3 COL11A1 COL11A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 CREBBP CTNND1 DCPS DEAF1 DNMT3B DVL1 EBP EHMT1 EP300 FAT4 FBXO31 FGFR2 FGFR3 FLNA FLNB FN1 GAD1 GATA1 GLB1 GNPTAB GPC6 GUSB HELLS HSPG2 KAT5 KIAA0753 KIF22 KMT2A LONP1 MAF MAN2B1 MAPRE2 MATN3 MN1 MYH3 PAICS PAK3 PAX3 PDE4D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PLOD3 PPP1R12A PPP2R3C PRMT7 PTCH1 RAB5IF RAD21 ROR2 SLC26A2 SLC35B2 SLC39A8 SMARCA2 SMC3 SOX9 SUMF1 TAPT1 TBX22 TMCO1 TMEM70 TRIP11 TUBB TWIST1 WNT5A XYLT1 ZBTB24 HP_FLAT_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FOREHEAD B4GALT7 CAMK2G CHST14 COG7 EXT2 FGFR2 IARS2 IL11RA KCNH1 KNSTRN LRP5 PIK3CD RECQL4 TWIST1 HP_FLAT_NASAL_ALAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_NASAL_ALAE DDB2 ERCC2 ERCC3 ERCC4 ERCC5 PTCH1 XPA XPC HP_FLAT_OCCIPUT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_OCCIPUT ADSL AMER1 ASPM CYP27B1 CYP2R1 DPM1 EHMT1 EZH2 FGFR2 FIG4 HK1 IL11RA INPPL1 KIF11 MAN1B1 MAN2B1 MCTP2 METTL23 OCA2 OCRL OTUD6B PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PPP1R21 PTCH1 RALGAPA1 RPS23 SATB2 SETD1B SH3PXD2B SLC25A12 SLC34A3 SLC35A1 SNRPN SYNE1 TAF1 TMEM70 TUBB3 TWIST1 UBE3A UBE3B UFC1 VDR WDR73 ZIC1 HP_FLEXION_CONTRACTURE_OF_DIGIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_DIGIT ABL1 ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ALG12 ALG8 ALX1 ALX3 AMER1 ANTXR2 APC2 ARID1B ARPC4 ARX ASXL1 ASXL3 ATAD1 ATP6V1A ATP6V1E1 ATPAF2 B9D2 BCOR BCR BGN BHLHA9 BLTP1 BRPF1 CACNA1C CANT1 CAPN3 CASZ1 CCBE1 CCDC22 CCDC32 CCN6 CDC42 CDC45 CDC6 CDH3 CDK13 CDT1 CHD7 CHN1 CHRNG CHST3 CLCF1 CNTN1 COG1 COG5 COL11A1 COL11A2 COL12A1 COL1A1 COL3A1 COL6A1 COL6A2 COL6A3 CRKL CRLF1 CSGALNACT1 CTDP1 CUL4B DCHS1 DHODH DLK1 DLL3 DOK7 DPAGT1 DPH1 DPH2 DPM1 DSE DSP DUSP6 DVL1 DVL3 DYM ECEL1 EED EFNB1 EIF5A EMG1 EPB41L1 ERCC1 ERCC2 ERCC5 ERCC6 ERLIN2 EXOSC5 EZH2 FAT4 FBN1 FBN2 FBXO28 FERMT1 FGD1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FHL1 FIBP FKTN FLNA FLVCR1 FZD2 GABRD GDF5 GJA1 GJA5 GJA8 GLDN GLI3 GLUL GMNN GNPTAB GNRH1 GNRHR GON7 GORAB GPC3 GPC4 GPKOW H1-4 H4C9 HES7 HINT1 HOXD13 HS6ST1 HSPG2 HUWE1 IDS IDUA IGHMBP2 IKBKG IL6ST IPO8 ITCH JUP KAT6B KCNAB2 KCNK9 KDM5B KDM5C KIF15 KIF21A KISS1 KISS1R KLHL7 KRT1 KRT16 KRT9 L1CAM LAGE3 LAMB3 LBR LFNG LGI4 LIFR LMBR1 LMBRD2 LMNA LUZP1 MAF MAFB MAGEL2 MAP3K7 MAPK1 MBTPS2 MED12 MED13L MED25 MEG3 MEGF10 MEGF8 MESP2 MET MKS1 MMP2 MMP23B MORC2 MSL3 MUSK MYBPC1 MYH3 MYL11 MYO9A MYOD1 NAA10 NALCN NEDD4L NEK9 NHLH2 NKAP NLRP3 NOD2 NOG NSD1 NSMF NT5C2 NUP107 NUP133 NUP188 NUP88 NXN OCRL ORC1 ORC4 ORC6 OSGEP PAX3 PDPN PERP PEX1 PEX2 PEX5 PEX6 PHF6 PHGDH PIEZO2 PIGL PIGN PLOD3 POLR3A POLR3GL POR PORCN PPP2R5D PQBP1 PRDM16 PRDM5 PRG4 PRKCZ PROK2 PROKR2 PSMB8 RAB23 RAB3GAP1 RAPSN RERE RIC1 RIPPLY2 ROR2 RPL10 RTL1 RTTN SALL4 SATB2 SCARF2 SCN4A SETBP1 SETD2 SH3PXD2B SHH SKI SLC18A3 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SMAD3 SMAD4 SMARCAD1 SMC1A SMG9 SMOC1 SMS SNX14 SPART SPEN SPRY4 STAC3 SUZ12 TAC3 TACR3 TBC1D2B TBR1 TBX15 TBX2 TBX3 TCTN3 TDO2 TGDS TGFB3 TGFBR1 TGFBR2 THOC6 TLK2 TMEM70 TNNC2 TNNI2 TNNT3 TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPRKB TRPS1 TRPV4 TUBA1A TUBB3 TWIST2 UBE4B UPF3B WDR11 WDR4 WDR73 WIPI2 WNT5A XYLT1 YRDC ZC4H2 ZDHHC9 ZEB2 ZMPSTE24 ZNF407 ZNF469 HP_FLUCTUATIONS_IN_CONSCIOUSNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUCTUATIONS_IN_CONSCIOUSNESS ALAD GBA1 MEN1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW SLC25A13 SNCA SNCB YY1 HP_FLUSHING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUSHING ADGRE2 ALDH2 APC2 ASXL1 ATP1A2 ATP1A3 ATRX BRAF CACNA1A CBL CDH23 DEPDC5 DLST DNMT3A EPAS1 FH HNF4A HPGD KIF1B KIT MAOA MAX MDH2 NF1 NPRL2 NPRL3 NR3C1 NSD1 RET RUNX1 RYR1 SCN9A SDHA SDHAF2 SDHB SDHC SDHD SETD2 SLC1A3 SLC25A11 SRSF2 TET2 TMEM127 TP53 USP48 USP8 VHL HP_FOAMY_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAMY_URINE ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA CD2AP COL4A3 COQ8B CRB2 DAAM2 EMP2 GAPVD1 INF2 MAGI2 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PLCE1 PTPRO TBC1D8B TRPC6 WT1 HP_FOAM_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAM_CELLS APOE ASAH1 CSF2RA CSF2RB GLB1 HLA-DRB1 LCAT LIPA NEU1 NPC1 NPC2 PIK3CG SC5D SMPD1 HP_FOCAL_AUTONOMIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AUTONOMIC_SEIZURE DEPDC5 GAL KCNQ2 KCNQ3 KCNT1 LGI1 MICAL1 RELN HP_FOCAL_AWARE_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AWARE_SEIZURE ALDH7A1 CNTNAP2 CPA6 DEPDC5 FRRS1L GABRA1 GABRG2 GAL GJC2 GRIN2A LGI1 MICAL1 NPRL2 NPRL3 PCDH19 PLPBP RELN SCN1A SCN1B SCN2A SCN9A SUPT16H TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_FOCAL_CLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CLONIC_SEIZURE ADAM22 ATP1A3 CACNA2D1 CUX2 DMXL2 FRRS1L FZR1 GABBR2 GABRA1 GABRG2 GLYCTK GNB1 GRIN2A KANSL1 KCNK4 KCNQ2 KCNQ3 KCNT1 LGI1 MICAL1 PACS2 PCDH12 PCDH19 PEX3 PIGA PLCB1 PRRT2 RELN SCN1A SCN1B SCN2A SCN8A SCN9A SLC12A5 SLC25A22 SMARCAL1 SRPX2 ST3GAL3 TBC1D24 UFSP2 HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU DEPDC5 GAL LGI1 MICAL1 NPRL2 NPRL3 RELN HP_FOCAL_CORTICAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA AKT3 CNTNAP2 COL4A1 COPB2 DEPDC5 DYNC1H1 MTOR NPRL2 NPRL3 NUP133 PIK3CA POMT1 SCO2 TSC1 TSC2 HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II DEPDC5 MTOR NPRL3 TSC1 TSC2 HP_FOCAL_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_DYSTONIA AARS1 ACTA1 ALDH18A1 ALG9 ALS2 ANO3 AOPEP ARX ATN1 ATP13A2 ATP1A3 ATP5MC3 B3GALT6 C19orf12 CACNA1A CASR CDK10 CEP85L CHN1 CIZ1 CNP COASY COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COLEC11 COX20 CP CPLX1 DDC DRD2 DRD5 FGFR2 FGFR3 FLI1 FOXP2 FTL FUS GCH1 GDAP2 GNA11 GNAL GNAS GRIK2 HEXB HINT1 HK1 HPCA HSPG2 IMPDH2 ITGA7 KCNA1 KCNC3 KCNN2 KCTD17 KIF1C KIF21A KMT2B MAFB MAPT MECR MYF5 NAA10 NAXE NDUFA6 NEK9 NGLY1 NKX6-2 NR4A2 PANK2 PARK7 PCGF2 PHOX2A PLA2G6 PLP1 PNKD POLR1B POLR1C POLR1D PRDX3 PRKAR1B PRKCG PRKRA PRRT2 REEP1 RNF170 ROBO3 SALL4 SCP2 SGCE SIGMAR1 SLC19A3 SLC39A14 SLC6A3 SOX10 SPG11 SPTBN1 SPTLC1 STARD7 STX16 SUPT16H SYNGAP1 TACSTD2 TAF1 TBC1D24 TBP TCOF1 TGFB2 TGM6 TH THAP1 TIMM8A TMEM151A TOR1A TRPM3 TRPV4 TSPOAP1 TUBA1A TUBB2B TUBB3 TUBB4A TWIST1 VAC14 VPS11 VPS13A VPS13D VPS16 ZNF142 HP_FOCAL_EMOTIONAL_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_EMOTIONAL_SEIZURE GLI3 GRIN1 KCNQ2 KCNT1 MTHFS NGLY1 PACS1 PHGDH PIGA PLCB1 SCN1A SCN2A SLC12A5 SLC25A22 SLC38A3 SMO TBC1D24 HP_FOCAL_HEMICLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_HEMICLONIC_SEIZURE ATP1A3 CACNA2D1 CUX2 FRRS1L FZR1 GABRA1 GABRG2 GNB1 GRIN2A KANSL1 KCNQ2 KCNT1 PCDH19 PIGA PLCB1 SCN1A SCN1B SCN2A SCN8A SCN9A SLC12A5 SLC25A22 SMARCAL1 TBC1D24 HP_FOCAL_HYPERKINETIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_HYPERKINETIC_SEIZURE CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 KCNT1 HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE ACSF3 ADGRV1 AGO1 AP2M1 APC2 ARHGEF9 ATP1A3 ATP6V0A1 ATP6V1B2 ATXN10 BRAT1 CACNA1A CACNA1D CACNA2D1 CAMK2B CDH2 CEP85L CIC CLCN4 CLN8 CNOT1 CNPY3 CNTN2 CNTNAP2 CPA6 CRIPT DEPDC5 DNM1 DNM1L DOCK7 EPM2A FGF13 FGFR3 FIG4 FMN2 FRRS1L GABBR2 GABRA1 GABRA3 GABRD GABRG2 GAL GAMT GJC2 GNAI1 GNAO1 GNB1 GNB2 GRIK2 GRIN1 GRIN2A GRIN2B HCN1 HID1 HTT ITPR1 KCNB1 KCNC2 KCNQ2 KCNQ3 KCNQ5 KCNT1 KDM6A KDM6B KMT2D LAMC3 LGI1 LGI4 LRP5 MACF1 MAST3 MICAL1 MTOR MYT1L NHLRC1 NPRL2 NPRL3 NSD1 NUS1 OPHN1 PAFAH1B1 PCDH19 PDE2A PIGA PLCB1 PNPLA8 POGZ PPFIBP1 PRRT2 RELN RNU12 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SETD2 SLC12A5 SLC25A22 SLC31A1 STRADA STX1B STXBP1 SUPT16H TANGO2 TBC1D24 TBK1 TGFB1 TICAM1 TLR3 TRAF3 TRIM8 TSC1 TSC2 UNC93B1 VPS11 VPS35L ZNFX1 HP_FOCAL_MOTOR_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_SEIZURE ADAM22 AKT3 ALDH7A1 AP3D1 ARX ATP1A2 ATP1A3 ATXN10 BTD CABP4 CACNA1A CACNA1D CACNA2D1 CAMTA1 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN5 CRH CUX2 DEPDC5 DMXL2 DPAGT1 DPYD EN1 ERMARD EXTL3 FAR1 FRRS1L FZR1 GABBR2 GABRA1 GABRG2 GLYCTK GNAO1 GNB1 GRIA3 GRIN1 GRIN2A HACE1 KANSL1 KCNK4 KCNQ2 KCNQ3 KCNT1 KCTD7 LAMC3 LGI1 MICAL1 MTOR NDUFA2 NDUFAF6 NGLY1 NR4A2 PACS2 PAFAH1B1 PCDH12 PCDH19 PEX3 PIGA PIK3CA PLCB1 PLPBP POLG POU4F1 PPP3CA PRRT2 PTPN23 PURA PYCR2 RELN SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SDHA SDHAF1 SDHB SDHD SIK1 SLC12A5 SLC1A2 SLC1A3 SLC25A22 SLC35A3 SMARCAL1 SMS SNORD118 SRPX2 ST3GAL3 STXBP1 TBC1D24 TMEM231 UFSP2 WDR45B YWHAG HP_FOCAL_MOTOR_STATUS_EPILEPTICUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_STATUS_EPILEPTICUS BRAT1 COQ8A GABRA1 GABRG2 MAST3 MRM2 PCDH19 PDE2A PDSS2 POLG SCN1A SCN1B SCN2A SCN9A SLC38A3 TWNK HP_FOCAL_MYOCLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MYOCLONIC_SEIZURE ALDH7A1 AP3D1 CACNA1D CAMTA1 CLN5 EXTL3 GRIN2A HACE1 KCTD7 PLPBP POLG POU4F1 PYCR2 SATB1 SDHA SDHAF1 SDHB SDHD SIK1 SLC25A22 TMEM231 HP_FOCAL_NON_MOTOR_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_NON_MOTOR_SEIZURE ADGRG1 ATP1A2 CACNA1A CNTN2 DEPDC5 EPM2A GAL GLI3 GRIN1 KCNA1 KCNQ2 KCNQ3 KCNT1 LGI1 MICAL1 MTHFS NGLY1 NHLRC1 NPRL2 NPRL3 PACS1 PCDH19 PDE2A PHGDH PI4KA PIGA PLCB1 PRRT2 RELN SCN1A SCN2A SCN8A SLC12A5 SLC25A22 SLC38A3 SMO SRPX2 TBC1D24 TREX1 HP_FOCAL_ONSET_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_ONSET_SEIZURE ACO2 ACSF3 ADAM22 ADGRG1 ADGRV1 ADPRS ADRA2B AFF3 AGO1 AKT1 AKT3 ALDH7A1 AMACR AP2M1 AP3D1 AP4S1 APC2 ARF1 ARFGEF2 ARHGEF9 ARV1 ARX ATP1A2 ATP1A3 ATP5PO ATP6V0A1 ATP6V1A ATP6V1B2 ATXN10 BAP1 BRAT1 BTD CABP4 CACNA1A CACNA1C CACNA1D CACNA2D1 CAMK2B CAMTA1 CARS2 CASK CDC40 CDH2 CDKL5 CEP85L CHD2 CHRNA2 CHRNA4 CHRNB2 CIC CLCN3 CLCN4 CLCNKB CLN3 CLN5 CLN6 CLN8 CNOT1 CNPY3 CNTN2 CNTNAP2 COL4A1 COL4A2 COPB1 COX11 CPA6 CPLX1 CRH CRIPT CSF1R CTNND2 CTSF CUX2 CYP26C1 DCX DEPDC5 DMXL2 DNM1 DNM1L DOCK7 DOLK DPAGT1 DPYD DPYSL5 DYNC1H1 EN1 EPM2A ERMARD EXOC7 EXTL3 FA2H FAR1 FBP2 FBXO28 FGF12 FGF13 FGFR3 FIG4 FLNA FMN2 FRRS1L FZR1 GABBR2 GABRA1 GABRA3 GABRA5 GABRB3 GABRD GABRG2 GAL GALNT2 GAMT GJC2 GLI3 GLYCTK GNAI1 GNAO1 GNB1 GNB2 GOLGA2 GOSR2 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 H4C5 HACE1 HCN1 HHAT HID1 HTT IER3IP1 IFNG ITPR1 KANSL1 KCNA1 KCNB1 KCNC2 KCNJ11 KCNK4 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCTD7 KDM6A KDM6B KMT2D LAMA2 LAMC3 LGI1 LGI4 LRP5 MACF1 MAP1B MAPK10 MARCHF6 MAST3 MBOAT7 MDH2 METTL23 MICAL1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTFMT MTHFR MTHFS MTOR MYT1L NACC1 NARS1 NBEA NCDN NDUFA2 NDUFAF6 NECAP1 NEDD4L NEUROD2 NEXMIF NF1 NF2 NFU1 NGLY1 NHLRC1 NPRL2 NPRL3 NR4A2 NSD1 NUS1 OPHN1 PACS1 PACS2 PAFAH1B1 PCDH12 PCDH19 PCYT2 PDE2A PDGFB PDSS2 PEX3 PHGDH PI4KA PIGA PIGP PIGQ PIGS PIGW PIK3CA PLCB1 PLPBP PNKP PNPLA8 POGZ POLG POLR3A POLRMT POU4F1 PPFIBP1 PPIL1 PPP2CA PPP2R5D PPP3CA PRMT7 PRRT2 PSAP PTPN23 PURA PUS3 PYCR2 RARS1 RELN RNU12 ROGDI RPL10 SAMD12 SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHA SDHAF1 SDHB SDHD SEC31A SETD2 SIK1 SLC12A3 SLC12A5 SLC13A5 SLC1A2 SLC1A3 SLC22A5 SLC25A10 SLC25A22 SLC2A1 SLC31A1 SLC32A1 SLC35A3 SLC38A3 SLC6A1 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMO SMS SNORD118 SPATA5L1 SPTBN1 SRPX2 ST3GAL3 STRADA STX1B STXBP1 SUFU SUPT16H SYN1 SYNGAP1 SZT2 TANGO2 TBC1D24 TBCK TBK1 TERT TFE3 TGFB1 TICAM1 TLR3 TMEM231 TMEM94 TMTC3 TRAF3 TRAF7 TREX1 TRIM8 TSC1 TSC2 TUBA1A TUBB2B TUBB3 UFSP2 UNC93B1 VAMP2 VARS1 VARS2 VPS11 VPS35L WARS2 WDR45B YEATS2 YWHAG ZEB2 ZNFX1 HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA CD2AP CLCN5 CLCNKB COL4A3 COQ2 COQ6 COQ8B CRB2 DAAM2 EMP2 G6PC1 GAPVD1 GON7 INF2 ITGA3 JAG1 KIRREL1 LAGE3 LAMA5 LMX1B MAGI2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTX2 MYO1E NARS2 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PLCE1 PTPRO REN SCARB2 SEC61A1 SGPL1 SLC12A3 SLC37A4 SMARCAL1 TBC1D8B TP53RK TPRKB TRPC6 VPS33A WDR4 WDR73 WT1 HP_FOCAL_SENSORY_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE ADGRG1 ATP1A2 CACNA1A CNTN2 EPM2A GAL KCNA1 LGI1 MICAL1 NHLRC1 PCDH19 PI4KA PRRT2 RELN SCN1A SRPX2 TREX1 HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES CNTN2 EPM2A LGI1 MICAL1 NHLRC1 RELN HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION ALG2 ETHE1 GFAP LRPPRC MECR MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NDUFS1 NDUFS4 PDE10A PDSS2 PRNP SPG11 SUCLG1 TACO1 HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION CCM2 FOXRED1 KRIT1 MT-ND1 MT-ND2 MT-ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL PDCD10 PIK3CA TIMMDC1 TMEM126B HP_FOCAL_TONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_TONIC_SEIZURE AKT3 CACNA1A CLCN4 EN1 GNAO1 GRIA3 KCNQ2 KCNQ3 MTOR NGLY1 PACS2 PIK3CA PRRT2 PURA SCN2A SCN8A SIK1 SLC1A2 SLC25A22 WDR45B HP_FOCAL_WHITE_MATTER_LESIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_WHITE_MATTER_LESIONS ADNP MTOR MTRFR PDP1 PIK3C2A POLG POLG2 RNASET2 RRM2B SLC25A4 TREX1 TSC1 TSC2 TWNK ZEB2 HP_FOLLICULAR_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERKERATOSIS CAST COL6A1 COL6A2 COL6A3 DDR2 DSC3 DSG4 FKBP14 GJB2 GJB6 KRT16 KRT17 KRT6A KRT6B KRT81 KRT83 KRT86 LRP1 MBTPS2 NLRP1 PKP1 PLOD1 POFUT1 PSENEN RBP4 RHBDF2 SLC27A4 SREBF1 TARS1 TRIP4 WNT10A HP_FOLLICULAR_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERPLASIA CASP10 CD19 CR2 CTNNBL1 FAS FASLG ICOS KRAS NRAS PRKCD STING1 SYK TET2 TNFRSF13B TNFRSF13C HP_FOLLICULAR_THYROID_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_THYROID_CARCINOMA AKT1 FOXE1 HABP2 HRAS KLLN MINPP1 NRAS PDE11A PIK3CA PRKAR1A PTEN SDHB SDHC SDHD SEC23B SRGAP1 USF3 HP_FOLLICULITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULITIS GJB2 GJB6 IL10RA IL10RB IL17RA IVNS1ABP KRT17 MBTPS2 XIAP HP_FOOD_ALLERGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_ALLERGY ABCC9 CAMK2B CARD11 DOCK8 DSG1 FOCAD FOXP3 IGHG2 IGKC IL6ST JAK1 PGM3 RBM8A SLC27A4 SOX6 SPINK5 SPTBN1 HP_FOOD_INTOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_INTOLERANCE ALG3 ASXL1 CLMP COG8 ELN GALT MLXIPL SRCAP UNC45A HP_FOOT_ACROOSTEOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_ACROOSTEOLYSIS COL3A1 KIF1A LMNA NOTCH2 RETREG1 SCN9A WNK1 ZMPSTE24 HP_FOOT_DORSIFLEXOR_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_DORSIFLEXOR_WEAKNESS AARS1 ACTA1 ACTN2 ADSS1 ALDH18A1 ATL1 ATL3 ATP1A1 BSCL2 CADM3 CFL2 COA7 COL12A1 COL6A1 COL6A2 COL6A3 COX20 COX6A1 CRYAB DES DNAJB2 DYSF EGR2 FA2H FHL1 FLNC GBF1 GDAP1 GIPC1 GJB1 GNB2 GNE GYG1 HACD1 HINT1 HNRNPA1 HSPB1 IGHMBP2 INF2 ITGA7 JAG1 KARS1 KIF1A KIF1B KLHL41 KY LBR LDB3 LIG3 LMNA LMOD3 LRP12 LRSAM1 LYST MAP3K20 MARS1 MCM3AP MFN2 MME MORC2 MPV17 MPZ MTRFR MYH7 MYL2 MYOT NEB NEFL NF2 NOTCH2NLC ORAI1 PLIN4 PMP22 PNPLA2 POLG PRX RAB7A RAI1 REEP1 RILPL1 RRM2B SACS SBF2 SCO2 SELENON SH3TC2 SIGMAR1 SLC12A6 SLC25A21 SMCHD1 SPG11 SPTLC1 SPTLC2 SQSTM1 SYT2 TBCE TCAP TIA1 TNNT1 TPM2 TPM3 TRPV4 TTN TYMP VCP VWA1 HP_FOOT_JOINT_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_JOINT_CONTRACTURE ABCC9 ABHD12 ACTA1 ADAT3 ALAD ALS2 AMER1 ANO5 APC2 ATP5F1D BCAS3 BCOR BICD2 BRF1 C18orf32 C19orf12 CAPN3 CAV1 CCN2 CCR6 CHRNG COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COL7A1 CRPPA DAG1 DDHD2 DDR2 DMD DPM1 DSP DYRK1A EIF5A EMD ERCC1 ERCC4 ERCC6 ERCC8 ERGIC1 ERLIN2 ESCO2 FBN1 FGFR3 FHL1 FIG4 FKBP10 FKRP FKTN FLNA GJB1 GLI3 GNS HACD1 HINT1 HLA-DRB1 HRAS HSPG2 IPO8 IRF5 ITGA7 JAG2 JUP KCNK9 KIAA0319L KLHL9 KY LARGE1 LGI4 LIFR LMNA LMX1B MAP3K20 MARS1 MEGF10 MMP1 MMP2 MT-TE MYBPC1 MYH3 MYL11 MYL2 MYOT NEB NFATC2 NGLY1 NOD2 NSD1 NSUN2 NT5C2 OPA1 ORAI1 PHF6 PI4KA PIEZO2 PIGN PLEC PNPT1 POMT1 PPP2R5D PRG4 PSAT1 PSMB8 PTRH2 PYROXD1 REEP1 RPL10 RTTN RYR1 SCARF2 SCN4A SCYL2 SELENON SETD2 SGCA SGCG SLC12A6 SLC1A4 SLC25A4 SLC29A3 SLC39A14 SPG11 SPTBN4 SVIL SYNE1 SYNE2 SYT2 TBC1D2B TGFB3 TMEM43 TNNT1 TOR1AIP1 TPM2 TPM3 TTN UBA1 UFC1 VARS1 ZC4H2 HP_FOOT_OLIGODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_OLIGODACTYLY APC DLL4 DLX5 GLI3 LRP4 PORCN SF3B4 SMOC1 WNT10B WNT7A HP_FRACTURES_OF_THE_LONG_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRACTURES_OF_THE_LONG_BONES CLCN7 LBR MTAP SQSTM1 TAPT1 TBCD TNFRSF11A TRPV6 HP_FRAGILE_NAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_NAILS AARS1 AP1B1 ATP6V0A2 CAMK2G CARS1 COL7A1 DLX3 DSP EFNB1 ERCC2 ERCC3 FTL GJA1 GTF2E2 GTF2H5 HEPHL1 HRAS KRT14 LAMB3 LMNA MPLKIP MSX1 PRKD1 RNF113A SIN3A SIN3B SLURP1 SMARCD2 TARS1 TRPS1 HP_FRAGILE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_SKIN ADAMTS2 B3GALT6 C1R C1S CAST CHST14 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL7A1 CPOX DSP EXPH5 FERMT1 GATA1 ITGA3 ITGB4 JUP KRT1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 MMP1 PDGFRB PKP1 PLEC PLOD1 PRKACA UROD UROS HP_FRAGMENTED_ELASTIC_FIBERS_IN_THE_DERMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGMENTED_ELASTIC_FIBERS_IN_THE_DERMIS ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 CYP26C1 EFEMP2 ELN FBLN5 LTBP1 HP_FRAGMENTED_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGMENTED_EPIPHYSES COL9A1 COL9A2 COL9A3 COMP KIF22 HP_FRECKLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRECKLING ABCB6 ACD AP3D1 BAP1 BRAF CDH3 CDK4 CDKN2A CDKN2B DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 GPR143 HPS1 KAT6A KRT5 MC1R MGMT MITF MLH1 MSH6 NBN NF1 OCA2 POFUT1 POGLUT1 POT1 PPP1CB PRKAR1A PSENEN PTPN11 RAF1 SASH1 SOX18 SPRED1 TERF2IP TERT TP63 TYR TYRP1 UVSSA XPA XPC HP_FREQUENT_FALLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_FALLS ACTA1 ADAR ADCY5 ADSS1 ALG14 ALG2 ARG1 ARHGEF2 ARSA ASAH1 ATL1 ATP2B3 ATP6AP2 B4GALNT1 BSCL2 CACNA1A CCDC78 CFL2 CHP1 CLN8 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COX20 CRPPA CWF19L1 DAB1 DNAJC13 DPAGT1 DYM DYNC1H1 EIF4G1 FA2H FHL1 FIG4 FKRP FKTN GALC GBA1 GDAP1 GDAP2 GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GOSR2 GPHN GRIN2A GRM1 HADHA HADHB HINT1 ISCU KIF1C LAMB2 LMNB2 LRRK2 MAPT MFN2 MICU1 MPZ MRE11 MT-ATP6 MT-TE MTPAP MYPN NDRG1 NDUFA1 NEB NEFH NEFL NKX2-1 NOL3 NUDT2 NUP54 NUP62 OPA1 PANK2 PDE10A PEX1 PEX16 PI4KA PIK3R5 PLEC PMP2 PMP22 POLG POLG2 POLR3B POMT1 PRNP PSAP PYROXD1 REEP1 RNU12 RPL10 RRM2B RYR3 SCN4A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SGCA SGCG SH3TC2 SLC12A6 SLC19A3 SLC25A1 SLC25A4 SLC25A42 SMG9 SNCA SPTLC1 STIM1 TAF1 TPM2 TPM3 TTN TWNK VCP VPS13D VPS35 VWA1 HP_FREQUENT_TEMPER_TANTRUMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_TEMPER_TANTRUMS ARPC4 CLCN3 CSNK2A1 KAT5 SATB2 SETBP1 TAOK1 TLK2 HP_FRONTAL_BALDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_BALDING ABCD1 ALMS1 AP2M1 CHD2 CNBP DMPK GJA5 GJA8 NEXMIF NR3C1 PQBP1 SCN1A SLC2A1 SLC6A1 SYNGAP1 WNT4 HP_FRONTAL_CORTICAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_CORTICAL_ATROPHY CYB5A CYB5R3 GRIA3 HIVEP2 MEF2C OPHN1 PARS2 POMT2 SCYL2 SPG11 VCP VPS13A HP_FRONTAL_HIRSUTISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_HIRSUTISM CKAP2L CREBBP DLK1 EP300 FLNA MEG3 PRMT7 RTL1 SLC25A12 TASP1 HP_FRONTAL_LOBE_DEMENTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_LOBE_DEMENTIA CHCHD10 CSF1R DNAJC6 FTL HTRA2 LRRK2 MAPT PARK7 PINK1 PODXL PRKN PSEN1 SNCA SYNJ1 TBP TREM2 TYROBP UCHL1 VPS13C HP_FRONTAL_POLYMICROGYRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_POLYMICROGYRIA ADGRG1 AHI1 ARHGEF9 DYNC1H1 PPFIBP1 TUBB3 HP_FRONTAL_UPSWEEP_OF_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_UPSWEEP_OF_HAIR CAMK2A CAMTA1 CREBBP EP300 FLNA FOXP1 FRMPD4 HDAC4 HERC2 IFT140 MAGEL2 MED12 MED13L MED27 MKRN3 NPAP1 OGT POLA1 PPP2R3C PWAR1 PWRN1 SNORD115-1 SNORD116-1 TCF4 TRIO UBR1 YY1 HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY ATP1A3 CHMP2B COG4 GABRA5 GRN HSD17B10 MAPT PLA2G6 PRKAR1B PSEN1 SPG21 SQSTM1 TMEM106B TREM2 TTC26 VCP HP_FRONTOTEMPORAL_DEMENTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_DEMENTIA ABCA7 APP C9orf72 CCNF CHCHD10 CHMP2B CYLD DCTN1 FUS GRN HNRNPA1 HNRNPA2B1 MAPT PLA2G6 PRKAR1B PSEN1 PSEN2 SORL1 SQSTM1 TARDBP TBK1 TIA1 TMEM106B TOMM40 TREM2 TUBA4A UBQLN2 VCP ZFYVE26 HP_FULL_CHEEKS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULL_CHEEKS ACTB ACTG1 AFF4 AGL AIP ASXL1 ATP7A B9D1 B9D2 BICRA BMP2 BRAF CC2D2A CCDC88A CDC42BPB CDK5 CEP290 CLCF1 CLCN3 CPE CREBBP CRLF1 CSPP1 DDB1 DDX3X DLK1 DPM1 DPYD DTYMK EDN1 EEF1A2 EIF2S3 ELMO2 ELN EP300 EXTL3 EYA1 FAT4 FBN1 FGF3 FLNA GATA4 GNAI3 GNAS GNB2 GPR101 H1-4 HEATR3 HRAS HSPG2 IARS1 IDS IDUA IER3IP1 IFT122 IFT140 IFT52 INTS1 KCNH1 KDM6B KIDINS220 KIF11 KIF1A KLHL7 KMT2B KMT2E KRAS LARS1 LIFR LMNA LMX1B LTBP3 MAP2K1 MAP2K2 MAP3K7 MAPK8IP3 MEG3 MKS1 MLXIPL MOCS1 MOCS2 MTHFS NALCN NEK9 NOTCH2 NRAS OCRL PAX1 PCLO PCNT PIGB PIGN PIGQ PIK3CA PLCB4 PPP1R15B PSPH PUF60 PURA RPGRIP1 RPGRIP1L RTL1 SC5D SETD1A SETD1B SH3BP2 SH3PXD2B SHANK3 SIM1 SLC26A2 SLC29A3 SLC35A2 SLC37A4 SNX14 SON SOX11 SPTBN1 STAG2 STX16 STXBP1 TAFAZZIN TBCE TBL1XR1 TCF4 TCTN1 TCTN2 TCTN3 TECPR2 TFE3 TGDS TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRMT10A TXNDC15 UFC1 VPS33A WAC WDR19 WDR26 WDR35 YARS1 ZNHIT3 ZPR1 HP_FULMINANT_HEPATIC_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULMINANT_HEPATIC_FAILURE GFM1 HADH IL18BP KRT18 POLG2 SH2D1A XIAP HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT AAAS AARS1 AASS ABCA3 ABCB1 ABCC6 ABCD1 ABCD4 ACADVL ACOX1 ACTA1 ACTA2 ACTB ACTG2 ACTL6B ACVRL1 ADAM17 ADAMTS2 ADAMTSL2 ADAR ADAT3 ADCY6 ADD3 ADGRG1 ADH1C ADNP AFF3 AFF4 AFG3L2 AGGF1 AGO1 AGO2 AGR2 AGRN AICDA ALDH18A1 ALDH4A1 ALDOB ALG12 ALG2 ALG9 ALMS1 ALS2 AMACR AMER1 AMPD2 ANAPC1 ANKRD11 ANO1 ANXA11 AOPEP AP3B1 AP3B2 APC APC2 APOE APP AR ARCN1 ARF1 ARFGEF2 ARHGAP29 ARHGAP31 ARHGEF38 ARID2 ARNT2 ARPC1B ARSL ARV1 ARVCF ARX ASAH1 ASCC1 ASCL1 ASNS ASPA ASXL1 ASXL3 ATAD1 ATG7 ATL1 ATL3 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATP7B ATP9A ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B2M B4GALNT1 BACH2 BAP1 BAZ1B BCL10 BCL7B BICRA BLM BMP4 BMPR1A BRAF BRCA1 BRCA2 BRD4 BUD23 C4A CACNA1A CACNA1B CACNA1C CACNA1G CACNA1I CACNA2D1 CAD CALR CAMK2A CAMK2B CAMTA1 CARD10 CARD11 CARD8 CARMIL2 CARS2 CASP10 CASZ1 CAV1 CAVIN1 CBL CBS CCDC22 CCDC47 CCN2 CCND1 CCR1 CCR6 CD109 CD3E CD3G CD55 CDC6 CDC73 CDH1 CDK13 CDK19 CDK4 CDKL5 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CELF2 CENPT CEP85L CFTR CHAMP1 CHAT CHCHD10 CHD7 CHMP1A CHRNA1 CHRNA3 CHRND CHRNE CIITA CISD2 CLCA4 CLCN1 CLCN4 CLIP2 CLMP CLN3 CLN8 CLP1 CLPB CLTC CNKSR2 CNTNAP1 COBLL1 COG4 COG6 COG7 COL13A1 COL17A1 COL1A1 COL2A1 COL3A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COLQ COMT COQ2 COQ4 CORIN CORO1A COX11 CPLX1 CPOX CPSF3 CREBBP CRLF1 CRYAB CSF1R CSPP1 CTBP1 CTC1 CTCF CTHRC1 CTLA4 CTNNB1 CTNS CYBC1 CYFIP2 CYP27A1 CYP7B1 DAB1 DALRD3 DAXX DCLRE1B DCLRE1C DCTN1 DCTN4 DCX DDB1 DDC DDHD2 DDIT3 DDOST DEAF1 DEF6 DES DGUOK DHCR7 DHDDS DISP1 DKK1 DLG1 DLL1 DLL4 DLX4 DMPK DNAAF4 DNAJB6 DNAJC13 DNAJC30 DNASE2 DNM1 DNM1L DOCK2 DOCK6 DOCK8 DPH5 DPP9 DPYSL5 DSG1 DSP DST DTYMK DYRK1A DYSF DZIP1L EBF3 ECE1 ECM1 EDEM3 EDN3 EDNRA EDNRB EEF1A2 EGFR EHMT1 EIF4G1 EIF4H EIF5A ELANE ELF4 ELN ELP1 ENG ENPP1 EOGT EP300 EPCAM EPG5 EPRS1 ERAP1 ERBB2 ERBB3 ERCC2 ERCC6 ERCC8 ERLIN2 ERMARD EWSR1 EXOSC5 EXOSC9 EXT1 EXT2 F10 F11 F13A1 F13B F2 F5 F7 F8 F9 FA2H FAH FAM13A FAN1 FARS2 FARSB FAS FASLG FBN1 FBXL4 FBXO28 FBXO7 FBXW7 FCGR2A FCGR2C FCHO1 FCN3 FCSK FERMT1 FGA FGB FGF10 FGF12 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FGG FH FIG4 FKBP6 FKRP FLAD1 FLCN FLII FLNA FLNC FLT1 FLVCR1 FMR1 FNIP1 FOXG1 FOXH1 FOXP2 FOXP3 FRG1 FTL FUS FXN FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GAS1 GBA1 GBA2 GCDH GCH1 GCLC GDAP2 GDF2 GDNF GEMIN4 GFAP GFI1 GFI1B GFPT1 GIGYF2 GIPC1 GJB1 GLA GLB1 GLI2 GLRA1 GLRB GLUD2 GLYCTK GMNN GMPPA GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNS GON7 GOSR2 GP1BA GP1BB GP9 GPHN GPIHBP1 GPR35 GRB10 GREM1 GRHL2 GRHL3 GRIA1 GRIN1 GRIN2D GRM1 GRM7 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 GUCY2C H3-3A H3-3B H4C5 HACD1 HCN1 HDAC8 HECTD4 HEPACAM HEXB HFE HGSNAT HIRA HIVEP2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMGA2 HMOX1 HNRNPH1 HNRNPH2 HNRNPK HOXB1 HPCA HPDL HPGD HPRT1 HPS1 HRAS HSD17B10 HSD3B7 HSPG2 HTRA1 HTRA2 HTT IARS1 IARS2 IDH1 IDH2 IDS IFIH1 IFNGR1 IKBKG IKZF1 IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12B IL12RB1 IL21 IL21R IL23R IL37 IL6 IL6ST IL7R INAVA IPO8 IQSEC2 IRF2BPL IRF4 IRF5 IRF6 IRF9 IRGM ITCH ITGA2 ITGA2B ITGA7 ITGB3 IVNS1ABP JAG1 JAK1 JAK2 JAK3 JMJD1C KAT6A KAT6B KATNB1 KBTBD13 KCNA2 KCNAB2 KCNB1 KCNC3 KCND3 KCNH1 KCNK9 KCNN4 KCNQ2 KCNQ3 KIAA0319L KIAA0586 KIF1A KIF23 KIF26A KIF5A KIT KLHL40 KLHL41 KLHL7 KLRC4 KMT2A KMT2B KMT2C KMT2D KNSTRN KRAS KY LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LBR LETM1 LIFR LIG3 LIMK1 LMAN1 LMNA LMNB1 LMOD1 LMOD3 LMX1B LONP1 LRBA LRP12 LRP5 LRPPRC LRRK2 LTBP4 LUZP1 LYRM4 MACF1 MADD MAGEL2 MAN2B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPT MASP2 MATR3 MB MBD5 MCEE MCFD2 MCOLN1 MDM2 MECP2 MECR MED12 MED12L MED17 MED25 MEFV MEGF10 MEIS2 MEN1 METTL27 MFF MGAT2 MGME1 MID1 MIF MINPP1 MITF MLH1 MLH3 MLX MLXIPL MMEL1 MMP1 MMP23B MNX1 MPI MPL MPZ MRPS25 MRPS28 MRPS34 MSH2 MSH6 MSL3 MSR1 MST1 MSX1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTHFS MTRFR MUC5B MUSK MVK MYC MYD88 MYH11 MYH14 MYH2 MYH8 MYL2 MYL9 MYLK MYMK MYO1H MYO9A MYORG MYOT MYPN NAA10 NACC1 NALCN NBN NCAPG2 NCF1 NCF4 NDE1 NDUFA13 NDUFA6 NDUFA9 NDUFAF2 NDUFS1 NDUFS3 NEB NECAP1 NECTIN1 NEDD4L NEFH NEFL NEK1 NEPRO NEU1 NEUROD2 NEXMIF NF1 NF2 NFIX NFKB2 NFKBIA NGLY1 NIPBL NLRC4 NOD2 NODAL NONO NOP56 NOS1 NOTCH1 NOTCH2NLC NOTCH3 NPC1 NPC2 NPHS1 NR4A2 NRCAM NRTN NRXN1 NSD1 NSD2 NSRP1 NTNG1 NTRK1 NTRK2 NUP214 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OCRL OPA1 OPLAH OPTN ORC1 ORC4 ORC6 P4HA2 PABPN1 PACS1 PACS2 PAK1 PALB2 PALLD PANK2 PARN PARS2 PAX7 PCGF2 PCNA PDE8B PDGFRA PDGFRB PDHA1 PDP1 PDPN PEX1 PEX16 PFN1 PGM3 PHGDH PHIP PHOX2B PI4KA PIEZO1 PIEZO2 PIGA PIGN PIGT PIGY PIK3CA PIK3CD PIK3CG PIK3R5 PKHD1 PLA2G6 PLAA PLCG2 PLCH1 PLEC PLIN4 PLOD1 PLP1 PLVAP PLXND1 PMP22 PMS1 PMS2 PNKD PNP POGZ POLA1 POLG POLG2 POLR2A POLR3A POLR3B POR PORCN POT1 POU2AF1 PPM1D PPOX PPP3CA PRDM12 PRDM13 PRDM16 PRDX3 PRF1 PRKCD PRKCG PRKCSH PRKCZ PRKRA PRMT7 PRNP PRPH PRPS1 PRTN3 PRUNE1 PSAP PSEN1 PSPH PSTPIP1 PTCH1 PTEN PTPN22 PTS PUF60 PUS3 PYCR1 PYGM PYROXD1 QDPR RABL3 RACGAP1 RAD21 RAI1 RARS1 RARS2 RASGRP1 RBCK1 RBPJ RECQL4 REEP1 REL RELN REPS1 RERE RET RETREG1 REV3L RFC2 RFX5 RFXANK RFXAP RHBDF2 RIC1 RILPL1 RIPK1 RLIM RNASEH1 RNF125 RNF170 RNU4ATAC RPL10 RPL11 RPS20 RREB1 RRM2B RTEL1 RUNX1 SACS SALL1 SAMD9 SATB1 SATB2 SCARB2 SCN3A SCN4A SCN8A SCN9A SCUBE3 SDHA SDHB SDHC SDHD SEC23A SEC24C SEC31A SEC63 SELENON SEMA3C SEMA3D SEMA3E SEMA4A SEMA4D SEPSECS SERPINA1 SERPINE1 SERPING1 SETBP1 SETD2 SETX SFTPA1 SFTPA2 SFTPC SGO1 SH2B1 SH3KBP1 SHANK3 SHH SIAH1 SIGMAR1 SIK1 SIN3A SIX3 SKI SKIC2 SKIC3 SLC11A1 SLC12A2 SLC13A5 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A13 SLC25A22 SLC25A24 SLC25A4 SLC26A9 SLC2A10 SLC2A3 SLC35A2 SLC35C1 SLC37A4 SLC38A3 SLC44A1 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SLC6A14 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC9A3 SLC9A6 SLCO2A1 SMAD3 SMAD4 SMARCA2 SMC1A SMC3 SMC5 SMG9 SMO SNAP25 SNCA SNCAIP SNRPB SOD1 SON SOX10 SOX5 SP110 SPART SPATA5 SPEN SPG11 SPG21 SPG7 SPIB SPINK5 SPOP SPTAN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A3 SREBF1 SRP19 SRP54 SRPX2 SRSF2 SSR4 STAC3 STAG1 STAG2 STAT1 STAT3 STAT4 STIL STK11 STN1 STOX1 STUB1 STX11 STX1A STXBP1 STXBP2 SUCLA2 SUCLG1 SUPT16H SYK SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TAF1 TANGO2 TAOK1 TARDBP TBC1D23 TBC1D24 TBCD TBCE TBK1 TBL2 TBP TBX1 TBX4 TCEAL1 TCF4 TCIRG1 TDGF1 TECPR2 TEK TERC TERT TET2 TFAP2A TFG TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM6 TIMM22 TIMM8A TK2 TLR4 TMEM270 TMEM94 TMTC3 TNFAIP3 TNFRSF13B TNFRSF1A TNFSF15 TNNT1 TNPO3 TNXB TOM1 TOP3A TOR1A TP53 TP63 TPM2 TPM3 TPP1 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TREM2 TREX1 TRIO TRIP4 TRMT10C TRPV6 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSPYL1 TTBK2 TTC19 TTC26 TTC7A TUBB4A TUBB6 TWIST1 TWNK TXN2 TYMP TYMS TYROBP UBA5 UBAC2 UBB UBE3A UBE4B UBQLN2 UBR7 UBTF UCHL1 UFC1 UFD1 UNC13D UNC45A UNC45B USP7 USP9X VAC14 VAMP1 VAPB VARS1 VCP VPS11 VPS13A VPS33A VPS35 VPS35L VPS37D VRK1 VWF WAC WARS2 WAS WASHC5 WDR26 WFS1 WIPF1 WNK1 WT1 WWOX XIAP XRCC1 XYLT1 XYLT2 YARS2 YWHAG YY1 ZAP70 ZBTB18 ZBTB7A ZC4H2 ZEB2 ZFYVE26 ZIC2 ZMYM2 ZNF699 ZSWIM6 HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR AAAS AARS1 ABCA4 ABCC1 ABCC6 ABCC9 ABCD1 ABHD12 ABHD5 ACO2 ACOX1 ACTB ACTC1 ACTG1 ACTN2 ACVR1 ACY1 ADA2 ADAMTSL1 ADCY1 ADGRV1 ADK ADPRS AFF4 AGBL5 AGRN AHI1 AHR AIFM1 AIP ALDH18A1 ALG11 ALG12 ALG2 ALMS1 AMMECR1 ANKH ANKRD1 ANOS1 AP1B1 AP1S1 AP1S2 AP3D1 ARHGDIA ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARNT2 ARSA ARSG ARSL ARX ASAH1 ASCL1 ASH1L ATG7 ATP11A ATP1A2 ATP1A3 ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP7A ATPAF1 ATPAF2 ATRX ATXN3 B3GALT6 BAG3 BAG5 BAZ1B BBS1 BBS2 BCAP31 BCL7B BCOR BCR BCS1L BDP1 BEAN1 BEST1 BICRA BMP4 BRAF BRD4 BSND BTD BTK BTRC BUD23 C1QBP C4A CA4 CACNA1A CACNA1G CACNB4 CALM1 CALM2 CALM3 CAP2 CARS1 CASK CASQ2 CASZ1 CAT CATSPER2 CBL CC2D2A CCBE1 CCDC141 CCDC50 CCND1 CCR1 CD109 CD151 CD164 CDC14A CDC42 CDC42BPB CDC45 CDH11 CDH23 CDHR1 CDK5RAP2 CDK8 CDON CEACAM16 CEP250 CEP78 CERKL CFAP418 CHAT CHCHD10 CHD7 CHN1 CHSY1 CIB2 CISD2 CLCN3 CLCNKA CLCNKB CLDN14 CLDN9 CLIC5 CLIP2 CLPP CLRN1 CLRN2 CLTC CNGA1 CNGB1 CNNM2 CNOT1 CNOT3 COA8 COCH COG4 COG5 COG7 COL11A1 COL11A2 COL13A1 COL25A1 COL27A1 COL2A1 COL3A1 COL4A3 COL4A5 COL4A6 COL9A1 COL9A2 COL9A3 COQ2 COQ6 COX10 COX11 COX16 CPLX1 CRB1 CREBBP CRKL CRLS1 CRX CRYAB CRYM CSPP1 CSRP3 CTBP1 CTLA4 CTNNB1 CYP7B1 DAB1 DBH DCAF17 DCC DCDC2 DCHS1 DDB2 DES DGUOK DHCR7 DHDDS DHX16 DHX38 DIABLO DIAPH1 DIAPH3 DISP1 DKK1 DLL1 DLST DLX5 DLX6 DMD DMP1 DMXL2 DNAJC19 DNAJC3 DNAJC30 DNASE1L3 DNM1L DNMT1 DNMT3A DNMT3B DOLK DSG2 DSP DSPP DTYMK DUOX2 DUOXA2 DUSP6 DUX4 DUX4L1 DVL1 EBP ECE1 EDC3 EDN3 EDNRB EFNB1 EIF3F EIF4H ELAC2 ELMO2 ELMOD3 ELN ELOVL1 ENPP1 EP300 EPAS1 EPG5 EPOR EPRS1 EPS15L1 ERAL1 ERAP1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN ESRP1 ESRRB EYA1 EYA4 EYS FAM149B1 FAM161A FAM20C FAR1 FAS FAT4 FBN1 FBXW4 FBXW7 FEZF1 FGF10 FGF14 FGF17 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL2 FIBP FIG4 FIP1L1 FITM2 FKBP14 FKBP6 FKTN FLI1 FLNA FLNB FLRT3 FOXC1 FOXH1 FOXI1 FOXP2 FOXRED1 FRG1 FSCN2 FTO FUS FXN G6PC3 GAB1 GABRD GALE GALK1 GAS1 GATA2 GATA3 GATA4 GATA5 GATA6 GATAD1 GBA1 GBA2 GCDH GCGR GDF5 GDF6 GDNF GFER GGPS1 GIPC1 GIPC3 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB6 GJC2 GLA GLI2 GLI3 GLIS3 GLYCTK GMPPA GMPPB GNAS GNB1 GNPTAB GNRH1 GNRHR GP1BA GP1BB GPC4 GPSM2 GRAP GREB1L GRHL2 GRXCR1 GRXCR2 GSDME GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D GUSB GYG1 HAAO HACE1 HAND2 HARS1 HARS2 HAX1 HDAC4 HDAC8 HESX1 HGF HGSNAT HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNRNPK HOMER2 HOXA1 HOXA11 HOXA2 HOXB1 HS2ST1 HS6ST1 HSD17B10 HSD17B4 HSPG2 HTRA2 IARS1 IARS2 IDH3A IDH3B IDS IDUA IFNGR1 IFT140 IFT172 IFT88 IGBP1 IGF1 IL10 IL12A IL12A-AS1 IL17RD IL23R ILDR1 IMPDH1 IMPG1 IMPG2 INF2 IRF2BP2 IRX5 ITGA2 ITGA2B ITGB3 IYD JAG1 JAK2 JPH2 JUP KARS1 KCNA1 KCNA5 KCNAB2 KCNE1 KCNE2 KCNH1 KCNJ10 KCNJ16 KCNJ2 KCNJ3 KCNJ5 KCNMA1 KCNN3 KCNQ1 KCNQ2 KDM6A KIAA0586 KIAA1549 KIF1B KIF21A KIF7 KISS1 KISS1R KITLG KIZ KLHL7 KLRC4 KMT2D KRAS KYNU LAMA4 LARS1 LARS2 LDB3 LETM1 LHFPL5 LHX3 LHX4 LIG3 LIMK1 LMNA LMNB1 LMOD2 LMX1B LONP1 LORICRIN LOXHD1 LRAT LRP12 LRP2 LRP4 LRP5 LRTOMT LUZP1 LZTR1 MAF MAFB MAK MAN2B1 MAP1B MAP2K1 MAP3K20 MAP3K7 MAPK1 MARS1 MARS2 MARVELD2 MAX MBTPS2 MCM2 MDH2 MECOM MED12 MEFV MEGF8 MEN1 MEOX1 MERTK MET METTL27 MFN2 MGAT2 MIA3 MICOS13 MINAR2 MIR96 MITF MLXIPL MMP23B MOGS MPDZ MPEG1 MPL MPLKIP MPZ MPZL2 MRAS MRPS2 MRPS28 MRPS7 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTSS2 MVK MYBPC3 MYCN MYD88 MYH11 MYH14 MYH6 MYH7 MYH9 MYL2 MYL4 MYMK MYO15A MYO3A MYO6 MYO7A MYO9A MYPN NABP1 NAGA NARS2 NAXD NCAPG2 NCF1 NDE1 NDNF NDP NDRG1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEDD4L NEFL NEK2 NEU1 NEXN NF1 NF2 NHLH2 NIPBL NKX2-1 NKX2-5 NKX2-6 NLRP12 NLRP3 NMNAT1 NODAL NOG NOP56 NOTCH2NLC NOTCH3 NPM1 NPPA NR2E3 NRAS NRL NRTN NSD2 NSMF NUBPL NUMA1 NUP155 ODC1 OFD1 OPA1 OSBPL2 OTOA OTOF OTOG OTOGL OTX2 P2RX2 P4HA2 PAX1 PAX2 PAX3 PCARE PCDH15 PCNA PCNT PDE1C PDE6A PDE6B PDE6G PDGFB PDGFRB PDK3 PDPN PDZD7 PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGM3 PHEX PHOX2A PHOX2B PHYH PIGV PIK3C2A PIK3R1 PISD PITX2 PJVK PLAA PLCH1 PLN PLOD3 PLS1 PML PMP22 PNP PNPLA2 PNPLA6 PNPT1 POGZ POLD1 POLG POMGNT1 POMK PORCN POU1F1 POU3F4 PPCS PPIP5K2 PPP1R15B PPP2R3C PRCD PRDM12 PRDM16 PRDM5 PRF1 PRG4 PRKAR1A PRKCZ PRKDC PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRTN3 PSAP PSEN1 PSEN2 PTCH1 PTDSS1 PTPN11 PTPN22 PTPRQ PTRH2 PUS3 PUS7 RAB23 RAC1 RAD21 RAF1 RARA RASA2 RBM20 RBM8A RBMX RBP3 RDH12 RDH5 RDX RECQL4 REEP6 RERE REST RET RFC1 RFC2 RFT1 RGR RHO RILPL1 RIPOR2 RIT1 RLBP1 RNASET2 RNF113A RNF13 RNF220 RNU12 ROBO1 ROBO3 ROM1 ROR1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL3L RPS28 RPS6KA3 RRAS RRAS2 RRM2B RTTN RYR1 RYR2 S1PR2 SAG SALL1 SALL4 SARDH SBF2 SCAPER SCD5 SCN1A SCN1B SCN2A SCN2B SCN3B SCN4B SCN5A SDHA SDHAF2 SDHB SDHC SDHD SELENOI SEM1 SEMA3A SEMA3C SEMA3D SEMA4A SERAC1 SETBP1 SETD2 SF3B2 SGCD SGMS2 SGPL1 SH2B1 SH2B3 SH3TC2 SHH SIN3A SIX1 SIX3 SIX6 SKI SLC12A2 SLC12A3 SLC17A8 SLC18A3 SLC19A2 SLC1A3 SLC25A1 SLC25A11 SLC25A4 SLC26A4 SLC26A5 SLC29A3 SLC30A9 SLC35A2 SLC39A14 SLC39A7 SLC44A4 SLC4A11 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC7A14 SLC9A1 SLITRK6 SMC1A SMC3 SMCHD1 SMO SMPX SNAI2 SNAP25 SNAP29 SNRNP200 SNX14 SOS1 SOS2 SOST SOX10 SOX2 SOX3 SOX6 SPATA5 SPATA5L1 SPATA7 SPEN SPNS2 SPRED2 SPRY4 SPTBN1 SPTBN4 SPTLC1 SQSTM1 SREBF1 SRP72 STAG2 STAT3 STAT4 STAT5B STIL STRC STX11 STX1A STXBP2 SUCLA2 SUCLG1 SUFU SUMF1 SURF1 SYNE4 SYT2 TAC3 TACR3 TAF1A TAFAZZIN TANGO2 TAOK1 TARDBP TARS1 TBC1D24 TBCK TBK1 TBL1XR1 TBL1Y TBL2 TBX22 TCAP TDGF1 TDO2 TECRL TECTA TET2 TFAP2A TG TGIF1 THOC1 THOC2 THPO TIMM8A TIMMDC1 TK2 TLR4 TMC1 TMEM126A TMEM126B TMEM127 TMEM132E TMEM147 TMEM270 TMEM38B TMEM67 TMPO TMPRSS3 TNC TNFRSF11B TNFRSF1A TNNC1 TNNI3 TNNT2 TOP3A TOPORS TP63 TPK1 TPM1 TPM2 TPO TPRN TRAPPC11 TRAPPC4 TRDN TRIOBP TRMT10A TRMT10C TRNT1 TRPM4 TRPV3 TRPV4 TRRAP TSPEAR TTC8 TTN TTR TUB TUBA1A TUBB2B TUBB3 TUBB4B TULP1 TWIST1 TWNK TXNRD2 TYMP TYR UBA1 UBAC2 UBE4B UBR1 UNC13D UQCC2 USH1C USH1G USH2A USP48 VAMP1 VCL VCP VEZF1 VHL VPS11 VPS13B VPS33B VPS37D VPS4A VSX1 WAC WDR11 WDR37 WDR81 WFS1 WHRN WNT10B XPA XPC XPNPEP3 XRCC4 XYLT2 YAP1 YARS1 ZBTB16 ZEB2 ZIC1 ZIC2 ZMPSTE24 ZNF408 ZNF469 ZNF513 ZNF699 HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR ABCA4 ABCC6 ACVR1 ADAMTS3 AFF4 AGBL5 AHI1 AHR AIFM1 ALX1 ALX3 AMER1 AMMECR1 ANKH ANKRD11 APC2 ARHGAP29 ARHGEF18 ARHGEF38 ARID2 ARL2BP ARL3 ARL6 ARSL ARVCF B3GALT6 B3GLCT BBS1 BBS2 BEST1 BMP2 BMP4 BPTF BRD4 CA2 CA4 CACNA1B CASZ1 CC2D2A CCBE1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDCA7 CDH1 CDH11 CDHR1 CDK5RAP2 CERKL CFAP221 CFAP298 CFAP300 CFAP418 CFAP74 CHD7 CHRNG CLRN1 CNGA1 CNGB1 CNOT1 CNOT3 COBLL1 COG1 COL11A2 COL1A2 COL2A1 COMT CPLANE1 CPLX1 CRB1 CREB3L1 CREBBP CRX CTBP1 CTNND1 CTSK DCHS1 DDR2 DEAF1 DHDDS DHODH DHX38 DIAPH3 DLG1 DLST DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNMT3A DRC1 DVL1 EDN1 EDNRA EFTUD2 EIF5A ELMO2 ELMOD3 ENPP1 EP300 EPAS1 ERCC6 ERCC8 ERF EXT1 EYA1 EYS FAM149B1 FAM161A FAM20C FANCF FANCI FAT4 FBN1 FBXW7 FGF10 FGF9 FGFR2 FGFR3 FGFRL1 FH FKBP14 FLII FLNA FLNB FOXJ1 FRAS1 FREM2 FSCN2 GABRD GALNT2 GAS2L2 GAS8 GATA1 GDF5 GDF6 GJA1 GJB2 GJB6 GMNN GNPTAB GP1BB GRHL3 GRIP1 GSC GUCA1B HAX1 HDAC4 HDAC8 HGSNAT HIRA HLA-B HLA-DRB1 HNRNPK HOXA2 HSPG2 HYDIN IDH3A IDH3B IDS IFT140 IFT172 IFT88 IGBP1 IL11RA IMPDH1 IMPG1 IMPG2 IQSEC2 IRF6 JMJD1C KCNAB2 KDM6A KIAA0753 KIAA1549 KIF1B KIF7 KIZ KLHL7 KMT2D LETM1 LMNA LONP1 LRAT LRP5 LRRC56 LUZP1 MAK MAN2B1 MAP3K7 MASP1 MAX MCIDAS MDH2 MEOX1 MERTK MMP23B MPDU1 MSX1 MYCN MYH3 NECTIN1 NEK1 NEK10 NEK2 NF1 NFIX NIPBL NME5 NME8 NOG NOTCH2 NOTCH2NLC NOTCH3 NR2E3 NRL NSD1 NSD2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OSTM1 OTOF P4HA2 PAX1 PCARE PCGF2 PDE6A PDE6B PDE6D PDE6G PDGFRA PDPN PGM3 PIGL PIK3C2A POLR1B POLR1C POLR1D POMGNT1 POR PORCN POU3F4 PRCD PRDM16 PRDM5 PRKCZ PROM1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PSMD12 PTPN22 RAB23 RAD21 RAI1 RBP3 RDH12 RECQL4 REEP6 RERE RET RGR RHO RIC1 RLBP1 ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPS23 RPS26 RPS28 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SAG SALL4 SC5D SCAPER SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4A SETD2 SF3B2 SF3B4 SGMS2 SH2B1 SIX1 SKI SLC25A11 SLC25A24 SLC35C1 SLC7A14 SMC1A SMC3 SMCHD1 SNRNP200 SNRPB SOST SOX9 SP7 SPAG1 SPATA7 SPEF2 SPEN SRCAP STAC3 STK36 TBX1 TBX22 TCOF1 TCTN3 TELO2 TFAP2A TMEM127 TMEM216 TMEM67 TNFRSF11A TOPORS TP63 TRPS1 TSHZ1 TSR2 TTC12 TTC8 TUB TULP1 TWIST1 TXNL4A UBB UBE4B UFD1 USH2A VARS1 VHL ZBTB20 ZMPSTE24 ZMYND10 ZNF408 ZNF469 ZNF513 ZNF699 HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION BRCA1 BRCA2 CDKN2A ERBB3 KRAS PALB2 PALLD RABL3 SMAD4 TP53 HP_FUNCTIONAL_MOTOR_DEFICIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_MOTOR_DEFICIT AARS1 ABCC8 ABCD1 ABHD5 ACOX1 ACTA1 ACTL6B ADAR ADCY5 ADSS1 AGK AGRN AIP AK9 AKT1 AKT3 ALAD ALG14 ALG2 ALS2 ANO5 AOPEP AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARG1 ARHGEF2 ARL6IP1 ARSA ARSI ARV1 ASAH1 ASPA ATL1 ATP13A2 ATP13A3 ATP1A2 ATP1A3 ATP2A1 ATP2B3 ATP5MC3 ATP6AP2 ATP6V1A ATP7B B4GALNT1 BAG3 BAP1 BICD2 BIN1 BRCC3 BSCL2 BVES CACNA1A CACNA1B CACNA2D1 CALR CAPN1 CAPN3 CASQ1 CCDC78 CCDC88C CCN6 CDH23 CDK19 CDK8 CDKL5 CELF2 CFL2 CHAT CHCHD10 CHP1 CHRNA1 CHRNB1 CHRND CHRNE CHST11 CIZ1 CLN8 CLTC CNKSR2 COASY COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COX20 COX7B CPT1C CRPPA CRYAB CSF1R CWF19L1 CYFIP2 CYP27A1 CYP27B1 CYP2R1 DAB1 DAG1 DALRD3 DARS2 DCC DDHD1 DDX6 DES DHDDS DHTKD1 DLAT DMD DNA2 DNAJB6 DNAJC13 DNAL4 DNM1 DNM1L DNM2 DOK7 DPAGT1 DYM DYNC1H1 DYSF EEF1A2 EIF2AK3 EIF2S3 EIF4G1 ELOVL5 EPHB4 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 EXT1 EXT2 FA2H FAR1 FBXO28 FBXO38 FDX2 FGF12 FGF13 FGF14 FHL1 FIG4 FKBP14 FKRP FKTN FLNC FLRT1 FTL FUS FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAN GBA1 GBA2 GBF1 GDAP1 GDAP2 GFPT1 GIGYF2 GIPC1 GJB1 GJC2 GLE1 GLRA1 GMPPB GNS GOSR2 GPAA1 GPHN GPT2 GRID2 GRIN2A GRIN2D GRM1 GTPBP3 GYG1 HACD1 HACE1 HADHA HADHB HCCS HCN1 HERC1 HINT1 HK1 HNRNPK HPCA HSPB1 HSPB3 HTT IBA57 IFIH1 INTS1 ISCU ITGA7 ITPR3 JAK2 JPH3 KBTBD13 KCNA2 KCNB1 KCNC3 KCND3 KCNJ10 KCNQ2 KCNT1 KIF1C KLC2 KLHL41 KLHL9 KPNA3 KY LAMA2 LAMB2 LDHA LIG3 LIPE LMNB1 LMNB2 LPIN1 LRIF1 LRP12 LRP4 LRRK2 LSM11 LYSET MAP3K20 MAPT MARCHF6 MARS1 MATN3 MATR3 MECP2 MED25 MEGF10 MEN1 MFF MFN2 MGME1 MICU1 MIEF2 MORC2 MPL MPZ MRE11 MSTO1 MT-ATP6 MT-CO1 MT-CO3 MT-TE MTMR14 MTOR MTPAP MTRFR MUSK MYF6 MYH7 MYL2 MYO1H MYO9A MYOT MYPN NACC1 NARS2 NDRG1 NDUFA1 NDUFB11 NDUFS8 NEB NECAP1 NEFH NEFL NF2 NFE2L2 NKX2-1 NKX6-2 NOL3 NOP56 NOTCH2NLC NPR3 NTN1 NTNG1 NTRK1 NTRK2 NUBPL NUDT2 NUP54 NUP62 NUS1 OBSCN OCA2 OPA1 ORAI1 PACS2 PANK2 PARS2 PDE10A PDGFB PDK3 PEX1 PEX16 PEX2 PEX6 PFKM PGAP1 PI4KA PIGA PIK3CA PIK3R5 PKP1 PLCB1 PLEC PLEKHG5 PLP1 PMP2 PMP22 PNPLA2 POLG POLG2 POLR3B POMGNT1 POMK POMT1 POMT2 POPDC3 PPP3CA PRF1 PRKAR1A PRNP PRX PSAP PUS3 PYCR2 PYROXD1 RAB11B RAD51 RAPSN RARS1 RASA1 REEP1 RILPL1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 RPL10 RRM2B RSPRY1 RTN2 RYR1 RYR3 SACS SAMHD1 SBF2 SCN1A SCN2A SCN3A SCN4A SCN8A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SELENOI SELENON SETX SFXN4 SGCA SGCB SGCD SGCG SH3TC2 SIGMAR1 SLC12A5 SLC12A6 SLC13A5 SLC18A3 SLC19A3 SLC1A2 SLC25A1 SLC25A19 SLC25A22 SLC25A4 SLC25A42 SLC2A3 SLC30A10 SLC30A9 SLC34A3 SLC38A3 SLC5A7 SLC7A6OS SLC9A7 SMARCB1 SMARCE1 SMC1A SMG9 SMO SMS SNAP25 SNCA SORD SPART SPAST SPEG SPG11 SPG21 SPTLC1 SQSTM1 STIM1 STRADA STUB1 STX11 STXBP2 SUFU SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TBC1D23 TBC1D24 TBCE TBK1 TCAP TDP2 TERT TET2 TFG TGFB1 TGM6 TIA1 TICAM1 TK2 TLR3 TMEM126B TNNT1 TNPO3 TOR1AIP1 TPK1 TPM2 TPM3 TPP1 TRAF3 TRAF7 TRAK1 TRAPPC11 TREX1 TRMT5 TRPV4 TTBK2 TTN TWNK TYMP UBA5 UBAP1 UBE3A UNC13D UNC93B1 USP9X VAMP1 VAPB VCP VDR VMA21 VPS13A VPS13D VPS35 VWA1 WARS1 WARS2 WASHC5 WDR48 WDR62 WWOX YARS1 YWHAG HP_FUNDUS_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNDUS_ATROPHY C1QTNF5 GUCY2D PCARE RP2 RPE65 HP_FURROWED_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FURROWED_TONGUE AKT1 B9D1 B9D2 CC2D2A CEP290 CSPP1 ECEL1 GJB2 GPC3 GPC4 HNRNPK IL36RN INSR KDM5C KLLN KRT6A MED25 MKS1 PIK3CA PTEN RAB3GAP1 RAB3GAP2 RERE RPGRIP1 RPGRIP1L SDHB SDHC SDHD SEC23B SLC39A4 SOX5 SREBF1 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 USF3 HP_FUSED_CERVICAL_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSED_CERVICAL_VERTEBRAE ABCC6 ACVR1 AEBP1 AFF4 ASH1L ASXL2 BRPF1 CDH11 CHD4 CHRNG COL2A1 DCC DKK1 DNAL4 ENPP1 FANCI FGFR2 FLNA FLNB GDF3 GDF6 IL1RN MAP3K7 MEOX1 MYH3 MYO18B NOG NTN1 PUF60 RAD51 RBM8A SALL4 WBP11 HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES FKRP GMPPB POMGNT1 POMK POMT1 POMT2 HP_GAIT_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_ATAXIA AARS1 AASS ABCA2 ACOX2 ADAR ADSL AFG3L2 ALDH18A1 ANO10 AP1S2 AP2M1 APTX ARCN1 ARID1B ARSA ATAD3A ATCAY ATN1 ATP13A2 ATP1A2 ATP1A3 ATXN10 ATXN2 ATXN3 ATXN8OS B9D1 BEAN1 BRAT1 BSCL2 C12orf4 CACNA1A CACNA1G CACNA2D2 CAMTA1 CAPN1 CARS1 CAV1 CCDC88C CDKL5 CHAMP1 CHMP1A CIITA CLCN2 CLN8 COA7 COQ2 CP CTBP1 CTSF CUL4B CWF19L1 DCPS DEAF1 DKK1 DNAJC3 DNAJC6 DOCK3 EBF3 EEF2 EIF2AK2 EIF2S3 ELOVL4 ELOVL5 ERBB3 ERCC2 ERCC3 ERMARD FA2H FAT2 FBXO28 FDXR FGF14 FLVCR1 FMR1 FXN FZR1 GABBR2 GABRA1 GABRG2 GBA2 GCH1 GDAP2 GJB1 GPAA1 GRIA2 GRID2 GRIK2 GRIN2A GRM1 GTF2E2 GTF2H5 GTPBP2 HERC1 HEXB HLA-DQB1 HPDL HSD17B4 HTT IFRD1 IMPDH2 IQSEC1 ITPR1 KCNC3 KCND3 KDM5B KIF1C LARS2 LETM1 LITAF LMNB1 LMNB2 LNPK MAB21L1 MAN2B1 MARS2 MECP2 MME MORC2 MPLKIP MPZ MRE11 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTPAP MTTP NAA20 NARS1 NAXD NEFL NOP56 NPC1 NR4A2 NTNG1 NUP54 NUP62 NUS1 OGDH OPHN1 PAK1 PCDH19 PCNA PDP1 PDYN PEX10 PEX16 PEX6 PIGG PIGL PLA2G6 PLD3 PMP22 PMPCA PNPLA6 PNPT1 PODXL POLG POLG2 POLR3B POU3F4 PPP1R15B PPP1R21 PPP2R1A PPP2R5D PRDM13 PRDX3 PRKCG PRNP PRRT2 PRX PSAP RAB11B RFC1 RFX5 RFXANK RFXAP RNF113A RNU12 RPL10 RRM2B RUBCN SACS SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SCYL1 SDHA SETX SH3TC2 SIL1 SLC19A3 SLC25A4 SLC25A46 SLC9A1 SLC9A6 SMARCA2 SMC1A SNRPN SPG7 SPTBN2 SQSTM1 STUB1 SYNE1 SYNJ1 TANGO2 TARS1 TBC1D24 TBC1D2B TBP TCF4 TECPR2 TGM6 TH THG1L TMEM106B TMEM163 TMEM240 TPK1 TPP1 TPR TRAPPC6B TRIO TRPC3 TSPOAP1 TTBK2 TTC19 TUBB4A TWNK UBA5 UBE3A UBTF UCHL1 UROC1 VLDLR VPS13D VPS41 VPS51 WDR26 WDR81 WWOX XRCC1 HP_GAIT_DISTURBANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_DISTURBANCE AARS1 AASS ABCA2 ABCD1 ABHD16A ABHD5 ACAN ACBD5 ACOX1 ACOX2 ACTA1 ACTB ACTL6B ACTN2 ADAM22 ADAR ADAT3 ADCY5 ADGRG1 ADH1C ADSL ADSS1 AFG3L2 AGRN AGTPBP1 AHI1 AIFM1 AIMP2 AKT1 ALAD ALDH18A1 ALDH4A1 ALG14 ALG2 ALPL ALS2 AMPD2 ANO10 ANO5 ANOS1 AOPEP AP1S2 AP2M1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APOE APP APTX AR ARCN1 ARG1 ARID1B ARL13B ARL3 ARL6 ARL6IP1 ARMC9 ARSA ARSI ARV1 ARX ASAH1 ASPA ASXL1 ASXL3 ATAD1 ATAD3A ATCAY ATL1 ATL3 ATM ATN1 ATP10A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B3 ATP5F1D ATP5MC3 ATP6AP2 ATP6V1A ATP7A ATP7B ATP8A2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS B3GALNT2 B4GALNT1 B9D1 B9D2 BAG3 BAP1 BAZ1B BBS1 BCAS3 BCL11A BCL11B BCL7B BCORL1 BEAN1 BGN BICD2 BIN1 BMPR1A BRAT1 BSCL2 BUD23 BVES C12orf4 C19orf12 C4A CA8 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1I CACNA2D1 CACNA2D2 CAD CAMK2A CAMK2B CAMTA1 CANT1 CAPN1 CAPN3 CARS1 CASK CASZ1 CAV1 CBY1 CC2D2A CCDC141 CCDC28B CCDC88C CCN6 CCR1 CCT5 CDK10 CDK19 CDK8 CDKL5 CDON CELF2 CEP104 CEP120 CEP41 CERS1 CERT1 CFAP43 CFL2 CHAMP1 CHAT CHCHD10 CHCHD2 CHD2 CHD3 CHD4 CHD7 CHKA CHKB CHMP1A CHMP2B CHRND CHRNG CHST3 CIITA CIZ1 CLCN2 CLCN4 CLDN11 CLIC2 CLIP2 CLN3 CLN5 CLN8 CLTC CNKSR2 CNPY3 COA7 COA8 COASY COL10A1 COL12A1 COL13A1 COL2A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COMP COPB1 COPB2 COQ2 COQ5 COX6A1 CP CPLANE1 CPLX1 CPT1C CRAT CREBBP CRPPA CRYAB CSF1R CSPP1 CTBP1 CTNNA2 CTSF CUL4B CUX2 CWF19L1 CYFIP2 CYP27A1 CYP27B1 CYP2R1 CYP2U1 CYP7B1 DAB1 DAG1 DALRD3 DARS2 DCAF8 DCC DCPS DCTN1 DDHD1 DDHD2 DDX3X DDX6 DEAF1 DES DHDDS DHH DHPS DHTKD1 DHX16 DHX30 DISP1 DKK1 DLAT DLL1 DMD DNA2 DNAJB2 DNAJB6 DNAJC12 DNAJC13 DNAJC3 DNAJC30 DNAJC6 DNM1 DNM1L DNM2 DOCK3 DOCK7 DOHH DOK7 DPAGT1 DPM3 DPYD DSTYK DUSP6 DYM DYNC1H1 DYNC1I2 DYRK1A DYSF EBF3 EED EEF1A2 EEF2 EGR2 EIF2AK2 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 EIF4H ELN ELOVL4 ELOVL5 ELP1 EMC1 EMD ENTPD1 EP300 EPCAM EPM2A EPRS1 ERAP1 ERBB3 ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERLIN1 ERLIN2 ERMARD EXOSC5 EXT2 EXTL3 FA2H FAM149B1 FAN1 FAR1 FARS2 FAS FAT2 FBN1 FBP2 FBXO28 FBXO38 FBXO7 FCSK FDX2 FDXR FEZF1 FGD4 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FHL1 FIG4 FKBP10 FKBP14 FKBP6 FKRP FKTN FLII FLNA FLNC FLRT1 FLRT3 FLVCR1 FMR1 FN1 FNIP1 FOXH1 FOXRED1 FRRS1L FTL FUCA1 FUS FXN FZR1 GAA GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALNS GALT GAN GARS1 GAS1 GBA1 GBA2 GBE1 GBF1 GCH1 GDAP1 GDAP2 GEMIN4 GEMIN5 GFM2 GFPT1 GGPS1 GIGYF2 GIPC1 GJA1 GJB1 GJC2 GLB1 GLE1 GLI2 GLRA1 GLRB GLRX5 GLUD2 GMPPB GNAO1 GNB1 GNB2 GNB4 GNE GNPTAB GNS GOSR2 GOT2 GPAA1 GPHN GPT2 GRIA2 GRIA4 GRID2 GRIK2 GRIN1 GRIN2A GRIN2D GRM1 GRN GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GYG1 H4C5 HACD1 HACE1 HADHA HADHB HARS1 HCN1 HERC1 HERC2 HESX1 HEXB HINT1 HK1 HLA-B HLA-DQB1 HNRNPA1 HNRNPA2B1 HNRNPH1 HNRNPH2 HNRNPK HPCA HPDL HS6ST1 HSD17B10 HSD17B4 HSPB1 HSPB3 HSPD1 HSPG2 HTRA1 HTRA2 HTT HYCC1 HYLS1 IBA57 IDH1 IFIH1 IFNGR1 IFRD1 IFT74 IGHMBP2 IKBKG IL10 IL12A IL12A-AS1 IL17RD IL23R IMPDH2 INF2 INPP5E INPP5K INTS1 INTS8 IQSEC1 IQSEC2 IRF2BPL ISCU ITPR1 ITPR3 JAG1 JAG2 JARID2 JPH3 KARS1 KAT6A KATNIP KBTBD13 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC3 KCND3 KCNJ10 KCNN2 KCNQ2 KCNQ5 KCNT1 KDM5B KDM5C KIAA0586 KIAA0753 KIDINS220 KIF1A KIF1B KIF1C KIF5A KIF7 KLC2 KLHL41 KLHL9 KLRC4 KMT2A KMT2B KPNA3 KRAS KY L1CAM LAMA2 LAMB2 LAMP2 LARGE1 LARS2 LCA5 LDB3 LETM1 LIMK1 LITAF LMNA LMNB1 LMNB2 LMOD3 LMX1B LNPK LONP1 LPIN1 LRAT LRP12 LRP4 LRP5 LRPPRC LRRK2 LRSAM1 LSM11 LTBP4 LUZP1 LYRM7 LYSET LYST MAB21L1 MAFB MAG MAGEL2 MAN1B1 MAN2B1 MAP1B MAP3K20 MAPK10 MAPK8IP3 MAPT MARCHF6 MARS1 MARS2 MAST1 MATN3 MATR3 MBOAT7 MBTPS1 MCM3AP MCOLN1 MDH2 MECP2 MECR MED12 MED25 MEF2C MEFV MEGF10 METTL27 MFF MFN2 MFSD2A MGAT2 MICOS13 MICU1 MIEF2 MKS1 MLH1 MLH3 MLXIPL MMADHC MME MMP13 MMP2 MMP23B MORC2 MPLKIP MPV17 MPZ MRE11 MRPS34 MSH2 MSH6 MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFR MTM1 MTMR14 MTOR MTPAP MTR MTRFR MTRR MTTP MYF6 MYH2 MYH3 MYH7 MYO1H MYO9A MYOT MYPN NAA10 NAA20 NACC1 NARS1 NAT8L NAXD NBEA NCF1 NDNF NDRG1 NDUFA1 NDUFA6 NDUFAF2 NDUFAF6 NDUFS8 NEB NECAP1 NEFH NEFL NEU1 NEUROD2 NEXMIF NF2 NGLY1 NHLRC1 NIPA1 NKX2-1 NKX3-2 NKX6-2 NODAL NOG NOP56 NOTCH2NLC NOTCH3 NPC1 NPHP1 NPR3 NR4A2 NRXN1 NSUN2 NT5C2 NTNG1 NTNG2 NTRK1 NTRK2 NUBPL NUDT2 NUP54 NUP62 NUS1 OBSCN OCA2 OFD1 OGDH OGDHL OPA1 OPA3 OPHN1 OPTN ORAI1 OTUD6B P4HTM PABPN1 PACS1 PACS2 PAK1 PANK2 PARK7 PARS2 PAX7 PCDH15 PCDH19 PCNA PDE10A PDE2A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDHX PDK3 PDP1 PDPN PDYN PEX1 PEX10 PEX16 PEX2 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PHIP PI4KA PIBF1 PIEZO2 PIGA PIGG PIGL PIGO PIGP PIGS PIGV PIGW PIGY PIK3CA PIK3R5 PINK1 PITRM1 PKP1 PLA2G6 PLCB1 PLCH1 PLD3 PLEC PLEKHG4 PLEKHG5 PLOD1 PLP1 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A PODXL POGZ POLG POLG2 POLR3A POLR3B POMGNT1 POMT1 POMT2 POPDC3 POT1 POU3F4 POU4F1 PPM1D PPP1R15B PPP1R21 PPP2R1A PPP2R2B PPP2R5D PPP3CA PRDM13 PRDM16 PRDM5 PRDX3 PREPL PRKAR1B PRKCG PRKCZ PRKN PRKRA PRNP PROK2 PROKR2 PRPS1 PRRT2 PRUNE1 PRX PSAP PSEN1 PSMB1 PSMC1 PTCH1 PTEN PTH1R PTS PURA PUS3 PYCR2 QRICH1 RAB11B RAB18 RAB39B RAB7A RAI1 RANBP2 RAPSN RARS1 RBM10 REEP1 REEP2 RELA REPS1 RERE RFC1 RFC2 RFX5 RFX7 RFXANK RFXAP RHOBTB2 RIC1 RILPL1 RLIM RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF168 RNF170 RNU12 RNU7-1 RPE65 RPGRIP1L RPL10 RPS20 RPS6KA3 RRM2B RSPRY1 RTN2 RUBCN RUSC2 RYR1 SACS SAMD9L SAMHD1 SATB1 SATB2 SBF1 SBF2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SELENON SEMA3A SEMA4A SERAC1 SET SETX SGCA SGCB SGCD SGCG SH3TC2 SHANK3 SHH SHMT2 SHQ1 SIGMAR1 SIL1 SIM1 SIX3 SKI SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A15 SLC25A19 SLC25A21 SLC25A22 SLC25A4 SLC25A46 SLC26A2 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC33A1 SLC34A1 SLC34A3 SLC35A2 SLC35C1 SLC38A3 SLC39A13 SLC39A14 SLC39A8 SLC52A3 SLC5A7 SLC6A1 SLC6A17 SLC6A5 SLC6A8 SLC7A6OS SLC9A1 SLC9A6 SLC9A7 SLITRK2 SMARCA2 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMG8 SMN1 SMN2 SMO SMPD1 SMS SNAP25 SNCA SNCAIP SNORD118 SNRPN SNX14 SORD SOX10 SPART SPAST SPATA5 SPATA7 SPEG SPEN SPG11 SPG21 SPG7 SPRY4 SPTBN1 SPTBN2 SPTLC1 SPTLC2 SQSTM1 SRCAP ST3GAL3 STAC3 STAG2 STAT4 STIL STRADA STUB1 STX1A STXBP1 SUCLA2 SUCLG1 SUFU SURF1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT1 SYT14 SYT2 SZT2 TACO1 TACR3 TAF1 TAFAZZIN TANGO2 TARS1 TBC1D20 TBC1D23 TBC1D24 TBC1D2B TBCD TBCK TBL2 TBP TBR1 TCAP TCEAL1 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TECPR2 TELO2 TERT TFG TGFB1 TGFBR2 TGIF1 TGM6 TH THG1L THOC2 THRA TIA1 TIMM8A TK2 TKFC TLK2 TLR4 TMCO1 TMEM106B TMEM107 TMEM163 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM43 TMEM63C TMEM67 TNNC2 TNNT1 TNPO2 TNR TOGARAM1 TOP3A TOPORS TOR1A TPI1 TPK1 TPM2 TPM3 TPP1 TPR TRAF7 TRAK1 TRAPPC10 TRAPPC11 TRAPPC2L TRAPPC6B TREM2 TREX1 TRIM2 TRIM32 TRIO TRIP4 TRMT10A TRPC3 TRPM3 TRPV4 TSEN15 TSPOAP1 TTBK2 TTC19 TTN TTPA TUBB2B TUBB3 TUBB4A TWNK TYROBP UBA5 UBAC2 UBAP1 UBE3A UBE4A UBE4B UBTF UCHL1 UFSP2 UNC80 UQCRQ UROC1 USP7 USP8 USP9X VAC14 VAMP1 VAMP2 VAPB VARS1 VCP VDR VLDLR VPS13A VPS13C VPS13D VPS16 VPS33A VPS35 VPS37A VPS37D VPS41 VPS51 VWA3B WARS1 WARS2 WASF1 WASHC5 WDR11 WDR26 WDR45B WDR48 WDR81 WLS WNT1 WNT3A WWOX XRCC1 XRCC4 XYLT2 YARS1 YME1L1 YWHAG YY1 ZBTB20 ZC4H2 ZEB2 ZFR ZFTA ZFYVE26 ZFYVE27 ZIC2 ZMPSTE24 ZNF469 ZNF526 ZSWIM6 HP_GAIT_IMBALANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_IMBALANCE ADGRG1 ALS2 ARL6 ATL1 ATL3 ATP5F1D ATXN1 ATXN10 BAZ1B BBS1 BCAS3 BCL7B BUD23 CCDC28B CHD4 CLIP2 DEAF1 DNAJC30 DNAJC6 EIF4H ELN ERLIN2 FKBP6 FLNC FXN GALT GDAP2 GTF2I GTF2IRD1 GTF2IRD2 HK1 HTRA2 HTT KAT6A LIMK1 LRRK2 MAPT METTL27 MLXIPL NCF1 NDUFA1 OCA2 PARK7 PIGG PIK3R5 PINK1 PMP22 PODXL PRKN PTEN PUS3 RFC2 RNASEH1 RRM2B SETX SLC2A3 SLC52A3 SNCA SPEN SPTLC1 SPTLC2 STX1A SYNJ1 TAF1 TBL2 TELO2 TMEM270 TTBK2 UBE3A UCHL1 VCP VPS13C VPS37D HP_GALACTORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GALACTORRHEA AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C GPR101 IRF4 MEN1 PRLR HP_GALACTOSURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GALACTOSURIA FOXP2 GALE GALK1 GALT SKIC3 HP_GANGLIONEUROBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGLIONEUROBLASTOMA BDNF EDN3 GDNF KIF1B LBX1 MYO1H PHOX2B HP_GANGRENE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGRENE ABCA12 ABCC6 AGXT ALOX12B ALOXE3 ASPRV1 BCOR C4A CAT CCR1 CD28 CTLA4 CYP4F22 ENPP1 ERAP1 FAS FIP1L1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R IRF2BP2 KIF11 KLRC4 LIPN MEFV MLX NABP1 NIPAL4 NPM1 NUMA1 P4HA2 PML PRKAR1A PROC PROS1 PRTN3 PTPN22 RARA SDR9C7 STAT3 STAT4 STAT5B SULT2B1 TBL1XR1 TGM1 TLR4 TNFRSF1B UBAC2 ZBTB16 HP_GASTRIC_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRIC_ULCER ARID1B CISD2 GBA1 PLA2G4A WFS1 HP_GASTRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRITIS AIRE CARD8 CASP10 CDH1 CTLA4 DEF6 ELF4 FAS FASLG FOCAD FOXP3 IFIH1 IGHG2 IGKC IPO8 LRBA NFKB1 PRKCD RASGRP1 RIPK1 SKIC2 SKIC3 SYK HP_GASTROESOPHAGEAL_REFLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROESOPHAGEAL_REFLUX AARS1 AASS ABCA3 ABCD4 ACADVL ACTL6B ADAMTS2 ADAMTSL2 ADAR ADAT3 ADGRG1 ADNP AFF3 AFF4 AGO1 AGO2 AGR2 AGRN ALDH18A1 ALG12 ALG2 ALG9 ALMS1 AMER1 AP3B1 AP3B2 APC2 ARCN1 ARF1 ARFGEF2 ARID2 ARNT2 ARSL ARV1 ARVCF ASCC1 ASCL1 ASNS ASPA ASXL1 ASXL3 ATAD1 ATL1 ATL3 ATN1 ATP11A ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATP9A ATRX BAZ1B BCL7B BICRA BLM BRAF BRD4 BUD23 CACNA1A CACNA1B CACNA1C CACNA1I CACNA2D1 CAMK2B CAMTA1 CASZ1 CAV1 CCDC22 CCDC47 CCN2 CCR6 CDC6 CDK13 CDK19 CDKL5 CDKN1A CDKN1B CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CELF2 CENPT CFTR CHAMP1 CHAT CHD7 CHMP1A CHRNA3 CLCA4 CLCN4 CLIP2 CLP1 CLTC CNKSR2 CNTNAP1 COG7 COL13A1 COL1A1 COL2A1 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COMT CORO1A COX11 CPLX1 CPSF3 CREBBP CRLF1 CSPP1 CTBP1 CTCF CTHRC1 CYFIP2 DALRD3 DCTN4 DDB1 DDC DDOST DEAF1 DHCR7 DHDDS DISP1 DLL1 DMPK DNAAF4 DNAJC30 DNM1 DPH5 DPP9 DPYSL5 DSP DST DYRK1A EBF3 EDEM3 EDNRA EEF1A2 EHMT1 EIF4H EIF5A ELN ELP1 EP300 ERCC6 ERCC8 ERMARD EXT2 FAM13A FARSB FBN1 FBXL4 FBXO28 FBXW7 FCSK FGF12 FGF13 FGF8 FGFR1 FGFR3 FGFRL1 FKBP6 FLCN FLII FLNA FMR1 FOXG1 FOXH1 FOXP2 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GAS1 GBA1 GCLC GEMIN4 GLI2 GLRA1 GLRB GLYCTK GMNN GNAS GNB5 GON7 GP1BB GPHN GRB10 GRIA1 GRIN1 GRIN2D GSTM3 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C5 HCN1 HDAC8 HECTD4 HFE HIRA HIVEP2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMOX1 HNRNPH1 HNRNPH2 HNRNPK HRAS HSPG2 IL7R IPO8 IQSEC2 IRF5 ITCH JMJD1C KAT6A KAT6B KCNA2 KCNAB2 KCNB1 KCNH1 KCNN4 KCNQ2 KCNQ3 KIAA0319L KIAA0586 KIF1A KMT2A KMT2B KMT2C KMT2D KNSTRN LAMA2 LBR LETM1 LIG3 LIMK1 LMNA LONP1 LRP5 LRPPRC LTBP4 LUZP1 LYRM4 MAGEL2 MAP1B MAP3K7 MAPK1 MAPK8IP3 MBD5 MCEE MECP2 MED12 MED12L MED25 MEGF10 MEIS2 MEN1 METTL27 MGAT2 MID1 MIF MLXIPL MMP1 MMP23B MRPS34 MSL3 MSR1 MT-ATP6 MUC5B MYH11 MYMK MYO1H MYO9A NACC1 NALCN NCF1 NDUFA13 NECAP1 NEDD4L NEPRO NEXMIF NFIX NIPBL NODAL NONO NOS1 NPHS1 NRCAM NRXN1 NSD1 NSD2 NTRK2 NUP214 NUP54 NUP62 NUS1 OCRL ORC1 ORC4 ORC6 PACS1 PACS2 PAK1 PARN PARS2 PCGF2 PDHA1 PDPN PGM3 PHGDH PHIP PHOX2B PI4KA PIEZO1 PIEZO2 PIGN PIGT PIK3CD PLCH1 POGZ POLG POLG2 POLR2A POR PORCN PPM1D PPP3CA PRDM13 PRDM16 PRKCSH PRKCZ PRMT7 PRUNE1 PSAP PSPH PTCH1 PUF60 PYCR1 RAD21 RAI1 RARS2 RERE RET RETREG1 RFC2 RHBDF2 RNF125 RNU4ATAC RPL10 RREB1 RRM2B RTEL1 SALL1 SAMD9 SATB1 SATB2 SCN3A SCN8A SCN9A SEC23A SEC24C SEC31A SEC63 SEMA3E SEPSECS SERPINA1 SETD2 SFTPA1 SFTPA2 SFTPC SH2B1 SHANK3 SHH SIAH1 SIN3A SIX3 SKI SLC11A1 SLC12A2 SLC13A5 SLC18A3 SLC19A2 SLC1A2 SLC1A4 SLC25A1 SLC25A24 SLC25A4 SLC26A9 SLC2A10 SLC35A2 SLC37A4 SLC38A3 SLC46A1 SLC5A7 SLC6A14 SLC6A3 SLC6A5 SLC9A3 SLC9A6 SMARCA2 SMC1A SMC3 SMC5 SMG9 SNAP25 SNRPB SON SOX5 SPATA5 SPEN SPOP SPTAN1 SPTBN4 SPTLC1 SPTLC2 SRCAP SRPX2 SSR4 STAC3 STAG1 STAG2 STIL STN1 STX1A SUCLA2 SUCLG1 SUPT16H SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TAF1 TBC1D24 TBL2 TBX1 TBX4 TCEAL1 TCF4 TDGF1 TECPR2 TERC TERT TFAP2A TGFB1 TGIF1 TIMM22 TMEM270 TMEM94 TMTC3 TOP3A TRAK1 TRAPPC12 TRIP4 TRMT10C TRPV6 TSEN15 TSEN2 TSEN34 TSEN54 TSPYL1 TTC26 TWIST1 TWNK TYMP TYMS UBA5 UBE4B UFC1 UFD1 USP7 USP9X VAMP1 VPS35L VPS37D WAC WASHC5 WDR26 WNK1 WWOX YWHAG ZBTB18 ZBTB7A ZIC2 ZNF699 ZSWIM6 HP_GASTROINTESTINAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ATRESIA AP1S1 AR ARNT2 BUB1 BUB1B BUB3 CAMK2A CDON CENPF CEP57 CFAP45 CHD7 CHRM3 CLMP COX7B DIS3L2 DISP1 DLL1 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EFTUD2 ERCC4 FANCB FANCD2 FANCF FANCL FBN2 FGF8 FGFR1 FGFR2 FLI1 FOXF1 FOXH1 FREM2 GAS1 GLI2 GMPPB HCCS HESX1 IFT80 ITGA6 ITGB4 KDM3B MAMLD1 MIR17HG MYCN MYH11 NDUFB11 NODAL OTX2 PAH PAICS PI4KA PIGN PLEC POLA1 PORCN PPP1R12A PROKR2 PTCH1 RAD51C RERE RFWD3 RFX6 RMRP RTTN SALL1 SHH SIN3A SIX3 SIX6 SLC25A12 SMARCD1 SON SOX2 SOX3 SPINK5 STAG2 SUFU TCTN3 TDGF1 TGIF1 TRIP13 TTC7A WBP11 WDR35 YY1 ZIC2 ZIC3 ZNF699 HP_GASTROINTESTINAL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_CARCINOMA AAGAB ADA2 AKT1 APC AURKA AXIN2 BAX BMPR1A BRAF BUB1 BUB1B CCND1 CHEK2 COL14A1 CTNNB1 DCC DLC1 EP300 EPCAM FGFR3 FLCN GATA1 GPR35 GREM1 HEATR3 MAD1L1 MCC MLH1 MLH3 MSH2 MSH6 MST1 MUTYH NRAS NTHL1 PDGFRL PIK3CA PLA2G2A PMS2 POLD1 POLE PTPN12 PTPRJ RAD54B RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEMA4D SMAD4 SRC STK11 TCF4 TGFBR2 TLR2 TP53 TSR2 WRN HP_GASTROINTESTINAL_EOSINOPHILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_EOSINOPHILIA ARPC1B CARD11 DOCK8 DSG1 JAK1 SMAD3 STAT1 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 HP_GASTROINTESTINAL_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_HEMORRHAGE ABCC6 ACVRL1 AGGF1 ALDOB AMACR APC ARHGAP31 ARPC1B ARVCF ASXL1 ATP7A ATRX BMPR1A C4A CALR CASP10 CBL CBS CCR1 CD109 CDKN1A CDKN1B CDKN2B CDKN2C CISD2 COMT CTC1 CTLA4 CTNNB1 CYP7B1 DAXX DLL4 DOCK6 DZIP1L ENG ENPP1 EOGT EPCAM ERAP1 F10 F11 F2 F5 F7 F8 F9 FAH FAN1 FAS FCGR2C FGA FGB FGG GDF2 GFI1B GP1BA GP1BB GP9 GREM1 HIRA HLA-B HLA-DPA1 HLA-DPB1 HPGD HPS1 HSD3B7 IFIH1 IFNGR1 IKZF1 IL10 IL10RA IL12A IL12A-AS1 IL23R IRF4 ITGA2 ITGA2B ITGB3 JAK2 JMJD1C KIF23 KIT KLRC4 KRAS LBR LMAN1 LRP5 MCFD2 MED12 MEFV MEN1 MLH1 MLH3 MPI MPL MSH2 MSH6 MVK MYC MYD88 NOTCH1 PDGFRA PIK3CA PKHD1 PLOD1 PLVAP PMS1 PMS2 POT1 PRKCSH PRTN3 PTEN PTPN22 PUF60 RACGAP1 RBCK1 RBPJ RHBDF2 RPS20 RREB1 RUNX1 SDHA SDHB SDHC SDHD SEC24C SEC63 SEMA4A SERPINE1 SLC25A13 SLCO2A1 SMAD4 SREBF1 SRSF2 STAT4 STK11 STN1 TAOK1 TBX1 TEK TET2 TGFBR2 TLR4 TNFRSF1A TNXB TREX1 TSC1 TSC2 TTC7A UBAC2 UFD1 VWF WAS WFS1 WIPF1 XYLT1 XYLT2 HP_GASTROINTESTINAL_INFARCTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFARCTIONS B2M CALR COL3A1 F5 HLA-B HLA-DRB1 IL12B JAK2 MEFV MLX P4HA2 PTPN22 STK11 TEK HP_GASTROINTESTINAL_INFLAMMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFLAMMATION ABCB1 ACADVL ADAMTS2 ADAMTSL2 ARPC1B ATAD1 ATP7A BACH2 BCL10 CARD10 CARD11 CARD8 CARMIL2 CASP10 CDKN1B CIITA COG6 COL17A1 COL7A1 CTLA4 CYBC1 DCLRE1B DEF6 DNASE2 DOCK2 DOCK8 DSG1 ELANE ELF4 F13A1 F13B FAS FASLG FCHO1 FCN3 FERMT1 FH FNIP1 FOXP3 GLRA1 GLRB GPHN GPIHBP1 GPR35 GRB10 GUCY2C HLA-B HLA-DRB1 HPS1 IARS1 IKBKG IL10RA IL10RB IL12A IL12RB1 IL21 IL37 IL6 INAVA IRF5 IRGM IVNS1ABP JAK1 LAMA3 LAMB3 LAMC2 LMX1B LRBA MAP3K7 MASP2 MEFV MEN1 MMEL1 MMP1 MST1 MYH11 NCF4 NFKBIA NLRC4 NOD2 OPLAH PGM3 PHGDH PI4KA PIGY PIK3CD PIK3CG PLCG2 POLA1 POU2AF1 PRF1 PRKCD PSPH PSTPIP1 RASGRP1 RBCK1 REL RET RFX5 RFXANK RFXAP RIPK1 RPL11 RTEL1 SEMA4D SKIC2 SKIC3 SLC2A10 SLC37A4 SLC6A5 SLC9A3 SMAD3 SPIB STAT1 STX11 STXBP1 STXBP2 SYK TCF4 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TNFAIP3 TNFSF15 TNPO3 TOM1 TRAPPC11 TTC7A UNC13D WAS WIPF1 XIAP ZAP70 HP_GASTROINTESTINAL_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_OBSTRUCTION ABCD1 APC ATP7A BRCA1 BRCA2 CALR CAVIN1 CD55 CDKN2A CEACAM3 CEACAM6 CFTR CLCA4 CTLA4 CTNNB1 DCTN4 ECE1 EDN3 EDNRA EDNRB ERBB2 ERBB3 ERCC2 EWSR1 EXT1 EXT2 F5 FAH FCGR2A FOXP3 GCLC GDNF GSTM3 GUCY2C HFE HLA-DPA1 HLA-DPB1 HMBS HMOX1 IL6 JAK2 JAK3 KCNN4 KIF26A KIT KRAS MEFV MIF MITF MNX1 MTRFR MVK MYC MYH11 NOD2 NOTCH3 NRTN PALB2 PALLD PDGFRA PDGFRB PPOX PRTN3 PTPN22 RABL3 RET SDHA SDHB SDHC SDHD SEMA3C SEMA3D SERPINA1 SLC11A1 SLC18A3 SLC26A9 SLC6A14 SLC6A8 SLC9A3 SMAD4 SMO SOX10 SREBF1 STK11 STX1A TBCE TGFB1 TNFRSF1A TP53 TTC7A WT1 HP_GASTROINTESTINAL_STROMA_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_STROMA_TUMOR CD19 CD81 CR2 ICOS IRF2BP2 KIT MS4A1 NF1 NFKB1 NFKB2 PDGFRA PRKCD SDHA SDHB SDHC SDHD TNFRSF13B TNFRSF13C TNFSF12 HP_GASTROINTESTINAL_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ULCER AP2S1 ARID1B ASCC1 ASXL1 BAZ1B BCL7B BUD23 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CISD2 CLIP2 COL7A1 CTHRC1 DNAJC30 EIF4H ELN EP300 FKBP6 GBA1 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HPGD KIT LIMK1 MEN1 METTL27 MLXIPL MMP1 MSR1 NCF1 PI4KA PLA2G4A PLG RFC2 SLCO2A1 SRSF2 STX1A SYK TBL2 TET2 TMEM270 TNFAIP3 TTC7A VPS37D WFS1 XYLT2 HP_GASTROPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROPARESIS ACTG2 AFF4 ATP7A DNAJC6 EIF2AK2 HNRNPK HTRA2 LRRK2 MAGEL2 MAP3K7 MGAT2 MPEG1 MYH11 NDN OCA2 PARK7 PINK1 PODXL POLG POLG2 PRKN RAD21 RRM2B SLC25A4 SNCA SNRPN SON SYNJ1 TMEM70 TWNK TYMP UCHL1 VPS13C HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY ACTA1 ADNP AFF4 ALG12 ALS2 ASPA BLM BRAF C2CD3 CAMLG CDON CLCN6 CLN8 COG5 COL2A1 COL7A1 DALRD3 DCHS1 DEGS1 DISP1 DLK1 DLL1 DNM1L DPM1 FAT4 FDFT1 FGF8 FGFR1 FOXH1 FUS GAS1 GLI2 GNPTAB ITCH KLHL40 KRT14 KRT5 LONP1 LRPPRC MECP2 MEG3 MGAT2 MTRFR MYO1H NODAL NRCAM PDHA1 PGAP1 PGAP2 PGAP3 PIGL PIGO PIGU PIGV PIGW PIGY PLCH1 PNPT1 PPP2R1A PRPS1 PSAT1 PTCH1 PTPN23 RALGAPA1 RNF13 RTL1 SCN1A SCN3A SEPSECS SETBP1 SHH SIGMAR1 SIX3 SLC1A4 SLC5A6 SMC1A SON SPATA5 SPG11 SPOP SPTBN4 SPTLC1 STAG2 STIL SYNE1 TBCK TCEAL1 TDGF1 TGIF1 TOR1A TRAPPC12 TRIO TRIP4 TSEN15 TSEN2 TSEN34 TSEN54 UBTF UGDH WDR26 YY1 ZIC2 HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS ATP1A2 BEAN1 CACNA1A CACNA1G FGF14 GCH1 GRM1 ITPR1 KCND3 PAX7 PRRT2 RBL2 SACS SCN1A SOX3 SYT14 THG1L UROC1 HP_GAZE_EVOKED_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_NYSTAGMUS AFG3L2 APTX ATP1A2 ATXN1 ATXN10 ATXN2 ATXN3 BEAN1 CACNA1A CACNA1G CACNB4 COL18A1 COQ2 EXOSC9 FGF14 GCH1 GDAP2 GRID2 GRM1 ITPR1 KCND3 MRE11 PAX7 PIK3R5 PMPCA POLG POLR3A POLR3B PRDX3 PRKCG PRRT2 RBL2 RFC1 SACS SAMD9L SCN1A SCN8A SDHA SETX SLC1A3 SOX3 SPG11 SPTBN2 STUB1 SYT14 TBP TDP1 THG1L TMEM106B UBAP1 UCHL1 UROC1 VLDLR VPS13D WWOX HP_GENERALIZED_ABNORMALITY_OF_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ABNORMALITY_OF_SKIN AARS1 ABCA3 ABCB11 ABCB4 ABCB6 ABCC2 ABCC6 ABCC9 ABCD3 ABL1 ACADVL ACD ACP5 ACTA2 ACTC1 ACVRL1 ADA2 ADAM17 ADAMTS13 ADAMTS19 ADAMTS2 ADAMTSL2 ADAR ADGRE2 AEBP1 AGA AGPAT2 AGRN AGXT AIP AK9 AKR1D1 AKT1 AKT3 ALAS2 ALDH18A1 ALDH2 ALDH3A2 ALDOA ALDOB ALG6 ALG8 ALMS1 ALOX12B ALOXE3 ALPK1 AMACR ANAPC1 ANGPT1 ANK1 ANKRD26 ANTXR1 ANTXR2 AP1S1 AP2M1 APC2 APOE AQP5 ARHGAP31 ARID1B ARL13B ARL6IP6 ARMC5 ARPC1B ARPC4 ARVCF ARX ASXL1 ATL1 ATL3 ATM ATP11C ATP1A2 ATP1A3 ATP2C1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP7B ATP8B1 ATR ATRIP ATRX AXIN2 B3GALT6 B4GALT7 BAAT BANF1 BANK1 BAZ1B BCL7B BCOR BGN BLK BLM BLOC1S3 BLOC1S5 BMP2 BMPR1A BMPR2 BRAF BRCA1 BRCA2 BRCC3 BRD4 BSCL2 BUD23 C1QB C1R C1S C2 C4A C4B CA5A CACNA1A CALR CARMIL2 CARS1 CASK CASP10 CASR CAST CASZ1 CAV1 CAVIN1 CBL CBS CCDC115 CCM2 CCN2 CCR6 CD109 CD19 CD28 CD46 CD81 CDAN1 CDH11 CDH23 CDH3 CDIN1 CDKN1B CDKN2A CENPE CENPJ CEP104 CEP152 CFH CFHR1 CFHR3 CFI CFTR CHAT CHD2 CHRNA1 CHRNB1 CHRND CHRNE CHST14 CHST8 CIB1 CITED2 CLCN7 CLDN1 CLEC7A CLIP2 CLPX CLTRN COG4 COG5 COG7 COG8 COL12A1 COL13A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL7A1 COMT COX4I2 COX7B CPA1 CPN1 CPOX CR2 CREB3L1 CSTA CSTB CTC1 CTCF CTLA4 CTNNB1 CTRC CTSA CTSB CYB5A CYB5R3 CYBA CYBB CYBC1 CYLD CYP27A1 CYP7B1 DAXX DCDC2 DCLRE1B DDB2 DDR2 DDX11 DDX6 DEF6 DEPDC5 DGUOK DHCR7 DHFR DIAPH1 DKC1 DLL4 DLST DNA2 DNAJC30 DNASE1 DNASE1L3 DNMT3A DOCK6 DOK7 DPAGT1 DPM1 DPP9 DSE DSG4 DSP DST DSTYK DTNBP1 DUOX2 DUOXA2 DZIP1L EDA EDAR EDARADD EDN3 EDNRB EGFR EIF2AK3 EIF2AK4 EIF4H ELMO2 ELN ELOVL4 ELP1 EMILIN1 ENG ENPP1 EOGT EPAS1 EPB41 EPB42 EPHB2 EPHB4 EPM2A EPOR ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ETFA ETFB ETFDH ETHE1 ETS1 ETV6 EVC EVC2 EXOSC2 EXPH5 F10 F12 F13A1 F13B F2 F5 F7 F8 FANCA FANCC FANCD2 FANCE FAS FASLG FBLN5 FBN1 FCGR2A FCGR2B FCGR2C FCGR3B FDFT1 FDPS FECH FERMT1 FERMT3 FGA FGB FGF23 FGFR1 FGFR2 FGFR3 FGG FH FIP1L1 FKBP10 FKBP14 FKBP6 FLI1 FLNA FLT4 FOCAD FOS FOXE3 FOXP3 FRG1 FTO FUCA1 FYB1 FZD4 G6PC3 G6PD GABRA1 GABRD GABRG2 GALE GALK1 GALM GALT GATA1 GATA2 GATA4 GATA6 GBA1 GCGR GCLC GDF2 GFI1B GGCX GH1 GHR GIMAP5 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLA GLB1 GLMN GLRX5 GLUL GNA11 GNA14 GNAQ GNAS GNB2 GNPTAB GORAB GP1BA GP1BB GP6 GP9 GPI GPNMB GPR35 GRIK2 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUCY1A1 GYPC H4C3 H4C5 HBA1 HBA2 HBB HBG2 HCCS HCK HDAC8 HEATR3 HELLPAR HERC2 HESX1 HEY2 HFE HIRA HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMGCL HNF1B HNF4A HOXA11 HOXC13 HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HR HS3ST6 HSD17B10 HSD3B7 HSPG2 HTRA2 HYOU1 IARS1 IARS2 ICOS IER3IP1 IFIH1 IFNG IFT122 IFT43 IGF1R IGHG1 IKBKG IKZF1 IL10 IL12A IL12RB1 IL17F IL17RA IL17RC IL18BP IL2RG IL36RN IL6ST IL7 INSR IPO8 IRAK1 IRF2BP2 IRF5 ITGA2 ITGA2B ITGA3 ITGAM ITGB2 ITGB3 ITGB4 IYD JAG1 JAK2 JAM2 JAZF1 JMJD1C JUP KANSL1 KCNAB2 KCNJ6 KCNK9 KCNN4 KCNQ2 KCNQ3 KCTD1 KDSR KIAA0319L KIF12 KIF1B KIF22 KIF23 KIT KITLG KLHL7 KLLN KMT2D KMT2E KNG1 KRAS KREMEN1 KRIT1 KRT1 KRT10 KRT14 KRT18 KRT2 KRT5 KRT74 KRT83 KRT85 KYNU LAMA3 LAMB3 LAMC2 LARP7 LBR LCP2 LEMD2 LHX3 LHX4 LIFR LIG1 LIG4 LIMK1 LIPA LIPN LMAN1 LMNA LMNB2 LMX1B LORICRIN LOX LPL LRP1 LRP4 LRP5 LSM11 LTBP4 LUZP1 LYST LZTR1 MAGEL2 MANBA MAOA MAP2K1 MAP2K2 MAPK1 MASP1 MAT2A MAX MBTPS2 MCFD2 MDH2 MDM2 MECP2 MED12 MEFV MEN1 METTL27 MFAP5 MITF MKRN3 MLXIPL MMACHC MMEL1 MMP1 MMP21 MMP23B MPL MPLKIP MPV17 MRAS MRE11 MRPS2 MS4A1 MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTAP MTX2 MUSK MVD MVK MYD88 MYH11 MYH6 MYH9 MYLK MYO5A MYO5B MYO9A MYOF MYORG NAA10 NABP1 NAF1 NAGA NAXD NBAS NBEAL2 NBN NCF1 NCF2 NCF4 NDP NDUFB11 NDUFS2 NDUFS4 NECTIN1 NECTIN4 NEU1 NEXMIF NF1 NFIA NFIX NFKB1 NFKB2 NFKBIA NGF NHLRC1 NHP2 NIPBL NKX2-5 NKX2-6 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NOTCH1 NPAP1 NPC1 NPC2 NPM1 NPRL2 NPRL3 NR1H4 NR3C1 NSD1 NSDHL NSUN2 NTRK1 NUMA1 NUP214 NUP85 OCLN ODC1 ORAI1 P2RY12 PALB2 PALLD PARN PARS2 PAX3 PAX8 PCDH19 PCK1 PCNA PCNT PDCD1 PDCD10 PDE11A PDGFB PDGFRB PDPN PDSS1 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PGAP2 PGAP3 PGM3 PHGDH PIEZO1 PIGA PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3R1 PKD2 PKHD1 PKLR PKP1 PLAU PLCG2 PLD1 PLEC PLG PLIN1 PLK4 PLOD1 PLOD3 PLXND1 PML PMM2 PMVK PNKP POFUT1 POGLUT1 POLA1 POLD1 POLE POLG POLG2 POLH POLR3A PORCN POU1F1 POU2AF1 PPARG PPOX PPP1R15B PRDM16 PRDM5 PRF1 PRICKLE1 PRKACA PRKACG PRKAG2 PRKAR1A PRKCD PRKCZ PRKG1 PROC PROP1 PROS1 PRPS1 PRRT2 PRSS1 PRSS2 PRTN3 PSAT1 PSENEN PSMB8 PSMC3 PSMG2 PTDSS1 PTEN PTF1A PTPN11 PTPN22 PTPN3 PUS3 PWAR1 PWRN1 PXK PYCR1 RAB27A RAB3GAP1 RAB3GAP2 RABL3 RAC2 RAD21 RAF1 RAPSN RARA RASA1 RASGRP1 RASGRP2 RBBP8 RBM10 RBM28 RBPJ RECQL RECQL4 RERE RET RFC2 RHAG RHCE RHD RHOH RIN2 RINT1 RIT1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF213 RNU4ATAC RNU7-1 RORB RPA1 RPS6KA3 RREB1 RTEL1 RUNX1 RYR1 SAMD9 SAMHD1 SASH1 SBDS SCARB2 SCN10A SCN11A SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEC24C SEMA4D SEPTIN9 SERPINA1 SERPINE1 SERPINF2 SERPING1 SETD2 SETX SF3B4 SFTPB SFTPC SH2B3 SIK3 SKI SKIC3 SLC10A1 SLC16A2 SLC17A9 SLC18A3 SLC1A3 SLC20A2 SLC25A1 SLC25A11 SLC25A13 SLC25A20 SLC25A24 SLC25A3 SLC26A4 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC30A10 SLC34A2 SLC35A1 SLC37A4 SLC39A13 SLC39A4 SLC44A1 SLC4A1 SLC51A SLC51B SLC5A5 SLC5A6 SLC5A7 SLC6A1 SLC6A19 SLCO1B1 SLCO1B3 SLFN14 SLURP1 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCAD1 SMC1A SMC3 SMPD1 SNAI2 SNAP25 SNORD115-1 SNORD116-1 SNX10 SOS1 SOX10 SOX18 SP110 SPEN SPIB SPINK1 SPINK5 SPOP SPP1 SPRED2 SPRTN SPTA1 SPTB SPTBN1 SPTLC1 SPTLC2 SREBF1 SRSF2 STAG1 STAT3 STAT4 STAT5B STIM1 STING1 STN1 STUB1 STX11 STX1A STXBP1 STXBP2 SULT2B1 SUPT16H SYK SYNGAP1 SYT2 TALDO1 TARS1 TBL1XR1 TBL2 TBX1 TBX19 TBX20 TBXA2R TCF4 TCIRG1 TERC TERT TET2 TFAM TFAP2A TFR2 TG TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGM1 TGM5 THSD4 TINF2 TLL1 TLR7 TMC6 TMC8 TMEM127 TMEM260 TMEM270 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TNFSF15 TNFSF4 TNIP1 TNPO3 TNXB TOP3A TOR1A TP53 TP63 TPI1 TPO TRAF3IP2 TRAIP TREX1 TRHR TRMT10A TRMU TRPM4 TRPV3 TSC1 TSC2 TSHB TSHR TSPAN12 TTC26 TULP3 TWIST2 TXNDC15 TYMS TYR UBE2L3 UBE4B UFD1 UGT1A1 UNC13D UNC45A UROD UROS USB1 USF3 USP18 USP48 USP53 USP8 UVSSA VAMP1 VEGFC VHL VIPAS39 VPS33B VPS37D VPS53 VWF WAS WDR35 WIPF1 WNT10A WRAP53 WRN XPA XPC XPNPEP2 XPR1 XRCC4 YARS1 ZBTB16 ZFYVE19 ZIC3 ZMPSTE24 ZNF408 ZNF469 ZNF699 HP_GENERALIZED_AMINOACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMINOACIDURIA CTNS CYP27B1 CYP2R1 DGUOK EHHADH ETFA ETFB ETFDH FAH GATM NDUFAF6 NGLY1 SLC2A2 SLC34A1 HP_GENERALIZED_AMYLOID_DEPOSITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYLOID_DEPOSITION APOA1 B2M CST3 FGA GSN LYZ HP_GENERALIZED_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYOTROPHY ACADSB ACTA1 ALDH18A1 BAG3 BIN1 C2orf69 CARS1 CHCHD10 CNBP COL12A1 COL6A1 COL6A2 COL6A3 DALRD3 DARS2 DNA2 DNAJC19 DOK7 EXOSC9 FUS GMPPB GPR35 HNRNPA1 HNRNPA2B1 KBTBD13 KIF21A KLHL41 LAMP2 LMNA LMNB2 MEGF10 MGME1 MST1 MUSK MYH7 MYOD1 MYPN NAGA NDE1 NEB NOTCH2NLC NUP88 OGDH PGAP1 PIGA PNPLA2 PNPLA6 POLG POLR3A POMT1 PUS1 PYROXD1 RAPSN RBM28 RNF170 RYR1 SCN4A SCO2 SCYL1 SELENON SEMA4D SGCD SLC16A2 SLC18A3 SLC52A2 SPEG SPG11 SPTBN4 SPTLC1 SQSTM1 TARDBP TBK1 TCF4 TK2 TPM2 TPM3 TRIP4 TTN TUBA1A TWNK UNC45B VAMP1 VCP WARS2 YARS2 HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA ADGRV1 CLN3 GABRD GABRG2 HCN1 PLA2G6 SCN1A SCN1B SCN2A SCN9A STX1B TBP HP_GENERALIZED_CLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CLONIC_SEIZURE ACSF3 ARX CASK CDKL5 DMXL2 DPM2 GABRA1 GABRG2 GNAO1 GRIN1 GRIN2A GRM7 KCNA1 KCNQ2 KCNQ3 NEUROD2 PCDH19 PIGP PIGQ PNKP PRRT2 PSAP SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC25A22 SLC32A1 TRIM8 HP_GENERALIZED_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_DYSTONIA ACTB ALS2 AOPEP ATP5F1A C19orf12 DLAT FA2H GCH1 HPCA IMPDH2 JAM2 KMT2B LRPPRC MRPS25 NAXD NDUFA2 NDUFAF6 NR4A2 PANK2 PLP1 PRKRA SLC39A14 SUOX TH THAP1 TIMM8A TNR TOR1A TSPOAP1 TUBB4A UFC1 VPS41 HP_GENERALIZED_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_EDEMA ARHGDIA CALCRL CD46 CD55 CFH CFI DEF6 DOK7 DPAGT1 FARSB FSHR HELLPAR MOGS MYLK NOS1AP PHGDH PIEZO1 PLVAP PMM2 POLG PRF1 PRKAG2 SCARB2 TMEM260 TTC26 UBR1 HP_GENERALIZED_HIRSUTISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HIRSUTISM ABCA5 ABCC9 AIP AKT1 ARL6 ARX BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BMP1 BRD4 BSCL2 CASZ1 CEP19 CEP290 CFAP418 CTSC CYP19A1 ELMO2 GABRD GJA1 GJB3 GJB4 GNE GPR101 HDAC8 HSPG2 IDUA IFT172 IFT27 IFT74 INSR IRF6 KCNAB2 KCNJ8 KDSR KMT2A LMNA LMNB2 LUZP1 LZTFL1 MAPK1 MAPRE2 MBD5 MC1R MKKS MKS1 MMP23B NFIX NIPBL NOTCH2 NPHP1 NRAS PDPN PEPD PPARG PRDM16 PRKCZ PRKG2 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RERE SCAPER SCLT1 SDCCAG8 SKI SLC25A12 SLC25A24 SMC1A SMC3 SMO SPEN SUCLA2 TBC1D20 TRIM32 TTC8 TUBB TWIST1 TWIST2 UBE2A UBE4B WDPCP HP_GENERALIZED_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERKERATOSIS AKT1 FUCA1 GJB3 KLLN KRT10 LMNA PIK3CA PTEN SDHB SDHC SDHD SEC23B USF3 ZMPSTE24 HP_GENERALIZED_HYPERPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERPIGMENTATION AAAS ACD AIP AKT1 ALDH3A2 ATP6V1B2 BMP6 BRAF CYP11A1 DKC1 GMPPA GPNMB GPR101 HAMP HFE HJV HRAS INSR IRF4 KCNH1 KCNMA1 KCNN3 KRAS KRT14 KRT5 MAP2K1 MAP2K2 MC2R MRAP MYO5A NNT PARN PAX6 POLA1 PTEN RTEL1 STAR TERT TINF2 TRAPPC11 TXNRD2 HP_GENERALIZED_HYPERREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERREFLEXIA AARS1 ABCD1 CARS1 EEF2 ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP NADK2 RNF113A SLC25A12 SLC2A1 SLC52A3 SPG7 TARS1 HP_GENERALIZED_HYPERTRICHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERTRICHOSIS ATP6V1B2 KCNH1 KCNMA1 KCNN3 KMT2A NEU1 SETBP1 SRCAP HP_GENERALIZED_HYPOPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION AP3B1 AP3D1 BLOC1S3 BLOC1S5 CACNA1F DTNBP1 EDNRB EPG5 HERC2 HPS1 HPS3 HPS4 HPS5 HPS6 KRT5 LRMDA LYST MAGEL2 MC1R MITF MKRN3 NPAP1 OCA2 OCRL PAH PWAR1 PWRN1 SKIC2 SKIC3 SLC24A5 SLC45A2 SNORD115-1 SNORD116-1 TP63 TYR TYRP1 WDR45 ZPR1 HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR ABCA2 ACD AP3B1 BLOC1S3 BLOC1S5 CTC1 DKC1 DPP9 DSTYK GNPTAB IFT140 KANSL1 KITLG LPAR6 LYST MC1R MLPH MOGS MYO5A NHP2 NOP10 NPM1 OCA2 PADI3 PAH PARN PAX3 PDE4D PIGN RAB27A RMRP RTEL1 SLC17A5 SLC24A5 SLC45A2 SNRPN TAFAZZIN TERC TERT TGM3 TINF2 TP63 TYMS TYR TYRP1 UBE3A UBR1 USB1 WRAP53 HP_GENERALIZED_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOTONIA AARS1 ABCC8 ACACA ACAD9 ACADM ACAT2 ACTA1 ACTB ACTL6B ACTN2 ACY1 ADAM22 ADARB1 ADSL AGA AGK AIFM1 ALDH5A1 ALG1 ALG12 ALG13 ALG14 ALG2 ALG9 AMER1 AMMECR1 AMT ANK3 AP1S2 AP2M1 AP3B2 AP3D1 APC ARFGEF2 ARHGAP31 ARID2 ARL13B ARL3 ARSA ARV1 ARX ASCC1 ASXL3 ATCAY ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATXN1 ATXN10 ATXN2 AUTS2 B3GALT6 B3GAT3 B4GALT7 BCKDHA BCKDHB BCL11B BCOR BCS1L BIN1 BLTP1 BMP1 BMPER BMPR1A BOLA3 BPTF BRAF BSND BUB1B C12orf4 C2CD3 CACNA1A CACNA1B CACNA2D1 CACNA2D2 CAMK2G CANT1 CARS1 CASR CCDC115 CD59 CD96 CDC42 CDK10 CDK19 CDK8 CDKL5 CDON CELF2 CEP104 CEP290 CEP41 CHAT CHD1 CHD8 CHKB CHMP1A CHRNE CHST14 CHST3 CLCN4 CLCN6 CLCN7 CLCNKA CLCNKB CLP1 CLTC CNKSR2 CNOT1 CNOT2 CNTNAP1 CNTNAP2 COA8 COG1 COG6 COG7 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 COLQ COQ7 COQ9 COX10 COX4I1 COX6A2 COX6B1 CPLANE1 CPLX1 CPT1A CPT2 CRPPA CSNK2B CSPP1 CTBP1 CTU2 CUL4B CYFIP2 CYP11B2 CYP27B1 CYP2R1 DAG1 DALRD3 DBT DCHS1 DDOST DDX11 DDX3X DHCR7 DHDDS DHFR DHX16 DISP1 DLD DLL1 DMPK DNA2 DNAJC12 DNM1 DNM1L DNM2 DPAGT1 DPM1 DPM2 DST DYNC1I2 DYRK1A EBF3 EBP ECHS1 EDN1 EED EEF1A2 EFNB1 EHMT1 EIF2B1 EIF2S3 ELN ELP1 EMC1 EN1 EP300 ERCC2 ERCC3 ERF ETHE1 EXOSC3 EXOSC5 EXOSC9 EXTL3 EZH2 FAM149B1 FARSA FARSB FASTKD2 FBXO11 FBXO28 FBXW11 FDX2 FGF12 FGF13 FGF8 FGFRL1 FH FKRP FKTN FLAD1 FLCN FLNA FLVCR1 FMN2 FOXG1 FOXH1 FOXP1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALE GALNT2 GAN GARS1 GAS1 GBE1 GCDH GCH1 GFAP GFPT1 GLB1 GLDC GLE1 GLI2 GLRX5 GLUL GM2A GMPPA GMPPB GNAI3 GNAO1 GNB1 GNB2 GNE GNPAT GNPTAB GPAA1 GPHN GPX4 GRID2 GRIK2 GRIN2B GRIN2D GTF2E2 GTF2H5 HACE1 HADH HADHA HCN1 HDAC8 HECW2 HERC2 HEXA HLCS HNRNPU HSD17B10 HTRA2 HUWE1 IDH1 IFIH1 IFT81 INPP5E INPPL1 IQSEC1 IQSEC2 ISCA2 ITCH ITPR1 KANSL1 KAT6A KAT6B KATNIP KBTBD13 KCNA2 KCNB1 KCNC3 KCNH1 KCNJ10 KCNK9 KCNMA1 KCNN3 KCNT1 KDM1A KDM3B KDM6A KIAA0586 KIAA0753 KIF14 KIF1A KIF22 KIF7 KLHL41 KMT2C KMT2E LAMA1 LARGE1 LARS1 LETM1 LIAS LIFR LMBRD1 LMOD3 LONP1 LRPPRC LRRC32 LYRM7 MAG MAGEL2 MAMLD1 MAN2B1 MANBA MAPK1 MAPRE2 MARS2 MAST1 MBOAT7 MCCC1 MCCC2 MCOLN1 MED12 MED12L MED13L METTL5 MGAT2 MICOS13 MKRN3 MKS1 MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMUT MN1 MOGS MORC2 MPC1 MPI MPLKIP MRE11 MRPS14 MRPS22 MRPS28 MSL3 MSTO1 MT-TE MT-TN MT-TS1 MTM1 MTMR14 MTOR MTR MTX2 MVK MYF6 MYH2 MYH7 MYL2 MYMK MYO18B MYO5A MYOD1 MYPN NAA10 NAA20 NAGA NANS NARS1 NARS2 NAT8L NDUFA1 NDUFA11 NDUFA12 NDUFA6 NDUFAF4 NDUFAF5 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS7 NDUFV2 NEB NECAP1 NEMF NEPRO NEU1 NKX2-1 NKX6-2 NODAL NONO NOVA2 NPAP1 NPC1 NPHP1 NRAS NRXN1 NSD2 NSDHL NTRK2 NUP214 NUS1 ODC1 OFD1 OPHN1 OSTM1 OTUD6B OTX2 P4HTM PACS1 PACS2 PAK1 PARS2 PAX7 PBX1 PCBD1 PDE6D PDHA1 PDHB PDP1 PET100 PEX1 PEX12 PEX14 PEX16 PEX2 PEX3 PEX5 PEX6 PGM3 PHF21A PHF6 PIEZO2 PIGB PIGG PIGH PIGK PIGN PIGS PIGT PIGV PIK3CA PLA2G6 PLCB4 PLCH1 PLEKHG2 PLG PMP22 PMPCA PNP PNPLA2 PNPT1 POC1A POGZ POLG POLG2 POLR2A POLR3A POMGNT1 POMT1 POMT2 POU3F3 PPP1CB PPP2R5D PPP3CA PPT1 PRDM13 PRDX1 PRF1 PRKCG PRKD1 PRNP PRODH PSAP PTCH1 PTCHD1 PTDSS1 PTEN PUF60 PUM1 PUS1 PUS3 PUS7 PWAR1 PWRN1 RAI1 RARS2 RBM10 RERE RET RETREG1 RLIM RMND1 RNASEH2C RNF113A RNF13 RNU4ATAC ROBO3 RORA RPGRIP1L RPL10 RPS23 RRM2B RSPRY1 RYR1 SC5D SCN1B SCN3A SCN4A SCN8A SCN9A SCO1 SDHA SDHAF1 SDHB SDHD SELENON SERAC1 SERPINH1 SETD1A SETD2 SGPL1 SHANK3 SHH SHOC2 SIX3 SIX6 SKI SLC12A2 SLC13A3 SLC13A5 SLC17A5 SLC18A2 SLC1A2 SLC1A3 SLC22A5 SLC25A10 SLC25A15 SLC25A20 SLC25A24 SLC25A26 SLC25A4 SLC25A42 SLC25A46 SLC2A10 SLC35A1 SLC35A3 SLC35C1 SLC38A3 SLC45A1 SLC46A1 SLC52A2 SLC9A6 SLC9A7 SMC1A SMN1 SMS SNORD115-1 SNORD116-1 SNRPN SOX2 SOX4 SOX5 SPART SPEG SPTAN1 SPTBN4 SSR4 STAG2 STAMBP STIL STRA6 STRADA STT3A STT3B SUOX SUPT16H SURF1 SUZ12 SYNE1 SYNGAP1 SYNJ1 SZT2 TAF1 TANC2 TANGO2 TARS1 TASP1 TBC1D20 TBC1D23 TBC1D24 TBCE TBR1 TCTN3 TDGF1 TDP2 TECPR2 TET3 TGFB1 TGIF1 TH TIMM50 TK2 TLK2 TMEM199 TMEM216 TMEM237 TMEM63A TMEM67 TMEM70 TMEM94 TNFRSF11A TOGARAM1 TOPORS TOR1A TPI1 TPM2 TPM3 TRAK1 TRAPPC11 TRIP4 TRIT1 TRMU TRNT1 TRPS1 TSFM TSPOAP1 TTN TUBA1A TUBB2A TWNK TXN2 UBA1 UBA5 UBE3A UBE3B UBR1 UFM1 UGDH UNC80 USP18 USP7 USP9X VARS1 VDR VIPAS39 VLDLR VPS13B VPS33B VPS51 WAC WASF1 WASHC5 WNK1 WWOX YIF1B YWHAG ZBTB18 ZC4H2 ZEB2 ZIC2 ZNF462 ZNHIT3 HP_GENERALIZED_ICHTHYOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ICHTHYOSIS LORICRIN NIPAL4 PHGDH PNPLA1 SLC27A4 HP_GENERALIZED_JOINT_LAXITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_JOINT_LAXITY AEBP1 AP4B1 AP4E1 AP4M1 AP4S1 ATP6V0A2 ATP6V1A ATP6V1E1 C1R CHD7 CHST14 COL1A1 COL2A1 COL5A1 COL5A2 COMP DSE DUSP6 FGF17 FGF8 FGFR1 FGFR3 GNRH1 GNRHR HS6ST1 IPO8 KIF22 KISS1 KISS1R LONP1 MCTP2 MED12 MSTO1 NHLH2 NSMF PHIP PLOD1 PROK2 PROKR2 PUF60 SATB2 SERPINH1 SPRY4 TAC3 TACR3 TDO2 TONSL WDR11 HP_GENERALIZED_LIMB_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY ACTA1 CARS1 DARS2 GMPPB KBTBD13 KLHL41 MEGF10 MYH7 MYPN NEB PNPLA2 PNPLA6 PUS1 SCO2 SCYL1 SGCD SPG11 TPM2 TPM3 YARS2 HP_GENERALIZED_LIPODYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIPODYSTROPHY BSCL2 CAV1 FBN1 KCNJ6 LMNA MTX2 PSMG2 ZMPSTE24 HP_GENERALIZED_LYMPHADENOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LYMPHADENOPATHY DCLRE1C HLA-DRB1 IFIH1 IFNGR1 LRBA NFATC2 PRKCD RAC2 RNF168 TNFRSF9 HP_GENERALIZED_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MUSCLE_WEAKNESS AARS2 ABCB6 ACAD9 ACTA1 ACY1 ADCY5 AGK AGRN AIFM1 ANG ANXA11 ATP13A2 ATXN2 BAG3 CAPN3 CAVIN1 CCND1 CCNF CFAP410 CHAT CHCHD10 CHMP2B CHRNA1 CHRND CLCNKB COA8 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA DAO DCTN1 DMD DNAJB6 DSE EPHA4 ERBB4 EXOSC9 FGF23 FIG4 FKRP FKTN FUS FXYD2 GAA GLE1 GLT8D1 HACD1 HADHA HADHB HNRNPA1 HTT IBA57 ITGA7 KCNJ1 KLHL41 LAMB2 LDB3 LMOD3 MAP3K20 MATR3 MEGF10 MEN1 MORC2 MTM1 MUSK MYH2 MYH7 MYL1 MYL2 MYO9A NEB NEFH NEK1 OPTN ORAI1 PFN1 PIGN PLA2G6 PLEC PLOD1 PNKD POLG POMGNT1 POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH PRRT2 RANBP2 RAPSN RNU12 RYR1 SCN4A SDHA SDHAF1 SDHB SDHD SELENON SLC12A1 SLC12A3 SLC16A2 SLC18A3 SLC25A1 SLC25A4 SLC2A3 SLC52A3 SLC5A7 SNAP25 SOD1 SPTLC1 SQSTM1 SYT2 TAF15 TARDBP TBK1 TK2 TPM2 TPM3 TREM2 TTN TWNK UBA1 UBQLN2 UNC13A VAMP1 VAPB VCP YY1 HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE AP2M1 CAMTA1 CHD2 MED13 NEXMIF OGDHL SCN1A SLC2A1 SLC6A1 SYNGAP1 HP_GENERALIZED_MYOCLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_SEIZURE ABCC8 ADGRG1 ADGRV1 AFG3L2 ALDH5A1 ALDH7A1 AP2M1 APC2 ARX ASAH1 BRAT1 BTD BUB1B CACNA1A CARS2 CDKL5 CHD2 CILK1 CLCN2 CLN8 CPLX1 CUX2 DHDDS DHFR DNM1 DNM1L DPAGT1 DPM1 DPM2 DYRK1A EFHC1 ELOVL4 EPM2A GABBR2 GABRA1 GABRB3 GABRD GABRG2 GALC GAMT GBA1 GCK GLB1 GPHN GRIN1 GRN HACE1 HCN1 HYMAI IER3IP1 INS KCNJ11 KCNT2 KCTD7 KNSTRN LMNB2 LNPK MAPK10 MBOAT7 MECP2 MFSD8 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR NDE1 NDUFA1 NEU1 NEXMIF NGLY1 NHLRC1 NSD1 NTNG1 NUS1 OPHN1 PAFAH1B1 PCDH12 PCDH19 PDX1 PHGDH PIGA PIGT PIK3CD PLAGL1 PRDM8 PRICKLE1 PSAP PTEN PTRH2 SAMD12 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF1 SDHB SDHD SEPSECS SETD2 SIK1 SLC12A5 SLC25A15 SLC25A22 SLC2A1 SLC38A3 SLC6A1 SMC1A SMS SPATA5 STAT3 STX1B STXBP1 SYNGAP1 TANGO2 TBC1D24 TRAPPC9 TRIT1 TSEN15 TSEN2 TSEN34 TSEN54 HP_GENERALIZED_NEONATAL_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_NEONATAL_HYPOTONIA ADNP ATP2B3 BPTF COG4 EEF1A2 FIG4 GDAP1 MECP2 MED12 MT-TT MTHFR PEX10 PEX12 PEX16 PEX26 PEX3 PEX6 PSMD12 SUCLG1 SYNE1 TBC1D24 VAC14 HP_GENERALIZED_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA ADGRV1 CDKN1A CDKN1B CDKN2B CDKN2C DNM1 GABRD GABRG2 HCN1 MEN1 POLG SCN1A SCN1B SCN2A SCN9A STX1B HP_GENERALIZED_ONSET_MOTOR_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_MOTOR_SEIZURE ABCC8 ACSF3 ADGRG1 ADGRV1 AFG3L2 ALDH5A1 ALDH7A1 AP2M1 APC2 ARHGEF9 ARX ASAH1 BRAT1 BTD BUB1B CACNA1A CACNB4 CAMTA1 CARS2 CASK CDKL5 CHD2 CILK1 CLCN2 CLN8 COG2 COQ5 COQ8A COX8A CPLX1 CUX2 DHDDS DHFR DMXL2 DNM1 DNM1L DOCK7 DPAGT1 DPM1 DPM2 DYRK1A EEF1A2 EFHC1 ELOVL4 EPM2A EXOC8 GABBR2 GABRA1 GABRA5 GABRB3 GABRD GABRG2 GAD1 GALC GAMT GBA1 GCK GLB1 GNAO1 GNB1 GPHN GRIN1 GRIN2A GRM7 GRN HACE1 HCN1 HCN2 HYMAI IER3IP1 INS IREB2 JRK KARS1 KCNA1 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KCTD7 KNSTRN LMNB2 LNPK MAPK10 MAST3 MBOAT7 MDH2 MECP2 MED13 MFSD8 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR NARS1 NDE1 NDUFA1 NECAP1 NEU1 NEUROD2 NEXMIF NGLY1 NHLRC1 NSD1 NTNG1 NUS1 OGDHL OPHN1 PACS2 PAFAH1B1 PCDH12 PCDH19 PCYT2 PDX1 PHGDH PIGA PIGP PIGQ PIGT PIK3CD PLAGL1 PNKP PRDM8 PRICKLE1 PRRT2 PSAP PTEN PTRH2 PURA RPL10 SAMD12 SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SDHA SDHAF1 SDHB SDHD SEPSECS SETD2 SIK1 SLC12A5 SLC1A2 SLC25A15 SLC25A22 SLC2A1 SLC32A1 SLC38A3 SLC6A1 SLC6A19 SLC9A6 SMC1A SMS SPATA5 STAT3 STX1B STXBP1 SYNGAP1 TANGO2 TBC1D24 TBCD TMX2 TRAPPC9 TRIM8 TRIT1 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A UBE3A VPS50 VPS53 HP_GENERALIZED_ONSET_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_SEIZURE AARS1 ABCC8 ACSF3 ADGRG1 ADGRV1 ADNP ADPRS ADRA2B AFF3 AFG3L2 AIFM1 ALDH4A1 ALDH5A1 ALDH7A1 ALMS1 ANO10 AP2M1 APC2 ARHGEF9 ARX ASAH1 ATAD3A ATP1A1 ATP1A3 ATXN10 AVPR2 BRAT1 BTD BUB1B CACNA1A CACNA1H CACNA2D1 CACNB4 CAMK2A CAMTA1 CARS1 CARS2 CASK CDK13 CDKL5 CEP85L CHD2 CIC CILK1 CLCN2 CLCN4 CLN5 CLN8 CLPB CNTN2 CNTNAP2 COG2 COL3A1 COQ5 COQ8A COX8A CPLX1 CSTB CTNND2 CUX2 DCX DEPDC5 DHDDS DHFR DMXL2 DNM1 DNM1L DOCK7 DOHH DPAGT1 DPM1 DPM2 DPM3 DYRK1A ECM1 EEF1A2 EFHC1 EHMT1 ELOVL4 EPM2A ERCC2 ERCC3 EXOC8 EXTL3 EZH2 FAR1 FBXO28 FGFR3 FRRS1L FTL FZR1 GABBR2 GABRA1 GABRA3 GABRA5 GABRB3 GABRD GABRG2 GAD1 GALC GAMT GATAD2B GBA1 GCK GDI1 GJA5 GJA8 GLB1 GLUD1 GNAI1 GNAO1 GNB1 GOSR2 GPAA1 GPHN GPT2 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2E2 GTF2H5 GUCY1A1 HACE1 HCN1 HCN2 HECW2 HNRNPK HNRNPU HYMAI IER3IP1 INS IREB2 JRK KANSL1 KARS1 KCNA1 KCNB1 KCNC2 KCNJ10 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KCTD7 KIF4A KNSTRN KPTN LAMA2 LGI1 LMNB2 LNPK LRPPRC MAPK1 MAPK10 MAPK8IP3 MARCHF6 MAST3 MBOAT7 MDH2 MECP2 MED13 MEGF8 MFSD8 MPLKIP MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTOR MYT1L NAA10 NADK2 NARS1 NBEA NDE1 NDUFA1 NDUFA13 NECAP1 NEDD4L NEU1 NEUROD2 NEXMIF NFKB2 NGLY1 NHLRC1 NSD1 NTNG1 NTRK2 NUBPL NUS1 OGDHL OPHN1 OSTM1 PACS2 PAFAH1B1 PAK3 PCDH12 PCDH19 PCYT2 PDX1 PEX2 PGAP1 PGAP2 PHGDH PIDD1 PIGA PIGM PIGP PIGQ PIGT PIK3CD PLAA PLAGL1 PLP1 PLPBP PMM2 PNKP PPFIBP1 PPP2CA PPP3CA PRDM8 PRICKLE1 PRMT7 PRORP PRRT2 PSAP PTEN PTRH2 PURA RAB11B RARS2 RELN RFX7 RNF113A RNU4ATAC RORB RPL10 SAMD12 SATB1 SATB2 SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SDHA SDHAF1 SDHB SDHD SEC31A SEPSECS SETBP1 SETD1B SETD2 SIK1 SLC12A5 SLC1A2 SLC1A4 SLC25A12 SLC25A15 SLC25A22 SLC2A1 SLC32A1 SLC35A3 SLC38A3 SLC6A1 SLC6A19 SLC9A6 SMARCA2 SMC1A SMPD1 SMS SON SPATA5 SPATA5L1 SRPX2 STAT3 STX1B STXBP1 SUCLA2 SYNGAP1 SZT2 TANGO2 TARS1 TBC1D24 TBCD TK2 TMX2 TRAPPC9 TREX1 TRIM8 TRIT1 TRMT10A TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB2B TUBB3 UBE3A VPS50 VPS53 WAC WDR26 WDR62 XK YARS1 YEATS2 YWHAG ZBTB18 ZEB2 HP_GENERALIZED_OSTEOPOROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOPOROSIS B3GAT3 CBS CCN6 CDC73 CHST3 COL1A1 COL1A2 COL2A1 GCM2 LMNA MEN1 MMP14 SATB2 SP7 STAT1 TENT5A TOM1 ZBTB20 HP_GENERALIZED_OSTEOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOSCLEROSIS CLCN7 CTSK DHCR24 LRP5 PHEX PLEKHM1 PTH1R SOST TCIRG1 HP_GENERALIZED_TONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_TONIC_SEIZURE ADGRV1 ARHGEF9 ARX CACNA1A CACNB4 CASK CDKL5 CHD2 COG2 COQ8A CPLX1 CUX2 DMXL2 DNM1 DOCK7 DPM1 EEF1A2 GABRA1 GABRB3 GABRG2 GNAO1 GNB1 GRIN1 GRIN2A GRM7 HCN2 KARS1 KCNA1 KCNQ2 KCNQ3 KCNT1 MAPK10 MDH2 NECAP1 NEUROD2 PACS2 PAFAH1B1 PCDH19 PIGP PIGQ PIGT PNKP PRRT2 RPL10 SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC1A2 SLC25A22 SLC32A1 SLC6A19 STXBP1 TANGO2 TBCD TRIM8 TUBA1A VPS50 HP_GENERALIZED_WEAKNESS_OF_LIMB_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_WEAKNESS_OF_LIMB_MUSCLES ALG14 ALG2 DPAGT1 GFPT1 GMPPB HP_GENETIC_ANTICIPATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENETIC_ANTICIPATION ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 CACNA1A SPAST TERT HP_GENITAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENITAL_NEOPLASM AAGAB AKT1 APC APC2 AR AURKA AXIN2 BARD1 BAX BCL10 BMPR1A BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CCND1 CDC73 CDH1 CDKN1B CDKN1C CDKN2A CEP57 CHEK2 COL14A1 COL4A5 COL4A6 COQ6 CREBBP CTNNB1 CYP11B1 DCC DHH DHX37 DICER1 DLC1 DMRT3 DOCK8 EP300 EPCAM EPHB2 ERBB2 EWSR1 FAN1 FGFR2 FGFR3 FH FLCN FLI1 FOXE1 GATA4 GREM1 HNF1B IDH1 IDH2 IGF2 KANSL1 KCNQ1 KCNQ1OT1 KEAP1 KIT KLF6 KLLN KRAS LMNA LZTR1 MAD1L1 MAP3K1 MBD4 MC2R MCC MDM2 MLH1 MLH3 MNX1 MRAP MRE11 MSH2 MSH3 MSH6 MXI1 NAB2 NBN NF2 NNT NR0B1 NR5A1 NRAS NSD1 NTHL1 OPCML PALB2 PALLD PAX6 PDE11A PDGFRL PIK3CA PLA2G2A PMS1 PMS2 POLD1 POLE PRKAR1A PRKN PTCH1 PTEN PTPN12 PTPRJ RABL3 RAD50 RAD51 RAD51C RAD51D RAD54B RELA RNASEL RNF43 RPS20 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SETD2 SLC6A17 SMAD4 SMARCB1 SOX9 SPRED1 SRC SRY STAG3 STAR STAT6 STK11 STS TGFBR2 TLR2 TP53 TRIP13 TXNRD2 USF3 VAMP7 VHL WNT10A WRN WT1 WWOX ZFHX3 ZFPM2 ZFTA HP_GENITAL_TRACT_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENITAL_TRACT_ATRESIA ARL6 BBS1 BBS12 CCDC28B DYNC2LI1 FGFR2 FRAS1 FREM1 FREM2 GATA3 GRIP1 ITGA8 KIF14 MKKS POR RSPO2 WNT3 WT1 HP_GENU_VALGUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VALGUM ACAN ACTA1 ADNP ARSB ARSK ATP7A ATRX B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BPNT2 BRAF BRF1 BUD23 CAMK2A CBFB CBS CCN6 CENPT CFL2 CHST3 CLCN7 CLIP2 COG5 COL10A1 COL11A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CSGALNACT1 CTC1 CTNS CYP19A1 DNAJC30 DYM DYNC2LI1 EIF2AK3 EIF4H ELN ENPP1 EVC EVC2 EXT1 EXT2 FBN1 FKBP6 FLNA FN1 GALNS GAN GLB1 GLI1 GNPTG GTF2I GTF2IRD1 GTF2IRD2 GUSB H3-3B HBB HEATR3 HERC2 HS2ST1 HS6ST1 HSPG2 IARS2 IDUA IFIH1 IFT172 IFT57 IL6ST IPO8 KAT6A KIF22 KIF7 KLHL41 KRAS LBR LIFR LIMK1 LMOD3 LONP1 MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MATN3 MCTP2 MEGF8 METTL27 MKRN3 MLXIPL MMP13 MPZ MTX2 NCF1 NDUFAF6 NEB NEPRO NF1 NKX3-2 NOTCH2 NPAP1 NSD1 OCRL ORC1 P4HTM PEPD PHEX PMP22 PRKACA PRKACB PRKG2 PUS3 PWAR1 PWRN1 RAB23 RAB33B RAD21 RFC2 RPGRIP1L RSPRY1 RUNX2 SERPINH1 SF3B2 SFRP4 SHOX SKI SLC10A7 SLC26A2 SNORD115-1 SNORD116-1 SPART SPTBN1 STX1A TBC1D7 TBL2 TFE3 TGDS TGFB1 TMEM270 TNFSF11 TONSL TPM2 TRPS1 TRPV4 TUBB3 UGP2 VDR VPS13B VPS37D ZBTB20 ZEB2 ZNF699 ZPR1 HP_GENU_VARUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VARUM ACAN ACTA1 ANAPC1 BGN CANT1 CCN6 CFL2 COL10A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CYP27B1 CYP2R1 CYP3A4 DDRGK1 DMP1 DYM EFL1 ENPP1 FGFR3 FN1 HPGD IDH1 IHH KAT6A KIF22 KLHL41 LMOD3 LTBP1 MATN3 MMP13 MMP9 NEB NKX3-2 ORC1 ORC6 PHEX POLR3A POLRMT PRKG2 RAB23 RBM8A RECQL4 RMRP RPL13 SHOX SLCO2A1 TCTN3 TONSL TPM2 TRIP11 TRPV4 UFSP2 VDR WDR62 XYLT1 HP_GEOGRAPHIC_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GEOGRAPHIC_ATROPHY APOE CFHR1 CFHR3 HGSNAT HMCN1 IMPDH1 NMNAT1 HP_GERMINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERMINOMA AKT1 CDH1 CTNNB1 DHH DICER1 ERBB2 FGFR2 IGF2 KEAP1 MAP3K1 OPCML PIK3CA PRKN STS HP_GERM_CELL_NEOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERM_CELL_NEOPLASIA AKT1 APC2 AR BCL10 CDH1 CDKN1C CDKN2A CHEK2 CTNNB1 DHH DHX37 DICER1 DMRT3 ERBB2 FGFR2 FGFR3 GATA4 IGF2 KCNQ1 KCNQ1OT1 KEAP1 KIT MAP3K1 MDM2 MNX1 MSH3 NR0B1 NR5A1 NSD1 OPCML PAX6 PDE11A PIK3CA PRKAR1A PRKN RNF43 SETBP1 SETD2 SOX9 SRY STK11 STS TP53 VAMP7 WT1 WWOX ZFPM2 HP_GIANT_CELL_HEPATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_CELL_HEPATITIS AKR1D1 AMACR HSD3B7 VIPAS39 VPS33B HP_GIANT_PLATELETS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_PLATELETS ABCG8 CD36 COG1 GP1BA GP1BB GP9 ITGA2B LBR MYH9 SLC35A1 HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS EPM2A MARCHF6 NHLRC1 SAMD12 SEMA6B STARD7 HP_GINGIVAL_BLEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_BLEEDING ADAMTS2 BCOR BLOC1S3 BLOC1S5 C1R C1S CAT ELMO2 F10 F13A1 F13B F2 F5 F7 F8 FCGR2C FGA FGB FGG FIP1L1 GBA1 GP1BA GP1BB GP9 HPS1 HPS3 IFNG IL18BP IRF2BP2 ITGA2B ITGB3 JAK2 KIF23 LMAN1 LYST MCFD2 MPL MYD88 NABP1 NPM1 NUMA1 PML PRF1 PRKAR1A RACGAP1 RARA SBDS SCARB2 SERPINF2 STAT3 STAT5B TBL1XR1 TERC TERT TET2 WAS WIPF1 ZBTB16 HP_GINGIVAL_FIBROMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_FIBROMATOSIS ABCA5 ANTXR2 ATP6V1B2 CDKN1A CDKN1B CDKN2B CDKN2C DHCR24 ELMO2 FAM20A FAM20C IFNG KCNH1 KCNMA1 KCNN3 MEN1 NOTCH3 PDGFRB REST SOS1 TSC1 TSC2 HP_GINGIVAL_OVERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_OVERGROWTH ABCA5 ABCC9 ADAMTS2 ADAMTS3 AFF3 AGA AIMP2 ANTXR2 ASXL3 ATG7 ATP6V1B2 BAZ1B BCL7B BCOR BGN BUD23 C1R C1S CCBE1 CD96 CLIP2 CNTNAP1 COL3A1 DDR2 DHCR7 DNAJC30 DNM1 DVL1 DVL3 EIF4H ELN EMC1 EXTL3 FAM20A FAM20C FAT4 FBXO28 FGF3 FGFR2 FIP1L1 FKBP6 FZD2 GLB1 GNAQ GNPTAB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GUSB HIVEP2 HYMAI IDS IDUA IER3IP1 INSR IRF2BP2 KCNH1 KCNJ6 KCNK4 KCNMA1 KCNN3 KIF1A KIF7 LBR LIMK1 LMNB1 MAN2B1 MAP1B METTL27 MGAT2 MLXIPL MMP14 MMP2 MYSM1 NABP1 NCF1 NEU1 NFIX NPM1 NUMA1 NXN OSTM1 PIGA PIGN PIGS PLAGL1 PLG PML PRKAR1A PRMT7 RALGAPA1 RARA REST RFC2 RIN2 RMRP ROR2 SATB2 SC5D SH3PXD2B SLC17A5 SLC29A3 SLC35C1 SOS1 STAT3 STAT5B STX1A TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TMCO1 TMEM270 TRIM8 TWIST2 USP9X VPS13B VPS37D WNT5A ZBTB16 ZEB2 ZNHIT3 HP_GINGIVAL_RECESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_RECESSION C1R C1S COL3A1 CTSC DSP FIG4 VAC14 HP_GINGIVITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVITIS ALMS1 B4GALT7 CAT CD40LG CLPB CLTRN COL3A1 CTSC CYBA CYBB CYBC1 ELANE ELOVL4 FERMT1 GFI1 GJB2 GJB6 IL6ST IRF9 ITGB2 KRT6A LYST NCF1 NCF2 NCF4 OCRL PLEKHM1 PLG SAMD9 SLC37A4 SLC6A19 SRP19 SRP54 STAT3 TCIRG1 HP_GLANDULAR_HYPOSPADIAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLANDULAR_HYPOSPADIAS HOXA13 MAMLD1 MKKS MTM1 MYMK MYMX SLC31A1 SRCAP HP_GLAUCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLAUCOMA ABCA4 ACVR1 ADA2 ADAMTS10 ADAMTS17 ADAMTS3 ADAMTSL1 ADAR AGBL5 AGK AHI1 AHR AKT1 ALDH1A3 ANKLE2 ANKRD55 ANTXR1 ARHGEF18 ARL2BP ARL3 ARL6 ARSB ARVCF ASB10 ATOH7 ATR ATRIP B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GAT1 BAZ1B BBS1 BBS2 BCL7B BCOR BDNF BEST1 BRD4 BTNL2 BUB1 BUB1B BUB3 BUD23 CA4 CANT1 CBS CC2D2A CCBE1 CCDC22 CCDC28B CD247 CDH11 CDHR1 CENPE CENPJ CEP152 CEP57 CERKL CFAP418 CHRDL1 CHST14 CHST3 CISD2 CLIP2 CLN3 CLRN1 CNGA1 CNGB1 COL11A1 COL18A1 COL2A1 COL3A1 COL4A1 COL8A2 COMT COX7B CRB1 CREBBP CRPPA CRX CRYAA CRYBA2 CRYBB3 CSGALNACT1 CYP1B1 DAG1 DCN DHCR7 DHDDS DHX38 DNA2 DNAJC30 DPYSL5 DSE EBP EFEMP1 EIF4H ELN EP300 ESCO2 EXOSC2 EYS FAM161A FAM50A FAS FAT4 FBN1 FGF10 FGFR2 FGFR3 FKBP6 FKRP FKTN FLNA FOXC1 FOXE3 FREM2 FSCN2 FUT8 FZD4 GATA1 GJA1 GJB3 GJB4 GLIS3 GMPPB GNAQ GP1BB GRHL2 GSN GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GZF1 HCCS HDAC8 HEATR3 HGSNAT HIRA HLA-DRB1 HRAS IDH3A IDH3B IDUA IFIH1 IFT140 IFT172 IFT88 IL2RA IL2RB IMPDH1 IMPG1 IMPG2 JMJD1C KCNA4 KDSR KIAA1549 KIF11 KIZ KLHL7 LARGE1 LIMK1 LMBRD2 LMX1B LOXL1 LRAT LRP5 LSM11 LTBP2 MAB21L1 MAF MAFA MAG MAK MASP1 MERTK METTL27 MFRP MLXIPL MYMK MYOC NAA10 NCAPG2 NCF1 NDP NDRG1 NDUFB11 NEK2 NF1 NFIX NHS NIPBL NLRP3 NOD2 NR2E3 NRL NTF4 NUP85 OCRL OFD1 OPTN OTX2 OVOL2 PAX6 PCARE PCNT PDE6A PDE6B PDE6G PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3C2A PIK3R1 PITX2 PLK4 PLOD1 POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRCD PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRSS56 PTCH1 PTCH2 PTEN PTPN2 PTPN22 PUS1 PXDN PYCR1 RAD21 RAX RBBP8 RBP3 RDH12 RECQL4 REEP6 RFC2 RGR RHO RHOA RIGI RLBP1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RRM2B RS1 RXYLT1 SAG SAMHD1 SBF2 SCAPER SEC24C SEMA4A SH3PXD2B SIX6 SKIC2 SKIC3 SLC25A4 SLC4A4 SLC7A14 SMC1A SMC3 SNRNP200 SOX2 SPATA7 SRY STAT4 STUB1 STX1A SUFU TBC1D20 TBL2 TBX1 TEK TGFB1 TIMP3 TKFC TMEM270 TMEM98 TOPORS TRAIP TREX1 TRIM44 TRIP13 TRPM3 TSR2 TTC8 TUB TULP1 TWIST1 UFD1 USH2A VCAN VPS35L VPS37D VSX1 WASHC5 WDR36 WFS1 WT1 XYLT1 YAP1 YARS2 ZEB1 ZMIZ1 ZNF408 ZNF469 ZNF513 ZSWIM6 HP_GLIOBLASTOMA_MULTIFORME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOBLASTOMA_MULTIFORME APC BMPR1A BRCA2 CDKN2A CHEK2 EPCAM ERBB2 FAN1 IDH1 KRAS MDM2 MLH1 MLH3 MSH2 MSH6 PIK3CA PMS1 PMS2 RPS20 SEMA4A TGFBR2 TP53 HP_GLIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOMA APC APC2 BMPR1A BRCA2 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 EPCAM ERBB2 FAN1 FGFR1 IDH1 IDH2 IFNG KRAS MDM2 MEN1 MLH1 MLH3 MSH2 MSH3 MSH6 NBN NF1 NF2 NSD1 PIK3CA PMS1 PMS2 POT1 PTEN RELA RPS20 SEMA4A SETBP1 SETD2 SMO SPRED1 TGFBR2 TP53 TSC1 TSC2 ZFTA HP_GLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOSIS ADAR ADH1C ADNP AKT3 AP4M1 ARX ATP6V1A ATXN2 ATXN3 ATXN8OS AVP BCS1L BRAT1 C9orf72 CHCHD10 CNTN2 COX15 CSF1R CYP27A1 DNAJC13 DTYMK DYRK1A EHMT1 EIF2B1 EIF4G1 ERCC6 ETFA ETFB ETFDH FARS2 FBXO7 FUS GBA1 GDAP2 GIGYF2 GLS GLUD2 GRN HSD17B4 HTT KARS1 KCNT1 KDM3B KMT2C L2HGDH LMNB1 LONP1 LRPPRC LRRK2 MAN2B1 MAPT MOCS1 MOCS2 MT-ATP6 MT-TT MTOR NARS2 NAXD NDUFS8 NGLY1 NR4A2 NUP54 NUP62 PAX2 PDHA1 PIGA PIK3CA PLA2G6 PLP1 PMPCA POLG PRKN PRNP PSEN1 RANBP2 SCO2 SERPINI1 SLC25A46 SNCA SNCAIP SQSTM1 TARDBP TBCD TBK1 TBP TFG THOC2 TLR3 TSEN54 TYROBP UBQLN2 VCP VPS35 VRK1 YY1 ZNF335 HP_GLOBAL_BRAIN_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBAL_BRAIN_ATROPHY ABCD1 ACTL6B AGTPBP1 AIMP1 ALG13 ALG9 ARX ASNS CAD CARS2 CHCHD10 CNPY3 COPB1 CSF1R CYB5A CYB5R3 CYLD CYP27A1 DHCR7 DOHH DPAGT1 ERCC6 FUS GABRA1 GABRG2 GFM1 GNB1 L2HGDH LYRM7 NAXE NUP214 OTUD5 PANK2 PCDH19 PIGT PLA2G6 PLP1 PNPO PRNP PSAP PUF60 PYCR2 RAB3GAP2 RNF113A SATB1 SCN1A SCN1B SCN2A SCN9A SMG9 SNCA SON SPATA5 SQSTM1 ST3GAL5 SUCLA2 TANGO2 TARDBP TBCK TBK1 TDP1 TIMM8A TPK1 TXN2 UNC80 VARS1 VCP WARS2 WDR81 HP_GLOBOZOOSPERMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBOZOOSPERMIA C2CD6 CCDC62 CT55 DPY19L2 GGN SPATA16 ZPBP HP_GLOMERULAR_DEPOSITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_DEPOSITS ARHGDIA CD151 CEP83 CFH CFHR5 COL4A3 COL4A4 COL4A5 COL7A1 DGKE FN1 GATA3 LMX1B MME MMP1 NOS1AP NUP107 RNU7-1 SPRY2 WDR19 HP_GLOMERULAR_SCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SCLEROSIS ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BSND CD2AP CLCN5 CLCNKB COL4A3 COQ2 COQ6 COQ8B CRB2 DAAM2 DLST DNMT3A ELP1 EMP2 EPAS1 FAH FH G6PC1 GAPVD1 GON7 INF2 ITGA3 ITGB4 JAG1 KIF1B KIRREL1 LAGE3 LAMA5 LMX1B MAGI2 MAX MDH2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTX2 MUC1 MYO1E NAA10 NARS2 NF1 NOS1AP NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PLCE1 PLEC PTPRO REN RET RNU7-1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC61A1 SGPL1 SLC12A3 SLC25A11 SLC37A4 SMARCAL1 TBC1D8B TMEM127 TP53RK TPRKB TREX1 TRIM8 TRPC6 VHL VPS33A WDR19 WDR4 WDR73 WT1 HP_GLOMERULAR_SUBEPITHELIAL_DEPOSITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SUBEPITHELIAL_DEPOSITS ARHGDIA CD151 CEP83 CFH COL4A3 COL4A4 COL4A5 DGKE GATA3 LMX1B NOS1AP RNU7-1 WDR19 HP_GLOMERULONEPHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULONEPHRITIS ACTN4 ALMS1 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BANK1 BLK C1QA C3 C4A C4B CASP10 CD2AP CD81 CFHR5 CFI COL4A3 COL7A1 COPA COQ8B CR2 CRB2 CTLA4 DAAM2 DGKE DNASE1 DNASE1L3 DNASE2 EMP2 ETS1 FAS FASLG FCGR2A FCGR2B FCGR3B FOXP3 GAPVD1 HLA-DRB1 IGHG1 IL10 INF2 IRAK1 IRF5 ITGAM JAK1 JAZF1 KANK2 KIAA0319L KIRREL1 LAGE3 LMNB2 LMX1B MAGI2 MECP2 MME MMP1 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PDCD1 PGM3 PLCE1 PRKCD PTPN22 PTPRO PXK RASGRP1 SLC37A4 SLC7A7 SMARCAL1 SOCS1 SOX18 SPP1 STAT4 TBC1D8B TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 TRIM8 TRPC6 UBE2L3 WDR19 WT1 ZAP70 ZNFX1 HP_GLOMERULOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULOPATHY ACSL4 AMMECR1 APOE C4A CCR1 CTLA4 DNASE1L3 ELP1 ERAP1 FAS FN1 FOXC2 GLA HLA-B HLA-DPA1 HLA-DPB1 HNF1B IFNGR1 IL10 IL12A IL12A-AS1 IL23R KCNE5 KLRC4 LMNA LMNB2 LMX1B LPIN2 MEFV MMACHC MT-TE MT-TK MT-TL1 MTRR OCRL PRTN3 PTPN22 SCARB2 STAT4 TLR4 UBAC2 WAS WIPF1 WT1 HP_GLOMUS_JUGULAR_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMUS_JUGULAR_TUMOR NF1 SDHAF2 SDHB SDHC SDHD HP_GLOSSITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSITIS AMN CLTRN CUBN HLA-B HLA-DRB1 LMBRD1 MMACHC P4HA2 PTPN22 SLC39A4 SLC46A1 SLC6A19 HP_GLOSSOPTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSOPTOSIS AFF4 BTK COG1 COL11A1 COL11A2 COL2A1 EDN1 EDNRA FIG4 FLNA GNAI3 MYMK MYMX NFASC NFIX PEX16 PLCB4 POLR1B POLR1C POLR1D RBM10 RSPO2 RUNX2 SLC35B2 SNRPB SOX9 TCOF1 TGDS VAC14 HP_GLUCAGONOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCAGONOMA CDKN1A CDKN1B CDKN2B CDKN2C GCGR MEN1 HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM CLCN2 KCNJ5 SCNN1A SCNN1B SCNN1G HP_GLUTARIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUTARIC_ACIDURIA D2HGDH ETFA ETFB ETFDH GCDH HMGCL SUGCT HP_GLYCOSURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLYCOSURIA ABCC8 ALDOB APPL1 ATP7B BLK CEL CLCN5 COA8 CTNS EHHADH ETFA ETFB ETFDH FAN1 GATA6 GATM GCK GYS2 HNF1A HNF1B HNF4A INS KCNJ11 KLF11 LMNA MT-TN MT-TS1 NDUFAF6 NEUROD1 NSMCE2 PAX2 PAX4 PBX1 PDX1 PIGA RRM2B SLC16A12 SLC2A2 SLC34A1 SLC5A1 SLC5A2 STAT3 SURF1 TRMT5 VIPAS39 HP_GOITER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOITER AKT1 ALMS1 CACNA1S CDH23 CDKN1A CDKN1B CDKN2B CDKN2C DICER1 DNAH1 DUOX2 DUOXA2 EYA1 FOXE1 FOXI1 GNAS HABP2 IDH1 IDH2 IYD KCNJ10 KCNJ18 KEAP1 KLLN MAD1L1 MEN1 MINPP1 MMP14 MMP2 NKX2-1 PAX8 PDE11A PIK3CA POLG POLG2 PRKAR1A PTEN RCBTB1 RET RRM2B SASH1 SDHB SDHC SDHD SEC23B SIX1 SLC25A4 SLC26A4 SLC5A5 SUGCT TG THRB TPO TRHR TSHB TSHR TWNK USF3 HP_GONADAL_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_DYSGENESIS AARS1 BMP15 BNC1 CARS1 DHH DHX37 DMRT3 ERCC2 ERCC3 FSHR GATA4 GTF2E2 GTF2H5 HSD17B4 MAP3K1 MINPP1 MPLKIP MRPS22 MSH4 NR0B1 NR5A1 NUP107 POLR3H PPP1R12A PPP2R3C PSMC3IP RNF113A RXYLT1 SOX9 SPIDR SRY TARS1 TOE1 TWNK VAMP7 WT1 WWOX ZFPM2 ZSWIM7 HP_GONADAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_NEOPLASM AKT1 APC2 AR BARD1 BCL10 BMPR1A BRCA1 BRCA2 BRIP1 CCND1 CDC73 CDH1 CDKN1B CDKN1C CDKN2A CHEK2 CREBBP CTNNB1 CYP11B1 DHH DHX37 DICER1 DMRT3 EP300 EPCAM ERBB2 EWSR1 FAN1 FGFR2 FGFR3 FLI1 FOXE1 GATA4 HNF1B IDH1 IDH2 IGF2 KANSL1 KCNQ1 KCNQ1OT1 KEAP1 KIT KRAS LMNA MAP3K1 MBD4 MC2R MDM2 MLH1 MLH3 MNX1 MRAP MRE11 MSH2 MSH3 MSH6 NBN NNT NR0B1 NR5A1 NSD1 OPCML PALB2 PALLD PAX6 PDE11A PIK3CA PMS1 PMS2 PRKAR1A PRKN PTCH1 PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RELA RNF43 RPS20 SEMA4A SETBP1 SETD2 SMAD4 SOX9 SPRED1 SRY STAG3 STAR STK11 STS TGFBR2 TP53 TXNRD2 VAMP7 VHL WNT10A WRN WT1 WWOX ZFPM2 ZFTA HP_GONADOBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOBLASTOMA CDKN1C DHH DHX37 DMRT3 GATA4 IGF2 KCNQ1 KCNQ1OT1 MAP3K1 NR0B1 NR5A1 PAX6 SOX9 SRY VAMP7 WT1 WWOX ZFPM2 HP_GONADOTROPIN_DEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOTROPIN_DEFICIENCY CHD7 FGFR1 FSHB GLI3 LHX3 NKX2-1 PCSK1 POMC HP_GOUT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOUT ANK1 APOE CLCNKB DNAJB11 EPB42 G6PC1 HNF1B HPRT1 LRP6 MUC1 PFKM PRPS1 SEC61A1 SLC12A3 SLC37A4 SLC4A1 SPTA1 SPTB UMOD HP_GOWERS_SIGN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOWERS_SIGN ACBD5 ACTA1 ALG14 ALG2 ASAH1 ATP6V1E1 BICD2 BIN1 CAV3 CFL2 CHKB CHRNA1 CHRNE COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DMD DNA2 DNAJB6 DOK7 DPAGT1 DPM3 FDX2 FKTN GATM GFPT1 GMPPB HACD1 INPP5K ITGA7 LAMA2 MICU1 MSTO1 MUSK MYPN NEFL ORAI1 PLEC PNPLA2 PNPLA8 POMGNT1 POMGNT2 POMK POMT1 PUS1 PYROXD1 RAPSN RNU12 RYR1 RYR3 SCN4A SECISBP2 SELENON SGCA SGCB SGCD SGCG SPEG SPTLC1 STAC3 SYNE1 TAFAZZIN TK2 TNNT1 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN UNC45B VAPB VMA21 HP_GRANULAR_MACULAR_APPEARANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULAR_MACULAR_APPEARANCE CFH CFI CHM EFEMP1 LCA5 LRAT PROM1 RPE65 SPATA7 HP_GRANULOCYTIC_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTIC_HYPERPLASIA ASXL1 CSF3R IRF8 KIT SRSF2 TET2 HP_GRANULOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTOPENIA AK2 ELANE RPS28 SF3B1 TAFAZZIN TET2 TLR8 UNC13D HP_GRANULOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMA ACP5 CYBB CYBC1 DNASE2 DOCK2 IRF8 NF1 PIK3CG HP_GRANULOMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMATOSIS ASAH1 CTLA4 CYBA CYBB HLA-DPA1 HLA-DPB1 NCF1 NCF2 PRTN3 PTPN22 HP_GRAVES_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAVES_DISEASE CACNA1S CLCNKB GABRA3 KCNJ18 SLC12A3 HP_GRAY_MATTER_HETEROTOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAY_MATTER_HETEROTOPIA ADD3 ADGRL1 AKT1 AKT3 ALDH6A1 ALG11 ANKLE2 ANKRD11 APC2 ARF1 ARFGEF2 ARMC9 ASPM ASXL1 B4GAT1 BLTP1 C2CD3 CDH2 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CEP85L CIT COL4A2 COPB2 CPLANE1 CPLX1 CRB2 CRPPA CSF1R CSGALNACT1 DCHS1 DCX DHCR7 DHX16 EML1 EPG5 ERMARD FAT4 FGFR3 FKRP FKTN FLNA FMR1 GGT1 GMPPB GPSM2 HNRNPK HYLS1 INTS8 KANSL1 KAT6B KAT8 KATNB1 KIF14 KIF2A KNL1 LAMA1 LAMB1 LMBRD2 MAN1B1 MAN2C1 MAP1B MAST1 MCM7 MCPH1 MED12 METTL5 MFSD2A MLH1 MPDZ MTOR NCAPD3 NEDD4L NRCAM NUP37 OFD1 PAFAH1B1 PDHB PEX1 PEX14 PHC1 PIK3CA PLCH1 PLK4 PMS2 POMGNT1 POMK POMT1 POMT2 PPFIBP1 PPP1R12A PRORP PTEN PYCR2 RALGAPA1 RNU4ATAC RTTN SARS1 SASS6 SLC25A24 SPEN STIL TAF13 TBC1D24 TMEM107 TMTC3 TRAPPC10 TRAPPC14 TUBA1A TUBB TUBB2B TUBG1 TUBGCP2 USP18 VPS35L WARS1 WDR62 ZEB2 ZMIZ1 ZNF292 ZSWIM6 HP_GYNECOMASTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GYNECOMASTIA AFF4 AIP AKT1 AKT2 ALMS1 ANOS1 AR AXL BMP6 CCDC141 CDH23 CHD7 COQ8A CPE CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DCC DES DHX37 DMRT3 DUSP6 ERMARD FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 GATA4 GNRH1 GNRHR HDAC8 HESX1 HFE HPGD HS6ST1 HSD17B3 HSD3B2 IL17RD ITGA3 KISS1 KISS1R KLLN LAS1L LEP LEPR LHB MAP3K1 MECP2 MEN1 NDNF NHLH2 NR0B1 NR5A1 NSMF PDE11A PHF6 PIK3CA PNPLA6 POLR3A PRKAR1A PROK2 PROKR2 PSMB8 PTEN RBM28 RNF216 RSPO1 SCN4A SDHB SDHC SDHD SEC23B SEMA3A SEMA3E SH3PXD2B SLC29A3 SLCO2A1 SMC5 SMCHD1 SOX10 SOX9 SPRY4 SPTBN1 SRA1 SRY STK11 TAC3 TACR3 TCF20 TMEM53 USF3 VAMP7 WDR11 WT1 WWOX ZBTB20 ZFPM2 HP_HAIR_PULLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAIR_PULLING EEF1A2 RFX7 SHANK3 SLC1A4 SLITRK1 VPS13A HP_HALITOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALITOSIS CFTR MAT1A SCNN1A SCNN1B SCNN1G SELENBP1 HP_HALLUCINATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUCINATIONS ABCA7 ADGRV1 ADH1C ALAD ALDH4A1 ALDH5A1 APOL2 APOL4 APP ARSA ARSG ATP13A2 ATXN2 ATXN8OS BCKDHA BCKDHB BCS1L BMPR1A BPTF C9orf72 CACNA1A CDH2 CDH23 CEP78 CEP85L CHCHD10 CHCHD2 CHI3L1 CIB2 CISD2 CLN3 CLN5 CLN6 CLRN1 CLTRN COMT CPOX CSF1R CTSH CYP27A1 DAOA DBT DCAF17 DEPDC5 DNAJC13 DNAJC5 DNAJC6 DNM1L DNMT1 DRD3 ECM1 EIF4G1 EPCAM EPM2A ESPN FAN1 FBXO7 FIG4 FUS GBA1 GIGYF2 GLUD2 GRN HARS1 HCRT HLA-DQB1 HLA-DRB1 HMBS HTR2A HTRA1 HTRA2 HTT JPH3 KRAS LGI1 LRRK2 MAN2B1 MAPT MED12 MLH1 MLH3 MMACHC MOG MSH2 MSH6 MT-TS2 MT-TT MTHFR MYO7A NDP NHLRC1 NPRL2 NPRL3 NR4A2 OPA1 P2RY11 PARK7 PCDH15 PDGFRB PDZD7 PIK3CA PINK1 PMS1 PMS2 PODXL PPOX PPT1 PRDM8 PRKN PRNP PSAP PSEN1 PSEN2 PSMD12 PUS3 RELN RPS20 RTN4R SEMA4A SLC25A13 SLC2A3 SLC6A19 SNCA SNCAIP SNCB SON SORL1 SPART SQSTM1 SYN2 SYNJ1 TARDBP TBK1 TBP TGFBR2 TNFSF4 TOMM40 TRANK1 TREM2 TRRAP TTC19 TTR UCHL1 UPF3B USH1C USH1G USH2A VCP VPS13C VPS35 WFS1 WHRN ZDHHC9 ZNF365 HP_HALLUX_VARUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUX_VARUS CHST11 FGF9 FGFR1 FGFR2 HOXA13 HP_HAMARTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA ACTB ACVR1 AKT1 APC BMPR1A CCND1 CDC73 CDKN1B CPLANE1 DIS3L2 DLST DYNC2LI1 FAM149B1 FGF3 FH GCDH GLI3 GREM1 IFNG KIAA0753 KIF1B KIF7 KLLN KRT1 KRT10 MAN2C1 MAX MDH2 MSH3 MSH6 MVK NEK9 NF1 NF2 OFD1 PDE6D PIK3CA PTCH1 PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SIX6 SLC25A11 SMAD4 SMO SOX2 SPRED1 STK11 TCTN3 TFAP2A TIAM1 TMEM127 TMEM216 TOPORS TSC1 TSC2 USF3 VHL VPS16 HP_HAMARTOMATOUS_POLYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMATOUS_POLYPOSIS AKT1 BMPR1A GREM1 KLLN MSH3 PIK3CA PTCH1 PTEN SDHB SDHC SDHD SEC23B SMAD4 STK11 USF3 HP_HAMARTOMA_OF_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_THE_EYE AKT1 CCND1 DLST FH IFNG KIF1B KLLN KRT1 KRT10 MAX MDH2 MSH6 NF1 NF2 PIK3CA PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SLC25A11 SPRED1 TMEM127 TSC1 TSC2 USF3 VHL HP_HAMARTOMA_OF_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_TONGUE C2CD3 CEP120 CPLANE1 DDX59 DYNC2H1 EDN1 FAM149B1 GNAI3 INTU KIAA0586 KIAA0753 KIF7 MAN2C1 NEK1 OFD1 PDE6D PLCB4 TCTN3 TMEM107 TMEM216 TMEM231 TOPORS WDPCP HP_HAMMERTOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMMERTOE AARS1 ADCY6 AEBP1 BCOR BMPER BSCL2 CHCHD10 CHP1 COA7 DCAF8 DHCR7 EGR2 ESCO2 FBN1 GARS1 GBF1 GDAP1 GNB4 HARS1 HSD17B4 INF2 ITPR3 KAT6A KIF1B LMNA LRSAM1 MAD1L1 MFN2 MORC2 MPV17 MPZ MYH8 NDRG1 NEFL NRCAM PDXK PEX7 PHYH PLEKHG5 PMP2 PMP22 PRX RAB7A REEP1 SACS SBF2 SH3TC2 SIGMAR1 SLC35A3 SPART SYT2 TOR1A TRPV4 VCP HP_HAMSTRING_CONTRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMSTRING_CONTRACTURES ABCD1 ACTA1 ANO5 CAPN3 DMD FHL1 LMNA OPA1 SELENON HP_HANDGRIP_MYOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HANDGRIP_MYOTONIA ACTA1 CLCN1 CNBP HINT1 PURA SCN4A HP_HAND_APRAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_APRAXIA CDKL5 GABBR2 MECP2 NTNG1 PLP1 SMC1A HP_HAND_CLENCHING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_CLENCHING ASXL3 ATP6V1E1 BCOR BICD2 BLTP1 CDK5 CNTNAP1 DST FLNB GLE1 GNB1 GRIK2 GTPBP2 HNRNPH1 KCNA1 KIDINS220 L1CAM MAPT MOGS MYOD1 NEB SCYL2 SLC6A9 SMG9 SYNE1 TBR1 TOR1A TPM2 WDR73 WWOX HP_HAND_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_ATROPHY ACTA1 ALS2 BSCL2 CAV3 CHCHD10 CHRNA1 COMP DCTN1 DYSF FLNC FXN GARS1 GBF1 GDAP1 HARS1 HINT1 HSPB3 IDUA ITPR3 JAG1 KANSL1 KIF1A KLHL9 LDB3 LMNA MARS1 MORC2 MPZ NEB NEFL NGLY1 PDK3 PLOD3 PMP22 PRX REEP1 RYR1 SLC12A6 SLC25A21 SLC39A13 SLC52A3 SLC5A6 SPG11 SPTLC1 SQSTM1 SVBP TFG TIA1 TIMM8A TRIM2 TRPV4 VCP HP_HAND_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_WEAKNESS AGRN AK9 BICD2 BSCL2 CADM3 CAV3 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DCTN1 DOK7 DYSF FLNC GARS1 GDAP1 GJB1 GNE GYG1 HARS1 HINT1 HSPB3 LAMB2 LDB3 LMNA LRP4 MARS1 MATR3 MFN2 MORC2 MUSK MYH7 NEB NEFL PDK3 PMP22 PNPLA2 POLG RAPSN REEP1 SBF2 SCN4A SQSTM1 TIA1 TK2 TTN YARS1 HP_HAND_OLIGODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_OLIGODACTYLY BHLHA9 CHD7 COL25A1 DLX5 ESCO2 KIF21A NIPBL PHOX2A PORCN RECQL4 RPL26 SF3B4 SMOC1 TUBA1A TUBB2B TUBB3 WNT10B WNT7A HP_HAND_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_POLYDACTYLY ABCA12 ACOX1 AHI1 AKT3 ALX3 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BLM BMPR1B C2CD3 CBY1 CC2D2A CCDC22 CCDC28B CCND2 CD96 CDC45 CEP104 CEP120 CEP19 CEP290 CEP41 CFAP418 CHD7 CHN1 CHSY1 CIBAR1 COMT CPLANE1 CPLX1 CSPP1 CTBP1 DACT1 DDX59 DEAF1 DHCR7 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EFNB1 EFTUD2 EVC EVC2 EXTL3 FAM149B1 FANCB FANCD2 FGFR2 FGFRL1 FLI1 FLII FLNA GDF5 GJA1 GLI1 GLI2 GLI3 GP1BB GPC3 GPC4 HEATR3 HEPACAM HESX1 HIRA HOXA13 HOXD13 HYLS1 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E IQCE IQSEC2 JMJD1C KATNIP KIAA0586 KIAA0753 KIAA0825 KIF7 LBR LETM1 LHX3 LHX4 LMBR1 LZTFL1 MAFB MAP3K20 MBTPS2 MEGF8 MKKS MKS1 NEK1 NELFA NPHP1 NSD2 OFD1 OTUD5 PDE6D PHF8 PIBF1 PIGG PIK3CA PIK3R2 PLAA PNPLA6 PORCN POU1F1 PRKACA PRKACB PROP1 PTEN PUF60 RAB23 RAI1 RBM10 RPGRIP1 RPGRIP1L RREB1 SALL1 SALL4 SC5D SCAPER SCLT1 SCNM1 SDCCAG8 SEC24C SETBP1 SH2B1 SHH SMO SMOC1 SUFU TBX1 TBX3 TCTN1 TCTN2 TCTN3 TFAP2A TFAP2B TGFBR1 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TRIM32 TTC21B TTC8 TWIST1 TXNDC15 UFD1 VPS35L WASHC5 WDPCP WDR19 WDR35 WNT7A ZIC3 ZNF141 ZNF423 ZNF699 HP_HAND_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_TREMOR AARS2 ABCB6 ADRA2B ANO3 ATP7B CAMTA1 CNTN2 CTNND2 DRD3 ERLIN2 FGF14 GBA2 GCK GJB1 KCNN2 MARCHF6 MARS1 MFN2 NEFL NGF NOP56 PDGFB PDK3 PHIP PLA2G6 PMP2 POLG RAB3GAP2 SAMD12 SLC6A17 SMN1 SMN2 SPTLC1 STUB1 TAF1 TBC1D24 TFG TOR1A TRAPPC6B TSHR VRK1 YEATS2 ZFR ZFYVE26 HP_HAPPY_DEMEANOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAPPY_DEMEANOR ADNP ADSL ASXL1 ATP10A DYRK1A GRIK2 HDAC8 OCA2 PRKAR1B RAB11B SATB2 SLC9A6 SNRPN TASP1 TBC1D23 TCF4 UBE3A WDR26 ZEB2 ZSWIM6 HP_HASHIMOTO_THYROIDITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HASHIMOTO_THYROIDITIS ADA2 C1S CDKN1B CLCNKB CTLA4 DCLRE1C FOXD3 IL18BP ITCH PI4KA PLCG2 POLG PTEN SEC23B SLC12A3 TBX2 TTC7A HP_HEADACHE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEADACHE ACP5 ACSF3 ACTA1 ACTN4 ACVRL1 ADA2 ADAMTS3 ADAMTSL1 ADAR ADRA2B AIP AKT1 ALPK1 ALX4 AMACR AMER1 ANKFY1 ANLN AP2S1 APC APOL1 APP ARHGAP24 ARHGDIA ASXL1 ATP1A2 ATP1A3 ATRX BAP1 BCAT2 BMPR1A BRAF C4A CACNA1A CACNA1D CASP10 CCM2 CCND1 CCR1 CD2AP CD46 CDC73 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CFH CFI CLCN2 CLCNKB CLTRN CNNM2 CNTN2 COL1A1 COL3A1 COL4A1 COL4A3 COL5A1 COL5A2 COPB1 COQ8B CORIN CPT2 CRB2 CSNK1D CTLA4 CTNNB1 CTNND2 CYB5R3 CYP11B1 CYP11B2 DAAM2 DEPDC5 DKK1 DLST DNAI1 DNM1L DNMT3A EDNRA ELANE EMP2 ENG EPAS1 EPCAM EPHB4 EPM2A EPOR ERAP1 ERF ESR1 F8 FAN1 FARSB FAS FASLG FGFR2 FGFR3 FH FLI1 FLT1 FRMD5 GABRG2 GAPVD1 GATA2 GBA1 GCDH GDF2 GNB2 GP1BA GP1BB GP9 GPR101 GRIN2A HACD1 HELLPAR HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HTR1A HTRA1 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R INF2 IRAK1 IRF3 ITGA7 JAG1 JAK2 KCNA1 KCNJ5 KCNK18 KCNQ2 KIF1B KIF23 KIT KL KLRC4 KRAS KRIT1 KYNU LGI1 LIG3 LPIN2 LRP5 LSM11 MAGI2 MAOA MAP3K20 MARCHF6 MAX MDH2 MECR MEFV MEN1 MLH1 MLH3 MLX MPL MRPS2 MSH2 MSH6 MSX2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MVK MYD88 MYL2 MYO1E MYORG NAGS NDP NF1 NF2 NFE2L2 NFIX NHLRC1 NLRP12 NLRP3 NOP56 NOTCH2 NOTCH3 NPHS1 NPHS2 NPPA NR3C1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OPA1 P4HA2 PAX2 PDCD10 PDGFB PDGFRB PEX11B PGK1 PIGA PIGT PIK3CA PLCE1 PMS1 PMS2 POLG POLG2 PRKCD PRORP PRRT2 PRTN3 PTEN PTPN22 PTPRO RACGAP1 RASA1 RASGRP1 RELA RELN RET RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF168 RNU7-1 RPS20 RRM2B RYR1 SAMD12 SAMHD1 SAT1 SCN1A SCN2A SCN5A SDHA SDHAF2 SDHB SDHC SDHD SELENON SEMA4A SH2B1 SH2B3 SLC12A3 SLC19A2 SLC1A3 SLC25A11 SLC25A4 SLC2A1 SLC39A14 SLC6A19 SMAD3 SMAD4 SMARCAL1 SMARCB1 SMARCE1 SMO SOST SPOP SPP1 SQOR SRPX2 SRSF2 STARD7 STAT4 STIM1 STOX1 SUFU TBC1D8B TBK1 TERT TET2 TGFB1 TGFBR2 THPO TICAM1 TLR3 TLR4 TLR7 TMEM127 TNF TNFRSF11A TNFRSF1A TP53 TPM2 TPM3 TRAF3 TRAF7 TRANK1 TREX1 TRPC6 TTR TWIST1 TWNK UBAC2 UNC93B1 USP48 USP8 VANGL1 VHL VSX1 WT1 YEATS2 ZFHX2 ZFTA HP_HEAD_BANGING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_BANGING DPAGT1 KAT5 MAPK1 PIGF RAI1 SNRPN SVBP TAOK1 VPS13A HP_HEAD_TITUBATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TITUBATION AARS1 ALS2 EIF2AK2 FUS GJC2 HIBCH HSPD1 KARS1 KIF1C LAMA1 LMNB1 NKX6-2 PI4KA PLP1 RNU12 SIGMAR1 SPG11 SPTBN1 SPTLC1 TMEM63A UCHL1 VPS13A HP_HEAD_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TREMOR AARS1 AFG3L2 ALS2 ANO3 CACNA1G CEP104 CIZ1 DNMT1 EIF2AK2 FUS GBA2 GJC2 HIBCH HSPD1 IFRD1 ITPR1 KARS1 KCNN2 KIF1C LAMA1 LMNB1 NEFL NKX6-2 NOP56 NOTCH2NLC NPTX1 PEX6 PI4KA PIK3R5 PLP1 PPP2R2B RNU12 SCP2 SETX SH3TC2 SIGMAR1 SPG11 SPTBN1 SPTLC1 STUB1 TMEM63A TRIM8 UCHL1 VPS13A HP_HEARING_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEARING_ABNORMALITY AAAS AARS1 ABCA12 ABCA4 ABCB6 ABCC1 ABCC6 ABCC8 ABCC9 ABCD1 ABHD12 ABHD5 ACO2 ACOX1 ACSL4 ACTB ACTC1 ACTG1 ACTN2 ACVR1 ACY1 ADAMTS3 ADAMTSL1 ADAT3 ADCY1 ADGRG1 ADGRV1 ADK ADPRS AFF4 AGBL5 AGO2 AGRN AHDC1 AHI1 AHR AHSG AIFM1 AIPL1 AK2 AKAP9 AKT1 ALAD ALDH18A1 ALG11 ALG12 ALG2 ALG3 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 AMER1 AMMECR1 ANAPC7 ANK2 ANKH ANKRD1 ANKRD11 ANOS1 ANTXR1 AP1B1 AP1S1 AP1S2 AP3D1 APC APC2 ARHGAP29 ARHGDIA ARHGEF18 ARHGEF38 ARID1A ARID1B ARID2 ARL2BP ARL3 ARL6 ARNT2 ARSA ARSB ARSG ARSL ARVCF ARX ASAH1 ASCL1 ASH1L ASPA ASPM ATG7 ATL1 ATL3 ATN1 ATOH1 ATP11A ATP1A2 ATP1A3 ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6V0A4 ATP6V1B1 ATP6V1B2 ATP7A ATP8B1 ATPAF1 ATPAF2 ATRX B3GALT6 B3GLCT BAG3 BAG5 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCAP31 BCL7B BCOR BCR BCS1L BDNF BDP1 BEAN1 BEST1 BICRA BMP1 BMP15 BMP2 BMP4 BNC1 BPNT2 BPTF BRAF BRCA1 BRCA2 BRD4 BRIP1 BSND BTD BTK BTRC BUB1 BUB1B BUB3 BUD23 C1QBP CA2 CA4 CABP2 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1I CALM1 CALM2 CALM3 CAP2 CARS1 CARS2 CASK CASZ1 CAT CATSPER2 CAV1 CAV3 CBFB CBL CC2D2A CCBE1 CCDC103 CCDC134 CCDC141 CCDC28B CCDC39 CCDC40 CCDC50 CCDC65 CCND1 CCNO CD109 CD151 CD164 CDC14A CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH1 CDH11 CDH23 CDHR1 CDK5RAP2 CDK8 CDON CDT1 CEACAM16 CEACAM3 CEACAM6 CEP19 CEP250 CEP290 CEP57 CEP78 CERKL CERS3 CERT1 CFAP221 CFAP298 CFAP300 CFAP418 CFAP74 CFTR CHAT CHCHD10 CHD4 CHD7 CHN1 CHRNG CHST14 CHST3 CHSY1 CIB2 CISD2 CLCA4 CLCN2 CLCN3 CLCN6 CLCN7 CLCNKA CLCNKB CLDN14 CLDN9 CLIC5 CLIP2 CLPP CLRN1 CLRN2 CLTC CNGA1 CNGB1 CNOT1 CNOT2 CNOT3 CNTNAP1 COA8 COBLL1 COCH COG1 COG4 COG5 COG7 COL11A1 COL11A2 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL4A3 COL4A4 COL4A5 COL4A6 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMT COQ2 COQ6 COQ7 COQ8A COX10 COX11 COX16 COX7B CPLANE1 CPLX1 CRB1 CREB3L1 CREBBP CRKL CRLS1 CRTAP CRX CRYAB CRYM CSPP1 CSRP3 CTBP1 CTC1 CTLA4 CTNNB1 CTNND1 CTSA CTSK CYP11B1 CYP11B2 CYP7B1 DAB1 DACT1 DARS2 DCAF17 DCC DCDC2 DCHS1 DCTN4 DDB2 DDR2 DDX11 DDX3X DDX59 DEAF1 DES DGUOK DHCR7 DHDDS DHODH DHX16 DHX38 DIABLO DIAPH1 DIAPH3 DISP1 DKC1 DKK1 DLG1 DLL1 DLST DLX4 DLX5 DLX6 DMD DMP1 DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNAL1 DNASE1L3 DNM1L DNMT1 DNMT3A DNMT3B DOLK DPAGT1 DPF2 DPH1 DPH2 DRC1 DSE DSG2 DSP DSPP DTYMK DUOX2 DUOXA2 DUSP6 DUX4 DUX4L1 DVL1 DVL3 DYM DYRK1A EBP ECE1 ECHS1 EDC3 EDN1 EDN3 EDNRA EDNRB EFL1 EFNB1 EFTUD2 EHMT1 EIF3F EIF4H EIF5A ELAC2 ELMO2 ELMOD3 ELN ELOVL1 ENPP1 EP300 EPAS1 EPB41L1 EPG5 EPHA10 EPRS1 EPS15L1 EPS8 EPS8L2 EPS8L3 ERAL1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESPN ESRP1 ESRRB EXOSC2 EXOSC8 EXT1 EYA1 EYA4 EYS FAM149B1 FAM161A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAS FAT4 FBN1 FBXW4 FBXW7 FDXR FEZF1 FGF10 FGF17 FGF3 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL2 FIBP FIG4 FITM2 FKBP10 FKBP14 FKBP6 FKTN FLCN FLII FLNA FLNB FLRT3 FMR1 FOXC1 FOXH1 FOXI1 FOXJ1 FOXP2 FOXRED1 FRAS1 FREM2 FRG1 FSCN2 FSHR FTO FUCA1 FUS FXN FZD2 FZD4 G6PC3 GAA GAB1 GABRD GALC GALE GALK1 GALNS GALNT2 GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA3 GATAD1 GATB GATC GBA1 GBA2 GCH1 GCK GCLC GDF3 GDF5 GDF6 GDNF GFER GGPS1 GIPC1 GIPC3 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB6 GJC2 GLA GLB1 GLI2 GLI3 GLIS3 GLYCTK GMNN GMPPA GMPPB GNAI3 GNAQ GNAS GNB1 GNPTAB GNRH1 GNRHR GNS GOSR2 GP1BA GP1BB GPC3 GPC4 GPRASP2 GPSM2 GRAP GREB1L GRHL2 GRHL3 GRIK2 GRIP1 GRM1 GRM7 GRXCR1 GRXCR2 GSC GSDME GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B GUCY2D GUSB GZF1 H3-3B H4C5 H4C9 HAAO HACE1 HAND2 HARS1 HARS2 HAX1 HCCS HDAC4 HDAC8 HECTD4 HESX1 HFE HGD HGF HGSNAT HIRA HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HNF1B HNRNPK HOMER2 HOXA1 HOXA11 HOXA2 HOXB1 HS2ST1 HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA2 HUWE1 HYDIN HYMAI IARS1 IARS2 IDH3A IDH3B IDS IDUA IFNG IFRD1 IFT140 IFT172 IFT27 IFT74 IFT88 IGBP1 IGF1 IKBKG IL11RA IL17RD ILDR1 IMPDH1 IMPDH2 IMPG1 IMPG2 INF2 INS INTU IQCB1 IQSEC2 IRF6 IRX5 ITGA2 ITGA2B ITGB3 ITGB6 ITM2B ITPR1 IYD JAG1 JAK2 JMJD1C JPH2 KANSL1 KARS1 KAT6B KCNAB2 KCNC3 KCNE1 KCNE2 KCNE5 KCNH1 KCNH2 KCNJ10 KCNJ11 KCNJ13 KCNJ16 KCNJ5 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ4 KDM3B KDM6A KDSR KIAA0586 KIAA0753 KIAA1549 KIF15 KIF1B KIF21A KIF5A KIF7 KISS1 KISS1R KIT KITLG KIZ KLHL7 KLLN KMT2C KMT2D KPTN KRAS KRT5 KYNU L2HGDH LAMA4 LAMB1 LARS1 LARS2 LCA5 LDB3 LETM1 LHFPL5 LHX1 LHX3 LHX4 LIG3 LIG4 LIMK1 LMNA LMNB1 LMNB2 LMOD2 LMX1A LMX1B LONP1 LORICRIN LOXHD1 LRAT LRP12 LRP2 LRP4 LRP5 LRRC32 LRRC56 LRTOMT LSS LTBP1 LUZP1 LZTFL1 LZTR1 MAD2L2 MADD MAF MAFB MAK MAN2B1 MAN2C1 MANBA MAP1B MAP2K1 MAP3K20 MAP3K7 MAPK1 MAPKAPK5 MARS1 MARS2 MARVELD2 MASP1 MAX MBTPS2 MCIDAS MCM2 MCTP2 MDH2 MECOM MED11 MED12 MED13L MEGF8 MEN1 MEOX1 MERTK MET METTL27 MFN2 MGAT2 MGP MIA3 MICOS13 MICU1 MID1 MIF MINAR2 MIR96 MITF MKKS MKS1 MLXIPL MMP23B MN1 MOGS MORC2 MPDZ MPEG1 MPL MPLKIP MPZ MPZL2 MRAS MRPS2 MRPS22 MRPS28 MRPS7 MSH4 MSL3 MSRB3 MSTO1 MSX1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFD1 MTRR MTSS2 MYBPC3 MYCN MYD88 MYH11 MYH14 MYH3 MYH6 MYH7 MYH9 MYMK MYO15A MYO3A MYO6 MYO7A MYO9A MYPN MYSM1 NAA10 NAGA NAGLU NALCN NARS2 NAXD NBN NCAPG2 NCF1 NDE1 NDNF NDP NDRG1 NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECTIN1 NEDD4L NEFL NEK1 NEK10 NEK2 NELFA NEU1 NEXN NF1 NF2 NFIX NHLH2 NHP2 NIPAL4 NIPBL NKX2-1 NLRP12 NLRP3 NME5 NME8 NMNAT1 NODAL NOG NOP10 NOP56 NOS1AP NOTCH2 NOTCH2NLC NOTCH3 NPHP1 NPM1 NPTX1 NR2E3 NR2F1 NR4A2 NR5A1 NRAS NRCAM NRL NRTN NSD1 NSD2 NSDHL NSMF NSUN2 NUBPL NUP107 NUP133 NUS1 NXN OAT ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDHL OPA1 OPA3 ORC1 ORC4 ORC6 OSBPL2 OSTM1 OTOA OTOF OTOG OTOGL OTUD5 OTUD6B OTX2 P2RX2 P4HA2 PALB2 PARN PAX1 PAX2 PAX3 PAX6 PAX7 PBX1 PCARE PCDH15 PCGF2 PCLO PCNA PCNT PCYT1A PDE1C PDE4D PDE6A PDE6B PDE6D PDE6G PDGFB PDGFRA PDGFRB PDK3 PDPN PDSS1 PDX1 PDZD7 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGM3 PHEX PHF6 PHOX2A PHOX2B PHYH PI4KA PI4KB PIEZO1 PIEZO2 PIGA PIGB PIGG PIGL PIGO PIGS PIGT PIGV PIK3C2A PIK3CA PIK3CD PIK3R1 PISD PITX2 PJVK PLA2G6 PLAA PLAGL1 PLCB4 PLCH1 PLN PLOD3 PLP1 PLS1 PLXND1 PMP22 PMPCB PNP PNPLA1 PNPLA2 PNPLA6 PNPT1 POGZ POLD1 POLG POLG2 POLR1B POLR1C POLR1D POLR3A POLR3GL POLR3H POLRMT POMGNT1 POMK POR PORCN POU1F1 POU3F4 POU4F3 PPCS PPFIBP1 PPIP5K2 PPP1CB PPP1R15B PPP2R3C PQBP1 PRCD PRDM12 PRDM16 PRDM5 PRF1 PRG4 PRKAR1A PRKCZ PRKDC PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRRX1 PRTN3 PSAP PSEN1 PSEN2 PSMB1 PSMC1 PSMC3 PSMC3IP PSMD12 PTCD3 PTCH1 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PTPRQ PTRH2 PUF60 PUS3 PUS7 PYCR2 QRSL1 RAB23 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RBM10 RBM20 RBM8A RBMX RBP3 RD3 RDH12 RDH5 RDX RECQL4 REEP6 RERE REST RET REV3L RFC1 RFC2 RFT1 RFWD3 RGR RHO RIC1 RILPL1 RIPOR2 RIT1 RLBP1 RMND1 RNASEH1 RNASET2 RNF113A RNF13 RNF135 RNF220 RNU12 ROBO1 ROBO3 ROM1 ROR1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPL10 RPL11 RPL3L RPS23 RPS26 RPS28 RPS6KA3 RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTTN RUNX2 S1PR2 SAG SALL1 SALL4 SARDH SBDS SBF2 SC5D SCAPER SCD5 SCLT1 SCN10A SCN1A SCN4B SCN5A SCP2 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SEC31A SELENOI SEM1 SEMA3A SEMA3C SEMA3D SEMA3E SEMA4A SERAC1 SERPINA1 SERPINB6 SETBP1 SETD1A SETD2 SF3B2 SF3B4 SGCD SGMS2 SGPL1 SGSH SH2B1 SH3TC2 SHANK3 SHH SHOC2 SIN3A SIN3B SIX1 SIX3 SIX5 SIX6 SKI SLC10A7 SLC11A1 SLC12A2 SLC12A3 SLC17A8 SLC18A3 SLC19A2 SLC25A1 SLC25A10 SLC25A11 SLC25A24 SLC25A4 SLC26A2 SLC26A4 SLC26A5 SLC26A9 SLC29A3 SLC30A9 SLC33A1 SLC35A2 SLC35C1 SLC39A14 SLC39A7 SLC39A8 SLC44A4 SLC4A11 SLC52A2 SLC52A3 SLC5A5 SLC5A7 SLC6A14 SLC7A14 SLC9A1 SLC9A3 SLITRK6 SLX4 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMG8 SMO SMPX SNAI2 SNAP25 SNAP29 SNRNP200 SNRPB SNTA1 SNX10 SNX14 SON SOS1 SOS2 SOST SOX10 SOX11 SOX2 SOX3 SOX4 SOX6 SOX9 SP7 SPAG1 SPARC SPATA5 SPATA5L1 SPATA7 SPEF2 SPEN SPG7 SPIDR SPNS2 SPOP SPRED1 SPRED2 SPRY4 SPTBN1 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRCAP SRD5A3 SREBF1 SRP54 SRP72 SRPX2 SRY ST3GAL5 STAC3 STAG2 STAMBP STAT3 STIL STK36 STRC STUB1 STX11 STX1A STXBP2 SUCLA2 SUCLG1 SUFU SULT2B1 SUMF1 SURF1 SYNE1 SYNE4 SYT2 TAC3 TACR3 TAF1 TAF1A TAFAZZIN TANGO2 TAOK1 TARDBP TARS1 TASP1 TBC1D24 TBCK TBK1 TBL1XR1 TBL1Y TBL2 TBX1 TBX15 TBX22 TBX4 TBX5 TCAP TCF12 TCIRG1 TCOF1 TCTN3 TDGF1 TDO2 TECTA TELO2 TERC TERT TET2 TFAP2A TFAP2B TG TGFB1 TGIF1 TGM1 THOC1 THOC2 THOC6 THRB THSD1 THUMPD1 TIMM8A TIMMDC1 TINF2 TK2 TKT TMC1 TMEM126A TMEM126B TMEM127 TMEM132E TMEM147 TMEM216 TMEM270 TMEM38B TMEM43 TMEM53 TMEM67 TMIE TMPO TMPRSS3 TNC TNFRSF11A TNFRSF11B TNFSF11 TNNC1 TNNI3 TNNT2 TNRC6B TOP3A TOPORS TP63 TPM1 TPM2 TPO TPRKB TPRN TRAF7 TRAPPC11 TRAPPC12 TRAPPC4 TRDN TRIM32 TRIOBP TRIP13 TRMT10A TRMT10C TRMU TRNT1 TRPS1 TRPV3 TRPV4 TRRAP TSC2 TSHZ1 TSPAN12 TSPEAR TSR2 TTC12 TTC19 TTC26 TTC8 TTN TTR TUB TUBA1A TUBB2B TUBB3 TUBB4B TULP1 TWIST1 TWIST2 TWNK TXNL4A TXNRD2 TYMP TYMS TYR UBA1 UBB UBE2A UBE2T UBE3C UBE4B UBR1 UFD1 UFM1 UGT1A1 UNC13D UNC45A UQCC2 USB1 USF3 USH1C USH1G USH2A USP45 USP48 USP53 USP7 USP9X VAC14 VAMP1 VARS1 VCL VCP VDR VEZF1 VHL VPS11 VPS13B VPS33B VPS37A VPS37D VPS4A VSX1 WAC WBP2 WDPCP WDR11 WDR37 WDR81 WFS1 WHRN WNT10B WNT4 WNT5A WRAP53 WT1 XPA XPC XPNPEP3 XRCC2 XRCC4 XYLT2 YAP1 YARS1 YME1L1 YY1 ZBTB20 ZEB2 ZFP57 ZIC1 ZIC2 ZMIZ1 ZMPSTE24 ZMYND10 ZNF407 ZNF408 ZNF462 ZNF469 ZNF513 ZNF526 ZNF699 ZSWIM7 HP_HEART_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEART_BLOCK ABCC9 ACADVL ACTC1 ACTN2 AGXT AKAP9 ATP6V1A ATP6V1E1 BANF1 BRAF BTNL2 BVES CACNA1C CACNA1D CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CDC45 CDH2 CITED2 CNBP CPT2 CTNNA3 DEF6 DES DMPK DOHH DSG2 DTNA DYSF EMD EXOSC5 FHL1 FLNC GABRA3 GATA4 GATA6 GJA5 GLA GNAI2 GNB2 GNB5 GPC3 GPC4 GPD1L GPX4 GRIN1 GYG1 HCN4 HLA-DRB1 JUP KCND3 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNK3 KCNQ1 LAMP2 LARS2 LDB3 LEMD2 LMNA LMOD2 LRP1 MMP14 MMP2 MT-ATP8 MT-CYB MT-TL1 MYBPC3 MYH6 MYH7 MYL2 MYL4 MYOZ2 MYPN NKX2-5 NPPA PEX7 PHYH PIGU PKP2 PLEC POLG2 POMT2 PPP1CB PRKAG2 PRKG2 PSEN1 PSEN2 PTPN11 RAF1 RANGRF RMRP RNASEH1 RRM2B RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SEMA3A SGO1 SLC25A20 SLC4A3 SLMAP SYNE1 SYNE2 TBX20 TBX5 TLL1 TMEM43 TNNC1 TNNI3K TNNT2 TRDN TRPM4 TTN TTR VEZF1 HP_HEAT_INTOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAT_INTOLERANCE ALOXE3 CLDN10 EDA EDAR EDARADD HNRNPK ITPR2 KRT14 KRT5 LBX1 LDHA MAP2K1 MAP2K2 MBTPS2 NECTIN4 NFKBIA OCA2 ORAI1 POFUT1 POGLUT1 PSENEN SHANK3 UBE3A HP_HEINZ_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEINZ_BODIES CASK G6PD GPX1 HBA1 HBA2 HBB HP_HELICOBACTER_PYLORI_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HELICOBACTER_PYLORI_INFECTION CARMIL2 CORIN FLT1 IFNGR1 STOX1 HP_HEMANGIOBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOBLASTOMA BMPR1A CCND1 DLST FH KIF1B MAX MDH2 NF1 PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL HP_HEMANGIOMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOMATOSIS ACVRL1 AKT1 CCND1 EIF2AK4 ENG FGFR1 FGFR2 GDF2 GNAQ IDH1 IDH2 KRAS PIK3CA PTEN PTH1R RASA1 SLC26A2 SMAD4 TEK VHL HP_HEMATEMESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATEMESIS ACVRL1 ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX ENG FGA FGB FGG GP1BA GP1BB GP9 IFIH1 MED12 MEN1 PKHD1 WAS WIPF1 HP_HEMATOCHEZIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOCHEZIA ACVRL1 AMACR APC ARPC1B BMPR1A CYP7B1 ENG F5 GREM1 HPS1 IFIH1 IL10RA PLVAP PTEN RBCK1 SMAD4 TAOK1 TTC7A WAS WIPF1 HP_HEMATOLOGICAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOLOGICAL_NEOPLASM AAGAB ABL1 ADA ADA2 ADAR ADH5 ALAD ANAPC1 APC APC2 ARHGAP26 ASXL1 ATM ATRX BAX BCL10 BCL2 BCL6 BCR BIRC3 BLM BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 CALR CASP10 CBL CCND1 CD19 CD27 CD28 CD70 CD81 CDKN2A CEBPA CEP57 CHD7 CHEK2 CHIC2 CLPB COL14A1 CR2 CREBBP CSF3R CTC1 CTLA4 CTPS1 DCLRE1C DDX41 DEF6 DIAPH1 DKC1 DNAJC21 DNASE1L3 DNMT3A DUT DYNC2LI1 EFL1 ELANE EP300 ERBB3 ERCC4 ETV6 EVC EVC2 F13A1 F13B FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FCHO1 FLT3 FOXP1 GATA1 GATA2 GBA1 GFI1 GINS1 GLI1 GNB1 H4C9 HAVCR2 HAX1 HEATR3 HLA-DQA1 HLA-DQB1 HLA-DRB1 HSCB HSPA9 ICOS IDH1 IFIH1 IGHG2 IGKC IKZF1 IKZF3 IL2RG IL6ST IL7R IRF2BP2 ITK JAK2 KIF11 KIT KLHDC8B KRAS LIG4 LPP LRBA LSM11 LZTR1 MAD2L2 MAGT1 MALT1 MAP2K1 MBD4 MCM4 MDM2 MEFV MLH1 MLLT10 MPL MS4A1 MSH2 MSH6 MYC MYD88 MYSM1 NAF1 NAGS NBEAL2 NBN NF1 NFATC2 NFKB1 NFKB2 NHP2 NOP10 NPM1 NRAS NSD1 NSUN2 NTHL1 NUMA1 NUP214 NUTM1 PALB2 PARN PDGFRA PDGFRB PGM3 PICALM PIGL PIK3CA PIK3CD PIK3R1 PMS2 PNP POLE POT1 PRF1 PRKACA PRKACB PRKCD PTEN PTPN11 PTPRC RAD51 RAD51C RAD54B RAD54L RAF1 RAG1 RAG2 RARA RASGRP1 RB1 RECQL4 RFWD3 RHOH RMRP RNASEH2A RNASEH2B RNASEH2C RNF43 RNU7-1 RPA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 RUNX1 SAMD9 SAMD9L SAMHD1 SBDS SCN10A SCN11A SCN9A SETBP1 SETD2 SF3B1 SH2B3 SH2D1A SH3GL1 SLX4 SMARCAL1 SMARCD2 SMPD1 SOCS1 SPRED1 SRP19 SRP54 SRP72 SRSF2 STAT3 STK4 STS SYK TAL1 TAL2 TCF3 TCF4 TCIRG1 TERC TERT TET2 THPO TINF2 TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF9 TNFSF12 TP53 TP63 TREM2 TREX1 TRIP13 TSR2 TTC7A TYMS TYROBP UBA1 UBE2T USB1 WAS WIPF1 WRAP53 XIAP XRCC2 XRCC4 ZAP70 HP_HEMERALOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMERALOPIA ATXN7 CEP78 CNGA3 GRM6 GUCY2D IFT172 NR2E3 NYX TULP1 HP_HEMIANOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIANOPIA AARS1 ADGRV1 AIP AKT1 AKT3 AMACR ARSG BAP1 BRAF CDH23 CEP78 CIB2 CLRN1 CTNNB1 EIF2B3 ESPN GNAQ GPR101 HARS1 MEN1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTOR MYO7A NF2 PCDH15 PDGFB PDZD7 PIK3CA POLG PRORP SETD5 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TREX1 TUBB2B USH1C USH1G USH2A WHRN HP_HEMIATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIATROPHY BPTF EBP EFNB1 HRAS PSMD12 ZNF699 HP_HEMIFACIAL_SPASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIFACIAL_SPASM AKT1 BAP1 INPP5E NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_HEMIHYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIHYPERTROPHY AKT1 AKT2 CDKN1C DNMT3A H19 HNF1B HRAS IGF2 KCNQ1 KCNQ1OT1 KRAS NRAS PIK3CA RASA1 RNF125 ZNF699 HP_HEMIMEGALENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIMEGALENCEPHALY AKT3 DEPDC5 HRAS IFNG KRAS MTOR NPRL2 NPRL3 NRAS PIK3CA PTEN SMO TSC1 TSC2 HP_HEMIPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPARESIS ABCD1 ADA2 AGR2 AKT1 AKT3 AMACR ANGPTL6 ARHGAP31 ATP1A2 ATP1A3 BAP1 C4A CACNA1A CCR1 CFH CFHR1 CFHR3 COL3A1 COL4A1 CYP26C1 DCC DLL4 DNM1L DOCK6 ENG EOGT ERAP1 FAS FGFR1 GBE1 GNAQ GUCY1A1 HLA-B HLA-DQB1 HMGCL HRAS HTRA1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 KRAS MEFV MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTOR NF2 NOTCH1 NOTCH3 OPA1 PDGFB PIK3CA PLA2G6 PRNP PRORP PRRT2 RBPJ RHOBTB2 SCN1A SLC1A3 SLC2A1 SMARCAL1 SMARCB1 SMARCE1 SMO SP110 SPATA5L1 SPOP STAT4 SUFU TBC1D24 TBK1 TBX1 TERT TGFBR3 THSD1 TLR3 TLR4 TPP2 TRAF7 TREX1 TSC1 TSC2 TTR TUBB2B UBAC2 WDR62 HP_HEMIPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA ADA2 ADSL ARX ATP1A2 ATP1A3 CACNA1A COL4A1 COL4A2 COQ2 CTC1 CTLA4 DOCK8 FGFR1 FUCA1 GALC GNAQ GNB1 HLA-DPA1 HLA-DPB1 IRAK1 KRAS MT-CYB NOTCH3 NPPA PAH PRF1 PRRT2 PRTN3 PTPN22 SAT1 SCN1A SCN5A SLC1A3 SMARCAL1 SNORD118 SPP1 STAT4 SUOX TBC1D24 HP_HEMIPLEGIA_HEMIPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA_HEMIPARESIS ABCC6 ABCD1 ADA2 ADAR ADSL AGR2 AIPL1 AKT1 AKT3 AMACR ANGPTL6 ARG1 ARHGAP31 ARNT2 ARX ATP1A2 ATP1A3 B3GALNT2 BAP1 BMPR1A C4A CACNA1A CASZ1 CBS CCR1 CEP290 CFH CFHR1 CFHR3 COL3A1 COL4A1 COL4A2 COQ2 CPT1A CRB1 CRPPA CRX CTC1 CTLA4 CYP26C1 DCC DLL4 DNASE1L3 DNM1L DOCK6 DOCK8 ENG ENPP1 EOGT EPCAM ERAP1 FAN1 FAS FGFR1 FKRP FKTN FUCA1 GABRD GALC GBE1 GDF3 GDF6 GMPPB GNAQ GNB1 GON7 GUCY1A1 GUCY2D HESX1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HMGCL HPRT1 HRAS HSPG2 HTRA1 IFIH1 IFNGR1 IFT140 IKBKG IL10 IL12A IL12A-AS1 IL23R IMPDH1 IQCB1 IRAK1 KCNAB2 KCNJ13 KLRC4 KRAS L1CAM LAGE3 LARGE1 LCA5 LRAT LSM11 LUZP1 MEFV MEOX1 MLH1 MLH3 MMP23B MMUT MSH2 MSH6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTOR NAGA NF2 NMNAT1 NOTCH1 NOTCH3 NPPA NUP107 NUP133 OPA1 OSGEP OTX2 PAH PCYT1A PDGFB PDGFRB PDPN PEX7 PHYH PIK3CA PLA2G6 PMS1 PMS2 PNPLA6 POMGNT1 POMT1 POMT2 PRDM16 PRF1 PRKCZ PRNP PROKR2 PRORP PRRT2 PRTN3 PTEN PTPN22 RBPJ RD3 RDH12 RERE RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNF216 RNU7-1 RPE65 RPGRIP1 RPS20 RRM2B SAMHD1 SAT1 SCN1A SCN5A SEMA4A SKI SLC12A6 SLC1A3 SLC2A1 SMARCAL1 SMARCB1 SMARCE1 SMO SNORD118 SOX2 SOX3 SP110 SPATA5L1 SPATA7 SPEN SPOP SPP1 STAT4 SUFU SUOX TBC1D24 TBK1 TBX1 TERT TGFBR2 TGFBR3 THSD1 TLR3 TLR4 TP53 TP53RK TPP2 TPRKB TRAF7 TREX1 TSC1 TSC2 TTPA TTR TUBB2B TUBB4B TULP1 UBAC2 UBE4B USP45 WDR4 WDR62 WDR73 YRDC HP_HEMIVERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIVERTEBRAE ACTB ATP6V1B2 ATRX B3GLCT CAPN15 CCDC22 CDK10 CHD7 DLK1 DLL3 DPP9 DPYSL5 DVL1 DVL3 EBP EIF5A FANCB FGFR1 FZD2 GLI3 H3-3B HES7 IKBKG JAG1 KDM6A KMT2D KYNU LRP4 LYSET MADD MBD5 MBTPS2 MEG3 MESP2 MYH3 ORC1 PAICS POR PTCH1 PTCH2 PTDSS1 PUF60 RAD21 RIPPLY2 ROR2 RTL1 SEMA3E SF3B2 SIX6 SON SOX2 STAG2 SUFU TBC1D24 TBX2 TBX6 TMCO1 VPS35L WASHC5 WNT5A WNT7A HP_HEMOGLOBINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOGLOBINURIA ALDOA CASK CD46 CD59 CFH CFI G6PD HELLPAR NT5C3A PIEZO1 PIGA PIGT HP_HEMOLYTIC_UREMIC_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOLYTIC_UREMIC_SYNDROME ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR3 CFI COG1 DGKE MMACHC MTRR PRDX1 THBD TMEM165 ZNFX1 HP_HEMOPHAGOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPHAGOCYTOSIS CALR CD27 DNASE2 HAVCR2 IFNG ITK JAK2 LYST MPL PIK3CG PRF1 RAB27A SH2B3 SH2D1A SLC7A7 STX11 STXBP2 TLR8 UNC13D XIAP ZNFX1 HP_HEMOPTYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPTYSIS ACTA2 ACVRL1 BTNL2 C4A CCR1 CEACAM3 CEACAM6 CFTR CLCA4 CLEC7A COL3A1 COL5A1 COL5A2 CTLA4 DCTN4 DNASE1L3 EDNRA EIF2AK4 ELN ENG ERAP1 F5 FAS FBN1 FCGR2A FOXE3 GCLC GDF2 GIMAP5 GSTM3 HEY2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R KCNN4 KLRC4 LOX MAT2A MEFV MFAP5 MIF MLX MYH11 MYLK ODAD1 PRKG1 PRTN3 PTPN22 SCNN1A SCNN1B SCNN1G SERPINA1 SLC11A1 SLC26A9 SLC34A2 SLC6A14 SLC9A3 SMAD2 SMAD3 SMAD4 STAT4 STX1A TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLL1 TLR4 TRAF3IP2 TSC1 TSC2 UBAC2 HP_HEMORRHAGE_OF_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMORRHAGE_OF_THE_EYE ABCC6 APOE ARPC1B ATOH7 ATP6V0A2 ATP6V1A ATP6V1E1 BAP1 BEST1 CAPN5 CFH CFHR1 CFHR3 CFI COL4A1 CTNNB1 CYSLTR2 DNM2 DST EFEMP1 ENPP1 ERCC6 ERCC8 FZD4 GCDH GNA11 GNAQ HMCN1 IFNG IKBKG LAMB2 LRP5 MYD88 NDP PRF1 PROC RANBP2 RB1 RS1 SBDS SF3B1 SMC5 TERC TERT TREX1 TSPAN12 XYLT1 XYLT2 ZEB2 ZNF408 HP_HEMOTHORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOTHORAX COL3A1 EIF2AK4 ENG EXT1 EXT2 SERPINF2 HP_HEPARAN_SULFATE_EXCRETION_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE GNS GUSB HGSNAT IDS IDUA NAGLU NGLY1 SGSH VPS33A HP_HEPATIC_BRIDGING_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_BRIDGING_FIBROSIS ATP6AP1 CYP7B1 DCDC2 FADD KIF12 LIPA RINT1 SCYL1 TULP3 USP53 HP_HEPATIC_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_CYSTS ALG5 ALG8 ALG9 BICC1 CC2D2A DNAJB11 EXTL3 GANAB IFNG IFT122 IFT140 JAK1 LRP5 NEK8 NPHP3 OFD1 PKD1 PKD2 PKHD1 SEC63 TSC1 TSC2 TTC21B WDR19 HP_HEPATIC_ENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_ENCEPHALOPATHY ALMS1 DLD EIF2AK3 FOCAD NBAS PCK1 RINT1 RYR1 SH2D1A SLC25A13 TULP3 XIAP ZNFX1 HP_HEPATIC_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FAILURE ABCD3 ACAD9 ACTG2 ACVRL1 AKR1D1 ALDOB ALMS1 AMACR ASAH1 ATP7B ATRX BAAT BMP6 BTNL2 CACNA1S CALR CC2D2A CCDC115 CLDN1 COG4 COQ2 COX16 CPT1A CPT2 CTC1 CYC1 CYP7B1 DAXX DCDC2 DEF6 DGUOK DKC1 DLD EIF2AK3 ENG EPM2A F13A1 F13B F5 FAH FECH FH FOCAD GALT GBA1 GBE1 GDF2 GFM1 GPR35 H4C3 HADH HADHA HADHB HFE HLA-B HLA-DRB1 HSD3B7 IARS1 IFT122 IFT172 IKZF1 IL12A IL12RB1 IL18BP IL21R INPP5E IRF5 ITCH JAG1 JAK2 KRT18 LARS1 LIPA MARS1 MED12 MEFV MMEL1 MPI MPV17 MRM2 MRPS7 MST1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TT MT-TV MT-TW NBAS NDUFS4 NHLRC1 NHP2 NOP10 NPC1 NPM1 NR1H4 OSTM1 OTC P4HA2 PARN PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGA POLG POLG2 PORCN POU2AF1 PTPN22 RBM10 RINT1 RPGRIP1L RTEL1 RYR1 SC5D SCYL1 SEMA4D SERPINA1 SH2D1A SKIC3 SLC25A15 SLC25A20 SLC2A2 SLC7A7 SMAD4 SMPD1 SP110 SPIB TCF4 TERC TERT TFAM TINF2 TJP2 TMEM67 TNFSF15 TNPO3 TRMU TYMS UBR1 UGT1A1 USB1 WRAP53 XIAP ZNFX1 HP_HEPATIC_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FIBROSIS ABCB4 ABCD3 ACADVL AGL ALG9 ALMS1 ANKS6 AP1S1 ARHGAP31 ARL6 ASAH1 ASL ATP6AP1 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L CC2D2A CCDC28B CEP164 CEP19 CEP290 CFAP418 CLDN1 CP CSPP1 CTNNB1 CYP7B1 DCDC2 DGUOK DLL4 DNASE2 DOCK6 DPM1 DYNC2H1 DYNC2I1 DYNC2I2 DZIP1L EOGT FADD GBA1 GLIS3 GPD1 GPR35 HAMP HBB HJV IARS1 IFT122 IFT140 IFT172 IFT27 IFT74 IFT80 IL12A IL12RB1 INPP5E INSR INVS IQCB1 IRF5 KIF12 KIF3B LIPA LZTFL1 MARS1 MED12 MET MKKS MKS1 MMEL1 MPI MST1 MTTP NEK1 NEK8 NGLY1 NHP2 NOP10 NOTCH1 NPHP1 NPHP3 NPHP4 OFD1 PEX1 PHKA2 PHKB PHKG2 PKHD1 PLIN1 PMM2 PNPLA6 POU2AF1 PRIM1 PTRH2 PYGL RBCK1 RBPJ RINT1 RNU7-1 RPGRIP1 RPGRIP1L SCAPER SCLT1 SCYL1 SDCCAG8 SEMA4D SKIC2 SKIC3 SLC25A13 SLC51A SLC51B SPIB STN1 TALDO1 TCF4 TCTN1 TCTN2 TCTN3 TERT TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TNFSF15 TNPO3 TRAF3IP1 TRIM32 TTC26 TTC8 TULP3 TXNDC15 UBR1 UNC45A USP53 WDPCP WDR19 WDR35 HP_HEPATIC_NECROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_NECROSIS ACADVL CTNNB1 DGUOK ETFA ETFB ETFDH HADH MET MPV17 NHLRC2 SDHD TERC TERT TINF2 HP_HEPATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATITIS ACP5 AIRE AKR1D1 ALMS1 AMACR APC ATP7A ATP7B AXIN1 BLNK BTK C1S C4B CASP10 CASP8 CD247 CD3D CD3E CD40LG CD79A CD79B CIITA CLEC7A COG6 COG8 CTNNB1 CYP7A1 CYP7B1 FAS FASLG FOXP3 GLIS3 GNAS GPR35 GUSB HBB HSD3B7 IFIH1 IGF2R IGHG2 IGHM IGKC IGLL1 IL12A IL12RB1 IL17F IL17RA IL17RC IL18BP IL21R IRF5 ITCH KRT18 LRRC8A MET MMEL1 MST1 PDGFRL PGM1 PI4KA PIEZO1 PIK3CA PIK3R1 POU2AF1 PRKCD RASGRP1 RFX5 RFXANK RFXAP SEMA4D SERPINA1 SH2D1A SHPK SKIC2 SLC25A15 SLC39A7 SPI1 SPIB STAT1 SYK TBX19 TCF3 TCF4 TNFSF15 TNPO3 TOM1 TP53 TPP2 TRAF3IP2 TTC7A VIPAS39 VPS33B XIAP HP_HEPATOBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOBLASTOMA APC ARID1A ARID1B ARID2 CDKN1C DLK1 DPF2 DZIP1L GPC3 GPC4 IGF2 KCNQ1 KCNQ1OT1 MEG3 PKHD1 RTL1 SETBP1 SKIC2 SKIC3 SLC37A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 HP_HEPATOCELLULAR_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_ADENOMA ABCC8 APPL1 BLK CEL GCK GNAS HNF1A HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PHKA2 PHKB PHKG2 SLC37A4 HP_HEPATOCELLULAR_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_CARCINOMA ABCB11 ABCB4 AHCY APC ATP7B AXIN1 BMP2 BMP6 BMPR1A BTK CASP10 CASP8 CPOX CTNNB1 EPCAM F5 FAH FAN1 FAS FASLG G6PC1 GIMAP5 GPR35 HBB HFE HMBS IGF2 IGF2R IL12A IL12RB1 IRF5 JAG1 JAK2 KRAS MET MLH1 MLH3 MMEL1 MPV17 MSH2 MSH6 MST1 PDE11A PDGFRL PHKB PIK3CA PMS1 PMS2 POU2AF1 PPOX PRKAR1A PRKCD PYGL RASGRP1 RPS20 SEMA4A SEMA4D SERPINA1 SLC25A13 SLC2A2 SLC37A4 SPIB SPRTN TCF4 TGFBR2 TJP2 TNFSF15 TNPO3 TP53 TULP3 UROD HP_HEPATOMEGALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOMEGALY ABCA1 ABCA12 ABCB11 ABCB4 ABCC2 ABCC8 ABCD3 ABHD5 ACADM ACADVL ACAT1 ACOX1 ADA ADA2 ADAMTSL2 ADAR AGA AGGF1 AGL AGPAT2 AGR2 AKR1D1 AKT2 ALDH1A2 ALDOA ALDOB ALG1 ALG13 ALG2 ALG8 ALG9 ALMS1 AMACR ANK1 ANKRD55 ANTXR1 AP3B1 AP3D1 APOA1 APOC2 APOE ARG1 ARL13B ARSB ASAH1 ASL ASS1 ASXL1 ATAD3A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP1 ATP6AP2 ATP6V1B2 ATP7B ATP8B1 ATPAF1 ATPAF2 ATRX AUH B2M B4GALT1 BAAT BAP1 BMP2 BMP6 BOLA3 BRCA1 BRCA2 BSCL2 BTD BTNL2 C1QBP C2orf69 CA2 CALR CASP10 CASR CAV1 CAVIN1 CBL CBS CC2D2A CCDC115 CCDC47 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD55 CD70 CD81 CD96 CDAN1 CDIN1 CDKN1C CDKN2A CFTR CHD7 CIDEC CLCN7 CLDN1 CNTNAP2 COA8 COG1 COG4 COG5 COG6 COG7 COX14 COX4I2 COX5A CPOX CPT1A CPT2 CR2 CTC1 CTLA4 CTNNB1 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 DAXX DCDC2 DCLRE1C DDRGK1 DEF6 DGUOK DHCR7 DHDDS DHFR DIS3L2 DKC1 DLD DLK1 DNAJC21 DNASE1L3 DNASE2 DOCK2 DPAGT1 DPM1 DPM2 DYNC2LI1 DZIP1L EARS2 EFL1 EIF2AK3 EPB42 ERBB3 ERCC1 ERCC4 ERCC6 ERCC8 ETFA ETFB ETFDH EWSR1 EXTL3 F5 FAH FAM111B FARSA FAS FASLG FBN1 FBP1 FCGR2A FDX2 FERMT3 FGA FGFR2 FLNC FOCAD FOS FOXRED1 FUCA1 G6PC1 G6PC3 GAA GALE GALK1 GALM GALNS GALT GATA2 GBA1 GBE1 GCDH GCLC GFM1 GIMAP5 GLB1 GLIS3 GLRX5 GNB2 GNE GNMT GNPTAB GNS GPC3 GPC4 GPD1 GPIHBP1 GPR35 GUCY2D GUSB HADHA HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEXB HFE HGSNAT HJV HLA-DRB1 HMGCL HMGCS2 HMOX1 HNF1A HNF4A HPGD HSD17B4 HSD3B7 HYMAI HYOU1 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IGF2 IKBKG IL18BP IL1RN IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 INSR IRF4 IRF8 ITCH ITK JAK1 JAK2 JAK3 JAM2 JAM3 KCNH1 KCNJ11 KCNMA1 KCNN3 KCNN4 KCNQ1 KCNQ1OT1 KIF12 KIF20A KIF3B KIT KLF1 KPTN KRAS LACC1 LAMA5 LARS1 LBR LCAT LIG4 LIPA LIPE LMBRD1 LMNA LPIN2 LPL LRP5 LSM11 LTBP3 LYRM4 LYST LYZ LZTR1 MADD MAGT1 MAN2B1 MAPK8IP3 MARS1 MCM4 MECOM MED12 MEFV MEG3 MET MFN2 MICU1 MIF MMAA MMAB MMUT MOGS MPC1 MPI MPL MPV17 MRAS MRPL3 MRPS28 MRPS7 MST1 MT-ATP6 MT-ATP8 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTTP MTX2 MVK MYBPC3 MYD88 MYL2 MYO5B MYORG MYPN NAE1 NAGA NAGLU NAGS NCF1 NCF2 NCF4 NCKAP1L NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEU1 NFKBIA NGLY1 NHLRC2 NHP2 NLRP1 NLRP3 NOP10 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS NSD2 NUBPL OCLN OSTM1 OTUD5 PALB2 PALLD PARN PC PCCA PCCB PCK1 PDGFB PDGFRA PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM1 PHKA2 PHKB PHKG2 PIEZO1 PIGA PIGL PIGM PIGS PIK3C2A PIK3CD PIK3CG PIK3R1 PKD2 PKHD1 PKLR PLAGL1 PLEKHM1 PMM2 PNPLA2 POLD1 POLG POLG2 PPARG PPP1R21 PRF1 PRKCD PRKCSH PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN11 PTPN2 PTPN22 PTPRC PTRH2 PUS7 PYGL RAB27A RABL3 RAC2 RAF1 RAG1 RAG2 RASA2 RASGRP1 RBCK1 RBM8A REL RFT1 RHAG RHBDF2 RHCE RHD RINT1 RIPK1 RIT1 RMND1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RORC RPGRIP1L RRAS RRAS2 RTEL1 RTL1 RUNX1 SAA1 SAMHD1 SASH3 SBDS SC5D SCARB2 SCN4A SCO1 SCO2 SCYL1 SDHD SEC63 SEMA4D SEMA7A SERPINA1 SF3B1 SGSH SH2D1A SKIC2 SKIC3 SLC17A5 SLC20A2 SLC22A5 SLC25A1 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC29A3 SLC2A1 SLC2A2 SLC30A10 SLC34A2 SLC35C1 SLC37A4 SLC38A3 SLC39A4 SLC40A1 SLC4A1 SLC7A7 SLCO2A1 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOS1 SOS2 SOX10 SP110 SPRED2 SPTA1 SPTB SRP54 SRSF2 STAT1 STAT3 STAT4 STEAP3 STX11 STXBP2 SUCLG1 SUMF1 SURF1 TALDO1 TCF4 TCIRG1 TCN2 TERC TERT TET2 TFE3 TGFB1 TIMMDC1 TINF2 TKFC TKT TLR8 TMEM126B TMEM165 TMEM67 TMEM70 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNNI3 TNNT2 TOGARAM1 TOM1 TP53 TRAC TRAPPC11 TREX1 TRIM37 TRMU TRPV6 TSFM TTC26 TUFM TULP3 TYMS UBR1 UCP2 UNC13D UQCRB UROS USB1 USP18 VIPAS39 VPS11 VPS13A VPS33A VPS33B VPS45 VPS4A WDR19 WDR35 WRAP53 WT1 XIAP XK XPR1 XRCC4 XYLT1 YARS1 YARS2 ZAP70 ZFYVE19 ZIC3 ZNF699 ZNFX1 HP_HEPATOSPLENOMEGALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOSPLENOMEGALY ABCA1 ABCA12 ADA2 ADAR ALG9 ALMS1 ANKRD55 AP3B1 ASAH1 ASXL1 BRCA1 BRCA2 CA2 CALR CAV1 CBL CCDC115 CD247 CD27 CD3D CD3E CD70 CDKN2A CFTR CLCN7 COG1 COG4 COG5 COG7 CTSA CTSK CYBC1 CYP7B1 DCDC2 DDRGK1 DLK1 DNASE2 DPM1 DZIP1L FARSA FCGR2A FERMT3 FGFR2 G6PC3 GALK1 GBA1 GBE1 GCLC GLB1 GLRX5 GNB2 GNE GNPTAB GPR35 HAVCR2 HBB HEXB IARS1 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IKBKG IL2RA IL2RB IL6ST IL7R ITCH JAK1 JAK2 JAK3 KIF3B KLF1 KPTN KRAS LBR LIPA LPIN2 LPL LSM11 LYST MAN2B1 MECOM MED12 MEG3 MOGS MPL MST1 MVK NCKAP1L NEU1 NHLRC2 NLRP3 NPHP3 OSTM1 PALB2 PALLD PEX13 PEX2 PIK3CG PKHD1 PLEKHM1 PRF1 PRKCD PSTPIP1 PTPN2 PTPN22 PTPRC RAB27A RABL3 RAC2 RAG1 RAG2 RASGRP1 RBM8A RHAG RHCE RHD RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RTL1 RUNX1 SAMHD1 SC5D SCYL1 SEMA4D SLC25A13 SLC29A3 SLC2A1 SLC4A1 SLC7A7 SMAD4 SNX14 SOX10 SP110 SRSF2 STAT1 STAT3 STAT4 STEAP3 STXBP2 TALDO1 TCF4 TCIRG1 TET2 TFE3 TGFB1 TMEM67 TNFSF11 TOM1 TP53 TREX1 TULP3 UNC13D VPS11 VPS33A ZAP70 ZNF699 ZNFX1 HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA AKT1 APC AURKA AXIN2 BAX BRAF BUB1 BUB1B CCND1 CHEK2 CTNNB1 DCC DLC1 EP300 EPCAM FGFR3 FLCN MCC MLH3 MSH6 NRAS PDGFRL PIK3CA PLA2G2A PMS2 POLD1 PTPN12 PTPRJ RAD54B SRC TGFBR2 TLR2 TP53 HP_HERNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERNIA AARS1 ABCC8 ABCC9 ABCD4 ABL1 ACTA2 ACTG2 ADAMTS2 ADAMTSL2 ADAT3 ADNP AEBP1 AGA AGPAT2 ALDH18A1 ALDH1A2 ALG9 AMER1 AMH AMHR2 ANAPC7 ANTXR1 AP1S2 APC2 AR ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARPC4 ARSB ARVCF ARX ATAD1 ATP1A2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATRX AUTS2 B3GAT3 B3GLCT BAZ1B BCL11B BCL7B BCOR BCR BGN BHLHA9 BMP1 BMPER BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BSCL2 BUB1 BUD23 C1R C1S CAMSAP1 CAMTA1 CARS1 CASK CBS CC2D2A CCBE1 CCDC22 CD96 CDC42 CDC42BPB CDCA7 CDH11 CDKL5 CDKN1C CEP120 CHAMP1 CHD3 CHD7 CHRNG CHST14 CHST3 CHUK CLCN4 CLDN19 CLIP2 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COLEC10 COLEC11 COMT COX11 COX7B CPLX1 CREBBP CRKL CSNK2A1 CTBP1 CTCF CTNND2 CUL4B CWC27 DACT1 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DICER1 DIS3L2 DLK1 DLL3 DMXL2 DNAJB4 DNAJC21 DNAJC30 DNMT3A DNMT3B DPF2 DPH1 DPH2 DPP9 DPYSL5 DSE DUOX2 DUOXA2 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EED EFEMP2 EFNB1 EHMT1 EIF4H ELMO2 ELN ELOVL4 EN1 EOGT ERCC2 ERCC3 ERCC4 ERMARD ESS2 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBLN5 FBN1 FBXW11 FGD1 FGFR1 FGFR2 FIBP FKBP14 FKBP6 FLI1 FLNA FLNB FOCAD FOXE3 FOXF1 FRAS1 FREM1 FREM2 FTO FUCA1 FZD2 G6PC3 GAD1 GALNS GATA4 GATA6 GDF1 GDF11 GJA1 GLB1 GLI3 GLIS3 GLRA1 GLRB GMNN GNAO1 GNB2 GNE GNPAT GNPTAB GNS GON7 GORAB GP1BB GPC3 GPC4 GPC6 GPHN GRIN1 GRIN2B GRIP1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB GZF1 H19 H4C3 HCCS HDAC4 HDAC8 HELLS HES7 HESX1 HEY2 HGSNAT HIC1 HIRA HIVEP2 HMGA2 HOXD13 HSPG2 HYLS1 HYMAI IDS IDUA IFT122 IFT140 IFT80 IFT81 IGF2 IKBKG INPP5E IPO8 IRF6 IRX5 ISL1 IYD JMJD1C KCNA1 KCNH1 KCNJ11 KCNJ8 KCNQ1 KCNQ1OT1 KDM3B KDM5B KDM6A KIAA0586 KIF7 KMT2C KMT2D KNSTRN LAGE3 LBR LDHD LETM1 LFNG LHX3 LHX4 LIMK1 LMOD1 LONP1 LOX LRP2 LRPPRC LTBP1 LTBP4 MAD2L2 MAF MAFB MAMLD1 MAN2B1 MAP1B MAP3K7 MAPK1 MAPRE2 MASP1 MAT2A MBTPS1 MBTPS2 MCTP2 MDFIC MECP2 MED12 MED13L MED25 MEG3 MEGF8 MEIS2 MESP2 METTL27 MFAP5 MID1 MKS1 MLXIPL MMP14 MMP2 MN1 MPLKIP MSX1 MTFMT MTHFR MTOR MYH11 MYH3 MYLK MYRF NAA10 NALCN NAT8L NCF1 NDUFA8 NDUFAF5 NDUFB11 NECTIN1 NEDD4L NEK9 NELFA NEU1 NEUROD2 NFIA NFIX NIPBL NKX2-5 NLRP3 NOTCH1 NOTCH2 NOTCH3 NPHP3 NR2F2 NSD1 NSD2 NSDHL NUAK2 NUP107 NUP133 NXN OCLN OCRL ODC1 OFD1 OSGEP P3H1 PACS1 PAFAH1B1 PALB2 PAX8 PBX1 PCNA PHGDH PI4KA PIEZO2 PIGG PIGL PIGN PIGP PIGQ PIGS PIGW PIGY PIK3CA PIK3CD PIK3R1 PLAG1 PLAGL1 PLD1 PLOD1 PLOD2 PNKP POGZ POLR2A POLR3GL PORCN POU1F1 PPM1D PPP1R12A PPP2CA PPP2R1A PPP2R3C PRDM5 PRKG1 PRKG2 PROP1 PRR12 PTCH1 PTDSS1 PUF60 PYCR1 RAB23 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RARB RFC2 RFWD3 RFX7 RIC1 RIN2 RIPK4 RIPPLY2 RLIM RNF113A RNF13 RNF2 ROR2 RPGRIP1L RPL10 RPS26 RPS28 RPS6KA3 RREB1 RSPO2 RTL1 SALL1 SATB2 SCN1B SCN2A SEC24C SEC31A SEMA5A SERPINH1 SET SETBP1 SETD2 SF3B4 SGSH SH2B1 SH3PXD2B SHANK3 SHOC2 SHPK SIK1 SIN3A SKI SKIC2 SKIC3 SLC10A7 SLC25A22 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC32A1 SLC35C1 SLC35D1 SLC37A4 SLC5A5 SLC5A6 SLC6A5 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SNIP1 SOX11 SOX4 SOX6 SPECC1L SRCAP STAG2 STRA6 STX1A SUZ12 TARS1 TASP1 TBL2 TBX1 TBX3 TCF4 TENT5A TFE3 TG TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THRA THSD4 TMCO1 TMEM107 TMEM216 TMEM270 TMEM67 TMEM70 TMEM94 TMTC3 TNRC6B TNXB TOR1A TP53RK TP63 TPO TPRKB TRAF7 TRAIP TRIM8 TRIP11 TRPV6 TRRAP TSHB TSHR TTC26 TTC7A TUBB TWIST2 TXNL4A UBA1 UBE2T UFD1 VANGL2 VPS33A VPS35L VPS37D WASHC5 WDR19 WDR35 WDR4 WDR73 WLS WNT3 WNT4 WNT5A WNT7B WT1 XRCC2 XRCC4 YRDC YWHAE ZBTB24 ZBTB7A ZEB1 ZFP57 ZFPM2 ZIC3 ZNF469 ZNF699 HP_HERPES_SIMPLEX_ENCEPHALITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERPES_SIMPLEX_ENCEPHALITIS HYOU1 IRF3 NCKAP1L SNORA31 STAT1 TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_HETEROCHROMIA_IRIDIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROCHROMIA_IRIDIS ACTB ACTG1 AKT1 CHN1 EDC3 EDN3 EDNRB ELP1 GNAQ HRAS KIT KITLG LMX1B MAFB MC1R MITF OCA2 PAX3 PNPLA6 PTEN SALL4 SNAI2 SOX10 TYR HP_HETEROPHORIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROPHORIA AFF4 GJA5 GJA8 HACE1 HOXB1 KIDINS220 MECR SCN8A TBX1 TRAPPC11 HP_HETEROTAXY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTAXY ACTG2 CCDC32 CCDC39 CFAP52 CFAP53 CFC1 CIROP CPLX1 CTBP1 DNAAF5 DNAH9 FANCB FOXJ1 GDF1 KDM3B LETM1 MMP21 NEK10 NELFA NODAL NSD2 ODAD4 PIGG PKD1L1 SMAD2 ZIC3 HP_HETEROTROPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTROPIA AARS1 ABCC9 ACADSB ADARB1 ADAT3 ADD3 ADGRG1 ADNP AGRN AGTPBP1 AHCY AHDC1 AIMP1 ALDH3A2 ALG2 ALG9 AMMECR1 ANTXR1 AP1G1 APC ARHGAP31 ARPC4 ATAD3A ATIC ATOH7 ATP1A2 ATP1A3 ATRX B3GAT3 BCOR BCORL1 BLOC1S3 CACNA1A CACNA1F CAMK2B CARS1 CDC42 CDC42BPB CHAT CHMP1A CHST3 CLCN3 CLCN6 CLP1 COG8 COL11A1 COL12A1 COL13A1 COL25A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COL8A2 CPLANE1 CRB1 CRIPT CYB5A CYB5R3 DDOST DLK1 DNMBP DPAGT1 DPM1 DPP6 DYRK1A EBP EFNB1 EMC1 ERCC2 ERCC3 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FAM149B1 FBN1 FBXO28 FBXW11 FGF10 FGFR2 FGFR3 FRMD5 FZD4 GALC GALNT2 GBA1 GLRB GNA14 GNB1 GNB2 GRHL2 GRID2 GRM1 GTF2E2 GTF2H5 H4C11 H4C5 HADHA HERC2 HMGB3 HNRNPH2 HOXB1 HPDL HPS3 HUWE1 IARS2 IRF2BPL KAT6A KAT8 KCNMA1 KDM1A KDM6B KIAA0753 KIDINS220 KIF21A KIF7 LAGE3 LCA5 LGI4 LMBRD2 LMNB1 LRAT LRMDA LRP5 LRPPRC LYRM7 MADD MAGEL2 MBD5 MC1R MED12 MEG3 MKRN3 MPDZ MPLKIP MRPS34 MYF5 MYO9A MYOD1 NALCN NCDN NEUROD2 NEXMIF NGLY1 NMNAT1 NONO NPAP1 NR2F1 NSD1 NTNG2 OCA2 OFD1 OVOL2 P4HTM PAX6 PCDHGC4 PDE4D PDE6D PEX5 PGAP2 PGAP3 PGM2L1 PHGDH PHOX2A PIDD1 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3R1 PMM2 POGZ POLA1 POLG POLRMT POU4F1 PPP1R21 PPP2R5D PRKAR1B PRPS1 PRR12 PTEN PTRH2 PUF60 PURA PWAR1 PWRN1 PYCR2 PYROXD1 RERE RNASEH1 RNF113A RNF2 ROBO3 RORA RP1L1 RPE65 RPL10 RRAS2 RRM2B RTL1 SALL2 SCO2 SEC23A SIAH1 SLC12A6 SLC17A5 SLC18A3 SLC1A3 SLC25A1 SLC25A46 SLC35A2 SLC38A8 SLC5A7 SLC6A8 SMAD3 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOBP SON SOST SOX5 SPATA7 SREBF1 SYT1 SYT2 TAF2 TARS1 TBC1D23 TBC1D2B TBX1 TCTN3 TENM3 TGFBR1 TGFBR2 THOC2 TMEM216 TMEM231 TMEM67 TOPORS TRIT1 TRPM3 TUBA1A TUBB2B TUBB3 TYR UBE3A UFC1 UFSP2 UNC80 USP7 VAMP1 VRK1 VSX1 WARS2 WDR11 WDR45 WT1 ZC4H2 ZEB1 ZEB2 ZSWIM6 HP_HIATUS_HERNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIATUS_HERNIA ADAMTS2 ADAMTSL2 ALDH18A1 ATAD1 ATP7A C1R CAMTA1 CHST14 COL1A1 COL5A1 COL5A2 EXT2 GLIS3 GLRA1 GLRB GON7 GPHN LAGE3 MED12 MYH11 NIPBL NUP107 NUP133 OSGEP PORCN SLC2A10 SLC6A5 TCF4 TGFB3 TNXB TP53RK TPRKB WDR4 WDR73 YRDC ZBTB7A ZNF699 HP_HIGHLY_ARCHED_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ARCHED_EYEBROW ACTB ACTG1 ADAT3 AFF4 AHI1 ANKRD11 ARL13B ARL3 ARMC9 ASPM ASXL2 ASXL3 AUTS2 B9D1 B9D2 BCOR BCR BICRA BRD4 C12orf57 CAMK2G CBL CBY1 CC2D2A CDC42 CDC42BPB CDH11 CDK13 CEP104 CEP120 CEP290 CEP41 CHD7 CHD8 CHST3 CHSY1 CLCN6 CLP1 COLEC10 COLEC11 COX7B CPLANE1 CPLX1 CREBBP CRKL CSNK2A1 CSPP1 CTBP1 CTCF CTU2 CYFIP2 DDX6 ECEL1 EHMT1 EP300 ERMARD ESCO2 FAM149B1 FAM20C FAR1 FBXO31 FGFRL1 FOXG1 FOXL2 FRMD4A GAD1 GJA5 GJA8 H4C11 H4C9 HDAC4 HDAC8 HNRNPH1 HSPA9 HYLS1 IFT74 IGF1R INPP5E KAT6A KATNIP KCNH1 KCNK9 KDM1A KDM6A KIAA0586 KIAA0753 KIF7 KIFBP KMT2A KMT2D LETM1 LMX1B LRPPRC LTBP1 MADD MAN1B1 MAN2B1 MAN2C1 MAPK1 MASP1 MBD5 MED27 MEGF8 MEIS2 MESD MKS1 MN1 NCAPG2 NECTIN1 NELFA NFIX NIPBL NPHP1 NSD2 NUP188 OFD1 OTUD6B PACS1 PDE6D PGAP1 PGAP2 PGAP3 PIBF1 PIGG PIGL PIGO PIGS PIGV PIGW PIGY PPP1CB PPP2R3C PRR12 PTPRF PUF60 PUS7 RAC1 RAD21 RHOBTB2 RNF2 ROBO1 RPGRIP1L RPS23 RPS6KA3 RUSC2 SEMA3E SETD2 SETD5 SHMT2 SLC45A1 SMARCA2 SMC1A SMC3 SMPD4 SOX11 SPATA5 SPECC1L SPEN SPOP STAG2 STRADA STXBP1 SUFU SUPT16H SZT2 TAF6 TASP1 TBCK TBX4 TCTN1 TCTN2 TCTN3 TFAP2B TGDS TMCO1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TMEM94 TOGARAM1 TOPORS TRIO TRRAP TTC5 TWIST2 UGP2 VPS35L WASHC4 ZBTB18 ZEB2 ZNF423 ZNF462 ZSWIM6 HP_HIGHLY_ELEVATED_CREATINE_KINASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ELEVATED_CREATINE_KINASE ANO5 CRPPA DPM3 FDX2 LAMA2 LPIN1 MT-CO1 MT-CO3 OBSCN POPDC3 PYGM HP_HIGH_ANTERIOR_HAIRLINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_ANTERIOR_HAIRLINE ADARB1 ADNP ALX1 ALX3 ANKRD17 ATP6V1B2 BICRA CCNK CDH1 CLCN3 CPLX1 CTBP1 CWC27 DEAF1 DHX30 DLX4 DPH2 EFNB1 FAT4 FGD1 FLNA GDF11 GMPPA GNB2 H1-4 H4C5 HEATR3 HS2ST1 HYOU1 IFIH1 JARID2 KCNH1 KDM1A LETM1 LMX1B LRP2 MED12 MEIS2 MID1 NELFA NEPRO NOVA2 NSD1 NSD2 PEX1 PEX6 PIGG PIGK PPP1CB PRKD1 RALGAPA1 RERE SATB1 SETD2 SIN3A SLC35C1 SLC9A7 SMO SOS1 SPECC1L SPEN STAG2 STT3A SYT1 TBL1XR1 THOC6 TWIST1 UGP2 WNT4 ZC4H2 HP_HIGH_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FOREHEAD AARS1 ACTB ACTL6B ADAT3 AGO1 AKT3 ALDH6A1 ALG11 ANKRD11 ANTXR1 AP1S1 AP1S2 AP3B2 APC ARID2 ARV1 ARX ATAD3A ATN1 ATP1A2 ATP1A3 ATP6AP1 ATP6V1A ATP6V1B2 ATP7A BAZ1B BCL7B BCORL1 BMP4 BPNT2 BRAF BUB1 BUB1B BUB3 BUD23 CACNA1A CACNA1B CACNA2D1 CAMK2G CARS1 CBL CCND2 CDC42BPB CDH1 CDH11 CDK19 CDKL5 CELF2 CENPJ CEP57 CLIP2 CLTC CNKSR2 COX7B CPLX1 CPT2 CRIPT CTBP1 CTCF CTNND1 CUL4B CYFIP2 DALRD3 DHDDS DHX30 DIS3L2 DNAJC30 DNM1 DPH5 DVL1 DVL3 EBF3 EEF1A2 EIF4H ELN EPB41L1 ERF ETFA ETFB ETFDH EXOSC1 EXT2 FBN1 FBXO11 FBXO28 FGF12 FGF13 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FLI1 FOCAD FRA10AC1 FRMPD4 FUT8 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALNT2 GATA4 GH1 GHR GJA1 GLI3 GMNN GNB2 GNPAT GNPTAB GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HBA1 HBA2 HCN1 HIC1 HIVEP2 HNRNPH1 HNRNPU HSD17B4 HUWE1 IFT122 IFT140 IFT52 IGBP1 IL11RA INPPL1 KANSL1 KCNA2 KCNB1 KCNH1 KMT2A KMT2D KMT5B KNSTRN KRAS LBR LETM1 LIMK1 LMX1B LRP5 LZTR1 MADD MAF MAN2C1 MAP2K1 MAP2K2 MAPK1 MDH1 MED12 MED12L MED25 MEF2C METTL27 MLXIPL MMACHC MRAS MTM1 MTOR MTX2 MYOD1 NAA10 NCF1 NECAP1 NELFA NEU1 NFIB NFIX NPHP3 NRAS NSD1 NSD2 NSRP1 NTRK2 NUS1 NXN ODC1 ORAI1 PACS2 PAFAH1B1 PARS2 PDCD6IP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHIP PIGG PIGT PIGU PIK3CA PIK3CD PIK3R2 POC1A POLR2A PPP1CB PPP1R21 PPP3CA PRDX1 PTPN11 PURA RAF1 RASA2 RBM8A RFC2 RIN2 RIT1 RNF113A RRAS RRAS2 SATB1 SATB2 SCN1A SCN3A SCN8A SCNM1 SCUBE3 SERPINH1 SETBP1 SETD1A SETD2 SETD5 SH3PXD2B SHPK SIN3A SIX2 SKI SLC13A5 SLC1A2 SLC1A3 SLC38A3 SMAD3 SOS1 SOS2 SOX6 SOX9 SPRED2 SPTBN1 STIM1 STRADA STX1A SUPT16H SYNGAP1 SYNJ1 SYT1 SZT2 TAFAZZIN TAOK1 TBCE TBL1XR1 TBL2 TBX1 TCF20 TET3 THOC2 THOC6 TMEM237 TMEM270 TP63 TRAK1 TRIO TRIP13 TRPV4 TRPV6 TWIST1 UBA2 UBA5 UBE2A UNC80 UPF3B VAC14 VPS37D WASHC5 WDR35 WDR37 WDR4 WLS WWOX XRCC4 YWHAE YWHAG ZC4H2 ZDHHC9 ZIC1 ZIC2 HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT AP1S2 DSPP GJB3 LMX1A MYH9 POLRMT RPGR SMPX HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT ASAH1 CEP250 FGF3 FKBP14 LMNA ZMPSTE24 HP_HIGH_HYPERMETROPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_HYPERMETROPIA ALDH1A3 ARSG ARV1 BAZ1B BCL7B BEST1 BLOC1S3 BUD23 CASZ1 CDH23 CEP78 CIB2 CLIP2 CLRN1 CNNM4 CRB1 CSTA DNAJC30 EIF4H ELN ESPN FGF3 FKBP6 GABRD GJA1 GTF2I GTF2IRD1 GTF2IRD2 HARS1 HSPG2 IFT122 IFT43 IFT52 KCNAB2 LCA5 LIMK1 LRMDA LUZP1 MED25 METTL27 MFRP MLXIPL MMP23B MT-TS2 MYO7A NCF1 NMNAT1 OGT OTX2 PCDH15 PDPN PIK3R1 PRDM16 PRKCZ PRSS56 RAI1 RAX RERE RFC2 RMRP RPGRIP1 SIX6 SKI SLC6A6 SMAD4 SOX2 SPEN STX1A TAOK1 TBL2 TGM5 TMEM270 TMEM98 TUBB4B UBE4B USH1C USH1G VPS37D WDR19 WDR35 WDR45 ZMYM2 HP_HIGH_MYOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_MYOPIA ADAMTS10 ADAMTS17 ADAMTSL4 ARR3 ASPH ASXL1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BAP1 BLOC1S3 CCNQ CNGB3 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 COX7B CPSF1 CRIPT CRYAB CYP1B1 CYP4V2 DAG1 DOHH DPH5 EFEMP1 EFL1 ELOVL4 ERBB3 EXOSC2 FBN1 FGFR3 GLRA2 GPR179 GZF1 HCCS HERC1 HS6ST2 IPO8 IRX5 KAT5 LAMB2 LOXL3 LRIT3 LRP2 LRPAP1 LTBP2 MAF MFSD8 MYOC NDP NDUFB11 NFIX NMNAT1 NYX P3H2 P4HA2 PAK2 PAX2 PDE6H POC1B POLR3B POMGNT1 PRDM5 PRIMPOL RAB28 RECQL4 RIN2 RP2 RPGR RPL10 SCO2 SLC39A5 SLITRK6 SMS TBC1D24 TGFBI TTC8 TTLL5 TTR VPS50 ZNF408 ZNF469 ZNF644 HP_HIGH_NARROW_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_NARROW_PALATE AARS1 ABCC6 ACTA1 ACTA2 ADNP AFF4 AMER1 ANTXR1 APC ARID2 ARL6 ASXL3 ATN1 ATP7A BBS1 BCOR BCR BMPR1A BRAF CARS1 CCDC22 CCDC28B CDC45 CDC6 CDK10 CDT1 CNTN1 COL11A1 COL12A1 COL3A1 COPB1 CPT2 CREBBP CRKL DDX59 DIS3L2 DPM1 DPYSL5 DVL1 DVL3 ELN EP300 ERCC2 ERCC3 ERMARD FBN1 FGFR1 FGFR3 FIG4 FOXE3 FOXP2 FZD2 GIPC1 GMNN GNE GPC3 GPC4 GRB10 GTF2E2 GTF2H5 H4C5 HECW2 HEY2 HNRNPK IFT122 INTU IPO8 KCNK9 KIF26A KLHL41 LOX LRP12 LRP4 MAP2K1 MAP3K7 MAPK1 MARS1 MAT2A MCM3AP MED12L MED25 MEGF8 MFAP5 MPLKIP MUSK MYH11 MYLK MYMX NAA10 NDUFAF6 NEB NIPBL NONO NOTCH2NLC NOTCH3 NSD1 ORC1 ORC4 ORC6 PCDHGC4 PCLO PEX1 PEX5 PIEZO2 PIGT PLOD1 POR PRKG1 PTDSS1 PTEN PTPN11 RECQL4 RET RILPL1 RNF113A RUNX2 SCARF2 SIN3A SKI SLC25A12 SLC25A24 SLC6A17 SMAD2 SMAD3 SMAD4 SMARCA2 SMG9 SMS SPEN SPRED1 SPRED2 SPTBN1 TAF1 TAOK1 TARS1 TBCK TBX1 TCTN3 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TPM3 UBE3B UFC1 VAC14 VPS13B VPS35L WASHC5 WNT5A WNT7A HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE CACNA1S ENG EPHB4 HBB RASA1 RYR1 HP_HIGH_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PALATE AARS1 AASS ABCC6 ABL1 ACTA1 ACTA2 ACTN2 ADA2 ADAM22 ADARB1 ADAT3 ADNP AEBP1 AFF4 AGRN AIFM1 AK9 AKT1 ALDH6A1 ALG14 ALG2 ALG3 AMER1 ANAPC7 ANK1 ANKRD11 ANO1 ANOS1 ANTXR1 AP1G1 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC ARCN1 ARHGEF2 ARID1A ARID1B ARID2 ARL6 ARX ASH1L ASPH ASXL3 ATAD1 ATG7 ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATP9A ATR ATRX B3GALT6 BAP1 BBS1 BCOR BCR BGN BICRA BIN1 BLNK BLTP1 BMP2 BMP4 BMPR1A BRAF BRAT1 BRCA1 BRCA2 BRD4 BRIP1 CA2 CACNA1S CACNA2D1 CAMSAP1 CAMTA1 CARS1 CASK CBL CBS CCDC22 CCDC28B CCDC47 CD79A CD79B CD96 CDC45 CDC6 CDH11 CDH2 CDK10 CDK19 CDON CDT1 CEP152 CFL2 CHAMP1 CHAT CHD3 CHKA CHRNA1 CHRNB1 CHRND CHRNE CHRNG CHST14 CHST3 CLCF1 CLCN3 CLP1 CLTC CNOT1 CNTN1 CNTNAP1 COG1 COG5 COL11A1 COL12A1 COL13A1 COL1A2 COL2A1 COL3A1 COL5A1 COL6A1 COL6A2 COL6A3 COLEC11 COLQ COPB1 COX14 COX6A2 CPLANE1 CPSF3 CPT2 CREBBP CRKL CRLF1 CSNK2A1 CTBP1 CTNNB1 CTNND2 CTSK CTU2 CUL4B DBH DCHS1 DDHD2 DDR2 DDX11 DDX3X DDX59 DDX6 DEAF1 DHPS DHX30 DIS3L2 DISP1 DLG3 DLK1 DLL1 DMXL2 DOCK3 DOK7 DPAGT1 DPH5 DPM1 DPM2 DPYD DPYSL5 DSE DST DVL1 DVL3 EBP ECM1 EDEM3 EEF1A2 EFEMP2 EFL1 EFNB1 EIF2AK3 EIF4A3 ELN ENPP1 EP300 EPG5 ERCC2 ERCC3 ERCC4 ERLIN2 ERMARD ESCO2 EXOC7 EXOSC9 EYA1 FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAT4 FBN1 FBN2 FBXL3 FBXO28 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FLCN FLNA FLNB FN1 FOXE3 FOXH1 FOXL2 FOXP2 FRA10AC1 FRAS1 FREM2 FRMPD4 FUT8 FZD2 G6PC3 GABRA3 GAS1 GATA1 GATA4 GATAD2B GBA1 GEMIN4 GFPT1 GIPC1 GJA1 GJA5 GJA8 GLE1 GLI2 GMNN GMPPB GNB1 GNB2 GNE GNPAT GPC3 GPC4 GPT2 GRB10 GRIP1 GSC GTF2E2 GTF2H5 H19 H4C5 HACD1 HBA1 HBA2 HDAC8 HEATR3 HECW2 HERC1 HEY2 HIVEP2 HNRNPH1 HNRNPH2 HNRNPK HNRNPU HOXB1 HPDL HPGD HRAS HSD17B4 HSPA9 HSPG2 HUWE1 HYMAI HYOU1 IBA57 IER3IP1 IFT122 IFT140 IGBP1 IGF1R IGF2 IGHM IGLL1 IL11RA IL6ST INSR INTU IPO8 IRX5 ITGA7 KANSL1 KBTBD13 KCNH1 KCNJ2 KCNJ5 KCNJ6 KCNK9 KCNMA1 KCNN3 KDM5C KDM6A KIAA0753 KIF26A KIF7 KLHL41 KLHL7 KLLN KMT2A KMT2B KMT2D KPTN KRAS L1CAM LAGE3 LAMB2 LETM1 LGI4 LIG4 LMBRD1 LMNA LMOD3 LOX LRP12 LRP4 LRRC8A LTBP1 LTBP2 LZTR1 MAD2L2 MADD MAMLD1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPK8IP3 MAPKAPK5 MARS1 MAT2A MCM3AP MECP2 MED12 MED12L MED13L MED25 MEG3 MEGF10 MEGF8 MESD MFAP5 MID1 MINPP1 MKKS MN1 MOGS MPLKIP MRAS MRPL12 MSTO1 MT-TE MT-TN MT-TS1 MTM1 MTX2 MUSK MYBPC1 MYCN MYH11 MYH2 MYH3 MYH7 MYL1 MYL11 MYL2 MYLK MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NCDN NDUFA8 NDUFAF6 NEB NEFL NEK1 NEK9 NF1 NFIX NIPBL NODAL NONO NOTCH2 NOTCH2NLC NOTCH3 NR2F1 NRAS NRCAM NSD1 NSDHL NSRP1 NSUN2 NUP107 NUP188 NUP88 OBSL1 OCLN ODC1 OFD1 OGDHL ORC1 ORC4 ORC6 OSGEP OTUD6B PAFAH1B1 PAH PAK3 PALB2 PAX1 PAX7 PCDHGC4 PCGF2 PCLO PDE6D PDHX PDZD8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PGM2L1 PGM3 PHIP PIEZO2 PIGA PIGB PIGH PIGL PIGN PIGO PIGT PIGU PIGV PIGW PIGY PIK3CA PIK3R1 PLAA PLAGL1 PLCH1 PLOD1 PLXND1 PMM2 POGZ POLR1B POLR1C POLR1D POLR2A POLRMT POR PPP1CB PPP1R21 PPP2CA PPP2R5D PQBP1 PRKG1 PRMT7 PRPS1 PSAT1 PTCH1 PTDSS1 PTEN PTPN11 PTPN14 PUM1 PURA PUS1 PUS7 PYCR1 PYCR2 PYROXD1 QARS1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAPSN RASA2 RBM10 RECQL4 REEP1 RERE RET REV3L RFWD3 RFX7 RILPL1 RIN2 RIT1 RNASEH1 RNF113A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RRM2B RTL1 RUNX2 RUSC2 RYR1 RYR3 SATB2 SC5D SCARF2 SCN4A SCNM1 SCO2 SDHB SDHC SDHD SEC23A SEC23B SEC24D SEC31A SELENON SEMA5A SET SETBP1 SH3PXD2B SHANK3 SHH SHOC2 SHOX SIAH1 SIK3 SIN3A SIX1 SIX3 SKI SLC10A7 SLC12A6 SLC17A5 SLC18A3 SLC25A1 SLC25A12 SLC25A24 SLC26A2 SLC2A10 SLC35A2 SLC39A13 SLC39A7 SLC5A7 SLC6A17 SLF2 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMARCD1 SMC1A SMC3 SMC5 SMCHD1 SMG9 SMOC1 SMS SNAP25 SNIP1 SNRPB SNRPN SNX14 SON SOS1 SOS2 SOX11 SOX6 SOX9 SP7 SPATA5L1 SPEG SPEN SPI1 SPOP SPRED1 SPRED2 SPTBN1 SPTBN4 SRY STAC3 STAG1 STAG2 STAT3 STIL SURF1 SYNGAP1 SYT2 TAB2 TAF1 TAF6 TAOK1 TARS1 TASP1 TBC1D20 TBC1D24 TBCK TBX1 TBX4 TCF3 TCOF1 TCTN3 TDGF1 TET3 TFAP2A TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC2 THSD4 TIMM50 TLK2 TMCO1 TMEM216 TNNI2 TNNT1 TNNT3 TOE1 TOGARAM1 TOPORS TPM2 TPM3 TRIO TRIP12 TRIP4 TRMU TRPM3 TRPS1 TSPEAR TSR2 TTC5 TTN TUBB TUBB3 TWIST1 TWIST2 TWNK UBA1 UBE2T UBE3B UFC1 UPF3B USF3 USP9X VAC14 VAMP1 VPS13B VPS35L VPS51 WARS2 WASHC5 WDR11 WDR35 WDR4 WDR73 WLS WNT5A WNT7A XRCC2 YARS1 YARS2 YWHAE YY1 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZIC2 ZMPSTE24 ZMYM2 ZNF292 ZNF341 ZNF668 ZNF699 HP_HIGH_PITCHED_CRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_CRY ABAT ALPL ATP1A3 ATP5F1A FIG4 MECP2 PNPO HP_HIGH_PITCHED_VOICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_VOICE ADAMTSL2 AR ARID1B BLM BSCL2 CHRNB1 CTNND2 ERCC4 FAM111A FMR1 GHR GRB10 HSPG2 IGF1R ITPA LMNA MDM2 MED12 MFN2 MORC2 MTX2 MYH7 NBAS ORC4 P4HB PCNT POC1A POLD1 PPP1R15B RBBP8 RIN2 SEC24D SELENON SEMA5A SERPINH1 SMARCAL1 SRCAP STAT5B SYT2 TRIM37 TRMT10A TTN WRN XRCC4 ZMPSTE24 HP_HIGH_SERUM_CALCITRIOL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_SERUM_CALCITRIOL CLCN5 GALNT3 KL SLC34A1 SLC34A3 VDR HP_HIPPOCAMPAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIPPOCAMPAL_ATROPHY ABCA7 BICRA CAMTA1 CPA6 GRM7 NEK1 RNU4ATAC SLITRK2 HP_HIP_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_CONTRACTURE ACTA1 APC2 BICD2 BIN1 COL25A1 COL2A1 ERCC8 ERGIC1 ERLIN2 F8 FBN2 FKBP10 GARS1 GNB2 GNPTAB HACD1 HS2ST1 HSPG2 ITGA7 KAT6B LGI4 LMNA MAP3K20 MAP3K7 MMP2 MUSK MYH3 MYL1 MYL11 MYL2 NALCN NFATC2 NSD1 P4HTM PI4KA PIGA PIGY PNPT1 PTH1R RMRP RNU4ATAC RYR1 SCN4A SCYL2 SELENON SETD2 SLC10A7 SLC26A2 SLC6A9 SPEG TELO2 TNNT1 TPM2 TPM3 TRPV4 TTN UBA1 UNC80 ZBTB20 ZC4H2 HP_HIP_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DISLOCATION AARS1 ABCC9 ACTA1 ADAMTS2 ADAMTSL2 AEBP1 AFF3 AGRN AKT1 ALDH18A1 ALG9 APC ARNT2 ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GALT6 B3GAT3 BICD2 BRCA1 BRCA2 BRD4 BRIP1 C12orf57 CCDC47 CCDC8 CD96 CDON CEP85L CFL2 CHAT CHRM3 CHRNG CHST3 CLCN3 CLTCL1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COX8A CPLX1 CTBP1 CUL7 DHCR7 DHODH DISP1 DLL1 DNAJC21 DPYSL5 DSTYK DVL1 DVL3 EBP ECEL1 EFEMP2 EIF2AK3 EIF4A3 ELN ERCC1 ERCC4 ERGIC1 EXOC6B EXOSC3 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN1 FBLN5 FGF8 FGFR1 FGFRL1 FHL1 FIG4 FKRP FLI1 FLNA FLNB FOXH1 FUT8 FZD2 GAS1 GDF5 GEMIN4 GJA1 GLI2 GLI3 GLRA1 GLRB GMPPB GNPTAB GORAB GPC3 GPC4 GPHN GSC HACD1 HACE1 HDAC4 HDAC8 HK1 HNRNPH1 HOXA11 HPRT1 HSPG2 IARS2 IFIH1 IL6ST INPP5K IPO8 ITGA7 KANSL1 KAT6B KDM6A KIF22 KLHL41 KMT2D LARGE1 LETM1 LMNA LMOD3 LONP1 LRP4 LTBP1 LYSET MACF1 MAD2L2 MAP3K20 MAP3K7 MASP1 MBTPS2 MCTP2 MKKS MYH3 MYH8 MYL2 MYO9A NAA10 NEB NFIX NGLY1 NIPBL NKX3-2 NODAL NSD2 NSDHL OBSL1 OCRL OSGEP PAFAH1B1 PALB2 PIEZO2 PIGL PLCH1 PLOD1 POLR3B POMT1 POMT2 PORCN PPP2R5D PTCH1 PTEN PTRH2 PUF60 PYCR1 PYCR2 RAD21 RAD51 RAD51C RBM8A RECQL4 RFWD3 RNU4ATAC RUNX2 RYR1 RYR3 SCYL2 SEC31A SELENON SF3B4 SHH SHROOM4 SIL1 SIX1 SIX3 SLC12A2 SLC18A3 SLC25A1 SLC2A10 SLC35A3 SLC5A7 SLC6A5 SLC6A9 SLX4 SMC1A SMC3 SMO SMOC1 SNAP25 SNRPB SOX9 SPARC STAG2 STIL SYT2 TBCD TBX15 TDGF1 TELO2 TFE3 TGIF1 THRA TNNT3 TONSL TOR1A TPM2 TPM3 TRIM8 UBA2 UBE2T UBE3B USP9X VAC14 VAMP1 WNT5A WNT7A XRCC2 XYLT1 YWHAE ZC4H2 ZIC2 ZIC3 ZMPSTE24 ZNF469 HP_HIP_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DYSPLASIA ADAMTS2 ADAMTSL2 ANKRD11 ARSB ARSK ATAD3A ATN1 ATP1A3 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP B3GALT6 BAP1 BICD2 BPNT2 BRD4 CASZ1 CCDC47 CCDC8 CENPE CENPJ CEP152 CNOT3 COG6 COL10A1 COL1A1 COL1A2 COL2A1 COL9A2 COMP CPLX1 CREBBP CTBP1 DDB1 DNA2 DPYSL5 DVL1 DVL3 EP300 EXT1 FARS2 FGFRL1 FZD2 GABRD GDF5 GLB1 GLE1 GLI3 GMNN GNPTAB GNS HDAC8 HEATR3 HERC2 HIVEP2 HNRNPK HNRNPR HOXA11 HSPG2 IDS INPP5K IPO8 IRX5 KANSL1 KCNAB2 KCNK4 KDM3B KDM6A KMT2D LETM1 LGI3 LMNA LUZP1 MAGEL2 MATN3 MBD5 MECOM MED12 MKRN3 MMP13 MMP23B MRPS25 MYH7 NDN NFIX NGLY1 NIN NIPBL NPAP1 NRCAM NSD2 NUP85 OCA2 OGDHL PCNT PDPN PGAP2 PGAP3 PHIP PIEZO2 PIGL PIGO PIGV PIGW PIGY PLK4 POLR3A PPP2R1A PPP2R3C PRDM16 PRDM5 PRIM1 PRKCZ PUF60 PWAR1 PWRN1 RAB11B RAD21 RBBP8 RERE RNF13 SELENON SETBP1 SH3PXD2B SH3TC2 SHPK SIL1 SIM1 SKI SLC26A2 SLC2A10 SLC35A3 SMARCA2 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SPEN SRCAP TAF1 TBX4 TET3 TFE3 THOC2 TRAIP TRAPPC11 TRPM3 TRPS1 TRPV4 TTN UBA2 UBE4B UFSP2 UMPS UNC45A USP7 USP9X VIPAS39 VPS33B WDR19 WDR26 WNT5A ZBTB20 ZNF469 HP_HIP_FLEXOR_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_FLEXOR_WEAKNESS AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 FLNC GNE LRP4 MUSK MYOT RAPSN SCN4A HP_HIP_OSTEOARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_OSTEOARTHRITIS ACAN ANKRD55 CD247 CLCN7 COL2A1 COMP FRZB GDF5 HLA-B IL2RA IL2RB PTPN2 PTPN22 SMAD2 SMAD3 STAT4 TRAPPC2 TRPV4 HP_HIP_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_PAIN BSCL2 COL2A1 HNRNPA1 HNRNPA2B1 HYAL1 LEMD3 LMNA MATN3 TRPV4 VCP ZMPSTE24 HP_HIP_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_SUBLUXATION AFF4 B3GALT6 BICRA DDR2 DHCR7 EIF2AK3 EIF4A3 FAT4 GET4 GNB2 GNPTAB IFIH1 KIF22 LMNB2 NEPRO NFIX OSTM1 PLOD1 SLC35A2 THOC2 TONSL TRAPPC12 ZNF407 HP_HIRSUTISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIRSUTISM ABCA5 ABCC9 ADAMTS2 ADNP AFF4 AGPAT2 AIMP2 AIP AKT1 ALMS1 ARID1A ARID1B ARID2 ARL6 ARMC5 ARSB ARX ASXL1 ASXL3 ATP6V1B2 ATRX BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11B BMP1 BMP15 BRAF BRD4 BSCL2 CACNA1G CAPN15 CASZ1 CAV1 CAVIN1 CCBE1 CCDC28B CDH23 CDK5 CEP19 CEP290 CFAP418 CKAP2L CLN3 CNOT2 CNP COPB1 CPOX CREBBP CTSC CYP11B1 CYP19A1 DLK1 DPF2 ELMO2 EMC10 EP300 ERCC6 FGFR2 FLNA FRMD4A FSHR FUT8 GABRD GJA1 GJB3 GJB4 GLB1 GLI3 GNAS GNB2 GNE GNS GPR101 GUSB H6PD HDAC8 HGSNAT HIVEP2 HNRNPR HSD3B2 HSPG2 IDUA IFT172 IFT27 IFT74 INSR IPO8 IRF6 KCNAB2 KCNH1 KCNJ8 KDM6A KDSR KMT2A KMT2D LMNA LMNB2 LRPPRC LUZP1 LZTFL1 MAB21L1 MAP1B MAP3K1 MAP3K7 MAPK1 MAPRE2 MBD5 MC1R MEG3 MGAT2 MKKS MKS1 MMP14 MMP2 MMP23B MOGS NAGLU NANS NFIX NIPBL NKX6-2 NOTCH2 NPHP1 NR3C1 NRAS OFD1 OTUD5 PAPSS2 PDE11A PDPN PEPD PLAA POLR3A POR PPARG PPP1R21 PRDM16 PRKACA PRKAR1A PRKCZ PRKG2 PRMT7 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAD21 RECQL RERE RIN2 RPL10 RTL1 SCAPER SCLT1 SDCCAG8 SETBP1 SETD2 SGSH SHROOM4 SKI SLC25A12 SLC25A24 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMO SOX11 SOX4 SOX6 SPEN SRCAP SUCLA2 TAF1 TAF6 TASP1 TBC1D20 TBCD TBCK TBX15 TOE1 TP53 TP63 TRIM32 TRIO TTC5 TTC8 TUBB TWIST1 TWIST2 UBE2A UBE4B UFC1 USP48 USP8 VPS33A WAC WASHC4 WDPCP WDR81 WNT4 XYLT1 HP_HISTIOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HISTIOCYTOSIS GPR35 IFNGR1 MST1 SEMA4D SLC29A3 TCF4 HP_HITCHHIKER_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HITCHHIKER_THUMB ALG9 BPNT2 CHSY1 CILK1 CNOT1 FLNB MEGF8 SLC26A2 HP_HOARSE_CRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_CRY ASAH1 DLK1 DUOX2 EZH2 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LTBP4 MEG3 PAX8 PIGN RTL1 TSHB HP_HOARSE_VOICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_VOICE ACAN ACTA1 ADAR AFF2 AGA AIP ARID1B ASAH1 BAZ1B BCL7B BUD23 C1R CDC73 CLIP2 DDRGK1 DEAF1 DLK1 DNAJC30 DUOX2 ECM1 EDA EED EIF4H ELN EZH2 FBN1 FKBP6 FLII FLNA GDAP1 GNE GNPTAB GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HRAS IDS IFIH1 IQSEC2 ITGA7 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA3 LAMB3 LAMC2 LEMD3 LIFR LIMK1 LSM11 LTBP3 LTBP4 MAP3K20 MAPK1 MATR3 MEG3 METTL27 MFN2 MID1 MLXIPL MYH14 MYL2 NCF1 NFE2L2 NLRP1 NSD1 PAX8 PIGN POU1F1 PPP3CA RAI1 RFC2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RTL1 SAMHD1 SDHAF2 SDHC SDHD SELENON SERPING1 SHOC2 SLC19A2 SLC26A2 SMS SPART SPTBN1 STX1A SUZ12 TBC1D2B TBL2 THRA TLK2 TMEM270 TPM2 TPM3 TREX1 TRH TRHR TRPV4 TSHB VPS37D HP_HODGKIN_LYMPHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HODGKIN_LYMPHOMA AAGAB ATM CASP10 CD27 CD70 CDKN2A CHEK2 COL14A1 DEF6 DKC1 FAS FASLG ITK KLHDC8B MAGT1 MDM2 PGM3 POLE PRKCD RASGRP1 RNF43 SOCS1 STAT3 STK4 TCF4 TNFRSF9 TP53 HP_HOFFMANN_SIGN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOFFMANN_SIGN ABCD1 ALDH18A1 BCAT2 CHP1 GALC PI4KA REEP2 UCHL1 HP_HOLOPROSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOLOPROSENCEPHALY B3GALNT2 B9D1 B9D2 BUB1 BUB1B BUB3 C2CD3 CC2D2A CDON CEP290 CEP57 CHD7 CILK1 CNOT1 CRPPA CSPP1 DHCR7 DISP1 DLL1 FGF8 FGFR1 FGFR3 FKRP FKTN FOXA2 FOXH1 GAS1 GLI2 GLI3 GMPPB GPKOW HESX1 HOXA2 L1CAM LARGE1 LHX4 MKS1 MTHFR NODAL OTX2 PLCH1 POMGNT1 POMT1 POMT2 POU1F1 PPP1R12A PROP1 PRRX1 PTCH1 RAD21 RB1 RPGRIP1 RPGRIP1L RTTN SALL1 SEC31A SEMA3E SHH SIX3 SMC1A SOX2 STAG2 SUFU TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIP13 TXNDC15 VANGL2 WDR81 ZIC2 HP_HOMOCYSTINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOMOCYSTINURIA ABCD4 ASPH CBS HCFC1 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR PRDX1 HP_HOODED_EYELID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOODED_EYELID AP1G1 CDC42BPB MYMX PIGQ PRR12 SMC3 SOX6 HP_HORIZONTAL_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_EYEBROW ADAM17 CASZ1 CDK19 CNOT2 COL18A1 DDB1 DEAF1 DNMT3A EBF3 EGFR FOXP2 GABRD GNB2 H4C5 HEATR3 HSPG2 INTS1 KCNAB2 KCNK4 LUZP1 MED13L MMP23B PDPN PRDM16 PRKCZ RALA RALGAPA1 RERE SKI SPEN SYT1 TRAPPC9 UBE4B HP_HORIZONTAL_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_NYSTAGMUS ADAR AIFM1 ALDH18A1 ALG13 ALX4 ANO10 AP3B1 ARHGEF2 ASH1L ATG5 ATP13A2 ATP1A2 BEAN1 BLOC1S3 BRAT1 CACNA1A CACNA1G CHD8 CNGB3 COL18A1 COQ5 COX15 CWF19L1 DAB1 DNM1L DPP6 ERLIN2 EXOSC5 EXOSC9 FA2H FAR1 FGF14 FOXG1 FRMD7 GATA3 GBA1 GCH1 GMPPA GPR143 GRID2 GRIK2 GRM1 GRM6 HARS1 HMX1 HPS3 HPS4 HPS5 IARS2 IDH1 IMPDH2 IQSEC2 ITPR1 KCND3 KCNH1 KCNV2 KIF1C KIF5A LARGE1 LMNB1 LRP5 LYST MAB21L1 MARS2 MRE11 MRPL12 MT-ATP6 NDUFAF2 NDUFS2 NEDD4L NFIX NMNAT1 NR4A2 NSUN2 NUP54 NUP62 OPA1 PAX7 PDGFRB PET100 PEX16 PEX5 PIGL PLP1 POLR3B PRRT2 PSAP RBL2 SACS SCN1A SIX6 SLC18A3 SLC35B2 SNIP1 SOX3 SPTBN2 SPTBN4 STUB1 SUPT16H SURF1 SYT14 TAF2 TBC1D24 THG1L TMEM106B TMEM126A TPP1 TRAPPC6B TTBK2 TTR UBA5 UROC1 XRCC1 ZNF408 HP_HORIZONTAL_PENDULAR_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_PENDULAR_NYSTAGMUS ADAR ARHGEF2 CNGB3 LRP5 MT-ATP6 NUP54 NUP62 TMEM106B HP_HORIZONTAL_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_RIBS ABCD4 CCDC8 CEP120 COL2A1 CUL7 DYNC2H1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 IFT81 INTU LBR NEK1 OBSL1 WDR35 HP_HORSESHOE_KIDNEY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORSESHOE_KIDNEY ADA2 ADAMTS3 AFF3 AFF4 ARID1A ARID1B ARID2 BICRA BMPER CAPN15 CC2D2A CCBE1 CCNQ CD96 CFAP418 CHD7 CHST14 CHUK COLEC10 COLEC11 CWC27 DDB1 DDX59 DKC1 DPF2 DSE DSTYK DYNC2LI1 ESCO2 EXTL3 FANCA FANCC FANCD2 FANCE FANCI FAT4 FGFR2 GATA1 GRB10 GREB1L HEATR3 HMGA2 HNF1B HNRNPH1 HNRNPU HRAS KAT5 KDM6A KRAS LEMD3 MAP3K7 MNX1 MRPS34 MYCN NRAS PAX2 PBX1 POR PORCN PUF60 RARB RBM10 RBM8A RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL4 SC5D SEMA3E SLX4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMOC1 SNRPB SON SOX11 SOX4 SRY SSR4 STAG1 STRA6 TCTN3 THOC6 TRIP13 TSR2 UBA2 UBE2A WNT7B WT1 ZIC3 HP_HYDRANENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDRANENCEPHALY CEP55 FLVCR2 GPKOW NDE1 PHGDH SNRPB TBX15 WDR81 HP_HYDROCELE_TESTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCELE_TESTIS ADAMTS3 AKT1 ANGPT2 APC2 ATAD3A CREBBP DPH2 EDEM3 EP300 EZH2 FLT4 FOCAD GJC2 KMT2D MDFIC MECOM MOGS NAA10 NSD1 PEX11B PIEZO1 PIGL PIGN PIK3CA PTEN SETD1A SETD2 SLC25A10 SOX18 SPECC1L TBX1 THSD1 VEGFC ZEB2 ZMYM2 HP_HYDROCEPHALUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCEPHALUS AHI1 AKT1 AKT3 ALDH7A1 ALG13 AMER1 AP1S2 ARHGAP31 ARL13B ARL3 ARMC9 ARSB ARVCF B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BAP1 BICRA BLTP1 BRAF BRCA1 BRCA2 BRIP1 BUB1B CBY1 CC2D2A CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCDC88C CCL2 CCND2 CCNO CDC40 CDC42BPB CDCA7 CDON CENPF CEP104 CEP120 CEP290 CEP41 CEP83 CFAP221 CFAP298 CFAP300 CFAP43 CFAP74 CHST3 CILK1 CLCN3 CLCN7 CLIC2 COG6 COL18A1 COL4A1 COMT COX7B CPLANE1 CPLX1 CPT2 CRB2 CRPPA CRTAP CSF1R CSPP1 CTBP1 CTNNA2 CTNNB1 CYP26C1 DAG1 DCC DENND5A DHCR24 DHCR7 DISP1 DLL1 DLL4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNMT3B DOCK6 DPH1 DPH2 DPYSL5 DRC1 EBP EML1 EOGT EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESCO2 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKRP FKTN FLNA FLVCR2 FOXH1 FOXJ1 FRAS1 FTO FUZ GALC GAS1 GAS2L2 GAS8 GBA1 GCDH GFAP GLI2 GLI3 GMPPB GNAQ GP1BB GPC3 GPC4 GPSM2 GRIP1 GUSB H4C9 HBA1 HBA2 HCCS HDAC6 HELLS HERC1 HES7 HIRA HNRNPU HRAS HSPG2 HYDIN HYLS1 IARS2 IDS IDUA IFNG IFT172 IFT43 IFT74 INPP5E IRF4 JMJD1C KANSL1 KATNIP KDM4B KDM6A KIAA0586 KIAA0753 KIF1A KIF26A KIF7 KMT2D KRAS L1CAM LAMB1 LARGE1 LETM1 LIG4 LMBR1 LRRC56 MAD2L2 MAF MAN2B1 MAP2K1 MAP2K2 MBTPS2 MC1R MCIDAS MED12 MFN2 MKS1 MMACHC MPDZ MT-CYB MTHFR MTM1 MTRR MUSK MYT1L NADK2 NDUFB11 NEK10 NEU1 NF1 NF2 NFIX NKX3-2 NME5 NME8 NODAL NOTCH1 NOTCH2 NOTCH3 NPHP1 NRAS NRCAM NSD2 NSUN2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OGDH OSTM1 P4HB PAK2 PAK3 PALB2 PDE6D PDGFB PEX19 PIBF1 PIEZO2 PIGU PIGV PIK3CA PIK3R2 PLCH1 PLG POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPIL1 PPP1CB PPP2R1A PPP2R5D PRDX1 PRKAG2 PRKAR1A PTCH1 PTCH2 PTDSS1 PTEN PYCR1 RAC3 RAD51 RAD51C RASA1 RBPJ RECQL4 RFWD3 RNASEH2A RNF125 RNU4ATAC ROBO1 ROGDI RPGR RPGRIP1 RPGRIP1L RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RXYLT1 SALL1 SAMD9 SCN4A SEC24C SEC24D SETD2 SF3B2 SF3B4 SHH SHOC2 SIK3 SIX3 SKI SLC13A5 SLC17A5 SLC25A24 SLC29A3 SLC2A1 SLX4 SMARCB1 SMARCC1 SMARCE1 SMC1A SMO SMOC1 SNX10 SOX2 SOX9 SPAG1 SPEF2 SPTBN1 STAG2 STIL STK36 SUFU SUMF1 TAF2 TAOK1 TBC1D7 TBX1 TBX15 TBXT TCIRG1 TCTN1 TCTN2 TCTN3 TDGF1 TERT TGFBR1 TGFBR2 TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM67 TNFRSF11A TNFSF11 TOE1 TOGARAM1 TP53 TRAF7 TREM2 TRIM71 TRMT1 TRNT1 TRPV4 TRPV6 TSC1 TSC2 TTC12 TTC26 TUBB3 TXNDC15 TYROBP UBE2T UFD1 UNC45A USP7 VAC14 VANGL1 VANGL2 VPS33A VPS35L VSX1 WASHC5 WDR81 WNT3 XRCC2 ZBTB20 ZBTB24 ZIC2 ZIC3 ZMYND10 ZNF423 ZNHIT3 ZPR1 HP_HYDROMETROCOLPOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROMETROCOLPOS BBS12 DYNC2LI1 GLI3 MKKS WT1 HP_HYDROPS_FETALIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROPS_FETALIS ABCC6 ADA2 ADAMTS3 AGGF1 AHCY ALG1 ALG8 ALG9 ALPK3 ASAH1 BSND CALCRL CARS2 CASP10 CCBE1 CDAN1 CHRNG COL11A1 COL1A1 COL1A2 COL2A1 CRLS1 CTSA DYNC2H1 DYNC2I1 DYNC2I2 ENPP1 EPB41 EPHB4 FAS FASLG FAT4 FIG4 FLNB FLT4 FOXC2 FOXF1 GATA1 GATB GATC GBA1 GBE1 GLB1 GRIP1 GUSB GYPC HADHA HBA1 HBA2 HEATR3 HSPG2 IFT80 KIAA0586 KIF20A KLF1 LARS2 LBR MCM10 MDFIC MECOM MGAT2 MMACHC MUSK NDUFB10 NEK1 NEK9 NEU1 NR1H4 NSF PIEZO1 PIGA PKLR PLD1 PMM2 PPP3CA PRKCD PTH1R QRSL1 RASA1 RASGRP1 RHD RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RYR1 SCN4A SCN5A SLC17A5 SLC26A2 SLC35D1 SOX18 SPTA1 SPTB TALDO1 TAPT1 THSD1 TRIM37 TRIP11 TSR2 UROD UROS VAC14 WDR35 WNT7A HP_HYDROURETER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROURETER ACTB ACTG1 ACTG2 AQP2 ARID1B AVPR2 BBS12 BCOR BRCA1 BRCA2 BRIP1 CCNQ CHRM3 DDB1 DYNC2LI1 EDNRA ERCC4 ERCC6 ERCC8 EVC EVC2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FLNA FOXF1 GLI1 GLI3 GPC3 GPC4 HPSE2 HS2ST1 LAMA3 LAMB3 LAMC2 LMOD1 LONP1 MAD2L2 MBTPS2 MED12 MKKS MYH11 MYLK NAA10 NDUFAF3 PALB2 PIEZO2 PIGN PIGT PLD1 PRKACA PRKACB RAB23 RAD51 RAD51C RFWD3 RIPK4 RNU4ATAC SETBP1 SLX4 SMC3 SOS2 SOX17 TBX18 TP63 UBE2T WFS1 XRCC2 HP_HYDROXYPROLINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROXYPROLINEMIA SLC36A2 SLC6A18 SLC6A19 SLC6A20 TNFRSF11B HP_HYDROXYPROLINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROXYPROLINURIA ALDH4A1 PLOD2 PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20 TNFRSF11A TNFRSF11B HP_HYPERACTIVE_DEEP_TENDON_REFLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES ATP6AP2 ATXN1 ATXN2 BEAN1 DNM1L GALC GJA1 KCNC3 MAB21L1 MECP2 MRE11 PMP22 PRNP PRPS1 PRRT2 PRSS12 SAMD9L SDHA SDHAF1 SDHB SDHD SLC2A1 SMG9 STUB1 TANGO2 TIMM8A UROC1 HP_HYPERACTIVE_PATELLAR_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_PATELLAR_REFLEX ALDH18A1 ANO10 ARL6IP1 ATP13A2 COX4I1 HARS1 HEXB IBA57 MTPAP NONO PGM3 SACS SDHA SDHAF1 SDHB SDHD SIGMAR1 HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM BSND CLCNKA CLCNKB KCNJ1 NR3C2 SCNN1A SLC12A1 SLC26A3 HP_HYPERACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVITY AARS1 AASS ABCD1 ACTL6B ACY1 ADAT3 ADGRL1 ADH5 ADNP ADSL AFF2 AGO1 AGO2 ALDH5A1 ALG14 ALKBH8 AMT ANAPC1 ANK3 ANKRD11 ANKRD17 AP1G1 AP2M1 AP3B2 APC2 ARG1 ARID1A ARID1B ARID2 ARPC4 ARV1 ARVCF ARX ASH1L ASPM ATP10A ATP1A1 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP9A ATR ATRX AUTS2 BAP1 BAZ1B BCAP31 BCL7B BCORL1 BCR BMPR1A BRD4 BSCL2 BUD23 C12orf4 CABP4 CACNA1A CACNA1B CACNA1C CACNA1H CACNA2D1 CAMTA1 CARS1 CASK CC2D1A CCBE1 CDC42BPB CDH11 CDH2 CDK19 CDK8 CDKL5 CDKN1C CDON CELF2 CHD2 CHD3 CHD5 CHD7 CHD8 CHKA CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIC CLCN3 CLCN4 CLIP2 CLN5 CLTC CNKSR2 CNTNAP2 COMT CORO1A CRBN CREBBP CRH CRKL CSGALNACT1 CSNK2A1 CUL3 CUL4B CUX2 CYFIP2 CYP27A1 DALRD3 DCDC2 DDB1 DDX3X DEAF1 DENND5A DEPDC5 DHCR7 DHDDS DHTKD1 DISP1 DLG3 DLL1 DMPK DMXL2 DNAJC12 DNAJC21 DNAJC30 DNM1 DPF2 DPH1 DPH2 DPP6 DPYD DRD4 DRD5 DYM DYNC1I2 DYRK1A EBP EEF1A2 EIF2AK1 EIF4H ELN EP300 EPCAM FAN1 FANCD2 FANCL FBXO11 FBXO28 FGD1 FGF12 FGF13 FGF8 FGFR1 FGFR3 FKBP6 FLCN FLG FLI1 FLII FMR1 FOXG1 FOXH1 FOXP1 FOXP2 FRMPD4 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALT GAMT GAS1 GATA4 GATAD2B GLDC GLI2 GLRA2 GLUD1 GNAO1 GNAQ GNB1 GNB5 GNE GNS GP1BB GRIA1 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C5 HAL HCN1 HDAC4 HDAC8 HDC HEPACAM HERC2 HGSNAT HIRA HIVEP2 HMGA2 HNRNPH2 HNRNPK HNRNPR HOXA2 HSPG2 HTT HUWE1 IFNG IGF1 IGF2 IKBKG IL1RAPL1 INPP5E IQSEC1 IQSEC2 JARID2 JMJD1C JRK KANSL1 KAT5 KAT8 KCNA1 KCNA2 KCNA4 KCNB1 KCNC2 KCNK9 KCNN2 KCNT1 KDM3B KDM4B KDM5C KDM6B KIF11 KIF14 KIF15 KMT2A KMT2B KMT5B KPNA3 KRAS LGI3 LHCGR LIG4 LIMK1 LMAN2L LNPK MADD MAGEL2 MANBA MAP1B MAPK1 MAPK10 MBD5 MCTP2 MECP2 MED12 MED12L MED13 MED13L METTL27 METTL5 MICU1 MID2 MKRN3 MLH1 MLH3 MLXIPL MSH2 MSH6 MTOR NAA15 NAGLU NBEA NBN NCF1 NDP NECAP1 NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NIPA1 NIPA2 NIPBL NKAP NKX2-1 NLGN1 NODAL NOP56 NPAP1 NR2F1 NSD1 NSD2 NSDHL NSUN2 NTNG2 NTRK1 NTRK2 NUS1 OCA2 OCRL ODC1 OPHN1 PACS2 PAH PAK3 PANK2 PARS2 PCDH19 PCGF2 PCNT PDCD6IP PDE4D PDGFRB PDZD8 PHF21A PHIP PIDD1 PIEZO2 PIGP PIGQ PIK3CA PLA2G6 PLAG1 PLCH1 PMS1 PMS2 PNKP PNP POGZ POLA1 PPM1D PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP3CA PRKAR1B PRKCG PRKD1 PRNP PRODH PRR12 PSMB1 PSMD12 PTCH1 PTCHD1 PTEN PUF60 PUS7 PWAR1 PWRN1 RAB39B RAC1 RAD21 RAI1 RERE RFC2 RFX7 RIC1 RPS20 RREB1 RSRC1 RUSC2 SATB2 SCAPER SCN1A SCN1B SCN2A SCN3A SCN8A SEC24C SEMA3E SEMA4A SETBP1 SETD2 SETD5 SGSH SH2B1 SH3KBP1 SHANK3 SHH SHMT2 SHOC2 SHROOM4 SIK1 SIM1 SIN3A SIX3 SLC13A5 SLC1A2 SLC1A4 SLC25A13 SLC25A22 SLC25A36 SLC2A1 SLC32A1 SLC38A3 SLC6A1 SLC6A19 SLC6A8 SLC7A6OS SLC9A7 SLF2 SLITRK1 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SOX5 SOX6 SPEN SPG7 SPR SPRED1 SPTBN1 SRCAP SRPX2 STAG2 STEEP1 STIL STS STX1A STXBP1 SUPT16H SYNGAP1 SYNJ1 SZT2 TAF1 TAF6 TANC2 TAOK1 TBC1D23 TBC1D2B TBL1X TBL2 TBX1 TBX2 TCF20 TDGF1 TET3 TGFBR2 TGIF1 THRB TIAM1 TIMM8A TKT TLK2 TMCO1 TMEM147 TMEM222 TMEM270 TMEM67 TNIK TNPO2 TNRC6B TPH2 TRAK1 TRAPPC14 TRAPPC9 TRIM8 TRIO TRIP12 TSC1 TSC2 TSHB TSHR TTI2 TUBA1A TUBB2B TUBB3 TUBG1 UBA5 UBE3A UBE3C UBE4A UBTF UFD1 UPF3B UQCC2 USP7 VPS13A VPS37D WAC WBP11 WDR62 WWOX YME1L1 YWHAG YY1 ZBTB20 ZDHHC9 ZIC2 ZMIZ1 ZMYM2 ZNF292 ZSWIM6 HP_HYPERACUSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACUSIS BAZ1B BCL7B BUD23 CLIP2 DEAF1 DNAJC30 EIF4H ELN FKBP6 FLII GM2A GTF2I GTF2IRD1 GTF2IRD2 HEXB IQSEC2 LIMK1 METTL27 MLXIPL NCF1 PPM1D RAI1 RFC2 STX1A TBL2 TMEM270 TRIO VPS37D HP_HYPERALDOSTERONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERALDOSTERONISM ARMC5 BSND CACNA1D CACNA1H CDKN2A CLCN2 CLCNKA CLCNKB CTNNB1 CYP11A1 CYP11B1 CYP11B2 GNAS INSR KCNJ1 KCNJ10 KCNJ16 KCNJ2 KCNJ5 NR3C2 OCRL PRKAR1A SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3 TERT TP53 ZNRF3 HP_HYPERAMMONEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAMMONEMIA AASS ACAD9 ACADM ACADVL ACAT1 ALDH18A1 ALG11 ARG1 ASL ASS1 ATP5F1A ATP5F1B ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BTD CA5A CAD CARS2 COX6B1 CPS1 CPT1A CPT2 CYC1 DLD EIF2AK3 FBXL4 FOCAD GLUD1 GLUL GOT2 HADH HADHA HADHB HLCS HMGCL HSD17B10 IARS1 LRPPRC MARS1 MCCC1 MCCC2 MECP2 MMAA MMAB MMACHC MMUT MRM2 MRPS22 MT-ATP6 MT-ATP8 MTO1 NAGS NBAS NDUFA6 NR1H4 OTC PCCA PCCB PDHB RINT1 SERAC1 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC25A36 SLC25A42 SLC7A7 TANGO2 TMEM70 TSFM TUFM UQCRC2 UQCRH HP_HYPERAUTOFLUORESCENT_MACULAR_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_MACULAR_LESION ARL6 ARSG BBS1 CCDC28B CFAP418 CFH CFI EFEMP1 GUCA1A GUCY2D POMGNT1 PRPH2 TLCD3B HP_HYPERAUTOFLUORESCENT_RETINAL_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_RETINAL_LESION ARL6 ARSG BBS1 CCDC28B CFAP418 CFH CFI EFEMP1 GUCA1A GUCY2D IDH3A KIAA1549 KIF3B POMGNT1 PRPH2 TLCD3B HP_HYPERCALCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCALCEMIA ALPL AP2S1 APC2 BAZ1B BCL7B BTNL2 BUD23 CASR CCND1 CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CLIP2 CYP24A1 DLST DNAJC30 DNMT3A EIF4H ELN EPAS1 FH FKBP6 GALNT3 GCM2 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 KIF1B KL LDHA LIMK1 MAX MDH2 MEN1 METTL27 MLXIPL NCF1 NF1 NOTCH3 NSD1 PDGFRB PIGT PIK3C2A PTH1R RET RFC2 SDHA SDHAF2 SDHB SDHC SDHD SETD2 SLC12A1 SLC25A11 SLC34A1 SLC5A1 STX1A TBL2 TMEM127 TMEM270 TNFRSF11A TRIO VHL VPS37D HP_HYPERCHLOREMIC_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLOREMIC_ACIDOSIS CTNS CUL3 EHHADH GALT GATM KLHL3 NDUFAF6 NEUROG3 SLC34A1 SLC4A1 SLC4A4 WNK1 WNK4 HP_HYPERCHLORIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLORIDURIA BSND CLCNKA CLCNKB KCNJ1 SLC12A1 HP_HYPERCHOLESTEROLEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHOLESTEROLEMIA ABCB4 ABCG5 ABCG8 AGPAT2 ALB APOB APOC2 APOE APTX ATP6AP1 BSCL2 CAV1 CAV3 CAVIN1 CCDC115 CEP19 CETP COG4 CREB3L3 CYP7A1 DEAF1 DGAT1 DIO1 DLK1 DYRK1B FLII FOS GALK1 GHR IFT172 IQSEC2 JAG1 KIF12 LDLR LDLRAP1 LIPA LIPC LMNA LPL MEF2A MEG3 MYO5B NUP107 OCRL PCSK9 PHKA2 PHKB PHKG2 PIK3R5 PNKP PPARG PYGL RAI1 RSPO1 RTL1 SETX SLC25A13 SLC25A36 SLC37A4 SLC7A7 TBL1X TDP1 TMEM199 TSHB TTC26 TTPA HP_HYPERCOAGULABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCOAGULABILITY AGGF1 ANK1 DLD EPB42 F5 F9 GATA2 HBB HRG MYD88 PROC PROS1 SLC4A1 SPTA1 SPTB THBD HP_HYPERCONVEX_FINGERNAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_FINGERNAILS CPLX1 CTBP1 FGFRL1 LETM1 MBTPS2 NSD2 PLEC PTDSS1 RPS6KA3 HP_HYPERCONVEX_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_NAIL ARX CPLX1 CTBP1 ECE1 FGFRL1 H3-3B HPGD LETM1 MBTPS2 NSD2 ORC1 PIGV PLEC POMP PTDSS1 RECQL RNU4ATAC RPS6KA3 SETBP1 SIN3A TCF4 TP63 HP_HYPERECHOGENIC_PANCREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERECHOGENIC_PANCREAS ASXL1 DNAJC21 EFL1 NPHP3 PTRH2 HP_HYPEREOSINOPHILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREOSINOPHILIA CARD9 EXTL3 IPO8 NLRP1 SPINK5 TRAC HP_HYPERESTHESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERESTHESIA ATL1 COL1A1 GALC HRAS NALCN NF2 NTRK1 PSAP UNC80 HP_HYPEREXTENSIBILITY_AT_ELBOW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_ELBOW CAMTA1 COL5A1 HYAL1 IFITM5 KMT2A SON HP_HYPEREXTENSIBILITY_AT_WRISTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_WRISTS COL12A1 COL6A1 COL6A2 COL6A3 HYAL1 PYCR2 RNF13 HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS ASAH1 BRAF COL1A2 COL5A1 FBN1 FGD1 GNB2 GORAB HDAC4 HRAS IFITM5 KCNH1 LMX1B MED12 NFASC OTUD6B PIGG PKDCC PLAA PRR12 PTDSS1 RPS6KA3 SMS SP7 TMCO1 HP_HYPEREXTENSIBILITY_OF_THE_KNEE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_KNEE ALDH18A1 ANO5 AP4B1 AP4E1 AP4M1 AP4S1 B4GALT7 CANT1 CDT1 CFL2 CHST3 COL1A2 COL5A1 COMP CSGALNACT1 CTDP1 ELN FBLN5 FBN1 FGD1 FGFR3 GRIA3 HRAS KRAS LMX1B MAN2C1 MCOLN1 MEFV NRAS ORC1 PDGFRB PRR12 PTEN SH3PXD2B SKI SLC6A9 TNFRSF1A TRIP11 WASF1 XYLT1 HP_HYPEREXTENSIBLE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBLE_SKIN ABCC6 ADAMTS2 ADAMTSL2 AEBP1 AKT3 ALDH18A1 ANTXR1 ATP7A B3GALT6 B3GAT3 B4GALT7 BRAF C1R C1S CHST14 CHST3 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSE EHMT1 ELN ENPP1 FBLN5 FBN1 FGD1 FGFR2 FKBP14 FLNA GBA1 GORAB H4C5 IARS1 INSR IPO8 KMT2C KRAS LZTR1 MAP2K1 MAP2K2 PAX2 PDGFRB PLOD1 PRDM5 PTPN11 PUF60 PYCR1 RAF1 RIN2 RIT1 SHOC2 SKI SLC26A2 SLC2A10 SLC39A13 SLC7A7 SMARCD2 SON TGFB2 TNXB TWIST2 WLS XYLT2 YY1 ZNF469 HP_HYPERGALACTOSEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGALACTOSEMIA GALE GALK1 GALM GALT SKIC3 SLC25A13 SLC2A2 HP_HYPERGASTRINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGASTRINEMIA CDKN1A CDKN1B CDKN2B CDKN2C MCOLN1 MEN1 HP_HYPERGLUTAMINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLUTAMINEMIA ASL ASS1 CA5A COX16 GLS LIPT1 NAGS OTC SLC7A7 HP_HYPERGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLYCEMIA ABCC8 ACAT1 AFF4 APPL1 ARMC5 BBS9 BCS1L BLK BMP6 CACNA1S CEL CYC1 DYRK1B ENPP1 GABRA3 GATA6 GCK GLI3 GYS2 HFE HNF1A HNF4A HYMAI IL6 INS INSR ITPR3 KCNE3 KCNJ11 KCNJ18 KHK KLF11 LMNA LRPPRC NARS2 NEUROD1 PAX4 PDX1 PIK3R1 PLAGL1 PPARG PRORP PTF1A PTPN22 RFX6 RIMS2 SCN4A SH2B1 SHPK SLC2A2 SLC5A2 STAT3 TFG ZFP57 ZMPSTE24 HP_HYPERGLYCINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLYCINURIA ACADM ALDH4A1 AMT GLDC GLYCTK IVD MCCC2 NFU1 PCCA PCCB PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20 HP_HYPERGONADOTROPIC_HYPOGONADISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGONADOTROPIC_HYPOGONADISM AHSG ALMS1 AMACR BMP15 BMPR1B BRCC3 CLPP COQ2 CTDP1 CYB5A CYP17A1 CYP19A1 DCAF17 DHH DHX37 DMRT3 FANCA FANCB FANCC FANCD2 FANCE FOXL2 GALK1 GALT GATA4 GNAS ITGB6 LEP LEPR LHCGR LIG3 LMNA LSS MAP3K1 MGME1 MRE11 MRPS7 NR0B1 NR5A1 NUP107 PMM2 POLA1 POLG POLR1C POLR3A POLR3B PRORP RIN2 RRM2B SAMD9 SCP2 SIL1 SLC29A3 SOX9 SQSTM1 SRY TWNK TYMP VAMP7 WT1 WWOX ZBTB20 ZFPM2 HP_HYPERGRANULOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGRANULOSIS AAGAB ALOX12B ALOXE3 ATP2A2 CARD14 CERS3 COL14A1 DSG1 ENPP1 GJA1 GJB3 KRT1 KRT16 KRT9 LIPN LORICRIN PNPLA1 POGLUT1 SDR9C7 SERPINB7 WNT10A HP_HYPERHIDROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERHIDROSIS ABCC8 AIP ALDOB ATP1A2 ATP1A3 BCL10 BIRC3 BOLA3 BRAF CACNA1A CACNA1S CCND1 CDH23 CDH3 CDKN2A CDSN CFTR CLCF1 CLCN6 CLCNKB COL17A1 COL6A1 COL6A2 COL6A3 CRLF1 CTC1 CTNNB1 CTSB CUL4B DDC DKC1 DLST DNMT3A DSG1 DST ELP1 EPAS1 FGFR2 FH FLRT1 FOXP1 FUCA1 GABRA3 GNA14 GPR101 GRB10 H19 HEXB HINT1 HLA-B HLA-DRB1 HMBS HNF1A HNF4A HNRNPK HPGD HRAS IGF2 IGHMBP2 IKBKG IL12B IL6ST JAK2 JUP KCNA1 KCNJ11 KCNJ18 KIF1A KIF1B KLC2 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT9 LAMB3 LIFR LPAR6 MALT1 MAP2K1 MAP2K2 MAX MBTPS2 MDH2 MEN1 MLX MPL NECTIN1 NF1 NGLY1 NHP2 NLRP3 NOP10 NPM1 NTRK1 P4HA2 PARN PERP PHOX2B PLAA PRKAR1A PRNP PTPN22 RET RETREG1 RSPO1 RTEL1 SCN11A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SERPINB7 SHQ1 SLC12A3 SLC18A2 SLC1A3 SLC25A11 SLC39A14 SLCO2A1 SLURP1 SPR SPRED2 SUCLA2 SUCLG1 TAT TERC TERT THPO TINF2 TMEM127 TP53 TRANK1 TRPV3 TYMS UCP2 USB1 VHL WNK1 WNT10A WRAP53 YY1 ZNRF3 HP_HYPERINSULINEMIC_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINSULINEMIC_HYPOGLYCEMIA ABCC8 APPL1 BLK CDKN1B CEL FOCAD GCK GLUD1 HADH HNF1A HNF4A INS INSR KCNJ11 KLF11 MAFA MEN1 MPI NEUROD1 PAX4 PDX1 SLC16A1 TRMT10A UCP2 YY1 HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI ABCC9 ABHD16A ACTA2 ACTL6B AHCY AKT3 ALG2 AP5Z1 ARSA ATN1 B4GALNT1 CACNA1G CAMK2A CLN5 CLN8 CNBP CNKSR2 CNP COL4A1 CREBBP CSF1R CYP27A1 CYP7B1 DDHD2 DPYD EP300 GAA GFM2 GM2A GNB2 HTRA1 LEMD2 LMNB1 MMACHC MSTO1 MTOR NEUROD2 NKX6-2 NOTCH3 NSUN3 ODC1 PAK1 PDP1 PI4KA PIK3CA PLP1 PRORP PSAP PUS3 PYCR2 RAB3GAP2 RARS1 RFT1 RPL10 SDHB SELENOI SLC18A3 SLC39A14 SPG11 SPG21 STRADA SUOX TM4SF20 TMEM222 TRAPPC12 TREX1 TRPM3 UBTF WARS1 ZFYVE26 HP_HYPERKALEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKALEMIA ABCB6 ALDOA CA12 CACNA1S CUL3 CYP11A1 CYP11B2 GABRA3 HSD3B2 INVS KCNJ18 KLHL3 LPIN1 MC2R MRAP MT-CO1 MT-CO3 NFKB2 NNT NR3C2 OBSCN PAX2 PBX1 POLG2 POR RYR1 SAMD9 SCN4A SCNN1A SCNN1B SCNN1G SLC2A1 SLC30A9 SLC4A2 STAR TBX19 TXNRD2 WNK1 WNK4 HP_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOSIS AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 ADAM10 ADAMTS2 AKT1 ALDH3A2 ALOX12B ALOXE3 ANAPC1 ANGPT2 ANKRD1 AP1B1 AP1S1 AQP5 ASPRV1 ATL1 ATL3 ATP2A2 ATP2C1 BAG3 BAG5 BRAF CAP2 CARD14 CAST CD28 CDH3 CDSN CERS3 CFTR CLEC7A COG6 COL12A1 COL14A1 COL17A1 COL6A1 COL6A2 COL6A3 COL7A1 CRYAB CSRP3 CST6 CSTA CTC1 CTLA4 CTSC CYP4F22 DDB2 DDR2 DES DIP2B DKC1 DMD DNAJC21 DOLK DSC2 DSC3 DSG1 DSG2 DSG4 DSP DST ECM1 ELMO2 ELOVL1 ELOVL4 ENPP1 EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERMARD EXPH5 FERMT1 FGFR2 FHL2 FIG4 FKBP14 FKTN FLG FLT4 FUCA1 GATAD1 GBA1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GLA GLS GMPPA GRHL2 HAND2 HDAC6 HLA-B HLA-DRA HPGD HRAS IKBKG IL17F IL17RA IL17RC IL1RN INSR ITGB4 JPH2 JUP KANK2 KANSL1 KDF1 KDSR KITLG KLHL24 KLLN KRAS KRT1 KRT10 KRT13 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT81 KRT83 KRT86 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LIPN LMNA LMOD2 LORICRIN LRP1 LSS LZTR1 MAD1L1 MAP2K1 MAP2K2 MBTPS2 MCOLN1 MDFIC MMP1 MPDU1 MT-TS1 MTX2 MVK MYBPC3 MYH6 MYH7 MYPN NAGA NECTIN1 NECTIN4 NEU1 NEXN NHP2 NIPAL4 NLRP1 NOP10 NPM1 NSDHL PARN PDGFRB PEPD PERP PIEZO1 PIGL PIK3CA PKP1 PLEC PLN PLOD1 PMVK PNPLA1 POFUT1 POGLUT1 POLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PSENEN PTEN RAF1 RBM20 RBP4 RECQL4 RHBDF2 RIGI RIT1 RNU4ATAC RPL3L RSPO1 RTEL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINA12 SERPINB7 SERPINB8 SGCD SHOC2 SLC27A4 SLCO2A1 SLURP1 SMARCAD1 SNAP29 SOX18 SPTLC1 SPTLC2 SRD5A3 SREBF1 ST14 STS SULT2B1 TAF1A TAFAZZIN TARS1 TAT TCAP TERC TERT TGM1 TINF2 TMPO TMPRSS6 TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAF3IP2 TRAPPC11 TRIP4 TRPM4 TRPV3 TTN TXNRD2 TYMS TYR USB1 USF3 VCL VEGFC VEZF1 VPS33B WNT10A WRAP53 WRN XPA XPC ZC4H2 ZMPSTE24 ZNF750 HP_HYPERKERATOTIC_PAPULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOTIC_PAPULE AAGAB COL14A1 COL7A1 GJB2 GJB6 KRT1 KRT14 KRT5 LRP1 POFUT1 POGLUT1 PSENEN HP_HYPERKETONEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKETONEMIA COX6B1 GCDH PHKA2 PHKG2 SLC37A4 HP_HYPERKINETIC_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKINETIC_MOVEMENTS ALDH5A1 CACNA1B CACNA1E CAMK2B CLPB FRRS1L GAD1 GCH1 GNAO1 GNE GRIN1 GRIN2A HSD17B10 IQSEC2 LETM1 MTRR NEUROD2 NGLY1 PDE10A PNKD PRRT2 PSAP PTS PYCR2 RTTN SCN1A SCN2A SLC6A3 SLC9A6 SUCLA2 SUCLG1 SYT1 THOC2 TRAPPC11 VPS13A WARS2 YME1L1 ZNF142 HP_HYPERLIPIDEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPIDEMIA ABCA1 ABCG5 ABCG8 ABHD5 ACTN4 ADCY3 AEBP1 AGL AGPAT2 AKT2 ALB ALMS1 APOA5 APOB APOC2 APOE ARMC5 BSCL2 CAV1 CAVIN1 CELA2A CEP19 CETP CFH CFHR1 CFHR3 CIDEC CPT1A CPT2 CREB3L3 CYP19A1 CYP7A1 DCAF17 DEAF1 DEF6 DGAT1 DYRK1B EMD FARSA FECH FHL1 FLII FOS G6PC1 GK GLA GNAS GPD1 GPIHBP1 GYS2 HAVCR2 IQSEC2 JAG1 LCAT LDLR LDLRAP1 LEP LEPR LIPA LIPC LIPE LMAN1 LMF1 LMNA LPL LRP6 LYST MC4R MCFD2 MCM10 MTX2 MYO5A NPHS1 NPHS2 NSMCE2 PCSK9 PHKA2 PHKB PHKG2 PIGH PIGT PIK3CG PLIN1 PLVAP PNPLA2 POLD1 POLR3A PPARG PRF1 PSMB10 PSMB4 PSMB8 PSMB9 PYGL RAB27A RAI1 RSPO1 SAR1B SGPL1 SH2B1 SLC25A13 SLC29A3 SLC2A2 SLC37A4 SLC7A7 SMARCAL1 SMPD1 STX11 STXBP2 SYNE1 SYNE2 TFG TMEM43 TNFRSF9 TTPA UNC13D WRN XIAP XRCC4 YARS1 ZMPSTE24 HP_HYPERLIPOPROTEINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPOPROTEINEMIA ABCA2 ABCG5 ABCG8 ALB APOA2 APOA5 APOB APOC2 APOC3 APOE CCDC115 CELA2A CEP19 CETP CYP7A1 DYRK1B EMD EPHX2 FHL1 GHR GPIHBP1 LCAT LDLR LDLRAP1 LIPA LIPC LMNA LPL LRP6 PCSK9 PPP1R17 SLC25A13 SLC7A7 SMPD1 SYNE1 SYNE2 TMEM199 TMEM43 TTPA UBR1 HP_HYPERLORDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLORDOSIS ABCC9 ACAN ACP5 ACTA1 ADAMTS10 ADNP ALG14 ALG2 ALX3 AMER1 AP1G1 ARSB ARSK ASH1L BAZ1B BCL7B BCOR BCR BGN BICD2 BIN1 BUD23 CANT1 CAPN3 CAVIN1 CCDC8 CCN6 CFL2 CHST11 CHST3 CLCF1 CLIP2 COL10A1 COL11A2 COL12A1 COL1A2 COL27A1 COL2A1 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COLQ COMP CRKL CSGALNACT1 CTSK CUL7 DAG1 DDRGK1 DMD DNA2 DNAJC30 DNM2 DNMT3B DPAGT1 DUX4 DUX4L1 DYM DYSF ECEL1 EIF2AK3 EIF4H ELN EMD EXTL3 FBN1 FGFR2 FGFR3 FHL1 FKBP6 FKRP FKTN FLNB FN1 FRG1 FUCA1 GALNS GARS1 GFPT1 GLB1 GMPPB GNB2 GNPTG GSC GTF2I GTF2IRD1 GTF2IRD2 H4C5 HACD1 HACE1 HERC1 HNRNPA1 HNRNPA2B1 HNRNPH2 HSPG2 IARS2 IHH INPP5K ITCH ITGA7 KANSL1 KIF1A KLHL41 KNSTRN KY L1CAM LAMA2 LBR LIMK1 LIPE LMNA LMOD3 LMX1B LTBP1 MAP3K20 MAPK1 MAPK8IP3 MASP1 MATN3 MED12 MEGF10 METTL27 MFN2 MLXIPL MMP13 MTMR14 MYBPC1 MYH7 MYL2 MYPN NAA10 NCF1 NEB NECTIN1 NF1 NOTCH3 NPR2 NSDHL OBSL1 PCGF2 PIEZO2 PIK3C2A PIK3CD PLEC PLEKHG5 POLR3GL POMGNT1 POMK POMT1 POMT2 POP1 PPM1D PPP1R15B PRG4 PRKG2 PUS1 RAB33B RAB3GAP1 RAB3GAP2 RERE RET RETREG1 RFC2 RMRP RSPRY1 RYR1 SATB2 SCN4A SCN9A SELENON SETBP1 SETD5 SGCA SGCG SHOX SLC10A7 SLC26A2 SMARCAL1 SMCHD1 SON SOX5 SPEG SPTLC1 STX1A SYNE1 SYNE2 SYT1 TBL2 TBX6 TFAP2A TFE3 TGFB1 TMEM270 TMEM43 TMEM63C TNNT1 TOGARAM1 TONSL TOR1A TPM2 TPM3 TRAPPC11 TRAPPC2 TRPS1 TRPV4 TTN TWIST1 VAC14 VCP VPS13B VPS33A VPS37D WNK1 XYLT1 ZC4H2 HP_HYPERLYSINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLYSINURIA AASS NADK2 SLC3A1 SLC7A7 SLC7A9 HP_HYPERMAGNESEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMAGNESEMIA ALDOB AP2S1 CASR CLCNKB CLDN10 GNA11 SLC12A3 HP_HYPERMETHIONINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETHIONINEMIA ADK AHCY CBS FAH GNMT MAT1A SKIC3 SLC25A13 TFAM HP_HYPERMETRIC_SACCADES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETRIC_SACCADES ANO10 ATXN1 GDAP2 GRM1 KCNN2 PRDX3 TMEM240 TPP1 VPS13D VPS41 XRCC1 HP_HYPERMETROPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETROPIA ADGRL1 ADNP ALDH1A3 APC2 ARSG ARV1 ASH1L ASXL3 ATF6 ATP6AP1 ATP6V1A B3GAT3 B4GALT7 BAZ1B BCL11B BCL7B BEST1 BICRA BLOC1S3 BLTP1 BUD23 CABP4 CACNA1F CACNA1G CACNA2D4 CAMSAP1 CASZ1 CCDC47 CDH23 CENPT CEP78 CHAMP1 CHD3 CHMP1A CHST3 CIB2 CLCN3 CLDN11 CLDN16 CLIP2 CLP1 CLRN1 CNGA3 CNGB3 CNNM4 CNOT3 COL11A2 COL25A1 COL3A1 COL4A1 CRB1 CREBBP CSGALNACT1 CSTA CTCF CTNNB1 DDX6 DNAJC21 DNAJC30 DPF2 DYRK1A EHMT1 EIF4H ELN EMC1 EP300 EPRS1 ERCC6 ERCC8 ERMARD ESPN FAM111A FBXO11 FGD1 FGF3 FKBP6 FKTN FLCN FOXL2 GABRD GATAD2B GJA1 GJA5 GJA8 GNAT1 GNAT2 GNB2 GNB3 GPR179 GRK1 GRM6 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HARS1 HDAC8 HERC2 HIVEP2 HNRNPK HNRNPR HSPG2 HUWE1 IARS2 IFT122 IFT172 IFT43 IFT52 IQSEC2 KANSL1 KAT5 KAT8 KCNAB2 KDM5C KERA KIAA0753 KIDINS220 KIF11 KIFBP KMT2B KMT2C KRT14 KRT5 LAMA1 LAS1L LCA5 LIMK1 LMBRD2 LRIT3 LRMDA LTBP2 LUZP1 MADD MAG MAGEL2 MAN1B1 MAN2B1 MARK3 MBD5 MED12 MED12L MED13L MED25 METTL27 MFRP MKRN3 MLXIPL MMP23B MSX2 MT-TS2 MYO7A NADK2 NBAS NCF1 NEK1 NFIX NMNAT1 NOG NPAP1 NR2F1 NSD1 NYX OGT OTUD5 OTX2 P4HTM PACS2 PAX2 PBX1 PCDH15 PCNT PDE4D PDE6B PDE6C PDE6H PDGFRB PDPN PGAP2 PGAP3 PGM2L1 PHIP PIEZO2 PIGG PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3R1 PLOD1 POGZ POLR3A POMT2 PPM1D PPP1R12A PQBP1 PRDM16 PRKCZ PRPS1 PRR12 PRSS56 PUF60 PWAR1 PWRN1 RAB11B RAD50 RAI1 RAX RERE RFC2 RHO RMRP ROBO1 RORA RPGR RPGRIP1 RPL10 RRAS2 RS1 SAG SATB1 SATB2 SETBP1 SETD2 SETD5 SHANK3 SHOC2 SIN3A SIX6 SKI SLC24A1 SLC25A24 SLC39A8 SLC6A6 SLC6A8 SMAD4 SNORD115-1 SNORD116-1 SNRPN SOBP SON SOX2 SPEN SRCAP STX1A SYNE1 SYT1 TAOK1 TASP1 TBC1D23 TBL2 TCEAL1 TCTN2 TGM5 TMEM270 TMEM98 TNPO2 TRPM1 TRPV4 TUBB4B TULP1 UBE4B UFC1 UQCC3 USH1C USH1G USP9X VPS37D WAC WDR19 WDR26 WDR35 WDR45 YME1L1 YY1 ZC4H2 ZFHX4 ZMYM2 ZNF148 HP_HYPERNASAL_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNASAL_SPEECH AGRN AMER1 ARHGAP29 ARHGEF38 ARVCF ATG7 ATP6V0A2 BAG3 BMP4 CADM3 CAMKMT CAMTA1 CDH1 CEP104 CHAT CNOT2 COBLL1 COL13A1 COMT CRLF1 DGCR2 DGCR6 DGCR8 DLG1 DLX4 DYNC1I2 ESS2 FOXP2 GMPPA GP1BB GRHL3 GRIN2A HERC2 HIRA IL1RAPL1 IQSEC2 IRF6 JMJD1C KANSL1 LIFR LRP12 MAGEL2 MATR3 MED12 MEGF10 MGME1 MGP MKRN3 MSX1 MUSK MYH3 MYMX MYO9A MYOT MYPN NALCN NECTIN1 NONO NOTCH3 NPAP1 PABPN1 PCNT PDGFRA PHF8 PLEC POLG PPM1B PQBP1 PREPL PWAR1 PWRN1 PYROXD1 RIC1 RILPL1 RREB1 SCN4A SEC24C SELENON SET SHOC2 SLC18A2 SLC18A3 SLC25A1 SLC3A1 SLC5A7 SMS SNAP25 SNORD115-1 SNORD116-1 SNRPB SNRPN SPG7 SRCAP SRPX2 SYT2 TBX1 TFAP2A TP63 TPM2 TPM3 TUBB6 TWNK UBB UFD1 UNC45B UPF3B VAMP1 ZBTB18 ZDHHC9 HP_HYPERNATREMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATREMIA AQP2 ARNT2 AVPR2 CA5A DSG1 FGFR1 SLC5A1 SYK HP_HYPERNATRIURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATRIURIA AVPR2 BSND CLCNKA CLCNKB CYP11A1 MC2R MRAP NNT STAR TXNRD2 HP_HYPEROPIC_ASTIGMATISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROPIC_ASTIGMATISM CHST6 GATAD2B GNPTAB GPR143 ROBO3 TBC1D2B HP_HYPERORALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERORALITY ATP10A CHMP2B CRLS1 DCTN1 GRN MAPT PRNP PSEN1 SHANK3 SNRPN SQSTM1 TMEM106B TREM2 UBE3A VCP HP_HYPEROSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROSTOSIS AKT1 ALMS1 AMER1 ANKH CA2 COL1A1 COX4I2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FGFR1 FLNA GALNT3 GJA1 GNAQ GNAS HNRNPA1 HNRNPA2B1 IDUA KRAS LEMD3 LRP4 LRP5 MAN2B1 MAP2K1 NOTCH3 OSTM1 PHEX PIK3CA PRKAR1A PTDSS1 PTEN RPS6KA3 SLC29A3 SLC39A14 SLCO2A1 SMAD4 SOST SP7 TBXAS1 TCIRG1 TGFB1 THOC2 TNFRSF11A TNFRSF11B TNFSF11 VCP WAS WIPF1 XPA XPC HP_HYPEROXALURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROXALURIA AGXT GRHPR HOGA1 OXGR1 PEX1 SLC26A1 HP_HYPERPARATHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPARATHYROIDISM ACTG2 AP2S1 ARMC5 CA2 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLDN10 CYP27B1 CYP2R1 FOXI1 GALNT3 GCM2 GNA11 GNAS KCNJ10 MEN1 OCRL PLEKHM1 RET SLC12A1 SLC26A4 SLC4A2 TRPV6 VDR YY1 HP_HYPERPHENYLALANINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHENYLALANINEMIA GCH1 PAH PCBD1 PTS QDPR SPR HP_HYPERPHOSPHATEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHOSPHATEMIA CACNA1S CASR FAM111A GALNT3 GCM2 GNA11 GNAS GNAS-AS1 KL LPIN1 MT-CO1 MT-CO3 OBSCN PRKAR1A PTH RYR1 STX16 TBCE TNFRSF11B HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS DSTYK HPS1 KRT14 MC1R OCA2 POLH UROD HP_HYPERPIGMENTATION_OF_THE_FUNDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_FUNDUS APC CAPN5 CFH CFI EFEMP1 MUTYH POU3F4 HP_HYPERPIGMENTATION_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_SKIN AAAS ABCB6 ABCC9 ABCD1 ACD ACP5 ACTB ADAR ADH5 AIP AKT1 ALAS2 ALDH3A2 ANAPC1 ANKLE2 ANTXR2 APC APC2 APOE ARL6IP6 ATM ATP2A2 ATP6V1B2 ATRX BANF1 BLM BMP2 BMP6 BRAF BRCA1 BRCA2 BRIP1 BTNL2 BUB1 BUB1B BUB3 C1R C1S CARD14 CASR CBL CD28 CDH23 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEP57 CHN1 CIB1 CLCN7 CLTRN COL17A1 COL25A1 COL3A1 COL7A1 COPB1 COX7B CPOX CREBBP CRIPT CSTA CTC1 CTLA4 CWC27 CYBA CYBB CYBC1 CYP11A1 CYP11B1 DDB2 DDX11 DHX30 DKC1 DNASE1L3 DPP9 DSTYK EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FERMT1 FGFR1 FGFR3 GATA1 GBA1 GJA1 GJB3 GJB4 GJB6 GMPPA GNA11 GNAQ GNAS GNB2 GPNMB GPR101 H4C5 HAMP HBB HCCS HEPACAM HFE HGD HJV HLA-DRB1 HMGA2 HPS1 HRAS HSD3B2 IFNG IGF1 IGF2 IKBKG IL12A IL12RB1 IL6 IL7 INSR IRF4 IRF5 JAK3 KANSL1 KCNH1 KCNMA1 KCNN3 KDM5C KDM6A KDM6B KDSR KIT KITLG KLLN KMT2D KNSTRN KRAS KRT14 KRT5 LBR LEMD3 LMNA LYST LZTR1 MAD2L2 MAFB MAN1B1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MAX MC1R MC2R MCM4 MED12 MEN1 MLH1 MMEL1 MMP2 MRAP MSH2 MSH6 MTOR MYO5A NBN NCF1 NCF2 NCF4 NDUFB11 NF1 NF2 NHP2 NNT NOD2 NOP10 NOTCH3 NPM1 NR0B1 NR3C1 NRAS NSD1 OCA2 PALB2 PANK2 PARN PAX6 PCNT PDE11A PDGFRA PDGFRB PHIP PIDD1 PIGN PIK3CA PIK3CD PLAG1 PLEC PLXND1 PMS2 POFUT1 POGLUT1 POLA1 POLE POLH PORCN POU2AF1 PPOX PPP1CB PRKAR1A PSENEN PSMB8 PTEN PTPN11 RAD51 RAD51C RAF1 RBBP8 RBM28 RECQL4 RERE RET REV3L RFWD3 RFX7 RIT1 RPA1 RPS27 RTEL1 SALL4 SASH1 SDHA SDHB SDHC SDHD SEC23A SEC23B SET SETBP1 SETD2 SGPL1 SH3PXD2B SHOC2 SKIC2 SKIC3 SLC27A4 SLC29A3 SLC40A1 SLC6A19 SLC9A1 SLF2 SLX4 SMARCA2 SMARCAD1 SMARCAL1 SMG8 SMS SNRPN SOX10 SPIB SPINK5 SPRED1 SRD5A3 ST3GAL5 STAR STEAP3 STK11 SVBP TERC TERT TFR2 TGM5 TINF2 TMC6 TMC8 TMEM127 TNFRSF1A TNFRSF1B TNFSF15 TNPO3 TOP3A TP53 TP53RK TP63 TRAPPC11 TRIP13 TSC1 TSC2 TUBB TWIST2 TXNRD2 TYMS UBE2A UBE2T UBR1 UROD UROS USB1 USF3 USP48 USP8 VHL WASF1 WBP11 WRAP53 XPA XPC XRCC2 ZFHX4 ZMPSTE24 HP_HYPERPIGMENTED_HYPOPIGMENTED_MACULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTED_HYPOPIGMENTED_MACULES ADAR DPP9 KRT5 PIGN SASH1 HP_HYPERPIGMENTED_PAPULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTED_PAPULE FLNA IDH1 KIT KRT5 POFUT1 POGLUT1 PSENEN HP_HYPERPITUITARISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPITUITARISM ABCD1 AIP AKT1 AR BAP1 BMP15 BMPR1B BNC1 BRAF C14orf39 CATIP CBX2 CCDC34 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CFTR CLPP CNBP CT55 CTNNB1 CYB5A CYP11A1 CYP17A1 DHH DHX37 DIAPH2 DMRT3 DNAH10 DNHD1 ERCC6 ESR1 ESR2 FANCM FBXO43 FGD1 FIGLA FKBP6 FMR1 FOXL2 FSHB FSHR GATA4 GCNA GDF9 GNAS GPR101 HFM1 HPGD HSD17B4 HSD3B2 IGF1 KCNJ11 KISS1R KLHL10 LARS2 LHB LHCGR MAP3K1 MCM4 MCM8 MCM9 MEIOB MEN1 MOV10L1 MRPS22 MSH4 MSH5 MSTO1 NANOS1 NF2 NR0B1 NR5A1 NSMCE2 NUP107 PDE11A PDGFB PDHA2 PIK3CA PMM2 PNLDC1 POLA1 POLR3A POLR3H POR PPP2R3C PRKAR1A PRLR PSMC3IP RNF212 RPL10L SHOC1 SLCO2A1 SMARCB1 SMARCE1 SMO SOHLH1 SOX9 SPAG17 SPIDR SRY STAG3 SUFU SYCE1 SYCP3 TAF4B TDRD9 TERB1 TERB2 TERT TEX11 TEX14 TEX15 TP63 TRAF7 TRHR TSHB VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7 HP_HYPERPLASIA_OF_THE_MAXILLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASIA_OF_THE_MAXILLA AP2M1 ESCO2 FHL1 HBB SIN3A SOBP SOX5 WDR26 ZBTB11 ZNF668 HP_HYPERPLASTIC_CALLUS_FORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASTIC_CALLUS_FORMATION IFITM5 KRT16 KRT17 KRT6A KRT6B HP_HYPERPROSTAGLANDINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPROSTAGLANDINURIA BSND CLCNKA CLCNKB KCNJ1 SLC12A1 SLCO2A1 HP_HYPERREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA AAAS AARS1 AARS2 AASS ABAT ABCA4 ABCB7 ABCC8 ABCC9 ABCD1 ABHD12 ABHD16A ACOX1 ACSL4 ACTA1 ADAR ADCY5 ADGRG1 ADSL AFG3L2 AGBL5 AGTPBP1 AHI1 AHR AIFM1 AIMP2 ALDH18A1 ALG11 ALG2 ALG3 ALG9 ALS2 AMACR AMFR AMPD2 AMT ANKLE2 ANO10 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APOE ARHGEF18 ARL2BP ARL3 ARL6 ARL6IP1 ARSA ARX ASNS ASPA ASPM ATAD1 ATG5 ATL1 ATP13A2 ATP1A2 ATP1A3 ATP5MC3 ATP5MK ATP6AP2 ATP6V1A ATP8A2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AUTS2 B4GALNT1 BAZ1B BBS1 BBS2 BCAS3 BCAT2 BCL7B BCS1L BEAN1 BEST1 BICD2 BRAT1 BRCA1 BRCA2 BRIP1 BSCL2 BUD23 C19orf12 C4A CA4 CA8 CACNA1A CACNA1E CACNA1G CADM3 CAMLG CAMSAP1 CAMTA1 CAPN1 CARS1 CASK CAV1 CC2D2A CCDC47 CCDC88A CCDC88C CCR1 CCT5 CD40LG CDC40 CDHR1 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CERKL CFAP418 CHCHD2 CHKA CHMP1A CHMP2B CHP1 CIT CLDN11 CLIP2 CLN5 CLP1 CLPB CLRN1 CLTRN CNGA1 CNGB1 CNP CNTNAP1 COG4 COG5 COPB2 COQ2 COQ5 COQ8A COQ9 COX10 COX11 COX4I1 COX5A CPT1C CRAT CRB1 CREBBP CRX CSF1R CTNNA2 CTSF CWF19L1 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DARS1 DARS2 DCC DCTN1 DDC DDHD1 DDHD2 DENND5A DGUOK DHDDS DHX38 DKK1 DLAT DNAJC30 DNAJC6 DNM1 DNM1L DNMT1 DPAGT1 DPM1 DPYD DSTYK DTYMK DYM DYNC1I2 EEF2 EIF2S3 EIF4H ELN ELOVL1 ELOVL4 ELP2 EMILIN1 EP300 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERLIN1 ERLIN2 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EYA1 EYS FA2H FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAS FBLN5 FBXO7 FDX2 FGF13 FKBP6 FKRP FLRT1 FRMPD4 FSCN2 FTL FUCA1 FUS FZR1 GAD1 GALC GAMT GAN GARS1 GBA1 GBA2 GCH1 GCLC GDAP2 GEMIN5 GFAP GFM1 GFM2 GGT1 GJA1 GJB1 GJC2 GLB1 GLDC GLE1 GLRA1 GLRB GLRX5 GLUL GLYCTK GM2A GMPPA GMPPB GNAQ GNB1 GNB2 GNS GOLGA2 GPAA1 GPHN GPT2 GRIA3 GRID2 GRIN1 GRM1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B H4C5 HARS1 HECTD4 HEXB HGSNAT HIBCH HIKESHI HLA-B HPDL HPRT1 HRAS HSPD1 HTRA1 HTRA2 HTT HUWE1 HYCC1 IBA57 IDH3A IDH3B IER3IP1 IFNGR1 IFRD1 IFT140 IFT172 IFT88 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E IREB2 IRF2BPL ISCA1 ISCA2 ITPR1 JAM2 JAM3 JPH3 KARS1 KATNB1 KCNA1 KCNC3 KCND3 KCNJ18 KCNJ6 KCNK4 KCNMA1 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KIAA1549 KIDINS220 KIF14 KIF1A KIF1C KIF5A KIZ KLC2 KLHL7 KLRC4 KNL1 KPNA3 KRAS KY L1CAM LARGE1 LBR LETM1 LIMK1 LMNB1 LRAT LRRK2 LYRM4 LYRM7 MAB21L1 MAD2L2 MAG MAK MAN2B1 MAPT MARS1 MARS2 MAT1A MATR3 MBOAT7 MCCC1 MCCC2 MCM7 MCOLN1 MCPH1 MECP2 MECR MED17 MEFV MERTK METTL27 METTL5 MFF MFN2 MFSD2A MICOS13 MICU1 MINPP1 MKS1 MLXIPL MMAA MORC2 MPLKIP MRE11 MRPS25 MRPS34 MSL3 MSTN MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TL2 MT-TN MT-TS1 MT-TV MT-TW MTPAP MTRFR MYL2 MYORG NAA10 NAA20 NADK2 NAGA NALCN NARS1 NARS2 NCAPD3 NCF1 NDE1 NDP NDUFA4 NDUFAF3 NDUFAF4 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFS8 NEFH NEK1 NEK2 NEU1 NFASC NFIX NIPA1 NKX6-2 NONO NOP56 NOTCH2NLC NR2E3 NR4A2 NRAS NRCAM NRL NSD1 NSRP1 NSUN2 NT5C2 NTRK2 NUBPL NUP214 NUP37 NUP54 NUP62 OCA2 OCLN OCRL OFD1 OPA1 OPA3 OSTM1 PAH PAK3 PALB2 PANK2 PARK7 PARS2 PAX1 PC PCARE PCDH12 PCLO PCYT2 PDE6A PDE6B PDE6G PDE8B PDGFB PDGFRB PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGM3 PHC1 PI4KA PIGA PIGN PIGP PIGT PINK1 PITRM1 PKDCC PLA2G6 PLCB1 PLP1 PLXNA1 PMM2 PMP22 PMPCA PNPLA6 PODXL POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 POU3F4 POU4F1 PPIL1 PPOX PPP1R15B PPP2R2B PQBP1 PRCD PRDM13 PRDM8 PRKCG PRKN PRKRA PRNP PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRUNE1 PSAP PSAT1 PSEN1 PTS PUS3 PYCR2 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARS1 RARS2 RBP3 RDH12 REEP1 REEP2 REEP6 REPS1 RFC2 RFT1 RFWD3 RFX7 RGR RHO RLBP1 RLIM RNASEH1 RNASEH2C RNF113A RNF170 RNF2 RNF220 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RTN2 RUBCN RUSC2 SACS SAG SAMD9L SARS1 SASS6 SCAPER SCN1A SCYL1 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEMA4A SEMA6B SEPSECS SET SETX SHMT2 SIGMAR1 SIK1 SLC12A2 SLC16A2 SLC18A2 SLC19A3 SLC1A3 SLC1A4 SLC20A2 SLC25A12 SLC25A15 SLC25A21 SLC25A22 SLC25A46 SLC29A3 SLC2A1 SLC2A3 SLC31A1 SLC33A1 SLC35C1 SLC38A3 SLC39A14 SLC39A8 SLC44A1 SLC46A1 SLC52A3 SLC6A19 SLC6A5 SLC6A9 SLC7A14 SLC9A7 SLX4 SMC5 SMG9 SNCA SNRNP200 SNRPN SOD1 SPART SPAST SPATA7 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN1 SPTBN2 SPTLC1 SPTLC2 SQSTM1 SRPX2 ST3GAL5 STAT4 STIL STUB1 STX1A SUMF1 SURF1 SYNE1 SYNJ1 TAF1 TAF13 TAF2 TANGO2 TARS1 TBCD TBK1 TBL2 TBX4 TCEAL1 TCTN2 TFG TGM6 TH TICAM1 TIMM50 TIMM8A TLR3 TLR4 TMEM106B TMEM270 TMEM63C TMEM67 TMX2 TNR TOE1 TOPORS TOR1A TPP1 TRAF3 TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC6B TREM2 TREX1 TRIO TRMT10A TRMT5 TRRAP TSEN15 TSEN2 TSPOAP1 TTBK2 TTC19 TTC8 TTR TUB TUBB2B TUBGCP2 TULP1 UBAC2 UBAP1 UBE2T UBE3A UCHL1 UFC1 UGDH UGP2 UNC93B1 UQCRQ UROC1 USH2A USP8 VAC14 VAMP1 VCP VLDLR VPS11 VPS13C VPS13D VPS37A VPS37D VRK1 VWA3B WARS1 WARS2 WASHC5 WDR4 WDR62 WDR73 WDR81 WLS WWOX XRCC2 ZC4H2 ZEB2 ZFR ZFYVE26 ZFYVE27 ZNF142 ZNF408 ZNF513 ZNHIT3 HP_HYPERREFLEXIA_IN_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA_IN_UPPER_LIMBS ABCC9 ALDH18A1 ANO10 ATP13A2 CAPN1 CYP2U1 ERLIN2 FAR1 FTL HSPD1 KIF5A KPNA3 REEP1 RTN2 SDHA SDHAF1 SDHB SDHD SPAST SPG11 SPTLC2 TMEM63C TNR UBAP1 VPS37A WASHC5 HP_HYPERSEGMENTATION_OF_NEUTROPHIL_NUCLEI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSEGMENTATION_OF_NEUTROPHIL_NUCLEI AMN CUBN FTCD MTHFD1 SFXN4 SLC19A1 HP_HYPERSOMNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSOMNIA AIP DUOX2 FOXE1 GPR101 HEXB NKX2-1 NKX2-5 PAX8 PRNP PRR12 SLC26A4 TDP2 TRANK1 TSHR HP_HYPERSPLENISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSPLENISM ASXL1 CASP10 CBL DZIP1L FAS FASLG GBA1 HBB ITCH LIPA MED12 NOTCH1 PKHD1 PRKCD PSAP RASGRP1 RUNX1 SCARB2 SMPD1 SRSF2 TET2 TULP3 HP_HYPERTELORISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTELORISM AARS1 ABCD4 ACOX1 ACTA1 ACTA2 ACTB ACTG1 ACTL6B ACY1 ADA2 ADAMTS3 ADAT3 ADGRG6 ADK ADNP AFF3 AFF4 AGA AHDC1 AIFM1 AKT1 AKT3 ALDH18A1 ALDH6A1 ALG1 ALG13 ALG6 ALG8 ALG9 ALX1 ALX3 ALX4 AMER1 ANAPC7 ANK1 ANKH ANKRD11 ANTXR1 AP1G1 AP4S1 APC ARID1B ARVCF ASH1L ASNS ASXL1 ASXL2 ASXL3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX AUTS2 AVP B3GAT3 B3GLCT B4GALT1 B4GALT7 B9D1 B9D2 BBS7 BCAS3 BCL11B BCORL1 BGN BICRA BLNK BLTP1 BMP2 BMPER BMPR1A BNC2 BPTF BRAF BRCA1 BRCA2 BRCC3 BRIP1 BRPF1 BUB1B C12orf57 CACNA1G CAMTA1 CARS1 CASK CBL CC2D2A CCBE1 CCDC22 CCDC32 CCDC47 CCND2 CCNK CD79A CD79B CDC42 CDC42BPB CDCA7 CDH1 CDH11 CDH2 CDK10 CDK13 CDK19 CENPF CENPJ CEP120 CEP290 CHD3 CHD4 CHD7 CHD8 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHSY1 CIT CLCN3 CLCN6 CLCN7 CNOT3 CNTN1 CNTNAP2 COG1 COL11A1 COL11A2 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COLEC10 COLEC11 COMT COX7B CPLANE1 CPLX1 CREBBP CSNK2A1 CSPP1 CTBP1 CTCF CTNND1 CTNND2 CTU2 DCHS1 DDR2 DDX3X DDX59 DDX6 DEAF1 DEF6 DHCR7 DHX37 DICER1 DLX4 DNAJC21 DNMT3A DNMT3B DOCK6 DOK7 DPF2 DPH1 DPH2 DPM1 DPYD DPYSL5 DSE DUSP6 DVL1 DVL3 EBF3 EBP EDEM3 EED EFEMP2 EFNB1 EHMT1 EIF2AK3 EIF5A ELN EMC1 EP300 EPB41L1 EPG5 ERCC2 ERCC3 ERCC4 ERF ERGIC1 ERMARD ESCO2 EXOC2 EXOSC9 EXT2 EXTL3 EZH2 FAM111A FAM149B1 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAT4 FBN1 FBXO11 FBXO31 FGD1 FGF17 FGF20 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FIG4 FLCN FLI1 FLII FLNA FLNB FOXC1 FOXE3 FOXF1 FOXG1 FOXP1 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FUCA1 FZD2 GAD1 GALNT2 GATA1 GATA6 GATAD2B GBA1 GFRA1 GJA1 GJA5 GJA8 GK GLB1 GLE1 GLI3 GNE GNPTAB GNRH1 GNRHR GNS GON7 GORAB GP1BB GPAA1 GPC3 GPC4 GREB1L GRIP1 GTF2E2 GTF2H5 H3-3A H4C11 H4C3 H4C9 HACE1 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HECTD4 HELLS HEPACAM HERC1 HEY2 HID1 HIRA HIVEP2 HMGA2 HNRNPH2 HNRNPU HPDL HRAS HS2ST1 HS6ST1 HSD17B4 HSPG2 HUWE1 IDUA IFT140 IFT43 IGHM IGLL1 IL11RA IL1RAPL1 IL6ST INPPL1 INSR INTS1 INTS8 INTU IPO8 IQSEC2 IRX5 ITCH ITGA3 ITGA8 JAG1 JARID2 JMJD1C KAT6B KATNB1 KATNIP KBTBD13 KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 KDM1A KIAA0586 KIAA0753 KIF15 KIF21A KIF7 KIFBP KISS1 KISS1R KLF13 KLHL41 KMT2A KMT2D KNL1 KNSTRN KPTN KRAS KREMEN1 LAGE3 LBR LEMD3 LETM1 LIG4 LMBR1 LMNA LMNB1 LOX LRP2 LRP4 LRP5 LRPPRC LRRC8A LTBP4 LZTR1 MACF1 MAD2L2 MAF MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MARS2 MASP1 MAT2A MBD5 MCTP2 MED12 MED12L MED13 MED13L MED25 MED27 MEF2C MEGF8 MFAP5 MGAT2 MICU1 MID1 MKS1 MMP2 MN1 MOCS1 MOCS2 MPLKIP MRAS MRPS14 MTOR MUSK MYH11 MYH3 MYLK MYOD1 MYPN NAA10 NALCN NARS1 NBAS NCDN NDE1 NEB NEDD4L NELFA NF1 NFASC NFIX NGLY1 NHLH2 NKX2-5 NKX2-6 NKX3-2 NONO NOTCH2 NOTCH3 NRAS NRCAM NSD1 NSD2 NSMCE3 NSMF NSRP1 NSUN2 NUP107 NUP133 NUP88 NXN ODC1 OFD1 OGT OSGEP OTUD5 PACS1 PACS2 PAFAH1B1 PAICS PALB2 PARS2 PAX3 PDE4D PDE6D PDGFRB PDHX PDZD8 PEPD PEX1 PEX2 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHACTR1 PHGDH PHIP PIEZO2 PIGA PIGB PIGG PIGL PIGN PIGO PIGV PIGW PIGY PIK3CA PIK3CD PIK3R1 PIK3R2 PITX1 PITX2 PLCB3 PLP1 PMM2 POC1A POGZ POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POR PPP1CB PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PRDM13 PRKACB PRKAR1A PRKG1 PRMT7 PROK2 PROKR2 PRORP PRPS1 PSAT1 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTRH2 PUS1 PYCR1 PYCR2 QRICH1 RAC3 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RB1 RBL2 RBM10 RECQL4 RELN RERE RET RFWD3 RIPK4 RIT1 RLIM RMRP RNF113A RNF2 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RSRC1 RUNX2 RUSC2 RYR1 SALL4 SCN1A SCNM1 SCYL2 SEC23A SEC24C SEC24D SEMA3E SEMA5A SET SETBP1 SETD1A SETD2 SH2B1 SH3PXD2B SHANK3 SHOC2 SIAH1 SIK3 SIN3A SIX2 SKI SKIC2 SKIC3 SLC12A6 SLC18A3 SLC1A4 SLC25A12 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35C1 SLC37A4 SLC39A13 SLC39A7 SLC45A1 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCD1 SMCHD1 SMG9 SMO SMS SNAP29 SNRPN SOS1 SOS2 SOST SOX6 SOX9 SPART SPECC1L SPEN SPI1 SPINT2 SPOP SPRED1 SPRED2 SPRY4 SPTBN1 SRD5A3 STAMBP STAT3 STRADA SUFU SUPT16H SUZ12 TAC3 TACR3 TAF1 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCD TBCE TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX4 TCF12 TCF3 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDO2 TELO2 TENM3 TFAP2A TFAP2B TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THOC2 THRA THSD1 THSD4 THUMPD1 TLK2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM231 TMEM237 TMEM53 TMEM67 TMEM94 TNFRSF11A TOGARAM1 TONSL TOPORS TP53RK TPM2 TPM3 TPRKB TRAPPC9 TRIM37 TRIO TRIP12 TRIP4 TRRAP TSR2 TTC26 TTC7A TUBA1A TUBB TWIST1 TWIST2 TXNDC15 TXNL4A UBE2A UBE2T UBE3B UBR7 UFC1 UFD1 UMPS USB1 VAC14 VPS35L VPS51 VSX1 WAC WARS2 WASHC5 WDPCP WDR11 WDR35 WDR37 WDR4 WDR73 WNT5A WNT9B XRCC2 XYLT2 YRDC YWHAE ZBTB18 ZBTB20 ZBTB24 ZEB2 ZIC1 ZIC2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF292 ZNF526 ZNF699 ZSWIM6 HP_HYPERTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSION ABCB4 ABCB6 ABCC6 ABCG5 ABCG8 ACAT1 ACP5 ACTA2 ACTN4 ACVRL1 ADA2 ADAMTSL4 AIP ALG5 ALG9 ALMS1 ALX4 ANGPTL6 APOA1 APOB APRT ARHGAP31 ARL6 ARMC5 ARVCF ATRX B2M BANF1 BANK1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICC1 BLK BMPR2 BNC2 BRAF BRCA2 BRCC3 BSCL2 BSND BUD23 C3 C4A C4B CACNA1D CACNA1H CAV1 CBS CC2D2A CCDC28B CCN2 CCND1 CCR6 CD2AP CD46 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CELA2A CEP164 CEP19 CEP290 CEP83 CFAP418 CFB CFH CFHR1 CFHR3 CFI CIDEC CLCN2 CLCNKA CLCNKB CLIP2 COL3A1 COL4A3 COL4A4 COL4A5 COMT COQ7 CORIN CPOX CR2 CTLA4 CTNNB1 CUL3 CYP11B1 CYP11B2 CYP17A1 CYP21A2 DCDC2 DEF6 DHCR7 DIS3L2 DLST DNAJB11 DNAJC30 DNASE1 DNMT3A DST DYRK1B DZIP1L ECE1 EDA EDA2R EGFR EIF4H ELN ELP1 ENG ENPP1 EPAS1 EPOR ERCC4 ERCC6 ERCC8 ETS1 EXOSC2 EXT2 FBN1 FCGR2B FCGR3B FGA FGFR2 FH FIG4 FKBP6 FLT1 FMO3 FMR1 FN1 FOXE3 FUZ G6PC1 GANAB GATA5 GBA1 GCH1 GEMIN4 GLA GNAS GP1BB GPC3 GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 H19 H4C3 HBB HEY2 HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HMOX1 HNRNPK HPSE2 HSD11B2 HTRA1 IDS IDUA IFIH1 IFNG IFT140 IFT172 IFT27 IFT74 IGHG1 IL10 IL12B IMPDH2 INF2 INVS IQCB1 IRAK1 IRF5 ITGA8 ITGAM JAK2 JAZF1 JMJD1C KCNJ10 KCNJ5 KCTD1 KIAA0319L KIF1B KLHL3 KRT18 LAMB2 LARS2 LBX1 LDLR LDLRAP1 LEMD3 LIMK1 LIPE LMNA LMX1B LOX LRIG2 LRP6 LRPPRC LYZ LZTFL1 MAFB MAT2A MAX MBTPS2 MC4R MDH2 MDM2 MECP2 MED12 MEF2A MEN1 METTL27 MFAP5 MGP MKKS MKS1 MLX MLXIPL MMP14 MMP2 MPL MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTRR MUC1 MYH11 MYLK MYMK MYMX NCF1 NDUFAF6 NF1 NFIX NKX2-5 NOD2 NOS3 NOTCH1 NOTCH2 NOTCH3 NPHP1 NPHP3 NPHP4 NR3C1 NR3C2 NR4A2 NSMCE2 OFD1 OSGEP PAM16 PAX2 PBX1 PCSK9 PDCD1 PDE11A PDE3A PHF21A PIGA PKD1 PKD2 PKHD1 PLIN1 POR POU3F4 POU6F2 PPARG PPOX PRKACA PRKAR1A PRKG1 PRTN3 PTPN22 PXK REST RET RFC2 RNU4ATAC RNU7-1 RREB1 SCAPER SCLT1 SCN2B SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SEC24C SERPINA6 SH2B3 SLC25A11 SLC2A10 SLC30A9 SLC35A2 SLC37A4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCAL1 SPP1 SPRY2 STAT1 STAT2 STAT4 STOX1 STX1A SUGCT TBL2 TBX1 TERT TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THBD THSD1 THSD4 TLR7 TMEM127 TMEM237 TMEM270 TMEM67 TMEM70 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF4 TNIP1 TOM1 TP53 TRAF3IP1 TREX1 TRIM28 TRIM32 TRIP13 TRPC6 TSC1 TSC2 TTC8 UBE2L3 UFD1 USP48 USP8 VAC14 VANGL1 VHL VPS37D WDPCP WDR19 WDR35 WNK1 WNK4 WRN WT1 XPNPEP3 XYLT1 XYLT2 YY1AP1 ZMPSTE24 ZNRF3 HP_HYPERTENSIVE_CRISIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_CRISIS ARVCF CAV1 CCN2 CCR6 COMT GP1BB HIRA HLA-B HLA-DRB1 IL12B IRF5 JMJD1C MLX MYMK MYMX RREB1 SEC24C TBX1 TLR7 UFD1 HP_HYPERTENSIVE_RETINOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_RETINOPATHY CCND1 DLST DNMT3A EPAS1 FH HSD11B2 KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL HP_HYPERTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTHYROIDISM AKT1 ARVCF BTNL2 CACNA1S CDH23 CLCNKB COMT DICER1 FMR1 FOXP3 GABRA3 GNAS GP1BB HIRA HLA-DRB1 JMJD1C KCNJ18 KCNJ2 KEAP1 MSTO1 PIK3CA POLG POLG2 POLR3A PTEN RREB1 RRM2B SEC24C SLC12A3 SLC25A4 SUGCT TBCK TBX1 THRB TSHR TWNK UFD1 HP_HYPERTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIA AARS1 AARS2 AASS ABCA12 ABCA7 ABCC8 ABCD1 ABHD12 ABHD16A ACADS ACAT1 ACD ACER3 ACOX1 ACP5 ACTA1 ACTL6B ADAM22 ADAR ADARB1 ADAT3 ADCY5 ADD3 ADGRG1 ADH1C ADNP ADSL AFF3 AFG3L2 AGA AGTPBP1 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALG11 ALG3 ALG9 ALS2 AMACR AMFR AMPD2 ANG ANK3 ANKLE2 ANXA11 AP1G1 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APOE APP ARF1 ARG1 ARHGAP31 ARHGEF9 ARL13B ARL6IP1 ARNT2 ARSA ARSI ARV1 ARX ASAH1 ASNS ASPA ASXL1 ASXL2 ASXL3 ATAD1 ATAD3A ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATPAF1 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AUTS2 B3GALNT2 B4GALNT1 B4GAT1 BAZ1B BCAS3 BCKDHA BCKDHB BCL11B BCL7B BCOR BCS1L BEAN1 BICD2 BMPR1A BOLA3 BRAF BRAT1 BRD4 BRF1 BSCL2 BTD BUD23 C12orf57 C19orf12 C2orf69 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA2D1 CAMK2A CAMK2B CAMLG CAMSAP1 CAPN1 CARS1 CARS2 CASK CCDC88C CCNF CCT5 CDC40 CDC42BPB CDK19 CDKL5 CDON CELF2 CEP85L CFAP410 CHCHD10 CHCHD2 CHKA CHMP1A CHMP2B CHP1 CIT CKAP2L CLCF1 CLCN3 CLCN4 CLDN11 CLIC2 CLIP2 CLN3 CLN5 CLN8 CLP1 CLPB CLTC CNKSR2 CNOT1 CNP CNPY3 CNTNAP1 CNTNAP2 COA8 COASY COG2 COG4 COL4A1 COL4A2 COLGALT1 COPB1 COPB2 COQ2 COQ5 COQ9 COX11 COX15 COX8A CP CPSF3 CPT1C CRLF1 CRPPA CRYAB CSF1R CTC1 CTNNA2 CTNNB1 CTSD CYB5A CYB5R3 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DAB1 DALRD3 DAO DARS1 DARS2 DBT DCTN1 DCX DDB2 DDC DDHD1 DDHD2 DDX3X DEGS1 DENND5A DHCR24 DHCR7 DHDDS DHPS DISP1 DKC1 DLAT DLD DLL1 DLL4 DMXL2 DNAJC12 DNAJC13 DNAJC19 DNAJC30 DNAJC6 DNM1 DNM1L DNMT1 DOCK6 DPAGT1 DPH5 DPM1 DPYD DSTYK DTYMK DYM DYNC1H1 DYNC1I2 DYRK1A EARS2 EBP ECHS1 EDNRB EED EEF1A2 EIF2AK1 EIF2AK2 EIF2AK3 EIF2B1 EIF2B2 EIF2B4 EIF2S3 EIF4G1 EIF4H ELN ELOVL1 ELOVL4 ELP2 EMC1 EML1 ENTPD1 EOGT EPCAM EPHA4 EPM2A EPRS1 ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN1 ERLIN2 EXOC2 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EYA1 EZH2 FA2H FAN1 FAR1 FARS2 FBLN1 FBXO28 FBXO7 FBXW11 FCSK FDX2 FDXR FGF12 FGF13 FGF8 FGFR1 FIG4 FKBP6 FKRP FKTN FLNA FLRT1 FMR1 FOXG1 FOXH1 FOXP1 FOXRED1 FRMD4A FRMD5 FRMPD4 FRRS1L FTL FTO FUCA1 FUS FXN FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRG2 GAD1 GALC GAMT GAN GAS1 GATAD2B GBA1 GBA2 GBE1 GCDH GCH1 GDAP2 GEMIN4 GFAP GFM1 GFM2 GIGYF2 GJA1 GJB1 GJC2 GLB1 GLE1 GLI2 GLRA1 GLRB GLRX5 GLT8D1 GLUD2 GLYCTK GM2A GMPPA GMPPB GNAI1 GNAO1 GNB1 GON7 GOT2 GPAA1 GPHN GPT2 GRIA2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRM7 GSS GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUF1 H1-4 H3-3A H4C5 HACE1 HCN1 HDAC8 HECTD4 HEPACAM HEXA HEXB HID1 HIKESHI HK1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HNRNPA1 HNRNPH2 HPDL HPRT1 HS2ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTRA2 HTT HUWE1 IARS1 IBA57 IDUA IFIH1 IKBKG IMPDH2 INPP5E INPP5K INTS8 IREB2 IRF2BPL ISCA1 ISCA2 ITM2B JAM2 JAM3 JPH3 KANK1 KARS1 KAT6A KATNB1 KCNA1 KCNA2 KCNA4 KCNB1 KCNC2 KCNC3 KCND3 KCNJ6 KCNN2 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KIDINS220 KIF11 KIF1A KIF1C KIF2A KIF5A KIF5C KIFBP KLC2 KMT2B KPNA3 KRAS KY KYNU L1CAM L2HGDH LAGE3 LAMB1 LARGE1 LBR LDHA LETM1 LIAS LIMK1 LINGO1 LIPT1 LIPT2 LMBRD2 LMNB1 LMX1B LNPK LOXL1 LRPPRC LRRK2 LSM11 LYRM7 LYST MACF1 MAG MAN2B1 MAPK8IP3 MAPT MARS1 MARS2 MATR3 MBOAT7 MCCC1 MCCC2 MCEE MCOLN1 MDH1 MECP2 MECR MED11 MED12 MED13L MED17 MED23 MED25 MED27 METTL27 METTL5 MFF MFN2 MFSD2A MGAT2 MICOS13 MICU1 MINPP1 MIPEP MLC1 MLH1 MLH3 MLXIPL MME MOCS1 MOCS2 MORC2 MPDU1 MPLKIP MRE11 MRM2 MRPS22 MRPS34 MSH2 MSH6 MSL3 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TI MT-TK MT-TL1 MT-TP MT-TT MT-TV MT-TW MTFMT MTHFR MTHFS MTO1 MTPAP MTRFR MTRR MYO5A NAA10 NACC1 NADK2 NAGA NALCN NARS1 NARS2 NAXD NAXE NCAPD3 NCAPG2 NCF1 NDE1 NDP NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFC2 NDUFS4 NDUFV1 NDUFV2 NECAP1 NEFH NEFL NEK1 NEU1 NEUROD2 NEXMIF NFASC NFIX NFU1 NHLRC1 NIPA1 NIPBL NKX6-2 NODAL NOP56 NOTCH1 NOTCH2NLC NOTCH3 NOVA2 NPC1 NPC2 NPHP3 NR2F1 NR4A2 NSD1 NSRP1 NSUN2 NT5C2 NTNG1 NTNG2 NTRK2 NUBPL NUP107 NUP133 NUP214 NUP54 NUP62 NUS1 OCLN ODC1 OGDH OGDHL OPA1 OPA3 OPHN1 OPTN OSGEP OSTM1 OTUD6B PACS2 PAFAH1B1 PAH PANK2 PARK7 PARN PARS2 PAX1 PAX3 PCBD1 PCCA PCCB PCDH12 PCDH19 PCLO PCYT2 PDCD1 PDE8B PDGFB PDGFRB PDHX PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PHACTR1 PHGDH PI4KA PIEZO2 PIGA PIGN PIGP PIGQ PIGU PIK3CA PINK1 PITX3 PLA2G6 PLAA PLCB1 PLCH1 PLK4 PLP1 PLPBP PMPCA PMPCB PMS1 PMS2 PNKD PNKP PNP PNPLA6 PNPLA8 PNPO PNPT1 PODXL POLA1 POLG POLG2 POLR1C POLR3A POLR3B POLR3GL POMGNT1 POMT1 POMT2 PON1 PON2 PON3 POU3F3 PPARGC1A PPFIBP1 PPIL1 PPP1R15B PPP3CA PPT1 PQBP1 PRDM13 PRDM8 PRF1 PRKCG PRKN PRNP PRORP PRPH PRPS1 PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PSEN2 PSMC1 PSPH PTCD3 PTCH1 PTPN23 PTS PUM1 PYCR2 QDPR RAB11B RAB18 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAD21 RAD50 RALGAPA1 RANBP2 RARS1 RARS2 RBPJ REEP1 REEP2 REPS1 RERE RETREG1 RFC2 RFT1 RHOBTB2 RLIM RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF170 RNF220 RNU4ATAC RNU7-1 ROGDI RPIA RPS20 RPS6KA3 RRM2B RTEL1 RTN2 RTTN RUSC2 RYR1 SACS SAMHD1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCYL1 SCYL2 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEMA4A SEMA6B SEPSECS SERAC1 SETBP1 SETX SHH SHMT2 SHQ1 SIGMAR1 SIK1 SIL1 SIX3 SIX6 SLC12A2 SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A10 SLC25A12 SLC25A15 SLC25A19 SLC25A22 SLC25A4 SLC25A46 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC31A1 SLC32A1 SLC33A1 SLC35A2 SLC35C1 SLC38A3 SLC39A14 SLC5A6 SLC6A19 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLF2 SLITRK2 SMC1A SMC3 SMG9 SMPD1 SMPD4 SNCA SNCAIP SNORD118 SNX14 SOD1 SON SORL1 SOX10 SOX2 SOX4 SPART SPAST SPATA5 SPATA5L1 SPG11 SPG21 SPG7 SPOP SPR SPTAN1 SPTBN1 SPTBN2 SPTLC1 SQSTM1 SRD5A3 SRPX2 STAG2 STAMBP STIL STN1 STT3A STUB1 STX1A STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SUZ12 SVBP SYNE1 SYNGAP1 SYNJ1 SZT2 TACO1 TAF1 TAF15 TAF2 TAF8 TANGO2 TARDBP TARS1 TARS2 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBK1 TBL1XR1 TBL2 TBP TCEAL1 TCF20 TCTN2 TDGF1 TDP1 TECPR2 TELO2 TERT TFG TGFB1 TGFBR2 TGIF1 TH THOC2 TIMM50 TIMM8A TINF2 TK2 TMEM106B TMEM222 TMEM231 TMEM240 TMEM270 TMEM63C TMEM67 TMTC3 TMX2 TNPO2 TNR TOE1 TOMM40 TOR1A TP53 TP53RK TPI1 TPK1 TPRKB TRAF7 TRAK1 TRAPPC12 TRAPPC4 TREM2 TREX1 TRIM8 TRIT1 TRMT10A TRMT5 TSEN15 TSEN2 TSEN34 TSEN54 TSPOAP1 TTC19 TTC26 TTPA TTR TUBA1A TUBB3 TUBB4A TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TWNK TXN2 TYROBP UBA5 UBAP1 UBE4A UBQLN2 UBTF UCHL1 UFC1 UFM1 UFSP2 UGDH UGP2 UNC13A UNC80 UQCRC1 USP8 VAC14 VAMP1 VAPB VARS2 VCP VPS11 VPS13A VPS13C VPS13D VPS35 VPS37A VPS37D VPS41 VPS4A VPS50 VPS53 VRK1 VWA3B WARS1 WARS2 WASHC4 WASHC5 WDR26 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WLS WWOX XPA XPC YIF1B YRDC YWHAG ZBTB11 ZC4H2 ZEB2 ZFR ZFYVE26 ZFYVE27 ZIC2 ZNF292 ZNF335 ZNF526 ZNF592 ZNF668 ZSWIM6 HP_HYPERTONIC_DEHYDRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIC_DEHYDRATION AQP2 AVPR2 CA12 SLC5A1 SPINK5 HP_HYPERTRICHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRICHOSIS ABCA5 ABCC9 ADAMTS3 ADAT3 AFF3 AFF4 AGPAT2 AIP ALG9 AMMECR1 ANKRD11 ARID1A ARID1B ARID2 ARL3 ARX ASH1L ASXL1 ASXL2 ASXL3 ATP6V1B2 B3GLCT BAP1 BCAS3 BGN BICRA BLM BMP2 BPTF BRD4 BSCL2 CAV1 CAVIN1 CCDC47 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDKL5 CDKN2A CDON CERT1 CHD5 CHMP1A CHRNA7 CHSY1 CKAP2L CLCN3 CLP1 COG7 COX5A CREBBP CSNK2A1 CTCF CTNNB1 CTSC CUL4B CWF19L1 DDB1 DEAF1 DHX30 DOCK7 DPAGT1 DPF2 EBF3 EDN3 EDNRB EHMT1 EMC10 EP300 ERLIN2 FBXO28 FBXO31 FGF3 FGFR1 FHL1 FLII FOS FRA10AC1 FREM1 GABRA3 GATA1 GJA5 GJA8 GJB4 GLB1 GNA14 GNB2 GNE GNS GPC3 GPC4 GPR101 HDAC8 HEATR3 HECTD4 HGSNAT HID1 HIVEP2 HMGA2 HNRNPU HSPA9 IDS IGF1R IL1RAPL1 IL6ST INSR IQSEC2 JARID2 KATNB1 KCNH1 KCNK4 KCNMA1 KCNN3 KDM1A KDM4B KIAA0753 KIF26A KIFBP KIT KLF13 KMT2A KNL1 KNSTRN KRT10 LEMD3 LTBP3 MAB21L1 MAN2B1 MAP1B MAPK1 MAPK8IP3 MAPRE2 MASP1 MBD5 MED13 MED27 MITF MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NAGLU NANS NDST1 NDUFA12 NECTIN1 NEU1 NFIX NIPBL NMNAT1 NOTCH2 NSUN2 NUDT2 NUS1 OGT PACS1 PACS2 PAX3 PCDHGC4 PGM2L1 PHF8 PHIP PIGN PIGU PIK3CD POLR3A PPARG PPOX PPP1R15B PRKAR1A PRKG2 PRR12 PSMB8 PSMC3 PSMD12 PTCH1 PUF60 RAB18 RAB3GAP1 RAC1 RAD21 RAI1 RNF125 RPS23 RUSC2 SCN4A SETBP1 SETD5 SGSH SLC1A4 SLC25A24 SLC29A3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMPD4 SMS SNAI2 SNX14 SOX10 SOX11 SOX4 SPATA5 SPEN SPOP SPTBN1 SRCAP SRD5A3 STAG1 SUZ12 TAF1 TAF6 TALDO1 TASP1 TBCD TBCK TERT TFE3 TLK2 TMCO1 TMEM147 TMEM94 TOE1 TP53 TRAIP TRAPPC10 TRAPPC9 TRIM8 TRIO TRMT1 TRMT10A TTI2 TUBGCP2 TWIST2 UBE2A UBR7 UFC1 UGDH UGP2 UQCC2 UROD UROS USP9X VPS33A VPS37A WAC WARS1 WBP11 WNT4 XYLT1 ZBTB20 ZIC2 ZMYND11 ZNF292 ZNF407 ZNF699 ZNF711 ZNRF3 HP_HYPERTRIGLYCERIDEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRIGLYCERIDEMIA ABCA1 ABHD5 ADCY3 AEBP1 AGL AGPAT2 AKT2 ALMS1 APOA5 APOB APOC2 APOE BSCL2 CAV1 CAVIN1 CELA2A CEP19 CIDEC CREB3L3 CYP7A1 DEAF1 DEF6 DYRK1B EMD FARSA FECH FHL1 FLII FOS GK GPD1 GPIHBP1 HAVCR2 IQSEC2 JAG1 LCAT LDLRAP1 LEP LEPR LIPA LIPC LIPE LMF1 LMNA LPL LRP6 LYST MC4R MCM10 MTX2 NSMCE2 PHKA2 PHKB PHKG2 PIGH PIGT PIK3CG PLIN1 PLVAP PNPLA2 POLD1 POLR3A PPARG PRF1 PSMB10 PSMB4 PSMB8 PSMB9 PYGL RAI1 RSPO1 SAR1B SGPL1 SLC25A13 SLC29A3 SLC2A2 SLC37A4 SLC7A7 SMPD1 STX11 STXBP2 SYNE1 SYNE2 TMEM43 TNFRSF9 TTPA UNC13D WRN XIAP XRCC4 YARS1 HP_HYPERTROPHIC_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_CARDIOMYOPATHY AARS2 ABCC8 ABCC9 ACAD9 ACADVL ACTC1 ACTN2 ADAR AGK AGPAT2 AIP ALPK3 ANKS6 ATAD3A ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATPAF1 ATPAF2 BAG3 BAZ1B BCL7B BCS1L BOLA3 BRAF BRCA1 BRCA2 BRIP1 BSCL2 BUD23 CAV1 CAV3 CAVIN1 CLIP2 CLN3 COA5 COA6 COA8 COQ2 COQ4 COX14 COX15 COX6B1 COX7B CPT1A CRLS1 CRYAB CSRP3 DES DHCR7 DLD DLK1 DNAJB4 DNAJC30 ECHS1 EIF4H ELAC2 ELN EMD ERCC4 FAH FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FASTKD2 FBXL4 FHL1 FHOD3 FKBP6 FLNC FNIP1 FOS FOXRED1 FTO FXN GAA GATA4 GLA GLB1 GNPTAB GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 HADH HADHA HCCS HGSNAT HLA-B HRAS HSD17B10 IFIH1 IL12B INSR JPH2 KCNJ11 KCNJ8 KIF20A KLF1 KLHL24 KRAS LAMP2 LIAS LIMK1 LMNA LRP12 LRPPRC LSM11 LZTR1 MAD2L2 MAP2K1 MAP2K2 MC2R MEG3 MEN1 METTL27 MICOS13 MIPEP MLX MLXIPL MRAP MRAS MRPL3 MRPL44 MRPS14 MRPS22 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOZ2 MYPN NAGA NAGLU NCF1 NDUFA1 NDUFA10 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NEXN NF1 NFS1 NNT NRAS NUBPL OPA1 PALB2 PLN PMM2 PPA2 PPARG PPP1CB PPP1R21 PRKAG2 PRUNE1 PTPN11 PYGL PYGM QRSL1 RAD51 RAD51C RAF1 RFC2 RFWD3 RIT1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RTL1 SAMHD1 SARDH SCO2 SDHA SDHAF1 SDHB SDHD SGSH SHMT2 SHOC2 SLC22A5 SLC25A3 SLC25A4 SLC2A10 SLC30A10 SLX4 SMC1A SOS1 SPRED2 STAR STX1A SUCLG1 SUFU SURF1 SYNE1 SYNE2 TAFAZZIN TANGO2 TAPT1 TBL2 TCAP TGFB1 TIMMDC1 TKFC TMEM126A TMEM126B TMEM270 TMEM43 TMEM70 TNNC1 TNNI3 TNNT2 TPI1 TPM1 TREX1 TRMT5 TSFM TTN TTPA TTR TULP3 TXNRD2 UBE2T UBE3C UCP2 UQCRFS1 VARS2 VCL VPS33A VPS37D XRCC2 YARS2 HP_HYPERTROPHIC_NERVE_CHANGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_NERVE_CHANGES EGR2 GDAP1 LITAF MPZ PMP22 PRX HP_HYPERURICEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICEMIA ACAT1 ALDOB ALMS1 CLDN16 FBP1 G6PC1 HMGCL HNF1B HPRT1 LMAN1 MCFD2 MUC1 MYC PFKM PHKA2 PHKB PPARG PRPS1 PYGL PYGM REN SARS2 SEC61A1 SH2B1 SLC37A4 TNFRSF11A TNFRSF11B UMOD HP_HYPERURICOSURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICOSURIA ALDOB EHHADH GATM HPRT1 NDUFAF6 PRPS1 SLC22A12 SLC2A9 SLC34A1 HP_HYPERVENTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERVENTILATION ARL13B BTD CABP4 CACNA1H CAMK2B CASK CDKL5 CHRNA2 CHRNA4 CHRNB2 CIZ1 CNTNAP2 CPLANE1 CRH DEPDC5 FBP1 GABBR2 GABRA1 GABRB3 GABRG2 HLCS JRK KCNT1 MECP2 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NRXN1 SLC2A1 SYT1 TCF4 TLK2 UQCRFS1 HP_HYPOAMYLASEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAMYLASEMIA CNOT1 DNAJC21 EFL1 SBDS SRP54 HP_HYPOARGININEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOARGININEMIA ALDH18A1 ASL ASS1 ATP5F1A CA5A CPS1 PNPO HP_HYPOAUTOFLUORESCENT_RETINAL_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAUTOFLUORESCENT_RETINAL_LESION CFH CFI CWC27 EFEMP1 KIZ RPGR TLCD3B HP_HYPOCALCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIA ACADVL ADAMTS3 ALG12 AP1S3 ARVCF BTK CA2 CACNA1C CAMKMT CASR CAV1 CCBE1 CHD7 CLCN7 CLCNKB COMT CSF1R CTNS CYP27B1 CYP2R1 CYP3A4 DGCR2 DGCR6 DGCR8 DMP1 ENPP1 ESS2 FAM111A FARSB FAT4 FGF23 FOCAD FOXP3 GATA3 GCM2 GEMIN4 GNA11 GNAS GNAS-AS1 GNB2 GP1BB HADHA HADHB HIRA HLA-DQA1 HLA-DQB1 IFT122 IL36RN JMJD1C LPIN1 MT-CO1 MT-CO3 OBSCN ORAI1 OSTM1 PIK3C2A PLEKHM1 PLVAP PPM1B PREPL PTH RFX7 RMRP RRAGD RREB1 RYR1 SEC24C SLC12A3 SLC3A1 SLC4A1 SNX10 STX16 TBCE TBX1 TCIRG1 TNFRSF11A TNFSF11 TRPM6 UBR1 UFD1 USP53 VDR HP_HYPOCALCEMIC_SEIZURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_SEIZURES CYP27B1 CYP2R1 FAM111A GATA3 GCM2 GNAS PTH STX16 TBCE TNFRSF11A VDR HP_HYPOCALCEMIC_TETANY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_TETANY CTNS DMP1 ENPP1 FAM111A GNAS STX16 TBCE HP_HYPOCALCIURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCIURIA AP2S1 CASR CLCNKB CLDN10 FAM20A FXYD2 GNA11 KCNJ10 PHEX SLC12A3 HP_HYPOCHLOREMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHLOREMIA BSND CLCNKA CLCNKB KCNJ1 MAGED2 SLC12A1 SLC26A3 HP_HYPOCHOLESTEROLEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHOLESTEROLEMIA ABCA1 ALG12 APOB ATAD3A DHCR7 FDFT1 FLCN HSD3B7 MSMO1 MTTP PEX12 PMM2 PNLIP PSAP SAR1B UBE3B HP_HYPOCHROMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIA GLRX5 HBB RHAG RHCE RHD SLC11A2 SLC25A38 STEAP3 UMPS HP_HYPOCHROMIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_ANEMIA ABCB7 ABCD3 ALAS2 ALG2 APC ATRX BCL11A C2orf69 CARD10 CASP10 CD55 CLCNKB CLPX COL2A1 COL7A1 CP DAXX DIAPH1 DNAJC19 EIF2AK3 ELF4 ELMO2 FAS FASLG FGF23 FN1 FOXP3 GALNT2 GATA1 HBA1 HBA2 HBB HBG1 HBG2 HLA-DQA1 HLA-DQB1 HSCB IREB2 IRX5 KARS1 KCNE1 KCNQ1 KLF1 LPIN2 MMP1 NAA10 OSTM1 PLA2G4A PUS1 SF3B1 SHPK SLC12A3 STK11 TAFAZZIN TET2 TF TGFB1 TMPRSS6 TRNT1 WAS ZNF699 HP_HYPOCHROMIC_MICROCYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA ABCB7 ALAS2 ATRX BCL11A C2orf69 CARD10 CP DNAJC19 HBA1 HBA2 HBB HBG1 HBG2 HSCB KARS1 KLF1 LPIN2 OSTM1 SHPK TAFAZZIN TMPRSS6 TRNT1 HP_HYPODONTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPODONTIA AARS1 ACOX1 ACTL6B ADAMTS2 AP3B2 APC APC2 ARL6 ARV1 ATP1A2 ATP1A3 ATP6V1A ATP6V1B2 BAZ1B BBS1 BCL11B BCL7B BUD23 CACNA1A CACNA1B CACNA2D1 CCDC28B CDH1 CDK19 CELF2 CEP152 CEP85L CFAP418 CHSY1 CKAP2L CLDN1 CLIP2 CLTC CNKSR2 CPLX1 CREBBP CTBP1 CTC1 CTSK CYFIP2 DALRD3 DDX59 DHDDS DKC1 DNAJC21 DNAJC30 DNM1 DVL1 DVL3 DYNC2LI1 EDA EDAR EDARADD EEF1A2 EIF4H ELN EP300 EVC EVC2 FBXO28 FGD1 FGF10 FGF12 FGF13 FGF3 FGFR2 FGFR3 FGFRL1 FKBP6 FLNB FOXC1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GDF5 GLI1 GRHL2 GRHL3 GRIN2D GTF2I GTF2IRD1 GTF2IRD2 HCN1 HECTD4 HMGA2 HSPA9 IFT122 IFT43 IFT52 IKBKG IRF6 IRX5 KCNA2 KCNB1 KCNH1 KCNMA1 KCNN3 KDF1 KDM6A KIF1C KMT2A KMT2D LAMB3 LEMD2 LEMD3 LETM1 LIMK1 LMNA LRP4 MAPK8IP3 MBTPS2 METTL27 MID1 MLXIPL MSX1 MTX2 NCF1 NECAP1 NECTIN1 NELFA NFKBIA NHP2 NKX2-1 NOP10 NPM1 NSD1 NSD2 NTRK2 NUS1 NXN OFD1 OTUD5 PACS2 PARN PARS2 PERP PIGG PIGL PIK3R1 PITX2 POLR1C POLR3A POLR3B POLR3K POP1 PORCN PPP2R3C PPP3CA PRKACA PRKACB PRKAR1A PTH1R PUS7 RBM28 RFC2 RMRP RNF13 ROR2 RPS6KA3 RTEL1 SCN3A SCN8A SCNM1 SCUBE3 SETD2 SLC13A5 SLC1A2 SLC38A3 SLC39A13 SMARCAL1 SMG8 STX1A SYNGAP1 SYNJ1 SZT2 TBL2 TBX3 TERC TERT TINF2 TMEM270 TP63 TRAF6 TRAK1 TRIM37 TRPV3 TSPEAR TWIST2 TYMS UBA5 UBE3C USB1 VPS37D WDR19 WDR35 WNT10A WNT5A WRAP53 WWOX XYLT1 YWHAG ZMPSTE24 HP_HYPOESTHESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOESTHESIA ATL3 ATP7B COQ6 FGD4 KIF1A LITAF LZTR1 MYORG NF2 PMP22 POLG PRDM12 PRORP SERPING1 SMARCB1 TWNK TYMP HP_HYPOGLYCEMIC_COMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_COMA ABCC8 AKT2 ETFA ETFB ETFDH GCK GLUD1 HADH HMGCL HMGCS2 HNF1A INSR KCNJ11 MC2R MRAP NFKB2 NNT STAR TXNRD2 UCP2 HP_HYPOGLYCEMIC_SEIZURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_SEIZURES ABCC8 AKT2 GCK GLUD1 HADH HNF1A INSR KCNJ11 MC2R MRAP NNT PCSK1 POGZ POMC PROP1 SLC16A1 SLC25A36 SLC37A4 STAR TANGO2 TBX19 TXNRD2 UCP2 HP_HYPOGLYCORRHACHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCORRHACHIA SLC2A1 TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_HYPOGONADISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADISM ABCA4 ABCD1 AGBL5 AHI1 AHR AHSG AIP AIRE AKT1 ALG1 ALMS1 ALX4 AMACR ANAPC1 ANK1 ANOS1 ANTXR1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARSL ATM ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATRX AXL BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCS1L BEST1 BMP15 BMP2 BMP4 BMP6 BMPR1B BRAF BRCA1 BRCA2 BRCC3 BRIP1 BUD23 CA4 CAMKMT CASZ1 CBL CBX2 CC2D2A CCDC141 CCDC28B CDH23 CDHR1 CDKN1C CEP19 CEP290 CERKL CFAP418 CHD4 CHD7 CHRNG CISD2 CLIP2 CLPP CLRN1 CNBP CNGA1 CNGB1 COL25A1 COQ2 CPE CRB1 CRX CTDP1 CTNNB1 CTNS CUL4B CYB5A CYP17A1 CYP19A1 DCAF17 DCC DDB2 DHDDS DHH DHX37 DHX38 DMPK DMRT1 DMRT3 DMXL2 DNAJC30 DNAL4 DNM1L DUSP6 EIF2S3 EIF4H ELN ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FEZF1 FGF17 FGF8 FGFR1 FKBP6 FLRT3 FMR1 FOXA2 FOXL2 FSCN2 FSHB GABRD GALK1 GALT GATA4 GJB2 GLI2 GNAS GNRH1 GNRHR GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B HAMP HBB HDAC8 HERC2 HESX1 HFE HGSNAT HJV HS6ST1 HSD17B3 HSPG2 IDH3A IDH3B IER3IP1 IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IL17RD IMPDH1 IMPG1 IMPG2 INPP5K ITGB6 KCNAB2 KIAA1549 KIF21A KISS1 KISS1R KIZ KLHL7 KRAS LAS1L LEP LEPR LGR4 LHB LHCGR LHX3 LHX4 LIG3 LIMK1 LMNA LRAT LSS LUZP1 LZTFL1 LZTR1 MAD2L2 MAGEL2 MAK MAP2K1 MAP3K1 MDM2 MECP2 MEN1 MERTK METTL27 MGME1 MKKS MKRN3 MKS1 MLXIPL MMP23B MRAS MRE11 MRPS7 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYH3 NCF1 NDN NDNF NECTIN1 NEK2 NF2 NHLH2 NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRAS NRL NSMF NTN1 NUP107 OCA2 OFD1 OPA1 OTX2 PALB2 PCARE PCSK1 PDE4D PDE6A PDE6B PDE6G PDGFB PDPN PEX1 PEX6 PHF6 PHGDH PHOX2A PIK3CA PLXND1 PMM2 PNPLA6 POLA1 POLD1 POLE POLG POLR1C POLR3A POLR3B POLR3K POMGNT1 POU1F1 PPM1B PRCD PRDM13 PRDM16 PREPL PRKAR1A PRKCZ PRLR PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTCH1 PTCH2 PTDSS1 PTPN11 PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RAF1 RASA2 RBM28 RBP3 RDH12 RECQL4 REEP6 RERE REV3L RFC2 RFWD3 RGR RHO RIN2 RIT1 RLBP1 RNF216 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRAS RRAS2 RRM2B SAG SAMD9 SCAPER SCLT1 SCP2 SDCCAG8 SEMA3A SEMA3E SEMA4A SGPL1 SIL1 SIM1 SIX6 SKI SLC29A3 SLC39A4 SLC3A1 SLC7A14 SLX4 SMAD4 SMARCB1 SMARCE1 SMCHD1 SMO SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPATA7 SPEN SPRED2 SPRTN SPRY4 SQSTM1 SRA1 SRY STEAP3 STS STUB1 STX1A SUFU TAC3 TACR3 TBL2 TCF12 TERT TFR2 TGFB1 TMEM270 TOPORS TP53 TP63 TRAF3IP1 TRAF7 TRIM32 TTC8 TUB TUBA1A TUBB2B TUBB3 TULP1 TWNK TYMP UBE2T UBE4B USH2A USP7 VAMP7 VPS37D VPS4A WDPCP WDR11 WFS1 WRN WT1 WWOX XPA XPC XRCC2 ZBTB20 ZFPM2 ZMPSTE24 ZNF408 ZNF513 HP_HYPOGONADOTROPIC_HYPOGONADISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADOTROPIC_HYPOGONADISM AIP AKT1 ANK1 ANOS1 AXL BAP1 BAZ1B BCL7B BMP2 BMP6 BRAF BUD23 CBL CBX2 CCDC141 CDH23 CHD4 CHD7 CLIP2 COL25A1 CPE CTDP1 CTNNB1 DCAF17 DCC DHH DHX37 DMRT1 DMXL2 DNAJC30 DNAL4 DUSP6 EIF4H ELN FEZF1 FGF17 FGF8 FGFR1 FKBP6 FLRT3 FOXA2 FSHB GJB2 GLI2 GNRH1 GNRHR GPR101 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HERC2 HESX1 HFE HJV HS6ST1 HSD17B3 IL17RD KIF21A KISS1 KISS1R KRAS LAS1L LGR4 LHB LHX3 LHX4 LIG3 LIMK1 LZTR1 MAGEL2 MAP3K1 MEN1 METTL27 MKRN3 MLXIPL MRAS MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NCF1 NDN NDNF NF2 NHLH2 NPAP1 NR0B1 NR5A1 NRAS NSMF NTN1 OCA2 OTX2 PCSK1 PDGFB PHOX2A PIK3CA PLXND1 PMM2 PNPLA6 POLA1 POLG POLR3A POLR3B POLR3K POU1F1 PRDM13 PROK2 PROKR2 PROP1 PTCH1 PTCH2 PTPN11 PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAD51 RAF1 RASA2 RBM28 REV3L RFC2 RIT1 RNF216 RNU4ATAC RRAS RRAS2 RRM2B SEMA3A SEMA3E SIM1 SIX6 SMARCB1 SMARCE1 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPRED2 SPRY4 SRA1 SRY STX1A SUFU TAC3 TACR3 TBL2 TCF12 TERT TFR2 TMEM270 TP63 TRAF7 TUBA1A TUBB2B TUBB3 TYMP VPS37D WDR11 WT1 HP_HYPOHIDROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOHIDROSIS ABCA12 ADAT3 ALOX12B ALOXE3 ALX4 ARNT2 ARX CASK CERS3 CLCF1 CLDN10 COG6 COL11A1 COQ2 CRLF1 CST6 CSTB CTNS EDA EDA2R EDAR EDARADD ELOVL4 ELP1 ERCC4 ERCC6 ERCC8 FAM111B FGFR1 FLG GHR GJB2 GJB6 GLA GMPPA HESX1 HEXB IKBKG IL6ST KCTD1 KDF1 KRT14 LIFR LMNB1 MADD MBTPS2 NECTIN1 NFKBIA NIPAL4 OTX2 PKP1 PNPLA1 POLA1 PRDM12 PROKR2 RIPK4 ROGDI SCN9A SDR9C7 SHANK3 SLC13A5 SMARCAD1 SOX10 SOX2 SOX3 ST14 STIM1 STS SULT2B1 TGM1 TP63 TRAF6 TRIP4 TSPEAR WNT10A ZFHX2 HP_HYPOINSULINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINSULINEMIA ABCC8 AKT2 APPL1 BLK CEL DMXL2 GCK HNF1A HNF4A HYMAI INS KCNJ11 KLF11 NAB2 NEUROD1 PAX4 PCSK1 PDX1 PLAGL1 RNF125 STAT6 ZFP57 HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI ADORA2A ADSL FDXR GALC GFM2 KARS1 LAMA2 POLG PSAP SAMHD1 TREX1 TYMP UBE2A ZEB2 HP_HYPOKALEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIA AIP AKAP9 ANK2 ATP1A1 ATP6V0A4 BMPR1A BSND CACNA1C CACNA1D CACNA1S CALM1 CALM2 CALM3 CASR CAV3 CDH23 CDKN2A CLCN2 CLCNKA CLCNKB CLDN10 COL3A1 CTNNB1 CTNS CYP11B1 CYP11B2 CYP17A1 DEF6 EHHADH FXYD2 GABRA3 GATM GEMIN4 HSD11B2 INSR KCNE1 KCNE2 KCNE3 KCNH2 KCNJ1 KCNJ10 KCNJ18 KCNJ2 KCNJ5 KCNQ1 MAGED2 NDUFAF6 NOS1AP NR3C1 NUP214 OCRL PKD2 PRKAR1A RRAGD SCN10A SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SERPINA6 SLC12A1 SLC12A3 SLC26A3 SLC2A2 SLC34A1 SLC4A1 SLC4A4 SMAD4 SNTA1 TBX5 TERT TP53 TRDN UNC45A USP8 ZNRF3 HP_HYPOKALEMIC_ALKALOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_ALKALOSIS BSND CLCNKA CLCNKB CYP17A1 HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 SCNN1B SLC12A1 SLC12A3 HP_HYPOKALEMIC_METABOLIC_ALKALOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS BSND CLCNKA CLCNKB HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 SLC12A1 HP_HYPOKETOTIC_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKETOTIC_HYPOGLYCEMIA ABCC8 ACADVL AKT2 CPT1A CPT2 DOLK GCK HADH HADHA HADHB HNF1A HNF4A KCNJ11 SLC25A20 UCP2 HP_HYPOKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKINESIA ACTA1 AIFM1 ALG11 ATP13A2 ATP7B CFL2 CLTC DOK7 DPM2 FRRS1L GBA1 GFM1 GLRA1 GPHN HTT KIF21A KLHL40 KLHL41 LAMA2 LAMP2 LGI3 LMOD3 MPZ MRPS16 MTM1 MUSK MYOD1 NEB NUP88 PAM16 PDE8B PET117 POLG POLG2 PPP2R2B PRNP RAPSN RRM2B SLC18A3 SLC25A4 SLC2A3 SLC39A14 SLC52A2 SLC6A3 SNCA TH TPM2 TPM3 TSPOAP1 TUBA1A TWNK WWOX HP_HYPOLIPIDEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPIDEMIA ACOX2 ANGPTL3 APOC3 CCT5 CETP GALNT2 MTTP NGLY1 PCYT1A SAR1B HP_HYPOLIPOPROTEINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPOPROTEINEMIA ABCA1 ALG6 ALMS1 ANGPTL3 APOA1 APOA5 APOB APOC3 APOE B4GALT1 CELA2A CEP19 CREB3L3 FDFT1 GALNT2 GPIHBP1 LCAT LDLRAP1 LIPA LMNA MSMO1 MTTP NGLY1 PANK2 PPARG PSMB8 SAR1B SLC25A13 SLC7A7 SMPD1 HP_HYPOMELANOTIC_MACULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMELANOTIC_MACULE DNAJC21 IFNG KRT14 KRT5 POFUT1 SASH1 TSC1 TSC2 HP_HYPOMETHIONINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETHIONINEMIA ABCD4 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR PRDX1 HP_HYPOMETRIC_SACCADES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETRIC_SACCADES APTX CACNA1G COQ5 DNAJC6 GBA1 GRM1 MAPT MME MRE11 MYORG NKX6-2 NPHP1 PLA2G6 SLC1A3 SPTBN2 TUBB4A HP_HYPOMIMIC_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMIMIC_FACE ATP13A2 ATP1A3 ATP6AP2 CC2D1A CLTC CNTNAP1 DDHD2 DNAJC13 DNAJC6 EIF4G1 FBXO7 FTL GBA1 GIGYF2 JAM2 KCNK9 LRRK2 MYMX OGDHL PLA2G6 PLAA PODXL POLG POLG2 PRDX3 RRM2B SLC18A2 SLC25A4 SLC30A10 SLC39A14 SLC6A3 SNCA SPR SYNJ1 TECPR2 TWNK TXNL4A VPS35 HP_HYPOPARATHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPARATHYROIDISM AIRE ARVCF ATP7B CHD7 COL4A5 COMT DGCR2 DGCR6 DGCR8 ESS2 FAM111A GATA3 GCM2 GP1BB HADHA HADHB HBB HIRA IRX5 JMJD1C LIG4 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NKX2-1 NSUN2 PIGT PTH PTH1R RREB1 SEC24C TBCE TBX1 TBX2 UFD1 HP_HYPOPHOSPHATEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIA ABCC6 ALDOB AP2S1 CACNA1S CASR CDC73 CLCN5 CLCN7 COL4A3 CTNS CYP27B1 CYP2R1 CYP3A4 DMP1 EHHADH ENPP1 FAH FAM111A FAM20C FGF23 GABRA3 GATM GCM2 GNAS HNF4A HRAS INPPL1 KCNJ18 KRAS MEN1 NAB2 NDUFAF6 NHERF1 NRAS OCRL PHEX POLRMT PTH1R SLC2A2 SLC34A1 SLC34A3 SNX10 STAT6 TCIRG1 TNFSF11 VDR HP_HYPOPHOSPHATEMIC_RICKETS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIC_RICKETS ABCC6 CLCN5 CTNS DMP1 EHHADH ENPP1 FAH FGF23 GATM HNF4A HRAS KRAS NAB2 NDUFAF6 NRAS PHEX POLRMT SLC34A1 SLC34A3 STAT6 HP_HYPOPIGMENTATION_OF_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_HAIR ABCA2 ACD AP3B1 AP3D1 ATM ATP10A ATP7A BLOC1S3 BLOC1S5 CACNA1F CHN1 CLCN7 CTC1 CTNS DCT DHCR7 DKC1 DPP9 DSTYK DTNBP1 EDN3 EDNRB EPG5 FAS FGFR3 GJB6 GNPTAB HERC2 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS IFT140 KANSL1 KIT KITLG KRT25 KRT71 KRT74 LAMTOR2 LIPH LMNA LPAR6 LRMDA LRPPRC LYST MAFB MAGEL2 MC1R MITF MKRN3 MLPH MOGS MYO5A NDN NHP2 NOP10 NPAP1 NPM1 OCA2 PADI3 PAH PARN PAX3 PDE4D PEPD PIGN PTPN22 PWAR1 PWRN1 RAB27A RMRP RTEL1 SALL4 SIM1 SKIC2 SKIC3 SLC17A5 SLC24A5 SLC45A2 SNAI2 SNORD115-1 SNORD116-1 SNRPN SOX10 TAFAZZIN TERC TERT TFAP2A TGM3 TINF2 TMCO1 TP63 TYMS TYR TYRP1 UBE3A UBR1 USB1 WDR45 WRAP53 WRN ZNF699 HP_HYPOPIGMENTATION_OF_THE_FUNDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_FUNDUS BLOC1S6 CACNA1F CHM COL4A1 EDNRB EPG5 GGCX GPR143 GUCA1A GUCY2D IFNG KIF7 LAMB2 MC1R MITF MTTP OCA2 PAX3 PRPH2 SLC25A15 SLC45A2 SOX10 TSC1 TSC2 TYR HP_HYPOPIGMENTATION_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_SKIN ABCB6 ABCC9 ACP5 ADAR AIRE AKT1 ALG3 ANAPC1 ANTXR1 AP3B1 AP3D1 APC2 APOE ARVCF ATP10A ATP7A BLM BLOC1S3 BLOC1S5 BLOC1S6 BRCA1 BRCA2 BRIP1 BTK BTNL2 CACNA1F CAV1 CBS CCN2 CCR6 CD28 CHN1 CIB1 CLCN7 CLTRN COL25A1 COMT COX7B CRIPT CTC1 CTLA4 CTNS CTSC DCPS DCT DDB2 DKC1 DNAJC21 DPP9 DTNBP1 EBP EDN3 EDNRB EPG5 ERCC2 ERCC3 ERCC4 ERCC5 ERF FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FERMT1 FGFR2 FGFR3 GALC GATA1 GNPTAB GP1BB HCCS HERC2 HIRA HLA-DRB1 HPS1 HPS3 HPS4 HPS5 HPS6 HRAS IFNG IKBKG IL7 IRF5 JMJD1C KANSL1 KIAA0319L KIT KITLG KLHL24 KLLN KRAS KRT14 KRT5 LAMTOR2 LIPE LMNA LRMDA LYST MAD2L2 MAFB MAGEL2 MC1R MITF MKRN3 MLH1 MLPH MTOR MYO5A NDN NDUFB11 NHP2 NOP10 NPAP1 NPM1 NRAS NSD1 OCA2 OCRL PAH PALB2 PARN PAX3 PCNT PCSK1 PIGN PIK3CA POFUT1 POGLUT1 POLH POMC PORCN PPOX PSAP PSENEN PTEN PTPN22 PWAR1 PWRN1 RAB27A RAD51 RAD51C RECQL4 RFWD3 RREB1 RTEL1 SALL4 SASH1 SDHB SDHC SDHD SEC23B SEC24C SETD2 SIM1 SKIC2 SKIC3 SLC17A5 SLC24A5 SLC35A2 SLC45A2 SLC6A19 SLX4 SMO SMS SNAI2 SNORD115-1 SNORD116-1 SNRPN SOX10 SPTBN1 TBX1 TCF4 TERC TERT TFE3 TINF2 TMC6 TMC8 TNFRSF1B TOE1 TP63 TSC1 TSC2 TWIST2 TYMS TYR TYRP1 UBE2A UBE2T UBE3A UFD1 UROD UROS USB1 USF3 WDR11 WDR45 WDR73 WRAP53 XPA XPC XRCC2 ZFHX4 ZNF699 ZPR1 HP_HYPOPIGMENTED_MACULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_MACULE ABCB6 ANKLE2 CDKN1A CDKN1B CDKN2B CDKN2C DNAJC21 ENPP1 EPHB4 FANCC GPNMB IFNG KRT14 KRT5 MEN1 NF1 NONO PLEC POFUT1 POGLUT1 PSENEN RASA1 SASH1 SPECC1L TSC1 TSC2 HP_HYPOPIGMENTED_SKIN_PATCHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_SKIN_PATCHES ABCB6 ABCC9 ACP5 AIRE AKT1 ANTXR1 ARVCF BLM BRCA1 BRCA2 BRIP1 BTK CAV1 CCN2 CCR6 CD28 CHN1 CIB1 CLTRN COMT COX7B CRIPT CTC1 CTLA4 CTSC DDB2 DKC1 EBP EDN3 EDNRB ERCC2 ERCC3 ERCC4 ERCC5 ERF FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FERMT1 FGFR2 FGFR3 GALC GP1BB HCCS HIRA HLA-DRB1 IKBKG IL7 IRF5 JMJD1C KIAA0319L KIT KITLG KLLN KRT14 KRT5 MAD2L2 MAFB MC1R MITF MTOR NDUFB11 NHP2 NOP10 NPM1 NRAS PALB2 PARN PAX3 PCNT PIK3CA PSAP PTEN PTPN22 RAD51 RAD51C RFWD3 RREB1 RTEL1 SALL4 SDHB SDHC SDHD SEC23B SEC24C SLC6A19 SLX4 SMO SNAI2 SOX10 TBX1 TCF4 TERC TERT TINF2 TMC6 TMC8 TNFRSF1B TWIST2 TYMS TYR UBE2A UBE2T UFD1 USB1 USF3 WRAP53 XPA XPC XRCC2 HP_HYPOPITUITARISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPITUITARISM AAAS ACP5 ADAT3 ADNP AFF4 AIP AKT1 ALMS1 ALX3 ANOS1 APOA5 ARNT2 B3GLCT BAP1 BMP4 BPTF BRAF BRCC3 BTK CCDC141 CDH23 CDKN1C CDKN2A CDON CEP57 CHD7 CTNNB1 CTSK DBH DCAF17 DCC DISP1 DLL1 DNAJC21 DUSP6 DYRK1A EDA EDA2R EFL1 EIF2S3 ESCO2 FANCF FANCI FARSA FEZF1 FGF17 FGF8 FGFR1 FLNB FLRT3 FOXA2 FOXH1 FSHB GAS1 GCNA GH1 GHRHR GHSR GLI2 GLI3 GMNN GMPPA GNAS GNB2 GPR101 GRB10 GRM7 HBB HERC2 HESX1 HID1 HS6ST1 IARS2 IGF2 IGSF1 IKBKG IL17RD KANSL1 KATNIP KIAA0753 KMT2A LEP LEPR LHX3 LHX4 MADD MAGEL2 MAP2K2 MEN1 MKRN3 MPDU1 MT-ATP8 MT-TL1 NDN NDNF NF2 NFKB2 NFKBIA NKX2-1 NODAL NPAP1 OCA2 OTX2 PCSK1 PDGFB PIK3CA PITX2 PLCH1 PNPLA6 POLE POLR3A POLR3GL POMC POU1F1 POU3F4 PREPL PRKAR1A PROK2 PROKR2 PROP1 PSMD12 PTCH1 PUS1 PWAR1 PWRN1 RBM28 RFWD3 RNF113A RNPC3 RRAS2 RRM2B SBDS SEMA3A SEMA3E SHH SIN3A SIX3 SLC29A3 SLC7A7 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOX10 SOX11 SOX3 SPRY4 SRD5A3 SRP54 STAG2 STAT5B STIL STX16 SUFU TACR3 TAF4B TBCE TBCK TBX19 TBX2 TDGF1 TERT TGIF1 THOC2 TMCO1 TMEM67 TP53 TP63 TRAF7 TRAPPC11 TRHR TSHB VPS13B WASHC5 WDR11 WDR4 YY1 ZIC2 ZMYND15 ZNF148 ZNRF3 ZSWIM6 HP_HYPOPLASIA_OF_OLFACTORY_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_OLFACTORY_TRACT CPLANE1 FAM149B1 KIAA0753 KIF7 OFD1 PDE6D SOX9 TCTN3 TMEM216 TOPORS HP_HYPOPLASIA_OF_PENIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_PENIS ABCA4 ACTA1 ACTB ADAR ADAT3 AGBL5 AHI1 AHR ALG12 ALKBH8 ALMS1 ALX4 ANK1 ANOS1 AR ARCN1 ARHGEF18 ARL2BP ARL3 ARL6 ARNT2 ARX ATAD3A ATP6V1A ATP6V1E1 ATRX AXL B3GALNT2 B4GAT1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BEST1 BLTP1 BRD4 BUB1B BUD23 C2CD3 CA4 CAMK2A CASK CASZ1 CC2D2A CCDC141 CCDC22 CCDC28B CDC42BPB CDC45 CDC6 CDH11 CDH2 CDHR1 CDKL5 CDKN1C CDON CDT1 CENPT CEP19 CEP290 CEP41 CERKL CFAP418 CHD4 CHD7 CHRNG CILK1 CLIP2 CLRN1 CNGA1 CNGB1 COG5 COL4A1 COLEC10 COX7B CPE CRB1 CRPPA CRX CTU2 CUL4B CYB5A CYP17A1 DACT1 DAG1 DCAF17 DCC DCX DDX6 DHCR7 DHDDS DHODH DHX37 DHX38 DIS3L2 DISP1 DLL1 DMRT3 DMXL2 DNAJC19 DNAJC30 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBF3 ECE1 EED EHMT1 EIF2S3 EIF4H ELN ERCC2 ERCC6 ERCC8 EXT2 EYS EZH2 FAM111A FAM161A FANCB FANCD2 FANCF FANCL FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FKBP6 FKRP FKTN FLRT3 FOXH1 FRAS1 FREM2 FSCN2 FZD2 GABRD GAS1 GATA4 GH1 GHR GLI2 GLI3 GLYCTK GMNN GMPPB GNAO1 GNB2 GNRH1 GNRHR GPC3 GPC4 GPR161 GRIA3 GRIN1 GRIP1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C9 HCCS HDAC8 HERC1 HERC2 HESX1 HGSNAT HID1 HMGA2 HNRNPR HOXA13 HOXD13 HS6ST1 HSD3B2 HSPG2 HUWE1 IDH3A IDH3B IFIH1 IFT140 IFT172 IFT27 IFT74 IFT80 IFT88 IGF2 IL17RD IMPDH1 IMPG1 IMPG2 INPP5E INTU ISL1 KAT6B KATNIP KCNA1 KCNAB2 KDM5C KDM6A KIAA0586 KIAA0753 KIAA1549 KIF7 KISS1 KISS1R KIZ KLF1 KLHL15 KLHL40 KLHL41 KLHL7 KMT2D LAMA5 LARGE1 LEP LHB LHX4 LIG4 LIMK1 LMNB2 LMOD3 LMX1B LRAT LSM11 LSS LUZP1 LZTFL1 MADD MAGEL2 MAK MAMLD1 MAP3K1 MBD5 MCTP2 MED12 MEGF8 MERTK METTL27 MID1 MINPP1 MKKS MKRN3 MKS1 MLXIPL MMP23B MNX1 MTM1 MYH3 MYRF NCF1 NDNF NDUFB11 NEB NEK1 NEK2 NEUROD2 NHLH2 NIPBL NODAL NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRL NSD1 NSMF NXN OFD1 OPHN1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAFAH1B1 PBX1 PCARE PDE6A PDE6B PDE6G PDPN PHF21A PHF6 PIEZO2 PIGA PIGP PIGQ PLAG1 PNKP PNPLA6 POLE POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PPP1R12A PRCD PRDM13 PRDM16 PRKCZ PRKDC PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PSMC1 PSMD12 PTCH1 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RBP3 RDH12 REEP6 RERE RFC2 RGR RHO RIPK4 RLBP1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU4ATAC RNU7-1 ROBO1 ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RSPO2 RTTN RXYLT1 RYR1 SAG SALL1 SAMD9 SAMHD1 SATB2 SC5D SCAPER SCLT1 SCN1B SCN2A SDCCAG8 SEMA3A SEMA3E SEMA4A SETBP1 SGPL1 SHH SIK1 SIM1 SIN3A SIX3 SIX6 SKI SLC25A22 SLC25A24 SLC29A3 SLC32A1 SLC7A14 SMC1A SMC3 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRNP200 SOX10 SOX2 SOX3 SOX9 SPATA7 SPEN SPRY4 SPTBN1 SRA1 SRD5A2 SRY STT3A STT3B STX1A STXBP1 SUFU SUZ12 TAC3 TACR3 TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBX3 TCF12 TCF4 TCOF1 TDGF1 TGIF1 THOC2 THOC6 TMEM270 TOE1 TOGARAM1 TOPORS TP63 TREX1 TRIM32 TRIM8 TRPM3 TRRAP TSPYL1 TTC8 TUB TULP1 TWIST2 UBA1 UBE2A UBE4B UBR1 UBR7 USH2A USP7 VAC14 VAMP7 VPS35L VPS37D WASHC5 WDPCP WDR11 WDR35 WNT5A WNT7A WT1 WWOX XRCC4 YWHAE ZEB2 ZFPM2 ZIC2 ZNF408 ZNF513 ZPR1 HP_HYPOPLASIA_OF_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_TEETH AARS1 ACP4 AIRE ALDH3A2 AMBN AMELX ATR AXIN2 C12orf57 CARS1 CEP152 CHD3 CLDN1 COG6 COL17A1 COL7A1 CREBBP CSTB CTBP1 CTSK CYP27B1 CYP2R1 DDX59 DLX3 DNAJC21 EDA EDAR EDARADD ENPP1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 FAM20C FBXO28 FGF10 FGFR1 FGFR2 FGFR3 FLNA FLNB GALNT3 GJA1 GNAS GNB2 GRHL2 GTF2E2 GTF2H5 HECTD4 HLA-DQA1 HLA-DQB1 IFIH1 IFT122 IFT43 IRF6 IRX5 ITGA6 ITGB4 ITGB6 KCNJ2 KIF7 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMNA LMX1B LONP1 LRP4 LRP6 MED12 MMP1 MPLKIP MSX1 NECTIN4 NEK1 NF1 NUP133 OCRL ODAPH OFD1 PAK2 PAX9 PCGF2 PCNT PEX1 PGAP1 PIK3C2A PLEC PORCN PPP1R15B PTDSS1 RECQL4 RHOA RNF113A ROGDI RUNX2 SATB1 SCUBE3 SEC23A SLC10A7 SLC12A2 SLC35A2 SMARCA2 SMCHD1 SMOC2 SP6 STX16 SUMO1 TARS1 TGFA TP63 TRIM37 TRMT10A TTC7A UBR1 VDR WNT10A WNT10B ZMPSTE24 HP_HYPOPLASIA_OF_THE_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BLADDER ALG9 CCNQ GRIP1 MBTPS2 MED12 MKS1 ROBO1 WNT4 HP_HYPOPLASIA_OF_THE_BRAINSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BRAINSTEM ADCY5 ADGRG1 APC2 ASNS ASXL1 B3GALNT2 B4GAT1 BLTP1 BRF1 CASK CDC40 CEP55 CHMP1A CIT COASY COL3A1 CRPPA CSPP1 CTNNA2 DYNC1H1 DYNC1I2 DYRK1A EN1 EXOC2 EXOC7 FH FKRP FKTN FLVCR2 GMPPB INPP5E KIAA0586 KIFBP KPNA3 LAMB1 LARGE1 MACF1 MAST1 MED17 MFSD2A MINPP1 MTRR MYH3 MYMK NDE1 NFIX NSRP1 PAFAH1B1 PCLO PDHB PIEZO2 POMGNT1 POMK POMT1 POMT2 PPIL1 PPP1R15B PPP2CA PRDM13 PTCH1 PTEN PYCR2 RAB11B RAC1 RPGRIP1L SEPSECS SMPD4 TMEM216 TMEM237 TMEM67 TMTC3 TMX2 TOE1 TRMT10A TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 USP9X VLDLR WARS2 WDR73 HP_HYPOPLASIA_OF_THE_COCHLEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_COCHLEA DDX11 EYA1 FOXI1 FOXP2 KCNJ10 SIX1 SIX5 SLC26A4 HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM ACER3 ACO2 ACTL6B ADAR ADARB1 ADAT3 ADNP AHCY AHDC1 AIFM1 AIMP2 AKT3 ALDH6A1 ALDH7A1 ALG12 ALG2 ALG3 ALG8 ALX4 AMPD2 ANKRD11 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARFGEF2 ARHGAP31 ARID1B ARNT2 ARSI ARX ASNS ASPM ASXL1 ASXL3 ATL1 ATN1 ATP13A2 ATP6AP2 ATP6V1A ATP9A BCOR BICD2 BRAT1 BRF1 BUB1B C2CD3 CACNA1I CACNA2D1 CARS1 CARS2 CASK CCDC174 CCDC88A CDC42 CDK10 CDK13 CDKL5 CEP120 CEP290 CHMP1A CIT CLCN4 CLP1 CNOT1 CNOT3 CNP CNTNAP1 COASY COG2 COG4 COG6 COG7 COPB2 COX7B CRIPT CRPPA CSPP1 CTNNA2 CTNNB1 CTU2 CUL4B CYP2U1 DAG1 DARS1 DARS2 DCHS1 DCX DDHD2 DDX3X DDX6 DHCR7 DIAPH1 DMXL2 DOCK7 DPAGT1 DYNC1H1 DYNC1I2 DYRK1A EARS2 EBP EFNB1 EHMT1 EIF2AK2 EIF2S3 EMC1 EPRS1 ERLIN2 ERMARD EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC8 EXTL3 FA2H FANCB FANCD2 FAT4 FBXL4 FBXW11 FDFT1 FDXR FGFR1 FGFR3 FIG4 FKRP FKTN FLCN FLNA FOXG1 FRA10AC1 FRMPD4 GABRA5 GABRB1 GAD1 GBA1 GBA2 GFER GFM1 GFM2 GJC2 GLRX5 GLUL GLYCTK GMPPB GNAO1 GOT2 GPSM2 GPT2 GRIA3 GRIA4 GRIN1 GRIN2A GRM7 GTPBP2 HACE1 HIC1 HIVEP2 HK1 HNRNPK HNRNPR HPDL HS2ST1 HSD17B4 HTRA2 HUWE1 IBA57 IER3IP1 IFIH1 IFT140 IFT27 IFT52 IGF1R KANSL1 KAT8 KATNB1 KCNA1 KCNK4 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM5B KIAA0586 KIAA0753 KIDINS220 KIF14 KIF26A KIF2A KIF5A KIF5C KIF7 KIFBP KMT2C L1CAM LAMB1 LARGE1 LMNB1 LNPK LONP1 LSM11 LSS MACF1 MAF MAP1B MAPK8IP3 MAPKAPK5 MAPRE2 MBTPS2 MED12L MED25 MEF2C MFSD2A MID1 MINPP1 MOCS1 MOCS2 MOGS MRPS22 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFS MTOR MTRFR NADK2 NAE1 NALCN NANS NARS1 NARS2 NDE1 NDUFA2 NEDD4L NEUROD2 NEXMIF NF1 NFIA NFIX NHLRC2 NKX6-2 NMNAT1 NONO NOVA2 NR2F1 NRROS NT5C2 NUP188 OCA2 OGDHL OSGEP OTUD5 OTUD6B PAFAH1B1 PAH PARS2 PAX6 PCGF2 PCLO PCNT PDE6D PDHA1 PDHB PDHX PGAP1 PGAP2 PHGDH PIGA PIGB PIGG PIGN PIGP PIGQ PIGU PIK3R2 PITX1 PLAA PLPBP PNKP POGZ POLG2 POLR1C POLR2A POLR3A POLR3B POLR3GL POMT1 POMT2 POU3F3 PPFIBP1 PPP1R15B PPP1R21 PPP2CA PPP2R1A PRKDC PRMT7 PRPS1 PRUNE1 PSAP PSAT1 PTPN23 PUF60 PUS3 PYCR2 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAI1 RALGAPA1 RARS1 RB1 RELN REPS1 RERE RHOBTB2 RMND1 RNASEH2A RNASEH2B RNASEH2C RNF13 RNU4ATAC RNU7-1 RORA RSPRY1 RTTN RUSC2 SACS SAMHD1 SCN1B SCN2A SCN3A SEPSECS SETBP1 SETD2 SH3PXD2B SHMT2 SHOC2 SIK1 SIN3A SIX6 SLC1A2 SLC1A4 SLC25A10 SLC25A22 SLC25A24 SLC32A1 SLC35A2 SLC35B2 SLC5A6 SLC6A8 SLC6A9 SMARCE1 SMC1A SMG9 SNIP1 SON SOX2 SOX3 SPATA5 SPATA5L1 SPG11 SPG21 SPTAN1 SRPX2 SSR4 STAG2 STAMBP STXBP1 SVBP TAF1 TAF2 TARS2 TBC1D20 TBC1D23 TBCD TBCE TBCK TCF4 TECPR2 TGFB1 TMCO1 TMEM106B TMEM237 TMTC3 TMX2 TOE1 TOGARAM1 TP73 TRAPPC14 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRMT10A TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TTI2 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBGCP2 TYROBP UBA5 UBE3A UBE3B UBTF UGP2 UNC80 USP7 USP9X VAMP2 VARS1 VARS2 VPS11 VPS50 VPS51 VPS53 VWA3B WAC WDR26 WDR45B WDR62 WDR73 WDR81 WLS WT1 WWOX YARS1 YIF1B YWHAE YY1 ZBTB20 ZEB2 ZFR ZFYVE26 ZMIZ1 ZNF148 ZNF462 ZNHIT3 ZSWIM6 HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE CD96 DDR2 GON7 LAGE3 NUP107 NUP133 OSGEP TP53RK TPRKB WDR4 WDR73 YRDC HP_HYPOPLASIA_OF_THE_EPIGLOTTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS CILK1 FGF10 FGFR2 FGFR3 FREM2 GLI3 NEK1 PRRX1 SETBP1 SF3B4 HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD IDUA IFNGR1 POP1 SLC26A2 TRAF3IP1 HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES ANKLE2 ARHGEF9 ASPM BRAF CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CIT COPB2 DHCR7 DPM1 FDXR FIG4 KIF14 KNL1 MBD5 MCM7 MCPH1 METTL5 MFSD2A NCAPD3 NUP37 PHC1 PYCR2 RNU4ATAC RTTN SARS1 SASS6 SLC35C1 STIL TAF13 TRAPPC10 TRAPPC14 VAC14 WARS1 WDR62 HP_HYPOPLASIA_OF_THE_IRIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_IRIS ADAMTSL1 CHN1 COL4A1 CPAMD8 CPLX1 CTBP1 ERCC6 FBN1 FGFR1 FGFRL1 FOXC1 HHAT HS2ST1 IGF1R ITPR1 LAMB2 LETM1 LRP2 MAFB MIR184 MITF NDP NSD2 PAX3 PAX6 PIK3R1 PITX2 PORCN SALL4 SOX10 STIM1 VSX1 WDR73 WT1 HP_HYPOPLASIA_OF_THE_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_MUSCULATURE ACTA1 ALG9 ATP6V0A2 CAV3 COLEC11 FBN2 FLNA FLVCR2 GLE1 HACD1 HBB ITGA7 MAP3K20 MAP3K7 MYL2 MYMK PMP22 RBM8A SALL4 SCN4A SELENON TPM2 TPM3 HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS AIFM1 ARSB BGN COG4 COL2A1 COMP DDR2 DYM EIF2AK3 EXTL3 FGD1 FLNB FN1 GALNS GLB1 GNPTAB GUSB IARS2 IDUA INPPL1 LFNG LONP1 NFIX RAB33B RMRP TRAPPC2 TRPV4 HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB FOXP2 GSX2 POU3F3 SEMA3A SMCHD1 TUBB3 ZSWIM6 HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES ARID1B FIG4 IHH NOG SMARCA4 VAC14 WLS HP_HYPOPLASIA_OF_THE_PONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PONS ADGRG1 AGTPBP1 AHCY ALG3 AMPD2 APC2 ARHGEF2 ASNS ATXN2 ATXN8OS B3GALNT2 BRF1 CASK CDON CLCN3 DCC DISP1 DLL1 DOCK7 EPG5 EXOSC1 EXOSC3 EXOSC8 EXOSC9 FGF8 FKRP FOXH1 GAS1 GLI2 GMPPB GPHN LARGE1 MAB21L1 MACF1 MARS2 MDH1 MED23 MINPP1 NODAL PCLO PI4KA PIGS PLK4 PMM2 POGZ POMGNT1 POMK POMT1 POMT2 PPIL1 PPP2R1A PRDM13 PTCH1 PTEN RELN RERE ROBO1 ROBO3 RTTN SEPSECS SETD2 SHH SIX3 SLC25A46 SLC5A6 SMARCA2 SNX14 STIL STUB1 TBC1D23 TDGF1 TGIF1 TOE1 TRAPPC12 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB2B TUBB3 UBE2A VPS51 VRK1 WNT1 ZIC1 ZIC2 HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH ERCC1 ERCC4 ERCC6 ERCC8 GJA1 PCGF2 UBR1 HP_HYPOPLASIA_OF_THE_RADIUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_RADIUS AFF4 ALG12 APC ATR CCNQ CHN1 DHODH DONSON EIF4A3 ESCO2 FANCB FANCF FANCI FGF10 FGFR2 FGFR3 GDF5 IFT81 IHH LRP4 MAFB NIPBL NPR2 PDE4D PRKAR1A RAD51C RBM10 RBM8A RECQL4 RFWD3 ROR2 RPL26 RPS19 SALL4 SF3B4 SHOX SLX4 TBX3 TBX5 TRIP11 WNT7A XRCC2 HP_HYPOPLASIA_OF_THE_UTERUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_UTERUS ADH5 B3GLCT BMP15 BMPR1B C14orf39 CHD7 CLPP COX7B CYB5A CYP11B1 CYP17A1 DCAF17 DHH DUSP6 ERAL1 ESR1 FGF17 FGF8 FGFR1 FIGLA FOXL2 GNRH1 GNRHR HCCS HNF1B HS6ST1 IRF6 KIF14 KISS1 KISS1R LARS2 MRPS22 MSH5 NDUFB11 NHLH2 NIN NR5A1 NSMF NUP107 POR PPP2R3C PROK2 PROKR2 SOHLH1 SOX11 SPIDR SPRY4 STRA6 TAC3 TACR3 WDR11 WNT4 HP_HYPOPLASIA_OF_THE_VAGINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VAGINA B3GLCT CYB5A CYP11B1 CYP17A1 DHX37 DMRT3 GATA4 IRF6 MAP3K1 NR0B1 NR5A1 SOX9 SRY VAMP7 WT1 WWOX ZFPM2 HP_HYPOPLASIA_OF_THE_VENTRAL_PONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VENTRAL_PONS SEPSECS TSEN15 TSEN2 TSEN34 TSEN54 VRK1 HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE BAZ1B BCL7B BRAF BUD23 CHD7 CLIP2 CNOT1 COL11A1 DNAJC30 EIF4H ELN FGFR2 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KRAS LIMK1 MAP2K1 MAP2K2 METTL27 MLXIPL NBAS NCF1 NECTIN1 NOTCH2 OFD1 PEPD POLR1B POLR1C POLR1D RFC2 RUNX2 SEMA3E SF3B2 SF3B4 STX1A TBL2 TCOF1 TMEM270 TWIST2 VPS13B VPS37D HP_HYPOPLASTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ANEMIA KIF23 LPIN2 MVK RMRP RPS19 SAMD9L ZNF699 HP_HYPOPLASTIC_AORTIC_ARCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_AORTIC_ARCH BCOR CIROP CREBBP EP300 FOXF1 GJA1 GNB2 MAP3K7 NKX2-5 PPP1CB PPP2R1A PUF60 ZIC3 HP_HYPOPLASTIC_CERVICAL_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_CERVICAL_VERTEBRAE ARSL EBP FLNB POGZ SLC26A2 SLC35B2 SOX9 TRPV4 HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 PLEC HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA ACTB AR B3GLCT BRD4 CCNQ CDC45 CDC6 CDT1 CHD7 CTCF DVL1 DVL3 ECEL1 ESR2 FGFR2 FIG4 FZD2 GAD1 GMNN HDAC8 HERC2 HNRNPR IRF6 KAT6B MAGEL2 MKRN3 MOGS NDN NIPBL NPAP1 NXN OCA2 ORC1 ORC4 ORC6 POC1A POR PORCN PPP2R3C PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RIPK4 ROR2 SEMA3E SETBP1 SIM1 SLC25A24 SMARCA2 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TP63 TWIST2 UBE3B VAC14 WNT5A HP_HYPOPLASTIC_FIFTH_FINGERNAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_FINGERNAIL ARID1A ARID1B ARID2 DPF2 PGAP2 PIGF RBPJ SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 HP_HYPOPLASTIC_FIFTH_TOENAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_TOENAIL ARID1A ARID1B ARID2 DPF2 HOXA13 KRT5 PPP2R5D SET SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 HP_HYPOPLASTIC_FINGERNAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FINGERNAIL ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BMPER CCDC22 CDKN1C CENPT COL11A1 COL11A2 DLL4 DOCK6 DPF2 DPYSL5 EOGT FBXO28 FGFR2 HMGA2 HYMAI IGF2 IKBKG KCNH1 KCNMA1 KCNN3 MBTPS2 MSX1 NOTCH1 PGAP2 PIGF PIGN PIGO PLAG1 PLAGL1 PLEC PTDSS1 RBPJ ROR2 RPS6KA3 SHOX SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 TBC1D24 TFAP2A TWIST2 VPS35L WASHC5 ZNF462 HP_HYPOPLASTIC_FRONTAL_SINUSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FRONTAL_SINUSES AGA ALX3 COL11A1 FLNA RUNX2 SFRP4 TRIM37 HP_HYPOPLASTIC_HEART https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HEART ARHGAP31 ATP6V1A B3GLCT CCDC22 CDK8 CFAP53 CHRNA1 CHRND CHRNG CIROP COQ4 CPLANE1 CREBBP CTU2 DPYSL5 DTNA DVL3 EP300 FLI1 FOXF1 GATA4 GATA5 GATA6 GJA1 GNB2 H3-3B HAAO IFT27 KYNU MCTP2 MKKS MYRF NADSYN1 NKX2-5 NOTCH1 NR2F2 PAH PKD1L1 PLXND1 SMAD6 SPOP STAG2 TBX1 TBX5 TMEM218 TRAF7 VPS35L WASHC5 WT1 ZIC3 HP_HYPOPLASTIC_HELICES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HELICES AASS AGO2 FOXP1 FRAS1 GNAI3 HOXA2 PAH PBX1 PLCB4 TFAP2A HP_HYPOPLASTIC_HIPPOCAMPUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HIPPOCAMPUS ATP1A3 CAMTA1 CARS2 CLCN3 EML1 GRIN1 MTHFD1 NDE1 OSTM1 POU4F1 SCN1A SLC35A2 STAMBP TCF4 TUBA1A VPS13A VPS51 HP_HYPOPLASTIC_ILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIA ACP5 ARSB B3GALT6 CCBE1 COL11A1 COL11A2 COL2A1 CREBBP CTSK DLK1 DYM EED EP300 ERCC6 ERCC8 EVC EVC2 EZH2 FGFR3 FLNA FLNB FN1 GATA1 HDAC6 HSPG2 IFT81 IHH INPPL1 KAT6B LAMA5 LIFR LYSET MAN2B1 MEG3 NKX3-2 PCNT PCYT1A POLR3A POP1 RIPK4 RMRP RNU4ATAC RPS19 RTL1 RUNX2 SLC26A2 SLC35D1 SMAD4 SOX9 TBX15 TMEM67 TRAPPC2 WDR19 WNT7A HP_HYPOPLASTIC_ILIAC_WING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIAC_WING ARSB CCBE1 COL2A1 CREBBP CTSK DLK1 DYM EED EP300 ERCC6 ERCC8 EVC EVC2 EZH2 FN1 GATA1 HDAC6 IHH LAMA5 LYSET MEG3 NKX3-2 PCNT RIPK4 RTL1 RUNX2 SMAD4 SOX9 TBX15 TRAPPC2 WNT7A HP_HYPOPLASTIC_IRIS_STROMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_IRIS_STROMA CHN1 FOXC1 MAFB MITF PAX3 PAX6 PITX2 SALL4 HP_HYPOPLASTIC_ISCHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ISCHIA ABCC9 CCDC8 CDCA7 COL11A1 COL11A2 COL2A1 CUL7 FGFR2 HSPG2 IFT43 INPPL1 KAT6B OBSL1 PAM16 TBX15 TRIP11 HP_HYPOPLASTIC_LABIA_MAJORA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MAJORA B3GLCT BRD4 CDC45 CDC6 CDT1 CTCF DVL1 DVL3 ECEL1 ESR2 FGFR2 FIG4 FZD2 GAD1 GMNN HDAC8 IRF6 NIPBL ORC1 ORC4 ORC6 POR PPP2R3C RAB3GAP2 RAD21 RIPK4 ROR2 SETBP1 SLC25A24 SMC1A SMC3 SMCHD1 TP63 TWIST2 UBE3B VAC14 WNT5A HP_HYPOPLASTIC_LABIA_MINORA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MINORA ACTB CDC45 CDC6 CDT1 DVL1 DVL3 FZD2 GAD1 GMNN HERC2 MAGEL2 MKRN3 NDN NPAP1 OCA2 ORC1 ORC4 ORC6 PWAR1 PWRN1 RAB18 RAB3GAP1 RAB3GAP2 SETBP1 SIM1 SNORD115-1 SNORD116-1 SNRPN TBC1D20 TWIST2 WNT5A HP_HYPOPLASTIC_NIPPLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_NIPPLES ALG9 ANTXR1 BRD4 CCDC47 CHRNG DLK1 EDA EDARADD FAT4 FIG4 GNE HDAC8 IKBKG KDM6B KIF15 KMT2D KRT10 MEG3 MEGF8 MGAT2 NIPBL PEX2 PIGL PORCN PTPRF RAD21 RTL1 SETBP1 SLC25A24 SMC1A SMC3 TBX3 TP63 TUBB TWIST2 UBR1 USP9X WNT7A HP_HYPOPLASTIC_PELVIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PELVIS CCDC8 CEP120 COL2A1 COMP CUL7 ERCC6 ERCC8 FGFR3 NSDHL OBSL1 POC1A PORCN RSPO2 SMARCAL1 WNT3 WNT7A HP_HYPOPLASTIC_PUBIC_RAMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PUBIC_RAMUS CPLX1 CTBP1 KAT6B LETM1 NELFA NSD2 PIGG HP_HYPOPLASTIC_SACRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SACRUM FANCL POC1A ROR2 RPS19 TP63 TRIP11 HP_HYPOPLASTIC_SPLEEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SPLEEN FAM111A KATNB1 MCM10 NDE1 RELN SAMD9 STIM1 STRA6 HP_HYPOPLASTIC_TOENAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_TOENAILS AFF4 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BUD23 CLIP2 COL11A1 CPT2 DLL4 DNAJC30 DPF2 DPH1 DPH2 DYNC2LI1 EED EIF4H EIF5A ELN EOGT EVC EVC2 EZH2 FGFR1 FKBP6 FTO GLI1 GTF2I GTF2IRD1 GTF2IRD2 HOXA13 HRAS INPPL1 KDM1A KRT5 LIG4 LIMK1 METTL27 MLXIPL MSX1 NCF1 NECTIN4 NOTCH1 NSD1 NSUN2 ODC1 PIGF PPP1CB PPP2R5D PRKACA PRKACB RFC2 RIPK4 SCO2 SET SHANK3 SHOC2 SLC35D1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 STX1A SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TMEM270 VPS37D WLS ZIC3 ZMYM2 HP_HYPOPLASTIC_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_VERTEBRAL_BODIES ACVR1 CSPP1 FUZ GLB1 GNS INPPL1 KIAA0586 LBR POLR3A PRKAR1A RINT1 SLC29A3 SLC35D1 SUMF1 TCIRG1 TNFRSF11A VANGL1 HP_HYPOPROTEINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPROTEINEMIA ACADVL ALB B2M CD55 DCLRE1C DPAGT1 FOCAD LAMB2 LYST NOS1AP NPHS1 PRF1 RAG1 RAG2 RBCK1 SLC25A13 TMPRSS15 UBR1 HP_HYPOREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA AARS1 AARS2 ABCA1 ABHD12 ACAT1 ACD ACO2 ACOX1 ACTA1 ACTL6B ADSS1 AGRN AGTPBP1 AIFM1 ALDH5A1 AMT ANXA11 AP3B2 APTX AR ARHGEF2 ARSA ARV1 ATL3 ATN1 ATP1A1 ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP6V1B2 ATP7A ATP9A ATXN1 ATXN10 ATXN2 B3GALNT2 B4GALNT1 B4GAT1 BAG3 BEAN1 BICD2 BSND C19orf12 CACNA1A CACNA1B CACNA1S CACNA2D1 CARS1 CCDC47 CDK19 CELF2 CFL2 CHAT CHCHD10 CLCNKA CLCNKB CLTC CNBP CNKSR2 CNTNAP1 CNTNAP2 COA7 COASY COG7 COL13A1 COL4A1 COLQ COX6A1 COX8A CPT1A CRPPA CRYAB CYFIP2 DAG1 DALRD3 DARS2 DBH DCAF8 DEAF1 DES DGUOK DHDDS DHH DHTKD1 DHX30 DKC1 DMD DNAJC6 DNM1 DNM2 DNMT1 DOCK3 DPAGT1 DUOX2 DUOXA2 DYNC1H1 DYSF EEF1A2 EGR2 ELOVL4 ELP1 EMC1 ERCC2 ERCC3 ERCC6 EXOSC1 EXOSC3 EXOSC8 EXOSC9 EXTL3 FASTKD2 FBLN5 FBN1 FBXO28 FBXO38 FDX2 FGD4 FGF12 FGF13 FHL1 FIG4 FKRP FKTN FLI1 FLII FLNC FLRT1 FMR1 FUS FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GALC GAN GARS1 GBA1 GBF1 GDAP1 GEMIN4 GJB1 GLDC GNAS GNB4 GNPTAB GRIA3 GRIN2A GRIN2D GTF2E2 GTF2H5 HADHA HADHB HCN1 HDAC4 HESX1 HK1 HMGCL HNRNPDL HSD17B4 HSPB1 HSPB8 HSPG2 IARS2 IBA57 IFRD1 IGHMBP2 INF2 INPP5K IQSEC2 IYD KARS1 KBTBD13 KCNA2 KCNB1 KCND3 KCNJ18 KIAA0586 KIF1A KIF1B KLC2 KLHL41 KY LAMB2 LARGE1 LDB3 LGI3 LHX3 LHX4 LITAF LMNA LMOD3 LPIN1 LRP4 LRRK1 LRSAM1 LYST MAG MCM3AP MDH2 MED25 MEGF10 MFN2 MGME1 MME MORC2 MPLKIP MPV17 MPZ MRE11 MSTO1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TV MT-TW MTPAP MYH14 MYH7 MYO9A MYOT MYPN NAGLU NARS1 NARS2 NDE1 NDRG1 NDUFA1 NDUFA9 NDUFAF2 NDUFS4 NEB NECAP1 NEFH NEFL NFASC NGLY1 NOTCH2NLC NTRK2 NUS1 PACS2 PARN PARS2 PDHB PDK3 PEX1 PEX10 PEX12 PEX2 PEX5 PEX6 PEX7 PGM3 PHYH PIEZO2 PIGB PIGG PIGN PIK3R5 PLP1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPT1 PODXL POLG POLG2 POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPOX PPP1R21 PPP3CA PRDM12 PRDM13 PRKCG PROP1 PRX PSAP PTF1A PTRH2 PYROXD1 QRICH1 RAB7A RAI1 REEP1 RETREG1 RFC1 RMND1 RNASEH1 RNF113A RNF170 RRM2B RTEL1 RUBCN RXYLT1 RYR1 SBF2 SCN3A SCN8A SCN9A SCYL1 SELENON SEPTIN9 SETX SHANK3 SIL1 SLC13A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A4 SLC25A46 SLC35A1 SLC38A3 SLC5A5 SLC5A7 SMN1 SMN2 SMPD1 SNAP25 SNIP1 SNRPN SNX14 SOX10 SPTLC1 SPTLC2 SQSTM1 ST3GAL5 STAC3 STIM1 STX16 SUCLA2 SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TAOK1 TARDBP TARS1 TBC1D23 TBC1D24 TBCK TBK1 TERT TG TINF2 TK2 TMCO1 TMEM240 TPI1 TPM2 TPM3 TPO TRAK1 TRAPPC11 TRIM32 TRIM8 TRMT5 TRMU TRPV4 TSEN15 TSHB TSHR TSPYL1 TTR TUBA8 TWNK UBA5 VAMP1 VAPB VCP VPS13A VPS33A VRK1 VWA1 WARS1 WDR81 WNK1 WWOX XPA YWHAG ZSWIM6 HP_HYPOREFLEXIA_OF_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_LOWER_LIMBS ADSS1 ATL3 ATP6AP2 ATP9A BICD2 CRYAB DES DYNC1H1 DYSF FASTKD2 FBLN5 FBXO38 FLNC FLRT1 GAN GDAP1 HADHA HADHB HSPB1 HSPB8 IBA57 IFRD1 KLC2 LDB3 LMNA MAG MTPAP MYH14 MYOT PDK3 PMP22 PRKCG REEP1 RUBCN SPTLC2 STIM1 HP_HYPOREFLEXIA_OF_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_UPPER_LIMBS ACOX1 ATP6AP2 GDAP1 HSPB1 MT-TE PMP22 RUBCN RYR1 ST3GAL5 HP_HYPOSEGMENTATION_OF_NEUTROPHIL_NUCLEI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSEGMENTATION_OF_NEUTROPHIL_NUCLEI CEBPE LBR NBAS SF3B1 TET2 TMEM147 HP_HYPOSMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSMIA ADCY3 ANOS1 ATP13A2 ATP7B CCDC141 CEP290 CHD7 DCC DDX6 DNAJC13 DNAJC6 DUSP6 EIF4G1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 GBA1 GIGYF2 HESX1 HS6ST1 HTRA2 IFT27 IL17RD LRRK2 LZTFL1 NDNF NSMF PARK7 PINK1 PODXL PRDM12 PRKN PROK2 PROKR2 PTPN11 SCN9A SCP2 SEMA3A SLC39A14 SMCHD1 SNCA SOX10 SPRY4 SYNJ1 TACR3 TSHZ1 UCHL1 VPS13C VPS35 WDR11 HP_HYPOTELORISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTELORISM AARS1 AASS ABCC9 ACBD5 ALDH18A1 AP3D1 ARCN1 ARID1B ATP6AP1 BICRA BLTP1 CAMK2A CARS1 CCDC32 CDK19 CDON CEP57 CILK1 CLCN3 CNOT1 CNOT3 COX14 CUX1 DCLRE1B DDB1 DISP1 DLL1 DPM2 DPYSL5 DYRK1A ELN EPG5 ERCC2 ERCC3 EVC EVC2 FANCD2 FARSB FGF8 FGFR1 FGFR2 FGFR3 FKBP14 FOXH1 FREM1 GAS1 GATA2 GGT1 GJA1 GJA5 GJA8 GLI2 GNB2 GON7 GPT2 GSC GTF2E2 GTF2H5 HNRNPH2 HUWE1 IFT122 IFT43 IFT52 KANSL1 KAT8 KCTD1 KIF26A LAGE3 LIG4 MKS1 MLXIPL MPLKIP MSTO1 MSX2 NARS1 NDE1 NDP NF1 NIN NODAL NSUN2 NTNG2 NUP107 NUP133 OPHN1 OSGEP PAH PDE4D PDGFRB PLCH1 POLR3A POLRMT PPP1R15B PRKAR1B PROKR2 PRPS1 PTCH1 PYCR1 QARS1 RAB3GAP1 RAB3GAP2 RAD21 RECQL4 RERE RLIM RNF113A RTTN SEPTIN9 SHH SHPK SIX3 SLC35A1 SMC1A SMPD4 SNRPN SRC STAG2 STIL STIM1 SUFU TARS1 TDGF1 TGIF1 TP53RK TPRKB TRAPPC9 TRMT10A TRRAP TWIST1 USP9X WDR19 WDR35 WDR4 WDR73 XRCC4 YRDC ZIC2 ZNF699 HP_HYPOTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTENSION AAAS ABCA3 ACAT1 ACE AGT AGTR1 AIP ALB ARSA ASXL1 ATP7A ATRX CASR CAV1 CBL CD46 CDH23 CFH CFI CHCHD2 CHRNA3 CLCNKB COL1A1 COL5A1 COL5A2 COQ2 CYB561 CYP11A1 CYP11B2 DAXX DBH DCTN1 DDC DNAJC13 EIF4G1 ELP1 FMR1 FOXA2 GBA1 GBE1 GIGYF2 GLI2 GMPPA GNA11 GSN HADHB HELLPAR HESX1 HEXB HMGCL HSD3B2 IL12A IL12RB1 IRF4 IRF5 KCNJ1 KIT KYNU LEP LEPR LHX4 LMNB1 LRRK2 MC2R MEN1 MMEL1 MRAP MUC1 NFKB2 NNT NR3C2 NTRK1 OTX2 PDE4D POU1F1 POU2AF1 PRKAG2 PROP1 PSAP REN RUNX1 RYR1 SAA1 SCNN1A SCNN1B SERPINA6 SERPING1 SFTPB SFTPC SIM1 SLC12A1 SLC12A3 SLC25A20 SNCA SOX3 SPG11 SPIB SRSF2 STAR TBX19 TET2 TNFSF15 TNNT2 TNPO3 TTR TXNRD2 VHL VPS35 HP_HYPOTHALAMIC_HAMARTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HAMARTOMA CPLANE1 FAM149B1 GLI3 KIAA0753 KIF7 MAN2C1 OFD1 PDE6D SIX6 SMO SOX2 TCTN3 TIAM1 TMEM216 TOPORS VPS16 HP_HYPOTHALAMIC_HYPOTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HYPOTHYROIDISM AKT1 BAP1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TRH HP_HYPOTHERMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHERMIA ACADSB ACADVL ATP7A BRAT1 BTNL2 CACNA1C COA6 COQ9 DBH DDC DGUOK DUOX2 DUOXA2 GABRA2 HESX1 HLA-DRB1 HMGCL IYD LHX3 LHX4 LMNB1 MICOS13 MMACHC MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NTRK1 P4HTM PAX8 POU1F1 PROP1 SCN10A SCN11A SCN9A SLC25A20 SLC52A1 SLC5A5 SUCLG1 TBCK TG TPO TSHB TSHR TSPYL1 UQCRFS1 HP_HYPOURICEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOURICEMIA ATP7B CTNS EHHADH GATM GPHN HNF4A MOCOS MOCS1 MOCS2 NDUFAF6 PNP PRPS1 SLC22A12 SLC2A2 SLC2A9 SLC34A1 HP_HYPOVENTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVENTILATION ACTA1 ASCL1 CFL2 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COX11 CRLS1 DCTN1 DMD DNAJB4 DZIP1L FKRP HERC2 HNRNPK HOXA1 KLHL41 LAMA2 LAMB2 LBX1 LMOD3 MAGEL2 MECP2 MKRN3 MOGS MYH7 MYO1H MYPN NDUFAF2 NDUFS6 NEB NPAP1 P4HTM PHOX2B PKHD1 POLG PURA PWAR1 PWRN1 RET SELENON SETD2 SH3TC2 SLC52A3 SLC5A7 SNORD115-1 SNORD116-1 TPM2 TPM3 TTN HP_HYPOVOLEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVOLEMIA ABCC8 ACTA2 AQP2 AVPR2 CTNS CYP11A1 ELN FBN1 FOXE3 FSHR GCK HEY2 INS KCNJ11 LOX MAT2A MFAP5 MYH11 MYLK MYO5B PDX1 PRKG1 SMAD2 SMAD3 SMAD4 STAT3 STX3 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 HP_HYPOVOLEMIC_SHOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVOLEMIC_SHOCK DSP JUP SCNN1A SCNN1B SCNN1G HP_HYPSARRHYTHMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPSARRHYTHMIA AARS1 ABCC8 ACTL6B AIMP2 ALDH7A1 ALG13 ALG14 ALG2 ALG3 AP3B2 APC2 ARFGEF1 ARFGEF2 ARV1 ARX ASNS ASPA ATAD1 ATN1 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP7A CACNA1A CACNA1B CACNA1E CACNA2D1 CAMSAP1 CASK CCDC88A CDK19 CDKL5 CELF2 CLTC CNKSR2 CNPY3 COX4I1 CTNNA2 CUL3 CUX2 CYFIP2 D2HGDH DALRD3 DCX DEPDC5 DHDDS DMXL2 DNM1 DOCK7 DOLK DPAGT1 EEF1A2 EPM2A ERMARD EXOC8 FBXO28 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRG2 GAD1 GFM2 GLYCTK GNAO1 GNB1 GNB5 GOLGA2 GRIN1 GRIN2B GRIN2D GRM7 GUF1 HCFC1 HCN1 HIBCH HID1 HMGCL IARS2 IER3IP1 KCNA1 KCNA2 KCNB1 KCNC2 KCNJ11 KCNQ2 KCNT1 KCNT2 KIF1A LONP1 MDH1 MED17 MFF MGAT2 MPDU1 MT-TL1 NACC1 NARS2 NAXD NDUFAF8 NECAP1 NEDD4L NEUROD2 NEXMIF NF1 NHLRC1 NPRL2 NPRL3 NTRK2 NUS1 OGDHL PACS2 PAFAH1B1 PARS2 PCDH12 PDHA1 PHACTR1 PHGDH PIGA PIGP PIGQ PIGW PLAA PLCB1 PLPBP PNKP PPFIBP1 PPP3CA PTPN23 PTS ROGDI RUSC2 SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SETBP1 SIK1 SLC12A5 SLC13A5 SLC1A2 SLC1A4 SLC25A22 SLC32A1 SLC35A2 SLC38A3 SLC39A8 SMC1A SPATA5 SPTAN1 SPTBN1 ST3GAL3 STXBP1 SYNGAP1 SYNJ1 SZT2 TBC1D24 TBL1XR1 TGFB1 TIMM50 TRAK1 TRAPPC12 TRIM8 TUBB2A UBA5 UFC1 UGDH UPB1 WDR45 WWOX YWHAG ZNF526 ZNHIT3 HP_ICHTHYOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ICHTHYOSIS AARS1 ABCA12 ABHD5 AHSG ALDH3A2 ALOX12B ALOXE3 ANOS1 AP1B1 AP1S1 ARSL ASPRV1 BRAF CARD14 CARMIL2 CARS1 CCDC141 CERS3 CHD7 CHKB CLDN1 COL4A5 CSTA CWC27 CYP4F22 DCC DNAJC21 DOLK DSG1 DSP DUSP6 EBP EFL1 ELOVL1 ELOVL4 EMD ERCC2 ERCC3 FEZF1 FGF17 FGF8 FGFR1 FHL1 FITM2 FLG FLRT3 GBA1 GINS1 GJB2 GJB6 GNB2 GTF2E2 GTF2H5 HESX1 HRAS HS6ST1 IL17RD IL2RB ITGB6 KANSL1 KDSR KRAS KRT1 KRT10 KRT16 KRT2 KRT9 LIPN LMNA LORICRIN LSS MAP2K1 MAP2K2 MARS1 MBTPS2 MPDU1 MPLKIP MSMO1 NDNF NEK9 NIPAL4 NLRP3 NOD2 NRAS NSDHL ORAI1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHGDH PHYH PIGA PIGL PNPLA1 PNPLA2 POMP PROK2 PROKR2 PSAT1 RIN2 RNF113A SBDS SDR9C7 SEMA3A SGPL1 SHOC2 SLC27A4 SLC29A3 SLURP1 SMARCA2 SNAP29 SOX10 SPINK5 SPRY4 SRD5A3 SREBF1 SRP54 ST14 STIM1 STS SULT2B1 SUMF1 SYNE1 SYNE2 TACR3 TARS1 TGM1 TGM5 TMEM43 TMPRSS6 VIPAS39 VPS33B WDR11 HP_ILEAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEAL_ATRESIA DIS3L2 GMPPB MYH11 PPP1R12A TTC7A HP_ILEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEUS CAVIN1 CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA EWSR1 FAH FCGR2A FOXP3 GCLC GSTM3 GUCY2C HFE HMBS HMOX1 KCNN4 KIF26A MIF MTRFR PPOX SERPINA1 SLC11A1 SLC18A3 SLC26A9 SLC6A14 SLC6A8 SLC9A3 SOX10 STX1A TGFB1 WT1 HP_IMMOTILE_CILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_CILIA CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF3 DNAAF4 DNAAF5 DNAI1 RSPH1 RSPH3 RSPH4A TTC12 ZMYND10 HP_IMMOTILE_SPERM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_SPERM CATSPER1 CATSPER2 CCDC39 CCDC40 CDC14A CFAP65 CFAP70 DNAAF5 DNAJB13 DZIP1 GAS2L2 IFT74 RSPH9 SPINK2 STRC HP_IMMUNE_DYSREGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNE_DYSREGULATION ACP5 FOXP3 LAT LEPR PLCG2 PRF1 STAT1 STX11 STXBP2 TOM1 UNC13D HP_IMMUNODEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNODEFICIENCY ACD ACP5 ACTB ADA ADA2 AGL AICDA AK2 AKT1 ALG1 AMN ANTXR2 AP3D1 ARVCF ATM ATRX BCL10 BCL11B BCR BLNK BRAF BTK BUB1B CACNA1C CARD11 CARD9 CCDC47 CD19 CD247 CD28 CD3D CD3E CD3G CD40 CD40LG CD79A CD79B CD81 CDC42 CDCA7 CDH23 CHD1 CHD7 COMT CORO1A CPLX1 CR2 CREBBP CRKL CTBP1 CTC1 CTLA4 CTPS1 CUBN CUL4B CYBA CYBB DCLRE1B DCLRE1C DKC1 DNAJC21 DNMT3B DOCK2 DPP9 EFL1 EP300 EPG5 EXTL3 FCGR3A FGFRL1 FOXN1 FRAS1 GATA2 GP1BB HBB HELLS HIRA HYOU1 ICOS IFNGR1 IFNGR2 IGHM IGLL1 IKBKB IKBKG IKZF1 IL12B IL12RB1 IL21R IL2RA IL2RB IL2RG IL7R IRAK4 IRF2BP2 IRF7 IRF8 ISG15 IVNS1ABP JAK3 JMJD1C KLLN KNSTRN LAMTOR2 LAT LCK LCP2 LETM1 LIG4 LMNB2 LRBA LRRC8A LYST MAGT1 MALT1 MAN2B1 MAPK1 MBTPS2 MCM10 MEIS2 MGAT2 MLPH MMUT MS4A1 MTHFD1 MYC MYD88 NCF1 NCF2 NFE2L2 NFKB1 NFKB2 NHEJ1 NHP2 NOP10 NPM1 NR3C1 NSD2 ORAI1 OTULIN PARN PGM3 PI4KA PIK3CA PIK3CD PIK3R1 PNP POGZ POLE PRKCD PRKDC PRPS1 PTEN RAB27A RAC2 RAG1 RAG2 RBCK1 RMRP RNF168 RREB1 RTEL1 SBDS SDHB SDHC SDHD SEC23B SEC24C SH2D1A SHANK3 SIK3 SKIC2 SKIC3 SLC39A7 SLC46A1 SMARCAL1 SP110 SPATA5 SPI1 SRP54 STAT1 STIM1 STK4 TBCE TBK1 TBX1 TCF3 TERC TERT TFRC TICAM1 TINF2 TLR3 TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF4 TNFSF12 TOM1 TP53 TRAF3 TTC7A TYK2 TYMS UFD1 UNC119 UNC93B1 UNG USB1 USF3 USP48 USP8 WAS WIPF1 WRAP53 XIAP XRCC4 ZBTB24 ZNF699 HP_IMMUNOLOGIC_HYPERSENSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNOLOGIC_HYPERSENSITIVITY ABCC9 ADA AFF4 AGR2 ALG9 ALMS1 ALOX5 ARL6 ARSL ARVCF ASXL1 BBS1 BCL11B BICRA C4A C4B CAMK2B CARD10 CARD11 CARMIL2 CASP8 CBL CCDC28B CCL11 CCR1 CDC42BPB CDH3 CDKN1C CDON CDSN CEACAM3 CEACAM6 CFTR CHD1 CLCA4 COMT COX4I2 CPN1 CREBBP CSTA CTLA4 DCTN4 DDX41 DISP1 DLL1 DNASE1L3 DOCK8 DPP9 DSG1 EDNRA ELN ELOVL4 EP300 ERAP1 ERCC2 FAS FCGR2A FGF8 FGFR1 FLG FOCAD FOXH1 FOXP1 FOXP2 FOXP3 GAS1 GCLC GGT1 GLI2 GNB1 GNB2 GP1BA GP1BB GP9 GPR35 GRHL2 GSTM3 HFE HIRA HLA-B HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-G HMGA2 HMOX1 HNMT IDS IFNGR1 IFT172 IGF2 IGHG2 IGKC IL10 IL12A IL12A-AS1 IL12RB1 IL13 IL21R IL23R IL4R IL6ST IPO8 IRF5 IVNS1ABP JAK1 JMJD1C KCNN4 KIT KLRC4 KRT74 LIFR LIG4 LMX1B LRBA MED12 MEFV MIA3 MIF MLXIPL MMEL1 MS4A2 MST1 MTOR MUC7 NEK9 NFKB2 NKX2-1 NOD2 NODAL NSUN2 ODAD3 ODC1 PEPD PEX5 PGM3 PLA2G7 PLAG1 PLCG2 POU2AF1 PSTPIP1 PTCH1 PTGER2 RBM8A RELB RFX7 RIC1 RREB1 RUNX1 SATB2 SCGB3A2 SCN4A SDHD SEC24C SEMA4D SERPINA1 SHH SIK3 SIX3 SLC11A1 SLC26A9 SLC27A4 SLC6A14 SLC9A3 SOCS1 SOX6 SPIB SPINK5 SPTBN1 SRCAP SRSF2 STAT3 STAT4 STAT5B STX1A STXBP1 SUFU TALDO1 TBC1D7 TBCK TBX1 TBX21 TCF4 TDGF1 TET2 TGFB1 TGIF1 TGM5 TLR4 TNF TNFSF15 TNPO3 TRAIP TTC26 UBAC2 UFD1 UNC45A USP7 VPS51 WAC WDR11 ZIC2 ZNF699 HP_IMPACTED_TOOTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPACTED_TOOTH CDH11 FLNA HOXD13 LMNA PTH1R SH3BP2 ZMPSTE24 HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION ACTN1 AP3B1 CALR FLI1 GP1BA HPS5 HPS6 IKZF5 ITGA2B ITGB3 MYH9 P2RY12 RASGRP2 SH2B3 THPO HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE ADA AICDA ALG12 ARHGEF1 B2M BTK CARD11 CARMIL2 CASP10 CASP8 CD19 CD247 CD70 CD79A CD81 COG6 CORO1A CR2 CTNNBL1 CTPS1 DOCK2 FAS FASLG HYOU1 ICOS IGHG2 IGKC IKBKG IL2RA IRF2BP2 KNSTRN LCP2 LRBA MAGT1 MALT1 NSMCE3 PGM3 PIK3CD PMM2 PRKCD RAC2 RAG1 RAG2 RASGRP1 REL RIPK1 SASH3 SLC35C1 TCF3 TNFRSF13B TNFRSF13C TNFRSF9 WAS ZAP70 HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION BLOC1S5 CALR CISD2 GFI1B GP6 IKZF5 ITGA2B ITGB3 LCP2 NBEAL2 SH2B3 THPO HP_IMPAIRED_CORTISOL_RESPONSE_TO_INSULIN_STIMULATION_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_CORTISOL_RESPONSE_TO_INSULIN_STIMULATION_TEST MC2R MRAP NNT STAR TXNRD2 HP_IMPAIRED_DISTAL_PROPRIOCEPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_PROPRIOCEPTION BSCL2 CYP7B1 DARS2 GDAP1 KIF1A MORC2 MTTP NDRG1 PDYN POLG POLR3A POLR3B SPTLC1 TDP1 TWNK XRCC1 HP_IMPAIRED_DISTAL_TACTILE_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_TACTILE_SENSATION ADA2 ATL1 ATL3 ATXN1 BSCL2 DCAF8 DHH GDAP1 HARS1 KLHL9 MORC2 MPV17 MTRFR NDRG1 PNPT1 POLG RAB7A SETX SPTLC1 SPTLC2 TWNK VCP HP_IMPAIRED_DISTAL_VIBRATION_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION ABCD1 ALDH18A1 AMPD2 APTX ATP1A1 B4GALNT1 CACNA1G CADM3 CHCHD10 CHP1 CPT1C DCAF8 DHH DHTKD1 EGR2 FMR1 GBA2 GCH1 GDAP1 JAG1 KCNC3 KCND3 KIF1A KIF5A LMNB1 LRSAM1 MAG MORC2 MPZ MTRFR NDRG1 NEFL PDK3 PDXK PDYN PEX10 PMP2 PMP22 POLG POLR3B PRKCG PRX REEP2 SETX SH3TC2 SPART SPAST SPG11 TWNK UCHL1 VCP XK XRCC1 HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION CALR GFI1B ITGA2B ITGB3 MYH9 PLAU RASGRP2 SH2B3 THPO HP_IMPAIRED_EXECUTIVE_FUNCTIONING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_EXECUTIVE_FUNCTIONING APTX CSF1R CYLD FAR1 NPTX1 PDGFB SPTLC1 VPS13D HP_IMPAIRED_GLUCOSE_TOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_GLUCOSE_TOLERANCE ABCC8 AIP APPL1 ATRX BLK BRAF CAV1 CDH23 CEL ESR1 GCK HNF1A HNF1B HNF4A IFT172 INS INSR KCNJ11 KLF11 LMNA LRP6 MAFA NEUROD1 NR3C1 NSMCE2 PAX4 PDX1 POLG2 PSMB8 SLC2A2 SLC40A1 SLC5A1 SLC5A2 TP53 USP48 USP8 WFS1 HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT ATXN1 ATXN2 ATXN3 EEF2 POLR3B RFC1 STXBP1 HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ BCL11B IL2RG JAK3 KLHDC8B MCM10 MGAT2 MYD88 PTPRC RELB RMRP STAT1 TTC7A WAS ZAP70 HP_IMPAIRED_MASTICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MASTICATION ACTA1 ADNP ADSS1 ALS2 AXIN2 CHRNA1 COLQ EDA EDARADD FARS2 FGFR1 GNAI3 GRIN1 H4C5 HACD1 HLA-B HLA-DRB1 HOXB1 IDS IRF6 ITGA7 KANSL1 LAMA2 LAMB2 LPIN1 LRP6 MAP3K20 MSX1 MT-CO1 MT-CO3 MTRFR MYL2 NAA20 NECTIN1 OBSCN P4HA2 PAX9 PPP2R5D PTPN22 PYGM PYROXD1 SELENON SLC39A14 SUMO1 TGFA TP63 TPM2 TPM3 TUBB3 WNT10A WNT10B HP_IMPAIRED_MYOCARDIAL_CONTRACTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MYOCARDIAL_CONTRACTILITY ABCC9 ALPK3 CACNA1S CSRP3 DSP GABRA3 JUP KCNE3 KCNJ18 SCN4A HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY CEBPE CYBA CYBB CYBC1 GPI IRF8 LYST NCF1 NCF2 RAC2 SPPL2A HP_IMPAIRED_NEUTROPHIL_CHEMOTAXIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_NEUTROPHIL_CHEMOTAXIS CEBPE DNAJC21 EFL1 LCP2 PMM2 RAC2 SBDS SRP54 HP_IMPAIRED_OCULAR_ABDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OCULAR_ABDUCTION MAFB MYMK MYMX ROBO3 SALL4 HP_IMPAIRED_OCULAR_ADDUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OCULAR_ADDUCTION COL25A1 KIF21A MAFB PHOX2A SALL4 TUBA1A TUBB2B TUBB3 HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE BRAF GIPC1 LRP12 NGLY1 NOTCH2NLC PLAA PMP22 RILPL1 SEPSECS TAF1 TSEN15 TSEN2 TSEN34 TSEN54 HP_IMPAIRED_OXIDATIVE_BURST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OXIDATIVE_BURST CYBA CYBB CYBC1 IRF8 NCF1 NCF2 RAC2 SPPL2A HP_IMPAIRED_PAIN_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PAIN_SENSATION ABCA1 AIFM1 ATL1 ATL3 ATXN1 CACNA2D1 CCT5 CDKL5 CHAMP1 CLTCL1 DDHD1 DEAF1 DNM1L EBF3 ELP1 FBN1 FLII GABBR2 GDAP1 GJB1 GNB4 GRIA3 H19 HARS1 HDAC4 HERC2 HK1 HNRNPK HSPB1 IARS2 IGF2 IL6ST IQSEC2 JAG1 KCNQ1OT1 KDM5C LIFR LMX1B MADD MAGEL2 MCM3AP MECP2 MFN2 MKRN3 MPV17 MPZ NEFL NGF NGLY1 NPAP1 NTNG1 NTRK1 PDK3 PDXK PMP2 PMP22 PNPT1 PRDM12 PRPS1 PWAR1 PWRN1 RAI1 RFX7 SCN11A SCN9A SCYL1 SH3TC2 SHANK3 SMC1A SNORD115-1 SNORD116-1 SORD SPTLC1 SPTLC2 TDP1 TMEM218 TRIO TRPM3 UBTF VCP ZEB2 ZFHX2 HP_IMPAIRED_PLATELET_AGGREGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PLATELET_AGGREGATION ABCG8 ACTN1 AP3B1 BLOC1S3 BLOC1S5 CALR CISD2 DIAPH1 DTNBP1 EPHB2 FLI1 GATA1 GFI1B GP1BA GP1BB GP6 GP9 HPS3 HPS5 HPS6 IKZF5 ITGA2B ITGB3 KCNJ1 LCP2 MGAT2 MYH9 NBEAL2 P2RY12 PLA2G4A PLAU RASGRP2 RUNX1 SH2B3 TBXA2R THPO TUBB1 VWF HP_IMPAIRED_PROPRIOCEPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PROPRIOCEPTION AARS1 ABCD1 ALDH18A1 AMPD2 APTX ARSI ATL1 ATN1 ATP13A2 ATP1A1 ATXN1 ATXN2 ATXN3 ATXN8OS B4GALNT1 BEAN1 BSCL2 CACNA1G CADM3 CAMTA1 CHCHD10 CHP1 CPT1C CYP7B1 DARS2 DCAF8 DDHD1 DHH DHTKD1 DNAJC3 EGR2 ERBB3 ERLIN2 FAR1 FGF14 FLRT1 FLVCR1 FMR1 FXN GARS1 GBA2 GCH1 GDAP1 GNB4 GPI HARS1 HAX1 HINT1 HK1 HSPD1 IMPDH2 IRF2BPL JAG1 KCNC3 KCND3 KIF1A KIF5A KLC2 KLHL9 KNSTRN KPNA3 LITAF LMNB1 LRSAM1 MAG MFN2 MORC2 MPZ MT-ATP6 MT-TE MTRFR MTTP NAGLU NDRG1 NEFH NEFL NGF NIPA1 NOP56 NR4A2 OPA3 PDK3 PDXK PDYN PEX10 PEX6 PI4KA PIEZO2 PIK3CD PLD3 PLEKHG4 PLOD1 PMP2 PMP22 PNKP PNPT1 POLG POLR3A POLR3B POU4F1 PRDM12 PRKCG PRORP PRX REEP1 REEP2 RFC1 RIPOR2 RNASEH1 RNF170 RTN2 SACS SAMD9L SAR1B SCN9A SCO2 SCP2 SETX SH3TC2 SLC12A6 SLC25A15 SLC33A1 SORD SPART SPAST SPG11 SPG7 SPTBN2 SPTLC1 SPTLC2 STUB1 SYNE1 TBP TDP1 TGM6 TPP1 TTPA TTR TWNK UBAP1 UCHL1 VAMP1 VCP VPS13A VPS13D VPS37A VPS41 WASHC5 WDR48 XK XRCC1 ZFYVE26 HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY BSND CEP290 CLCNKA CLCNKB FAM20A NPHP1 HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION GP1BA GP1BB GP6 GP9 IKZF5 ITGA2B ITGB3 HP_IMPAIRED_SMOOTH_PURSUIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SMOOTH_PURSUIT ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS CACNA1A DPM2 EEF2 ELOVL4 FGF14 FTL GNB1 INPP5E ITPR1 KCND3 KCNN2 MAN2B1 MRE11 NOP56 PAFAH1B1 PDHB PEX10 PLA2G6 POLR3B PRNP RARS1 RFC1 SACS SPTBN2 STT3A STXBP1 SYNE1 SYT14 TBCD THG1L TMEM216 TSEN54 TULP1 WARS2 XRCC4 HP_IMPAIRED_SOCIAL_INTERACTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SOCIAL_INTERACTIONS ACOX1 ADNP ALG11 AP2M1 CDKL5 CHD2 CHMP1A CLTC CNTNAP2 CREBBP DLK1 DNAJC6 EP300 EXTL3 FMR1 FOXG1 GABBR2 GFM2 GRIK2 GRIN1 HERC1 HTRA2 IQSEC2 LINGO1 LRRK2 MAN2C1 MBD5 MECP2 MED12 MEG3 NEXMIF NF1 NLGN1 NTNG1 OPHN1 PARK7 PINK1 PLA2G6 PODXL POLA1 PRKN PUS3 RTL1 SCN1A SH2B1 SHANK3 SLC2A1 SLC6A1 SLC6A8 SMC1A SNCA SNRPN SPTBN1 SYNGAP1 SYNJ1 TBR1 TET3 TRIM8 TTC19 TUBB3 UCHL1 VPS13C WARS2 ZMYND11 HP_IMPAIRED_TACTILE_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TACTILE_SENSATION ADA2 ATL1 ATL3 ATP13A2 ATXN1 BSCL2 CLTCL1 DCAF8 DDHD1 DHH GALC GDAP1 HARS1 HK1 KLHL9 KRT1 KRT16 KRT9 MORC2 MPV17 MTRFR NARS1 NDRG1 PLEKHG4 PMP22 PNPT1 POLG RAB7A RNF170 SACS SCN9A SETX SPTLC1 SPTLC2 TWNK VCP VWA1 HP_IMPAIRED_TANDEM_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TANDEM_GAIT ATP6AP2 COQ5 FMR1 GDAP1 ITPR1 JAG1 KCNN2 MTRFR PCDH15 PLOD1 SLC35C1 TBC1D24 HP_IMPAIRED_TEMPERATURE_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TEMPERATURE_SENSATION ABCA1 AEBP1 ATL1 ATL3 ATP1A2 CACNA1A HEXB HPGD HSPB1 JAG1 KRT1 KRT16 KRT9 LMX1B MAGEL2 MFN2 NDN NGF NTRK1 OCA2 PMP22 PRDM12 PRRT2 RNF170 SCN1A SCN9A SIM1 SLCO2A1 SNRPN SPTLC1 SPTLC2 TGM1 ZFHX2 HP_IMPAIRED_T_CELL_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_T_CELL_FUNCTION AK2 ARVCF CD19 CD3E COG6 COMT CR2 CTPS1 DGCR2 DGCR6 DGCR8 ESS2 GP1BB HIRA ICOS JMJD1C LIG1 MRTFA PNP RASGRP1 RREB1 SEC24C SLC39A4 SMARCAL1 TBX1 TGFB1 TNFRSF13B TNFRSF13C UFD1 UMPS WIPF1 HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES ABCD1 ALDH18A1 AMPD2 B4GALNT1 CACNA1G GBA2 KCND3 PRKCG REEP2 SPART SPAST UCHL1 XK HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS ABCD1 ALDH18A1 AMPD2 ARSI ATL1 B4GALNT1 BSCL2 CACNA1G CPT1C CYP7B1 DARS2 ERLIN2 FAR1 FLRT1 FLVCR1 GBA2 GCH1 HARS1 HINT1 HSPD1 IMPDH2 KCND3 KIF5A KLC2 KLHL9 KPNA3 MT-ATP6 NIPA1 NR4A2 PDK3 PDYN PEX6 PMP22 POLR3A PRKCG REEP2 RTN2 SACS SAMD9L SCO2 SLC33A1 SPART SPAST SPG11 SPG7 SPTLC2 TDP1 UBAP1 UCHL1 VAMP1 VCP WASHC5 WDR48 XK HP_IMPAIRED_VIBRATORY_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATORY_SENSATION ABCD1 ALDH18A1 AMPD2 APTX ARSI ATL1 ATP13A2 ATP1A1 ATXN1 ATXN2 ATXN3 ATXN8OS B4GALNT1 BEAN1 BSCL2 CACNA1G CADM3 CHCHD10 CHP1 CPT1C CYP7B1 DARS2 DCAF8 DDHD1 DHH DHTKD1 EGR2 ERBB3 ERLIN2 FAR1 FGF14 FLRT1 FLVCR1 FMR1 FXN GARS1 GBA2 GCH1 GDAP1 GNB4 HARS1 HAX1 HINT1 HK1 HSPD1 IMPDH2 JAG1 KCNC3 KCND3 KIF1A KIF5A KLC2 KLHL9 KPNA3 LMNB1 LRSAM1 MAG MFN2 MORC2 MPZ MT-ATP6 MT-TE MTRFR MTTP NAGLU NDRG1 NEFH NEFL NGF NIPA1 NOP56 NR4A2 PDK3 PDXK PDYN PEX10 PEX6 PI4KA PLEKHG4 PLOD1 PMP2 PMP22 PNKP PNPT1 POLG POLR3A POLR3B PRDM12 PRKCG PRORP PRX REEP1 REEP2 RNF170 RTN2 SACS SAMD9L SAR1B SCO2 SCP2 SETX SH3TC2 SLC12A6 SLC25A15 SLC33A1 SORD SPART SPAST SPG11 SPG7 SPTBN2 SPTLC2 SYNE1 TDP1 TPP1 TWNK UBAP1 UCHL1 VAMP1 VCP VPS13A VPS37A WASHC5 WDR48 XK XRCC1 ZFYVE26 HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION ABCD1 BPTF CACNA1H DARS2 ELN GABRA1 GABRB3 GABRG2 HTT JRK KCNC3 MAPT MLXIPL MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NF1 NOTCH3 PMPCA POMT1 PRKAR1B PSMD12 SLC2A1 SLC2A3 HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING AARS2 ABCA7 ABCB11 ABCB4 ABCC9 ACSL4 ADCY5 ADGRV1 ADH1C ADNP AFG3L2 AGO1 AIP AKT1 ALAD ALDH4A1 ALDH5A1 ALG14 ALG9 AMACR ANG ANXA11 AOPEP AP1G1 AP2S1 APC2 AR ARID2 ARMC5 ARSA ARSG ARVCF ASH1L ATP13A2 ATP1A2 ATP1A3 ATP2A2 ATP7B ATP8B1 ATP9A ATRX ATXN10 ATXN2 ATXN8OS B4GALNT1 BANK1 BAP1 BAZ1B BCL11B BCL7B BCR BCS1L BLK BMPR1A BPTF BRAF BRD4 BSND BUD23 C19orf12 C4A C4B C9orf72 CABP4 CACNA1A CACNA1G CACNA1H CACNA1I CARS1 CASR CBS CCND1 CCNF CDC42BPB CDH2 CDH23 CDKL5 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEP78 CEP85L CFAP410 CFTR CHCHD10 CHCHD2 CHD2 CHD7 CHD8 CHMP2B CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIB2 CIC CISD2 CIZ1 CLCA4 CLCN3 CLCN4 CLCNKA CLCNKB CLIP2 CLN3 CLN5 CLN6 CLRN1 CLTRN COASY COL7A1 COMT COQ2 CPOX CR2 CREBBP CRH CRKL CSF1R CTLA4 CTNNB1 CTSF CUL4B CUX2 CYP27A1 DAO DCTN1 DCTN4 DDB1 DDC DEAF1 DENND5A DEPDC5 DGCR2 DGCR6 DGCR8 DGUOK DISP1 DLAT DLL1 DLST DNA2 DNAJC13 DNAJC30 DNAJC5 DNAJC6 DNASE1 DNM1 DNMT1 DNMT3A DPH1 DPH2 DRD2 DUSP6 DYRK1A EDNRA EHMT1 EIF2AK1 EIF2B1 EIF4G1 EIF4H ELN ELP1 EMC10 EP300 EPAS1 EPCAM EPHA4 EPM2A ERBB4 ESPN ESS2 ETS1 FA2H FAN1 FCGR2B FCGR3B FGF14 FGF17 FGF8 FGFR1 FH FIG4 FKBP5 FKBP6 FLI1 FLII FLT4 FMO3 FMR1 FOCAD FOXG1 FOXH1 FOXP1 FRMD5 FTL FTSJ1 FUS GABBR2 GABRA1 GABRB3 GABRD GABRG2 GALC GALT GAS1 GBA1 GCH1 GCLC GDAP2 GIGYF2 GLA GLE1 GLI2 GLT8D1 GLUD2 GM2A GNA11 GNAS GNB1 GNRH1 GNRHR GP1BB GPR101 GPR35 GRIA1 GRIK2 GRIN2A GRN GSN GSTM3 GTF2I GTF2IRD1 GTF2IRD2 H1-4 HARS1 HCN1 HDAC8 HECTD4 HEXB HFE HIRA HIVEP2 HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HMOX1 HNRNPA1 HNRNPH2 HS6ST1 HSPG2 HTR2A HTRA1 HTRA2 HTT IDUA IFNG IGF1R IGHG1 IL10 IMPDH2 IQSEC2 IRAK1 IRF4 IRF5 IRF6 ITGAM JAZF1 JMJD1C JPH3 JRK KANSL1 KCNJ2 KCNN2 KCNN4 KCNT1 KCTD17 KIAA0319L KIF15 KIF1B KISS1 KISS1R KMT2A KMT2B KMT2E KPTN KRAS LARP7 LAS1L LEPR LGI1 LGI3 LIMK1 LMNB1 LRRK2 MAMLD1 MAN2B1 MAPK1 MAPK10 MAPK8IP3 MAPT MATR3 MAX MBD5 MDH2 MECP2 MED12 MED12L MEN1 METTL27 MIF MIR17HG MLH1 MLH3 MLXIPL MMP1 MSH2 MSH6 MST1 MSTO1 MSX1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MTPAP MYO7A NAGS NCF1 NDP NECTIN1 NEFH NEK1 NEXMIF NF1 NF2 NFASC NFIB NFIX NHLH2 NHLRC1 NIPBL NKX2-1 NODAL NONO NOTCH3 NR1H4 NR3C1 NR4A2 NSD1 NSD2 NSMF NTNG1 NTRK1 OCRL OPTN P4HA2 PAH PAK3 PANK2 PARK7 PCDH15 PCDH19 PDCD1 PDCD6IP PDE10A PDE11A PDGFB PDGFRB PDZD7 PER2 PER3 PFN1 PGK1 PHF21A PHGDH PHIP PIDD1 PIGS PIK3CA PINK1 PLA2G6 PLCH1 PLP1 PMS1 PMS2 PODXL POGZ POLG POLG2 PON1 PON2 PON3 PPARGC1A PPM1D PPOX PPP1CB PPP2R2B PPT1 PQBP1 PRKACA PRKAR1A PRKAR1B PRKCG PRKN PRNP PROK2 PROKR2 PRPH PRR12 PSAP PSAT1 PSEN1 PSMD12 PTCH1 PTPN22 PTS PURA PXK RAD21 RAI1 RBM12 RELN RET RFC2 RFX7 RIMS2 RLIM RNF125 RNF168 RORA RPS20 RPS6KA3 RREB1 RRM2B SARDH SATB2 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4A SEMA4D SERPINA1 SETBP1 SETD1A SETD1B SETD2 SETD5 SGCE SHH SHQ1 SIN3A SIX3 SLC11A1 SLC18A2 SLC19A3 SLC1A3 SLC20A2 SLC25A11 SLC25A4 SLC26A9 SLC2A1 SLC2A3 SLC35C1 SLC39A4 SLC45A1 SLC6A14 SLC6A17 SLC6A19 SLC6A4 SLC7A6OS SLC9A3 SLITRK2 SMARCB1 SMARCE1 SMC1A SMC3 SMC5 SMO SMPD1 SNCA SNCAIP SNORD118 SNRPN SOD1 SOX5 SPART SPAST SPECC1L SPG11 SPG21 SPP1 SPRY4 SPTBN1 SQSTM1 SRCAP SRPX2 STAG2 STAT4 STEEP1 STIL STUB1 STX16 STX1A STX1B SUFU SYNJ1 TAC3 TACR3 TAF1 TAF15 TANC2 TARDBP TBC1D2B TBC1D7 TBCK TBK1 TBL2 TBP TBX1 TCF12 TCF20 TCF4 TDGF1 TDO2 TERT TET3 TGFB1 TGFBR2 TGIF1 THOC2 TK2 TLK2 TLR7 TMCO1 TMEM106B TMEM127 TMEM147 TMEM270 TNFAIP3 TNFSF4 TNIK TNIP1 TOR1A TP53 TP63 TPH2 TRAF7 TRANK1 TREM2 TREX1 TRHR TRIP12 TSC1 TSC2 TSHB TTC19 TTR TUBB3 TWNK TYROBP UBE2L3 UBQLN2 UCHL1 UFD1 UNC13A UQCRC1 USH1C USH1G USH2A USP48 USP8 VAPB VCP VHL VPS13A VPS13C VPS16 VPS35 VPS37D WAC WARS2 WDR11 WDR45 WFS1 WHRN XK XPR1 YWHAG YY1 ZBTB20 ZFYVE26 ZIC2 ZNRF3 HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING ABCD1 ACSF3 ADNP AKT1 ALDH18A1 ALMS1 ALS2 AP5Z1 ARSA ARVCF ARX ATL1 ATL3 ATP13A2 ATXN10 ATXN2 ATXN8OS AUH BAP1 BCR BIN1 BNC2 CABP4 CACNA1G CACNA1H CAPN1 CCL2 CDKN1A CDKN1B CDKN2B CDKN2C CFAP43 CHMP2B CHRNA2 CHRNA4 CHRNB2 CLCNKB COG5 COL2A1 COMT COPB1 COQ2 CPT1C CRH CRKL CYP7B1 DACT1 DDHD2 DEPDC5 DKK1 DMPK DNM2 DNMT1 DPH5 DPYSL5 DSTYK EIF2AK2 EXT2 FA2H FAR1 FARS2 FGFR3 FITM2 FLVCR1 FMR1 FRMD5 FUS FUZ GAA GABRA1 GABRB3 GABRG2 GALC GALNT2 GBA2 GBE1 GGT1 GJC2 GP1BB HACE1 HEXB HIRA HLA-DQB1 HLA-DRB1 HMBS HPSE2 HS6ST2 HSPD1 HTRA1 IFT57 IGHMBP2 ISL1 JMJD1C JRK KCNC3 KCND3 KCNT1 KIF5A KMT2B KY LMNB1 LRIG2 MAPK1 MAPK8IP3 MEN1 MNX1 MORC2 MTMR14 MYF6 MYO1H NEFL NEXMIF NF2 NGF NIPA1 NOP56 NOTCH2NLC NOTCH3 PANK2 PDCD1 PDGFB PDGFRB PEX11B PIGF PIK3CA PLP1 POLR3B POT1 PRDM8 PSAP RETREG1 RNF170 RREB1 RSRC1 RTN2 RYR1 SACS SALL1 SBF1 SCN4A SCN9A SEC24C SIGMAR1 SLC12A3 SLC1A4 SLC20A2 SLC2A1 SLC44A1 SLC9A6 SMARCB1 SMARCE1 SMO SPAST SPG11 SPG7 SPTLC1 SPTLC2 SQSTM1 STUB1 SUFU SYNE1 TBCD TBP TBX1 TBXT TERT TIMM50 TP63 TRAF7 TRIO TRPV4 TTR TYROBP UBAP1 UFD1 VANGL1 VANGL2 VCP WASHC5 ZC4H2 ZEB2 ZFYVE26 ZMYM2 HP_IMPOTENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPOTENCE ABCD1 AIP AKT1 ATXN8OS BAP1 BMP2 CACNA1G CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COQ2 DUSP6 FGF17 FGF8 FGFR1 FMR1 GNRH1 GNRHR GPR101 GUCY1A1 HAMP HEXB HFE HJV HS6ST1 KISS1 KISS1R LMNB1 MEN1 NF2 NHLH2 NSMF PDGFB PIGA PIK3CA PROK2 PROKR2 SACS SLC40A1 SMARCB1 SMARCE1 SMO SPRY4 SUFU TAC3 TACR3 TERT TFR2 TRAF7 TTR WDR11 HP_IMPULSIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPULSIVITY AARS1 ACTL6B ADAT3 AFF2 AMT AP3B2 ARPC4 ARV1 ATP1A2 ATP1A3 ATP6V1A BCORL1 C19orf12 CACNA1A CACNA1B CACNA2D1 CDH2 CDK19 CDON CELF2 CEP152 CLTC CNKSR2 COQ5 CREBBP CYFIP2 DALRD3 DEPDC5 DHDDS DISP1 DLL1 DNAJC13 DNAJC6 DNM1 DNMT1 DPYSL5 EEF1A2 EIF4G1 EP300 FBXO28 FBXW11 FGF12 FGF13 FGF8 FOXH1 FUZ FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GAS1 GBA1 GIGYF2 GLDC GLI2 GNB2 GRIK2 GRIN2A GRIN2D H4C5 HCN1 HEPHL1 HIVEP2 HTRA2 IFNG IL1RAPL1 KANSL1 KCNA2 KCNB1 KNL1 LGI1 LRRK2 MAGEL2 MAOA MAPT NAA20 NECAP1 NFIB NODAL NONO NTRK1 NTRK2 NUS1 PACS2 PANK2 PARK7 PARS2 PCDH19 PHIP PINK1 PLA2G6 PODXL POLA1 PPP3CA PRKN PTCH1 PTCHD1 RELN SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH SIX3 SLC13A5 SLC1A2 SLC1A3 SLC38A3 SNCA SPEN SPTBN1 SRCAP STIL SUGCT SYNGAP1 SYNJ1 SZT2 TDGF1 TGIF1 TMEM240 TRAK1 TSC1 TSC2 UBA5 UBTF UCHL1 USP7 VANGL1 VPS13C VPS16 VPS35 WDR62 WWOX YWHAG ZIC2 HP_INABILITY_TO_WALK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INABILITY_TO_WALK ABCD1 ABHD16A ACTB ACTL6B ADAM22 ADAR ADSL ADSS1 AGTPBP1 AIMP2 ALDH18A1 ALS2 AP4B1 AP4E1 AP4S1 APTX ARL6IP1 ASAH1 ASPA ASXL1 ASXL3 ATAD3A ATL1 ATL3 ATM ATN1 ATP6AP2 ATP6V1A ATP8A2 BCAS3 BVES C19orf12 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1I CACNA2D2 CAMK2A CAMK2B CDKL5 CDON CELF2 CHCHD10 CHKA CHRND CLDN11 CLIC2 CLN3 CLN5 CLN8 CLTC CNPY3 COPB1 COPB2 COQ2 CPLX1 CRAT CRPPA CTBP1 CTNNA2 DARS2 DCPS DES DHX30 DISP1 DLL1 DMD DNAJB6 DNAJC6 DNM1 DNM1L DOCK7 DOHH DPAGT1 DPYD DSTYK DYM DYNC1I2 DYSF EIF2AK2 EIF2B3 EIF2B5 EIF2S3 EMD EPM2A EPRS1 ERBB4 ERLIN2 EXOSC5 EXT2 EXTL3 FA2H FAR1 FARS2 FCSK FGF12 FGF8 FGFR1 FHL1 FKRP FLNC FOXH1 FOXRED1 FUS FXN GABBR2 GABRA2 GABRB2 GALC GAS1 GDAP1 GEMIN4 GEMIN5 GFM2 GGPS1 GIPC1 GLE1 GLI2 GLRX5 GMPPB GNAO1 GNB1 GNPTAB GOSR2 GOT2 GPAA1 GRIA2 GRIA4 GRIK2 GRIN1 GRM1 GSX2 GTPBP2 HACE1 HINT1 HK1 HNRNPA1 HNRNPH1 HNRNPK HSD17B10 HTT HYCC1 INTS1 INTS8 IRF2BPL JAG2 KCNJ10 KCNQ2 KCNT1 KIF1A KLC2 KLHL9 LAMA2 LARGE1 LDB3 LETM1 LMNA LMX1B LNPK LONP1 LRP12 LRP5 LRPPRC LYRM7 LYST MAFB MAG MAGEL2 MAPK8IP3 MAPT MARS2 MAST1 MBOAT7 MCM3AP MDH2 MECP2 MECR MED25 MEF2C MFF MFN2 MFSD2A MORC2 MPV17 MPZ MRPS34 MSTO1 MT-ATP6 MT-TE MTM1 MTRFR MYH7 MYOT NDRG1 NDUFA6 NEB NEFL NEU1 NEUROD2 NGLY1 NHLRC1 NODAL NOTCH2NLC NTNG1 NTNG2 NTRK2 NUP54 NUP62 OGDHL OPTN OTUD6B P4HTM PANK2 PDHA1 PEX1 PEX16 PGAP2 PGAP3 PIEZO2 PIGA PIGP PIGS PLA2G6 PLCB1 PLCH1 PLEC PLP1 PMP22 PMPCB PODXL POLR3A POLR3B POMT1 POMT2 POT1 PPP1R21 PPP2R1A PRUNE1 PRX PSAP PSMB1 PSMC1 PTCH1 PURA PYCR2 RAB18 REPS1 RHOBTB2 RILPL1 RNASEH1 RPL10 RRM2B SAMD9L SATB1 SBF1 SBF2 SCN1A SCN2A SCN3A SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SELENON SERAC1 SGCB SGCG SH3TC2 SHH SIGMAR1 SIX3 SLC12A5 SLC12A6 SLC16A2 SLC17A5 SLC19A3 SLC1A2 SLC1A4 SLC25A22 SLC25A4 SLC2A1 SLC2A3 SLC33A1 SLC35A2 SLC38A3 SLC39A14 SLC39A8 SLC6A17 SLC9A6 SMC1A SMN1 SMN2 SMPD1 SMS SNCA SNX14 SPATA5 SPG11 SPTLC1 SPTLC2 ST3GAL3 STAC3 STAG2 STIL STRADA STXBP1 SUCLA2 SYNE1 SYNJ1 SYT1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCK TBR1 TDGF1 TELO2 TFG TGIF1 TGM6 TIMM8A TK2 TMEM107 TMEM231 TNPO2 TNR TOR1A TRAPPC11 TRAPPC2L TREX1 TRIM2 TRIM32 TRIP4 TRPM3 TSEN15 TUBB3 TWNK UBE4A UBTF UCHL1 UNC80 UQCRQ VAC14 VAMP2 VAPB VARS1 VCP VPS13A VPS16 VPS33A VPS41 VPS51 WARS1 WDR45B ZC4H2 ZEB2 ZIC2 ZNF526 HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION HESX1 LHX3 LHX4 MOGS POU1F1 PPOX PROP1 SP110 HP_INAPPROPRIATE_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_BEHAVIOR ALG9 ATP7B CDKL5 CHMP2B DCTN1 FOCAD FOXG1 GABBR2 GALC GM2A GNAS GRN IQSEC2 KIF15 MAPT MECP2 NTNG1 PHGDH PIDD1 PIGS PRKAR1B PSAP PSAT1 PSEN1 SLC18A2 SLC19A3 SMC1A SQSTM1 TBC1D2B TDO2 TMEM106B TRANK1 TREM2 TYROBP VCP VPS13A HP_INAPPROPRIATE_CRYING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_CRYING ALG9 CDKL5 FOCAD FOXG1 GABBR2 GALC IQSEC2 KIF15 MECP2 NTNG1 PHGDH PIGS PSAP PSAT1 SLC18A2 SLC19A3 SMC1A TBC1D2B HP_INAPPROPRIATE_LAUGHTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_LAUGHTER ADSL ATP10A ATRX CDKL5 CSF1R DYRK1A GABBR2 GATAD2B GLI3 GRIK2 GRIN1 HSD17B10 KANSL1 MAPT MBD5 MECP2 NOVA2 NTNG1 NTNG2 OCA2 PDE2A PGAP1 PIGS PSEN1 SLC6A17 SLC9A6 SMC1A SNRPN TBC1D2B TELO2 UBE3A WDR4 HP_INAPPROPRIATE_SEXUAL_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_SEXUAL_BEHAVIOR ATP7B GNAS GRN MAPT PSEN1 TDO2 TRANK1 HP_INCISOR_MACRODONTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCISOR_MACRODONTIA ABCC9 ATP6V1B2 BRF1 CACNA1I COL11A1 CTCF FARS2 GJA1 GRIA3 KCNK9 KCNMA1 PACS2 PURA TBC1D24 VPS13B HP_INCOMITANT_STRABISMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMITANT_STRABISMUS ACKR3 ARX CCNQ CEP120 CHN1 COL25A1 CSPP1 DNM1L GJA5 GJA8 HOXA1 KCNN2 KIAA0586 MAFB MED13 MN1 NSMF OPA1 PIEZO2 SALL1 SALL4 UBA2 ZMIZ1 HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II EYA1 FOXI1 HAAO KCNJ10 ORC1 PI4KB SIX1 SLC26A4 HP_INCOMPREHENSIBLE_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPREHENSIBLE_SPEECH CC2D1A FOXP2 FXN GATAD2B GRIN2A SATB2 SETBP1 SRPX2 YME1L1 HP_INCOORDINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOORDINATION AASS ABCA2 ABCD1 ACOX1 ACTA1 ADAR ADCY5 ADGRV1 ADSS1 AFF2 ALG13 ALG14 ALG2 ALMS1 APC2 ARG1 ARHGEF2 ARL6 ARSA ASAH1 ATL1 ATP1A3 ATP2B3 ATP6AP2 ATP7B ATP9A ATXN10 ATXN3 ATXN8OS B4GALNT1 BBS1 BSCL2 BSND CACNA1A CAPN3 CARS1 CAV3 CCDC28B CCDC78 CDC42BPB CFL2 CHAMP1 CHD8 CHP1 CLCNKA CLCNKB CLN5 CLN8 CLTC COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COX20 CPLX1 CREBBP CRPPA CWF19L1 DAB1 DARS2 DCC DEAF1 DNAJC13 DNAL4 DPAGT1 DYM DYNC1H1 DYRK1A EED EEF1A2 EEF2 EIF4G1 ELN ELP1 EP300 ERCC4 FA2H FHL1 FIG4 FKRP FKTN FRRS1L GABRA1 GABRD GABRG2 GALC GALT GBA1 GCH1 GDAP1 GDAP2 GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GOSR2 GPHN GRID2 GRIN2A GRM1 HADHA HADHB HAX1 HCN1 HEPACAM HEXB HINT1 HLA-DQB1 HLA-DRB1 HNRNPA1 HSD17B10 HTT HUWE1 ISCU KBTBD13 KCNA1 KCNC3 KCND3 KDM4B KIF1C KLHL41 LAMB2 LMBRD1 LMNB2 LRRK2 LYST LZTFL1 MAN2B1 MAPT MECR MED13L MFN2 MICU1 MLXIPL MORC2 MPZ MRE11 MT-ATP6 MT-TE MTFMT MTHFR MTPAP MTR MYPN NAA20 NADK2 NDRG1 NDUFA1 NEB NEFH NEFL NIPA1 NIPA2 NKX2-1 NOL3 NOP56 NR4A2 NSD1 NTN1 NUDT2 NUP54 NUP62 OPA1 PAK3 PANK2 PCDH19 PDCD1 PDE10A PDE2A PEX1 PEX16 PI4KA PIK3R5 PLA2G6 PLEC PMP2 PMP22 PMPCA POGZ POLG POLG2 POLR3A POLR3B POMT1 PRNP PSAP PYROXD1 RAD51 RDH11 REEP1 RNF125 RNF168 RNU12 RORA RPIA RPL10 RRM2B RYR3 SCN1A SCN1B SCN2A SCN4A SCN9A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SET SETD2 SGCA SGCG SH3TC2 SIM1 SLC12A6 SLC18A2 SLC19A3 SLC22A5 SLC25A1 SLC25A15 SLC25A4 SLC25A42 SLC2A3 SLC39A14 SLC52A2 SLC52A3 SLC6A8 SMG9 SNCA SNRPN SPG21 SPTBN2 SPTLC1 SQSTM1 STIM1 STX1B SYNE1 SYNGAP1 TAF1 TANGO2 TBC1D23 TBC1D24 TCF20 TCF4 TGM6 TIA1 TPM2 TPM3 TPP1 TPR TRANK1 TSHB TTC19 TTN TTPA TUBG1 TWNK TXN2 UBE3A VCP VPS13D VPS35 VWA1 YWHAG HP_INCREASED_ADIPOSE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ADIPOSE_TISSUE AKT2 CHCHD10 INPP5K LIPE LMNA MC4R MT-TK PCSK1 POLR3A POMC HP_INCREASED_ARM_SPAN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ARM_SPAN APC2 DLG4 FBN1 NSD1 SETD2 TGFB3 TRAPPC2 HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE AASS GUCY2D NADK2 SLC1A1 SLC3A1 SLC7A7 SLC7A9 HP_INCREASED_BODY_MASS_INDEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_MASS_INDEX CORIN FLT1 STOX1 THOC2 THRA HP_INCREASED_BODY_WEIGHT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_WEIGHT ABCA4 ABCB4 ABCC8 ABCC9 ABHD5 ACADVL ADCY3 ADGRL1 ADNP ADRB3 AFF4 AGBL5 AGRP AHI1 AHR AIP AKT1 AKT2 ALB ALMS1 ANK3 ANOS1 AP1S3 AP4B1 AP4E1 AP4M1 AP4S1 APOE APPL1 ARHGEF18 ARL13B ARL2BP ARL3 ARL6 ARMC5 ARNT2 ARVCF ASH1L ATP10A ATP6AP2 ATP7B ATRX BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BDNF BEST1 BIN1 BLK BLM BPTF BRAF BRD4 BUD23 CA4 CACNA1S CANT1 CARTPT CASZ1 CC2D2A CCDC141 CCDC28B CD46 CDH23 CDHR1 CDKN2A CEL CELA2A CEP164 CEP19 CEP290 CERKL CFAP410 CFAP418 CFH CFI CHD7 CHD8 CLIP2 CLRN1 CNGA1 CNGB1 CNNM2 CNTNAP2 COA3 COL10A1 COMT COPB1 CPE CRB1 CREBBP CRX CTNNB1 CTSH CTSK CUL4B CYP19A1 CYP7A1 DCC DDB1 DDX6 DEAF1 DHDDS DHX38 DICER1 DIS3L2 DLK1 DMPK DNAJC30 DNM2 DNMT3A DPYD DUSP6 DYNC2I2 DYRK1B EDNRB EHMT1 EIF2S3 EIF4H ELN EMD ENPP1 EP300 ERMARD EXOC6B EYS FAM161A FBXO11 FEZF1 FGF17 FGF8 FGFR1 FGFR3 FHL1 FIBP FKBP6 FLII FLRT3 FMR1 FOXG1 FOXP1 FSCN2 FXR1 GABRA3 GABRD GATA4 GCK GHR GHRL GJA5 GJA8 GLI3 GNAI1 GNAS GNAS-AS1 GP1BB GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H6PD HACE1 HCRT HDAC4 HDAC8 HEATR3 HECTD4 HELLPAR HERC1 HERC2 HESX1 HGSNAT HIRA HLA-DQB1 HLA-DRB1 HNF1A HNF1B HNF4A HS6ST1 HSD11B1 HSPG2 IDH3A IDH3B IER3IP1 IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IGF1R IGFALS IGSF1 IL17RD IL36RN IMPDH1 IMPG1 IMPG2 INPP5E INS IQSEC2 JMJD1C KCNAB2 KCNJ11 KCNJ18 KDM6A KIAA1549 KIDINS220 KIZ KLF11 KLHL7 KMT2C KMT2D LARS2 LAS1L LEP LEPR LHX3 LHX4 LIMK1 LIPE LMNA LRAT LUZP1 LZTFL1 MAGEL2 MAK MAN1B1 MAPK8IP3 MC4R MCM3AP MECP2 MEF2A MEG3 MEGF8 MEN1 MERTK METTL27 MIA3 MKKS MKRN3 MKS1 MLXIPL MMP23B MOG MTFMT MTMR14 MTOR MYF6 MYT1L NCF1 NDN NDNF NDST1 NEK2 NEUROD1 NF2 NHLH2 NIN NIPBL NKAP NPAP1 NPHP1 NR0B2 NR2E3 NR3C1 NRL NSD1 NTRK2 OCA2 ODC1 OFD1 OTX2 P2RY11 P4HTM PAX4 PAX6 PCARE PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDGFB PDPN PDSS1 PDX1 PGM2L1 PHF21A PHF6 PHIP PHKA2 PHKB PHKG2 PIGA PIGL PIGN PIGT PIK3CA PKDCC PNKP PNPLA2 PNPLA6 POGZ POMC POMGNT1 POU1F1 POU3F4 PPARG PRCD PRDM16 PRKACA PRKAR1A PRKAR1B PRKCZ PRMT7 PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMD12 PTCH1 PTEN PWAR1 PWRN1 RAB23 RAD21 RAF1 RAI1 RBMX RBP3 RDH12 REEP6 RERE RFC2 RGR RHO RIT1 RLBP1 RNF135 RNPC3 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPS6KA3 RREB1 RTL1 RYR1 SAG SATB1 SCAPER SCLT1 SDC3 SDCCAG8 SEC24C SECISBP2 SEMA3A SEMA4A SETBP1 SETD1A SETD2 SH2B1 SH3KBP1 SHANK3 SHOC2 SHOX SIM1 SIN3A SKI SLC10A7 SLC25A4 SLC7A14 SLC7A7 SLC9A7 SMAD4 SMARCB1 SMARCE1 SMC1A SMC3 SMO SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOX10 SOX2 SOX3 SPATA7 SPEN SPG11 SPRY4 SPTBN1 SRY STEEP1 STX16 STX1A SUFU SUPT16H SYNE1 SYNE2 TACR3 TAF1 TAOK1 TBC1D2B TBL2 TBX1 TBX3 TCF20 TERT TFE3 THOC2 THRA THRB TMCO1 TMEM218 TMEM270 TMEM43 TMEM67 TMLHE TNFSF4 TOGARAM1 TOPORS TP53 TRAF3IP1 TRAF7 TRAPPC9 TRHR TRIM32 TRIP12 TRIP4 TTC8 TUB TULP1 UBE2A UBE3A UBE3C UBE4B UCP2 UCP3 UFD1 UNC45B USH2A USP48 USP7 USP8 VPS13B VPS37D WAC WDPCP WDR11 WNT4 WT1 XRCC4 XYLT1 YY1 ZBTB20 ZBTB7A ZNF365 ZNF408 ZNF513 ZNF711 ZNRF3 ZPR1 HP_INCREASED_BONE_MINERAL_DENSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BONE_MINERAL_DENSITY AARS1 ACP5 AGXT AMER1 ANKH ANO5 AP1S2 BAZ1B BCL7B BMP1 BUD23 CA2 CARS1 CLCN7 CLIP2 CSF1R CTSK DHCR24 DLK1 DLX3 DMP1 DNAJC30 DVL1 EBP EIF2AK3 EIF4H ELN ENPP1 ERCC2 ERCC3 ERCC6 ERCC8 FAM111A FAM20C FERMT3 FKBP6 FLNA GBA1 GJA1 GNAS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HGSNAT HHAT HMGA2 HSPG2 KARS1 KL LBR LEMD3 LIMK1 LMNA LPIN2 LRP4 LRP5 LRRK1 MAP2K1 MAP3K7 MC4R MEG3 METTL27 MITF MLXIPL MPLKIP MTAP NAGLU NCF1 NGLY1 NOTCH3 OSTM1 PHEX PLEKHM1 PTDSS1 PTH1R RBL2 RFC2 RNF113A RTL1 RUNX2 SCARB2 SETBP1 SGSH SIK3 SLC26A2 SLC29A3 SLC34A2 SLC39A14 SLC4A2 SNX10 SOST SQSTM1 SRCAP STX16 STX1A TARS1 TBCE TBL2 TBXAS1 TCIRG1 TGFB1 TMEM270 TMEM53 TNFRSF11A TNFRSF11B TNFSF11 TONSL TRAPPC2 TRPS1 VCP VPS37D WRN HP_INCREASED_B_CELL_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_B_CELL_COUNT CARD11 CASP10 FAS FASLG IKBKG NCKAP1L NFKBIA PRKCD PTPRC RASGRP1 HP_INCREASED_CEREBRAL_LIPOFUSCIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CEREBRAL_LIPOFUSCIN CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5 PPT1 PSAP TARS2 TPP1 HP_INCREASED_CIRCULATING_ACTH_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ACTH_LEVEL AIP ATRX BRAF CDH23 CYP11A1 CYP11B1 DAXX MC2R MRAP NNT NR3C1 POR TP53 USP48 USP8 HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION ALG6 ALMS1 AR CDKN2A CLN3 CTNNB1 CYP11B1 FSHR GNAS HSD3B2 INSR NR2F2 NR3C1 POLR3A PRKAR1A TERT TP53 WNT4 ZNRF3 HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL ADA ADAM17 AICDA ALB CARD10 CARD11 CARD9 CASP10 CCND1 CD247 CD3D CD3E CD40 CD40LG CDSN COL1A1 COL7A1 DCLRE1C DNMT3B DOCK8 DSG1 EGFR ELANE EXTL3 FAS FASLG FOXP3 GBA1 GPC3 GPC4 GPR35 GTF2H5 HLA-DRB1 IFIH1 IFNGR1 IKBKG IL12A IL12RB1 IL21 IL21R IL2RA IL2RB IL2RG IL4R IL6R IL6ST IL7R IPO8 IRAK4 IRF5 KLHDC8B KRAS KRT74 KRT9 LIG4 MMEL1 MS4A2 MST1 MUC5B MVK MYD88 NCKAP1L NFKBIA NLRP1 NRAS NSMCE3 OTULIN PEPD PGM3 PIK3CD PIK3R1 PLA2G7 POMP POU2AF1 PRKCD PSMB4 PSMB8 PSMB9 PSTPIP1 PTEN RASGRP1 SCARB2 SEMA4D SETX SFTPA2 SFTPC SH2D1A SLC7A7 SPIB SPINK5 SPPL2A STAT3 STAT5B STING1 TCF4 TERT TGFB1 TNFSF15 TNPO3 TPP2 TYK2 UNG VPS33A VPS45 WAS XIAP ZNF341 HP_INCREASED_CIRCULATING_CORTISOL_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL AIRE ARMC5 ATRX BRAF CBX2 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CTNNB1 CYP11B1 CYP11B2 GNAS HTR1A KCNJ11 MEN1 NR3C1 PDE11A PDE8B POR PRKACA PRKAR1A RET TERT TP53 USP48 USP8 ZNRF3 HP_INCREASED_CIRCULATING_CREATINE_KINASE_MB_ISOFORM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_CREATINE_KINASE_MB_ISOFORM DMD DSG2 FHL1 GAA SLC30A9 HP_INCREASED_CIRCULATING_FREE_FATTY_ACID_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_FREE_FATTY_ACID_LEVEL ACADVL AKT2 DOLK GLYCTK HADH HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL AR BMP15 BMPR1B BNC1 C14orf39 CATIP CBX2 CCDC34 CDH23 CFTR CLPP CNBP CT55 CYB5A CYP11A1 CYP17A1 DHH DHX37 DIAPH2 DMRT3 DNAH10 DNHD1 ERCC6 ESR1 ESR2 FANCM FBXO43 FGD1 FIGLA FKBP6 FMR1 FOXL2 FSHB FSHR GATA4 GCNA GDF9 HFM1 HSD17B4 KISS1R KLHL10 LARS2 LHB LHCGR MAP3K1 MCM8 MCM9 MEIOB MOV10L1 MRPS22 MSH4 MSH5 NANOS1 NR0B1 NR5A1 NSMCE2 NUP107 PDHA2 PNLDC1 POLA1 POLR3H POR PPP2R3C PSMC3IP RNF212 RPL10L SHOC1 SOHLH1 SOX9 SPAG17 SPIDR SRY STAG3 SYCE1 SYCP3 TAF4B TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 TP63 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZMYND15 ZSWIM7 HP_INCREASED_CIRCULATING_IGA_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGA_LEVEL CARD10 CASP10 CCND1 CD247 CD40LG FAS FASLG GTF2H5 IKBKG IL12A IL12RB1 IL7R IRF5 MMEL1 MVK NLRP1 OTULIN PGM3 POMP POU2AF1 PRKCD PSMB8 RASGRP1 SPIB STING1 TNFSF15 TNPO3 WAS HP_INCREASED_CIRCULATING_IGG_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGG_LEVEL CARD10 CASP10 CCND1 CD247 DOCK8 FAS FASLG IFIH1 IFNGR1 IKBKG IL2RB IL2RG IL7R IPO8 NCKAP1L NFKBIA NLRP1 PGM3 POMP PRKCD PSMB8 RASGRP1 STING1 TGFB1 TPP2 HP_INCREASED_CIRCULATING_IGM_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGM_LEVEL AICDA CASP10 CD247 CD40 CD40LG DNMT3B FAS FASLG GPR35 IFNGR1 IKBKG IL12A IL12RB1 IRF5 KLHDC8B MMEL1 MST1 MYD88 NFKBIA NSMCE3 OTULIN PGM3 PIK3CD PIK3R1 POU2AF1 PTEN RASGRP1 SEMA4D SH2D1A SPIB SPPL2A TCF4 TNFSF15 TNPO3 TPP2 UNG VPS33A XIAP HP_INCREASED_CIRCULATING_INSULIN_LIKE_GROWTH_FACTOR_1_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INSULIN_LIKE_GROWTH_FACTOR_1_CONCENTRATION AIP GPR101 IGF1R MEN1 PDE11A PRKAR1A HP_INCREASED_CIRCULATING_INTERFERON_GAMMA_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERFERON_GAMMA_CONCENTRATION ADAR ANKRD55 CD247 IFIH1 IL2RA IL2RB LSM11 PRF1 PSMB8 PTPN2 PTPN22 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 STAT4 STX11 STXBP2 TREX1 UNC13D HP_INCREASED_CIRCULATING_INTERLEUKIN_6_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERLEUKIN_6_CONCENTRATION ELF4 HMOX1 IL6R MEFV PRF1 PSMB8 SASH3 STX11 STXBP2 UNC13D HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION ABCG8 ACAD9 AIFM1 AKR1D1 ALDOA CALR CAV3 CBLIF CD46 CDAN1 CFH CFI CHEK2 CPT2 DHFR FLI1 GAA HBB HELLPAR HLA-DRB1 HMGCS2 HMOX1 IRAK1 JAK2 KCNN4 KIF23 KLF1 KY LARGE1 LIPA LPIN1 LYST MLIP MPL MT-CO1 MT-CO3 MTHFD1 MVK MYC NSUN2 OBSCN OCRL PEX2 PFKM PIEZO1 PIGA PIK3CG PITRM1 PLA2G6 PLEC PNPLA2 RB1 RHAG RHCE RHD RPS14 SAT1 SLC19A1 SLC25A13 SLC4A1 SLC7A7 SPP1 STAT4 STIM1 TCIRG1 TET2 TP53 USB1 VPS13A XK ZNFX1 HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION AIP AKT1 BAP1 BRAF CDH23 CTNNB1 GNAS GPR101 MEN1 MSTO1 NF2 PDE11A PDGFB PIK3CA PMM2 POLR3A PRKAR1A PRLR SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TRHR TSHB HP_INCREASED_CIRCULATING_RENIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_RENIN_LEVEL BSND CASR CLCNKA CLCNKB CYP11A1 CYP11B2 HSD3B2 INSR KCNJ1 KCNJ10 KCNJ16 MAGED2 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3 HP_INCREASED_CIRCULATING_THYROGLOBULIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_THYROGLOBULIN_LEVEL DUOX2 FOXI1 GLIS3 KCNJ10 PAX8 SLC26A4 SLC35A2 THRB TSHR HP_INCREASED_CIRCULATING_VERY_LONG_CHAIN_FATTY_ACID_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_VERY_LONG_CHAIN_FATTY_ACID_CONCENTRATION ABCD1 AMACR AP1S1 BCAP31 HSD17B4 PEX12 PEX14 PEX2 PEX6 REPS1 HP_INCREASED_CONNECTIVE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CONNECTIVE_TISSUE ACTA1 AIFM1 AKT2 ANO5 CHCHD10 DYSF GATA1 INPP5K KLHL40 KLHL41 LAMA2 LIMS2 LIPE LMNA LMOD3 MC4R MT-TK NEB NEFL PCSK1 PLEC POLR3A POMC RYR1 TCAP TNXB UROS HP_INCREASED_CORNEAL_THICKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CORNEAL_THICKNESS DCN FGF10 FGFR2 FGFR3 SLC4A11 HP_INCREASED_CSF_GLYCINE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_GLYCINE_CONCENTRATION AMT BOLA3 GLYCTK IBA57 NFU1 HP_INCREASED_CSF_INTERFERON_ALPHA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_INTERFERON_ALPHA ADAR IFIH1 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1 HP_INCREASED_CSF_LACTATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_LACTATE AIFM1 ALDH4A1 ATP5PO ATPAF2 CLPB COA8 COQ8A COX10 COX11 COX14 COX20 COX4I1 COX6B1 COX8A DARS2 DNM1L ECHS1 FARS2 FOXRED1 GFM1 GFM2 HPDL HSD17B10 HTRA2 IBA57 LONP1 LRPPRC LYRM4 LYRM7 MDH2 MECP2 MPV17 MRPS34 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT NADK2 NARS2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL PDHA1 PDHX PET100 PET117 PNPT1 RARS2 RMND1 RRM2B SCO2 SLC13A3 SLC25A19 SLC25A4 SLC2A1 SLC31A1 SLC39A8 SUCLA2 SUCLG1 SURF1 TIMM50 TIMMDC1 TMEM126B TPK1 TRAPPC12 TRMT10C TXN2 UQCC2 UQCC3 HP_INCREASED_CUP_TO_DISC_RATIO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CUP_TO_DISC_RATIO ASB10 CDH11 COL18A1 CYP1B1 EFEMP1 MYOC TEK TRAPPC12 HP_INCREASED_C_PEPTIDE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_C_PEPTIDE_LEVEL ABCC8 AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC FOS HADH HNF1A INSR KCNJ11 PPARG SLC25A36 UCP2 HP_INCREASED_DENSITY_OF_LONG_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_DENSITY_OF_LONG_BONES ANO5 CA2 CSF1R FLNA GNAS MTAP SETBP1 SOST STX16 TGFB1 TNFRSF11A TNFSF11 HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE ACTA1 ANO5 ANXA11 CACNA1S CHKB COL12A1 COL6A1 COL6A2 COL6A3 GIPC1 HNRNPA1 LAMA2 LARGE1 MAP3K20 MEGF10 MLIP MYL1 MYOT NOTCH2NLC POMGNT1 SELENON SGCA SGCG SLC12A6 SYNE1 TNPO3 TOR1AIP1 TRIP4 TTN HP_INCREASED_ERYTHROCYTE_PROTOPORPHYRIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ERYTHROCYTE_PROTOPORPHYRIN_CONCENTRATION ALAD ALAS2 CLPX GATA1 UROS HP_INCREASED_FECAL_PORPHYRIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FECAL_PORPHYRIN ALAD CPOX GATA1 UROD UROS HP_INCREASED_GLUTAMINE_FAMILY_AMINO_ACID_LEVEL_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_GLUTAMINE_FAMILY_AMINO_ACID_LEVEL_IN_URINE AASS LIPT1 SLC3A1 SLC7A7 SLC7A9 HP_INCREASED_HEAD_CIRCUMFERENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEAD_CIRCUMFERENCE ABCC9 ACADM ACADVL ACAN ACER3 ADGRG1 ADGRL1 ADK AFF2 AGGF1 AKT1 AKT3 ALDH1A2 ALG13 ALKBH8 AMER1 ANK3 ANKH ANKRD17 ANTXR2 AP1S2 APC APC2 ARL6 ARSB ASH1L ASPA ASXL2 B3GALNT2 B3GLCT B4GALT1 B4GALT7 B4GAT1 BBS1 BGN BICD2 BICRA BIN1 BLTP1 BMP2 BMPR1A BRAF BRWD3 CACNA1E CAMK2A CAMK2G CAMTA1 CC2D2A CCDC22 CCDC28B CCND2 CCNK CDC42BPB CDCA7 CDH2 CDKN1C CDON CEP120 CHD1 CHD3 CHD4 CHD8 CHRNA7 CLCN3 CLCN4 CLCN7 CLIC2 CNTNAP2 COL2A1 COL4A1 CRADD CRPPA CSF1R CSGALNACT1 CTNNA2 CUL4B CWC27 D2HGDH DAG1 DEAF1 DHCR24 DICER1 DIS3L2 DISP1 DLK1 DLL1 DLL3 DMPK DNM2 DNMT3A DNMT3B DOCK3 DOCK6 DPH1 DPH2 DPYD DPYSL5 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EDN1 EED EIF2B1 EML1 ERF ERMARD ETFA ETFB ETFDH EXT2 EZH2 FAM111A FAM149B1 FAR1 FBN1 FBXO11 FBXW7 FGF8 FGFR1 FGFR2 FGFR3 FH FIBP FIG4 FKRP FKTN FLI1 FMR1 FOCAD FOXH1 FOXP1 FOXP2 FZD2 GABBR2 GAD1 GALC GAN GAS1 GCDH GFAP GJA1 GLI2 GLI3 GNAI3 GNAQ GNB1 GNB2 GNE GNS GPC3 GPC4 GRB10 GRIA3 GUSB H1-4 H19 H3-3A H3-3B HDAC4 HDAC6 HECTD4 HECW2 HELLS HEPACAM HERC1 HES7 HEXB HMGA2 HOXD13 HRAS HSD17B4 HUWE1 IDH1 IDS IDUA IFT43 IFT74 IFT80 IFT81 IGBP1 IGF2 IHH IL6ST INPP5E INPPL1 ITCH JARID2 KANSL1 KCNC2 KCNH1 KCNJ1 KCNJ8 KDM1A KDM5C KIF7 KLLN KMT2E KMT5B KPTN KRAS L1CAM L2HGDH LAMA5 LAMB1 LARGE1 LBR LFNG LMNA LRP2 LRP4 LRP5 LZTR1 MAB21L2 MACROH2A1 MAN1B1 MAN2B1 MAN2C1 MAP2K1 MAP2K2 MECP2 MED12 MEG3 MESP2 MGAT2 MITF MLC1 MOCS1 MOCS2 MPDZ MRAS MSX2 MTM1 MTMR14 MTOR MYF6 MYH8 MYMK NALCN NDUFAF3 NDUFS4 NDUFV1 NEU1 NF1 NFIA NFIB NFIX NKX3-2 NLRP3 NODAL NONO NOTCH2 NRAS NSD1 NXN OBSL1 ODC1 OFD1 OPHN1 OTUD5 PAK1 PCGF2 PDGFRB PDSS1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PHF21A PHF6 PIBF1 PIGA PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3CA PIK3R2 PITX1 PKDCC PLAG1 PLCB4 PLCH1 PLEC PLG POC1A POLE POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POP1 POR POU4F1 PPP1CB PPP1R12A PPP2CA PPP2R5D PSAP PTCH1 PTDSS1 PTEN PTHLH PTPN11 RAB39B RAC1 RAF1 RERE RFX7 RIN2 RIPPLY2 RIT1 RNF125 RNF135 ROBO3 ROR2 RPGRIP1L RTL1 RUNX2 RXYLT1 RYR1 SATB2 SDHB SDHC SDHD SEC23A SEC23B SEC24D SERPINH1 SETD1A SETD2 SH2B1 SHANK3 SHH SHOC2 SHPK SIM1 SIX2 SIX3 SLC12A2 SLC16A2 SLC25A1 SLC26A2 SLC29A3 SLC2A1 SLC2A10 SLC35D1 SLC39A14 SMAD4 SMARCB1 SMC1A SMO SMPD1 SNX10 SNX14 SON SOS1 SOST SOX9 SP7 SPINT2 SPRED1 SPTBN1 SRCAP STAG2 STIL STRADA STT3A SUFU SUMF1 SUZ12 SYN1 TAOK1 TBC1D2B TBC1D7 TBCK TBL1X TBX15 TBX6 TCF20 TCIRG1 TDGF1 TET3 TFE3 TGIF1 THRA TMCO1 TMEM216 TMEM53 TMEM67 TMEM94 TNFRSF11A TNFRSF11B TNFSF11 TNRC6B TONSL TRIM37 TRIO TRIP11 TUBA1A TUBB2B TUBB3 UBE2A UBE3A UPF3B USF3 USP7 USP9X VPS35L WASHC5 WDR35 WNT5A XYLT1 YME1L1 ZBTB20 ZBTB24 ZBTB42 ZBTB7A ZDHHC9 ZIC2 ZMPSTE24 ZNF469 ZSWIM6 HP_INCREASED_HEMOGLOBIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEMOGLOBIN BPGM EGLN1 EPAS1 EPO EPOR HBA1 HBA2 HBB JAK2 SH2B3 VHL HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT AKT2 FARS2 FOCAD HNF4A PGM1 PHKB PHKG2 PYGL SDHA SLC2A2 SLC37A4 HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEPATOCELLULAR_LIPID_DROPLETS LRPPRC MT-TN MT-TS1 SAR1B SURF1 HP_INCREASED_INFLAMMATORY_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INFLAMMATORY_RESPONSE A2ML1 AARS1 AASS ABCA12 ABCA3 ABCB1 ABCB11 ABCB4 ABCC6 ABCC9 ABCD1 ACADVL ACP5 ACTA1 ACTC1 ACTG2 ACTN4 ADA ADA2 ADAM17 ADAMTS2 ADAMTS3 ADAMTSL2 ADAR ADAT3 AEBP1 AFF4 AGA AGPAT2 AGR2 AIP AIRE AK2 AKR1D1 AKT1 ALDH18A1 ALDH3A2 ALG12 ALG5 ALG9 ALMS1 ALOX12B ALOXE3 AMACR ANAPC1 ANGPT2 ANK1 ANKFY1 ANKRD11 ANKRD55 ANLN ANO5 AP1B1 AP1S3 AP2S1 AP3B1 APC APC2 APOA1 APOC2 APOE APOL1 AR ARHGAP24 ARHGAP29 ARHGDIA ARHGEF2 ARHGEF38 ARID1A ARID1B ARID2 ARMC5 ARPC1B ARSB ARVCF ASAH1 ASPRV1 ASXL1 ATAD1 ATL1 ATL3 ATM ATN1 ATOH7 ATP6V0A1 ATP6V1B2 ATP7A ATP7B ATP8B1 ATRX AUTS2 AXIN1 B2M B3GALT6 B4GALT1 BACH2 BANK1 BAP1 BAZ1B BCAP31 BCKDHA BCKDHB BCL10 BCL11B BCL7B BCOR BCS1L BICC1 BIRC3 BLK BLM BLNK BLOC1S6 BMP4 BNC2 BPTF BRAF BRCA1 BRD4 BSCL2 BTD BTK BTNL2 BUD23 C1QA C1QB C1QC C1R C1S C2orf69 C3 C4A C4B C5 CACNA1C CACNA1G CALR CAMK2B CAPN3 CAPN5 CARD10 CARD11 CARD14 CARD8 CARD9 CARMIL2 CARS1 CASP10 CASP8 CASR CAT CAV1 CAVIN1 CBL CBS CCBE1 CCDC103 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CCR1 CCT5 CD151 CD19 CD247 CD27 CD28 CD2AP CD3D CD3E CD3G CD4 CD40LG CD79A CD79B CD81 CDC42BPB CDC45 CDC73 CDH1 CDH23 CDK10 CDKN1B CDON CDSN CEACAM3 CEACAM6 CEBPE CERS3 CFAP221 CFAP298 CFAP300 CFAP410 CFAP45 CFAP52 CFAP74 CFB CFHR5 CFI CFTR CHD7 CHST14 CIB1 CIC CIDEC CIITA CITED2 CLCA4 CLCN7 CLCNKB CLDN1 CLEC7A CLIP2 CLN3 CLPB CLTCL1 CLTRN COBLL1 COG6 COG8 COL11A1 COL11A2 COL17A1 COL2A1 COL3A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COMT COPA COQ8B CORO1A COX4I2 CPA1 CPLX1 CR2 CRB2 CREBBP CRLF1 CSF2RA CSF2RB CSPP1 CST6 CSTA CTBP1 CTC1 CTLA4 CTNNB1 CTRC CTSB CTSC CXCR4 CYBA CYBB CYBC1 CYP11B1 CYP4F22 CYP7A1 CYP7B1 CYSLTR2 DAAM2 DBT DCDC2 DCLRE1B DCLRE1C DCTN4 DDB1 DDB2 DDR2 DDX41 DEAF1 DEF6 DGKE DHCR7 DIP2B DISP1 DKC1 DLG1 DLK1 DLL1 DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNASE1 DNASE1L3 DNASE2 DNMT1 DNMT3B DOCK2 DOCK8 DOLK DPF2 DPP9 DRC1 DSE DSG1 DZIP1L EBP ECM1 EDA EDAR EDARADD EDNRA EFEMP2 EFL1 EGFR EIF4H ELANE ELF4 ELN ELOVL4 EMP2 EN1 ENPP1 EP300 EPB42 EPCAM EPG5 EPHB4 EPM2A ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESR1 ETS1 EXTL3 F13A1 F13B F5 FAM111B FANCF FAS FASLG FAT4 FBLN5 FBN1 FBXW7 FCGR2A FCGR2B FCGR3A FCGR3B FCHO1 FCN3 FECH FERMT1 FERMT3 FGA FGF10 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FIP1L1 FKBP6 FLG FLG2 FLI1 FLII FLNA FLT4 FLVCR1 FMO3 FMR1 FNIP1 FOCAD FOXC2 FOXD3 FOXH1 FOXJ1 FOXN1 FOXP1 FOXP3 FZD2 G6PC1 G6PC3 GALNS GANAB GAPVD1 GAS1 GAS2L2 GAS8 GATA1 GATA2 GATA3 GATA4 GATA6 GBA1 GCGR GCLC GFI1 GGT1 GINS1 GIPC1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GK GLB1 GLI2 GLIS3 GLRA1 GLRA2 GLRB GNA11 GNAQ GNAS GNB2 GNPTAB GNS GORAB GP1BB GPHN GPIHBP1 GPR101 GPR35 GRB10 GRHL3 GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C GUSB H3-3B H4C3 H4C5 H6PD HACD1 HAVCR2 HBA1 HBA2 HBB HDAC4 HDAC8 HEPHL1 HFE HGD HIRA HLA-A HLA-B HLA-C HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HMOX1 HNRNPA2B1 HOXA13 HPGD HPS1 HSD3B7 HSPA9 HYAL1 HYDIN HYOU1 IARS1 IARS2 ICOS IDH1 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IGBP1 IGF2R IGHG1 IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKB IKBKG IKZF1 IKZF3 IL10 IL10RA IL10RB IL11RA IL12A IL12A-AS1 IL12B IL12RB1 IL17F IL17RA IL17RC IL18BP IL1R1 IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL37 IL4R IL6 IL6R IL6ST IL7 IL7R INAVA INF2 IPO8 IQSEC2 IRAK1 IRF2BP2 IRF4 IRF5 IRF6 IRF8 IRF9 IRGM ITCH ITGA6 ITGA7 ITGAM ITGB2 ITGB4 ITK IVNS1ABP JAGN1 JAK1 JAK2 JAK3 JAZF1 JMJD1C KANK2 KANSL1 KARS1 KAT6A KCNJ6 KCNN4 KCTD1 KDF1 KDM6A KDSR KIAA0319L KIAA0586 KIF11 KIF12 KIF15 KIRREL1 KIT KLRC4 KMT2A KMT2D KMT5B KNSTRN KPTN KRT1 KRT10 KRT14 KRT17 KRT18 KRT5 KRT74 KYNU LACC1 LAGE3 LAMA2 LAMA3 LAMB3 LAMC2 LAT LBR LCK LCP2 LDHA LEMD3 LEP LETM1 LGI3 LHCGR LIG1 LIG4 LIMK1 LIPN LMBRD1 LMF1 LMNA LMNB1 LMNB2 LMX1B LONP1 LPIN1 LPIN2 LPL LRBA LRIF1 LRP12 LRRC32 LRRC56 LRRC8A LSM11 LSS LTBP1 LTBP3 LTBP4 LYST LYZ MAB21L1 MAF MAGI2 MAGT1 MALT1 MAN2B1 MAP3K20 MAP3K7 MAPK1 MARS2 MASP2 MBL2 MBTPS2 MCCC2 MCIDAS MDM4 MECP2 MED12 MED25 MEFV MEG3 MEGF10 MEIS2 MEN1 MET METTL27 MGP MIA3 MID1 MIF MLX MLXIPL MMACHC MME MMEL1 MMP1 MMUT MNS1 MNX1 MORC2 MPDU1 MPEG1 MPLKIP MPV17 MRTFA MS4A1 MS4A2 MSMO1 MSN MST1 MSX1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTAP MTHFD1 MTM1 MTTP MVK MYCN MYD88 MYH11 MYH6 MYH9 MYL2 MYO1E MYO1H MYSM1 NAA10 NABP1 NADK2 NAE1 NAXD NBEA NBN NCF1 NCF2 NCF4 NCKAP1L NCSTN NDUFA6 NDUFS3 NECTIN1 NEK10 NEK9 NELFA NF1 NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NFS1 NGF NHLRC1 NHP2 NIPAL4 NIPBL NKX2-1 NKX2-5 NLRC4 NLRP1 NLRP12 NLRP3 NME5 NME8 NOD2 NODAL NOP10 NOS1 NOTCH2 NOTCH2NLC NPHS1 NPHS2 NPM1 NR1H4 NR3C1 NSD1 NSD2 NSMCE2 NSMCE3 NSUN2 NTRK1 NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 NXN OBSCN OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPLAH ORAI1 ORC6 OSTM1 OTULIN P4HA2 P4HTM PAFAH1B1 PAH PANK2 PAPSS2 PARN PAX1 PAX2 PAX6 PCCA PCCB PCYT1A PDCD1 PDE11A PDGFRA PDGFRL PDHA1 PEPD PERCC1 PGM1 PGM2L1 PGM3 PHGDH PHIP PI4KA PIEZO1 PIGA PIGG PIGN PIGY PIK3CA PIK3CD PIK3CG PIK3R1 PKD1 PKD2 PKHD1 PKP1 PLA2G6 PLA2G7 PLCD1 PLCE1 PLCG2 PLCH1 PLEC PLEKHM1 PLG PLOD1 PLXND1 PML PMM2 PNP PNPLA1 PNPLA2 POFUT1 POGLUT1 POLA1 POLE POLG POLH POLR3A POMP POU2AF1 PPARG PRDM12 PRF1 PRG4 PRKACA PRKAR1A PRKAR1B PRKCD PRKDC PRMT7 PRORP PRSS1 PRSS2 PRTN3 PSEN1 PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSMD12 PSMG2 PSPH PSTPIP1 PTCD3 PTCH1 PTEN PTPN2 PTPN22 PTPRC PTPRO PURA PXK RAB7A RAC1 RAC2 RAD21 RAG1 RAG2 RAI1 RANBP2 RARA RASGRP1 RBCK1 RBM8A RBP4 RECQL REL RELB RET RETREG1 REV3L RFC2 RFX5 RFX7 RFXANK RFXAP RHOH RIC1 RILPL1 RIN2 RIPK1 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF125 RNF168 RNF2 RNU12 RNU4ATAC RNU7-1 ROR2 RORC RPGR RPL11 RRAS2 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RTTN RUNX1 RUNX2 RYR1 SAMD9 SAMHD1 SASH3 SAT1 SBDS SCN9A SCNN1A SCNN1B SCNN1G SDCCAG8 SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEC24C SELENON SEMA4D SERPINA1 SERPINH1 SETBP1 SETD2 SF3B1 SFTPB SFTPC SGCG SH2D1A SH3KBP1 SH3PXD2B SHANK3 SHH SHOC2 SHPK SIAH1 SIK3 SIN3A SIX3 SKIC2 SKIC3 SLC11A1 SLC12A3 SLC25A12 SLC25A13 SLC25A15 SLC25A24 SLC26A9 SLC27A4 SLC29A3 SLC2A10 SLC30A2 SLC35A1 SLC35C1 SLC37A4 SLC39A4 SLC39A7 SLC4A1 SLC6A14 SLC6A19 SLC6A5 SLC7A7 SLC9A3 SLCO2A1 SLF2 SLURP1 SMAD3 SMARCA2 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMG8 SMG9 SNAP29 SNX10 SOCS1 SOX11 SOX18 SOX4 SP110 SPAG1 SPEF2 SPI1 SPIB SPINK1 SPINK5 SPP1 SPTA1 SPTB SPTBN1 SPTLC1 SPTLC2 SRCAP SRD5A3 SREBF1 SRP19 SRP54 SRSF2 SRY ST14 STAG2 STAT1 STAT2 STAT3 STAT4 STAT5B STIL STING1 STK36 STK4 STUB1 STX11 STX16 STX1A STXBP1 STXBP2 SULT2B1 SUOX SYK TAF1 TAOK1 TAP1 TAP2 TAPBP TARS1 TBC1D24 TBC1D2B TBC1D8B TBCD TBCK TBL1XR1 TBL2 TBX1 TBX19 TBX2 TBX20 TBX4 TCF3 TCF4 TCIRG1 TDGF1 TEK TERC TERT TET2 TFE3 TFG TFRC TG TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 TGM1 TGM5 TICAM1 TIMM8A TINF2 TK2 TKFC TKT TLK2 TLL1 TLR4 TLR7 TLR8 TMC6 TMC8 TMCO1 TMEM270 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF9 TNFSF11 TNFSF12 TNFSF15 TNFSF4 TNIP1 TNPO3 TNRC6B TOM1 TONSL TOP3A TP53 TP63 TP73 TPM2 TPM3 TPP2 TPR TRAC TRAF3IP2 TRAF6 TRAPPC11 TRAPPC2 TREX1 TRIM8 TRPC6 TRPM4 TTC12 TTC7A TYMS UBA1 UBAC2 UBB UBE2A UBE2L3 UFD1 UMOD UNC119 UNC13D UNG UQCRH UROD UROS USB1 USP26 USP48 USP8 VIPAS39 VPS33A VPS33B VPS37D WAS WDR1 WDR19 WDR26 WDR35 WIPF1 WNT4 WRAP53 WT1 XDH XIAP XPA XPC XPNPEP3 XYLT1 ZAP70 ZBTB16 ZBTB24 ZBTB7A ZEB1 ZEB2 ZFAT ZIC2 ZMYND10 ZNF341 ZNF699 ZNF750 ZNFX1 HP_INCREASED_INTERVERTEBRAL_SPACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTERVERTEBRAL_SPACE ACP5 EXTL3 PLCB3 SLC26A2 TMEM53 TRPV4 HP_INCREASED_INTRACRANIAL_PRESSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRACRANIAL_PRESSURE AKT1 ALX4 ANTXR1 APC BAP1 BMPR1A BRAF C4A CASR CCM2 CCND1 CCR1 CSPP1 CTNNB1 CTSK DKK1 ELMO2 EPCAM ERAP1 ERF FAN1 FAS FGFR2 FGFR3 GALC GALK1 GNA11 HLA-B IFNGR1 IFT172 IL10 IL12A IL12A-AS1 IL23R IRF4 KIAA0586 KLLN KLRC4 KRAS KRIT1 L1CAM LRP5 MEFV MLH1 MLH3 MSH2 MSH6 NF2 NLRP3 PDCD10 PDE4D PDGFB PIK3CA PMS1 PMS2 PRF1 PSAP PTEN RPS20 SDHB SDHC SDHD SEC23B SEMA4A SMARCB1 SMARCE1 SMO SNORD118 SOST STAT4 SUFU TCF12 TERT TGFBR2 TLR4 TRAF7 TWIST1 UBAC2 USF3 VHL ZIC1 HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS ABHD5 AFG3L2 CACNA1S CHCHD10 COQ8A COX6A2 GABRA3 ISCU KCNE3 KCNJ18 MIPEP MSTO1 MT-TN MT-TS1 NDUFA4 NDUFS4 PNPLA2 SCN4A SDHA STAC3 SUCLG1 SURF1 HP_INCREASED_JITTER_AT_SINGLE_FIBER_EMG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_JITTER_AT_SINGLE_FIBER_EMG ALG14 ALG2 COL13A1 DPAGT1 GFPT1 GMPPB SLC25A1 HP_INCREASED_LAXITY_OF_ANKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_ANKLES COL6A1 COL6A2 COL6A3 COMP GLI3 MFN2 PYCR2 HP_INCREASED_LAXITY_OF_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_FINGERS COL12A1 COL6A1 COL6A2 COL6A3 COMP HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION ABCA2 ABCG5 ABCG8 ALB APOA2 APOB APOE CCDC115 CELA2A CEP19 CYP7A1 DYRK1B EMD EPHX2 FHL1 GHR LCAT LDLR LDLRAP1 LIPA LMNA LPL LRP6 PCSK9 PPP1R17 SLC25A13 SLC7A7 SMPD1 SYNE1 SYNE2 TMEM199 TMEM43 TTPA HP_INCREASED_LEFT_VENTRICULAR_END_DIASTOLIC_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEFT_VENTRICULAR_END_DIASTOLIC_VOLUME ACTC1 ADAMTS19 BAG3 BAG5 CRYAB CSRP3 DMD DSG2 FKTN LDB3 MYBPC3 MYH6 MYPN NEXN PSEN1 PSEN2 RAF1 SGCD TAFAZZIN TNNI3 TNNT2 TPM1 VCL HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE BCKDHA BCKDHB DBT HMGCL PAH PCCA PCCB HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE ACVR1B APC CASP10 ERBB2 FGFR2 IL1B IL1RN IRF1 KLF6 KRAS KRT18 MUTYH PIK3CA SMAD4 STK11 TP53 HP_INCREASED_LIBIDO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LIBIDO CHD7 DUSP6 FGF17 FGF8 FGFR1 GNRH1 GNRHR HS6ST1 KISS1 KISS1R NHLH2 NSMF PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11 HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION AARS1 ANK1 CARS1 EPB42 ERCC2 ERCC3 GTF2E2 GTF2H5 KCNN4 MPLKIP PIEZO1 RNF113A SLC4A1 SPTA1 SPTB TARS1 HP_INCREASED_MEAN_PLATELET_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_PLATELET_VOLUME ABCG8 ACTN1 CD36 CDC42 COG1 DIAPH1 FLI1 FLNA GATA1 GFI1B GP1BA GP1BB GP9 ITGA2B ITGB3 LBR MYH9 PRKACG SC5D SKIC2 SKIC3 SLC35A1 TUBA8 TUBB1 HP_INCREASED_MEGAKARYOCYTE_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEGAKARYOCYTE_COUNT CALR JAK2 MPL SF3B1 SH2B3 TET2 TP53 HP_INCREASED_MUSCLE_FATIGUABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_FATIGUABILITY AMPD1 AMPD3 CACNA1S CAV3 CHRND DBH DMGDH GABRA3 KCNE3 KCNJ18 PFKM PGK1 RRM2B SCN4A SERPINA6 SLC16A1 STIM1 TMEM126B TRAPPC11 HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT ENO3 GAA MSTO1 MT-TE PFKM PHKA1 PHKA2 PHKB PHKG2 PYGM TRMU HP_INCREASED_MUSCLE_LIPID_CONTENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_LIPID_CONTENT ABHD5 ACTA1 AFG3L2 CACNA1S CHCHD10 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COQ8A COX6A2 CPT2 GABRA3 ISCU KBTBD13 KCNE3 KCNJ18 KLHL41 MIPEP MSTO1 MT-TE MT-TN MT-TS1 MYH7 MYPN NDUFA4 NDUFS4 NEB PNPLA2 SCN4A SDHA SELENON STAC3 SUCLG1 SURF1 TPM2 TPM3 TRMU TTN ZFHX4 HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5 PPT1 TPP1 HP_INCREASED_NUCHAL_TRANSLUCENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUCHAL_TRANSLUCENCY ADARB1 ARSL ATN1 BAZ1B BCL7B BMPER BRD4 BUB1 BUB1B BUB3 BUD23 CEP57 CLIP2 CSGALNACT1 DHCR7 DHPS DNAJC30 DOHH EIF4H ELN EPHB4 FGFR3 FIG4 FKBP6 GPC6 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HNRNPK LBR LIMK1 LZTR1 METTL27 MLXIPL MUSK MYL11 NCF1 NIPBL ODC1 PIGN RAD21 RFC2 SMC1A SMC3 STAG1 STX1A TBL2 TMEM270 TRIP11 TRIP13 TXNDC15 VAC14 VPS37D HP_INCREASED_NUMBER_OF_SKIN_FOLDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUMBER_OF_SKIN_FOLDS ALDH18A1 ELN FBLN5 GGCX MAPRE2 TUBB HP_INCREASED_OVERBITE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_OVERBITE ACP4 ALKBH8 EP300 EYA1 GRB10 HIVEP2 MYMX PRR12 RIC1 SIX1 SPART HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS ASXL1 CBL LYST RUNX1 SRSF2 TET2 HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE AASS ABCD4 ACADM ALDH4A1 AMT ARG1 ASPH CAMKMT CBS CLTRN GLDC GLYCTK GUCY2D HAL HCFC1 IVD LIPT1 LMBRD1 MCCC2 MMACHC MMADHC MTHFR MTR MTRR NADK2 NFU1 OPLAH PCCA PCCB PPM1B PRDX1 PREPL PRODH SARDH SLC1A1 SLC36A2 SLC3A1 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SLC7A9 SUOX TDO2 UQCRB HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE ACTC1 BMPR2 CAV1 CITED2 GATA4 GATA6 KCNK3 MYH6 NKX2-5 SLC34A2 SMAD9 TBX20 TLL1 HP_INCREASED_RED_BLOOD_CELL_MASS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_RED_BLOOD_CELL_MASS EGLN1 EPOR JAK2 SH2B3 VHL HP_INCREASED_RED_CELL_SICKLING_TENDENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_RED_CELL_SICKLING_TENDENCY BCL11A HBB HBG1 HBG2 KLF1 HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION AKT1 BAP1 MRE11 NF2 NSMCE3 PDGFB PIK3CA RNF168 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_INCREASED_SERUM_ESTRADIOL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_ESTRADIOL AR CDKN2A CTNNB1 ESR1 POLR3A PRKAR1A TERT TP53 ZNRF3 HP_INCREASED_SERUM_IRON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_IRON BCS1L BMP2 FTH1 HAMP HFE HJV KIF23 PKLR RACGAP1 SKIC3 SLC11A2 STEAP3 TFR2 HP_INCREASED_SERUM_LACTATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_LACTATE AARS2 ACAD9 ACAT1 ACAT2 ADAMTS13 AGK AIFM1 ALDH6A1 AMPD1 AMPD2 AMPD3 ATAD3A ATP5F1A ATPAF2 BCS1L C1QBP CA5A CARS2 CDK5 CHCHD10 CLPB COQ4 COQ8A COQ9 COX10 COX11 COX14 COX20 COX4I1 COX5A COX6A2 COX6B1 COX8A CRAT CYC1 CYP27A1 DARS2 DGUOK DLD DNAJC19 DNM1L DTYMK EARS2 ECHS1 FARS2 FASTKD2 FBXL4 FDX2 GFM1 GFM2 GLRX5 GOT2 GTPBP3 GYS2 HADHB HIBCH HMGCL HPDL HS6ST2 HSD17B10 HSPD1 HTRA2 ISCA1 ISCU KARS1 LARS2 LDHA LETM1 LIAS LIPT1 LIPT2 LONP1 LRPPRC LYRM7 MDH2 MECP2 MICOS13 MIPEP MPC1 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRPS34 MRPS7 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTO1 MTRFR NADK2 NARS2 NAXD NAXE NDUFA1 NDUFA11 NDUFA12 NDUFA13 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF4 NDUFAF6 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS8 NDUFV1 NFS1 NFU1 NGLY1 NSUN3 OCRL OGDH PC PDHA1 PDHX PDP1 PDSS1 PDSS2 PET100 PET117 PHKG2 PITRM1 PLPBP PMPCB PNPLA8 PNPO PNPT1 POLG POLG2 POLRMT PPCS PRORP PRSS12 PUS1 PYGL RARS1 RARS2 RMND1 RNASEH1 RRM2B SARS2 SCO1 SCO2 SDHA SDHB SERAC1 SFXN4 SLC25A10 SLC25A12 SLC25A26 SLC25A3 SLC25A4 SLC25A42 SLC31A1 SLC7A7 SOD1 STAT2 SUCLA2 SUCLG1 SURF1 SYNJ1 TANGO2 TARS2 TIMM22 TIMM50 TK2 TMEM126B TMEM70 TPK1 TRMT10C TRMT5 TRMU TSFM TTC26 TUFM TWNK TXN2 UPB1 UQCC2 UQCC3 UQCRB UQCRC2 UQCRH UQCRQ WARS2 YARS1 YARS2 YME1L1 HP_INCREASED_SERUM_SEROTONIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_SEROTONIN ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX MECP2 MEN1 NLGN3 NLGN4X SDHD SHROOM4 SNRPN TDO2 HP_INCREASED_SERUM_TESTOSTERONE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL AR CYP11B1 FSHR GNAS HSD3B2 INSR NR2F2 NR3C1 POLR3A PRKAR1A WNT4 HP_INCREASED_SIZE_OF_THE_CLITORIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SIZE_OF_THE_CLITORIS AGPAT2 AR ARID1B ATIC ATR BSCL2 CAV1 CAVIN1 CCNQ CD96 CDC45 CDC6 CDT1 CEP152 COX7B CYP11A1 CYP11B1 DHCR7 DHX37 DMRT3 ESCO2 FDXR FGFR2 FIG4 FOS FRAS1 GAD1 GATA4 GMNN HCCS HSD3B2 INSR KAT6B MAP3K1 MED25 MINPP1 NDUFB11 NR0B1 NR5A1 ORC1 ORC4 ORC6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POR PPARG PPP1R12A RSPO1 SOX9 SRY TALDO1 TOE1 TRAIP UBE3B UBR1 VAC14 VAMP7 WT1 WWOX ZFPM2 HP_INCREASED_SKULL_OSSIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SKULL_OSSIFICATION CSF1R HGSNAT HHAT NAGLU OSTM1 RBL2 SGSH VCP HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE AASS ABCD4 ASPH CAMKMT CBS HCFC1 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR PPM1B PRDX1 PREPL SLC3A1 SLC7A9 HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES ACTA1 AGA AGXT ALPL ANO5 ANOS1 ANTXR2 ARMC5 ASCC1 ASXL1 ATL1 ATL3 ATP7A ATP7B B2M B3GALT6 B3GAT3 B4GALT7 BANF1 BMP1 BRAF CA2 CASR CBL CBS CCDC134 CCDC141 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 CHEK2 CHRNA1 CHRND CHRNG CHST3 CLCN5 CLCN7 CLTCL1 COL1A1 COL1A2 COL2A1 COPB2 CREB3L1 CRTAP CTC1 CTNNB1 CTNND2 CTSK CYP27A1 CYP27B1 CYP2R1 DCC DKC1 DKK1 DUSP6 EFEMP2 EHHADH ELP1 FBLN5 FEZF1 FGF17 FGF8 FGFR1 FKBP10 FLRT3 FN1 FOXE1 FZD4 GATM GBA1 GK GLE1 GNAS GNPTAB GORAB HABP2 HBB HESX1 HNRNPA1 HNRNPA2B1 HRAS HS6ST1 IDH1 IDH2 IER3IP1 IFITM5 IL17RD IL6ST IRX5 KCNJ6 KDELR2 KIF1A KIT KLHL40 KLHL41 KRAS LBR LIFR LMOD3 LPIN2 LRP5 LTBP1 MBTPS2 MEN1 MESD MET MINPP1 MMP14 MMP2 MOGS MPV17 MTAP MYH3 NDNF NDUFAF6 NEB NFIX NGF NGLY1 NHERF1 NHP2 NOP10 NOTCH2 NPM1 NRAS NTRK1 OCRL P3H1 P4HB PANK2 PARN PDGFRB PLEKHM1 PLOD2 PLOD3 POT1 PPIB PRDM5 PROK2 PROKR2 PTEN PTH1R PYCR1 RB1 RECQL4 RETREG1 RIN2 RRM2B RTEL1 RUNX1 RUNX2 SATB2 SC5D SCARB2 SCN9A SEC24D SEMA3A SEMA5A SERPINF1 SGMS2 SLC29A3 SLC34A1 SLC34A3 SLC37A4 SLC4A1 SLC4A2 SLC7A7 SMPD1 SMS SNX10 SOX10 SOX9 SP7 SPARC SPRY4 SPTLC1 SPTLC2 SQSTM1 SRSF2 STAT3 TACR3 TAPT1 TBCD TCIRG1 TENT5A TERC TERT TET2 TIMM8A TINF2 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TP53 TPM3 TREM2 TRIP11 TRIP4 TRPV6 TYMS TYROBP UNC45A UROS USB1 VCP VDR WDR11 WNK1 WNT1 WNT3A WRAP53 YY1AP1 ZFHX2 ZNF469 ZNF687 HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 KCNQ2 KCNQ3 KCNT1 RPL10 SETD1B HP_INCREASED_TOTAL_BILIRUBIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_TOTAL_BILIRUBIN CPT2 DCDC2 KCNN4 LIPT1 LRP5 MYO5B PFKM PIEZO1 POLG2 PRF1 PRKCSH SEC63 SLC4A1 TMEM67 HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL AASS AGXT2 ALDH4A1 ALDH5A1 ALDH6A1 CTH DHTKD1 DMGDH GGT1 IBA57 LETM1 LMBRD1 MMACHC MOCS1 NFU1 PLOD2 PRDX1 PRODH SLC25A15 SLC36A2 SLC3A1 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SLC7A9 TNFRSF11A TNFRSF11B HP_INCREASED_URINARY_PORPHOBILINOGEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_PORPHOBILINOGEN ALAD CPOX GATA1 HMBS PPOX UROS HP_INCREASED_URINARY_POTASSIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_POTASSIUM BSND CLCNKA CLCNKB EHHADH GATM KCNJ1 NDUFAF6 SLC12A1 SLC34A1 HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL ASPA GPHN GSS MOCS1 MOCS2 OPLAH PHYKPL SLC13A3 SLC25A13 HP_INCREASED_VERTEBRAL_HEIGHT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_VERTEBRAL_HEIGHT CCDC8 CUL7 FGFR3 ITCH MAN2B1 NOTCH2 OBSL1 PPP1R15B TRPV4 HP_INCREASED_WAIST_TO_HIP_RATIO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_WAIST_TO_HIP_RATIO ABCC8 ADRB3 AGRP AKT2 CARTPT ENPP1 GCK GHRL GPD2 HMGA1 HNF1A HNF1B HNF4A IGF2BP2 IL6 IRS1 IRS2 KCNJ11 LIPC MAPK8IP1 MTNR1B NEUROD1 NR0B2 PAX4 PDX1 POMC PPARG PPP1R3A PTPN1 RETN SDC3 SLC2A2 SLC30A8 TCF7L2 UCP3 WFS1 HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS AAAS ACTB COL4A5 COL4A6 FLVCR1 GLA GMPPA GUCY1A1 IARS2 IVNS1ABP MEIS2 MYH11 MYO1H PHOX2B SAMD9 STAT3 TRAPPC11 HP_INERTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INERTIA ATXN1 FMR1 JPH3 PANK2 PRKAR1B HP_INFANTILE_AXIAL_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_AXIAL_HYPOTONIA B4GALT1 CAMK2A CDON DISP1 DLL1 DPAGT1 EXTL3 FGF8 FGFR1 FOXH1 GALC GAS1 GFER GFM2 GLI2 GM2A GNB1 GRIN2A HEXB MAN2B1 MFF NODAL PAX7 PLCH1 PRUNE1 PSAP PSAT1 PTCH1 RARS1 RNU12 RTTN RYR1 SEPSECS SHH SIX3 SLC39A14 SMC1A STAG2 STIL TDGF1 TGIF1 TSEN15 TSEN2 TSEN34 TSEN54 TUBB3 WARS2 ZIC2 HP_INFANTILE_ENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ENCEPHALOPATHY CCDC88A D2HGDH GCDH SLC19A3 STXBP1 TK2 TSEN54 ZNHIT3 HP_INFANTILE_MUSCULAR_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_MUSCULAR_HYPOTONIA AASS ACADS ACADVL ADAR ADAT3 ADGRG1 ADNP AHCY ALG11 ARID1A ARID1B ARID2 ARX ASAH1 ASXL3 ATP10A ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX B4GALT1 BMP2 CAMK2A CASK CDC42 CDKL5 CDON CLCN4 CLTCL1 COG5 COG8 COL5A1 CPE CWF19L1 DAG1 DCHS1 DEAF1 DISP1 DLK1 DLL1 DMXL2 DNMT3A DOLK DPAGT1 DPF2 DPM1 DPYD EBF3 ERMARD EXTL3 FAT4 FGF8 FGFR1 FGFR3 FKRP FOXH1 GAA GABRA1 GABRG2 GALC GAMT GAS1 GATAD2B GFER GFM2 GLB1 GLI2 GLYCTK GM2A GMPPB GNAO1 GNB1 GRIN1 GRIN2A GRM7 GTPBP3 H19 H4C5 HEXB IGF2 ITCH KCNA1 KCNH1 KCNJ11 KCNMA1 KCNN3 KIF15 LARGE1 LRP5 MAF MAGEL2 MAN1B1 MAN2B1 MECP2 MED12 MEG3 MFF MOGS MPDU1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTRFR NACC1 NAGS NALCN NEK1 NEU1 NEUROD2 NKX2-1 NODAL NTNG2 NUP54 NUP62 OCA2 PACS1 PAX7 PCDH19 PEX13 PGAP2 PGAP3 PI4KA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PLCH1 PNKP POGZ POMT1 POMT2 PRMT7 PRUNE1 PSAP PSAT1 PTCH1 RAC1 RAI1 RARS1 RNU12 RPL10 RTL1 RTTN RYR1 SARDH SATB2 SCN1A SCN1B SCN2A SCN9A SEPSECS SHH SIAH1 SIK1 SIM1 SIX3 SLC19A3 SLC25A22 SLC32A1 SLC35A2 SLC39A14 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMS SNRPN SON SOX11 SOX4 SPATA5 SRD5A3 SRPX2 STAG2 STIL SUCLG1 SUOX SYT1 TBC1D24 TBCD TDGF1 TELO2 TGIF1 TNNT1 TRAPPC11 TRIM8 TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TUBB2B TUBB3 UBA1 UBE3A UBTF UGT1A1 UNC80 USP9X WARS2 ZEB2 ZIC2 HP_INFANTILE_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ONSET AARS1 AARS2 AASS ABCB11 ABCB4 ABCC6 ABCC9 ABCD3 ABHD16A ACADS ACADSB ACADVL ACER3 ACO2 ACOX1 ACOX2 ACTA1 ACTL6B ADA ADA2 ADAM22 ADAMTS2 ADAR ADAT3 ADCY3 ADCY5 ADD3 ADGRG1 ADGRV1 ADK ADNP ADSL AEBP1 AFG3L2 AGK AGO1 AGO2 AGR2 AGTPBP1 AGXT AHCY AIFM1 AIMP1 AIMP2 AKT1 AKT2 ALDH18A1 ALDH5A1 ALDH6A1 ALDOA ALG11 ALG12 ALG13 ALG14 ALG2 ALG8 ALPK3 ALS2 AMBN AMFR AMMECR1 AMPD2 AMTN ANAPC7 ANGPT2 ANK1 ANKS6 ANOS1 ANTXR1 ANTXR2 AP1S2 AP3B2 AP5Z1 APC2 APOB ARFGEF1 ARFGEF2 ARHGEF9 ARID2 ARPC1B ARPC4 ARSB ARV1 ASH1L ASNS ASPA ASS1 ATAD3A ATG5 ATG7 ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP2B3 ATP5F1A ATP5F1B ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A4 ATP6V1A ATP6V1B2 ATP7A ATP8B1 ATP9A ATR AUH AUTS2 AVPR2 B3GALNT2 B3GALT6 B4GALNT1 B9D1 BAAT BCAP31 BCAS3 BCL10 BCL11B BCORL1 BCS1L BICD2 BLM BLNK BOLA3 BRAT1 BRF1 BRWD3 BTD BTK C12orf57 C2orf69 C3 C4B CA12 CACNA1A CACNA1B CACNA1C CACNA1G CACNA1H CACNA1I CACNA1S CACNA2D1 CACNA2D2 CAD CADM3 CALM1 CAMK2A CAMK2B CAMK2G CAMLG CAMSAP1 CAMTA1 CARD11 CARD14 CARMIL2 CARS2 CASK CAST CAV1 CAVIN1 CBL CCDC115 CCDC39 CCDC65 CD164 CD19 CD247 CD320 CD3D CD3E CD3G CD40LG CD55 CD59 CD79A CD79B CDKL5 CELF2 CEP104 CERS1 CFAP410 CFI CFTR CHAMP1 CHD1 CHD2 CHD3 CHD5 CHD8 CHKA CHKB CHMP1A CHRNA1 CHRND CHRNE CIC CLCN3 CLCN4 CLCN7 CLCNKB CLDN11 CLDN19 CLMP CLP1 CLPB CLPX CLTC CNNM2 CNNM4 CNOT3 CNPY3 CNTN1 CNTNAP2 COG2 COG4 COL12A1 COL1A1 COL27A1 COL4A1 COL6A1 COL6A2 COL6A3 COL7A1 COLGALT1 COLQ COPB1 COPB2 COQ2 COQ6 COQ8A COQ8B CORO1A COX10 COX11 COX15 COX4I2 COX5A COX6A2 CPLANE1 CPLX1 CPSF3 CPT2 CRB1 CRB2 CRBN CREBBP CRLS1 CRX CRYAB CSF3R CSNK2A1 CTBP1 CTC1 CTDP1 CTNNA2 CTNNB1 CTNS CUL3 CUX1 CUX2 CWF19L1 CXCR4 CYB561 CYBB CYC1 CYP1B1 CYP24A1 CYP2R1 CYP2U1 D2HGDH DAG1 DARS1 DBR1 DCC DCDC2 DCLRE1B DCLRE1C DCX DDB1 DDC DDHD1 DDOST DDX3X DEAF1 DEF6 DGKE DGUOK DHPS DHX30 DIAPH1 DIP2B DLAT DLD DLG4 DNAAF4 DNAAF5 DNAH5 DNM1 DNM2 DOCK2 DOCK3 DOCK7 DOCK8 DOLK DPAGT1 DPF2 DPH2 DPM1 DPP9 DPYD DRC1 DSC3 DSPP DST DTYMK DUT DYNC1H1 DYNC1I2 DYRK1A DZIP1L EARS2 EBF3 ECM1 EDA EDEM3 EEF1A2 EFL1 EGR2 EHHADH EIF2AK1 EIF2AK2 EIF2AK3 EIF2B5 EIF3F ELAC2 ELANE ELF4 ELOVL1 ELP2 ENPP1 EP300 EPCAM EPG5 EPHB4 EPO EPRS1 ERBB2 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 ERF ERLIN2 ERMARD ETHE1 EXOC2 EXOC7 EXOSC2 EXOSC5 EXOSC8 EXT2 FANCB FANCL FAR1 FARSB FBP2 FBXL3 FCGR2A FCGR3A FCHO1 FERMT3 FGA FGB FGF12 FGF13 FGFR1 FGG FHL1 FIG4 FKBP10 FKTN FLAD1 FLNA FLT4 FMN2 FNIP1 FOCAD FOXC1 FOXP1 FOXP3 FRMD5 FRMD7 FRMPD4 FRRS1L FTSJ1 FUCA1 FYCO1 FZD4 FZR1 G6PC1 G6PD GABBR2 GABRA1 GABRB1 GABRB3 GABRG2 GAD1 GALC GALNS GAMT GAN GARS1 GATA1 GATAD2B GATM GBA1 GCDH GCH1 GDAP1 GEMIN4 GEMIN5 GET4 GFAP GFI1B GFPT1 GGCX GGT1 GH1 GJA1 GJB2 GJB3 GJC2 GLB1 GLRA1 GLS GLUD1 GM2A GMPPA GMPPB GNAO1 GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GOLGA2 GON7 GOSR2 GP6 GPAA1 GPD1 GPHN GPR101 GPT2 GRHL2 GRIA1 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GTPBP2 GTPBP3 GUCY1A1 GUCY2C GUCY2D GUSB H3-3B H4C5 H4C9 HADHA HADHB HAX1 HCFC1 HCN1 HCN2 HCN4 HCRT HDAC4 HECTD4 HEPACAM HERC2 HEXA HEXB HGD HIBCH HID1 HIKESHI HIVEP2 HMGCS2 HNF1A HNMT HNRNPH2 HNRNPU HPD HPDL HPRT1 HPS5 HSD17B10 HSPG2 HTT HUWE1 HYDIN IARS2 IDH3A IDS IFIH1 IFITM5 IFNAR1 IFNG IFT140 IGHM IGLL1 IKBKB IKBKG IL10RB IL12B IL17RC IL21 IL2RB IL2RG IL36RN IL37 IL6R IL6ST IL7R ILDR1 IMPDH1 INPP5E INPP5K IQSEC2 IREB2 IRF2BPL IRF8 ISCA1 ISCA2 ITGA3 ITGA7 ITPA ITPR1 JAG1 JAG2 JAGN1 JAK3 JPH1 KARS1 KAT6B KCNA2 KCNB1 KCNC2 KCNH1 KCNJ10 KCNJ11 KCNJ13 KCNMA1 KCNN2 KCNN4 KCNQ2 KCNQ5 KCNT1 KCNT2 KCTD7 KDELR2 KDM4B KDM5B KDM6B KDR KIDINS220 KIF12 KIF1A KIF5A KITLG KLC2 KLHL7 KLK4 KMT2E KMT5B KPNA3 KRT10 KRT14 KRT5 KRT81 KRT83 KRT86 L2HGDH LAGE3 LARGE1 LCA5 LCK LEPR LETM1 LGI3 LIG1 LINGO1 LINS1 LIPA LIPT1 LMAN2L LMBRD1 LMBRD2 LMNA LMNB1 LRIG2 LRP5 LRPPRC LRRK1 LTBP1 LTV1 LYRM7 LYSET LYST MACF1 MAFB MAGEL2 MAGI2 MALT1 MANBA MAP2K2 MAPK8IP3 MARS1 MAST1 MAST3 MATN3 MBD5 MBOAT7 MBTPS1 MCCC1 MCCC2 MCEE MCM5 MCOLN1 MDH2 MECP2 MED12 MED13L MED17 MED25 MEF2C MEFV MEGF10 METTL23 MFF MFN2 MGAT2 MIA3 MICOS13 MID2 MIPEP MLC1 MLIP MMAA MMACHC MMADHC MMP1 MMP13 MMP14 MMP2 MMP9 MPDU1 MPI MPV17 MPZ MRPL3 MRPL44 MRPS2 MRPS25 MRPS34 MRPS7 MSX2 MT-TN MT-TS1 MTFMT MTHFD1 MTHFS MTMR14 MTO1 MTOR MTPAP MTR MTRR MTSS2 MTX2 MUSK MVK MYH7 MYMK MYMX MYO5A MYO5B MYO7A MYT1L NAA20 NACC1 NADK2 NAGA NAPB NARS1 NARS2 NAXD NAXE NBAS NBEA NCAPD3 NCDN NCKAP1L NDP NDST1 NDUFA1 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA6 NDUFA8 NDUFAF1 NDUFAF3 NDUFAF6 NDUFAF8 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS4 NDUFV1 NDUFV2 NEB NEDD4L NEFL NEMF NEUROD2 NEXMIF NF1 NFE2L2 NFIA NFKBIA NFU1 NGF NGLY1 NKX2-1 NKX6-2 NLRC4 NLRP1 NLRP12 NLRP3 NMNAT1 NOS1AP NOTCH2NLC NPHP3 NR0B1 NR1H4 NR4A2 NSD2 NSRP1 NSUN2 NSUN3 NTRK1 NTRK2 NUP62 OAS1 OCLN OFD1 OGDH OGDHL OPA1 OPHN1 OSTM1 OTC OTULIN P4HB P4HTM PACS2 PAK1 PANK2 PARN PC PCDH12 PCDH15 PCDH19 PCDHGC4 PCK1 PCLO PCNA PDE10A PDE2A PDGFRB PDHA1 PDZD8 PERP PET100 PEX1 PEX12 PEX14 PEX16 PEX2 PGAP1 PGAP2 PGAP3 PGM2L1 PHEX PHIP PHKA2 PHKB PHKG2 PHOX2B PI4KA PIDD1 PIGA PIGG PIGK PIGL PIGM PIGP PIGS PIGT PIGW PIK3CD PIK3R1 PINK1 PITRM1 PKHD1 PLCB1 PLCE1 PLCG2 PLEKHG2 PLG PLP1 PLPBP PLXND1 PMM2 PMP22 PMPCA PMPCB PNKD PNP PNPT1 POC1B POGZ POLE POLG POLG2 POLH POLR1C POLR3A POLR3B POLR3K POLRMT POMC POMGNT2 POMK POMT1 POMT2 POU1F1 PPA2 PPCS PPP2CA PPP3CA PRDM12 PRDM13 PRDX1 PRF1 PRKACG PRKAR1B PRKDC PRKG2 PROC PRRT2 PRX PSAP PSMB8 PSMC1 PSMD12 PSMG2 PSPH PTCHD1 PTEN PTF1A PTH PTPRC PTPRQ PTRH2 PTS PURA PUS1 PUS3 PUS7 PYROXD1 QARS1 QDPR RAB11B RAB27A RAC1 RAD51 RAG1 RAG2 RANBP2 RARS1 RBCK1 RDX RECQL RELB REPS1 RERE REST RETREG1 RFT1 RFX7 RHOBTB2 RIN2 RINT1 RIPK1 RLIM RMRP RNASEH2A RNASET2 RNPC3 RNU12 RNU4ATAC ROBO3 ROR1 RORB RORC RPE65 RPGRIP1L RPL21 RPL35A RPL3L RPS10 RPS19 RPS26 RPS29 RPS6KA3 RPSA RRAGD RSPRY1 RSRC1 RUBCN RUSC2 RYR1 S1PR2 SACS SAMD9 SAMHD1 SAR1B SARS1 SARS2 SASH1 SATB2 SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SEC23B SELENBP1 SELENON SEMA7A SEPSECS SERPINB7 SERPINB8 SET SETBP1 SETD1A SETD5 SGCD SGPL1 SH3KBP1 SH3TC2 SHQ1 SI SIL1 SIN3A SKIC2 SLC11A2 SLC12A5 SLC12A6 SLC16A1 SLC18A2 SLC18A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A15 SLC25A26 SLC25A36 SLC25A38 SLC25A42 SLC26A3 SLC2A1 SLC2A10 SLC2A2 SLC30A9 SLC31A1 SLC33A1 SLC34A3 SLC35A1 SLC35B2 SLC37A4 SLC38A3 SLC38A8 SLC39A14 SLC39A4 SLC39A7 SLC41A1 SLC46A1 SLC51A SLC52A3 SLC5A6 SLC5A7 SLC6A17 SLC6A3 SLC6A6 SLC6A8 SLC7A7 SLC9A7 SLF2 SLITRK2 SLITRK6 SLURP1 SMARCA4 SMARCC2 SMG9 SMN1 SMPD1 SNAP29 SNORD118 SNX10 SNX14 SOBP SOD1 SON SOST SOX18 SOX6 SP7 SPARC SPATA5 SPATA5L1 SPATA7 SPEG SPR SPRED2 SPTAN1 SPTBN2 SRCAP SRD5A3 ST3GAL3 ST3GAL5 STAG1 STAT2 STAT3 STEAP3 STING1 STK4 STS STT3A STX11 STX1B STXBP1 STXBP2 SUCLA2 SUCLG1 SUPT16H SURF1 SVIL SYK SYNE4 SYNGAP1 SYNJ1 SYT1 SZT2 TAF13 TAF2 TAF8 TAFAZZIN TARS2 TBC1D23 TBC1D24 TBC1D7 TBC1D8B TBCD TBCE TBK1 TBL1X TBL1XR1 TBR1 TBX19 TBX21 TCEAL1 TCF20 TCF3 TCIRG1 TCN2 TCTN2 TECR TELO2 TET2 TGFB1 TGFBI TGM3 TH THOC6 THUMPD1 TIAM1 TIMM50 TIMMDC1 TJP2 TK2 TLK2 TLR8 TMEM106B TMEM163 TMEM38B TMEM63C TMEM67 TMTC3 TMX2 TNFAIP3 TNFRSF11A TNFRSF11B TNFSF11 TNIK TNNT1 TNNT2 TNPO2 TNR TOGARAM1 TOM1 TP53 TP53RK TP63 TPK1 TPO TPP2 TPR TRAC TRAF7 TRAPPC12 TRAPPC2L TRAPPC6B TRAPPC9 TRDN TREX1 TRIM2 TRIM37 TRIO TRIOBP TRIP13 TRIT1 TRMT1 TRMU TRNT1 TRPA1 TRPM6 TRPV3 TRPV4 TSC1 TSC2 TSEN15 TSHB TSPYL1 TTC26 TTI2 TTN TUBB2A TUBB4A TUBB6 TUBGCP2 TUFM TULP1 TULP3 TWIST1 TWNK TXN2 TYMS UBA5 UBE2A UBE3C UBTF UFC1 UFSP2 UNC13D UNC45B UPB1 UQCRB UQCRQ USB1 USH1C USP53 UVSSA VAMP1 VAMP2 VARS1 VARS2 VDR VHL VLDLR VPS13D VPS33A VPS33B VPS37A VPS41 VPS45 VPS53 WAC WARS1 WARS2 WAS WASHC4 WDR26 WDR4 WDR45B WDR62 WDR73 WDR81 WLS WNK1 WWOX YARS1 YARS2 YIF1B YIPF5 YME1L1 YRDC YWHAG ZAP70 ZBTB18 ZFYVE19 ZIC1 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF407 ZNF408 ZNF462 ZNF526 ZNF668 ZNFX1 ZSWIM6 HP_INFANTILE_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SENSORINEURAL_HEARING_IMPAIRMENT NDE1 PRG4 SARDH SETBP1 TK2 HP_INFANTILE_SPASMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SPASMS ACTL6B ADGRG1 ALG13 ALG14 ALG2 APC2 ARFGEF1 ARX ASAH1 ATAD1 ATP2B1 ATP6V1A BTD CASK CDC40 CDH2 CDK19 CDKL5 CEP85L CHD3 CLCN4 CNPY3 CTNNA2 CUL3 D2HGDH DCX DEPDC5 DHX16 DHX37 DMXL2 DNM1 DOCK7 DOLK DPAGT1 EEF1A2 ERCC5 ERMARD FBLN1 FBXO28 GABBR2 GABRB3 GABRG2 GCDH GNAO1 GNB1 GOLGA2 GRIN1 GRIN2B GRM7 GUF1 HCFC1 HDAC4 HIBCH HK1 IFNG KCNA1 KCNB1 KCNQ5 KDM4B KIF1A LONP1 MACF1 MAPK1 MECP2 MGAT2 MMACHC MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NACC1 NAXD NDUFAF8 NEDD4L NEUROD2 NEXMIF NGLY1 NPRL2 NPRL3 NTNG1 NTRK2 OGDHL PAFAH1B1 PCDH12 PDHA1 PHACTR1 PI4KA PIGA PIGP PIGQ PLCB1 PNKP PPIL1 PRRT2 PTPN23 RALGAPA1 RNF13 RUSC2 SCN1B SCN2A SEPSECS SIK1 SLC19A3 SLC1A4 SLC25A10 SLC25A22 SLC32A1 SLC35A2 SMC1A SPATA5 SPATA5L1 SPTAN1 SPTBN1 SRPX2 ST3GAL3 STAMBP STRADA STXBP1 SUCLA2 TANGO2 TRIM8 TRPM3 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB2A TUBB2B TUBB3 TUBG1 UBA5 UFC1 UFSP2 VPS53 WDR45 ZNHIT3 HP_INFECTION_FOLLOWING_LIVE_VACCINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTION_FOLLOWING_LIVE_VACCINATION CORO1A CYBB DCLRE1C FCGR3A IFNAR1 IFNAR2 IFNG IL12B IL12RB1 IRF8 ORAI1 REL RORC SPPL2A STAT1 STAT2 TBX21 TCF3 ZNFX1 HP_INFECTIOUS_ENCEPHALITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTIOUS_ENCEPHALITIS ATRX BCL10 BTK C4A CCR1 CD27 CD40LG CIITA CLTRN DBR1 ERAP1 FAS HLA-B HYOU1 IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL23R IRF3 IRF4 KLRC4 L2HGDH LBR MEFV NCKAP1L PRF1 RFX5 RFXANK RFXAP SH2D1A SLC6A19 SNORA31 STAT1 STAT4 STX11 STXBP2 TBK1 TICAM1 TLR3 TLR4 TMEM70 TOM1 TRAF3 UBAC2 UNC13D UNC93B1 XIAP HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA ASXL3 BMP4 BRF1 GEMIN4 GRM1 INTS1 KIAA0753 L1CAM LAMA1 MDH1 MED11 PIEZO2 TRAPPC9 VLDLR HP_INFERIOR_LENS_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_LENS_SUBLUXATION BAP1 CYSLTR2 GNA11 GNAQ SF3B1 HP_INFERTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERTILITY ACTL9 ADGRG2 AK7 AKAP3 AMH AMHR2 AR ARMC2 ASTL AURKC AXL BLM BMP6 BPY2 BRAF BRDT BTG4 C11orf80 C14orf39 C2CD6 CATIP CATSPER1 CATSPER2 CCDC103 CCDC141 CCDC34 CCDC39 CCDC40 CCDC62 CCDC65 CCNO CDC14A CDC20 CDH23 CDY1 CDY2A CEP112 CEP19 CFAP221 CFAP251 CFAP298 CFAP300 CFAP43 CFAP44 CFAP47 CFAP52 CFAP58 CFAP65 CFAP70 CFAP74 CFTR CLDN2 CT55 CTNS CYP17A1 CYP19A1 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DHH DHX37 DMRT3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH10 DNAH11 DNAH17 DNAH2 DNAH5 DNAH7 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNALI1 DNHD1 DPY19L2 DRC1 DUSP6 DZIP1 FANCA FANCM FBXO43 FCGR2A FEZF1 FGF17 FIGLA FKBP6 FOXA2 FOXJ1 FOXL2 FSHB FSIP2 GALT GAS2L2 GAS8 GATA4 GBA2 GCM2 GCNA GGN GGPS1 GLI2 GNRH1 GNRHR H6PD HERC2 HESX1 HFE HJV HLA-DQA1 HLA-DQB1 HSD17B3 HSF2BP HSFY1 HYDIN IFT74 IQCN KCNU1 KDM5D KLHL10 KPNA7 LHCGR LHX4 LRRC56 M1AP MAGEL2 MAP2K1 MAP3K1 MCIDAS MEI1 MEIOB MKRN3 MNS1 MOS MOV10L1 MSH4 MSH5 NANOS1 NDN NEK10 NLRP2 NLRP5 NME5 NME8 NPAP1 NR0B1 NR3C1 NR5A1 OCA2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PADI6 PANX1 PATL2 PDHA2 PGR PLCZ1 PLIN1 PMFBP1 PNLDC1 POF1B POU1F1 PPP2R3C PRLR PROP1 PRY PRY2 PSMC3IP PTPN11 PWAR1 PWRN1 QRICH2 RBMY1A1 REC114 RNF212 RPGR RPL10L RPS4Y2 RSPH1 RSPH3 RSPH4A RSPH9 SEMA3E SEPTIN12 SHOC1 SIM1 SLC26A8 SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX3 SOX9 SPAG1 SPAG17 SPATA16 SPEF2 SPINK2 SPRY4 SRA1 SRY SSX1 STAG3 STK36 STRC STUB1 SUN5 SYCE1 SYCP2 SYCP3 TDRD9 TEKT3 TERB1 TERB2 TEX11 TEX14 TEX15 TGFB1 TLE6 TRIP13 TSGA10 TSPY1 TTC12 TTC21A TTC29 TUBB8 USP26 USP9Y VAMP7 VCY WDR11 WDR19 WEE2 WT1 WWOX XKRY XRCC2 ZFP36L2 ZFPM2 ZMYND10 ZMYND15 ZP1 ZP2 ZP3 ZPBP ZSWIM7 HP_INFLAMMATION_OF_THE_LARGE_INTESTINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE ABCB1 ACADVL ARPC1B BACH2 BCL10 CARD11 CARD8 CARMIL2 CASP10 CIITA COG6 CTLA4 CYBC1 DCLRE1B DEF6 DOCK2 ELANE ELF4 F13A1 F13B FAS FASLG FCHO1 FCN3 FERMT1 FH FOXP3 GPIHBP1 GPR35 HLA-B HLA-DRB1 HPS1 IKBKG IL10RA IL10RB IL21 IL37 IL6 INAVA IRGM IVNS1ABP JAK1 LRBA MAP3K7 MASP2 MEFV MST1 MYH11 NCF4 NFKBIA NLRC4 NOD2 OPLAH PI4KA PIGY PIK3CD PIK3CG PLCG2 POLA1 PRF1 PRKCD PSTPIP1 RASGRP1 RBCK1 RET RFX5 RFXANK RFXAP RIPK1 RTEL1 SEMA4D SKIC2 SKIC3 SLC37A4 SLC9A3 STAT1 STX11 STXBP2 SYK TCF4 TGFB1 TNFAIP3 TOM1 TTC7A UNC13D WAS WIPF1 XIAP ZAP70 HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE AARS1 ABCA12 ADAM17 AEBP1 AIRE ALDH3A2 ALOX12B ALOXE3 ANKRD55 AP1B1 AP1S3 APOE ARPC1B ATOH7 BAP1 BCL10 BIRC3 BLM BLNK BRD4 BTD BTK BTNL2 C4A CAPN5 CARS1 CASP10 CCR1 CD19 CD247 CD27 CD79A CD79B CERS3 CLTCL1 COL17A1 COL4A5 COL4A6 COL7A1 CR2 CRLF1 CST6 CTC1 CTLA4 CYBA CYBB CYBC1 CYSLTR2 DDB2 DKC1 DNASE1L3 EGFR EPCAM ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF FAS FASLG FBN1 FERMT1 FGF10 FGFR2 FGFR3 FOXC2 FOXP1 GATA1 GJA1 GJB2 GJB6 GNA11 GNAQ GNAS GPR35 GSN GTF2E2 GTF2H5 HDAC8 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS IARS2 ICOS IFNGR1 IGHM IGLL1 IGSF3 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IL36RN IL6 IL6ST IRF4 KAT6A KLRC4 LACC1 LBR LRBA LRRC8A MAB21L1 MALT1 MBTPS2 MEFV MIF MLX MMP1 MPLKIP MSMO1 MST1 MTTP NCF1 NCF2 NCF4 NHP2 NIPAL4 NIPBL NLRP1 NLRP3 NOD2 NOP10 NPM1 NTRK1 PARN PAX1 PAX6 PERCC1 PIGN PIK3R1 PLCD1 PLEC PLG PLXND1 PNPLA1 POLH PRKCD PRTN3 PSMB4 PSMB8 PSMB9 PTPN2 PTPN22 RAD21 RAG1 RAG2 RASGRP1 RECQL REV3L RNF113A RNF125 RTEL1 SAMD9 SCN9A SDR9C7 SEMA4D SF3B1 SLC29A3 SLC35C1 SLC39A4 SLC39A7 SMC1A SMC3 SPI1 SREBF1 ST14 STAT4 STUB1 STX11 STX16 SULT2B1 TARS1 TBX4 TCF3 TCF4 TERC TERT TFRC TGM1 TINF2 TKT TLR4 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TP63 TRAF3IP2 TYMS UBAC2 UROD UROS USB1 VPS33A WAS WIPF1 WRAP53 XPA XPC ZEB1 HP_INFRA_ORBITAL_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFRA_ORBITAL_CREASE AARS1 DHPS FGFR2 IARS2 LRP2 MDH1 NAA10 PUS7 SOX4 HP_INGUINAL_FRECKLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_FRECKLING KRT5 NF1 POFUT1 POGLUT1 PSENEN SPRED1 HP_INGUINAL_HERNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_HERNIA ABCD4 ACTA2 ADAMTS2 ADAMTSL2 ADNP AEBP1 AGA ALDH18A1 AMH AMHR2 AP1S2 APC2 AR ARID1A ARID1B ARPC4 ARSB ARVCF ARX ATAD1 ATP1A2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A AUTS2 B3GAT3 B3GLCT BAZ1B BCL7B BCR BMPER BRAT1 BRF1 BUB1 BUD23 C1R C1S CBS CC2D2A CCDC22 CDC42 CDKN1C CHD3 CHRNG CHST14 CHST3 CLCN4 CLDN19 CLIP2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COMT COX11 CREBBP CRKL CSNK2A1 CTCF CTNND2 CUL4B CWC27 DDX6 DGCR2 DGCR6 DGCR8 DICER1 DIS3L2 DLK1 DLL3 DNAJB4 DNAJC30 DPH1 DPH2 DPP9 DPYSL5 DSE DVL1 DVL3 DYRK1A EED EFEMP2 EHMT1 EIF4H ELN ELOVL4 ESS2 EZH2 FANCB FARSB FAT4 FBLN5 FBN1 FBXW11 FGD1 FGFR1 FIBP FKBP14 FKBP6 FLI1 FLNA FLNB FOCAD FOXE3 FZD2 G6PC3 GALNS GATA4 GATA6 GDF1 GDF11 GLB1 GLI3 GLRA1 GNB2 GNE GNPAT GNPTAB GNS GP1BB GPC3 GPC4 GPHN GRIN2B GTF2I GTF2IRD1 GTF2IRD2 GUSB GZF1 H19 HES7 HEY2 HIRA HMGA2 HSPG2 IDS IDUA IFT122 IGF2 INPP5E IPO8 IRX5 ISL1 JMJD1C KCNQ1OT1 KDM3B KDM5B KIF7 KMT2C LDHD LFNG LIMK1 LOX LRPPRC LTBP1 LTBP4 MAF MAN2B1 MAPK1 MAPRE2 MAT2A MBTPS1 MBTPS2 MDFIC MED12 MED25 MEG3 MEIS2 MESP2 METTL27 MFAP5 MID1 MLXIPL MTFMT MYH11 MYH3 MYLK NAA10 NALCN NAT8L NCF1 NDUFA8 NEU1 NFIA NIPBL NOTCH1 NOTCH2 NOTCH3 NPHP3 NSD1 NXN OCRL ODC1 OFD1 P3H1 PACS1 PAFAH1B1 PHGDH PIEZO2 PIGL PIGQ PIGS PIGW PIGY PIK3R1 PLAG1 PLD1 PLOD1 PLOD2 POGZ POLR2A PORCN PPP2CA PPP2R1A PRDM5 PRKG1 PTDSS1 PUF60 PYCR1 RAB3GAP2 RFC2 RIC1 RIPK4 RIPPLY2 RNF13 ROR2 RPGRIP1L RPL10 RPS6KA3 RREB1 RTL1 SATB2 SEC24C SEC31A SEMA5A SERPINH1 SET SETBP1 SETD2 SGSH SH3PXD2B SHOC2 SHPK SIN3A SKI SKIC2 SKIC3 SLC10A7 SLC26A2 SLC2A10 SLC37A4 SLC5A6 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCB1 SMARCC2 SMCHD1 SRCAP STRA6 STX1A SUZ12 TASP1 TBL2 TBX1 TBX3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMCO1 TMEM107 TMEM270 TMEM67 TMEM70 TNRC6B TOR1A TP63 TRPV6 TRRAP TTC26 TUBB TXNL4A UBA1 UFD1 VPS35L VPS37D WASHC5 WDR19 WDR35 WNT5A XRCC4 YWHAE ZEB1 HP_INHERITANCE_QUALIFIER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INHERITANCE_QUALIFIER ABL1 ACTN4 ACVR1B ADA AIP AKT1 ANO3 APC AR ARHGAP26 ARMC5 ASCC1 ASPSCR1 ASXL1 ATL1 ATM ATN1 ATP11A ATP1A2 ATP1A3 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 AURKA AXIN1 AXIN2 BARD1 BAX BCL10 BCR BMPR2 BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B C1GALT1C1 CACNA1A CACNA1S CACNB4 CALR CASP10 CASP8 CAV1 CBL CCND1 CDC73 CDH1 CDH23 CEBPA CFC1 CHD8 CHEK2 CHIC2 CHRNA2 CHRNA4 CHRNA7 CILK1 CLCN2 COL4A1 COL4A2 CPOX CREB1 CRELD1 CTHRC1 CTLA4 CTNNB1 CYP2A6 DCC DCHS1 DCX DDX41 DEPDC5 DICER1 DLC1 DLST DLX5 DNMT3A DSTYK DZIP1 EGFR EIF2AK1 ELOVL4 ELP1 EP300 EPHB4 ERBB2 ERBB3 ERCC6 ESR1 ETV6 EWSR1 EXT1 EYA1 FASLG FGF23 FGFR1 FGFR2 FGFR3 FH FIGLA FLCN FLT3 FMR1 FOXE3 FOXO1 GABRB3 GABRG2 GATA2 GATA5 GJA5 GJA8 GJB1 GJC2 GLI2 GNAI2 GNAS GNB1 GNB2 GPC3 GPC4 GPR161 GREB1L GRIN2A GUCY2D H19 HCN1 HDAC4 HMMR HNRNPDL HRAS IDH1 IFIH1 IGF2 IGF2R IKZF1 IL1B IL1RN IL6 IL6ST INAVA IRF1 JAG1 JAK2 KANK1 KANSL1 KIF11 KIF1B KIF5A KIT KLF13 KLF6 KMT2B KMT2C KRAS KRIT1 LHCGR LIG4 LPP LRP5 LRRK2 LRSAM1 LZTR1 LZTS1 MAD1L1 MAP3K8 MAPK1 MCC MET MFN2 MINPP1 MKRN3 MLH3 MLLT10 MN1 MNX1 MPL MSH3 MSH6 MSR1 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTOR MUTYH MXI1 MYC MYD88 NBN NEK9 NF1 NF2 NLRP12 NPM1 NPRL2 NPRL3 NQO2 NR4A3 NR5A1 NRAS NRIP1 NRL NUMA1 NUP214 OPA1 OPCML OTULIN PARN PAX2 PAX3 PAX6 PAX7 PDGFB PDGFRA PDGFRL PHB1 PICALM PIGA PIGT PIK3CA PIK3R2 PITX1 PKD2 PLA2G2A PLAG1 POF1B POLR2A POT1 POU6F2 PPM1D PPP2R1B PRCC PRKCG PRKN PROK2 PROKR2 PRPF31 PRPF8 PRRT2 PTCH1 PTCH2 PTEN PTPN11 PTPN12 PTPRJ PUM1 RAD51 RAD54B RAD54L RANBP2 RARA RB1 RB1CC1 RBM12 RELN RHOA RNF6 RORB RPS14 RPS29 RTEL1 RUNX1 SCN1B SCN4A SDHB SEMA6B SF3B1 SGCE SH2B3 SH3GL1 SHH SIX1 SIX3 SLC12A5 SLC22A18 SLC2A1 SLC35A2 SMAD4 SMAD6 SMAD9 SMARCB1 SMARCC1 SMARCE1 SMO SPAST SRC SRD5A2 SRGAP1 SSX2 STAT1 STK11 SUFU TAF15 TAL1 TAL2 TBK1 TENM4 TERC TERT TET2 TFE3 TGFBR2 THAP1 TICAM1 TLR2 TLR3 TM4SF20 TMEM151A TOR1A TP53 TRPV4 TSC1 TSC2 TTN UBA1 UCHL1 USP48 VMA21 VWF WNT10B WT1 WWOX XRCC3 ZBTB7A ZFHX3 HP_INSIDIOUS_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSIDIOUS_ONSET ADH1C ATL1 ATXN2 ATXN8OS CACNA1A EIF4G1 GBA1 GLUD2 MAPT MPZ MT-TT NIPA1 NR4A2 OPA1 PMP22 SNCA SNCAIP SPAST TBP WASHC5 HP_INSISTENCE_ON_SAMENESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSISTENCE_ON_SAMENESS FOXP1 GLRA2 MECP2 NLGN3 NLGN4X SNRPN HP_INSOMNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSOMNIA ABCB11 ABCB4 ATP7B ATP8B1 BAZ1B BCL7B BUD23 CLCNKB CLIP2 CPOX CRY1 DCTN1 DNAJC30 DNAJC6 EIF4H ELN FARS2 FKBP6 GALNT2 GNS GTF2I GTF2IRD1 GTF2IRD2 HCRT HEXB HLA-DQB1 HLA-DRB1 HMBS HTRA2 HTT KAT6A KMT5B LIMK1 LRRK2 MEN1 METTL27 MLXIPL NAGS NCF1 NOL3 NR1H4 PARK7 PDE2A PINK1 PODXL PRKN PRNP PRR12 RFC2 SATB1 SLC12A3 SLC25A13 SLC2A3 SNCA STUB1 STX1A SYNJ1 TBL2 TMEM270 TUBB3 UCHL1 VPS13C VPS37D YY1 ZNF365 HP_INSPIRATORY_STRIDOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSPIRATORY_STRIDOR AGTPBP1 D2HGDH EXOSC3 EXOSC8 EXOSC9 IGHMBP2 KIF22 MIR140 NFASC PLP1 SCN4A SCO2 SERPING1 SLC25A46 SLC52A3 VRK1 HP_INSULINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULINOMA CDKN1A CDKN1B CDKN2B CDKN2C MAFA MEN1 HP_INSULIN_RESISTANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANCE ABCC8 ADCY3 AGPAT2 AKT2 ALMS1 APPL1 ARL6 BBS1 BLK BLM BSCL2 CAV1 CAVIN1 CCDC28B CEL CEP19 CIDEC CLCNKB CNOT1 CYP19A1 DBH DCAF17 EIF2AK3 ENPP1 ERCC6 FOS GATA6 GCK GPD2 GRB10 HMGA1 HNF1A HNF1B HNF4A HSD11B1 HYMAI IGF1 IGF2BP2 IGFALS IL6 INS INSR IRF4 IRS1 IRS2 KCNJ11 KLF11 LEMD2 LEP LEPR LIPC LIPE LMNA LMNB2 MAPK8IP1 MFN2 MICU1 MTNR1B NEUROD1 NSMCE2 PAX4 PDX1 PIK3R1 PLAGL1 PLIN1 PMM2 POLD1 PPARG PPP1R3A PTF1A PTPN1 RETN SLC12A3 SLC2A2 SLC30A8 SLC5A2 STAT3 TCF7L2 WFS1 WRN XRCC4 ZFP57 ZMPSTE24 HP_INSULIN_RESISTANT_DIABETES_MELLITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANT_DIABETES_MELLITUS ABCC8 AGPAT2 AKT2 ALMS1 APPL1 BLK BSCL2 CEL CIDEC CNOT1 DCAF17 EIF2AK3 GATA6 GCK HNF1A HNF4A HYMAI INS INSR KCNJ11 KLF11 LEP LEPR LIPE LMNA MICU1 NEUROD1 NSMCE2 PAX4 PDX1 PIK3R1 PLAGL1 PLIN1 PPARG PTF1A STAT3 XRCC4 ZFP57 ZMPSTE24 HP_INTELLECTUAL_DISABILITY_BORDERLINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_BORDERLINE AASS ALOX12B ALOXE3 CLDN11 CPLX1 ENTPD1 GABRG2 GRIN2A IFT172 KCNMA1 MAGEL2 NDN NRAS NUDT2 OCA2 POMK SCN3A SCN8A SNRPN SRPX2 TBC1D24 TONSL TRAPPC11 TRIO YY1AP1 HP_INTELLECTUAL_DISABILITY_MILD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MILD AASS ABCA2 ABCC9 ACAT1 ACOX2 ACP5 ACTB ACVR1 ADAMTS10 ADAR AFG3L2 AGL AKT1 ALAD ALG1 ALX4 AMER1 AMFR ANK3 ANO10 AP1S2 AP3B1 AP5Z1 APC APC2 ARID1B ARPC4 ARVCF ARX ATL1 ATP13A2 ATP2A2 ATP6AP1 ATP9A B4GALNT1 BBS10 BCOR BIN1 BLM BMPR1A BPTF BRAF BRF1 BRWD3 BSCL2 C12orf57 CA8 CABP4 CAMTA1 CARS1 CDH11 CDK6 CDKL5 CENPJ CEP57 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CLCN4 COG1 COG5 COMT CPLX1 CRBN CRH CSTB CTDP1 CTNNB1 CUL3 CWF19L1 DAG1 DARS1 DCAF17 DCC DCDC2 DEPDC5 DLAT DLK1 DMD DNAJC12 DNAJC19 DNAJC21 DNAJC3 DNAL4 DNMT3A DONSON DPYD DSTYK DYM DYRK1A EDC3 EIF2B4 EMC10 EP300 ERCC4 ERCC6 ERCC8 ERMARD EXOSC2 EXT2 EYA1 EZH2 FAT4 FBN1 FGD1 FGF14 FGFR2 FIBP FKRP FLCN FLNA FMR1 FOXP1 FREM1 FZD4 GABBR2 GALT GATA4 GBA2 GDI1 GLB1 GLI3 GLIS3 GLRA2 GMPPB GNE GNPTG GORAB GP1BB GPAA1 GPSM2 GRIA3 GRIK2 GRIN1 GTPBP3 H19 HCN4 HDAC6 HEATR3 HEPACAM HINT1 HIRA HMGA2 HMGCL HPD HPRT1 HSD17B4 IFT140 IGF1 IGF2 INPP5E ITPR1 JAG1 JAG2 JMJD1C KANSL1 KCNC3 KCNJ8 KCNQ1OT1 KCNT1 KDM6A KIF11 KIF1C KLF13 KMT2B KMT2D L1CAM LEMD3 LRP5 LTBP2 MAGEL2 MAN1B1 MAN2B1 MAP3K7 MARS1 MARS2 MASP1 MCM3AP MECOM MECP2 MED12 MEG3 METTL23 MGP MIA3 MID1 MLC1 MSMO1 MSTO1 MT-ATP6 MT-TL1 MT-TL2 MT-TN MT-TS1 MTHFD1 MTRFR MTSS2 MYCN NAGA NARS2 NDN NDP NF1 NFE2L2 NFIX NGF NKX2-1 NLGN4X NONO NR4A2 NSD1 NSDHL NTN1 NTNG1 NTRK1 NUP54 NUP62 OCA2 ORC1 PAFAH1B1 PCDH19 PCNA PDSS1 PEX10 PEX11B PGAP1 PGAP2 PHF8 PIEZO2 PIK3CA PITRM1 PLP1 PNPLA2 PNPLA6 POGZ POLA1 POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 POU3F4 POU4F1 PQBP1 PRMT7 PRPS1 PRRT2 PSMB8 PSMD12 PTEN PTPN11 PYCR1 RAB39B RAB3GAP2 RAD51 RAF1 RAI1 RARS1 RBPJ RCBTB1 RECQL4 RNF135 RNU4ATAC RPS6KA3 RREB1 RSPRY1 RTL1 RTN4IP1 RUBCN RYR1 SARDH SBDS SCN8A SCYL1 SDCCAG8 SEC24C SELENOI SETBP1 SETD1B SETD2 SFXN4 SH2B1 SHH SIN3A SIN3B SKIC2 SKIC3 SLC12A6 SLC16A2 SLC18A2 SLC25A24 SLC25A36 SLC25A4 SLC29A3 SLC2A1 SLC35A3 SMC1A SMS SNRPN SOX11 SOX3 SPART SPEG SPG11 SPRED2 SPTBN2 SRCAP SRP54 SRPX2 SRY STAC3 SUFU SYN1 TAC3 TAF13 TBC1D24 TBC1D2B TBC1D7 TBX1 TCF20 TFAP2A TFAP2B TH THG1L THOC2 TIMM8A TKT TMEM63C TRIM37 TRIO TSPAN12 TSPOAP1 TTC19 TTN UBE3A UFD1 UPF3B VPS13D VPS16 VRK1 WAC WDFY3 WDR11 WDR48 YY1 ZC4H2 ZFR ZMYM2 ZMYND11 ZNF341 ZNF408 ZNF462 HP_INTELLECTUAL_DISABILITY_MODERATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MODERATE ADCY5 AGO1 AKT1 ALDH18A1 ALX4 ANK3 ANKRD11 AP1S2 APC APC2 ARID1A ARID1B ARID2 ARX ASXL3 CACNG2 CAMKMT CASK CC2D2A CCNK CDH11 CDK5RAP2 CENPJ CHRNA7 CLCN4 CNTNAP2 COG1 COG5 COL1A2 COQ4 COQ8A CPLX1 CUL4B CWC27 CWF19L1 DCHS1 DMXL2 DNMT3A DPAGT1 DPF2 EBP EGF ENTPD1 EXT2 FAT4 FBLN1 FGFR2 FGFR3 FMR1 FOXP1 FTSJ1 FZR1 GLUD1 GRIA3 GRIN1 GRIN2A GTF2E2 HMGCL HNRNPK HPRT1 HYCC1 IL1RAPL1 INPP5E KANSL1 KDM5B KIF5A KLF13 L1CAM LAMA1 MAB21L2 MAGEL2 MAN1B1 MECP2 MED12 MED13L MED25 MT-TE NCAPD2 NCAPH NDN NDUFAF1 NDUFAF5 NFIX NHS NSD1 NSUN2 OCA2 OPHN1 PAX1 PCDH19 PDE2A PGAP1 PGAP2 PGAP3 PGM3 PIGL PIGO PIGV PIGW PIGY PLP1 POLR3A POLR3B PPM1B PPP2R5D PREPL PRMT7 PRPS1 PSPH PTDSS1 PTRH2 PUF60 RBMX RDH11 RNU4ATAC RPGRIP1L RSPRY1 RTTN SARS1 SATB2 SCN1A SETBP1 SETD2 SHANK3 SHMT2 SLC16A2 SLC35A3 SLC3A1 SLC45A1 SLC9A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMOC1 SNRPN SOX11 SOX4 SPATA5 SRCAP STAG2 SYNGAP1 TAF1 TBC1D24 TBCD TCF4 TDO2 TGM6 THOC2 TMEM67 TMEM70 TOR1A TTI2 TWIST1 UBE2A UROC1 USP9X VPS16 WARS2 WDFY3 WDR62 XYLT1 YY1 ZBTB11 ZNF711 HP_INTELLECTUAL_DISABILITY_PROFOUND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROFOUND ADAM22 ADAR AIMP2 AP1S2 ARV1 ASXL1 ASXL3 ATIC ATP6V0A2 ATP6V1A ATP6V1E1 BUB1B CACNA2D1 CCDC88A CDKL5 CLIC2 CNPY3 CRPPA DIAPH1 DMXL2 DPH5 DPM3 DPYD ELOVL4 EMC1 ERCC6 EXOSC5 FAR1 FGF12 FGFR3 FH FKRP FKTN GAD1 GRIN1 GUF1 HSPD1 IDS IER3IP1 IFIH1 KCNJ6 LARGE1 LONP1 LSM11 MECP2 MED23 NACC1 NAPB NDE1 NGLY1 NSF NUP133 OCLN OFD1 P4HTM PAFAH1B1 PCDH12 PCDH19 PDHA1 PIGG PIGP PIGU PIK3R2 POMGNT1 POMT1 POMT2 PRPS1 PRUNE1 PUS3 RAB18 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNU7-1 SAMHD1 SCN1A SCN8A SEPSECS SETBP1 SETD1B SLC16A2 SLC1A2 SLC39A8 SLC9A6 SMS SPTAN1 ST3GAL3 STRA6 STXBP1 SYNJ1 TBC1D20 TBC1D2B TBCD TRAPPC4 TREX1 UBTF UGP2 UNC80 VARS1 VPS53 WARS2 WASHC4 WDR45B ZNHIT3 HP_INTELLECTUAL_DISABILITY_PROGRESSIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE ACOX1 AIFM1 AP4M1 ARX ATRX B3GLCT CTSD DDB2 DMPK ERCC2 ERCC3 ERCC4 ERCC5 GCH1 KAT6B KCNH1 L2HGDH MECP2 MTRR NDE1 NDP NKX2-5 PEX1 PTS RAB3GAP2 SLC16A2 SLC35C1 SLC9A6 SNAP29 SNRPN SUCLA2 TCF4 TK2 TONSL TSHB UBE3A WDR81 XPA XPC HP_INTELLECTUAL_DISABILITY_SEVERE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_SEVERE ABCC8 ACAT1 ACER3 ACO2 ACOX1 ACSL4 ACTL6B ADCY5 ADGRG1 AHSG AKT3 ALG13 ALG14 ALG2 AMMECR1 AMT ANKLE2 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARFGEF2 ARG1 ARHGEF9 ARID1A ARID1B ARID2 ARX ASPM ASXL1 ASXL3 ATIC ATP9A ATRX BCAP31 BCAS3 BCORL1 BRD4 BRF1 C2CD3 CA2 CACNA1D CAMK2A CAMK2G CC2D1A CCND2 CCNK CDC40 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CEP85L CHRNA7 CIT CLCN4 CNTNAP2 COG5 COLGALT1 COPB1 COPB2 CPLX1 CRBN CTBP1 CTNNA2 CTNND2 CTSD CUL3 CUL4B CYB5A CYB5R3 DAG1 DCHS1 DLAT DMPK DNMT3A DPAGT1 DPF2 DPYSL5 DYM DYNC1I2 DYRK1A EEF1A2 EHMT1 EIF2S3 EML1 EPB41L1 ERLIN2 EXT2 FAT4 FCSK FGF13 FGFR3 FGFRL1 FKRP FKTN FOXE1 FOXG1 FOXP1 FRMD4A FRRS1L FTCD FUCA1 FZR1 GABBR2 GABRA5 GALNT2 GAMT GATAD2B GCK GDI1 GLI3 GMPPB GNAO1 GNB5 GOT2 GRIA1 GRIA3 GRIN1 GRIN2A HDAC8 HERC1 HMGCL HNMT HNRNPH1 HNRNPK HNRNPU HPD HSD17B10 HTT INPP5E INS IQSEC1 IQSEC2 KANSL1 KAT5 KAT6A KAT6B KCNC2 KCNE5 KCNH1 KCNJ11 KCNJ6 KDM5C KIF14 KIF1A KIF5C KIF7 KLF13 KMT2B KNL1 L1CAM L2HGDH LARGE1 LARP7 LETM1 LINGO1 LMAN2L LMX1B MACF1 MAN1B1 MBD5 MBTPS2 MCM7 MCPH1 MECP2 MEF2C METTL5 MFSD2A MGAT2 MPDU1 MT-ATP6 MTOR NACC1 NAGA NALCN NANS NCAPD3 NDE1 NELFA NEU1 NFIX NIN NIPBL NKX2-1 NKX2-5 NRXN1 NSD1 NSD2 NTRK2 NUP37 OCA2 OFD1 OPHN1 OTUD6B PAFAH1B1 PAH PAK1 PAK3 PAX8 PCDH19 PCNA PDHX PDX1 PEX1 PEX5 PEX7 PGAP1 PGAP2 PGAP3 PHC1 PHF6 PHYH PIGF PIGG PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3CA PLEKHG2 PLP1 PNKP POGZ POMGNT1 POMT1 POMT2 PPIL1 PPP1R15B PPP2R1A PPP2R5D PQBP1 PRMT7 PRSS12 PRUNE1 PSMB1 PSMC1 PTEN PURA PUS3 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAB5IF RAC3 RAD21 RFT1 RNF2 ROGDI RPL10 RTTN SARS1 SASS6 SATB1 SATB2 SCN1A SCN2A SCN8A SEMA5A SEMA6B SETBP1 SETD2 SHMT2 SHROOM4 SIN3A SLC12A2 SLC13A5 SLC16A2 SLC1A2 SLC25A15 SLC26A4 SLC35A2 SLC35A3 SLC35C1 SLC6A17 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SNAP29 SNRPN SNX14 SOBP SON SOX11 SOX4 SPATA5 SPTAN1 SPTBN4 SRD5A3 STAG1 STAT3 STIL STXBP1 SUCLG1 SUOX SYNGAP1 TAF13 TBC1D20 TBC1D23 TBR1 TCF4 TELO2 TFE3 THOC2 THOC6 TIMM50 TMEM107 TMEM163 TMEM231 TMEM237 TMX2 TOR1A TPR TRAPPC10 TRAPPC14 TRAPPC6B TRAPPC9 TRIM8 TRMT10A TSHB TSHR TTI2 TUBA1A TUSC3 UBA5 UBE2A UBE3A UBE3B UBE3C UBE4A UBTF UNC80 UQCRQ VPS4A WARS1 WASF1 WDR11 WDR62 WDR81 WIPI2 YY1 ZBTB18 ZEB2 ZNF407 ZNHIT3 HP_INTERCOSTAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERCOSTAL_MUSCLE_WEAKNESS ACTA1 HACD1 ITGA7 LAMA2 MAP3K20 MYL2 SELENON TPM2 TPM3 TRPV4 VRK1 HP_INTERHEMISPHERIC_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERHEMISPHERIC_CYST CDH2 DCC L1CAM LMNB2 MAN2C1 PLCH1 RNU4ATAC HP_INTERICTAL_EEG_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERICTAL_EEG_ABNORMALITY AARS1 AASS ABAT ABCC8 ACTL6B ADARB1 ADGRG1 ADGRV1 ADK AGRN AIMP2 AKT3 ALDH4A1 ALDH7A1 ALG1 ALG11 ALG13 ALG14 ALG2 ALG3 AMT AP2M1 AP3B2 APC2 ARFGEF1 ARFGEF2 ARHGEF9 ARV1 ARX ASNS ASPA ATAD1 ATN1 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP7A ATXN10 BRAT1 C1QBP CABP4 CACNA1A CACNA1B CACNA1E CACNA1G CACNA1H CACNA2D1 CACNB4 CAMK2A CAMSAP1 CARS2 CASK CCDC88A CDK19 CDK5 CDKL5 CELF2 CHAT CHD2 CHRNA2 CHRNA4 CHRNB2 CILK1 CLCN2 CLCN4 CLN5 CLN8 CLTC CLTCL1 CNKSR2 CNPY3 CNTN2 CNTNAP2 COL13A1 COX4I1 CPA6 CPLX1 CRH CSTB CTNNA2 CUL3 CUX2 CYFIP2 D2HGDH DAG1 DALRD3 DCX DEPDC5 DHDDS DMXL2 DNM1 DNM2 DOCK7 DOLK DPAGT1 DPM2 DPYD EEF1A2 EFHC1 EPM2A ERMARD EXOC8 FBXO28 FGF12 FGF13 FRRS1L FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB1 GABRB2 GABRB3 GABRD GABRG2 GAD1 GFM2 GLS GLUD1 GLYCTK GNAO1 GNB1 GNB5 GOLGA2 GOSR2 GRIA1 GRIA3 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GRN GUF1 HCFC1 HCN1 HIBCH HID1 HMGCL IARS2 IER3IP1 IQSEC2 JRK KANSL1 KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KCTD7 KIF1A LGI1 LONP1 LRPPRC MAP1B MAPK10 MDH1 MECP2 MED13L MED17 MFF MGAT2 MOGS MPDU1 MT-TL1 MTOR MYD88 MYO9A NACC1 NARS2 NAXD NBEA NDUFAF8 NECAP1 NEDD4L NEUROD2 NEXMIF NF1 NHLRC1 NPRL2 NPRL3 NSF NSRP1 NTRK2 NUS1 OGDHL P4HTM PACS2 PAFAH1B1 PARS2 PCDH12 PCDH19 PDE2A PDHA1 PGAP2 PGAP3 PHACTR1 PHGDH PI4KA PIDD1 PIGA PIGG PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PIK3CA PLAA PLCB1 PLPBP PNKP PNPO POLG PPFIBP1 PPP3CA PRICKLE1 PRKAG2 PRPS1 PRRT2 PSAT1 PTPN23 PTS RELN RNF13 ROGDI RPL10 RUSC2 SAMD12 SATB1 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SETBP1 SETD1B SIK1 SLC12A5 SLC12A6 SLC13A5 SLC18A3 SLC1A2 SLC1A4 SLC25A1 SLC25A10 SLC25A22 SLC25A46 SLC2A1 SLC32A1 SLC35A2 SLC38A3 SLC39A8 SLC5A7 SLC6A1 SLC9A6 SMC1A SNAP25 SPATA5 SPTAN1 SPTBN1 SRPX2 ST3GAL3 ST3GAL5 STARD7 STRADA STX1B STXBP1 SUOX SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TBC1D24 TBC1D2B TBCK TBL1XR1 TFE3 TGFB1 TIMM50 TRAK1 TRAPPC12 TRIM8 TRPM3 TUBB2A TUBGCP2 UBA5 UBE3A UFC1 UGDH UPB1 VAMP1 VARS1 VARS2 WDR45 WWOX YEATS2 YME1L1 YWHAG ZNF148 ZNF526 ZNHIT3 HP_INTERMEDIATE_YOUNG_ADULT_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMEDIATE_YOUNG_ADULT_ONSET ATP6AP2 ATP7B C14orf39 CACNB4 CHRNA1 ENG FIG4 GATA2 GRN JAK2 KCNJ11 RNASEH1 SLC12A5 SLC22A12 SOST SYNJ1 TP53 YARS1 HP_INTERMITTENT_CLAUDICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_CLAUDICATION ABCC6 AGXT JAK2 MPL NT5E TET2 XYLT1 XYLT2 HP_INTERMITTENT_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_DIARRHEA ACSF3 ATP6V0A1 ATRX BRCA1 BRCA2 CDKN2A COG4 DAXX DOCK2 G6PC1 GATA6 KRAS PALB2 PALLD POLG RABL3 SMAD4 TLK2 TP53 TYMP UBE3C ZNFX1 HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS AGRN CHAT CHRNA1 COL13A1 MYH7 MYO9A SELENON SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 TTN VAMP1 HP_INTERMITTENT_HYPERVENTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_HYPERVENTILATION CASK CNTNAP2 FBP1 MECP2 TCF4 HP_INTERMITTENT_JAUNDICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_JAUNDICE ABCB11 ATP8B1 KCNN4 PIEZO1 RHAG SLC4A1 SLCO1B1 SLCO1B3 SPTB HP_INTERMITTENT_THROMBOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_THROMBOCYTOPENIA G6PC3 GP1BA TFRC WAS WDR1 HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS ACTN2 ANO5 LAMA2 NOTCH2NLC RYR1 SQSTM1 TTN HP_INTEROSSEUS_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTEROSSEUS_MUSCLE_ATROPHY BSCL2 GARS1 REEP1 SLC5A6 TOR1AIP1 HP_INTERPHALANGEAL_JOINT_EROSIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERPHALANGEAL_JOINT_EROSIONS CD244 CIITA IL10 MMP2 NFKBIL1 PTPN22 SLC22A4 HP_INTERRUPTED_AORTIC_ARCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERRUPTED_AORTIC_ARCH CHD7 DGCR2 DGCR6 DGCR8 DIS3L2 ESS2 FGFR1 FOXF1 GATA6 KRAS MMP21 MYCN MYRF NKX2-6 PLXND1 SEMA3E SMG9 SUCLG1 TBX1 TMEM260 HP_INTERRUPTED_INFERIOR_VENA_CAVA_WITH_AZYGOUS_CONTINUATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERRUPTED_INFERIOR_VENA_CAVA_WITH_AZYGOUS_CONTINUATION ACVR2B DNAH9 KDM3B MMP21 SMOC1 HP_INTERSTITIAL_CARDIAC_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_CARDIAC_FIBROSIS ACTC1 DOLK FLNC KIF20A LMNA MYH7 MYPN RPL3L TNNI3 TNNT2 HP_INTERSTITIAL_PNEUMONITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_PNEUMONITIS ABCA3 DOCK2 FOXP3 HCK HLA-DPB1 IL2RB PLCG2 RAG1 SFTPA1 SFTPB SFTPC STAT3 STAT5B TERC TERT TINF2 HP_INTERVERTEBRAL_DISC_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_DISC_DEGENERATION HGD LMNA MATN3 SMAD2 SMAD3 TBX1 HP_INTERVERTEBRAL_SPACE_NARROWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_SPACE_NARROWING BPNT2 CHST3 COL2A1 FN1 LTBP3 MT-ATP8 MT-TL1 RRM2B TRAPPC2 HP_INTESTINAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_ATRESIA AP1S1 BUB1 BUB1B BUB3 CAMK2A CDON CENPF CEP57 CFAP45 CHD7 CHRM3 CLMP COX7B DIS3L2 DISP1 DLL1 DYRK1A FANCB FANCF FBN2 FGF8 FGFR1 FLI1 FOXF1 FOXH1 FREM2 GAS1 GLI2 GMPPB HCCS ITGA6 ITGB4 KDM3B MIR17HG MYCN MYH11 NDUFB11 NODAL PI4KA PIGN PORCN PPP1R12A PTCH1 RAD51C RERE RFWD3 RFX6 RTTN SALL1 SHH SIN3A SIX3 SLC25A12 SON SPINK5 STAG2 SUFU TCTN3 TDGF1 TGIF1 TRIP13 TTC7A WBP11 ZIC2 ZIC3 ZNF699 HP_INTESTINAL_BLEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_BLEEDING APC BMPR1A CTC1 PTEN STK11 TEK HP_INTESTINAL_CARCINOID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_CARCINOID CDKN1A CDKN1B CDKN2B CDKN2C MEN1 SDHD HP_INTESTINAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_FISTULA B3GLCT CCNQ CD3G CDK8 DACT1 DDB1 DOCK2 ELF4 FREM1 IL10RB JAK3 KDM6A KIF7 KMT2D LONP1 MID1 MKKS MNX1 NCF4 PI4KA PIGN PKP1 POLR1B POLR1C POLR1D RECQL4 RNU12 SALL1 SALL4 SPINT2 SYK TCOF1 TCTN3 TGFB1 UBR1 HP_INTESTINAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_HYPOPLASIA ACTG2 AP1S1 CLMP DOK7 FLNA GATA6 GUCY2C KIF21A LMNA LMOD1 MUSK MYH11 MYLK MYOD1 NUP88 RAPSN SLC18A3 SOX10 TUBA1A ZMPSTE24 HP_INTESTINAL_MALROTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_MALROTATION ABL1 ACTA2 ACTG2 ALG12 AMER1 ARID1B ARVCF ASXL1 ASXL3 BCOR BRD4 CAMK2A CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCNO CENPF CFAP221 CFAP298 CFAP300 CFAP45 CFAP74 CFC1 CHRM3 CHST14 CLMP COMT CPLX1 CREBBP CTBP1 DHCR24 DHCR7 DHODH DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DPYSL5 DRC1 DSE DYNC2H1 EP300 ERBB3 EXT2 EYA1 FARSB FBN2 FGFR2 FGFRL1 FLI1 FLNA FLNB FOXF1 FOXJ1 FREM2 GAS2L2 GAS8 GATA6 GP1BB GPC3 GPC4 HDAC8 HIRA HMGA2 HNRNPU HYDIN IFT43 IPO8 ISL1 JMJD1C KAT6A KAT6B KDM6A KMT2D LEMD3 LETM1 LMOD1 LONP1 LRP2 LRRC56 MCIDAS MED12 MKS1 MMP21 MYH11 MYLK MYRF NEK1 NEK10 NIPBL NME5 NME8 NODAL NOTCH2 NPHP3 NSD2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PI4KA PIGN PORCN RAD21 RARB RFX6 ROBO1 RPGR RREB1 RSPH1 RSPH3 RSPH4A RSPH9 SALL4 SEC24C SETD5 SIX1 SLC12A2 SMAD2 SMC1A SMC3 SMO SPAG1 SPEF2 SPINT2 STK36 TBX1 TFAP2A TMEM216 TMEM94 TP63 TTC12 TTC7A UBE3B UFD1 VPS35L WASHC5 WNT4 ZFPM2 ZMYND10 ZPR1 HP_INTESTINAL_PERFORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PERFORATION B2M C1R GATA6 POLG TYMP HP_INTESTINAL_POLYP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_POLYP ABCD1 ACVRL1 AKT1 APC ATP7A AXIN2 BMPR1A BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 CTNNB1 DICER1 ECE1 EDN3 EDNRB ENG EPCAM ERBB2 ERBB3 FAN1 FLCN GDF2 GDNF GNAS GREM1 HEPACAM KEAP1 KLLN KRAS MBD4 MDM2 MLH1 MLH3 MSH2 MSH3 MSH6 MTOR MUTYH NRTN NTHL1 PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PTCH1 PTEN RET RNF43 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SMAD4 SMO SREBF1 STK11 TGFBR2 TP53 TRIP13 USF3 HP_INTESTINAL_PSEUDO_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PSEUDO_OBSTRUCTION ACTG2 BRCA1 BRCA2 CDKN2A ERBB3 FLNA HNRNPK IDS KRAS LIG3 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYH11 PALB2 PALLD POLG RABL3 RAD21 SGO1 SMAD4 SMO TP53 TWNK TYMP HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION ABCA3 CSF2RA CSF2RB HLA-DRB1 MARS1 OAS1 SFTPB SFTPC SLC7A7 HP_INTRACEREBRAL_PERIVENTRICULAR_CALCIFICATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACEREBRAL_PERIVENTRICULAR_CALCIFICATIONS CPT2 IFIH1 SAMHD1 SLC2A1 SNORD118 TREX1 HP_INTRACRANIAL_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACRANIAL_HEMORRHAGE ABCC6 ACAD9 ACTA1 ACTA2 ACVRL1 ADA2 AKT1 ALPL ANGPTL6 APP ATP7A BAP1 BICD2 BRCC3 CACNA1D CBS CCM2 CD109 CD46 CFH CFI CLCN2 COL3A1 COL4A1 COL4A2 CPT2 CST3 CYP11B1 CYP11B2 CYP26C1 DHPS DLST DNM2 DNMT3A DOCK8 DPAGT1 ELN ENG EPAS1 EPOR ERCC6 ERCC8 EXT2 F10 F13A1 F13B F2 F5 F7 F8 FBN1 FCGR2C FGA FGB FGG FH FLNA FN1 FOXE3 GAA GATA2 GBA1 GCDH GDF2 GGCX GNAQ GP1BA GP1BB HADHB HELLPAR HEY2 IKBKG IPO8 ITGA2 ITGA2B ITGB3 IVD JAK2 KANSL1 KCNJ5 KIF1B KRIT1 LMAN1 LMBRD1 LMNA LMOD2 LOX MARS2 MAT2A MAX MCFD2 MDH2 MFAP5 MMACHC MMUT MYH11 MYLK NDE1 NF1 NF2 NFIA NOTCH3 PCCA PCCB PDCD10 PDGFB PET100 PIK3CA PMM2 PRKG1 PROS1 PTEN RASA1 RBM10 RET RNF168 SAMD9 SDHA SDHAF2 SDHB SDHC SDHD SERPINE1 SERPINF2 SH2B3 SIN3A SLC25A11 SMAD2 SMAD3 SMAD4 SMARCB1 SMARCE1 SMO SNORD118 SPARC STAT2 STIM1 STT3A SUFU TERT TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TMEM127 TMEM237 TRAF7 USP18 VHL WAS WIPF1 ZMPSTE24 HP_INTRACTABLE_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACTABLE_DIARRHEA C5 EPCAM ITGB4 PLEC SKIC2 SKIC3 SMARCD2 SYK HP_INTRAHEPATIC_BILE_DUCT_DILATATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAHEPATIC_BILE_DUCT_DILATATION KIF3B MED12 TMEM67 TTC26 WDR19 HP_INTRAHEPATIC_BILIARY_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAHEPATIC_BILIARY_ATRESIA CC2D2A CLDN1 INPP5E RPGRIP1L TCTN3 TMEM67 VPS33B HP_INTRAMUSCULAR_HEMATOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAMUSCULAR_HEMATOMA F10 F13A1 F13B F2 F7 F8 SERPINE1 SERPINF2 HP_INTRAUTERINE_GROWTH_RETARDATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAUTERINE_GROWTH_RETARDATION AARS1 ABCB7 ABCC8 ABCD1 ABL1 ACADS ACD ADAR ADAT3 ADGRG1 ADGRG6 ADNP AFF2 ALDH18A1 ALG1 ALG12 ALG8 ALX4 AMFR APPL1 ARCN1 ARID1A ARID1B ARID2 ARL6IP6 ARVCF ASNS ASXL1 ASXL2 ASXL3 ATP5F1A ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP AUTS2 B3GLCT BCAP31 BCR BCS1L BIN1 BLK BLM BMPER BRAF BRCA1 BRCA2 BRD4 BRIP1 BRPF1 BUB1 BUB1B BUB3 C1QBP CANT1 CARS1 CCDC134 CCDC8 CCNQ CDC42BPB CDC45 CDC6 CDCA7 CDK10 CDK13 CDKN1C CDON CDT1 CEL CENPE CENPJ CEP152 CEP290 CEP57 CHD7 CHRNA1 CHRND CHRNG CITED2 CKAP2L CLCN7 CLPB CNOT1 COG1 COG4 COG5 COG6 COG7 COMT COQ4 COQ7 COQ9 CORIN COX11 COX16 COX6B1 CPLX1 CREBBP CRKL CRTAP CTBP1 CTC1 CTDP1 CTNND2 CTSK CTU2 CUL7 CWC27 DBR1 DCLRE1B DDX11 DDX3X DEF6 DHCR24 DHCR7 DHDDS DISP1 DKC1 DLK1 DLL1 DLL3 DNA2 DNAJB4 DNAJC19 DNAJC21 DNMT3A DOK7 DONSON DPF2 DPP9 DSP DST DYNC2LI1 DYRK1A EFEMP2 EIF5A ELAC2 ELN EMG1 EP300 EPB41L1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 EVC EVC2 EXOSC9 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FBLN5 FBN1 FDFT1 FGF8 FGFR1 FGFRL1 FIG4 FKTN FLI1 FLNB FLT1 FLT4 FLVCR2 FMR1 FOCAD FOXH1 FOXP2 FOXRED1 FRA10AC1 FTO FUT8 FZR1 GAS1 GATA4 GATA5 GATA6 GATAD2B GATB GATC GBA1 GCK GDF1 GFM1 GFM2 GINS1 GJA5 GLB1 GLDN GLI1 GLI2 GLI3 GLIS3 GMNN GNA11 GNAS GON7 GP1BB GPKOW GRB10 GTF2E2 GTF2H5 GTPBP3 GUF1 H19 HADH HBB HDAC6 HDAC8 HERC2 HES7 HHAT HIRA HMGA2 HNF1A HNF4A HOXD13 HSD11B2 HYLS1 HYMAI IARS1 IBA57 IDH1 IFIH1 IGF1 IGF1R IGF2 IGHMBP2 IL6ST INS INSR ITPA JAG1 JAM2 JMJD1C JUP KANSL1 KAT6A KATNB1 KCNJ11 KDM6A KDR KIF14 KIF21A KIF2A KIF5C KLF11 KMT2A KMT2B KMT2D LAGE3 LAMA5 LARS2 LEMD2 LEMD3 LETM1 LFNG LIFR LIG4 LMBRD1 LMNA LONP1 LRRC32 LTBP1 MAD2L2 MADD MAGEL2 MAPK1 MBTPS2 MCM4 MCM5 MCTP2 MED11 MED12 MEG3 MESD MESP2 MKRN3 MKS1 MLXIPL MMACHC MPLKIP MRPS25 MRPS28 MT-ND1 MT-ND2 MT-ND3 MT-TL1 MTHFR MTO1 MTRR MUSK MYH3 MYOD1 MYORG NAA10 NADK2 NALCN NBN NCAPG2 NDE1 NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK9 NELFA NEUROD1 NF1 NFE2L2 NFIX NHP2 NIN NIPBL NKX2-5 NKX2-6 NODAL NOP10 NOS3 NPAP1 NPM1 NRCAM NSD2 NSDHL NSUN2 NUAK2 NUBPL NUP107 NUP133 NUP188 NUP85 NUP88 NUS1 OBSL1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B P4HB PAH PALB2 PARN PAX4 PCDH12 PCGF2 PCNT PDE4D PDE6D PDGFB PDGFRB PDHA1 PDHB PDX1 PET100 PEX2 PEX5 PHGDH PI4KA PIEZO2 PIGG PIK3R1 PKLR PLAG1 PLAGL1 PLK4 PLOD3 PLXND1 PNPT1 POGZ POLA1 POLE POLR3A POP1 POT1 PPP1R15B PPP2R5D PRDM13 PRIM1 PRKACA PRKACB PRKAR1A PRKDC PRMT7 PRORP PRPS1 PSAT1 PSPH PTCD3 PTCH1 PTDSS1 PTF1A PTPN11 PUF60 PWAR1 PWRN1 PYCR1 QRICH1 QRSL1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RB1 RBBP8 RBM10 RECQL4 RELN RERE RFWD3 RFX6 RHAG RHCE RHD RIPK4 RIPPLY2 RMRP RNASEH2A RNF113A RNF2 RNU4ATAC RNU7-1 RPL10 RPL11 RPS19 RREB1 RTEL1 RTL1 RTTN SAMD9 SATB1 SC5D SCO1 SCUBE3 SDHA SDHAF1 SDHB SDHD SEC24C SEC24D SEC31A SEC61A1 SEMA3E SEMA5A SF3B4 SFXN4 SHH SHQ1 SIN3A SIX2 SIX3 SKIC2 SKIC3 SLC18A3 SLC20A2 SLC25A13 SLC25A24 SLC26A2 SLC30A9 SLC35A2 SLC35C1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOX11 SOX4 SPTBN1 SRPX2 STAG1 STAT3 STN1 STOX1 STRA6 STT3A STT3B SUCLG1 SUFU TAF1 TALDO1 TAPT1 TARS1 TBC1D20 TBCE TBX1 TBX4 TBX6 TCTN3 TDGF1 TELO2 TERC TERT TFAM TFAP2A TGDS TGIF1 TIMM22 TIMMDC1 TINF2 TMEM126B TMEM216 TMEM70 TONSL TOP3A TOR1A TP53RK TPRKB TRAF7 TRAIP TRAPPC11 TRIM37 TRIP13 TRMT10A TSFM TTC7A TUBA1A TUBGCP4 TUBGCP6 TUFM TYMS UBE2T UBE3C UBR1 UFD1 UNC80 UQCC2 UQCRFS1 USB1 USP9X VANGL2 VPS13B WARS2 WASHC5 WDR4 WDR73 WNT4 WNT7A WNT7B WRAP53 XPR1 XRCC2 XRCC4 XYLT1 YIF1B YRDC YY1 ZBTB18 ZFP57 ZFPM2 ZIC2 ZMPSTE24 ZMYM2 ZNF335 ZNF699 ZPR1 HP_INTRAVENTRICULAR_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAVENTRICULAR_HEMORRHAGE F8 KANSL1 LMBRD1 MARS2 NFIA PET100 RNF168 SPARC HP_INTRA_EPIDERMAL_BLISTERING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRA_EPIDERMAL_BLISTERING CDSN ITGB4 KRT14 KRT5 PLEC HP_INTRA_ORAL_HYPERPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRA_ORAL_HYPERPIGMENTATION ABCD1 ATRX BRAF CDH23 MTX2 NR3C1 TP53 USP48 USP8 HP_INTRINSIC_HAND_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRINSIC_HAND_MUSCLE_ATROPHY CAV3 CHCHD10 CHRNA1 DYSF FLNC GDAP1 HARS1 HINT1 HSPB3 JAG1 KIF1A KLHL9 LDB3 MORC2 MPZ NGLY1 PDK3 PMP22 PRX RYR1 SLC12A6 SPTLC1 SQSTM1 SVBP TIA1 TIMM8A TRIM2 VCP HP_INTUSSUSCEPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTUSSUSCEPTION ARID1B BMPR1A GREM1 PDGFRA PTEN SMAD4 STAT1 STK11 UNC45A HP_INVERTED_NIPPLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVERTED_NIPPLES ACOX1 ALG11 ALG12 ALG2 ALG3 ALG8 ALG9 ATN1 B4GALT1 BICRA C18orf32 CACNA1C COG7 DEF6 DLK1 DPAGT1 DPM1 EBF3 EZH2 HNRNPK INTU JARID2 KAT6A KMT2B LBR MAN1B1 MEG3 MGAT2 NFIX PEX3 PIGT PMM2 RERE RFT1 RTL1 SET SLC25A46 SLC35A2 SOX6 SRD5A3 STT3A TBX3 TCF20 TWIST2 WAC WASF1 HP_INVOLUNTARY_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVOLUNTARY_MOVEMENTS AARS1 AARS2 AASS ABCA7 ABCB11 ABCB4 ABCB6 ABCB7 ABCC8 ABCD1 ABHD12 ABHD16A ACAT2 ACBD5 ACO2 ACP5 ACTL6B ADA2 ADAMTS13 ADAR ADCY5 ADGRG1 ADGRV1 ADH1C ADPRS ADRA2B ADSL AFF3 AFG3L2 AGTPBP1 AHI1 AIFM1 AKT1 AKT3 ALDH18A1 ALS2 AMACR AMPD2 AMT ANO10 ANO3 ANOS1 ANXA11 AP1S2 AP2M1 AP3B2 AP5Z1 APC2 APOE APP APTX AR ARL13B ARL3 ARMC9 ARSA ARV1 ARX ASAH1 ASNS ATAD1 ATCAY ATG7 ATL1 ATM ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP2A1 ATP2B3 ATP5MK ATP6AP2 ATP6V0A1 ATP6V1A ATP6V1B2 ATP7A ATP7B ATP8B1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH B9D1 B9D2 BANK1 BAP1 BAZ1B BCL7B BEAN1 BICD2 BLK BOLA3 BRAT1 BSCL2 BUD23 C19orf12 C4A C4B CA8 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA1H CACNA1S CACNA2D1 CACNA2D2 CACNB4 CAMK2A CAMLG CAMTA1 CAPN1 CARS1 CARS2 CASK CASR CAV1 CBY1 CC2D2A CCDC141 CCDC88A CCDC88C CCNF CCT5 CD28 CD40LG CDC42BPB CDH23 CDK19 CDKL5 CELF2 CEP104 CEP120 CEP126 CEP41 CEP85L CERS1 CHCHD10 CHCHD2 CHD2 CHD7 CHKA CHMP1A CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CILK1 CIZ1 CLCN2 CLCN4 CLCN7 CLIP2 CLN3 CLN5 CLN6 CLN8 CLPB CLTC CNKSR2 CNPY3 CNTN2 COA7 COG8 COL25A1 COL6A3 COQ2 COQ5 COQ6 COQ8A COX20 COX4I1 CP CPLANE1 CPLX1 CR2 CRAT CRH CRLS1 CRYAB CSPP1 CSTB CTC1 CTDP1 CTH CTLA4 CTNND2 CTSF CUL4B CUX2 CWF19L1 CYB5A CYB5R3 CYFIP2 CYP27A1 CYP7B1 DAB1 DALRD3 DARS2 DCAF17 DCC DCTN1 DDC DDOST DEAF1 DENND5A DEPDC5 DHDDS DHFR DHX30 DLAT DLST DMD DMXL2 DNAJC13 DNAJC19 DNAJC30 DNAJC5 DNAJC6 DNASE1 DNM1 DNM1L DNMT1 DNMT3A DOCK7 DPAGT1 DPM1 DPYSL5 DRD2 DRD3 DTYMK DUSP6 DYSF EEF1A2 EEF2 EFHC1 EGR2 EIF2AK2 EIF4G1 EIF4H ELN ELOVL1 ELOVL4 ELOVL5 ELP2 EMILIN1 EPAS1 EPM2A EPRS1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ETS1 EXOSC3 EXOSC8 EXOSC9 FA2H FAM149B1 FAR1 FARS2 FBXL4 FBXO28 FBXO38 FBXO7 FCGR2B FCGR3B FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FH FKBP6 FKRP FLRT3 FLVCR1 FMR1 FOXG1 FOXRED1 FRMD5 FRMPD4 FRRS1L FTL FUS FXN FXR1 FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALT GAMT GBA1 GBA2 GCDH GCH1 GCK GFAP GFM2 GGT1 GIGYF2 GJA5 GJA8 GJB1 GJC2 GLA GLB1 GLDC GLRA1 GLRB GLRX5 GLUD2 GLYCTK GM2A GMPPB GNA11 GNAO1 GNAS GNB1 GOLGA2 GON7 GOSR2 GPAA1 GPHN GPR88 GPT2 GRIA2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM1 GRM7 GRN GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUF1 HACE1 HCFC1 HCN1 HESX1 HEXB HIBCH HIKESHI HINT1 HLA-DQB1 HLA-DRB1 HMBS HMGA2 HMGCL HNF4A HNRNPA1 HNRNPA2B1 HNRNPU HPCA HPRT1 HS6ST1 HSD17B10 HSD17B4 HSPB1 HSPD1 HTRA2 HTT HYCC1 HYLS1 IFIH1 IFRD1 IFT74 IGHG1 IL10 IL17RD IMPDH2 INPP5E IRAK1 IREB2 IRF2BPL IRF4 IRF5 ITGAM ITM2B ITPA ITPR1 JAG1 JAZF1 JPH3 JRK KARS1 KATNIP KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNJ10 KCNJ18 KCNK4 KCNK9 KCNMA1 KCNN2 KCNQ2 KCNQ3 KCNT1 KCTD17 KCTD7 KDM1A KIAA0319L KIAA0586 KIAA0753 KIF1A KIF1B KIF1C KIF5A KIF7 KLC2 KMT2B KNSTRN KPNA3 LAMA1 LEMD2 LEMD3 LGI3 LIAS LIG3 LIMK1 LMAN2L LMNB1 LMNB2 LNPK LRP12 LRPPRC LRRK2 LRSAM1 LSM11 LYST LZTR1 MACF1 MAG MAN1B1 MAOA MAPK10 MAPT MARCHF6 MARS1 MAX MDH2 MECP2 MECR MED11 MED17 MED23 MEGF10 MEN1 METTL27 MFN2 MICOS13 MICU1 MINPP1 MKS1 MLXIPL MMAA MMACHC MME MMUT MOCS1 MOCS2 MORC2 MPLKIP MPZ MRE11 MRM2 MRPL12 MRPS34 MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTOR MTPAP MTRFR MYBPC1 MYH14 MYL2 MYO5A MYORG NADK2 NAGA NARS1 NAXD NAXE NCF1 NDE1 NDNF NDP NDRG1 NDUFA1 NDUFA13 NDUFA4 NDUFA9 NDUFAF3 NDUFAF5 NDUFS2 NDUFS4 NDUFS8 NDUFV1 NECAP1 NEFH NEFL NEMF NEU1 NEUROD2 NEXMIF NF1 NF2 NFASC NFE2L2 NFU1 NGF NGLY1 NHLRC1 NHLRC2 NIPA1 NKX2-1 NKX6-2 NOL3 NONO NOP56 NOTCH2NLC NPHP1 NPTX1 NR1H4 NR4A2 NSD1 NTNG1 NTNG2 NTRK2 NUP214 NUP54 NUP62 NUS1 NUTM2B-AS1 OCA2 OCRL OFD1 OPA1 OPA3 OPHN1 OPTN OSTM1 OXR1 PACS2 PAH PANK2 PARK7 PARS2 PC PCBD1 PCDH19 PDCD1 PDE10A PDE2A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDK3 PDYN PET100 PEX10 PEX16 PEX2 PEX6 PFN1 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PHACTR1 PHGDH PHIP PI4KA PIBF1 PIGA PIGL PIGN PIGO PIGP PIGQ PIGT PIGV PIGW PIGY PIK3CA PIK3CD PIK3R5 PINK1 PITRM1 PITX3 PLA2G6 PLCB1 PLP1 PLPBP PMM2 PMP2 PMP22 PMPCA PNKD PNKP PNP PNPLA2 PNPLA6 PNPO PNPT1 PODXL POLG POLG2 POLR1C POLR3A POLR3B POLR3K POMGNT1 POMK POMT1 POMT2 POU3F3 POU3F4 POU4F1 PPP1R15B PPP2R2B PPP3CA PPT1 PRDM8 PRDX1 PRDX3 PRICKLE1 PRKAR1B PRKCG PRKN PRKRA PRNP PROK2 PROKR2 PRORP PRPH PRPS1 PRRT2 PRUNE1 PRX PSAP PSAT1 PSEN1 PSEN2 PSMC1 PTCD3 PTEN PTH PTPN22 PTS PUM1 PURA PUS7 PXK PYCR1 QDPR QRICH1 RAB18 RAB39B RAB3GAP2 RAB7A RAPGEF2 RARS1 RBM10 REEP1 REEP2 REPS1 RET RFC1 RFC2 RFT1 RHOBTB2 RILPL1 RLIM RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF216 RNU12 RNU7-1 RORA RORB RPGRIP1L RPL10 RRM2B RTN2 RUSC2 RYR1 SACS SAMD12 SAMD9L SAMHD1 SATB1 SBF2 SC5D SCARB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SCO2 SCP2 SCYL1 SCYL2 SDHA SDHAF2 SDHB SDHC SDHD SELENOI SEMA3A SEMA6B SEPSECS SERPINI1 SETD2 SETX SFXN4 SGCE SH2B1 SH3TC2 SHQ1 SIGMAR1 SIK1 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A10 SLC25A11 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A21 SLC25A22 SLC25A4 SLC25A42 SLC25A46 SLC2A1 SLC2A3 SLC30A10 SLC30A9 SLC32A1 SLC33A1 SLC38A3 SLC39A14 SLC39A4 SLC44A1 SLC46A1 SLC52A2 SLC52A3 SLC5A7 SLC6A1 SLC6A17 SLC6A3 SLC6A5 SLC6A8 SLC6A9 SLC7A6OS SLC9A1 SMARCB1 SMARCE1 SMC1A SMG9 SMN1 SMN2 SMO SMPD1 SMS SNCA SNCAIP SNORD118 SNRPN SNX10 SOD1 SORL1 SOX10 SPART SPAST SPEN SPG11 SPG21 SPOP SPP1 SPR SPRY4 SPTAN1 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SQSTM1 ST3GAL3 ST3GAL5 STAMBP STARD7 STAT4 STUB1 STX16 STX1A STX1B STXBP1 SUCLA2 SUCLG1 SUFU SUOX SYNE1 SYNGAP1 SYNJ1 SYT1 SYT2 SZT2 TACR3 TAF1 TANGO2 TARDBP TARS1 TAT TBC1D24 TBCD TBK1 TBL2 TBP TCEAL1 TCIRG1 TCTN1 TCTN2 TCTN3 TECR TENM4 TERT TFG TGM6 TH THAP1 THG1L THOC2 TIMM50 TIMM8A TIMMDC1 TK2 TLR7 TMCO1 TMEM106B TMEM127 TMEM151A TMEM216 TMEM218 TMEM222 TMEM231 TMEM237 TMEM240 TMEM270 TMEM63A TMEM67 TMEM70 TNFAIP3 TNFRSF1B TNFSF11 TNFSF4 TNIP1 TNNT1 TNPO2 TNR TNRC6A TOE1 TOGARAM1 TOMM40 TOPORS TOR1A TPI1 TPK1 TPP1 TPR TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TREM2 TREX1 TRIM8 TRIO TRMT5 TRPM3 TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHR TSPOAP1 TSPYL1 TTC19 TTPA TTR TUBB4A TWNK TXN2 TYROBP UBA1 UBA5 UBAP1 UBE2L3 UBE3A UBE3C UBQLN2 UBTF UCHL1 UFC1 UGDH UGT1A1 UQCRC1 UQCRQ UROC1 USP8 VAC14 VAMP1 VAMP2 VAPB VCP VHL VLDLR VPS13A VPS13C VPS13D VPS35 VPS37A VPS37D VPS41 VPS4A VPS53 VRK1 VWA1 VWA3B WARS2 WASHC5 WDR11 WDR45 WDR81 WFS1 WWOX XK XPA XPNPEP3 XPR1 YEATS2 YME1L1 YRDC YWHAG YY1 ZFR ZFYVE26 ZFYVE27 ZNF142 ZNHIT3 HP_IRIDOCYCLITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDOCYCLITIS AIRE ANKRD55 CD247 HLA-DRB1 IL2RA IL2RB NOD2 PTPN2 PTPN22 STAT4 STUB1 HP_IRIDODONESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDODONESIS ADAMTS17 CHRDL1 CPAMD8 FBN1 LTBP2 HP_IRIS_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_ATROPHY ASPH C1QTNF5 COQ2 LRP5 OVOL2 ROBO1 ZEB2 HP_IRIS_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_COLOBOMA AAAS ABCB6 ACTB ACTG1 ADNP AHI1 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BMP4 C12orf57 CBY1 CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 COL4A1 COX7B CPLANE1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DHCR7 DISP1 DLL1 DPYSL5 DYRK1A ELP4 ERF FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FKRP FKTN FLI1 FLNA FOXH1 GAS1 GDF3 GJA8 GLI2 GMPPA GNAQ GZF1 HCCS HMGB3 HMX1 HRAS HYLS1 IFT74 IGBP1 INPP5E KATNIP KCTD1 KIAA0586 KIAA0753 KIFBP KMT2D KRAS LARGE1 LETM1 LRP2 MAF MAFB MBTPS2 MED12L MIR204 MKS1 MMP14 MMP2 MPDZ NAA10 NDUFB11 NELFA NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 OFD1 PDE6D PIBF1 PIGG PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PRR12 PTCH1 PTCH2 PUF60 PXDN RB1 RBP4 RERE ROR1 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SEMA3E SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SPTBN1 SRD5A3 SUFU TBX22 TCEAL1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRAPPC11 TRIM37 VPS13B VPS35L VSX2 WASHC5 WNT3 YAP1 ZEB2 ZIC2 ZNF423 HP_IRIS_HYPOPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_HYPOPIGMENTATION ADGRV1 AP3B1 AP3D1 ARSG ATP10A BEST1 BLOC1S3 BLOC1S5 BLOC1S6 CASZ1 CDH23 CEP78 CIB2 CLRN1 DTNBP1 EPG5 ESPN GABRD GPR143 HARS1 HERC2 HPS1 HPS4 HPS5 HPS6 HSPG2 IMPG1 IMPG2 KANSL1 KCNAB2 LUZP1 LYST MAGEL2 MC1R MKRN3 MLPH MMP23B MT-TS2 MYO5A MYO7A NDN NPAP1 OCA2 PCDH15 PDPN PDZD7 PITX2 PRDM16 PRKCZ PRPH2 PWAR1 PWRN1 RAB27A RERE SKI SLC45A2 SNORD115-1 SNORD116-1 SNRPN SOX10 SPEN TYR TYRP1 UBE3A UBE4B USH1C USH1G USH2A WHRN XYLT2 HP_IRIS_TRANSILLUMINATION_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_TRANSILLUMINATION_DEFECT ADAMTSL4 BLOC1S3 BLOC1S5 C1QTNF5 CHRDL1 COL18A1 CPAMD8 DCT HPS5 LRMDA MC1R MITF OCA2 WDR45 HP_IRON_ACCUMULATION_IN_BRAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_ACCUMULATION_IN_BRAIN C19orf12 COASY CP CRAT DLAT FA2H FTL NUDT2 PANK2 PIGA PLA2G6 REPS1 TBCE VPS13A VPS41 WDR45 HP_IRON_DEFICIENCY_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_DEFICIENCY_ANEMIA ABCD3 ALAS2 ALG2 APC ATRX CASP10 CD55 CLCNKB CLPX COL2A1 COL7A1 DAXX DIAPH1 EIF2AK3 ELF4 FAS FASLG FGF23 FN1 FOXP3 GALNT2 HBB HLA-DQA1 HLA-DQB1 KCNE1 KCNQ1 MMP1 NAA10 PLA2G4A SLC12A3 STK11 WAS ZNF699 HP_IRREGULARLY_SHAPED_SPERM_TAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULARLY_SHAPED_SPERM_TAIL CCDC34 CFAP251 CFAP47 CFAP91 DNAH1 DNAH10 DNAH8 DNHD1 FSIP2 IFT74 SSX1 TTC21A WDR19 HP_IRREGULAR_ACETABULAR_ROOF https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ACETABULAR_ROOF ARSK CCN6 COL10A1 COL2A1 COMP TRPV4 UFSP2 HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS ADAMTSL2 COL9A1 PEX5 RNU4ATAC TRPV4 UFSP2 HP_IRREGULAR_DENTITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_DENTITION DCHS1 FAT4 NFIX NMNAT1 RIN2 SOX9 TMEM231 HP_IRREGULAR_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_EPIPHYSES ACAN ADAMTSL2 BPNT2 CDC6 CHST3 COL11A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP DYM KIF22 MATN3 NANS NMNAT1 PEX5 RNU4ATAC RPL13 SIK3 SLC26A2 TRAPPC2 TRIP11 TRPV4 UFSP2 HP_IRREGULAR_FEMORAL_EPIPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_FEMORAL_EPIPHYSIS ADAMTSL2 CDC6 COL11A1 COL2A1 COL9A1 PEX5 RNU4ATAC RPL13 TRPV4 UFSP2 HP_IRREGULAR_HYPERPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_HYPERPIGMENTATION ABCB6 ABCC9 ABCD1 ACP5 ACTB AKT1 ANAPC1 ANKLE2 APC ARL6IP6 ATM ATP2A2 BANF1 BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C1R C1S CARD14 CASR CBL CD28 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEP57 CHN1 CIB1 CLCN7 CLTRN COL17A1 COL25A1 COL3A1 COL7A1 COPB1 CREBBP CRIPT CTC1 CTLA4 CWC27 CYBA CYBB CYBC1 DDB2 DDX11 DHX30 DKC1 DNASE1L3 DSTYK EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FERMT1 FGFR1 FGFR3 GJA1 GJB3 GJB4 GNA11 GNAQ GNAS GNB2 GPNMB H4C5 HEPACAM HGD HMGA2 HRAS IFNG IGF1 IGF2 IKBKG IL6 IL7 INSR KANSL1 KDM5C KDM6A KDM6B KDSR KIT KITLG KLLN KMT2D KRAS KRT14 KRT5 LBR LMNA LYST LZTR1 MAD2L2 MAFB MAN1B1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MAX MED12 MEN1 MLH1 MMP2 MSH2 MSH6 MTOR NBN NCF1 NCF2 NCF4 NDUFB11 NF1 NF2 NHP2 NOP10 NOTCH3 NPM1 NRAS PALB2 PARN PCNT PDE11A PDGFRA PDGFRB PHIP PIK3CA PLAG1 PLEC PLXND1 PMS2 POFUT1 POGLUT1 POLA1 POLE PORCN PPP1CB PRKAR1A PSENEN PTEN PTPN11 RAD51 RAD51C RAF1 RBBP8 RERE RET REV3L RFWD3 RFX7 RPA1 RTEL1 SALL4 SASH1 SDHA SDHB SDHC SDHD SEC23A SEC23B SET SETBP1 SH3PXD2B SHOC2 SKIC2 SKIC3 SLC6A19 SLC9A1 SLF2 SLX4 SMARCA2 SMARCAD1 SMARCAL1 SOX10 SPINK5 SPRED1 SRD5A3 ST3GAL5 STEAP3 STK11 SVBP TERC TERT TINF2 TMC6 TMC8 TMEM127 TNFRSF1A TNFRSF1B TOP3A TP53 TP53RK TP63 TRIP13 TSC1 TSC2 TUBB TWIST2 TYMS UBE2T UBR1 USB1 USF3 VHL WASF1 WBP11 WRAP53 XPA XPC XRCC2 ZFHX4 ZMPSTE24 HP_IRREGULAR_ILIAC_CREST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ILIAC_CREST COL2A1 DYM GPX4 IDH1 LMX1B PAM16 HP_IRREGULAR_MENSTRUATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_MENSTRUATION AIP ALMS1 ANTXR1 ARMC5 BBS9 C14orf39 CDH23 CDKN1C CIDEC CYB5A CYP11B1 CYP17A1 ERAL1 ERCC8 FANCM FGFR3 FMR1 FOXL2 GNAS GPR101 HMGA2 HSF2BP IGF2 LMNA MEN1 NR3C1 PDE4D PHKA2 PHKB PHKG2 PLAG1 PPARG PRKAR1A PSMB8 SETD2 SLC37A4 SOST HP_IRREGULAR_VERTEBRAL_ENDPLATES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_VERTEBRAL_ENDPLATES ACP5 B3GALT6 CCN6 CHST3 COG4 COL10A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP EIF2AK3 EXOC6B GNPAT GORAB IDH1 KIF22 MMP13 NANS PAPSS2 PDE4D POLR3A RNU4ATAC SLC10A7 SLC29A3 SLC39A13 TCIRG1 TNFRSF11A TRAPPC2 ZBTB20 HP_IRRITABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRRITABILITY ABCC6 ABCC8 ACOX1 ACTN4 ADAR ADNP AIFM1 ALDH7A1 ALG9 ALPL AMPD2 AMT ANKFY1 ANLN APOL1 AQP2 ARG1 ARHGAP24 ARHGDIA ARV1 ASAH1 ASH1L ASL ASNS ASPA ASS1 ATP5F1A AVP AVPR2 BMPR1A C4A CACNA1A CAMK2A CAMK2B CARS1 CCR1 CD2AP CDKN2A CDON CHMP2B CLN8 CLP1 CNP COG4 COL4A3 COQ8B CPS1 CRB2 CTNNB1 CYP27B1 CYP2R1 DAAM2 DARS1 DCX DDC DISP1 DLL1 DNM1 DNMT1 DPYD EHMT1 EMP2 ENPP1 EPCAM ERAP1 EXOC8 EXOSC8 FAN1 FAS FBP1 FBP2 FDFT1 FGF8 FGFR1 FIG4 FMR1 FOCAD FOXG1 FOXH1 FOXRED1 GALC GAPVD1 GAS1 GCH1 GLDC GLI2 GLRX5 GNAS GRIA4 GRN GYS2 HBB HIBCH HIKESHI HLA-B HLA-DQB1 HLCS HSPG2 HTRA1 HTT IBA57 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R INF2 ITPA JPH3 KLRC4 KRAS LSM11 MAGI2 MAPT MECP2 MED12 MED23 MEFV MLH1 MLH3 MOCS2 MSH2 MSH6 MT-ATP6 MTHFS MYO1E NAA10 NAA20 NACC1 NAXD NAXE NDP NDUFA2 NDUFA6 NDUFAF4 NDUFS1 NFIX NHLRC2 NODAL NPHS1 NPHS2 NRCAM NSDHL NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSTM1 OTC PAH PANK2 PAX2 PCBD1 PERCC1 PHGDH PIK3CA PLCE1 PLCH1 PLPBP PMS1 PMS2 POGZ PPT1 PRF1 PRKAR1A PRNP PRRT2 PSAP PSEN1 PTCH1 PTH PTPRO PTS PYCR2 PYGL QDPR RNASEH2A RNASEH2B RNASEH2C RNF13 RNU7-1 RPS20 SAMHD1 SDHA SDHAF1 SDHB SDHD SEMA4A SEPSECS SHH SIX3 SLC16A2 SLC19A3 SLC1A2 SLC1A4 SLC25A1 SLC25A13 SLC25A19 SLC25A20 SLC2A1 SLC2A3 SLC39A14 SLC39A4 SLC46A1 SLC6A3 SMARCB1 SMC1A SMPD1 SPTBN1 SQSTM1 ST3GAL3 ST3GAL5 STAG2 STAT4 STIL STUB1 STX16 SUCLA2 TBC1D8B TCN2 TDGF1 TERT TGFBR2 TGIF1 TH TK2 TLR4 TMEM106B TMEM237 TP53 TRANK1 TREM2 TREX1 TRMT5 TRMU TRPC6 TSEN15 TSPOAP1 TTI2 TYROBP UBA5 UBAC2 UFC1 VCP VDR VPS13A VPS50 VPS53 WT1 YIF1B ZIC2 ZNRF3 HP_ISOMERISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ISOMERISM CFC1 CIROP DNAH9 FANCB GDF1 NODAL SMAD2 ZIC3 HP_IVORY_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES ATR EIF2AK3 ERCC6 ERCC8 PCNT PCYT1A SRCAP TONSL TRPS1 HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND EIF2AK3 ERCC6 ERCC8 SRCAP TONSL TRPS1 HP_JAUNDICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JAUNDICE ABCB11 ABCB4 ABCC2 ABCD3 ACADVL ADAMTS13 ADAR AKR1D1 ALDOA ALDOB ALG6 AMACR ANK1 APC2 ARL13B ATP11C ATP6AP1 ATP6AP2 ATP7A ATP7B ATP8B1 BAAT BRCA1 BRCA2 CA5A CALR CASK CASR CCDC115 CDAN1 CDIN1 CDKN2A CFTR CLDN1 COG7 COX4I2 CPA1 CPOX CTCF CTRC CYP27A1 CYP7B1 DCDC2 DEF6 DGUOK DHFR DPAGT1 DUOX2 DUOXA2 DZIP1L EIF2AK3 EPB41 EPB42 ETFA ETFB ETFDH F5 FCGR3B FLI1 FOCAD G6PD GALE GALK1 GALM GALT GCLC GH1 GLRX5 GPI GPR35 GYPC HBB HBG2 HESX1 HK1 HMGCL HNF1B HSD3B7 HTRA2 HYOU1 IARS1 IER3IP1 IFIH1 IL12A IL12RB1 IL18BP IL2RG IRF5 IYD JAG1 JAK2 KCNN4 KIF12 KIF23 KMT2D KMT2E KRAS KRT18 KYNU LBR LHX3 LHX4 LIPA LPL LSM11 LYST MED12 MMACHC MMEL1 MPV17 MST1 MYO5B NAA10 NBAS NKX2-5 NPC1 NPC2 NR1H4 NSD1 OCLN PALB2 PALLD PARS2 PAX8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PFKM PIEZO1 PIGA PKD2 PKHD1 PKLR POLG POLG2 POU1F1 POU2AF1 PRF1 PRKAR1A PROP1 PRPS1 PRSS1 PRSS2 PTPN3 RAB27A RABL3 RHAG RHCE RHD RINT1 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 SAMHD1 SEC23B SEMA4D SERPINA1 SETD2 SKIC3 SLC10A1 SLC16A2 SLC25A13 SLC26A4 SLC2A1 SLC30A10 SLC37A4 SLC44A1 SLC4A1 SLC51B SLC5A5 SLCO1B1 SLCO1B3 SMAD4 SMPD1 SP110 SPIB SPINK1 SPOP SPTA1 SPTB SPTBN1 STX11 STXBP2 TBX19 TCF4 TFAM TG TNFSF15 TNPO3 TP53 TPI1 TPO TREX1 TRHR TRMU TSHB TSHR TTC26 TULP3 UGT1A1 UNC13D UNC45A UROS USP53 VIPAS39 VPS33B YARS1 ZFYVE19 HP_JAW_HYPERREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JAW_HYPERREFLEXIA AP4M1 GCH1 NRCAM SPG21 SPTLC1 HP_JERKY_HEAD_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_HEAD_MOVEMENTS CACNA1H DLAT GABRA1 GABRB3 GABRG2 JRK MAPT PIGT PRNP SLC2A1 VAMP1 HP_JERKY_OCULAR_PURSUIT_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS AARS1 GBA2 GDAP2 KCNC3 PLD3 PRNP SPTBN2 SYNE1 TTBK2 HP_JOINT_CONTRACTURE_OF_THE_3RD_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_3RD_FINGER COL1A1 MED25 NEDD4L PLOD3 SLC26A2 SMC1A TBX2 HP_JOINT_CONTRACTURE_OF_THE_4TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_4TH_FINGER ASXL3 FBXW11 KDM5B SIN3A TBX2 TLK2 HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER ARPC4 AUTS2 CTCF FBXW11 GJA1 HOXD13 JARID2 KDM5B KMT2B LIFR PIGL PITX1 PYROXD1 SLC29A3 TMEM218 ZDHHC9 HP_JOINT_CONTRACTURE_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_HAND ACTA1 ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ADGRG6 ALG3 ALX1 ALX3 AMER1 ANO5 ANTXR2 APC2 ARID1B ARPC4 ASXL3 AUTS2 BCOR BCR CANT1 CAPN3 CASZ1 CAV1 CCBE1 CCDC22 CCN2 CCN6 CCR6 CDC45 CDC6 CDH3 CDT1 CHRNG CHST3 CLCF1 CNTN1 COG5 COL11A1 COL11A2 COL12A1 COL1A1 COL2A1 COL6A1 COL6A2 COL6A3 CRKL CRLF1 CSGALNACT1 CTCF CTDP1 CUL4B DDR2 DHCR24 DHODH DLK1 DLL3 DOK7 DVL1 DVL3 DYRK1A ECE1 EED EFNB1 EMG1 ERCC1 ERCC2 ERCC5 ERCC6 EZH2 FAT4 FBN1 FBN2 FBXO28 FBXW11 FERMT1 FGD1 FGFR1 FGFR3 FHL1 FKTN FLNA FLVCR1 FZD2 GABRD GDAP1 GDF5 GJA1 GLDN GLI3 GMNN GON7 GPC3 GPC4 GPKOW H4C9 HACD1 HES7 HINT1 HK1 HLA-DRB1 HNRNPA1 HOXD13 HSPB1 HSPG2 IDS IDUA IGHMBP2 IKBKG IL6ST INF2 IPO8 IRF5 ITGA7 JARID2 KAT6B KCNAB2 KCNK9 KDM5B KDM5C KIAA0319L KIF21A KIF5A KMT2A KMT2B KRT1 KRT14 KRT16 KRT9 L1CAM LAGE3 LAMB3 LARGE1 LFNG LIFR LMBR1 LMNA LMX1B LUZP1 MAFB MAP3K20 MAP3K7 MAPK1 MBTPS2 MED12 MED25 MEG3 MEGF10 MESP2 MKS1 MMP2 MMP23B MORC2 MUSK MYBPC1 MYH3 MYL11 MYL2 MYOD1 NAA10 NALCN NDRG1 NEDD4L NEFL NLRP3 NOD2 NOG NSD1 NUP107 NUP133 NUP88 NXN OCRL ORC1 ORC4 ORC6 OSGEP PAX3 PDGFRB PDPN PDXK PEX1 PEX5 PEX6 PHGDH PIEZO2 PIGL PITX1 PLEKHG5 PLOD3 PMP22 POLR3A POLR3GL POR PORCN PQBP1 PRDM16 PRG4 PRKCZ PSMB8 PTRH2 PYROXD1 RAB23 RAB3GAP1 RAPSN RERE RIPPLY2 ROR2 RPL10 RTL1 RTTN SCARF2 SCN4A SELENON SETD2 SH3PXD2B SHH SIGMAR1 SIN3A SKI SLC18A3 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SMAD3 SMARCAD1 SMC1A SMG9 SMOC1 SOX9 SPEN SUZ12 SVIL SYNE1 TBC1D2B TBR1 TBX15 TBX2 TBX3 TCTN3 TDO2 TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMEM218 TMEM70 TNNI2 TNNT3 TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPRKB TRPS1 TRPV4 TUBA1A TUBB3 TWIST2 UBA1 UBE4B UPF3B UROS WDR4 WDR73 WNT5A XYLT1 YRDC ZDHHC9 ZMPSTE24 ZNF407 HP_JOINT_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_DISLOCATION AARS1 ABCC9 ACTA1 ADAMTS2 ADAMTSL2 AEBP1 AFF3 AGRN AKT1 ALDH18A1 ALG9 ANKH APC ARF1 ARFGEF2 ARID1B ARNT2 ARVCF ASXL1 ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BGN BICD2 BMP1 BPNT2 BRCA1 BRCA2 BRD4 BRIP1 BUD23 C12orf57 C1R C1S CANT1 CARS1 CCDC47 CCDC8 CD96 CDC45 CDC6 CDON CDT1 CEP85L CFL2 CHAT CHRM3 CHRNA1 CHRND CHRNG CHST11 CHST14 CHST3 CLCN3 CLCN7 CLIP2 CLTCL1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COMT COX8A CPLX1 CREBBP CSGALNACT1 CTBP1 CUL7 DHCR7 DHODH DISP1 DLL1 DNAJC21 DNAJC30 DNASE1L3 DONSON DPYSL5 DSE DSTYK DVL1 DVL3 EBP ECEL1 EFEMP2 EIF2AK3 EIF4A3 EIF4H ELN EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERGIC1 ERMARD EXOC6B EXOSC3 EXT1 EXTL3 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN1 FBLN5 FBN1 FBN2 FBXL3 FGF8 FGFR1 FGFRL1 FHL1 FIG4 FKBP6 FKRP FLI1 FLNA FLNB FOXH1 FUT8 FZD2 GAS1 GCDH GDF5 GEMIN4 GJA1 GLI2 GLI3 GLRA1 GLRB GMNN GMPPB GNB2 GNPTAB GORAB GP1BB GPC3 GPC4 GPC6 GPHN GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GZF1 HACD1 HACE1 HDAC4 HDAC8 HGD HIRA HK1 HNRNPH1 HOXA11 HPRT1 HSPG2 IARS2 IFIH1 IFITM5 IL6ST INPP5K IPO8 ITGA7 JMJD1C KANSL1 KAT6B KDM6A KIF22 KLHL41 KMT2D L1CAM LARGE1 LBR LETM1 LIMK1 LMNA LMOD3 LMX1B LONP1 LRP4 LTBP1 LYSET MAB21L2 MACF1 MACROH2A1 MAD2L2 MAFB MAP1B MAP3K20 MAP3K7 MASP1 MBTPS2 MCTP2 METTL27 MKKS MLXIPL MPLKIP MYH3 MYH8 MYL2 MYO9A NAA10 NAE1 NCF1 NEB NEDD4L NFIX NGLY1 NIPBL NKX3-2 NLRP3 NODAL NOG NOTCH2 NSD2 NSDHL NXN OBSL1 OCRL ORC1 ORC4 ORC6 OSGEP PAFAH1B1 PALB2 PIEZO2 PIGL PITX1 PKDCC PLCH1 PLOD1 POLR3B POMT1 POMT2 PORCN PPP2R5D PRKACB PRKAR1A PTCH1 PTEN PTRH2 PUF60 PYCR1 PYCR2 RAD21 RAD51 RAD51C RBM8A RECQL4 RFC2 RFWD3 RNF113A RNU4ATAC ROR2 RREB1 RUNX2 RYR1 RYR3 SALL4 SCARF2 SCYL2 SEC24C SEC31A SELENON SF3B4 SHH SHOX SHROOM4 SIL1 SIX1 SIX3 SKI SLC10A7 SLC12A2 SLC18A3 SLC25A1 SLC26A2 SLC2A10 SLC35A3 SLC35B2 SLC39A13 SLC5A7 SLC6A5 SLC6A9 SLX4 SMARCA2 SMC1A SMC3 SMO SMOC1 SNAP25 SNRPB SOX9 SPARC SRCAP SSR4 STAG2 STIL STX1A STXBP1 SYNE1 SYT2 TARS1 TBCD TBL2 TBX1 TBX15 TBX4 TCTN3 TDGF1 TELO2 TFE3 TGDS TGFBR1 TGFBR2 TGIF1 THRA TMEM270 TMTC3 TNFRSF11B TNNT3 TONSL TOR1A TPM2 TPM3 TRIM8 TRPS1 TTC26 UBA2 UBE2A UBE2T UBE3B UFD1 USP9X VAC14 VAMP1 VDR VPS37D WNT5A WNT7A XRCC2 XYLT1 YWHAE YY1 ZC4H2 ZIC2 ZIC3 ZMPSTE24 ZNF469 HP_JOINT_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HEMORRHAGE F10 F11 F13A1 F13B F2 F5 F7 F8 F9 GGCX LMAN1 MCFD2 PLAU SERPINE1 SERPINF2 VWF WAS HP_JOINT_HYPERFLEXIBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERFLEXIBILITY ABCC6 ADAMTS2 ADAMTSL2 ALDH18A1 ANTXR1 ARVCF ATP7A ATR ATRIP B4GALT7 BAZ1B BCL7B BCR BUD23 C1R C1S CANT1 CBL CCDC8 CDC45 CDC6 CDT1 CENPE CENPJ CEP152 CLIP2 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMT CRKL CRTAP CSGALNACT1 CTNND2 CUL4B CUL7 DNA2 DNAJC30 EED EFNB1 EIF4H ELN ENPP1 EXT1 EZH2 FBN1 FGD1 FGFR3 FKBP6 FLNA FLNB GDF5 GMNN GORAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HIRA HNF1B HOXD13 HRAS IFT122 IFT43 IFT52 IL6ST IPO8 JMJD1C KAT6B KDM6A KMT2D KRAS LBR LIG4 LIMK1 LMNA LONP1 LZTR1 MAPK1 MED12 METTL27 MLXIPL MRAS NCF1 NFIX NOTCH2 NOTCH3 NPR2 NRAS NSD1 NSUN2 NUP85 OBSL1 OCRL ORC1 ORC4 ORC6 P4HB PAK2 PAX2 PCNT PHF6 PIK3CA PIK3R1 PLK4 PLOD1 PRDM5 PTCH1 PTDSS1 PTEN PTHLH PTPN11 PYCR1 RAD21 RAF1 RASA2 RBBP8 RFC2 RIT1 RMRP RPS6KA3 RRAS RRAS2 RREB1 RYR1 SATB2 SEC23A SEC24C SEC24D SEMA5A SKI SLC26A2 SLC2A10 SLC6A8 SLC9A6 SMOC1 SOS1 SOS2 SPRED2 STAT3 STX1A SUZ12 TAB2 TBL2 TBX1 TGDS TGFB2 TGFBR1 TGFBR2 TMEM270 TNXB TRAIP TRIP11 TRPS1 UBE3A UFD1 UPF3B USP9X VPS13B VPS37A VPS37D WASF1 WDR19 WDR35 XYLT1 XYLT2 ZDHHC9 ZNF469 HP_JOINT_HYPERMOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERMOBILITY ABCC6 ABL1 ADAMTS2 ADAMTSL2 ADGRL1 AEBP1 ALDH18A1 AMMECR1 ANKRD17 ANKRD55 ANTXR1 ARF1 ARFGEF2 ARVCF ASAH1 ATN1 ATP6AP1 ATP6V0A2 ATP6V1B2 ATP7A ATP7B ATR ATRIP B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL11A BCL7B BCR BGN BMP1 BRAF BRPF1 BUD23 C1R C1S CAMK2A CAMTA1 CANT1 CBL CCDC8 CD247 CDC42BPB CDC45 CDC6 CDK13 CDT1 CENPE CENPJ CEP152 CHAMP1 CHST3 CLIP2 COL11A1 COL12A1 COL18A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLEC11 COMP COMT CREB3L1 CREBBP CRKL CRTAP CSGALNACT1 CSNK2A1 CTNND2 CUL4B CUL7 DBH DHX30 DLK1 DNA2 DNAJC21 DNAJC30 DNMT3A DPYD DPYSL5 ECEL1 EED EFEMP2 EFNB1 EIF4H EIF5A ELN EMILIN1 ENPP1 EP300 ERMARD EXT1 EZH2 FARSA FBLN5 FBN1 FGD1 FGFR3 FKBP14 FKBP6 FLNA FLNB GAN GDF11 GDF5 GJA5 GJA8 GMNN GNB1 GNB2 GNE GORAB GP1BB GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GZF1 H4C5 H4C9 HDAC4 HEPHL1 HIRA HNF1B HOXD13 HRAS HYAL1 IARS2 IFITM5 IFT122 IFT43 IFT52 IL1RAPL1 IL2RA IL2RB IL6ST IPO8 JMJD1C KANSL1 KAT6B KCNH1 KCNMA1 KCNN3 KDELR2 KDM1A KDM3B KDM6A KDM6B KMT2A KMT2D KRAS LBR LIG4 LIMK1 LMNA LMNB2 LMX1B LONP1 LOX LRP5 LZTR1 MAMLD1 MAN1B1 MAP1B MAP3K7 MAPK1 MBTPS2 MED12 MEFV MEG3 METTL27 MLXIPL MRAS MTM1 NAE1 NCF1 NEDD4L NEPRO NF1 NFASC NFIX NGLY1 NLRP1 NOTCH2 NOTCH3 NPR2 NRAS NSD1 NSDHL NSUN2 NUP85 OBSL1 OCRL ORC1 ORC4 ORC6 OTUD6B P4HB P4HTM PAK2 PAX2 PCGF2 PCNT PGM2L1 PGM3 PHF6 PHIP PIGG PIGP PIGT PIGU PIK3CA PIK3R1 PKDCC PLAA PLK4 PLOD1 POLR3A PPP1CB PPP2R1A PRDM5 PROKR2 PRR12 PTCH1 PTDSS1 PTEN PTHLH PTPN11 PTPN2 PTPN22 PUF60 PYCR1 PYCR2 PYROXD1 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RASA2 RBBP8 RFC2 RIN2 RIT1 RMRP RNF13 RPS6KA3 RRAS RRAS2 RREB1 RSPRY1 RTL1 RYR1 SATB1 SATB2 SCUBE3 SEC23A SEC24C SEC24D SEMA5A SET SETD1A SHANK3 SIN3A SIN3B SKI SLC10A7 SLC26A2 SLC2A10 SLC35A2 SLC39A8 SLC6A8 SLC9A6 SMOC1 SMS SON SOS1 SOS2 SP7 SPART SPRED2 SRCAP STAT3 STAT4 STX1A SUZ12 TAB2 TAF1 TANC2 TAOK1 TBL2 TBX1 TCF12 TENT5A TET3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TLK2 TMCO1 TMEM270 TMTC3 TNFRSF1A TNNC2 TNRC6B TNXB TOGARAM1 TRAIP TRIP11 TRPS1 TTC26 UBE3A UFD1 UPF3B USP9X VAMP1 VPS13B VPS37A VPS37D WASF1 WDR19 WDR35 WNT1 XYLT1 XYLT2 YARS1 YY1 ZBTB20 ZDHHC9 ZMIZ1 ZMYM2 ZNF341 ZNF469 HP_JOINT_LAXITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_LAXITY ACAN ADAMTS2 ADNP AEBP1 AGA AGRN AHDC1 ALDH18A1 ALG14 ALG2 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARCN1 ARID1A ARID1B ARID2 ASPH ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B3GALT6 B3GLCT B4GALT7 BAZ1B BCL7B BGN BICRA BUD23 C12orf4 C1R CANT1 CBL CCDC47 CCNQ CDC45 CEP104 CHAT CHD3 CHD7 CHST14 CLIP2 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COMP CREBBP CSGALNACT1 CTSK CUL4B DCHS1 DCPS DDB1 DDRGK1 DDX3X DEAF1 DLG4 DLK1 DNAJC30 DPAGT1 DPF2 DSE DUSP6 EED EFEMP2 EFNB1 EIF4H ELN EN1 EP300 ERMARD EXOC6B FARSB FAT4 FBLN5 FBXL3 FGD1 FGF17 FGF8 FGFR1 FGFR3 FKBP10 FKBP6 FLNA FLNB FMR1 FOCAD GALNS GATA1 GATAD2B GFPT1 GJA5 GJA8 GLB1 GMPPB GNB2 GNRH1 GNRHR GPC4 GRIA3 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HERC1 HNRNPH1 HNRNPH2 HNRNPK HS6ST1 HYMAI IARS1 IFT122 IFT43 IPO8 JARID2 KANSL1 KCNJ2 KCNJ5 KDM6A KIF22 KISS1 KISS1R KMT2A LIMK1 LONP1 LOX LRP5 LTBP1 LTBP4 MAN1B1 MAN2B1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MARS1 MCTP2 MED12 MEG3 METTL27 MICU1 MKS1 MLXIPL MRE11 MSTO1 MYO9A NANS NCF1 NHLH2 NKAP NONO NOTCH2 NPR2 NPR3 NSD1 NSMF ORC1 OTX2 P3H1 PAX2 PDE4D PEX2 PHIP PIGG PIGP PIGS PIK3CA PIK3R1 PLAGL1 PLOD1 PMM2 POGZ POLR3GL PORCN PPP1R15B PROK2 PROKR2 PTDSS1 PTEN PUF60 PUS1 PYROXD1 RAB3GAP2 RAC1 RAI1 RECQL RET RFC2 RFX7 RIN2 RMRP RNF125 ROR2 RTL1 RUSC2 RYR1 SATB2 SEC23A SERPINF1 SERPINH1 SETD2 SHOC2 SIN3A SKI SLC18A3 SLC25A1 SLC2A10 SLC35B2 SLC39A13 SLC5A7 SLC6A9 SMAD3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNAP25 SOBP SOX11 SOX4 SOX9 SPARC SPRY4 SPTBN1 SRCAP STAC3 STAG1 STRADA STX1A SYT1 SYT2 TAC3 TACR3 TBL1XR1 TBL2 TBR1 TCTN3 TDO2 TELO2 TENT5A TGDS TGFB2 TGFBR1 TGFBR2 THOC2 TMEM165 TMEM270 TONSL TRIM8 TRIP4 TRMT10A TUBB3 UBR1 USB1 USP9X VAMP1 VPS37D WDR11 WDR35 XYLT1 YWHAG ZNF469 HP_JOINT_STIFFNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_STIFFNESS ACTB ACTG1 ACTG2 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTSL2 ADAMTSL4 AGA AKT1 ALDH3A2 ANKRD55 ANTXR2 ARSB ASPA ASPN ATAD1 ATRX BANF1 BAZ1B BCL7B BMP6 BMPR1B BRD4 BUD23 CASZ1 CBS CCN6 CD244 CD247 CHMP1A CHST11 CIITA CISD2 CLIP2 COL1A1 COL1A2 COL2A1 COMP DEAF1 DKK1 DNAJC30 EED EIF4H ELN EMD EMG1 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 EZH2 FBN1 FBN2 FGF9 FGFR3 FHL1 FKBP10 FKBP6 FLII FLNA FUZ GABRD GDF5 GLB1 GLRA1 GLRB GNPTG GNS GPHN GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB HDAC8 HFE HGD HGSNAT HLA-B HLA-DRB1 HPGD HSPG2 IDH1 IDH2 IDUA IL10 IL2RA IL2RB INPPL1 IQSEC2 IRF6 KCNAB2 KRT83 L1CAM LEMD3 LIMK1 LMNA LSS LTBP2 LTBP3 LUZP1 MACROH2A1 MAN2B1 MATN3 MECP2 METTL27 MFN2 MLXIPL MMP13 MMP23B MMP9 MTX2 MYBPC1 MYH3 NAE1 NAGLU NALCN NCF1 NDE1 NDUFS3 NEK9 NFKBIL1 NIPBL NOG NPR2 NSD1 OCRL P4HA2 PAX3 PCYT1A PDPN PIEZO2 PITX1 PLA2G6 PLOD2 PNKD POMT1 PPP1R12A PRDM16 PRG4 PRKCZ PRRT2 PTEN PTF1A PTH1R PTPN2 PTPN22 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RECQL4 RERE RFC2 RNU4ATAC SALL4 SCUBE3 SETBP1 SF3B4 SGSH SH3PXD2B SHOX SKI SLC22A4 SLC26A2 SLC6A5 SMAD4 SMC1A SMC3 SPEN STAT4 STING1 STX1A SUMF1 SUZ12 SYNE1 SYNE2 TBC1D20 TBL2 TBX3 TBX5 TGDS TMEM270 TMEM43 TNNI2 TNNT3 TPM2 TRAPPC2 TRPV4 UBE4B USB1 VANGL1 VAPB VPS33A VPS37D WFS1 WRN ZMPSTE24 HP_JOINT_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SUBLUXATION ADAMTS2 ARSL B3GALT6 BPNT2 CHD7 COL1A1 COL1A2 COL2A1 COL5A1 DCHS1 DDR2 EFEMP2 FBLN5 FLNB GALNS GLB1 GLI3 HNRNPH1 IDUA IFIH1 KIF22 LTBP1 MADD MMP2 PLOD1 PUF60 RIGI RMRP TNXB XYLT1 HP_JOINT_SWELLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SWELLING ACP5 AIP ANKH ANKRD55 ASAH1 ATP7B BMP6 BTNL2 CCN6 CD244 CD247 CHEK2 CIITA COL1A1 COL5A1 COL5A2 DDR2 F8 FGA FGB FGG GNB2 GPR101 HFE HGD HLA-B HLA-DRB1 HPGD IL10 IL1RN IL2RA IL2RB IL6 LACC1 LPIN2 MEFV MIF NFKBIL1 NOD2 OCRL OTULIN PTPN2 PTPN22 RB1 SLC22A4 SLCO2A1 STAT4 SYK TNFRSF11B TNFRSF1A TP53 TRAPPC2 HP_JUNCTIONAL_ECTOPIC_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUNCTIONAL_ECTOPIC_TACHYCARDIA CITED2 COX7B HCCS MT-CYB NDUFB11 HP_JUVENILE_ASEPTIC_NECROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ASEPTIC_NECROSIS ACAN ACTB ACTG1 ADAMTS2 ADAMTSL2 ATP7A COL1A1 COL1A2 COL2A1 COL9A2 COMP CREBBP DVL1 DVL3 DYRK1A EP300 EXT1 FGFR1 FN1 FZD2 INPP5K KRAS LMX1B MATN3 MMP13 NEK9 ORC1 PHF6 RAB3GAP2 RAD21 SIL1 SKIC3 SLC2A10 SMAD3 SRCAP TINF2 TONSL TREX1 TRPS1 TRPV4 UFSP2 UNC45A WNT5A HP_JUVENILE_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_CATARACT ADNP ANAPC1 CYP27A1 FAR1 LEMD2 MECP2 NACC1 RDH11 RECQL4 SPTBN1 TGM3 HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA ARHGAP26 BRAF CBL KRAS MAP2K1 NF1 NRAS PTPN11 HP_JUVENILE_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ONSET AAAS AARS1 AARS2 ABCA4 ABCB7 ABHD12 ACO2 ACP5 ACTC1 ACTN2 ADA2 ADAM10 ADCY5 ADNP ADSS1 AFG3L2 AGBL5 AKAP9 ALDH18A1 ALDH5A1 ALG6 ALPK1 ANK1 ANKS6 ANLN ANO10 ANO3 ANO5 AOPEP APRT APTX ARHGEF1 ARL3 ASAH1 ASS1 ATL1 ATL3 ATN1 ATP11A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B2 ATP2B3 ATP6AP2 ATP6V0A1 ATP7A ATP7B ATP8B1 AXL B2M BAAT BAG3 BAG5 BFSP1 BICD2 BIN1 BMP15 BSCL2 BTK BVES C19orf12 C1QBP C1QC C3 CACNA1A CACNA1C CACNA1H CACNB4 CALM1 CALM2 CAPN3 CARD10 CARD9 CARS2 CASK CASP10 CASQ2 CASR CAV1 CAV3 CBFB CBLIF CCDC141 CCDC39 CD19 CD4 CD46 CD55 CDH2 CEACAM16 CEBPE CFAP410 CFH CFI CHM CHP1 CHRNA1 CHRNA2 CHST6 CHST8 CIB1 CIC CIDEC CILK1 CLCN1 CLCN2 CLCN7 CLCNKB CLDN16 CLDN19 CLN3 CLN5 CLN8 CNNM2 CNTN2 COL17A1 COL2A1 COL4A3 COL6A3 COL7A1 COL9A1 COLQ COQ6 COQ8B COX20 CPA6 CRB2 CRYGS CSF1R CSTB CTNNA1 CTNNA3 CTNNB1 CTNS CYBA CYBB CYP11B1 CYP2U1 CYP7B1 DAAM2 DAB1 DBR1 DCLRE1B DDB1 DDHD1 DEF6 DGKE DHDDS DHFR DHTKD1 DIABLO DIAPH1 DIAPH3 DKC1 DMD DNAH9 DNAJC3 DNAJC30 DNAJC6 DNASE1L3 DNM1L DNM2 DOK7 DPM3 DPYD DSC2 DSG2 DSP DUSP6 DUT DYSF DZIP1L EFHC1 EGR2 EIF2AK2 EIF2AK4 EIF2B1 EIF2B4 ELF4 EMD ENPP1 EPRS1 ERCC4 ERCC6L2 ESR1 EXT1 EXT2 FA2H FANCM FBN1 FDPS FDX2 FDXR FEZF1 FGF17 FGFR3 FHL1 FIG4 FKTN FLNC FLRT3 FN1 FOCAD FOXC1 FOXD3 FSHR FTL FXN G6PD GABRA3 GAL GALNS GALNT3 GAN GANAB GBA2 GCDH GCK GFAP GFPT1 GIMAP5 GJC2 GK GLA GLB1 GNAL GNAS GNB4 GNPTAB GNRH1 GNRHR GPNMB GTPBP3 H6PD HADHB HAVCR2 HCN4 HGSNAT HINT1 HK1 HPCA HPDL HPRT1 HPS3 HPS5 HSCB HSD11B1 HSPB8 HTRA1 HYAL1 HYDIN IBA57 IDH3A IDS IFIH1 IFNAR1 IFT140 IGHMBP2 IKZF1 IL36RN IL6ST IMPG2 INF2 INSR IRF2BPL IRF3 ISCU ITK ITPR1 JAG2 KCNA1 KCNC1 KCND3 KCNJ2 KCNK3 KCNMA1 KCNN2 KCNQ1 KCNT1 KCTD17 KIF12 KIF1A KIF1C KIRREL1 KISS1 KISS1R KIZ KLF1 KMT2B KPTN KRT16 LAMA2 LAMC3 LAMP2 LDHA LGI1 LIG3 LIPA LITAF LMBRD1 LMNA LMNB2 LMX1B LOX LPIN1 LRIG2 LRP12 LTBP2 LYRM7 MACF1 MAF MAFA MAFB MAGT1 MAP1B MAPKBP1 MARCHF6 MARS2 MBD4 MCCC1 MCCC2 MCM3AP MCM6 MCM9 MECR MEFV MFN2 MFSD8 MGME1 MICAL1 MIEF2 MLIP MMP13 MMP2 MOCOS MORC2 MPV17 MPZ MPZL2 MRE11 MRPS22 MSH5 MTRFR MVK MYBPC3 MYH14 MYH7 MYH9 MYL3 MYMK MYO1E MYOZ2 MYPN MYRF NAGLU NCF1 NCF2 NDUFAF6 NDUFS3 NDUFS8 NEFL NEXN NFKB1 NGF NHLH2 NHP2 NLRP3 NPC1 NPHP1 NPHS2 NR0B1 NR2E3 NRCAM NRIP1 NT5C2 NUP107 NUP133 NUP160 NUP85 OBSCN OFD1 OGDHL ORAI1 OTC OTULIN OXGR1 P2RX2 P4HA2 PANK2 PANK4 PAPPA2 PAX8 PAX9 PDCD10 PDE11A PDE6H PDGFB PDGFRB PDK3 PDXK PET117 PEX10 PEX7 PFKM PGK1 PHKA2 PHKG2 PI4KA PIDD1 PIK3CD PIK3CG PIK3R1 PIK3R5 PKD2 PLA2G6 PLCE1 PLEKHG5 PLP1 PMP2 PMP22 PMVK PNKP PNPLA6 POLE POLG POLR3A POLR3B POMGNT1 POMGNT2 PPA2 PPARG PPP2CA PPT1 PRDM16 PRDX3 PRICKLE1 PRKAG2 PRKAR1A PRKG2 PRKN PRKRA PROC PRPF4 PRPF8 PRRT2 PSENEN PSMC3IP PTF1A PTPRO PTPRQ PYGM PYROXD1 RAB28 RAB7A RAF1 RCBTB1 REEP1 REEP2 REEP6 RELN REST RETREG1 RHBDF2 RIGI RIPOR2 RNF216 RORB RP1 RP2 RPA1 RPS10 RRAGD RYR1 RYR2 RYR3 SAMD9L SBF1 SBF2 SCARB2 SCN1A SCN4A SCN4B SCN5A SCN9A SCNN1B SCNN1G SCP2 SDHD SEC23B SEC61A1 SEMA3E SERPINB7 SETX SFRP4 SGCA SGCB SGCD SGCE SGCG SGO1 SGPL1 SH3BP2 SH3TC2 SHANK3 SIGMAR1 SLC12A3 SLC12A5 SLC13A3 SLC16A1 SLC17A9 SLC19A1 SLC19A2 SLC19A3 SLC25A15 SLC25A19 SLC26A3 SLC2A1 SLC2A10 SLC30A9 SLC34A2 SLC37A4 SLC39A14 SLC39A5 SLC4A1 SLC4A3 SLC52A3 SLC5A6 SLC5A7 SLC6A1 SLC6A2 SLC7A6OS SLCO2A1 SMAD9 SMN1 SMN2 SMPD1 SNORD118 SOCS1 SOHLH1 SPG11 SPIDR SPRY4 SPTLC1 SPTLC2 SRA1 SSBP1 STAT1 STAT3 STIM1 STK4 STN1 STT3A STX1B SVIL SYNE2 TACO1 TBC1D8B TBK1 TBX18 TCF4 TDP1 TECRL TERT TGFB1 TGFB3 TGFBI TGFBR1 THAP1 THRB TIE1 TINF2 TLCD3B TLR3 TLR7 TLR8 TMC1 TMEM126B TMEM151A TMEM53 TNC TNFAIP3 TNFRSF4 TNFRSF9 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TOM1 TOR1AIP1 TPM2 TPM3 TRAF3IP2 TRAPPC2 TRDN TRPM3 TRPV4 TTBK2 TTC19 TTPA TUB TUBA3D TUBB4A TULP3 TWNK TYMP TYMS UBA5 UBAP1 UBQLN2 UCHL1 UMOD UNC13D USP48 USP53 VAMP1 VHL VPS16 WARS1 WARS2 WDR11 WDR19 WFS1 WRN XPA YEATS2 ZMYND10 ZNF408 ZNF513 ZNFX1 ZSWIM7 HP_JUVENILE_RHEUMATOID_ARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_RHEUMATOID_ARTHRITIS ACP5 DCLRE1C HLA-DRB1 IL6 LACC1 MIF HP_J_SHAPED_SELLA_TURCICA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_J_SHAPED_SELLA_TURCICA ADAMTSL2 GNPTAB GUSB IDUA MAF MTX2 OBSL1 PLOD3 POP1 RMRP SLC17A5 TRIM37 VPS33A HP_KELOIDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KELOIDS APC ATP7A COL17A1 COL7A1 CREBBP EP300 FLNA LEMD3 MAP3K7 NOTCH3 OCRL PDGFRB HP_KERATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATITIS AARS1 ABCA12 AEBP1 AIRE ALOX12B ALOXE3 BTNL2 C4A CARS1 CCR1 CERS3 CLTCL1 COL17A1 COL4A5 COL4A6 CRLF1 DDB2 EPCAM ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FAS FBN1 FGF10 FGFR2 FGFR3 GATA1 GJB2 GJB6 GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL23R IL6ST KLRC4 LBR MAB21L1 MBTPS2 MEFV MPLKIP MTTP NIPAL4 NLRP1 NLRP3 NOD2 NTRK1 PAX6 PERCC1 PLEC PNPLA1 POLH RECQL RNF113A RNF125 SCN9A SDR9C7 SLC35C1 SREBF1 STAT4 SULT2B1 TARS1 TGM1 TLR4 TP63 UBAC2 UROD UROS WAS WIPF1 XPA XPC ZEB1 HP_KERATOACANTHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOACANTHOMA ERCC4 KRT5 POFUT1 POGLUT1 PSENEN HP_KERATOCONJUNCTIVITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOCONJUNCTIVITIS AARS1 AEBP1 AIRE BTNL2 C4A CARS1 CCR1 COL17A1 ERAP1 ERCC2 ERCC3 ERCC6 ERCC8 FAS FBN1 FGF10 FGFR2 FGFR3 GATA1 GJB2 GJB6 GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR MAB21L1 MEFV MPLKIP MTTP NLRP1 NOD2 RECQL RNF113A RNF125 SCN9A SREBF1 STAT4 TARS1 TLR4 UBAC2 UROD UROS HP_KERATOSIS_PILARIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOSIS_PILARIS BRAF CARD14 COL12A1 COL6A1 COL6A2 COL6A3 FLG GJA1 GNB2 HEPHL1 KDF1 KRT16 KRT74 KRT81 KRT83 KRT86 LRP1 LZTR1 MAP2K1 MAP2K2 MARS1 MBTPS2 NLRP1 NRAS ODC1 PGM2L1 RAF1 RECQL SHOC2 SOS1 SOS2 SREBF1 WNT10A ZNF750 HP_KETOACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOACIDOSIS ABCC8 ACAT1 ACSF3 APPL1 ATP5F1D BLK BTD CA5A CEL CIDEC CLCNKB CYC1 DLD EIF2AK3 GCK GK HNF1A HNF4A HYMAI IL6 INS INSR ITPR3 IVD KCNJ11 KLF11 MCCC2 MMUT MRPL3 NEUROD1 OXCT1 PAX4 PDX1 PLAGL1 PTPN22 SHOX SLC12A3 SLC16A1 SUGCT ZFP57 HP_KETONURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETONURIA ABCC8 ACAT1 CA5A COX14 COX16 CPT1A CYC1 FDX2 GCDH GCK GYS2 HMGCL INS KCNJ11 LETM1 LRPPRC MCCC1 MCCC2 MCEE MMAA MMAB MMACHC OXCT1 PCK1 PDX1 SDHD SLC16A1 SLC25A13 SLC2A2 STAT3 SUGCT TANGO2 HP_KETOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOSIS ABCC8 ABHD5 ACADM ACAT1 ACSF3 APPL1 ATP5F1D BCKDHA BCKDHB BLK BTD CA5A CEL CIDEC CLCNKB COX6B1 CYC1 DBT DLD EIF2AK3 FBP1 GCDH GCK GHSR GK GYS2 HNF1A HNF4A HYMAI IL6 INS INSR ITPR3 IVD KARS1 KCNJ11 KLF11 LRPPRC LYRM4 MCCC2 MLYCD MMAA MMAB MMUT MRPL3 NEUROD1 OXCT1 PAX4 PDX1 PHKA2 PHKG2 PLAGL1 POLG POLG2 POLR3K PPP1R15B PTPN22 PYGL RRM2B SHOX SLC12A3 SLC16A1 SLC22A5 SLC25A4 SLC37A4 SLC5A2 SUGCT TRMT10A TWNK ZFP57 HP_KETOTIC_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOTIC_HYPOGLYCEMIA ACAD8 ACADS GYS2 HNF1A MC2R MRAP NNT PHKB SLC16A1 STAR TXNRD2 HP_KINETIC_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINETIC_TREMOR AARS1 ABCB7 ABHD12 ADPRS AFG3L2 AKT1 AMACR ANO10 ARSA ATCAY ATM ATP2B3 ATXN10 ATXN2 CACNA1A CACNA1C CAMTA1 CARS1 CCDC88C CSTB CTDP1 CWF19L1 ELOVL4 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 FARS2 FBXO7 FMR1 FXN GJB1 GJC2 GRIK2 GSS GTF2E2 GTF2H5 HSD17B4 HYCC1 ITM2B ITPR1 KCNJ10 KCNK4 KCNN2 KIF1C KNSTRN LEMD2 LMAN2L LMNB1 MAOA MPLKIP MRE11 NFASC NKX2-1 NONO NOP56 NOTCH2NLC OPHN1 PEX10 PI4KA PIK3CA PIK3CD PLA2G6 PLP1 PMM2 PNPLA6 POLG POLR3A POLR3B POU4F1 PPP1R15B PPP2R2B PRICKLE1 PSAP PTEN QRICH1 RARS1 RFC1 RNF113A RNU12 SACS SCARB2 SCP2 SCYL1 SEMA6B SLC25A46 SMG9 SNCA SPTBN1 SPTBN2 TARS1 TBP TECR TENM4 TGM6 TMCO1 TMEM106B TMEM240 TMEM63A TMEM70 TPK1 TPR TTR UCHL1 UFC1 VLDLR VWA3B WDR81 XPNPEP3 HP_KINKED_BRAINSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINKED_BRAINSTEM BLTP1 FKRP FKTN LARGE1 POMT1 POMT2 HP_KNEE_CLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_CLONUS GBA2 KIF5A MTRFR RTN2 SLC52A3 SPART SPG11 HP_KNEE_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_CONTRACTURE ACTA1 ALG14 ALG2 ANKLE2 ATP6V1E1 BAG3 BICD2 C19orf12 CFL2 CHRNB1 CHRNG CNTNAP1 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COX11 CPT2 DDR2 DHX16 DMD DPAGT1 DPM1 EMD ERCC1 ERCC6 ERGIC1 ERLIN1 ERLIN2 ESCO2 FBN1 FBN2 FDFT1 FHL1 FKBP10 FLNA GFPT1 GJB2 GJB6 GLI3 GMPPB GNB2 GNPTAB HACD1 HS2ST1 IL6ST ITGA7 JAG2 KAT6B KY LBR LGI4 LIFR LMBRD2 LMX1B MAP3K20 MEGF10 MEGF8 MYH3 MYL1 MYL11 MYL2 MYO9A NALCN NEDD4L NFATC2 NT5C2 PI4KA PIEZO2 PIGA PIGY PIK3R2 PLOD2 PSAT1 PSTPIP1 PTDSS1 PTH1R RNU4ATAC RPL10 RTTN SCARF2 SCN4A SCYL2 SDHA SDHAF1 SDHB SDHD SELENON SIK3 SLC18A3 SLC25A46 SLC39A8 SNAP25 SRD5A3 SVIL SYT2 TELO2 TPM2 TPM3 TRIM2 TRPV4 UBA1 UFC1 UNC80 ZBTB20 HP_KNEE_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_DISLOCATION AEBP1 B3GAT3 BPNT2 CHST3 COL1A1 EXOC6B FLNB HNRNPH1 RYR1 SLC10A7 SLC35A3 SLC35B2 SYNE1 TTC26 XYLT1 HP_KNEE_JOINT_HYPERMOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_JOINT_HYPERMOBILITY COMP FGFR3 LMX1B MEFV TNFRSF1A HP_KNEE_OSTEOARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_OSTEOARTHRITIS ANKRD55 CD247 COL11A1 COL2A1 COL9A2 IL2RA IL2RB MMP13 PRG4 PTPN2 PTPN22 SMAD2 SMAD3 STAT4 TRAPPC2 HP_KNEE_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_PAIN B2M BSCL2 COL2A1 COL9A1 COL9A2 COL9A3 COMP GJB2 GJB6 HYAL1 LMX1B MATN3 MMP13 SLCO2A1 TONSL TRAPPC2 HP_KNUCKLE_PAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNUCKLE_PAD CAST GJB2 KDF1 KRT1 KRT16 KRT9 LORICRIN SMARCAD1 HP_KYPHOSCOLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSCOLIOSIS ACP5 ACTA1 ACTB AEBP1 AGRN AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ARID2 ARSB ATAD1 ATG7 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 B4GALT7 BCOR BMP1 BRAF CBS CCN6 CDH11 CFL2 CHAT CHST14 CHST3 CLIC2 CLP1 COG1 COL12A1 COL13A1 COL1A2 COL2A1 CRLF1 CRPPA CTDP1 DLK1 DLL3 DNA2 DNMT3A DSE DSTYK DVL1 EBP EGR2 ELN ERCC1 ERCC2 ERCC6 EXTL3 FARS2 FBN1 FBN2 FHL1 FKBP10 FKBP14 FKRP FKTN FLNA FUT8 GDAP1 GLS GNPTAB GORAB GZF1 H1-4 HACD1 HERC1 HGSNAT HMGB3 HRAS HSPG2 HTRA1 IKBKG ITGA7 JAG1 JPH1 KCNA1 KIF22 KRAS KY LAMA2 LHX3 LMNA LRP5 MAP2K1 MAP3K20 MAPT MECP2 MEG3 MEGF8 MESD MESP2 MGAT2 MLXIPL MMP2 MPZ MRPS34 MTTP MVK MYH3 MYL2 MYO9A NAA10 NDRG1 NDUFS3 NEMF NEPRO NF1 NFIX NKX3-2 NONO NOTCH2 NRAS NSDHL NUP107 PAPSS2 PEX7 PIEZO2 PLOD1 PMM2 PMP22 PNKP POLR3A POMT1 POP1 PPP1R12A PPP1R15B PRX PTCH1 PTPN11 RAB18 RAB23 RAB3GAP1 RBM28 RECQL4 RPS6KA3 RSPRY1 RTL1 RYR1 SBF2 SELENON SETBP1 SH3PXD2B SLC10A7 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC26A2 SLC39A13 SLC52A2 SLC5A7 SLITRK2 SMS SNAP25 SNX14 SON SOX9 SPARC SPART SPG11 SRCAP STAC3 SURF1 SYNE1 SYT2 TCTN3 TELO2 TGFB3 TMEM147 TMEM165 TNNT1 TONSL TOR1A TPM2 TPM3 TRAPPC2 TRMT10A TRPV4 TTI2 TUBB3 TUBB4A UBA1 VAMP1 WDR11 WDR45B ZMPSTE24 HP_KYPHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSIS AARS1 ABCC6 ABL1 ACP5 ACTA1 ACTB AEBP1 AGA AGRN AIFM1 AIMP1 AIMP2 AIP AKT1 ALDH18A1 ALDH3A2 ALG1 ALG9 ALMS1 AMER1 ANKRD11 AP1G1 APC2 ARID1B ARID2 ARSB ARSL ASXL2 ATAD1 ATG7 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATRX AUTS2 B3GALT6 B4GALT7 BAZ1B BCL7B BCOR BGN BICD2 BIN1 BMP1 BRAF BUD23 CANT1 CARS1 CASZ1 CBS CCDC22 CCDC32 CCDC8 CCN6 CDH11 CDKL5 CFL2 CHAT CHRNG CHST14 CHST3 CLCF1 CLIC2 CLIP2 CLP1 COG1 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 COMP COPB1 CPLX1 CRLF1 CRPPA CRTAP CSF1R CTBP1 CTDP1 CTSK CUL4B CUL7 CYP27A1 DCC DHCR7 DICER1 DKK1 DLK1 DLL3 DMD DNA2 DNAJC30 DNMT3A DPYSL5 DSE DSTYK DVL1 DVL3 DYM DYRK1A EBP EGR2 EIF4H ELN EMD ERCC1 ERCC2 ERCC3 ERCC6 ERCC8 ERLIN2 EXTL3 EZH2 FA2H FARS2 FBN1 FBN2 FBXO28 FGFR3 FGFRL1 FHL1 FIG4 FKBP10 FKBP14 FKBP6 FKRP FKTN FLNA FLNB FLVCR1 FOXC2 FOXG1 FUCA1 FUT8 GABBR2 GABRD GALNS GBA1 GBA2 GDAP1 GJB1 GLB1 GLE1 GLS GNAS GNPTAB GNPTG GORAB GPR101 GRIA3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB GZF1 H1-4 H4C9 HACD1 HACE1 HDAC4 HECTD4 HERC1 HERC2 HES7 HGD HGSNAT HLA-B HMGB3 HRAS HS2ST1 HSPG2 HTRA1 HTT IDS IDUA IKBKG INPP5K IPO8 ITGA7 JAG1 JPH1 KANSL1 KCNA1 KCNAB2 KCNN3 KIF22 KLC2 KLHL41 KLLN KMT2C KMT2E KRAS KY L1CAM LAMA2 LBR LETM1 LFNG LGI3 LHX3 LIMK1 LMNA LMOD3 LRP5 LUZP1 MADD MAGEL2 MAN2B1 MAP2K1 MAP3K20 MAPK8IP3 MAPT MBTPS1 MBTPS2 MCM3AP MECP2 MED12L MED25 MEG3 MEGF8 MEIS2 MESD MESP2 METTL27 MFN2 MGAT2 MGME1 MKRN3 MLXIPL MMP14 MMP2 MMP23B MPLKIP MPZ MRPS34 MTTP MVK MYH3 MYL2 MYO1H MYO9A NAA10 NARS1 NCF1 NDRG1 NDUFAF1 NDUFAF4 NDUFS3 NEB NELFA NEMF NEPRO NEU1 NF1 NFIX NKX3-2 NONO NOTCH2 NOTCH3 NPAP1 NPR2 NRAS NSD1 NSD2 NSDHL NTNG1 NUP107 NUP88 NXN OBSL1 OCRL P3H1 P4HB P4HTM PAPSS2 PDE11A PDPN PEX7 PHF6 PHF8 PI4KA PIEZO2 PIGG PIK3C2A PIK3CA PIK3R2 PLAA PLOD1 PLOD2 PMM2 PMP22 PNKP POLD1 POLR3A POMT1 POP1 PPIB PPP1R12A PPP1R15B PRDM13 PRDM16 PRKAR1A PRKCZ PRKG2 PRPS1 PRX PTCH1 PTDSS1 PTEN PTPN11 PUF60 PUS1 PWAR1 PWRN1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RBM28 RECQL4 RERE RET RFC2 RIPPLY2 RMRP RNF113A RNU12 ROBO3 ROR2 RPS6KA3 RSPRY1 RTL1 RUNX2 RYR1 SBF2 SCARB2 SCN4A SDHB SDHC SDHD SEC23B SEC24D SELENON SETBP1 SETD2 SETD5 SH2B1 SH3PXD2B SHROOM4 SIL1 SIN3A SKI SLC10A7 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC26A2 SLC39A13 SLC52A2 SLC52A3 SLC5A7 SLITRK2 SMARCAL1 SMC1A SMC5 SMS SNAP25 SNORD115-1 SNORD116-1 SNRPB SNX14 SON SOX9 SPARC SPART SPEN SPG11 SPRED2 SPTBN1 SRCAP SRD5A3 STAC3 STX1A SURF1 SVIL SYNE1 SYNE2 SYT2 TAF1 TARS1 TBC1D20 TBL2 TBX2 TBX5 TCF12 TCTN3 TELO2 TFAP2A TGFB1 TGFB3 TLK2 TMEM147 TMEM165 TMEM231 TMEM270 TMEM43 TNFRSF11B TNNT1 TONSL TOR1A TPI1 TPM2 TPM3 TRAPPC2 TRIO TRMT10A TRPV4 TTC5 TTI2 TUBB3 TUBB4A UBA1 UBE4B UBTF UFSP2 UPF3B USF3 USP7 USP8 VAMP1 VPS13B VPS33A VPS35L VPS37A VPS37D WASHC5 WDR11 WDR45B WDR81 WIPI2 WNT1 WNT3A XYLT2 YARS2 ZBTB20 ZC4H2 ZMPSTE24 ZNF407 HP_LABIAL_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LABIAL_HYPERTROPHY AGPAT2 BSCL2 ESCO2 HYMAI INSR KAT6B LMNA PLAGL1 HP_LACK_OF_INSIGHT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_INSIGHT CHMP2B GRN MAPT PSEN1 SQSTM1 TBP TMEM106B TREM2 TYROBP VCP HP_LACK_OF_SKIN_ELASTICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_SKIN_ELASTICITY ABCA12 ABCC6 ADAMTSL2 AIP ALOX12B ALOXE3 ARMC5 ASPRV1 ATRX BGN BRAF CDH23 CDKN2A COL1A1 COL5A1 COL5A2 COPB1 CTNNB1 CUL4B CYP4F22 DLG4 EFEMP2 ENPP1 FBLN5 FBN1 GNAS HRAS IPO8 LIPN LMNA LOX LSS LTBP1 NIPAL4 NR3C1 PAH PDE11A POLD1 PRKAR1A PYCR1 SDR9C7 SMAD2 SMAD3 SMARCAD1 SPEN SULT2B1 TERT TGFB2 TGFBR1 TGFBR2 TGM1 TNXB TP53 USP48 USP8 WRN ZMPSTE24 ZNRF3 HP_LACK_OF_T_CELL_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_T_CELL_FUNCTION ADA AK2 CIITA JAK3 RFX5 RFXANK RFXAP HP_LACRIMAL_DUCT_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_APLASIA EYA1 FGF10 FGFR2 FGFR3 FRAS1 FREM2 GRIP1 KMT2D SIX1 TRRAP HP_LACRIMAL_DUCT_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_ATRESIA FGFR3 IGSF3 NDUFB11 PAX3 SMCHD1 TP63 HP_LACRIMAL_DUCT_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_STENOSIS CD151 EYA1 KAT6A KNSTRN MED12 PAX1 PIK3CD PPP1CB PTDSS1 SIX1 SPRED2 TCOF1 TET3 TP63 YY1 HP_LACRIMATION_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMATION_ABNORMALITY AAAS ALX4 AP1B1 ATOH7 BAZ1B BCL7B BUD23 CHD7 CLDN10 CLIP2 COL17A1 COL8A2 DKC1 DNAJC30 DST EIF4H ELN ELP1 ERCC4 ERCC6 ERCC8 EYA1 FGF10 FGFR2 FGFR3 FKBP6 FOXL2 FZD4 GMPPA GRHL2 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 IGSF3 IL6ST KRT12 KRT3 LIFR LIMK1 LRP1 MADD MAPT METTL27 MLXIPL NCF1 NDP NGLY1 NHP2 NLRP3 NOP10 OCRL OVOL2 PARN PAX1 PAX3 PIGQ PRDM12 RFC2 SCN9A SDHD SEMA3E SEMA4A SETBP1 SIX1 SLC12A2 SLC39A14 SOX10 SREBF1 STX1A TACSTD2 TBL2 TINF2 TMEM270 TP63 TRAPPC11 TWIST2 TYMS UBR1 VPS37D VSX1 ZEB1 ZFHX2 HP_LACTICACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTICACIDURIA ATPAF2 BCS1L CA5A GATM LDHD LIPT1 LYRM4 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NDUFA9 NDUFB10 NDUFS4 NFS1 NFU1 PDP1 PET117 SDHD SLC25A21 SUCLG1 TMEM126B TRMU HP_LACTIC_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTIC_ACIDOSIS AARS2 ACAD9 AGK ALDH7A1 ALDOB ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BCKDHA BCKDHB BCS1L BOLA3 C1QBP CA5A CAMKMT COA6 COA8 COQ2 COQ8A COQ9 COX10 COX15 COX16 COX6B1 COX8A CYC1 DBT DGUOK DLAT DLD DNM1L EARS2 ELAC2 ETHE1 FARS2 FBP1 FBXL4 FDX2 FH FOXRED1 G6PC1 GATB GATC GFER GTPBP3 HADH HADHA HLCS HSD17B10 IBA57 ISCU LARS1 LARS2 LIAS LIG3 LIPT1 LIPT2 LONP1 LRPPRC LYRM4 LYRM7 MARS1 MICOS13 MIPEP MLYCD MPC1 MPV17 MRPS14 MRPS16 MRPS22 MRPS34 MRPS7 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTO1 NADK2 NAXE NDUFA1 NDUFA10 NDUFA11 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NSUN3 NUBPL OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PDP1 PET100 PHKA2 PHKB PHKG2 PLPBP PMPCA PNPLA8 POLG PPM1B PREPL PUS1 PYGL QRSL1 RMND1 RRM2B RYR1 SCO2 SDHA SDHD SERAC1 SFXN4 SLC25A13 SLC25A19 SLC25A26 SLC25A3 SLC25A4 SLC25A42 SLC37A4 SLC3A1 SLC52A1 SQOR SUCLA2 SUCLG1 SURF1 TAFAZZIN TANGO2 TIMMDC1 TK2 TKFC TMEM126B TMEM70 TPK1 TRMT10C TRMT5 TRMU TRNT1 TSFM TUFM TYMP UQCC2 UQCC3 UQCRFS1 USP18 VARS2 WARS2 YARS2 HP_LACTOSE_INTOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTOSE_INTOLERANCE LCT MCM6 MTOR PGM3 SATB1 HP_LACUNAR_STROKE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACUNAR_STROKE COL4A1 COLGALT1 HTRA1 NAGA NOTCH3 PIK3C2A HP_LAGOPHTHALMOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAGOPHTHALMOS CDH1 CTNND1 ECEL1 HNRNPK HOXB1 LMNA MYMK NGLY1 POLR3A PRR12 RIPK4 ZMPSTE24 HP_LAMBDOIDAL_CRANIOSYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS BMP4 ERF FGFR2 HNRNPK IL11RA KRAS MASP1 PIGT POR RAB23 RAC3 RECQL4 RNU12 SEC24D TWIST1 ZIC1 HP_LAMELLAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMELLAR_CATARACT BFSP1 CRYBA4 CRYGB CRYGS HSF4 MIP HP_LAMINA_LUCIDA_CLEAVAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMINA_LUCIDA_CLEAVAGE COL17A1 COL7A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS CDKN1A CDKN1B CDKN2B CDKN2C GNAS MEN1 HP_LARGE_EARLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_EARLOBE BICRA BRAF CDH11 DHCR24 DOCK7 DPYD EFTUD2 EIF2S3 ELN FGD1 GJA1 HRAS MLXIPL NOTCH2 OTUD5 PGAP3 PGM2L1 PHF6 PHIP PIGY PIK3CA PLXNA1 SETBP1 SLC26A2 SMOC1 SPEN TMEM94 TPRKB TRIP12 UFC1 UGDH VPS53 WARS1 WDR4 ZEB2 HP_LARGE_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FACE ACTA1 ADAT3 ADNP AGA AGRN AHI1 AIP AKT1 ALG12 ALKBH8 ANKRD11 AP1S2 APC APC2 ARL13B ARL3 ARMC9 ARVCF ASPH ASXL1 ASXL2 ATAD3A ATG7 ATP7A B3GLCT B9D1 B9D2 BCAS3 BCOR BCORL1 BCR BIN1 BRAF BRAT1 BRWD3 C12orf57 CAMTA1 CBY1 CC2D2A CCDC115 CCDC174 CDC42BPB CEP104 CEP120 CEP290 CEP41 CEP57 CHAMP1 CHAT CHRNB1 CHRNE CHRNG CLCF1 CLCN3 CLCN4 COL13A1 COL3A1 COMT CPLANE1 CPSF3 CRKL CRLF1 CSPP1 CUX1 DDR2 DDX3X DEAF1 DHX30 DNM1 DOCK3 EBF3 EIF2S3 ERCC1 ERCC4 ERCC6 ERCC8 EXTL3 EYA1 FAM149B1 FBN1 FBXO11 FGF3 FLII FLNA FLNB FMR1 FRA10AC1 GALNT2 GFPT1 GP1BB GPR101 GRIN1 HACD1 HDAC4 HERC1 HIRA HNRNPH1 HNRNPK HRAS HUWE1 HYLS1 IDUA IFT74 INPP5E IQSEC2 ITGA7 JMJD1C KANSL1 KAT6A KATNIP KBTBD13 KCNK9 KIAA0586 KIAA0753 KIF7 KLHL41 KMT2B KRAS LETM1 MAN1B1 MAP2K1 MAP2K2 MAP3K20 MAPK1 MAPK8IP3 MAPRE2 MED12 MEIS2 MGP MID2 MKS1 MMACHC MOCS1 MOCS2 MRAS MSTO1 MTM1 MYH3 MYL2 MYO9A MYPN NBAS NEB NEDD4L NF1 NFIA NFIB NFIX NHS NKAP NONO NPHP1 NRCAM NSD1 NSDHL NSUN2 OCRL OFD1 OPHN1 OTUD6B PAK1 PBX1 PCDHGC4 PCGF2 PDE4D PDE6D PEX13 PHF8 PIBF1 PIGK PIGU PMM2 POC1A POLA1 POU4F1 PPP1R12A PPP2R5D PQBP1 PRDX1 PRKACA PRKACB PTCH1 PTEN PURA PYROXD1 RAB39B RAI1 RAPSN RECQL4 RIC1 RMRP RPGRIP1L RPL10 RREB1 RUSC2 RYR1 SATB2 SCN4A SCUBE3 SEC24C SELENON SETBP1 SETD2 SGCG SIN3A SIX1 SLC12A6 SLC16A2 SLC18A3 SLC25A1 SLC2A10 SLC5A7 SLC6A8 SLC9A6 SLC9A7 SLF2 SMAD2 SMAD3 SMC5 SMS SNAP25 SNAP29 SNX14 SOST SOX6 SPEG SPEN SRCAP STEEP1 STRADA STT3A SUFU SYNE1 SYNGAP1 SYT2 TAB2 TAF1 TBL1XR1 TBX1 TCF20 TCTN1 TCTN2 TCTN3 TET3 TGFB3 TLK2 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNNT1 TOGARAM1 TONSL TOPORS TP53RK TPM2 TPM3 TPRKB TRAIP TSPAN7 TTC26 TTC5 TTN UBE2A UBE3B UFD1 UPF3B VAMP1 WNT7A XRCC4 ZNF423 ZNF711 HP_LARGE_FLESHY_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FLESHY_EARS ALG9 ATP6V1B2 COLEC10 COLEC11 KCNH1 KCNMA1 KCNN3 MASP1 NARS1 PIGN TAPT1 TBL1XR1 TNPO2 TRAPPC9 HP_LARGE_FONTANELLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FONTANELLES ACE ACTA1 ACTB ACTG1 ADAMTS2 AGT AGTR1 ALDH18A1 ALG1 ALG8 ALG9 ALPL AMER1 ANTXR1 ARX ASXL3 ATP6V0A2 ATP7A B3GLCT BMPER CAV1 CBFB CCDC22 CDC45 CDH11 CDKN1C CHST14 CHUK CLCN3 COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP CYP27B1 CYP2R1 DCHS1 DDR2 DDX3X DICER1 DLK1 DSE DUOX2 DUOXA2 DVL1 EBP EFEMP2 EP300 ETFA ETFB ETFDH FAM20C FAT4 FBLN5 FGFR2 FGFR3 FIG4 FLNA FOXE1 GJA1 GLI3 GLIS3 GNPAT GPX4 HESX1 HNF1B HOXD13 HPGD HRAS HSD17B4 IFT140 IGF2 INPPL1 INTU IYD KCNQ1 KCNQ1OT1 KIF7 KLF1 KLHL40 KLHL41 LHX1 LHX3 LHX4 LIG4 LMNA LMOD3 LRP2 LTBP1 LTBP4 MAF MASP1 MED12 MEG3 MID1 MPDU1 MSX2 MTOR MVK NAA10 NDUFAF3 NEB NEPRO NKX2-1 NKX2-5 NPHP3 NSMCE3 NSUN2 P3H1 PAM16 PAX8 PCGF2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGA PIGQ POLR3A POR POU1F1 PPP2R5D PROP1 PTDSS1 PYCR1 RBM10 RECQL4 REN RNU12 ROR2 RTL1 RUNX2 SEC23A SETBP1 SH3PXD2B SHPK SIX2 SKI SLC25A24 SLC26A4 SLC34A3 SLC5A5 SMG9 SOX9 SPTBN1 TALDO1 TG TPO TSHB TSHR TWIST1 USP7 VDR VPS35L WNT5A WT1 ZMPSTE24 ZSWIM6 HP_LARGE_FORAMEN_MAGNUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FORAMEN_MAGNUM CREBBP EP300 FLNA GPSM2 RAB23 RUNX2 HP_LARGE_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOREHEAD AMMECR1 ARID2 BMPR1A CAMTA1 COL25A1 FLNA FMR1 GNB2 HS6ST2 LEMD2 LMX1B MEIS2 ODC1 PDE4D POU4F1 PTEN RNF125 SPOP SRC STRADA STXBP1 SUMF1 TAOK1 TMLHE TOE1 UNC45A VPS33A ZFHX4 HP_LARGE_FOR_GESTATIONAL_AGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOR_GESTATIONAL_AGE ABCC8 ABCC9 AKT2 ANK3 APPL1 BIN1 BLK BRAF CEL DICER1 DIS3L2 DLK1 DNM2 EDNRB EHMT1 FIBP GCK GLI3 HERC1 HNF1A HNF4A IFT74 INS KCNJ11 KLF11 KMT2C MEG3 MTMR14 MTOR MYF6 NDST1 NEUROD1 ODC1 PAX4 PDX1 PIGA PIGL PIGN PIGT PTCH1 PTEN RAF1 RIT1 RNF135 RTL1 RYR1 SHOC2 SOS1 SUFU TMCO1 UCP2 HP_LARGE_HANDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_HANDS AGPAT2 AIP APC2 ARCN1 ASNS BSCL2 CAV1 CAVIN1 EED EZH2 FIBP FOS GPR101 HERC1 INSR KDM5C KIT MEN1 NF1 NSD1 PACS1 PEX1 PEX6 PHF8 PIGL POLR3A POR PPARG RNU4ATAC RPS6KA3 SDHB SDHC SETD2 SHANK3 SUZ12 HP_LARGE_ILIAC_WING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_ILIAC_WING AMER1 ATP7A B3GALT6 GUSB RNU4ATAC SMAD4 HP_LARGE_INTESTINAL_POLYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_INTESTINAL_POLYPOSIS AKT1 APC AXIN2 BMPR1A CDKN2A CHEK2 DICER1 ENG EPCAM FLCN GREM1 KEAP1 KLLN MBD4 MDM2 MLH1 MSH3 MUTYH NTHL1 PIK3CA PMS2 POLD1 POLE PTEN RNF43 SDHB SDHC SDHD SEC23B SMAD4 TP53 USF3 HP_LARGE_PLACENTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_PLACENTA DLK1 LBR LMNA MEG3 MKS1 RTL1 SKIC3 ZMPSTE24 HP_LARGE_POSTERIOR_FONTANELLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_POSTERIOR_FONTANELLE DUOX2 DUOXA2 GPX4 HESX1 INTU IYD LHX3 LHX4 NAA10 PAX8 PEX26 POU1F1 PROP1 RNU12 SLC5A5 TG TPO TSHB TSHR HP_LARGE_SELLA_TURCICA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_SELLA_TURCICA ABCC9 ATRX BRAF CDH23 GLB1 GNPTAB NR3C1 PCNT SOST TBC1D2B TP53 TSHB USP48 USP8 ZSWIM6 HP_LARYNGEAL_CLEFT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_CLEFT CAPN15 EDN1 FBXW7 GLI3 MID1 PHIP SPTBN1 HP_LARYNGEAL_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_DYSTONIA ATP5MC3 COL6A3 FTL GNAL GNAS KCTD17 KMT2B PRKRA STX16 THAP1 TUBB4A VPS11 VPS13A HP_LARYNGEAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_EDEMA EPHB4 HS3ST6 PLG SERPING1 XPNPEP2 HP_LARYNGEAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_HYPOPLASIA CILK1 HYLS1 INTU KRAS PRRX1 SF3B4 HP_LARYNGEAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STENOSIS DDRGK1 EXTL3 FERMT1 FLNB FRAS1 FREM2 GRIP1 KIF22 LAMA3 LAMB3 LAMC2 MYMK MYMX SLC26A2 SMAD4 HP_LARYNGEAL_STRIDOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STRIDOR ASAH1 BRF1 BTD PLP1 TAF1 UBE3B HP_LARYNGOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOMALACIA ADARB1 AFF4 AHDC1 APC ARVCF ASXL3 ATP6V1E1 BRF1 CACNA1C CHD7 COL12A1 COMT CREBBP CTSK DLK1 DTYMK EFL1 EP300 FGFR2 GALC GMNN GP1BB H3-3A H3-3B HAAO HDAC4 HIRA HNRNPR HOXD13 HSPG2 HYLS1 IDH1 JMJD1C KANSL1 KAT6A KAT6B KCNMA1 KIF7 KRT14 KRT5 LMNA LRP4 LTBP4 MEG3 MEIS2 NFIX NRCAM ORC6 PCNT PKDCC POLR3A POR PPM1D PRMT7 PSAP RAF1 RALGAPA1 RFX7 RPL10 RREB1 RTL1 SATB2 SCARF2 SEC24C SEMA3E SETBP1 SIAH1 SMAD2 SNIP1 SOX4 SOX9 SYT1 TBX1 TBX3 TCTN3 UBE3B UFC1 UFD1 VPS13B WRN ZBTB7A ZNF699 HP_LARYNGOTRACHEOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOTRACHEOMALACIA COL2A1 EMC1 FLNB HK1 KIF22 TONSL TRRAP HP_LATERAL_CLAVICLE_HOOK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_CLAVICLE_HOOK CDT1 DYNC2H1 DYNC2I1 DYNC2I2 DYNLT2B IFT172 IFT81 INPPL1 INTU NEK1 ORC1 RBM8A SCARF2 SKI SLC35D1 HP_LATERAL_VENTRICLE_DILATATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_VENTRICLE_DILATATION AARS2 ADNP AHI1 ALDH6A1 ALG2 ASXL3 ATP6AP2 BICD2 CCDC174 CLCN3 CLTC COASY COG1 COG5 CSPP1 CUX1 D2HGDH DCX DOCK6 DTYMK EIF2B5 EML1 EZH2 FBXW11 GAN GCDH GFM2 GLUL GRIN1 GRN HS6ST2 KCNJ6 KCTD1 KDM6A KIAA0586 KIAA0753 KIDINS220 KLHL15 KMT2D LARGE1 LIPT2 LONP1 MAPKAPK5 MED25 MEF2C MTHFS NDUFB11 NEK1 NFIX ODC1 PDHA1 PGAP3 PIGA PPP2R5D PSAT1 PTPN23 PUS3 RAB3GAP1 RAC1 RNU4ATAC RNU7-1 SATB1 SLC35A2 SMG9 SNRPN SON SPG11 SPRED2 TAF8 TAOK1 TMEM147 TNFRSF11A TTC26 TTC5 TUBB2B TUBB3 TYROBP USP18 VPS13A VPS51 VRK1 WARS2 YIPF5 YY1 ZEB2 ZIC1 ZIC2 HP_LATE_FIRST_TRIMESTER_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_FIRST_TRIMESTER_ONSET B9D1 BMPER FGFR3 KMT2D PLXND1 TBXT TXNDC15 HP_LATE_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET AAGAB ABCA7 ABCC8 ACTC1 ADH1C AKT2 ANLN ANXA11 APOE APP ATN1 ATXN2 ATXN8OS BAG3 BAP1 BBS2 BEAN1 BLVRA BMP6 C1QBP CAPN3 CAV1 CCNF CFH CFHR1 CFHR3 CHCHD10 CHCHD2 CLEC3B CLN6 CYLD DGUOK DSC2 DSG2 EIF4G1 ELOVL4 ENPP1 EPCAM ERBB4 FBLN5 FLNC FMR1 GANAB GBA1 GCK GLUD2 GPD2 GYG1 HAVCR2 HMCN1 HMGA1 HNF1A HNF1B HNF4A HSPB1 HTRA1 IGF2BP2 IL6 IMPG2 IRS1 IRS2 JAK2 KCND3 KCNE2 KCNJ11 KLKB1 KRT18 LAMA4 LDB3 LIPC LMX1B LOX LRRK2 MAFA MAPK8IP1 MAPT MARS1 MME MT-TT MTNR1B MYBPC3 MYH6 MYPN NAGLU NEK1 NEUROD1 NEXN NOL3 NPTX1 NR4A2 NRIP1 OPTN OXGR1 PABPN1 PAX4 PDGFRB PDX1 PDYN PPARG PPP1R3A PSEN2 PTPN1 RETN RPS14 SDHD SEC23B SFTPA1 SLC2A2 SLC30A8 SNCA SNCAIP TARDBP TBP TCF7L2 TGFBI THSD1 THSD4 TIA1 TMEM43 TNNC1 TOP3A TPM1 TRPM7 TTBK2 TUBA4A UBQLN2 UQCRC1 VCL WFS1 HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS CACNA1S CRYAB DES GABRA3 HNRNPA1 KCNE3 KCNJ18 SCN4A HP_LATE_YOUNG_ADULT_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_YOUNG_ADULT_ONSET ANXA11 ATP7B ATXN3 CACNB4 CAV3 CFH CHCHD10 CHRNA2 CLCN2 CSF1R CYP27A1 DNM1L EPCAM GDAP2 GFAP H6PD HSPB1 KCNA5 KCNJ11 LBR MAPT MFSD8 MME MYH7 NAGA POLG POLG2 PRNP PRPH2 PSEN1 PSEN2 PTEN RAX2 SAMD9L SCN3B SLC22A12 SYNJ1 TMEM126B VAPB VCP XRCC1 HP_LEBER_OPTIC_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEBER_OPTIC_ATROPHY MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 PRICKLE3 HP_LEFT_ANTERIOR_FASCICULAR_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK ACTC1 FLNC LMNA SCN5A TNNC1 TNNI3K TRPM4 HP_LEFT_BUNDLE_BRANCH_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_BUNDLE_BRANCH_BLOCK ACTC1 CDH2 CTNNA3 DSG2 FLNC LDB3 LMNA MYBPC3 MYL2 MYOZ2 POLG2 PRKAG2 PSEN1 PSEN2 SCN5A TNNC1 TNNI3K TRPM4 HP_LEFT_SUPERIOR_VENA_CAVA_DRAINING_TO_CORONARY_SINUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_SUPERIOR_VENA_CAVA_DRAINING_TO_CORONARY_SINUS CIROP MED25 PRKACB SLC29A3 ZIC3 HP_LEFT_TO_RIGHT_SHUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_TO_RIGHT_SHUNT ACTC1 CITED2 GATA4 GATA6 MYH6 NKX2-5 TBX20 THOC6 TLL1 TTC26 HP_LEFT_VENTRICULAR_DIASTOLIC_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_DIASTOLIC_DYSFUNCTION ADAMTS19 ALPK3 FLNC LMNA PRDM16 ZMPSTE24 HP_LEFT_VENTRICULAR_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_HYPERTROPHY ABCA1 ABCC9 ACTC1 ACTN2 ADAM17 AIP ARL6 ARSK ATP6AP2 B3GAT3 BBS1 BIN1 C1QBP CACNA1D CCDC28B CHST3 CLN3 COG1 COL1A2 COQ7 COQ9 COX16 DMD DTNA EGFR EPG5 ESPN FHL1 FKRP FLNC FZR1 GAA GLA GLRX5 GNPTAB GTPBP3 GYS1 HADHA HADHB HCN4 HSD11B2 JPH2 KCNJ5 LDB3 LOX LRPPRC LZTR1 MEN1 MOGS MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTX2 MYH6 MYL2 MYL3 MYOZ2 MYPN NAXD NDUFS2 NEXN NKX2-5 NONO NPPA PLN POLG POLG2 POMT1 POMT2 PSEN1 PSEN2 RIT1 RNU7-1 RRM2B RYR1 SCN5A SCO1 SDHA SDHAF1 SDHB SDHD SLC25A24 SLC25A4 SMAD3 SPEG SVIL TCAP TLL1 TNNI3 TNNT2 TPK1 TRMT10C TTN TTR TWNK WDR35 ZNF462 ZNF687 HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY CRLS1 DTNA MIB1 MLYCD MYL2 MYOCD NONO RYR2 TPM1 HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION FHOD3 GAA GDF1 KLHL24 MYH6 NR2F2 TAB2 VCL HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION AARS2 ABCC6 ABCC9 ACADVL B2M BAG5 COA6 CRYAB CSRP3 DES DSG2 DYSF ENPP1 FHOD3 FKTN GATAD1 GET3 GJA5 GTPBP3 KCNJ5 KLHL24 LAMA2 LAMA4 LAMP2 LMNA LMOD2 MYBPC3 MYH6 MYH7 MYL3 MYOZ2 NEXN NPPA POLG POLG2 POMT2 PPCS PRDM16 PSEN1 PSEN2 RAF1 RBM20 RPL3L RRAGD RRM2B SCN5A SDHA SDHD SGCD SGCG SLC25A4 SLC6A6 TNNC1 TNNI3 TNNT2 TOP3A TTN TTR TWNK VCL VEZF1 ZMPSTE24 HP_LEG_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_DYSTONIA ACTB AOPEP FTL GFM2 KMT2B PARK7 VPS16 HP_LEG_MUSCLE_STIFFNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_MUSCLE_STIFFNESS ABCD1 ANO10 ATP13A2 CRYAB DARS2 DNAJC6 KIF1A KIF5A LDB3 MT-ATP6 PI4KA PODXL SPAST SYNJ1 VAMP1 ZFYVE26 HP_LEIOMYOSARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEIOMYOSARCOMA AKT1 APC AURKA AXIN2 BAX BRAF BUB1 BUB1B CCND1 CHEK2 CTNNB1 DCC DLC1 EP300 FGFR3 FH FLCN MCC MLH3 NRAS PDGFRL PIK3CA PLA2G2A PTPN12 PTPRJ RAD54B SRC TLR2 TP53 HP_LENS_LUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_LUXATION C12orf57 COL11A1 COL2A1 FBN1 MOCS1 MOCS2 PAX2 HP_LENS_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_SUBLUXATION ASPH BAP1 CBS CHRDL1 COL18A1 COL2A1 CYSLTR2 ELP4 GNA11 GNAQ LOXL1 P3H2 PCYT1A SALL2 SF3B1 HP_LENTICONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENTICONUS COL4A3 COL4A4 COL4A5 COL4A6 CRYAB LAMB2 PRPH2 RDH5 RHO RLBP1 HP_LETHAL_SKELETAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHAL_SKELETAL_DYSPLASIA COL2A1 DYNC2H1 DYNC2I1 DYNC2I2 IFT80 LBR PTH1R SLC26A2 TRIP11 WDR35 HP_LETHARGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHARGY ABAT ABCC8 ABCD4 ACADM ACADS ACADSB ACADVL ADA2 AGR2 ALDOB ALG12 AMT ASL ASPA ASS1 ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 AVP BCKDHA BCKDHB BMP6 BNC2 BOLA3 BTD CA5A CDKN1A CDKN1B CDKN2B CDKN2C CDON COX5A CPS1 CPT1A CPT2 CYP24A1 DBT DDC DISP1 DLD DLL1 DPYD DPYS DUOX2 DUOXA2 EIF2B1 FBP1 FGF8 FGFR1 FOXH1 FOXRED1 GABRB2 GALT GAS1 GATA1 GCH1 GK GLDC GLI2 GUF1 GYS2 HADH HADHA HADHB HAMP HEATR3 HESX1 HFE HIBCH HJV HLCS HMGCL HNF1A HNF4A IVD IYD KCNJ11 KRT18 LHX3 LHX4 LMBRD1 LYRM7 MAGEL2 MCCC1 MCCC2 MEN1 MMAA MMAB MMACHC MMADHC MMUT MRPS16 MT-ATP6 MT-ATP8 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-TT MTHFR MTRR NAA10 NAGS NAXD NBAS NDE1 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFS1 NFU1 NODAL NUBPL OTC PAX2 PAX8 PBX1 PCCA PCCB PDHA1 PEX2 PIGA PLCH1 POLG POLG2 POU1F1 PRDX1 PROP1 PTCH1 RARS2 RMND1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRM2B RYR1 SCO2 SHH SIK1 SIM1 SIX3 SLC19A2 SLC19A3 SLC1A2 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A4 SLC2A1 SLC31A1 SLC39A4 SLC4A1 SLC52A1 SLC5A5 SLC7A7 SMC1A STAG2 STIL SUGCT TBK1 TCN2 TDGF1 TFAM TG TGIF1 TH TIMMDC1 TLR3 TMEM126B TPO TRHR TSHB TSHR TSPOAP1 TSR2 TWNK UCP2 USP18 YARS2 YY1 ZIC2 HP_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKEMIA ABL1 ADA2 ADAR ADH5 ALAD ANAPC1 APC APC2 ARHGAP26 ASXL1 ATM ATRX BAX BCR BLM BRAF BRCA2 BRD4 BUB1 BUB1B BUB3 CALR CBL CDKN2A CEBPA CEP57 CHEK2 CHIC2 CLPB CREBBP DDX41 DKC1 DNAJC21 DNMT3A DUT DYNC2LI1 EFL1 ELANE EP300 ERBB3 ETV6 EVC EVC2 F13A1 F13B FANCA FANCC FANCD2 FANCE FANCG FLT3 GATA1 GATA2 GFI1 GLI1 GNB1 H4C9 HAX1 HEATR3 IDH1 IFIH1 IKZF1 JAK2 KIF11 KIT KRAS LIG4 LPP LSM11 LZTR1 MAP2K1 MBD4 MDM2 MEFV MLH1 MLLT10 MPL MSH2 MYD88 NBN NF1 NPM1 NRAS NSD1 NSUN2 NUMA1 NUP214 NUTM1 PDGFRA PDGFRB PICALM PIGL PIK3CA PIK3R1 POT1 PRKACA PRKACB PTPN11 RARA RB1 RECQL4 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SAMHD1 SBDS SCN10A SCN11A SCN9A SETBP1 SETD2 SF3B1 SH2B3 SH3GL1 SMPD1 SPRED1 SRP19 SRP54 SRSF2 STS TAL1 TAL2 TCF3 TCIRG1 TERC TERT TET2 THPO TP53 TREM2 TREX1 TRIP13 TSR2 TYROBP UBE2T WAS WIPF1 XRCC4 HP_LEUKOCORIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCORIA ARL6IP6 ATOH7 FZD4 GNA11 NDP RB1 TINF2 HP_LEUKOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCYTOSIS ABL1 ACAT1 ADA ADA2 AGR2 ANKRD26 AP1S3 ARPC1B ASXL1 ATRX BCL11B BCOR BCR BRAF BTNL2 CALR CAPN3 CARD11 CARD9 CASK CASP10 CASR CBL CD247 CD3D CD3E CDH23 CDSN CFTR CHD7 CLPB CPA1 CTRC DCLRE1C DOCK8 EIF2AK3 ELANE ELF4 EXTL3 FAS FASLG FERMT3 FIP1L1 FOCAD FOXP3 G6PD GATA2 GFI1 HBB HLA-DRB1 HMGCL IFNG IFNGR1 IKBKG IL2RG IL36RN IL37 IL6ST IL7R IPO8 IRF2BP2 IRF8 ITGB2 JAK1 JAK2 KIT KRAS LACC1 LIG4 LMNB2 LPIN2 MEFV MICU1 MPL MVK NABP1 NCKAP1L NFKBIA NHLRC2 NLRP1 NLRP12 NLRP3 NPM1 NR3C1 NRAS NUMA1 OAS1 OSTM1 OTULIN PDGFRA PDGFRB PGM3 PIK3CD PIK3CG PKHD1 PML PRKAR1A PRKCD PRSS1 PRSS2 PTPRC RAC2 RAG1 RAG2 RARA RASGRP1 RBCK1 RBM8A REL RMRP RNASEH2B RNU4ATAC RUNX1 SALL4 SF3B1 SH2D1A SLC27A4 SLC35C1 SLC46A1 SPINK1 SPINK5 SREBF1 SRP19 SRP54 SRSF2 STAT2 STAT3 STAT5B TBK1 TBL1XR1 TBX21 TCIRG1 TET2 TGFB1 TICAM1 TLR3 TNFRSF1A TP53 TRAC TRAF3 TTC7A UNC93B1 USP48 USP8 WAS XIAP XRCC4 ZAP70 ZBTB16 ZNF341 ZPR1 HP_LEUKODYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKODYSTROPHY ABAT ACER3 ACOX1 ADAR AIMP1 AIMP2 ALG8 ARSA ATP11A BOLA3 COA8 COX6B1 CTC1 DAG1 DARS2 EDNRB EPRS1 ERCC6 EXOSC5 FA2H FBP2 FBXL4 FOXRED1 GJC2 GLRX5 GTPBP3 HIKESHI HSPD1 HYCC1 IBA57 IFIH1 ISCA1 ISCA2 KARS1 LIAS LMNB1 LSM11 MT-ND1 MT-ND2 MT-ND3 NADK2 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NKX6-2 NOTCH2NLC NUBPL PC PEX1 PEX10 PEX16 PI4KA PLEKHG2 PLP1 PNPT1 POLR1C POLR3A POLR3B PSAP PYCR2 RARS1 REPS1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHB SLC16A2 SLC35B2 SNORD118 SOX10 SP110 SPTBN1 TAOK1 TIMMDC1 TMEM106B TMEM126B TMEM63A TREX1 TUBB4A TUFM HP_LEUKOENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOENCEPHALOPATHY AARS1 AARS2 ABCC9 ABCD1 ABHD16A ACP5 ACTA2 ACTL6B AIFM1 ALDH18A1 ALG8 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARHGAP31 ARID2 ARSA ATP13A2 AUH B3GALNT2 BRF1 CA2 CARS1 CDC42 CDK13 CLCN2 CLCN4 CLN5 CLN6 CLPB CNBP CNKSR2 CNP CNTNAP2 COA7 COA8 COL4A1 COLGALT1 CPLX1 CSF1R CTBP1 CTC1 CYP27A1 DARS1 DARS2 DDHD2 DEGS1 DLL4 DNM1L DOCK6 DPM2 DPM3 EARS2 EDEM3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EOGT ERCC2 ERCC3 FA2H FARSA FCSK FGFRL1 FKRP FOXRED1 GALC GFAP GM2A GMPPB GNB2 GTF2E2 GTF2H5 HEPACAM HIBCH HIKESHI HK1 HMGCL HTRA1 ISCA2 KARS1 KCNN2 KIF5A L2HGDH LAMA1 LAMB1 LARGE1 LETM1 LIG3 LIPT2 LMNB1 LMX1B LONP1 LYRM7 MARS2 MEF2C MLC1 MMACHC MORC2 MPLKIP MPV17 MRPS22 MT-ND1 MT-ND2 MT-ND3 MT-TN MT-TS1 MTHFR NAXE NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD2 NFE2L2 NFU1 NMNAT1 NOTCH1 NOTCH2NLC NOTCH3 NRCAM NRROS NSD2 NUBPL OCRL ODC1 OGDHL OPA1 PAK1 PC PDHA1 PDHB PDHX PLAA PMPCB POLG POMT1 POMT2 POT1 PPFIBP1 PRNP PRORP PRR12 PSAP PUF60 RAB3GAP2 RAC1 RBPJ RFWD3 RNASET2 RNF113A RNU7-1 RPIA RPL10 RRM2B RTTN SAMHD1 SCN4A SCP2 SDHA SDHAF1 SELENOI SEPSECS SHANK3 SNORD118 SON SPATA5L1 SPG11 SPG21 SSR4 STRADA STXBP1 SUCLG1 SUGCT SUMF1 SURF1 TARS1 TBCK TET3 TIMMDC1 TMEM126B TMEM222 TMEM70 TPRKB TREM2 TREX1 TRMT1 TRPM3 TSEN54 TTC5 TYMP TYROBP UBA1 UQCC3 USP7 VPS11 WARS1 WARS2 YME1L1 HP_LEUKONYCHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKONYCHIA ABCA12 ATP2A2 CAST DSC3 DSP GJA1 GJB2 KANK2 KIF11 PEX1 PEX6 PLCD1 TRPS1 HP_LEUKOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOPENIA ADA2 ADH5 AK2 ARHGAP31 ATP6AP1 BANK1 BCOR BLK BLOC1S6 BRCA1 BRCA2 BRIP1 BTNL2 C4A C4B CA2 CLPB CR2 CTLA4 DDX41 DKC1 DLL4 DNAJC21 DNASE1 DOCK6 EFL1 EOGT EPG5 ERCC4 ERCC6L2 ETS1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FCGR2A FCGR2B FCGR3B FIP1L1 FOCAD G6PC3 GATA1 GBA1 HEATR3 HLA-DRB1 HMGCL IGHG1 IL10 IRAK1 IRF2BP2 IRF5 ISCU ITGAM ITK IVD JAZF1 KIAA0319L LIPA LYST MAD2L2 MECP2 MMUT MYSM1 NABP1 NAE1 NOTCH1 NPM1 NUMA1 OTUD5 PALB2 PDCD1 PGM3 PIGA PML PRF1 PRKAR1A PTPN22 PXK RAC2 RAD51 RAD51C RARA RBPJ RFWD3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 SAMD9 SARS2 SASH3 SAT1 SBDS SCARB2 SLC46A1 SLC7A7 SLF2 SLX4 SPP1 SRP54 STAT3 STAT4 STAT5B STING1 TBL1XR1 TBXAS1 TERC TERT TGFB1 TINF2 TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 TRNT1 TSR2 UBE2L3 UBE2T UROS USB1 VPS13B VPS33A VPS45 XRCC2 ZBTB16 ZNF699 HP_LEWY_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEWY_BODIES ADH1C ATXN2 ATXN8OS C19orf12 CHMP2B DNAJC13 EIF4G1 FBXO7 GBA1 GIGYF2 GLUD2 GRN LRRK2 MAPT MT-TT NR4A2 PLA2G6 POLG PRKN PSEN1 RAB39B SNCA SNCAIP SNCB TBP TIA1 TMEM106B TREM2 VCP VPS13C VPS35 HP_LICHENIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LICHENIFICATION ANGPT2 CARD14 CD28 COL7A1 CSTA CTLA4 FLT4 GJC2 HLA-DRA KRT10 LBR NTRK1 OSMR PIEZO1 TNFRSF1B HP_LIMBAL_DERMOID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_DERMOID AKT1 DACT1 FGFR1 KRAS PTEN SALL1 SF3B2 HP_LIMBAL_STEM_CELL_DEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_STEM_CELL_DEFICIENCY DDR2 FGF10 FGFR2 FGFR3 GJB2 GJB6 NLRP1 PAX6 HP_LIMB_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_ATAXIA ABCD1 AFG3L2 ANO10 APTX ATN1 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8OS BCL11A BEAN1 CAPN1 CERS1 CLCN2 COQ2 COX6B1 CP CSTB CWF19L1 CXCR4 CYP7B1 EEF2 ELOVL4 ELOVL5 FAT2 FGF12 FGF14 FXN GBA1 GJB1 GRID2 ITPR1 JAM2 KCNC3 KCND3 MAN2B1 MME MPZ MSTO1 MTPAP NEFL NKX6-2 NOP56 PDYN PEX10 PLD3 PMP22 PMPCA POLG PRDX3 PRICKLE1 PRKCG PRNP RFC1 RTN2 RUBCN SCARB2 SCN1B SCYL1 SDHA SETX SIL1 SLC30A9 SLC9A1 SPTBN2 SQSTM1 STUB1 SYNE1 SYT14 TBC1D23 TBC1D24 TBP TGM6 TMEM240 TPP1 TTBK2 TTC19 TTR UBA5 UBAP1 VAMP1 VPS13D VPS41 VRK1 WASHC5 WWOX XRCC1 HP_LIMB_DYSMETRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSMETRIA CYP7B1 DAB1 GBA2 GRM1 KCNC3 NF1 PDGFB PDGFRB POLG PPP2R2B RNASEH1 RRM2B SLC20A2 WASHC5 HP_LIMB_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSTONIA AARS1 ACTB AFG3L2 ALS2 ANO3 AOPEP ARX ATP1A3 ATP7B BSCL2 CDON CKAP2L COL4A1 COL6A3 COX20 CYB5A CYB5R3 DDC DISP1 DLAT DLL1 DTYMK EIF2AK2 FGF8 FGFR1 FITM2 FOXH1 FTL FUS GAS1 GCDH GCH1 GFM2 GLI2 GNAL GNB1 HPCA IMPDH2 JAM2 KMT2B MAPT MECR NKX6-2 NODAL NR4A2 PANK2 PARK7 PLCH1 PNPT1 PRKRA PTCH1 SCO2 SHH SIGMAR1 SIX3 SLC18A2 SLC35B2 SLC39A14 SLC6A3 SMC1A SPATA5 SPG11 SPTLC1 STAG2 STIL SYNE1 TAF1 TDGF1 TGIF1 TH THAP1 TSPOAP1 TUBB4A UBE3C VPS11 VPS13A VPS13C VPS16 VPS37A WARS2 YIF1B ZIC2 HP_LIMB_FASCICULATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_FASCICULATIONS ATXN10 HINT1 HSPB1 SMN1 SMN2 TFG TTC19 VCP HP_LIMB_GIRDLE_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_ATROPHY ACTA1 ACTB ANO5 CAPN3 CRPPA DAG1 DES DGUOK DPM3 EMD FHL1 FKRP FKTN FRG1 GNE GYG1 HNRNPA1 HNRNPDL LMNA MORC2 MYH7 POGLUT1 POMT1 POMT2 SGCA SGCB SMN1 SMN2 SYNE1 SYNE2 TMEM43 TPM3 TRAPPC11 TRIM32 TRPV4 UNC45B VCP HP_LIMB_GIRDLE_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS ABHD5 ACTA1 AGRN AK9 ALG14 ALG2 ANO5 BICD2 BVES CFL2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DAG1 DGUOK DNA2 DNAJB6 DOK7 DPAGT1 DPM3 DYSF FDX2 FKRP FLNC FRG1 GALC GDAP1 GFPT1 GMPPB GNE GYG1 HACD1 HNRNPDL ITGA7 KLHL41 LARGE1 LDB3 LMNA LMOD3 LRIF1 LRP4 MAP3K20 MATR3 MORC2 MT-TE MTAP MUSK MYH7 MYL2 MYO9A MYOT NEB OPA1 PHKA1 PHKB PLEC PLIN4 PNPLA2 POLG POLG2 POMK POMT1 POMT2 PSAP RAPSN RRM2B RYR1 SCN4A SELENON SGCA SGCB SLC18A3 SLC25A1 SLC25A4 SLC5A7 SMCHD1 SMN1 SMN2 SNAP25 SYT2 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TTN TWNK VAMP1 VCP HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY ACTA1 ANO5 CRPPA DAG1 DPM3 EMD FHL1 HNRNPA1 HNRNPDL LMNA POGLUT1 POMT2 SGCA SYNE1 SYNE2 TMEM43 TRAPPC11 HP_LIMB_HYPERTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_HYPERTONIA AARS1 ACTL6B ADCY5 ADGRG1 AFG3L2 ALDH18A1 ALG11 AP3B2 AP4M1 ARSI ARV1 ASNS ASXL1 ASXL2 ATL1 ATP1A2 ATP1A3 ATP6V1A ATRX BRAT1 BRF1 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMSAP1 CDC42BPB CDK19 CELF2 CLDN11 CLP1 CLTC CNKSR2 COG4 CYFIP2 DALRD3 DDC DHDDS DHPS DNAJC12 DNAJC6 DNM1 DOCK6 DPH5 EBP EEF1A2 ELOVL4 EMC1 ERCC1 ERCC6 ERCC8 FA2H FAR1 FBXO28 FGF12 FGF13 FRMD4A FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GCH1 GDAP2 GFM2 GNB1 GPHN GRIK2 GRIN2D GRM7 H4C5 HCN1 HK1 IFIH1 KAT6A KATNB1 KCNA2 KCNB1 KDM1A KDM5C KIDINS220 KIF5A KIFBP LBR MED11 MINPP1 MTPAP MTRR NCAPD3 NDUFA9 NDUFC2 NECAP1 NTRK2 NUS1 OSTM1 PACS2 PARS2 PCCA PCCB PI4KA PIGA PIGP PLAA PNPT1 POLR3A PPP3CA PRDM13 PRPS1 PTS PYCR2 RARS1 RHOBTB2 RNU7-1 SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SEPSECS SLC13A5 SLC16A2 SLC1A2 SLC25A19 SLC30A9 SLC31A1 SLC33A1 SLC35C1 SLC38A3 SLC39A14 SLC6A3 SMG9 SPATA5 SPG7 SPR SRPX2 SYNGAP1 SYNJ1 SZT2 TARS2 TRAK1 TSEN15 TSEN2 TSEN34 TSEN54 UBA5 UBTF UFC1 UFSP2 USP8 VPS37A WARS2 WDR48 WWOX YWHAG HP_LIMB_JOINT_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_JOINT_CONTRACTURE ABCC8 ABCC9 ABCD1 ABHD12 ACTA1 ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ADGRG6 ALAD ALDH18A1 ALG14 ALG2 ALG3 ALS2 ALX1 ALX3 AMER1 ANKLE2 ANO5 ANTXR2 APC2 ARID1B ARPC4 ARX ASXL1 ASXL3 ATP5F1D ATP6V1E1 ATR AUTS2 B3GALT6 B3GAT3 BAG3 BCAS3 BCOR BCR BICD2 BIN1 BRF1 C18orf32 C19orf12 CADM3 CAMLG CANT1 CAPN3 CASZ1 CAV1 CCBE1 CCDC22 CCN2 CCN6 CCR6 CDC45 CDC6 CDH3 CDT1 CFL2 CHRNB1 CHRNG CHST3 CLCF1 CNTN1 CNTNAP1 COG5 COL11A1 COL11A2 COL12A1 COL17A1 COL1A1 COL25A1 COL2A1 COL6A1 COL6A2 COL6A3 COL7A1 COX11 CPT2 CRKL CRLF1 CRPPA CSGALNACT1 CTCF CTDP1 CUL4B DAG1 DDHD2 DDR2 DHCR24 DHODH DHX16 DLK1 DLL3 DMD DOK7 DPAGT1 DPM1 DSP DVL1 DVL3 DYRK1A ECE1 ECEL1 EED EFNB1 EIF5A EMD EMG1 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ESCO2 EXTL3 EZH2 F8 FAT4 FBN1 FBN2 FBXO28 FBXW11 FDFT1 FERMT1 FGD1 FGFR1 FGFR3 FHL1 FIG4 FKBP10 FKRP FKTN FLNA FLVCR1 FUS FZD2 GABRD GARS1 GCK GDAP1 GDF5 GFM2 GFPT1 GJA1 GJB1 GJB2 GJB6 GLDN GLI3 GMNN GMPPB GNB2 GNPTAB GNS GON7 GPC3 GPC4 GPKOW GRIN1 H4C9 HACD1 HES7 HEXB HINT1 HK1 HLA-DRB1 HNRNPA1 HOXD13 HRAS HS2ST1 HSPB1 HSPG2 IDS IDUA IGF2 IGHMBP2 IKBKG IL6ST INF2 INS IPO8 IRF5 ITGA7 ITGB4 JAG2 JARID2 JUP KAT6B KCNAB2 KCNJ11 KCNK9 KDM5B KDM5C KIAA0319L KIF21A KIF22 KIF5A KLHL9 KMT2A KMT2B KRT1 KRT14 KRT16 KRT9 KY L1CAM LAGE3 LAMA2 LAMB3 LARGE1 LBR LFNG LGI4 LIFR LMBR1 LMBRD2 LMNA LMX1B LUZP1 MAFB MAP3K20 MAP3K7 MAPK1 MARS1 MBTPS2 MECP2 MECR MED11 MED12 MED25 MEG3 MEGF10 MEGF8 MESP2 MKS1 MMP1 MMP2 MMP23B MORC2 MT-TE MUSK MYBPC1 MYH3 MYL1 MYL11 MYL2 MYO9A MYOD1 MYOT NAA10 NALCN NDRG1 NEB NEDD4L NEFL NFATC2 NGLY1 NIPBL NLRP3 NOD2 NOG NSD1 NSUN2 NT5C2 NUP107 NUP133 NUP88 NXN OCRL OPA1 ORAI1 ORC1 ORC4 ORC6 OSGEP OTUD6B P4HTM PAX3 PDGFRB PDPN PDX1 PDXK PEX1 PEX5 PEX6 PHF6 PHGDH PI4KA PIEZO2 PIGA PIGL PIGN PIGY PIK3C2A PIK3R2 PITX1 PLEC PLEKHG5 PLOD1 PLOD2 PLOD3 PMP22 PNPT1 POLR3A POLR3GL POMT1 POR PORCN PPP2R5D PQBP1 PRDM16 PRG4 PRKCZ PSAT1 PSMB8 PSTPIP1 PTDSS1 PTH1R PTRH2 PYCR1 PYROXD1 RAB23 RAB3GAP1 RAPSN RARS2 RBM28 REEP1 RERE RIPPLY2 RMRP RNU4ATAC ROR2 RPL10 RSPO2 RTL1 RTTN RYR1 RYR3 SCARF2 SCN4A SCYL2 SDHA SDHAF1 SDHB SDHD SELENON SEPSECS SETD2 SGCA SGCG SH3PXD2B SHH SIGMAR1 SIK3 SIN3A SKI SLC10A7 SLC12A6 SLC18A3 SLC1A4 SLC25A19 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SLC39A14 SLC39A8 SLC6A9 SMAD3 SMARCAD1 SMC1A SMG9 SMOC1 SNAP25 SNRPB SOX9 SPEG SPEN SPG11 SPRTN SPTBN4 SPTLC1 SRD5A3 STAT3 SUZ12 SVIL SYNE1 SYNE2 SYT2 TBC1D2B TBR1 TBX15 TBX2 TBX3 TCTN3 TDO2 TELO2 TFAP2A TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMEM218 TMEM222 TMEM43 TMEM70 TNNI2 TNNT1 TNNT3 TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPRKB TRIM2 TRPS1 TRPV4 TTN TUBA1A TUBB3 TWIST2 UBA1 UBE4B UFC1 UNC80 UPF3B UROS VARS1 WDR26 WDR4 WDR73 WNT5A WNT7A XYLT1 YRDC ZBTB20 ZC4H2 ZDHHC9 ZMPSTE24 ZNF407 HP_LIMB_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MUSCLE_WEAKNESS AARS1 ABCD1 ACOX1 ACTA1 ACTN2 ADAR ADSS1 AFG3L2 AGRN AIFM1 AK9 AKT1 ALAD ALDH18A1 AMPD1 AMPD3 ANO5 ANXA11 AP5Z1 AR ASAH1 ATL1 ATL3 ATP1A1 ATP5MC3 ATP7B B4GALNT1 BAG3 BAP1 BICD2 BIN1 BSCL2 BTD BVES CACNA1S CADM3 CAPN1 CAPN3 CAV1 CCND1 CCNF CD59 CFL2 CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COA7 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ COX20 COX6A1 CPOX CPT1C CRPPA CRYAB CYP27A1 CYP7B1 DCTN1 DDHD1 DDHD2 DES DGUOK DHTKD1 DMD DMXL2 DNAJB2 DNM2 DNMT3B DOK7 DSTYK DYM DYNC1H1 DYSF EGR2 EIF2B2 EIF2B3 EMD EMILIN1 ERGIC1 ERLIN2 EXTL3 FA2H FARS2 FBLN5 FBXO38 FDX2 FGD4 FHL1 FKTN FLI1 FLNC GAA GABRA3 GALC GAN GARS1 GBA2 GBF1 GDAP1 GFAP GIPC1 GJB1 GMPPB GNB1 GNB2 GNB4 GNE GYG1 HACD1 HADHA HADHB HARS1 HEXB HINT1 HK1 HMBS HNRNPA1 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HYCC1 IBA57 IGHMBP2 INF2 ITGA7 JAG1 JAG2 KARS1 KBTBD13 KCNJ10 KCNJ18 KIF1A KIF1B KIF5A KLHL41 KPNA3 KY L1CAM LAMA2 LAMP2 LBR LDB3 LIG3 LIPE LMNA LMOD3 LPIN1 LRP12 LRP4 LRSAM1 LYST MAP3K20 MAPT MARS1 MATR3 MB MCM3AP MEGF10 MFN2 MLIP MME MORC2 MPV17 MPZ MRPS2 MT-ATP6 MT-CO1 MT-CO3 MTAP MTHFR MTMR14 MTRFR MTTP MUSK MYF6 MYH14 MYH7 MYL2 MYO9A MYOT MYPN NDRG1 NEB NEFH NEFL NF1 NF2 NIPA1 NOTCH2NLC NUP54 NUP62 OBSCN ORAI1 PABPN1 PDGFB PDK3 PDXK PEX7 PHKA1 PHYH PI4KA PIEZO2 PIGN PIK3CA PLEC PLIN4 PLOD1 PLP1 PMP2 PMP22 PNKP PNPLA2 PNPLA6 POGLUT1 POLG POLG2 POMT1 POPDC3 POU3F4 PPOX PRNP PRORP PRX PYROXD1 RAB7A RAI1 RAPSN RASA1 REEP1 RILPL1 RNASEH1 RNF170 RRM2B RTN2 RYR1 SACS SARDH SBF1 SBF2 SCN4A SCO2 SCYL1 SCYL2 SDHA SECISBP2 SELENON SGCG SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC25A21 SLC25A4 SLC33A1 SLC52A2 SLC5A6 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMN1 SMN2 SMO SMPX SNAP25 SORD SPART SPAST SPG11 SPG21 SPG7 SPTLC1 SPTLC2 SQSTM1 SUFU SYNE1 SYNE2 SYT2 TBCE TCAP TDP1 TERT TFG TIA1 TK2 TMEM43 TNNT1 TPM2 TPM3 TRAF7 TRIM32 TRIP4 TRPV4 TTN TWNK TYMP UBAP1 VAMP1 VAPB VCP VHL VMA21 VPS13A VPS13D VWA1 WARS1 WASHC5 YARS1 ZFYVE26 ZFYVE27 HP_LIMB_MYOCLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MYOCLONUS ABCD1 ASAH1 CACNA1H CDKL5 CPLX1 DRD2 GABBR2 GABRA1 GABRB3 GABRG2 JRK KCNQ2 KCNQ3 KCTD17 KCTD7 MAPT MECP2 NOP56 NTNG1 PRDX3 PRNP PRRT2 SCN2A SCN8A SGCE SLC2A1 SMC1A TBC1D24 TOR1A HP_LIMB_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_PAIN ACP5 ALDH18A1 ATL1 ATL3 B2M BSCL2 CCND1 COL1A1 COL2A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COMP CPOX ERLIN1 FAR1 FLI1 FN1 GJB2 GJB6 HEPHL1 HMBS HTRA1 HYAL1 IDUA KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LEMD3 LMX1B MAFB MATN3 MFN2 MME MMP13 MT-ATP6 MT-TK NAGLU NLRP12 PRKRA RASA1 SLCO2A1 SPG7 SPTLC1 SPTLC2 TGFB1 TONSL TRAPPC2 TREX1 VHL HP_LIMB_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_TREMOR ANO3 CACNA1G CARS2 CDC42BPB CIZ1 CLN5 COL6A3 DDC GRIA3 ITPA ITPR1 LMNB1 MPZ PEX16 PGAP1 PLA2G6 PMP22 SLC12A6 SNRPN TUBB4A UBE3A HP_LIMB_UNDERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_UNDERGROWTH ACAN ACP5 ACTB ADAMTS2 ADNP AFF3 AFF4 AGPS ALG12 ALG9 ALPL ANTXR2 APC ARCN1 ARL6IP6 ASXL1 ATR B2M B3GAT3 B3GLCT B9D1 BMPR1B BPNT2 BPTF BRCA1 BRCA2 BRD4 BRIP1 CCDC8 CCNQ CD96 CDKN1C CEP120 CEP57 CFAP410 CHD7 CHN1 CHST3 CHUK CILK1 CLPB CLTCL1 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREB3L1 CRTAP CSGALNACT1 CSPP1 CTSK CUL7 DDR2 DDRGK1 DHCR24 DHCR7 DHODH DLK1 DONSON DPM1 DPYD DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EFNB1 EIF4A3 ERCC4 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR1 FGFR2 FGFR3 FLNA FLNB FN1 FUT8 FZD2 GAD1 GDF5 GHR GLB1 GLI1 GLI3 GLUL GNA11 GNAS GNPAT GPC6 GPX4 GSC HDAC6 HDAC8 HHAT HRAS HSPG2 HYLS1 IDH1 IDH2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH IL6ST INPPL1 JAG1 KIAA0586 KIAA0753 KIF15 KIF7 KMT2A KYNU LAMA5 LBR LIFR LONP1 LRP4 LTBP3 MAB21L2 MAD2L2 MAFB MATN3 MBTPS2 MEG3 MMP13 MMP9 MTOR MYSM1 NBAS NEK1 NGLY1 NIN NIPBL NOG NPR2 NXN OBSL1 PALB2 PAM16 PAPSS2 PCNT PCYT1A PDE4D PDHA1 PEX7 PHGDH PIGT PIGY PKDCC PLCB3 POC1A POLE PPIB PRKACA PRKACB PRKAR1A PRKG2 PSMD12 PTH1R PUF60 RAC1 RAD21 RAD51 RAD51C RBM10 RBM8A RECQL4 RFWD3 RIPK4 RMRP RNU4ATAC ROR2 RPL26 RPS19 RTL1 SALL4 SCARF2 SERPINH1 SF3B4 SHOX SIK3 SLC26A2 SLC35C1 SLC35D1 SLC39A8 SLX4 SMC1A SMC3 SMO TAPT1 TBCK TBX15 TBX3 TBX5 TCTN3 TONSL TRIP11 TRPV4 TTC21B UBE2T VPS35L WDR19 WDR35 WNT5A WNT7A XRCC2 XRCC4 ZNF699 HP_LIMITATION_OF_JOINT_MOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_JOINT_MOBILITY ABCA12 ABCC9 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTSL2 ADAMTSL4 ADAT3 ADCY6 ADGRG6 ADGRV1 AGA AKT1 ALDH18A1 ALDH3A2 ALG1 ALOX12B ALOXE3 ANKH ANKRD55 ANO5 ANTXR2 APC ARSB ASAH1 ASPA ASPN ASXL1 ATAD1 ATP7A ATR ATRX B3GAT3 B3GLCT BANF1 BAZ1B BCL7B BGN BHLHA9 BMP1 BMP6 BMPR1B BPNT2 BRD4 BUD23 CAPN3 CASZ1 CBS CCN6 CD244 CD247 CD96 CHMP1A CHRNG CHST11 CHST3 CIITA CISD2 CKAP2L CLCF1 CLIP2 CNTNAP1 COL11A2 COL12A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL6A1 COL6A2 COL6A3 COL9A3 COLEC10 COLEC11 COLQ COMP CPT2 CRLF1 CSGALNACT1 CTNNB1 DDR2 DEAF1 DKK1 DMD DNAJC30 DPYSL5 DST DVL1 DYM DYSF ECEL1 EED EIF4H ELN EMD EMG1 ENPP1 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN2 ESCO2 EXT1 EXT2 EXTL3 EZH2 F8 FBN1 FBN2 FBXO28 FDFT1 FGF9 FGFR1 FGFR2 FGFR3 FHL1 FKBP10 FKBP6 FLII FLNA FLNB FLNC FN1 FUZ FZD2 GABRA1 GABRD GABRG2 GBE1 GDAP1 GDF5 GJB2 GLB1 GLDN GLE1 GLRA1 GLRB GNAI3 GNAS GNB1 GNB2 GNE GNPTAB GNPTG GNS GPC6 GPHN GPKOW GSC GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUSB HACD1 HCN1 HDAC8 HERC1 HFE HGD HGSNAT HLA-B HLA-DRB1 HNRNPDL HOXA11 HPGD HRAS HS2ST1 HSPG2 IDH1 IDH2 IDS IDUA IFITM5 IL10 IL2RA IL2RB IL6ST INPPL1 IQSEC2 IRF6 ITCH ITGA7 JAG2 KCNAB2 KCNK9 KIF1A KIF22 KRT1 KRT83 KY L1CAM LAMA2 LAMB2 LARGE1 LBR LEMD3 LGI4 LIFR LIMK1 LMBR1 LMNA LMX1B LSS LTBP2 LTBP3 LUZP1 MACROH2A1 MAF MAFB MAN2B1 MAP3K20 MAP3K7 MAPK1 MASP1 MATN3 MBTPS2 MECOM MECP2 MED12 MET METTL27 MFN2 MLXIPL MMP13 MMP2 MMP23B MMP9 MTX2 MUSK MVK MYBPC1 MYH3 MYH8 MYL1 MYL11 MYL2 MYOT NAE1 NAGLU NALCN NCF1 NDE1 NDUFS3 NEK9 NFIX NFKBIL1 NIPA1 NIPBL NOD2 NOG NOTCH3 NPR2 NSD1 OCA2 OCRL OPA3 P4HA2 P4HTM PAX3 PCDH19 PCNT PCYT1A PDGFRB PDPN PERP PHEX PIEZO2 PIGA PIGY PIK3C2A PITX1 PKDCC PLA2G6 PLOD1 PLOD2 PLOD3 PLP1 PNKD POMT1 POR PPP1R12A PPP2R3C PRDM16 PRG4 PRKCZ PRRT2 PSMB8 PSTPIP1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPN2 PTPN22 PYCR1 RAB18 RAB33B RAB3GAP1 RAB3GAP2 RAD21 RAI1 RECQL4 RERE RFC2 RMRP RNU4ATAC RSPO2 RSPRY1 SALL4 SCARF2 SCN1A SCN1B SCN2A SCN4A SCN9A SCUBE3 SCYL2 SELENON SETBP1 SF3B4 SFRP4 SGCA SGSH SH3PXD2B SHH SHOX SKI SLC22A4 SLC25A19 SLC25A46 SLC26A2 SLC29A3 SLC39A8 SLC6A5 SLC6A9 SLCO2A1 SMAD4 SMAD6 SMARCB1 SMC1A SMC3 SNRPB SPEN SPRED2 SPRTN STAG1 STAT4 STING1 STX1A STX1B STXBP1 SUMF1 SUZ12 SVIL SYNE1 SYNE2 SYT2 TBC1D20 TBL2 TBX15 TBX3 TBX4 TBX5 TDO2 TFAP2A TFE3 TGDS TGFB1 TGM1 TMEM222 TMEM270 TMEM43 TNFRSF11B TNNI2 TNNT1 TNNT3 TONSL TOR1A TPM2 TPM3 TRAPPC2 TREM2 TRPV3 TRPV4 TTN TYROBP UBA1 UBE3A UBE4B UNC80 USB1 USP9X VANGL1 VAPB VCP VPS33A VPS37D WFS1 WNT5A WNT7A WRN ZC4H2 ZMPSTE24 ZNHIT3 HP_LIMITATION_OF_KNEE_MOBILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_KNEE_MOBILITY ADGRV1 ASAH1 ATP7A BMP1 COL2A1 COL9A3 CSGALNACT1 DPYSL5 DYM DYSF ECEL1 EXT1 EXT2 EZH2 FBN2 FLNA FLNC GABRA1 GABRD GABRG2 GPC6 HCN1 HGD MAP3K7 MYOT PCDH19 SCN1A SCN1B SCN2A SCN9A STX1B TOR1A VCP HP_LIMITATION_OF_MOVEMENT_AT_ANKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_MOVEMENT_AT_ANKLES FLNA LMNA MAP3K7 NIPA1 OCA2 UBE3A ZMPSTE24 HP_LIMITATION_OF_NECK_MOTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_NECK_MOTION ACVR1 ATP1A2 CACNA1A COL2A1 COL6A2 DKK1 ERLIN2 FHL1 GABRA1 GABRG2 GDF6 IRF3 LMNA MEOX1 MYH3 MYH7 MYL11 NDE1 NDUFS3 NEK9 NOG PCDH19 PRRT2 SCN1A SCN1B SCN2A SCN9A SELENON TBK1 TICAM1 TLR3 TRAF3 TTN UNC93B1 HP_LIMITED_ELBOW_EXTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_EXTENSION ABCC9 ATP7A BGN BPNT2 CLCF1 COL27A1 COL2A1 COL9A3 COMP CRLF1 CSGALNACT1 DVL1 DYM ESCO2 EZH2 FBN1 FBN2 FGFR2 FGFR3 FLNA FLNB FZD2 GNB1 GPC6 HDAC8 ITCH KCNK9 LBR LMX1B MAPK1 MATN3 MED12 MMP13 NIPBL NPR2 OPA3 PCNT POR PPP2R3C RAB33B RMRP RNU4ATAC RSPRY1 SF3B4 SFRP4 SPRED2 STAG1 TBX5 TDO2 TFE3 TONSL WNT5A HP_LIMITED_ELBOW_FLEXION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_FLEXION ASXL1 CHST3 FZD2 GPC6 KCNK9 LMX1B MYOT PTH1R SLC26A2 STXBP1 HP_LIMITED_ELBOW_MOVEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_MOVEMENT ABCC9 ACTA1 ALDH18A1 ANO5 ASXL1 ATP7A ATR B3GAT3 B3GLCT BANF1 BGN BPNT2 CAPN3 CHST3 CLCF1 COL12A1 COL25A1 COL27A1 COL2A1 COL6A1 COL6A2 COL6A3 COL9A3 COLEC10 COLEC11 COMP CPT2 CRLF1 CSGALNACT1 DDR2 DMD DVL1 DYM DYSF ECEL1 EMD ERCC1 ERCC6 ERGIC1 ERLIN2 ESCO2 EXTL3 EZH2 FBN1 FBN2 FBXO28 FDFT1 FGFR2 FGFR3 FHL1 FKBP10 FLNA FLNB FZD2 GJB2 GLDN GNB1 GNB2 GNS GPC6 HACD1 HDAC8 HOXA11 HRAS HS2ST1 IFITM5 IL6ST ITCH ITGA7 JAG2 KCNK9 KIF22 KY LAMA2 LARGE1 LBR LGI4 LIFR LMNA LMX1B LTBP3 MAP3K20 MAP3K7 MAPK1 MASP1 MATN3 MECOM MED12 MET MMP13 MYH3 MYL1 MYL11 MYL2 MYOT NALCN NIPBL NPR2 OPA3 P4HTM PCNT PIGA PIGY PIK3C2A PITX1 PLOD1 PLOD2 PLOD3 POR PPP2R3C PSMB8 PSTPIP1 PTDSS1 PTH1R PTPN11 PYCR1 RAB33B RECQL4 RMRP RNU4ATAC RSPO2 RSPRY1 SALL4 SCARF2 SCN4A SCYL2 SELENON SF3B4 SFRP4 SHOX SLC25A46 SLC26A2 SLC29A3 SLC39A8 SLC6A9 SMAD6 SMC1A SMC3 SNRPB SPRED2 SPRTN STAG1 STXBP1 SVIL SYNE1 SYNE2 SYT2 TBX15 TBX3 TBX5 TDO2 TFAP2A TFE3 TMEM222 TMEM43 TONSL TOR1A TPM2 TPM3 TRAPPC2 TRPV4 UBA1 UNC80 WNT5A WNT7A HP_LIMITED_EXTRAOCULAR_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_EXTRAOCULAR_MOVEMENTS CHP1 COL25A1 COLQ HSD17B4 KIF21A LAMB2 NKX6-2 PHOX2A SCO2 SYT2 TUBA1A TUBB2B TUBB3 VAMP1 VMA21 HP_LIMITED_HIP_EXTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_EXTENSION CHST3 COMP DST FGFR3 KY HP_LIMITED_HIP_MOVEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_MOVEMENT CHST3 COL2A1 COMP DST DYSF EXT1 EXT2 FGFR3 GPC6 HGD KY LMNA MATN3 NFIX NIPA1 PIEZO2 PTH1R TNNT1 TPM2 TRPV4 TTN ZMPSTE24 HP_LIMITED_KNEE_EXTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_EXTENSION ADGRV1 ATP7A COL9A3 CSGALNACT1 DPYSL5 DYM EZH2 FBN2 GABRA1 GABRD GABRG2 GPC6 HCN1 PCDH19 SCN1A SCN1B SCN2A SCN9A STX1B HP_LIMITED_KNEE_FLEXION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_FLEXION ECEL1 FLNA FLNC GPC6 VCP HP_LIMITED_NECK_RANGE_OF_MOTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_NECK_RANGE_OF_MOTION GABRA1 GABRG2 GDF6 MEOX1 MYL11 NOG PCDH19 SCN1A SCN1B SCN2A SCN9A HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM COLEC10 COLEC11 HOXA11 IFITM5 LMX1B MASP1 MECOM MET SMAD6 HP_LIMITED_WRIST_MOVEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_WRIST_MOVEMENT COLQ FLNA GDAP1 GNE GNPTAB LAMB2 LMNA LTBP3 MAP3K7 OPA3 PIEZO2 SALL4 SHOX TRAPPC2 ZMPSTE24 HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS KRT16 KRT17 KRT6A KRT6B POMP HP_LINGUAL_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINGUAL_DYSTONIA ATP13A2 GNAL NGLY1 THAP1 VPS13A HP_LIPEMIA_RETINALIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPEMIA_RETINALIS APOC2 G6PC1 GPIHBP1 LPL SLC37A4 HP_LIPOATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOATROPHY ABCC9 ACTB ACTC1 ACTN2 ADAR ANKRD1 BAG3 BAG5 BANF1 CAP2 CLMP COL3A1 CRYAB CSRP3 DES DMD DOLK DSG2 DSP FBN1 FHL2 FKTN FLNA FUCA1 GATAD1 HAND2 IFIH1 JPH2 LAMA4 LDB3 LMNA LMNB2 LMOD2 LSM11 MYBPC3 MYH6 MYH7 MYPN NEXN PDGFRB PIK3CA PIK3R1 PLIN1 PLN POLR3A PPARG PPCS PRDM16 PSEN1 PSEN2 RAF1 RBM20 RBM28 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL3L SAMHD1 SCN5A SDHA SGCD SLC25A24 TAF1A TAFAZZIN TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TREX1 TTN TXNRD2 VCL VEZF1 WRN HP_LIPODYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPODYSTROPHY ABCC9 ACTB ACTC1 ACTN2 ADAR AGPAT2 AKT2 ALB ALG3 ALG9 ANKRD1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT7 BAG3 BAG5 BANF1 BSCL2 CAP2 CAV1 CAVIN1 CIDEC CLMP COL3A1 CRYAB CSRP3 DDOST DES DMD DNASE2 DOLK DPAGT1 DSG2 DSP EMD FBN1 FGFR1 FHL1 FHL2 FKTN FLNA FOS FUCA1 GATAD1 GRM7 HAND2 IFIH1 IGF1R JPH2 KCNJ6 KRAS LAMA4 LDB3 LIPE LMF1 LMNA LMNB2 LMOD2 LSM11 MTX2 MYBPC3 MYH6 MYH7 MYPN NEXN OTULIN PDGFRB PIK3CA PIK3R1 PLIN1 PLN PMM2 POLD1 POLR3A POMP PPARG PPCS PRDM16 PSEN1 PSEN2 PSMB4 PSMB8 PSMB9 PSMG2 RAF1 RBM20 RBM28 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL3L SAMHD1 SCN5A SDHA SGCD SLC25A24 SLC29A3 SPRTN SYNE1 SYNE2 TAF1A TAFAZZIN TCAP TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TREX1 TTN TWIST2 TXNRD2 VCL VEZF1 VPS4A WRN ZMPSTE24 HP_LIPOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOMA AKT1 ALX3 APC CCL2 CDC73 COQ6 FGFR1 FUZ KLLN LZTR1 MAD1L1 MFN2 MSTO1 NF2 PIK3CA PTEN RPL10 SDHB SDHC SDHD SEC23B SMARCB1 TAF1 TBXT USF3 VANGL1 VANGL2 ZSWIM6 HP_LIP_PIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIP_PIT EYA1 GRHL3 IRF6 KDM6A KMT2D MSX1 NECTIN1 OFD1 RIPK4 SIX1 SMO TFAP2A TP63 HP_LISSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LISSENCEPHALY ACTB ACTG1 ADAMTS3 ADGRG1 AKT3 ALG12 ANKLE2 APC2 ARHGAP31 ARX ASPM ATP6V0A2 ATP6V1A ATP6V1E1 ATR B3GALNT2 B4GAT1 BLTP1 CAMSAP1 CASK CCBE1 CCDC88A CDK5 CDK5RAP2 CDK6 CDKL5 CENPE CENPJ CEP135 CEP152 CEP63 CEP85L CIT COL4A1 COPB2 CPT2 CRADD CRPPA CSNK2A1 CTNNA2 CTU2 DAG1 DCHS1 DCX DHCR24 DLK1 DMXL2 DYNC1H1 EML1 ETFA ETFB ETFDH EXOSC5 FAT4 FBXO28 FH FIG4 FKRP FKTN FLI1 FOXG1 FRMD5 FTO GFM2 GMPPB GNAO1 GON7 GPX4 GRIN1 GRM7 HIC1 ISCA1 KAT6B KATNB1 KCNA1 KIF14 KIF2A KIFBP KNL1 LAGE3 LAMA2 LAMB1 LAMC3 LARGE1 LMNB1 MACF1 MCM7 MCPH1 MEG3 METTL5 MFSD2A MLYCD MPDZ MTOR NARS1 NCAPD3 NDE1 NEK1 NEUROD2 NFIX NSDHL NUP107 NUP133 NUP37 OCLN OSGEP PAFAH1B1 PDHB PEX10 PEX13 PEX2 PHC1 PHGDH PI4KA PIDD1 PIGP PIGQ PIK3CA PIK3R2 PNKP POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PRKDC PSAT1 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RELN RMND1 RNU4ATAC RTL1 RTTN RXYLT1 SARS1 SASS6 SCN1B SCN2A SIK1 SLC25A19 SLC25A22 SLC30A9 SLC32A1 SNAP29 SRPX2 STIL STS TAF13 TBC1D20 TBR1 TCTN1 TCTN2 TMTC3 TMX2 TP53RK TP73 TPRKB TRAPPC10 TRAPPC14 TRIM8 TUBA1A TUBB TUBB2B TUBB3 TUBG1 TUBGCP2 TUBGCP6 VAC14 VIPAS39 VLDLR VPS33B WARS1 WDR26 WDR4 WDR62 WDR73 YRDC YWHAE ZNHIT3 HP_LIVEDO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVEDO ACTA2 ADA2 ATR GUCY1A1 MYH11 PDSS1 POLE RECQL STING1 HP_LIVEDO_RETICULARIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVEDO_RETICULARIS ACTA2 ADA2 GUCY1A1 MYH11 PDSS1 RECQL STING1 HP_LIVER_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVER_ABSCESS ABCB4 CTSC CYBA CYBB CYBC1 IGHG2 IGKC IRAK4 NCF1 NCF2 NCF4 PKHD1 HP_LOBAR_HOLOPROSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBAR_HOLOPROSENCEPHALY B9D1 B9D2 CC2D2A CEP290 CNOT1 CSPP1 FGFR1 MKS1 PTCH1 RAD21 RPGRIP1 RPGRIP1L RTTN TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 ZIC2 HP_LOBULATED_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBULATED_TONGUE C2CD3 CEP120 CPLANE1 DDX59 FAM149B1 KIAA0753 KIF7 MEF2C MKS1 OFD1 PDE6D SCNM1 TCTN3 TMEM216 TMEM231 TOPORS HP_LOCALIZED_HIRSUTISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_HIRSUTISM AFF4 ARID1B CKAP2L CPOX CREBBP DLK1 EP300 FLNA GNS MEG3 PEPD PPP1R21 PRMT7 RPL10 RTL1 SLC25A12 TASP1 TBX15 TP63 WASHC4 WNT4 HP_LOCALIZED_OSTEOPOROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_OSTEOPOROSIS BMP15 BNC1 FOXA2 FSHR GLI2 HESX1 HTRA1 LHX4 MRPS22 MSH4 NR5A1 NUP107 OTX2 POLR3H POU1F1 PROP1 PSMC3IP RUNX2 SOX3 SPIDR TRAPPC2 ZSWIM7 HP_LOCALIZED_SKIN_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_SKIN_LESION AAGAB ABCA1 ABCA4 ABCB6 ABCC6 ABCC9 ABCG5 ABCG8 ABL1 ACD ACP5 ACTB ACVR1 ADA2 ADAM10 ADAMTS2 ADAMTSL2 ADAR ADNP AEBP1 AFF3 AGBL5 AHI1 AHR AIP AIRE AK2 AKT1 ALDH18A1 ALG9 ALPL ALX1 ALX3 ALX4 ANAPC1 ANK1 ANKLE2 ANKRD11 ANTXR1 ANTXR2 AP1S3 APC APOA1 APOA2 APOA5 APOB APOC2 APOE AQP5 ARF1 ARFGEF2 ARHGAP31 ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARL6IP6 ARMC5 ARVCF ASAH1 ASXL1 ASXL2 ATIC ATL1 ATL3 ATM ATP2A2 ATP2C1 ATP6V1B2 ATP7A ATRX AUTS2 B2M B3GALT6 B3GLCT B4GALT7 B9D2 BAP1 BAZ1B BBS1 BBS2 BCL2 BCL6 BCL7B BCOR BEST1 BGN BICD2 BLM BLOC1S5 BMS1 BRAF BRCA1 BRCA2 BRF1 BRIP1 BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C1R C1S C4A CA4 CAMK2A CAMK2G CAPN15 CARD14 CARMIL2 CASZ1 CAV1 CBL CC2D2A CCDC22 CCL2 CCN2 CCR1 CCR6 CCT5 CD28 CD96 CDC42 CDH1 CDH11 CDH23 CDH3 CDHR1 CDK10 CDK13 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEP57 CERKL CETP CFAP418 CFTR CHD7 CHN1 CHRNA7 CHRNG CHST14 CHUK CIB1 CITED2 CLCN7 CLDN1 CLEC7A CLIP2 CLPB CLRN1 CLTRN CNGA1 CNGB1 COL12A1 COL14A1 COL17A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COMT COPB1 COX7B CPLX1 CPOX CRB1 CREBBP CRIPT CRX CSTA CTBP1 CTC1 CTCF CTLA4 CTNNB1 CTNND1 CTNND2 CTSC CUL4B CWC27 CYBA CYBB CYBC1 CYLD CYP1B1 CYP26C1 CYP27A1 DACT1 DCHS1 DCLRE1C DDB2 DDIT3 DDR2 DDX11 DEAF1 DHCR24 DHCR7 DHDDS DHPS DHX30 DHX38 DICER1 DIS3L2 DKC1 DLG4 DLL4 DNAJC21 DNAJC30 DOCK6 DOCK8 DPAGT1 DPP9 DPYSL5 DSC3 DSE DSP DST DSTYK DUT DVL1 DVL3 DYRK1A EBP ECM1 EDA EDAR EDARADD EDEM3 EDN1 EDN3 EDNRA EDNRB EED EFTUD2 EGFR EIF2AK3 EIF2AK4 EIF4H ELANE ELN ELOVL4 ENPP1 EOGT EP300 EPB42 EPHB4 EPHX2 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERGIC1 ERMARD ESCO2 EXT2 EXTL3 EYA1 EYS EZH2 F12 FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FAT4 FBN1 FERMT1 FERMT3 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FKBP10 FKBP14 FKBP6 FLCN FLNA FLNB FLT4 FMR1 FN1 FOCAD FRA10AC1 FSCN2 FUS FUZ FZD2 G6PC1 GABRD GALC GATA1 GATA4 GATA5 GATA6 GBA1 GBE1 GDF1 GFI1 GGCX GHR GJA1 GJA5 GJB2 GJB3 GJB4 GJB6 GLA GLMN GLS GNA11 GNA14 GNAI3 GNAQ GNAS GNB2 GORAB GP1BB GPC3 GPC4 GPIHBP1 GPNMB GRB10 GRHL3 GSC GSN GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H1-4 H19 H4C3 H4C5 H4C9 HAVCR2 HBB HCCS HDAC8 HEATR3 HEPACAM HEXB HGSNAT HIC1 HIRA HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMGA2 HNRNPK HNRNPU HOXA13 HPS1 HRAS HSPA9 HSPG2 IARS2 IDH1 IDH2 IDH3A IDH3B IDS IFNG IFNGR1 IFT140 IFT172 IFT88 IGF1 IGF2 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R IL36RN IL6 IL6ST IL7 IMPDH1 IMPG1 IMPG2 INSR IPO8 IRF5 IRF6 IRX5 ITGA6 ITGB2 ITGB4 JAG1 JMJD1C KANSL1 KAT6A KCNAB2 KCNJ2 KCNK9 KCNQ1 KCNQ1OT1 KCTD1 KDF1 KDM5C KDM6A KDM6B KDR KDSR KIAA0319L KIAA1549 KIF11 KIF15 KIF1A KIF1B KIF7 KIT KITLG KIZ KLHL24 KLHL7 KLLN KLRC4 KMT2A KMT2D KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT83 LAMA3 LAMB3 LAMC2 LBR LDHA LDLR LDLRAP1 LEMD3 LETM1 LIFR LIG4 LIMK1 LIPC LIPH LMF1 LMNA LORICRIN LOX LPAR6 LPIN2 LPL LRAT LRP1 LRP5 LSS LTBP2 LTV1 LUZP1 LYST LZTR1 MAD1L1 MAD2L2 MAFB MAK MAN1B1 MAN2C1 MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MASP1 MAX MBTPS2 MC1R MCTP2 MDM2 MED12 MED13L MED25 MEFV MEN1 MERTK METTL27 MGMT MGP MID1 MITF MLH1 MLX MLXIPL MMP1 MMP14 MMP2 MMP23B MPDU1 MPL MPV17 MRAS MSH2 MSH6 MSL3 MSX1 MSX2 MTAP MTOR MVK MYH3 MYOC MYSM1 NAA10 NADSYN1 NAGA NAXE NBN NCAPG2 NCF1 NCF2 NCF4 NCSTN NDUFB11 NECTIN1 NEDD4L NEK2 NEK9 NELFA NF1 NF2 NFIX NFKB1 NGF NHP2 NKX2-5 NKX2-6 NLRP1 NLRP3 NOD2 NONO NOP10 NOTCH1 NOTCH2 NOTCH3 NPHP3 NPM1 NR2E3 NR3C1 NRAS NRL NSD2 NSDHL NSMCE2 NSUN2 NTRK1 NXN OCA2 OCRL ODC1 OFD1 ORC1 OTUD6B OTULIN P4HA2 PAFAH1B1 PALB2 PARN PAX1 PAX3 PCARE PCGF2 PCNT PCSK9 PDE11A PDE4D PDE6A PDE6B PDE6G PDGFB PDGFRB PDPN PEPD PERP PGM3 PHIP PIGA PIGG PIGL PIGN PIGS PIK3CA PIK3R1 PLAG1 PLCB4 PLEC PLOD1 PLP1 PLXND1 PMS2 PMVK POFUT1 POGLUT1 POLA1 POLD1 POLE POLH POLR1B POLR1C POLR1D POLR3A POMGNT1 POMP PORCN POT1 PPARG PPOX PPP1CB PPP1R17 PRCD PRDM16 PRKAR1A PRKCD PRKCZ PRKD1 PRMT7 PROC PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRR12 PRTN3 PSAP PSENEN PSMB8 PSMD12 PSTPIP1 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTPN11 PTPN22 PUF60 PUS3 PYCR1 RAB23 RAD51 RAD51C RAF1 RASA1 RASA2 RBBP8 RBCK1 RBM28 RBM8A RBP3 RBPJ RDH12 RECQL RECQL4 REEP6 RERE RET RETREG1 REV3L RFC2 RFWD3 RFX7 RGR RHO RHOA RIPK4 RIT1 RLBP1 RMRP ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RRAS RRAS2 RREB1 RTEL1 SAG SALL1 SALL4 SASH1 SATB2 SBF2 SCAPER SCARF2 SCN9A SCYL2 SDHB SDHC SDHD SEC23B SEC24C SEMA3E SEMA4A SEMA5A SET SETBP1 SETD5 SF3B2 SF3B4 SH3PXD2B SHANK3 SHOC2 SIX1 SIX5 SKI SKIC2 SKIC3 SLC17A9 SLC25A24 SLC26A2 SLC29A3 SLC2A10 SLC35C1 SLC37A4 SLC39A13 SLC39A4 SLC45A2 SLC4A1 SLC6A19 SLC7A14 SLC9A1 SLF2 SLURP1 SLX4 SMAD2 SMAD3 SMARCA2 SMARCAD1 SMARCAL1 SMC3 SMC5 SMG9 SMO SMOC1 SMPD1 SNAI2 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX18 SOX9 SPATA7 SPECC1L SPEN SPOP SPRED1 SPRED2 SPTA1 SPTB SPTBN1 SPTLC1 SPTLC2 SRP19 SRP54 ST3GAL5 STAG2 STAMBP STAT3 STAT4 STEAP3 STK11 STX1A SUFU SUGCT SUZ12 SVBP SYK SYT1 TAF1 TAP1 TAP2 TAPBP TASP1 TBL2 TBX1 TBX4 TBXT TCF4 TCIRG1 TCOF1 TEK TERC TERF2IP TERT TFAP2A TGFB2 TGFB3 TGFBR1 TGFBR2 TGM5 THPO TINF2 TLR4 TMC6 TMC8 TMCO1 TMEM127 TMEM260 TMEM270 TMTC3 TNFRSF11A TNFRSF11B TNFRSF1A TNFRSF1B TNXB TOP3A TOPORS TP53 TP53RK TP63 TRAF3IP2 TRAF6 TREX1 TRIM37 TRIP13 TRPM3 TRPM4 TRPV3 TSC1 TSC2 TTC8 TTPA TUB TUBB TULP1 TWIST2 TXNL4A TYMS TYR TYRP1 UBA1 UBA2 UBAC2 UBE2A UBE2T UBE3B UBE4B UBR1 UFD1 UROD UROS USB1 USF3 USH2A USP48 USP8 USP9X VANGL1 VANGL2 VHL VPS13B VPS35L VPS37D WAS WASF1 WASHC5 WBP11 WDR1 WIPF1 WLS WNK1 WNT10A WNT5A WRAP53 WRN XPA XPC XRCC2 XYLT1 XYLT2 YWHAE ZFHX4 ZFPM2 ZIC3 ZMPSTE24 ZNF408 ZNF462 ZNF469 ZNF513 ZNF668 ZNF699 ZNRF3 ZSWIM6 HP_LONG_CLAVICLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_CLAVICLES CHRNG COL11A1 CSPP1 DLK1 FLNB HPGD KIAA0586 LBR MEG3 PCNT RNU4ATAC RTL1 SETBP1 TBCE TBX15 HP_LONG_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EAR DPYD EED EIF5A KDM3B STT3A WNT7A HP_LONG_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EYELASHES ABCC9 AFF4 AP3B2 ARHGEF2 ARID1A ARID1B ASXL2 ASXL3 ATP6V1B2 BICRA BMP1 BRCA1 BRD4 CAMKMT CAMTA1 CCDC47 CDC42BPB CHD1 CHMP1A CLP1 CNOT2 COL25A1 COX5A CREBBP CSF1R CTCF CTDP1 DDB1 DENND5A DOCK7 DPYD DVL1 DVL3 EGFR EP300 EXOC8 FBN1 FBXO11 FGF5 FRMD4A FZD2 GJA5 GJA8 GNB2 H4C5 HDAC8 HECTD4 HID1 HPDL HSPG2 KCNH1 KCNJ8 KCNK4 KCNK9 KCNMA1 KCNN3 KDM6A KMT2A KMT2D LTBP1 LTBP3 MAB21L1 MAB21L2 MADD MAF MAN1B1 MBD5 MED27 MGAT2 MOGS NAA10 NIPBL NOTCH2 NRCAM NXN ORC1 OTUD6B PACS1 PGM2L1 PNPLA6 PPM1B PREPL PRR12 PUF60 RAC3 RAD21 RHOBTB2 RNF2 ROR2 RPS23 RUSC2 SATB2 SEC31A SHANK3 SHOC2 SLC25A24 SLC30A9 SLC35C1 SLC3A1 SLC6A9 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCE1 SMC1A SMC3 SOX11 SPEN SPOP SRCAP STAG1 TAF1 TAF6 TBX4 TENT5A TIMM50 TMCO1 UFC1 VARS1 VPS13B VPS33A VPS51 WNT5A ZFHX4 ZNF699 HP_LONG_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FINGERS ABL1 ACSL4 ACTA2 ACTG2 ADAMTSL1 ADNP AEBP1 AIP ALG12 ALG14 ALG3 AMER1 AMMECR1 ARVCF ARX ASPH ASXL1 ASXL3 ATP2B1 ATRX B3GALT6 B4GALT7 BCORL1 BCR BGN BIN1 BMP1 BMP15 BNC1 BRF1 C1R CBS CCDC88A CCNK CDC42 CDC42BPB CDKL5 CHD4 CHRNG CHST14 CIC CLCN3 CLP1 CNOT1 CNOT3 CNTN1 COG7 COL11A1 COL12A1 COL1A2 COL2A1 COL3A1 COMT COPB1 CPLX1 CPT2 CRKL CRLF1 CTBP1 CTSC CYP26B1 DDX6 DHX30 DLG4 DLX5 DOCK3 DPAGT1 DPH5 DPYSL5 DSE DYRK1A EBF3 EBP ECE1 EED EFEMP2 EHMT1 EIF2S3 ELN EXOC6B EXOSC5 FARSA FBLN5 FBN1 FBN2 FBXO11 FGFR2 FGFR3 FIG4 FLNA FOXE3 FSHR GABRA3 GATA2 GATA4 GATAD2B GJA1 GJB3 GJB4 GNAI1 GNB1 GNB2 GP1BB GPR101 H3-3A H3-3B H4C5 HDAC8 HEATR3 HECTD4 HERC1 HEY2 HIRA HIVEP2 HNRNPH1 HNRNPH2 HUWE1 IARS2 INPPL1 IPO8 IRX5 JMJD1C KANSL1 KATNB1 KCNE5 KDM1A KDM5C KDSR KIF1A KIF7 KIFBP KMT2A KMT2C KMT2E LAGE3 LARS1 LAS1L LETM1 LMNB2 LOX MAF MAGEL2 MAP1B MAP3K7 MAPK1 MAPRE2 MAT2A MED12 MED12L MFAP5 MRPS22 MSH4 MTHFS MTM1 MYH11 MYLK MYMK MYOD1 NAA10 NALCN NARS1 NELFA NFIX NKAP NPR2 NPR3 NR2F1 NR5A1 NSD2 NSDHL NUP107 ODC1 OSGEP OTUD6B PAPPA2 PAX1 PCGF2 PEPD PHF21A PHF6 PHF8 PHGDH PHIP PIEZO2 PIGA PIGB PIGG PIGN PIGV PLAA PLOD1 PMM2 POLR3A POLR3H POR PQBP1 PRDM5 PRIM1 PRKAR1B PRKG1 PRR12 PSMB8 PSMC3IP PTCH1 PTCH2 PTRH2 PUF60 PUM1 PYCR2 RAB11B RECQL RETREG1 RFX7 RNF13 RPL10 RPS6KA3 RREB1 RUNX2 RUSC2 RYR1 SATB2 SCARF2 SCN9A SEC24C SETD1B SH2B1 SIM1 SIN3A SKI SLC12A6 SLC25A12 SLC25A46 SLC2A10 SLC39A13 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCAD1 SMARCE1 SMC1A SMS SNIP1 SON SOX5 SOX6 SPEG SPEN SPIDR SPOP STUB1 SUFU SUPT16H SVBP TBR1 TBX1 TBX4 TCF20 TCF4 TELO2 TFE3 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMCO1 TMEM94 TNNT3 TP53RK TPR TRAPPC9 TRIO TRPM3 TTN TUBB TWIST1 UBE3B UFD1 UNC80 UPF3B USP9X VAC14 VPS13B WASF1 WLS WNK1 XYLT2 YRDC YY1 ZDHHC9 ZEB2 ZMIZ1 ZMYM2 ZNF469 ZNHIT3 ZSWIM7 HP_LONG_FOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FOOT AGPAT2 AIP ASNS BSCL2 CAV1 CAVIN1 EED FIBP FLNA FOS HERC1 INSR KMT5B MEN1 NF1 NSD1 PACS1 PDGFRB PIGL POLR3A PPARG RNU4ATAC RPS6KA3 SETD2 SIM1 SUZ12 UBE3B UPF3B HP_LONG_HALLUX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_HALLUX DPM1 FAM20C FIBP FLI1 GNAI1 GNE KAT6B KCNH1 KCNN3 KMT2A NKX3-2 NPR2 NPR3 POLR3GL PRKAR1A PTH1R SCARF2 SMS SOX5 ZEB2 ZNF668 HP_LONG_NASAL_BRIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NASAL_BRIDGE BPTF MYH3 PSMC1 SEPTIN9 TPM2 HP_LONG_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NECK ATP7A EBP EYA1 FLNA GABRA3 HERC1 POLR3A HP_LONG_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NOSE ABL1 ACTB ACTG1 AP1S2 AP4E1 ASXL3 EXTL3 FGFR2 FRA10AC1 GABRA3 GJA1 JAG1 KAT6B MED12 NBN NEXMIF NOG NOTCH2 OPHN1 PIEZO2 PIGS PIGU POLE RECQL4 RNU4ATAC SATB2 SCUBE3 SETD2 SLC9A6 SMG9 SOX11 SOX18 SPATA5 SRCAP THOC6 TRPM3 TWIST1 XRCC4 ZBTB18 ZMYM2 HP_LONG_PALM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALM POR SLC2A10 SMS UBE3B UPF3B HP_LONG_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALPEBRAL_FISSURE ACTB ACTG1 ADNP AFF3 ANKRD11 AP3B2 ARX BMP1 BRAF BUB1 CAMK2G CCNK CLP1 CUX1 DDB1 DNM1 DPH5 DVL1 DVL3 EIF5A FIBP FTSJ1 FZD2 GATAD2B GNB2 H4C5 HDAC4 HNRNPK INPPL1 IPO8 KDM6A KMT2A KMT2D KRAS LMBRD2 LMNB1 MAP2K1 MAP2K2 NXN OTUD6B PCLO PDE4D PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3R2 PRR12 PURA RAC1 RFX7 RNU4ATAC ROR2 SPEN SPOP SPTBN1 TBL1XR1 TGFB3 WAC WARS1 WNT5A HP_LONG_PENIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PENIS AIP AKT1 CYP11B1 ESCO2 FGFR1 GPR101 INSR KCNH1 LHCGR POLR3A PTEN HP_LONG_PHILTRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PHILTRUM AARS1 ABCC8 ABCC9 ACTA1 ACTB ACTG1 ADAMTSL2 ADNP ADSL AFF4 ALDH6A1 ALG11 ALG13 ALG8 ALG9 ANKRD11 ANTXR1 AP1G1 AP2M1 AP3B1 APC ARHGEF2 ARID1A ARID1B ARSK ARVCF ARX ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 BAP1 BAZ1B BCL11B BCL7B BCOR BMP1 BMP2 BRAF BRAT1 BRCC3 BRD4 BRF1 BRPF1 BUB1B BUD23 C12orf57 CAMK2G CAMTA1 CANT1 CASK CASZ1 CBL CCDC8 CCNK CD96 CDC42 CDC6 CDH11 CDH2 CDK10 CHD2 CHD8 CHRNG CHST14 CHST3 CLCF1 CLCN3 CLCN6 CLIP2 CLTC CNOT1 COG1 COL11A1 COL11A2 COL2A1 COMT COX7B CPLX1 CREBBP CRLF1 CRTAP CSGALNACT1 CTCF CTNNB1 CUL7 DDR2 DHCR7 DLK1 DLL3 DNAJC30 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EED EIF2S3 EIF4H ELN EPG5 ERCC6 EXOC2 EXOC7 EXOSC1 EXOSC2 EXT1 EXT2 EXTL3 EZH2 FAR1 FBN1 FBXO11 FGD1 FGF3 FGFR1 FGFR2 FKBP6 FLI1 FLNA FOXP2 FZD2 GABRD GAD1 GJA1 GJA5 GJA8 GLB1 GLIS3 GNE GNPTAB GP1BB GPC6 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HDAC8 HECTD4 HES7 HIRA HPDL HRAS HSD17B4 HSPG2 HUWE1 IARS2 IDH1 IFT80 IFT81 IGF1R INPPL1 INTS1 IRX5 JMJD1C KARS1 KAT6B KCNAB2 KCNH1 KCNJ11 KCNJ8 KDM4B KIAA0753 KIF11 KIF26A KIF7 KIT KLHL41 KMT2A KRAS LFNG LIMK1 LMNB1 LTBP1 LTBP3 LTBP4 LUZP1 MAB21L1 MAB21L2 MADD MAF MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MED12 MEG3 MEGF8 MEIS2 MESP2 METTL23 METTL27 METTL5 MGAT2 MID1 MLXIPL MMP23B MOCS1 MOCS2 MPC1 MRPS28 MTOR MTX2 MUSK MYH3 MYMK MYMX MYO18B MYOD1 NAA10 NALCN NARS2 NBAS NCF1 NEB NEK9 NEXMIF NF1 NFIB NIPBL NLRP1 NOTCH2 NOTCH3 NRAS NSD1 NSD2 NSRP1 NXN OBSL1 OCLN OCRL OSTM1 OTUD6B PAH PCDHGC4 PCLO PDE4D PDHA1 PDPN PEX26 PGM2L1 PHIP PIEZO2 PIGB PIGN PIGQ PIGT PKDCC PLAA PLPBP PMM2 POC1A POLR3A POR POU4F1 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R3C PPP2R5D PRDM16 PRKCZ PRKDC PRMT7 PTCH1 PTEN PTH1R PUF60 PUS1 PYCR1 PYCR2 RAB3GAP2 RAC3 RAD21 RAI1 RERE RFC2 RFX7 RHOBTB2 RIC1 RIN2 RIPPLY2 RNF135 RNU4ATAC ROR2 RPL10 RREB1 RTL1 SATB2 SC5D SCN1A SEC23A SEC24C SETBP1 SETD5 SHANK3 SHMT2 SIN3A SKI SKIC3 SLC25A24 SLC26A2 SLC2A1 SLC2A10 SLC6A1 SLC6A17 SLC9A7 SLF2 SMARCA2 SMARCA4 SMARCB1 SMC1A SMC3 SMG8 SMOC1 SNAI2 SNRPB SNX14 SOX9 SPECC1L SPEN SPRED2 SRCAP STAG2 STX1A SUZ12 SYNE1 SYNGAP1 TAF1 TAF6 TAF8 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL2 TBX1 TENM3 TET3 THSD1 TMEM147 TMEM270 TMEM53 TMEM70 TMEM94 TNNI2 TNPO2 TOR1A TPM3 TRAPPC4 TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRPS1 TTC5 TUBB UBE4B UBR1 UBR7 UFD1 UGP2 USB1 USP9X VPS37D WARS2 WDR35 WNT5A WWOX XYLT1 XYLT2 YARS2 ZC4H2 ZMIZ1 ZNF699 HP_LONG_THORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THORAX BCOR INTU KAT6A NAA10 PCGF2 PRKACA PRKACB TRPV4 HP_LONG_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THUMB ADH5 KAT6B KCNN3 MED12 NPR3 PTH1R RECQL TBC1D24 HP_LONG_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TOE B4GALT7 COL12A1 COL6A1 COL6A2 COL6A3 CPT2 DLK1 DPM1 FAM20C FBN1 FIBP FLI1 GATAD2B GNAI1 GNE IPO8 IRX5 KAT6B KCNH1 KCNN3 KMT2A KMT5B LARS1 MEG3 NKX3-2 NPR2 NPR3 NSDHL PAPPA2 PHF8 POLR3A POLR3GL PRKAR1A PTH1R PUF60 RTL1 SCARF2 SMARCA2 SMS SOX5 TBX4 TMEM94 XYLT2 ZEB2 ZNF668 HP_LONG_TRACT_SIGNS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TRACT_SIGNS APOE APP CYP27A1 GTF2E2 MPO NOS3 PLAU TNFRSF11A HP_LONG_UPPER_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_UPPER_LIP AFF2 ARX B3GALT6 DIS3L2 RECQL4 SLC35C1 TBL1XR1 TRPS1 HP_LOP_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOP_EAR C12orf57 CCNQ CHD7 COL5A1 IGBP1 SALL1 HP_LOSS_OF_AMBULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_AMBULATION ACTB ADAM22 ADAR ALDH18A1 ALS2 AP4S1 APTX BVES C19orf12 CACNA1A CDKL5 CHRND CLN3 CLN5 CLN8 COQ2 CRAT CRPPA DARS2 DES DMD DNAJB6 DNAJC6 DSTYK DYSF EIF2B3 EIF2B5 EMD EPRS1 ERBB4 EXT2 FA2H FARS2 FHL1 FKRP FOXRED1 GABBR2 GALC GDAP1 GFM2 GGPS1 GIPC1 GLRX5 GMPPB GOSR2 HINT1 HK1 HNRNPA1 HSD17B10 HYCC1 IRF2BPL JAG2 KLHL9 LARGE1 LDB3 LETM1 LMNA LRP12 LRP5 LYRM7 MAG MAPT MARS2 MCM3AP MECP2 MECR MPV17 MT-ATP6 MYH7 MYOT NDUFA6 NEU1 NOTCH2NLC NTNG1 NUP54 NUP62 OPTN PEX1 PEX16 PLA2G6 PLEC PLP1 POLR3A POLR3B POMT1 POMT2 PRX PSAP REPS1 RILPL1 RNASEH1 RRM2B SAMD9L SBF1 SDHA SDHAF1 SDHB SDHD SELENON SGCB SGCG SIGMAR1 SLC39A14 SLC9A6 SMC1A SMN1 SMN2 SNCA SPTLC1 SUCLA2 TFG TGM6 TK2 TRIM32 TWNK UCHL1 VAC14 VAPB VCP VPS13A VPS16 HP_LOSS_OF_CONSCIOUSNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_CONSCIOUSNESS ABCC8 ACADM ADORA2A CPT1A GCDH GK GLYCTK HNF1A KCNE1 KCNJ11 KCNQ1 MT-CYB MTRR NAB2 NAGS NOTCH2NLC NOTCH3 RNU4ATAC SLC19A3 STAT6 TBK1 TICAM1 TLR3 TRAF3 UCP2 UNC93B1 UPB1 HP_LOSS_OF_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_EYELASHES GATA1 LMNA RNU4ATAC UROD UROS ZMPSTE24 HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS ATXN1 CACNA1G NOP56 SACS TSEN54 HP_LOSS_OF_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SPEECH AARS2 ABCD1 ADAR ALDH18A1 ALS2 ARSA BSCL2 CDKL5 CHMP2B CLN8 ERLIN2 GABBR2 GALC GM2A GRIN2A GRN HGSNAT IFIH1 IRF2BPL LSM11 MAN2B1 MAPT MECP2 NAXD NPC1 NPC2 NTNG1 PPT1 PSAP PSEN1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SARDH SLC19A3 SMC1A SPG7 SQSTM1 TMEM106B TPK1 TREM2 TREX1 VCP HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS CAV1 CIDEC LIPE LMNA LMNB2 PLIN1 POLD1 PPARG ZMPSTE24 HP_LOSS_OF_VOICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_VOICE ASAH1 FTL SDHA SDHAF2 SDHC SDHD HP_LOWER_EXTREMITY_JOINT_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EXTREMITY_JOINT_DISLOCATION AARS1 ABCC9 ACTA1 ADAMTS2 ADAMTSL2 AEBP1 AFF3 AGRN AKT1 ALDH18A1 ALG9 APC ARF1 ARFGEF2 ARNT2 ARVCF ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR B3GALT6 B3GAT3 BAZ1B BCL7B BICD2 BPNT2 BRCA1 BRCA2 BRD4 BRIP1 BUD23 C12orf57 CANT1 CCDC47 CCDC8 CD96 CDON CEP85L CFL2 CHAT CHRM3 CHRNG CHST11 CHST3 CLCN3 CLIP2 CLTCL1 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL27A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COMT COX8A CPLX1 CREBBP CSGALNACT1 CTBP1 CUL7 DHCR7 DHODH DISP1 DLL1 DNAJC21 DNAJC30 DPYSL5 DSTYK DVL1 DVL3 EBP ECEL1 EFEMP2 EIF2AK3 EIF4A3 EIF4H ELN EP300 ERCC1 ERCC4 ERGIC1 ERMARD EXOC6B EXOSC3 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN1 FBLN5 FBN2 FGF8 FGFR1 FGFRL1 FHL1 FIG4 FKBP6 FKRP FLI1 FLNA FLNB FOXH1 FUT8 FZD2 GAS1 GDF5 GEMIN4 GJA1 GLI2 GLI3 GLRA1 GLRB GMPPB GNPTAB GORAB GP1BB GPC3 GPC4 GPHN GSC GTF2I GTF2IRD1 GTF2IRD2 HACD1 HACE1 HDAC4 HDAC8 HIRA HK1 HNRNPH1 HOXA11 HPRT1 HSPG2 IARS2 IFIH1 IL6ST INPP5K IPO8 ITGA7 JMJD1C KANSL1 KAT6B KDM6A KIF22 KLHL41 KMT2D LARGE1 LETM1 LIMK1 LMNA LMOD3 LMX1B LONP1 LRP4 LTBP1 LYSET MAB21L2 MACF1 MAD2L2 MAP1B MAP3K20 MAP3K7 MASP1 MBTPS2 MCTP2 METTL27 MKKS MLXIPL MYH3 MYH8 MYL2 MYO9A NAA10 NCF1 NEB NEDD4L NFIX NGLY1 NIPBL NKX3-2 NODAL NOTCH2 NSD2 NSDHL OBSL1 OCRL OSGEP PAFAH1B1 PALB2 PIEZO2 PIGL PKDCC PLCH1 PLOD1 POLR3B POMT1 POMT2 PORCN PPP2R5D PRKACB PTCH1 PTEN PTRH2 PUF60 PYCR1 PYCR2 RAD21 RAD51 RAD51C RBM8A RECQL4 RFC2 RFWD3 RNU4ATAC RREB1 RUNX2 RYR1 RYR3 SCYL2 SEC24C SEC31A SELENON SF3B4 SHH SHROOM4 SIL1 SIX1 SIX3 SLC10A7 SLC12A2 SLC18A3 SLC25A1 SLC26A2 SLC2A10 SLC35A3 SLC35B2 SLC5A7 SLC6A5 SLC6A9 SLX4 SMC1A SMC3 SMO SMOC1 SNAP25 SNRPB SOX9 SPARC STAG2 STIL STX1A STXBP1 SYNE1 SYT2 TBCD TBL2 TBX1 TBX15 TBX4 TDGF1 TELO2 TFE3 TGIF1 THRA TMEM270 TMTC3 TNNT3 TONSL TOR1A TPM2 TPM3 TRIM8 TTC26 UBA2 UBE2A UBE2T UBE3B UFD1 USP9X VAC14 VAMP1 VPS37D WNT5A WNT7A XRCC2 XYLT1 YWHAE YY1 ZC4H2 ZIC2 ZIC3 ZMPSTE24 ZNF469 HP_LOWER_EYELID_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EYELID_COLOBOMA EDNRA KCTD1 POLR1A POLR1B POLR1C POLR1D RIPK4 SF3B4 TCOF1 TXNL4A HP_LOWER_LIMB_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_AMYOTROPHY AARS1 ADSS1 AIFM1 AIMP1 ALS2 ANO5 ARSI ATAD3A ATL1 ATXN3 B4GALNT1 BICD2 BSCL2 CADM3 CPT1C CUL4B CYP7B1 DNAJB2 DYSF FARS2 FBLN5 FBXO38 FGD4 FITM2 FLNC FLRT1 GIPC1 GJB1 GNB4 GNE HINT1 HK1 HSPB1 HSPB3 HYCC1 INF2 KAT6A KDM5C KIF1A KIF5A KLC2 KRT14 KRT5 KY LAMP2 LMNA LRP12 MAG MFN2 MME MORC2 MT-TE MTRFR MYH7 MYPN NDRG1 NEFH NEFL NEXMIF NOTCH2NLC PDK3 PDXK PLP1 PMP22 RAB7A RILPL1 RTN2 RYR1 SLC12A6 SLC33A1 SPG11 TCAP TFG TPM2 TPM3 TRPV4 UBAP1 VWA1 WARS1 YY1 HP_LOWER_LIMB_ASYMMETRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_ASYMMETRY ACTB AGGF1 AKT1 CASZ1 COL2A1 CTSK DACT1 DMP1 EBP ENPP1 EXT1 EXT2 FN1 GABRD GNAQ GRB10 H19 HSPG2 IGF2 KAT6A KCNAB2 KRAS LEMD3 LUZP1 MAPK1 MAPRE2 MMP23B MNX1 PDPN PIK3CA PORCN PRDM16 PRKCZ PTEN RASA1 RERE SALL1 SATB2 SETD5 SKI SPEN TONSL TRPV4 TUBB UBE4B USP9X HP_LOWER_LIMB_HYPERREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERREFLEXIA ABCC9 AFG3L2 ALDH18A1 AMFR ANO10 APOE ARL6IP1 ATL1 ATP13A2 CAPN1 CLDN11 COX4I1 CYP2U1 DKK1 DLAT DPM1 FAR1 FARS2 FTL GCH1 GJB1 GLUL HARS1 HEXB HPDL IBA57 IFRD1 IMPDH2 KDM5C KIF1A KIF1C KIF5A KPNA3 KY LARGE1 LBR LYRM4 MECP2 MKS1 MSL3 MT-TE MTPAP MTRFR NIPA1 NONO NR4A2 OCA2 PDE8B PGM3 PLXNA1 PSEN1 RARS1 REEP1 REEP2 RUBCN SACS SDHA SDHAF1 SDHB SDHD SELENOI SIGMAR1 SLC33A1 SPG11 SPG7 ST3GAL5 SUMF1 SYNE1 TAF1 TH TMEM63C TNR TREX1 TRRAP TSPOAP1 UBAP1 UBE3A UCHL1 UFC1 USP8 VCP VLDLR VPS11 WASHC5 ZFYVE26 ZNF142 HP_LOWER_LIMB_HYPERTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERTONIA AFG3L2 ALDH18A1 ASXL1 ATL1 ATRX CLDN11 FA2H FAR1 GDAP2 KAT6A KDM1A KDM5C KIDINS220 KIF5A LBR MTPAP MTRR PIGA PNPT1 RARS1 RNU7-1 SDHA SDHAF1 SDHB SDHD SEPSECS SLC33A1 SLC35C1 SLC39A14 SMG9 SPG7 TSEN15 TSEN2 TSEN34 TSEN54 VPS37A HP_LOWER_LIMB_JOINT_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_JOINT_CONTRACTURE ABCC8 ABCC9 ABCD1 ABHD12 ACTA1 ADAT3 ALAD ALG14 ALG2 ALS2 AMER1 ANKLE2 ANO5 APC2 ATP5F1D ATP6V1E1 BAG3 BCAS3 BCOR BICD2 BIN1 BRF1 C18orf32 C19orf12 CAPN3 CAV1 CCN2 CCR6 CFL2 CHRNB1 CHRNG CNTNAP1 COL12A1 COL25A1 COL2A1 COL6A1 COL6A2 COL6A3 COL7A1 CPT2 CRPPA DAG1 DDHD2 DDR2 DHX16 DMD DPAGT1 DPM1 DSP DYRK1A EIF5A EMD ERCC1 ERCC4 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 ESCO2 F8 FBN1 FBN2 FDFT1 FGFR3 FHL1 FIG4 FKBP10 FKRP FKTN FLNA FUS GARS1 GCK GFM2 GFPT1 GJB1 GJB2 GJB6 GLI3 GMPPB GNB2 GNPTAB GNS HACD1 HINT1 HLA-DRB1 HRAS HS2ST1 HSPG2 IL6ST INS IPO8 IRF5 ITGA7 JAG2 JUP KAT6B KCNJ11 KCNK9 KIAA0319L KLHL9 KY LARGE1 LBR LGI4 LIFR LMBRD2 LMNA LMX1B MAP3K20 MAP3K7 MARS1 MEGF10 MEGF8 MMP1 MMP2 MT-TE MUSK MYBPC1 MYH3 MYL1 MYL11 MYL2 MYO9A MYOT NALCN NEB NEDD4L NFATC2 NGLY1 NOD2 NSD1 NSUN2 NT5C2 OPA1 ORAI1 P4HTM PDX1 PHF6 PI4KA PIEZO2 PIGA PIGN PIGY PIK3R2 PLEC PLOD2 PNPT1 POMT1 PPP2R5D PRG4 PSAT1 PSMB8 PSTPIP1 PTDSS1 PTH1R PTRH2 PYROXD1 REEP1 RMRP RNU4ATAC RPL10 RTTN RYR1 SCARF2 SCN4A SCYL2 SDHA SDHAF1 SDHB SDHD SELENON SETD2 SGCA SGCG SIGMAR1 SIK3 SLC10A7 SLC12A6 SLC18A3 SLC1A4 SLC25A19 SLC25A4 SLC25A46 SLC26A2 SLC29A3 SLC39A14 SLC39A8 SLC6A9 SNAP25 SPEG SPG11 SPTBN4 SPTLC1 SRD5A3 STAT3 SVIL SYNE1 SYNE2 SYT2 TBC1D2B TELO2 TGFB3 TMEM43 TNNT1 TOR1AIP1 TPM2 TPM3 TRIM2 TRPV4 TTN UBA1 UFC1 UNC80 VARS1 WDR26 ZBTB20 ZC4H2 HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY CFAP410 COL10A1 CSPP1 DNAJC21 KIAA0586 RPL13 RSPRY1 SBDS SRP54 TRPV4 HP_LOWER_LIMB_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_MUSCLE_WEAKNESS AARS1 ABCD1 ADAR ADSS1 AFG3L2 AGRN AIFM1 AKT1 ANO5 AP5Z1 ASAH1 ATL1 ATP5MC3 B4GALNT1 BAG3 BAP1 BICD2 BSCL2 CACNA1S CAPN1 CAPN3 CAV1 CCND1 CHAT CHCHD10 CHRNA1 COL13A1 COL25A1 CPT1C CRPPA CRYAB CYP27A1 CYP7B1 DCTN1 DDHD1 DDHD2 DES DGUOK DHTKD1 DNM2 DSTYK DYSF EGR2 EIF2B2 EIF2B3 EMILIN1 ERGIC1 ERLIN2 EXTL3 FARS2 FBLN5 FBXO38 FDX2 FGD4 FHL1 FKTN FLI1 FLNC GABRA3 GALC GARS1 GBA2 GDAP1 GIPC1 GJB1 GMPPB GNB1 GNB4 GNE GYG1 HADHA HADHB HARS1 HINT1 HK1 HSPB1 HSPB3 HSPB8 HSPD1 HYCC1 IBA57 IGHMBP2 JAG2 KCNJ10 KCNJ18 KIF1A KIF5A KPNA3 L1CAM LIPE LMNA LPIN1 LRP12 MAPT MATR3 MFN2 MME MORC2 MPZ MRPS2 MT-ATP6 MT-CO1 MT-CO3 MTHFR MTMR14 MTRFR MTTP MYH14 MYH7 MYO9A MYPN NDRG1 NEFH NEFL NF1 NF2 NIPA1 NOTCH2NLC NUP54 NUP62 OBSCN PDGFB PDK3 PDXK PHKA1 PI4KA PIEZO2 PIK3CA PLEC PLP1 PMP2 PMP22 PNKP PNPLA6 PRNP PRORP PRX RAB7A RASA1 REEP1 RILPL1 RNASEH1 RNF170 RTN2 SARDH SBF1 SBF2 SCO2 SCYL1 SCYL2 SECISBP2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC33A1 SLC5A6 SLC5A7 SMARCB1 SMARCE1 SMN1 SMN2 SMO SMPX SNAP25 SORD SPART SPAST SPG11 SPG21 SPG7 SPTLC1 SPTLC2 SUFU SYNE1 SYT2 TCAP TDP1 TERT TFG TNNT1 TPM2 TPM3 TRAF7 TRPV4 TTN UBAP1 VAMP1 VAPB VCP VHL VPS13D VWA1 WARS1 WASHC5 ZFYVE26 ZFYVE27 HP_LOWER_LIMB_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_PAIN ACP5 ALDH18A1 B2M BSCL2 COL2A1 COL9A1 COL9A2 COL9A3 COMP ERLIN1 FAR1 GJB2 GJB6 HEPHL1 HTRA1 HYAL1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LEMD3 LMX1B MAFB MATN3 MFN2 MME MMP13 MT-ATP6 MT-TK NAGLU NLRP12 PRKRA RASA1 SLCO2A1 SPG7 TGFB1 TONSL TRAPPC2 HP_LOWER_LIMB_SPASTICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_SPASTICITY ABCA12 ABCD1 ABHD16A ACTL6B ADAR ADGRG1 AFG3L2 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALG9 ALS2 AMFR AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARG1 ARL6IP1 ARSI ARX ATL1 ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATPAF1 ATPAF2 ATRX ATXN10 B4GALNT1 BCOR BICD2 BSCL2 BTD C19orf12 CACNA1C CACNA1D CAMK2B CAPN1 CCDC88C CCT5 CLCN4 CLTC CNTNAP2 COASY COQ5 COX15 CPT1C CYP27A1 CYP2U1 CYP7B1 DARS1 DDHD1 DDHD2 DNAJC19 DNM1L DSTYK EDNRB EIF2AK1 ELOVL1 ENTPD1 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 ERLIN2 FA2H FAR1 FARS2 FBXO7 FLRT1 FUS GALC GAMT GAN GATAD2B GBA1 GBA2 GBE1 GFAP GFM2 GJA1 GJC2 GOT2 GPT2 H4C5 HACE1 HEPACAM HIKESHI HPDL HSPD1 IBA57 IDUA IFIH1 INPP5K INTS8 KDM5C KIDINS220 KIF1A KIF5A KLC2 KPNA3 KY L1CAM LAMB1 LSM11 LYST MAG MAN2B1 MARS1 MECP2 MED13L MICOS13 MRE11 MT-ATP6 MT-ATP8 MTHFR MTPAP MTRFR NDUFA13 NEU1 NEXMIF NIPA1 NT5C2 ODC1 OPA1 OPA3 PAX3 PDHX PEX16 PEX3 PGAP1 PI4KA PIGA PLP1 PNP PNPLA6 POLG POLR3GL PPP1R15B PRRT2 PRUNE1 PSAP RAB18 RAB3GAP2 RARS1 RARS2 REEP1 REEP2 REPS1 RNASEH2A RNASEH2B RNASEH2C RNF170 RNF220 RNU7-1 RTN2 SACS SAMHD1 SATB1 SATB2 SDHA SDHAF1 SDHB SDHD SELENOI SETX SIGMAR1 SLC16A2 SLC1A4 SLC25A15 SLC2A1 SLC30A10 SLC33A1 SOD1 SOX10 SPART SPAST SPG11 SPG21 SPG7 SPTLC1 SRPX2 STUB1 STXBP1 SYNE1 TBCD TBCE TCEAL1 TECPR2 TFG TMEM63C TOE1 TPK1 TREX1 TRMT10A TTC19 TTR UBAP1 UBE4A UCHL1 USP8 VAMP1 VCP VPS37A VPS41 VWA3B WASHC5 WDR45 WDR45B WDR48 WWOX ZFR ZFYVE26 ZFYVE27 ZNF668 HP_LOWER_LIMB_UNDERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_UNDERGROWTH ADNP ALPL ARL6IP6 CHUK COL2A1 EXT1 EXT2 FN1 GNA11 LAMA5 MMP13 NOG PAPSS2 PPIB SHOX SLC26A2 HP_LOW_1_MINUTE_APGAR_SCORE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_1_MINUTE_APGAR_SCORE FGFR3 HERC2 MAGEL2 MCTP2 MKRN3 MTM1 NPAP1 PRPS1 PWAR1 PWRN1 SNORD115-1 SNORD116-1 USP9X HP_LOW_ALKALINE_PHOSPHATASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ALKALINE_PHOSPHATASE ABL1 ALPL BCR C18orf32 CEBPE LIPA PIGK PIGS PIGT SLC39A4 HP_LOW_ANTERIOR_HAIRLINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ANTERIOR_HAIRLINE ABCC9 ADA2 AGPAT2 AIFM1 ALG11 ANKRD11 ARID1A ARID1B ARID2 ARX ASH1L ASXL1 ATP6V1B2 BICRA BRCA1 BRD4 BSCL2 CAV1 CAVIN1 CDC42BPB CDK5 CIT CLCN3 COG7 CREBBP DOCK6 DOCK7 DPF2 DPM2 EMC1 EP300 ERMARD FGFR2 FGFR3 FKRP FOS FREM2 FRMD4A GATA1 H3-3A H4C5 HDAC8 HEATR3 HSPG2 IGF1 INSR KCNH1 KCNJ8 KCNN3 KREMEN1 LIG4 LRPPRC MAB21L1 MAN2B1 MAP3K7 MAPRE2 MED13L MEGF8 NANS NBN NIPBL NOTCH2 NSUN2 NUDT2 PACS1 PEPD PGAP1 PIK3C2A POLR1B POLR1C POLR1D PPARG PPP1R15B PRDM13 RAB18 RAB3GAP2 RAD21 RALGAPA1 RBL2 RHOBTB2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SETD5 SH2B1 SLC12A6 SLC25A24 SLC35C1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SOX11 SOX4 SPATA5L1 SPEN SPOP STAG2 SVBP TAF6 TBC1D20 TBC1D24 TBX15 TBX2 TCF12 TCOF1 TECPR2 TMCO1 TRIO TRMT10A TRPM3 TSR2 TTC5 TWIST1 TWIST2 VPS13B VPS33A XRCC4 ZIC1 ZNF699 HP_LOW_APGAR_SCORE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_APGAR_SCORE ALDH7A1 FGFR3 HERC2 LONP1 MAGEL2 MCTP2 MKRN3 MTM1 NPAP1 PDHA1 PLPBP PNPO PRPS1 PWAR1 PWRN1 SNORD115-1 SNORD116-1 USP9X HP_LOW_BACK_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_BACK_PAIN ALDH18A1 ANXA11 COL2A1 FAR1 HGD HTRA1 NAB2 NGF SPAST STAT6 TBX6 WASHC5 WRN HP_LOW_FRUSTRATION_TOLERANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_FRUSTRATION_TOLERANCE CNTNAP2 DNAJC13 EIF4G1 GATAD2B GBA1 GIGYF2 GNB2 KDM5C KMT2A LRRK2 MAOA MED12 OPHN1 PPP2R5D PUF60 SMARCA2 SNCA VPS35 HP_LOW_GRADE_FEVER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_GRADE_FEVER ANKRD55 CALR CD247 IL2RA IL2RB JAK2 MPL PTPN2 PTPN22 STAT4 TET2 HP_LOW_HANGING_COLUMELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_HANGING_COLUMELLA AFF3 AIMP2 ASXL3 ATN1 BICRA CAPN15 CDC42BPB CDH11 CKAP2L CLCN3 CLP1 CREBBP CTNNB1 EDEM3 EP300 GJA1 GJA5 GJA8 H3-3B HIVEP2 HNRNPH2 HNRNPR ITCH KAT6A KDM3B KDM5B KMT2D KMT5B KNL1 LIFR MGAT2 NOG PCDHGC4 POC1A PPP1R21 PQBP1 RAC1 RYR1 SETD2 SMARCA2 SOX11 SRCAP TAF6 TBCD THOC6 TRIO TRIP12 TWIST1 UBE2A ZEB2 ZMIZ1 ZNF148 HP_LOW_INSERTION_OF_COLUMELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_INSERTION_OF_COLUMELLA ALG9 MADD RHOBTB2 SMG9 TGDS TSPEAR HP_LOW_LEVELS_OF_VITAMIN_D https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_LEVELS_OF_VITAMIN_D ACOX2 ALDH18A1 COL7A1 CTNS DNAJC21 DZIP1L EFL1 ELN FARSB FBLN5 FGF23 FOCAD GALNT2 GALT GATA1 GPR35 HLA-DQA1 HLA-DQB1 MMP1 MST1 MTTP OCRL PKHD1 PTH1R RPL11 RPS10 SBDS SEMA4D SLC10A1 SLC37A4 SLC51B SRP54 TCF4 UROS HP_LOW_LEVELS_OF_VITAMIN_K https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_LEVELS_OF_VITAMIN_K AMACR DNAJC21 DZIP1L EFL1 GPR35 HLA-DQA1 HLA-DQB1 MST1 PKHD1 SBDS SEMA4D SRP54 TCF4 TJP2 HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA CLCN5 CTNS EHHADH GATM NDUFAF6 OCRL SLC34A1 HP_LOW_PLASMA_CITRULLINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_PLASMA_CITRULLINE ALDH18A1 ATP5F1A CA5A CPS1 MRM2 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW OTC PCK1 HP_LOW_POSTERIOR_HAIRLINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_POSTERIOR_HAIRLINE ABCC9 ACTB ACTG1 AEBP1 AGPAT2 ALDOA ALG12 ALG9 ANKRD11 APC ARHGEF2 B3GAT3 BRAF BRD4 BSCL2 CAV1 CAVIN1 CBL CCDC22 CDH2 CDK13 CHN1 CHRNG CHST3 CNOT3 CPLX1 CREBBP CTBP1 EDEM3 EFNB1 EP300 FGFRL1 FOS GDF3 GDF6 GNE H3-3A HDAC8 HNF1B HUWE1 IGF1 INTU IRX5 KCNJ8 KDM4B KMT2A KNSTRN KRAS LETM1 LZTR1 MADD MAFB MAP2K1 MAP2K2 MAPK1 MBD5 MEOX1 MRAS MYH3 MYO18B NANS NELFA NF1 NFIX NIPBL NOTCH3 NRAS NSD2 PEPD PGAP1 PHF8 PIGG PIK3C2A PIK3CD PPARG PPP1CB PTPN11 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RASA2 RIT1 RPS28 RRAS RRAS2 SALL4 SCNM1 SHOC2 SLC25A24 SMARCA2 SMARCD1 SMC1A SMC3 SOS1 SOS2 SPRED1 SPRED2 SRCAP SRY TBX15 TFAP2A TMCO1 UBE2A USB1 VPS33A VPS51 WASHC5 WBP11 WNT4 XYLT2 ZNF699 HP_LOW_SELF_ESTEEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SELF_ESTEEM CACNA1H FMO3 GABRA1 GABRB3 GABRG2 IRF6 JRK MSX1 NECTIN1 SLC2A1 TP63 HP_LOW_SERUM_CALCITRIOL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SERUM_CALCITRIOL CYP27B1 CYP2R1 CYP3A4 DMP1 ENPP1 LRP5 HP_LOW_SET_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_EARS ACAN ACER3 ACOX1 ACP5 ACTA1 ACTB ACTG2 ADA2 ADAMTS2 ADAMTS3 ADAR ADAT3 ADGRG6 ADNP ADSL AFF3 AFF4 AGRN AHDC1 AHI1 AIFM1 AKT1 ALDH18A1 ALDH1A2 ALG13 ALG2 ALG6 ALG8 ALG9 ALX1 ALX3 ALX4 AMER1 ANO1 ANTXR1 ANTXR2 AP1G1 AP3B1 AP3D1 ARID1B ARID2 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASH1L ASXL1 ASXL2 ASXL3 ATIC ATN1 ATP2B1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR ATRX AUTS2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT1 B4GALT7 B4GAT1 B9D1 B9D2 BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL7B BCOR BICRA BLTP1 BMP2 BMP4 BMPER BMPR1A BRAF BRCC3 BRD4 BRF1 BRPF1 BUB1 BUB1B BUB3 BUD23 C12orf57 C2CD3 CACNA1C CACNA2D1 CAMK2G CAMKMT CAMTA1 CANT1 CASZ1 CAV1 CBL CBY1 CC2D2A CCBE1 CCDC22 CCDC47 CCNK CCNQ CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDK10 CDK13 CDKN1C CDT1 CENPF CENPJ CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CEP55 CEP57 CFAP418 CHAMP1 CHAT CHD3 CHD4 CHD5 CHD7 CHMP1A CHRNA1 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 CLCN3 CLIP2 CNOT1 CNOT2 CNOT3 CNTNAP1 COG1 COG5 COG7 COL11A1 COL11A2 COL13A1 COL2A1 COL4A1 COLEC10 COLEC11 COMT CPLANE1 CPLX1 CPT2 CREBBP CRLF1 CRPPA CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTCF CTNND2 CTSD CTU2 CUX1 CWC27 DAG1 DCPS DDB1 DDR2 DDX3X DDX59 DDX6 DHCR24 DHCR7 DHODH DHPS DHX30 DIS3L2 DLK1 DLL3 DLX4 DNAJC30 DNM1 DNMT3B DOCK6 DONSON DPF2 DPH1 DPH2 DPYSL5 DSE DST DVL1 DVL3 DYNC2LI1 DZIP1L EBF3 EBP EDEM3 EDN1 EDNRA EED EEF1A2 EFEMP2 EFL1 EFTUD2 EIF4A3 EIF4H EIF5A ELN EP300 EPG5 ERCC1 ERCC4 ERCC5 ERMARD ESCO2 EXOC2 EXOC7 EXOSC2 EXOSC9 EXT1 EYA1 EZH2 FAM149B1 FAM20C FANCB FANCD2 FANCL FAT4 FBLN5 FBN1 FBXO11 FDFT1 FGD1 FGF10 FGF20 FGFR1 FGFR2 FGFR3 FHL1 FIG4 FKBP6 FKRP FKTN FLI1 FLNA FLNB FOXF1 FOXL2 FOXP2 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FUCA1 FZD2 GABRA3 GABRD GAD1 GALNT2 GATA1 GATA4 GBA1 GFRA1 GJA1 GJA5 GJA8 GK GLB1 GLE1 GLI3 GLIS3 GLUL GMNN GNAI3 GNB2 GNE GNS GON7 GP1BB GPC3 GPC4 GPC6 GPKOW GPT2 GREB1L GRIP1 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H3-3A H4C3 H4C5 H4C9 HBA1 HBA2 HDAC6 HDAC8 HEATR3 HELLS HERC1 HES7 HIRA HMGA2 HMX1 HNRNPH1 HOXB1 HOXD13 HRAS HS2ST1 HS6ST2 HSD17B4 HSPG2 HUWE1 HYLS1 IFIH1 IFT122 IFT140 IFT172 IFT27 IFT52 IFT74 IFT81 IGBP1 IGF1R IGF2 IL6ST INPP5E INPPL1 INSR INTS1 INTU IPO8 IREB2 IRX5 ITCH ITGA8 JAG1 JARID2 JMJD1C KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNK4 KCTD1 KDM4B KDM6A KIAA0586 KIAA0753 KIF14 KIF15 KIF26A KIF7 KIFBP KLHL40 KLHL41 KMT2A KMT2D KRAS KYNU LARGE1 LARP7 LBR LETM1 LFNG LIFR LIG4 LIMK1 LMBRD1 LMNA LMOD3 LMX1B LRP2 LRPPRC LRRC8A LSM11 LUZP1 LZTFL1 LZTR1 MAB21L1 MACF1 MADD MAF MAGEL2 MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS1 MARS2 MASP1 MBD5 MBTPS2 MCM5 MCTP2 MECP2 MED12 MED13L MED25 MED27 MEF2C MEG3 MEGF8 MEIS2 MESD MESP2 METTL27 METTL5 MGAT2 MID1 MINPP1 MKKS MKS1 MLXIPL MMACHC MMP23B MN1 MRAS MRPL12 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MSL3 MTHFR MUSK MVK MYCN MYH3 MYMX MYO18B MYO9A MYOD1 MYSM1 NAA10 NAA20 NALCN NARS1 NCF1 NDE1 NEB NEK9 NELFA NEU1 NF1 NFIA NFIX NGLY1 NIPBL NOTCH2 NOTCH3 NPHP1 NRAS NSD1 NSD2 NSRP1 NSUN2 NTNG2 NUP188 NUP88 NXN OCLN OCRL OFD1 OGT ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B OTX2 PACS1 PAFAH1B1 PAICS PAM16 PAX1 PAX7 PBX1 PCDHGC4 PCGF2 PCLO PCNT PDE6D PDPN PDZD8 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHGDH PHOX2B PIBF1 PIEZO2 PIGB PIGG PIGN PIGT PIGU PIK3R1 PITX1 PKHD1 PLAA PLAG1 PLCB4 PLCH1 PLOD3 PLVAP PLXND1 PNPLA6 POC1A POGZ POLE POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPM1B PPM1D PPP1CB PPP1R12A PPP1R21 PPP2R3C PPP2R5D PRDM16 PRDX1 PREPL PRIM1 PRKCZ PRKDC PRKG2 PRPS1 PRR12 PRRX1 PRUNE1 PSAT1 PSMD12 PTCH1 PTEN PTF1A PTH1R PTPN11 PUM1 PURA PUS7 PYCR2 QARS1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAB5IF RAC1 RAD21 RAF1 RAI1 RALA RALGAPA1 RAPSN RARB RASA2 RB1 RBM10 RBM8A RDH11 RECQL4 RELN RERE RET RFC2 RIPK4 RIPPLY2 RIT1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 ROR2 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RSPO2 RSPRY1 RTL1 RTTN RUSC2 RXYLT1 RYR1 SAMHD1 SATB2 SCAPER SCLT1 SCN4A SCNM1 SCYL2 SDCCAG8 SEC24C SEMA3E SEMA5A SEPTIN9 SETBP1 SETD1A SETD5 SF3B4 SH3PXD2B SHOC2 SIAH1 SIM1 SKI SKIC3 SLC12A2 SLC18A3 SLC1A4 SLC25A1 SLC25A24 SLC26A2 SLC37A4 SLC39A8 SLC3A1 SLC5A7 SLC6A9 SMAD2 SMAD4 SMARCA2 SMARCD2 SMC1A SMC3 SMC5 SMG8 SMG9 SMOC1 SMS SNAP25 SNRPB SOD1 SON SOS1 SOS2 SOX11 SOX4 SOX5 SOX6 SOX9 SPART SPECC1L SPEN SPINT2 SPOP SPRED1 SPRED2 SRCAP SRD5A3 SRY STAC3 STAG1 STAG2 STAMBP STRA6 STX1A STXBP1 SUFU SUPT16H SUZ12 SYT2 TAB2 TAF1 TALDO1 TAOK1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCE TBL2 TBR1 TBX1 TBX15 TBX2 TCF20 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TFAP2B TGDS THUMPD1 TMCO1 TMEM107 TMEM138 TMEM147 TMEM165 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TMEM94 TOE1 TOGARAM1 TOPORS TPM2 TPM3 TRAF7 TREX1 TRIM32 TRIP11 TRIP12 TRIP13 TRPS1 TRPV4 TRPV6 TRRAP TSPEAR TSR2 TTC26 TTC5 TTC8 TUBB TUBB3 TWIST1 TWIST2 TXNDC15 UBA2 UBE3B UBE4B UBR7 UFC1 UFD1 UGP2 UMPS UNC80 UPF3B USP7 USP9X VAC14 VAMP1 VANGL2 VARS1 VIPAS39 VPS33B VPS35L VPS37D WARS2 WASHC4 WASHC5 WBP11 WDPCP WDR35 WDR37 WDR73 WNT3 WNT4 WNT5A WNT7A WNT7B WNT9B XYLT1 XYLT2 YWHAE YY1 ZBTB18 ZBTB24 ZC4H2 ZDHHC9 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF292 ZNF423 ZNF462 ZNF699 HP_LOW_SET_NIPPLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_NIPPLES AARS1 CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 H3-3A KAT6A MPLKIP PIGL RNF113A TARS1 HP_LOW_SET_POSTERIORLY_ROTATED_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_POSTERIORLY_ROTATED_EARS ACAN ACTG2 AFF4 AHI1 ALG9 ALX1 ALX3 ARID1B ARL6 ASXL1 B3GLCT B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BRAF BRD4 BUB1 BUB1B BUB3 BUD23 C2CD3 CAMKMT CANT1 CASZ1 CBL CC2D2A CD96 CDC42 CEP120 CEP19 CEP290 CEP41 CEP57 CFAP418 CHD7 CHST14 CLIP2 COG1 CPLANE1 CPLX1 CSGALNACT1 CSPP1 CTBP1 CTCF CTNND2 DHCR24 DHCR7 DHODH DLK1 DLL3 DNAJC30 DSE EDN1 EED EIF4H ELN ERMARD EXT1 EZH2 FAM149B1 FGD1 FGFR1 FKBP6 FLI1 FRAS1 FREM2 FRMD4A GABRD GBA1 GLE1 GLI3 GNAI3 GPC3 GPC4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HBA1 HBA2 HDAC8 HERC1 HES7 HOXD13 HRAS HSPG2 HYLS1 IFT172 IFT27 IFT74 INPP5E ITCH KAT6A KCNAB2 KIAA0586 KIAA0753 KIF7 KRAS LETM1 LFNG LIG4 LIMK1 LUZP1 LZTFL1 LZTR1 MAP2K1 MAP2K2 MAPRE2 MEG3 MESP2 METTL27 MGAT2 MKKS MKS1 MLXIPL MMP23B MRAS MVK NAA10 NALCN NCF1 NELFA NF1 NIPBL NPHP1 NRAS NSD1 NSD2 NSUN2 NXN OCRL OFD1 OTX2 PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGG PIGN PLAA PLCB4 PNPLA6 PPM1B PPP1CB PRDM16 PREPL PRKCZ PRRX1 PTPN11 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RASA2 RBM10 RBM8A RERE RFC2 RIPPLY2 RIT1 RMRP ROR2 RPGRIP1 RPGRIP1L RRAS RRAS2 RTL1 RTTN SCAPER SCLT1 SDCCAG8 SEMA3E SEMA5A SF3B4 SHOC2 SKI SLC25A24 SLC26A2 SLC3A1 SMC1A SMC3 SMOC1 SOS1 SOS2 SPEN SPRED2 SRY STX1A SUZ12 TBC1D20 TBCE TBL2 TBR1 TCTN1 TCTN2 TCTN3 TFAP2A TGDS TMCO1 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TOPORS TRIM32 TRIP13 TRPS1 TRPV4 TTC8 TUBB TXNDC15 UBE4B UMPS UNC80 USP9X VPS37D WDPCP XYLT1 ZNF423 HP_LUMBAR_HYPERLORDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_HYPERLORDOSIS ABCC9 ACAN ACP5 ADAMTS10 ALG14 ALG2 ALX3 AP1G1 ARSB ASH1L BCOR BGN CFL2 CHST11 CHST3 CLCF1 COL10A1 COL11A2 COL12A1 COL27A1 COL2A1 COL6A1 COL6A2 COL6A3 COMP DAG1 DDRGK1 DMD DPAGT1 DYM EXTL3 FBN1 FGFR3 FKRP FN1 FUCA1 GARS1 GFPT1 GMPPB GSC HACE1 HERC1 HSPG2 IHH ITCH KY LIPE LMX1B LTBP1 MATN3 MED12 MFN2 MYBPC1 MYH7 MYPN NAA10 NPR2 NSDHL OBSL1 PCGF2 PIEZO2 PLEC POLR3GL POMGNT1 POMK POMT1 POMT2 PRG4 PRKG2 RAB3GAP2 RERE RMRP RYR1 SATB2 SETBP1 SGCG SHOX SLC26A2 SMARCAL1 SON SOX5 SYT1 TMEM63C TOGARAM1 TONSL TPM2 TPM3 TRAPPC2 TRPV4 VAC14 VCP VPS13B VPS33A XYLT1 HP_LUMBAR_KYPHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_KYPHOSIS ATG7 COL2A1 FGFR3 GALNS POLR3GL RPS6KA3 SLF2 VPS33A HP_LUMBAR_SCOLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_SCOLIOSIS ALMS1 AP1G1 ASH1L ATG7 ATP6V1B2 COL2A1 GNPTAB HYAL1 IDH1 LONP1 NIN PAPSS2 PLK4 RPL10 SLC35B2 TBC1D24 HP_LUPUS_ANTICOAGULANT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUPUS_ANTICOAGULANT ADA2 IRAK1 SAT1 SPP1 STAT4 TNFAIP3 HP_LYMPHADENITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHADENITIS CXCR4 CYBA CYBB CYBC1 IL12RB1 IRF8 MVK MYD88 NCF1 NCF2 RAC2 RAG1 RAG2 RBCK1 STAT2 ZAP70 HP_LYMPHANGIECTASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIECTASIS ADAMTS3 CCBE1 CD55 FAT4 FOXF1 HRAS MPI PIEZO1 SOX18 HP_LYMPHANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIOMA ADAMTS3 AKT1 CCBE1 COL18A1 FAT4 IDH1 IDH2 PAK2 PTEN PTH1R HP_LYMPHEDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHEDEMA ABCC9 ADAMTS3 AKT1 ANGPT2 ANTXR2 BCL2 BCL6 BRAF CBL CCBE1 CDC42 CDK5 CELSR1 CTNNB1 DCHS1 DNMT1 EPHB4 FAT4 FLT4 FOXC2 FZD4 GATA2 GJC2 GLA GUSB HLA-DRB1 HRAS IKBKG INPPL1 KIF11 KIF7 KRAS LBR LRP5 LZTR1 MAP2K1 MAP2K2 MAPK1 MDFIC MRAS NAA10 NAGA NDP NLRP3 NRAS PIEZO1 PIK3CA PMM2 PTEN PTPN11 PTPN14 RAF1 RASA1 RASA2 RELN RIT1 RRAS RRAS2 SHANK3 SLC35D1 SOS1 SOS2 SOX18 SPG11 SPRED2 THSD1 TIE1 TSC1 TSC2 TSPAN12 VEGFC XYLT2 ZNF408 HP_LYMPHOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOCYTOSIS ARPC1B BTNL2 CARD11 CASP10 EIF2AK3 ELF4 FAS FASLG FOCAD HLA-DRB1 IKBKG IL7R KRAS LMNB2 NCKAP1L NFKBIA NRAS PRKCD PTPRC RASGRP1 REL RNASEH2B SH2D1A XIAP ZAP70 HP_LYMPHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOMA AAGAB ADA APC ASXL1 ATM BCL10 BCL2 BCL6 BIRC3 BLM CASP10 CCND1 CD19 CD27 CD28 CD70 CD81 CDKN2A CHD7 CHEK2 COL14A1 CR2 CTC1 CTLA4 DCLRE1C DDX41 DEF6 DIAPH1 DKC1 DNASE1L3 FAS FASLG FCHO1 FOXP1 HAVCR2 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IGHG2 IGKC IKZF3 IL2RG IL6ST IL7R IRF2BP2 ITK KIF11 KIT KLHDC8B KRAS LIG4 LRBA MAGT1 MALT1 MDM2 MLH1 MS4A1 MSH6 MYC MYD88 NBN NFATC2 NFKB1 NFKB2 NHP2 NOP10 NPM1 NRAS NSUN2 NTHL1 PARN PGM3 PIK3CD PIK3R1 PMS2 PNP POLE PRF1 PRKCD PTEN PTPRC RAD54B RAD54L RAG1 RAG2 RASGRP1 RB1 RECQL4 RHOH RMRP RNF43 RTEL1 RUNX1 SH2D1A SMARCAL1 SOCS1 SRSF2 STAT3 STK4 SYK TCF4 TERC TERT TET2 TINF2 TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF9 TNFSF12 TP53 TP63 TTC7A TYMS USB1 WAS WIPF1 WRAP53 XIAP XRCC4 ZAP70 HP_LYMPHOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPENIA ACP5 ADA ADA2 ADAMTS3 AK2 ALG12 AP1S3 ARHGEF1 ATM ATP11A ATRX B2M BCL11B BRAF BTK CASP10 CCBE1 CD19 CD247 CD3D CD3E CD3G CD79A CD79B CD81 CD8A CDCA7 CDH23 CHD7 CIITA CLPB CORO1A CR2 CTLA4 CTNNBL1 CTPS1 CXCR4 CYBC1 DCLRE1B DCLRE1C DEF6 DNMT3B DOCK2 DOCK8 ELANE EPG5 EXTL3 FAS FASLG FAT4 FCHO1 FNIP1 FOXN1 G6PC3 GATA2 GFI1 GINS1 GTF2H5 HELLS ICOS IFIH1 IGHM IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL2RA IL2RG IL36RN IL6ST IL7 IL7R IRAK1 IRF2BP2 ITK IVNS1ABP JAK3 KNSTRN LAT LBR LCK LEP LEPR LRBA MAGT1 MCM10 MDM4 MS4A1 MSN MTHFD1 MYC MYD88 MYSM1 NAE1 NAF1 NBN NCAPG2 NFKB1 NFKB2 NHEJ1 NR3C1 NSMCE3 PGM3 PI4KA PIK3CD PIK3CG PIK3R1 PNP POMP PRIM1 PRKCD PRKDC PSMB4 PSMB9 PTEN PTPRC RAC2 RAG1 RAG2 RASGRP1 REL RFX5 RFXANK RFXAP RIPK1 RMRP RPA1 RRAS2 SAMD9 SASH3 SAT1 SGPL1 SKIC2 SKIC3 SLC39A7 SMARCAL1 SP110 SPI1 SPP1 SPRED2 SRP19 SRP54 STAT1 STAT2 STAT4 STING1 STK4 SYK TBX2 TCF3 TCIRG1 TCN2 TERC TERT TFR2 TINF2 TLR7 TLR8 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF9 TNFSF12 TOM1 TP53 TPP2 TRNT1 TTC7A TTI2 UNC119 USP48 USP8 WAS WDR1 WIPF1 XRCC4 ZAP70 ZBTB24 HP_LYMPHOPROLIFERATIVE_DISORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPROLIFERATIVE_DISORDER ADA2 CD27 CD70 CTPS1 IL2RG ITK KRAS LRBA MAGT1 MCM4 MYD88 NRAS PRKCD SMARCAL1 STK4 WAS ZAP70 HP_LYMPH_NODE_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPH_NODE_HYPOPLASIA BTK DCLRE1C EPHB4 IL2RG PNP HP_MACROCEPHALY_AT_BIRTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCEPHALY_AT_BIRTH BIN1 DNM2 FOCAD MTMR14 MYF6 ODC1 PIGN RYR1 SLC16A2 HP_MACROCYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCYTIC_ANEMIA ADA2 ALAS2 AMN CBLIF CDAN1 COX10 CUBN DHFR DNAJC21 DNM1L EFL1 FTCD GATA1 HEATR3 HLA-DQA1 HLA-DQB1 HPRT1 KCNN4 KIF23 LARS1 LMBRD1 MMACHC MMADHC MTHFD1 MTR MTRR OPA1 PHGDH PIEZO1 PRDX1 PSMC1 RAC2 RACGAP1 RHAG RHCE RHD RMRP RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS SFXN4 SLC19A1 SLC19A2 SLC46A1 SLC4A1 SRP54 TCN2 TET2 TPI1 TSR2 UBA1 UMPS WFS1 HP_MACRODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODACTYLY AIP AKT1 GPR101 PIK3CA PTEN HP_MACRODONTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA ABCC9 ANKRD11 ATP6V1B2 BRCA1 BRF1 CACNA1I CDK10 COL11A1 CTCF DHX37 FARS2 GJA1 GRIA3 IRF6 KCNK9 KCNMA1 MAPK8IP3 MBD5 MGAT2 MSX1 NECTIN1 PACS2 PQBP1 PURA SMOC1 TBC1D24 TP63 VPS13B VPS51 HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR ATP6V1B2 BRF1 CACNA1I COL11A1 CTCF FARS2 GJA1 GRIA3 KCNMA1 PACS2 TBC1D24 VPS13B HP_MACROGLOSSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGLOSSIA ABCC8 ACTB AFF4 AGA AGPAT2 AIP AKT1 ALG3 ALG6 ALG8 AMPD2 ARID1A ARSB ATP6V1B2 ATRX BAZ1B BCL7B BSCL2 BUD23 CAV1 CAVIN1 CCDC47 CDCA7 CDKN1C CLIP2 CPSF3 CRPPA CUL4B DLK1 DNAJC30 DNMT3B DUOX2 DUOXA2 DVL1 EHMT1 EIF4H ELN ERLIN2 FDX2 FIBP FKBP6 FKRP FOS FOXE1 FOXG1 FUCA1 GAA GATA1 GLB1 GMPPB GNE GNPTAB GNS GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUSB HELLS HESX1 HEXB HNRNPK HRAS HS2ST1 HYMAI IDS IDUA IFT140 IGF2 IL6ST INPP5E INSR IPO8 IYD KCNH1 KCNJ11 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KLLN LAMA2 LARGE1 LHX3 LHX4 LIMK1 LIMS2 MAN2B1 MAN2C1 MBD5 MED13L MEG3 METTL27 MLXIPL MT-TE NCF1 NEK9 NKX2-1 NKX2-5 PAX8 PEX1 PIGS PIGW PIK3C2A PIK3CA PLAGL1 POMGNT1 POMK POMT1 POMT2 POP1 POU1F1 PPARG PQBP1 PRKAG2 PROP1 PSMB8 PTEN RFC2 RMRP RNF125 ROR2 RTL1 SDHB SDHC SDHD SEC23B SETBP1 SGCG SLC26A4 SLC5A5 SMARCA4 SMARCB1 SNIP1 SNRPN SNX14 STX1A TBCK TBL2 TG THRA TMEM270 TPO TRAF3IP2 TRMU TSHB TSHR UBE3A USF3 VPS33A VPS37D WNT5A ZBTB24 ZFP57 HP_MACROGYRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGYRIA ACTB ACTG1 B3GALNT2 B4GAT1 CASK COL4A1 CRPPA DAG1 DHCR24 FKRP FKTN LARGE1 NFIX PEX2 PLP1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 HP_MACROORCHIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROORCHIDISM AGA AKT1 ARX CLIC2 CYP19A1 FMR1 GNAS H4C5 IL1RAPL1 LHCGR MECP2 MED12 NF1 PDE11A PRKAR1A PTEN RBMX TSHB UPF3B ZDHHC9 HP_MACROSCOPIC_HEMATURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROSCOPIC_HEMATURIA APRT CD81 F8 GP1BA GP1BB GP9 HPRT1 ITGA2B ITGB3 HP_MACROTHROMBOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTHROMBOCYTOPENIA DIAPH1 GATA1 GFI1B GP1BA GP1BB GP9 ITGA2B MYH9 PRKACG SLC35A1 TUBA8 TUBB1 HP_MACROTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTIA ADAMTSL1 ADAT3 AEBP1 AGO1 AGPAT2 AHSG AIP AKT1 ALDH18A1 ALG3 ALG9 ALKBH8 ANKRD11 AP1S2 AP3D1 ASNS ATP6V1A ATP6V1B2 BAZ1B BCL7B BMP4 BRAF BRD4 BRWD3 BSCL2 BUD23 CA2 CACNA2D1 CASK CBL CENPE CEP120 CHRNA1 CHRNA7 CHST14 CIT CLCN3 CLIC2 CLIP2 COLEC10 COLEC11 CPE CTU2 CWC27 DDB1 DENND5A DHX30 DNAJC30 DPF2 DPYSL5 DSE DYRK1A EED EIF2S3 EIF4H ELN ERCC1 ERCC2 ERCC4 ERCC6 ERCC8 EYA1 EZH2 FAR1 FDFT1 FGFR2 FIBP FKBP6 FLNA FMR1 FTSJ1 GLB1 GLI2 GNB2 GON7 GPR101 GRIA3 GRIA4 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HDAC8 HECTD4 HECW2 HERC1 HHAT IDH1 INSR IPO8 IQSEC2 ITGA3 ITGB6 JAG1 KANSL1 KATNB1 KCNH1 KCNJ1 KCNMA1 KCNN3 KDM4B KDM5C KDM6A KDM6B KIF1A KIFBP KMT2D KRAS LAGE3 LIMK1 LMBRD2 LSS MAN1B1 MAN2B1 MAP2K1 MAP2K2 MASP1 MBTPS1 MBTPS2 MECP2 MED13L METTL27 METTL5 MGAT2 MGP MID2 MINPP1 MLXIPL MMACHC MPLKIP NAA10 NALCN NARS1 NBN NCF1 NDE1 NDP NECTIN1 NEXMIF NHS NIPBL NSD1 NUP107 NUP133 ODC1 OPHN1 OSGEP OTUD6B PACS1 PAK3 PAX1 PCLO PGAP1 PHF6 PHGDH PHIP PIEZO2 PIGN PIK3R1 PLCH1 PMM2 POLR1A PPP1CB PPP1R15B PQBP1 PRDX1 PRUNE1 PSMB8 PTCH1 PTDSS1 PTEN PYCR2 QRICH1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RBMX RDH11 RFC2 RHOBTB2 RMRP RPL10 SALL1 SET SHANK3 SHOC2 SIN3A SLC12A6 SLC16A2 SLC2A1 SLC2A10 SLC6A17 SLC9A6 SMARCA2 SMC1A SMC3 SMG8 SNAP29 SOX6 SSR4 STEEP1 STX1A SUOX SUZ12 SYNE1 SYNGAP1 TAF1 TAFAZZIN TAPT1 TBC1D20 TBC1D23 TBCD TBL1XR1 TBL2 TBX22 TENM3 THOC2 TMEM270 TNPO2 TOE1 TOR1A TP53RK TPRKB TRAPPC9 TRIO TRMT10A TRPS1 TTI2 UBE2A VPS37D WDR4 WDR73 YME1L1 YRDC ZBTB20 ZIC2 ZNF526 ZNF668 ZNF699 ZNF711 ZNHIT3 HP_MACROVESICULAR_HEPATIC_STEATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROVESICULAR_HEPATIC_STEATOSIS CPT2 CYP7A1 DOCK2 EARS2 LIG3 LYRM4 MICOS13 MPV17 MTX2 NAA10 NDUFAF1 POLG RRM2B SLC25A13 TRMU TYMP VPS33A HP_MACULAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_ATROPHY AIPL1 ARL2BP ATF6 C1QTNF5 CFAP418 CFH CFI CNNM4 DHX38 DRAM2 EFEMP1 ELOVL4 EPG5 GBA1 GUCA1A GUCY2D HK1 HLA-A IFT140 KCNV2 LZTFL1 MAPKAPK3 MERTK NMNAT1 NRL PCYT1A PLK4 PRPF31 PRPH2 RAX2 RDH5 RHO RLBP1 RP9 RS1 SH3BP2 SIX6 SLC24A1 SLC6A6 TNFRSF11B UNC119 WDR19 YARS1 HP_MACULAR_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_COLOBOMA CLDN19 CRB1 DHX38 LCA5 LRAT MMACHC NMNAT1 PRPS1 RPE65 SPATA7 TENM3 HP_MACULAR_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DEGENERATION AARS1 ABCA4 ABCC6 AIPL1 ALDH3A2 ANO10 APOE ARL2BP ASAH1 ATF6 ATXN7 BEST1 C1QTNF5 C9 CARS1 CDH3 CEP78 CFAP418 CFH CFHR1 CFHR3 CFI CLN3 CNGB1 CNGB3 CNNM4 COL18A1 CP CST3 DHX38 DRAM2 EFEMP1 ELOVL4 EPG5 ERCC2 ERCC3 FBLN1 FBLN5 FBN2 GBA1 GRK1 GTF2E2 GTF2H5 GUCA1A GUCA1B GUCY2D HK1 HLA-A HMCN1 HTRA1 IFT140 KCNV2 LIG3 LZTFL1 MAPKAPK3 MERTK MPLKIP NMNAT1 NR2E3 NRL PAK2 PAX2 PCYT1A PITPNM3 PLK4 PPT1 PRCD PROM1 PRPF31 PRPF4 PRPH2 RAX2 RDH5 RHO RLBP1 RNF113A RP1L1 RP9 RPGR RPGRIP1 RS1 SAG SCAPER SEMA4A SH3BP2 SIX6 SLC24A1 SLC6A6 SPG11 TARS1 TNFRSF11B TRAF3IP1 TTC8 UNC119 WDR19 XYLT1 XYLT2 YARS1 ZFYVE26 ZNF513 HP_MACULAR_DRUSEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DRUSEN APOE CFH CFHR1 CFHR3 CFI EFEMP1 HMCN1 UNC119 HP_MACULAR_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DYSTROPHY BBS5 BEST1 CCNQ CDH3 CFH CFI CHST6 EFEMP1 ELOVL4 IMPG1 IMPG2 MFSD8 MT-TE MT-TK MT-TL1 MYO5A PEX1 PROM1 PRPH2 RP1L1 SYCE1 TIMP3 HP_MACULAR_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_EDEMA ARHGEF18 ARL3 CCND1 CTNNB1 CYP4V2 DHDDS FZD4 HLA-A IDH3A KIAA1549 KLHL7 LRP5 MFRP NDP NOD2 NR2E3 NRL PDE6G POMGNT1 PRPF31 PRPF8 PRPH2 RDH5 REEP6 RHO RLBP1 RP1L1 RP9 TREX1 TSPAN12 VHL ZNF408 HP_MACULAR_HYPERPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPERPIGMENTATION ADAR CFH CFI CRX EFEMP1 PAX2 HP_MACULAR_HYPOPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPIGMENTATION ADAR IFT74 MC1R NMNAT1 OCA2 HP_MACULAR_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPLASIA ATOH7 COL18A1 DPYD EBP EPG5 FZD4 HMX1 HPS6 LAMB2 LYST MAF MPDZ NDP PAX6 SLC45A2 HP_MACULAR_PURPURA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_PURPURA AIP APOE ATRX BCOR BRAF CALR CASP10 CD109 CDH23 CHST14 CLCN7 COL1A1 COL3A1 COL5A1 COL5A2 DCLRE1B DPP9 ETHE1 ETV6 F13A1 F13B F2 F8 FCGR2C FERMT3 FIP1L1 FUCA1 FYB1 GATA1 GBA1 GFI1B GGCX GIMAP5 GNA14 GP1BA GP1BB GP6 GP9 HCK HOXA11 HPS1 HPS6 IFNG IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 LCP2 MPL NABP1 NAGA NEU1 NPM1 NR3C1 NUMA1 OCLN P2RY12 PEPD PML PRF1 PRKAR1A RAB27A RARA SAMD9 SBDS STAT3 STAT5B STX11 STXBP2 TBL1XR1 TBXA2R TERC TERT TET2 TP53 TREX1 UNC13D USP18 USP48 USP8 VWF WAS WIPF1 ZBTB16 HP_MACULAR_SCAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_SCAR CFI HLA-A NMNAT1 SH3BP2 TNFRSF11B HP_MACULAR_THICKENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_THICKENING APC ARHGEF18 ARL3 C1QTNF5 CCND1 CTNNB1 CYP4V2 DHDDS FZD4 HGSNAT HLA-A IDH3A KIAA1549 KLHL7 LRP5 MFRP NDP NF2 NLRP3 NOD2 NR2E3 NRL OAT PDE6G POMGNT1 PRPF31 PRPF8 PRPH2 RDH5 REEP6 RHO RLBP1 RP1L1 RP9 TREX1 TRNT1 TSPAN12 VHL ZNF408 HP_MACULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULE ABCB6 ABCC9 ACP5 ACTB ADAM10 ADAR AKT1 ANAPC1 ANKLE2 APC ARL6IP6 ATM ATP2A2 BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C1R C1S CASZ1 CBL CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEP57 CIB1 CLCN7 COL17A1 COL25A1 COL3A1 COPB1 CREBBP CSTA CTC1 CWC27 CYBA CYBB CYBC1 DDB2 DDX11 DHX30 DKC1 DNAJC21 DPP9 DSTYK ELOVL4 ENPP1 EP300 EPHB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR3 GABRD GJA1 GJB3 GJB4 GNA11 GNAQ GNAS GNB2 GPNMB H4C5 HEPACAM HLA-B HLA-DQB1 HLA-DRB1 HMGA2 HSPG2 IFNG IGF1 IGF2 IKZF1 IL6 IL7 INSR KANSL1 KCNAB2 KDM5C KDM6A KDM6B KDSR KIT KITLG KLLN KMT2D KRAS KRT14 KRT5 LMNA LUZP1 LZTR1 MAD2L2 MAN1B1 MAP2K1 MAP2K2 MAPK1 MAX MED12 MEN1 MLH1 MMP2 MMP23B MSH2 MSH6 MTOR NBN NCF1 NCF2 NCF4 NF1 NF2 NHP2 NONO NOP10 NPM1 NRAS PALB2 PARN PCNT PDE11A PDPN PHIP PIGN PIK3CA PLAG1 PLEC PLXND1 PMS2 POFUT1 POGLUT1 POLE PORCN PPP1CB PRDM16 PRKAR1A PRKCD PRKCZ PSENEN PTEN PTPN11 RAD51 RAD51C RAF1 RASA1 RBBP8 RERE RET REV3L RFWD3 RFX7 RTEL1 SASH1 SDHB SDHC SDHD SEC23B SET SETBP1 SH3PXD2B SHOC2 SKI SKIC2 SKIC3 SLC9A1 SLF2 SLX4 SMARCA2 SMARCAD1 SMARCAL1 SNAI2 SOX10 SPECC1L SPEN SPRED1 ST3GAL5 STEAP3 STK11 SVBP TERC TERT TGM5 TINF2 TMC6 TMC8 TMEM127 TNFRSF1A TOP3A TP53RK TP63 TRIP13 TSC1 TSC2 TWIST2 TYMS UBE2T UBE4B UBR1 USB1 USF3 VHL WASF1 WBP11 WRAP53 XPA XPC XRCC2 ZFHX4 ZMPSTE24 HP_MADELUNG_DEFORMITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MADELUNG_DEFORMITY COG4 GDF5 GJA1 NIN SHOX HP_MALABSORPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALABSORPTION ABCB11 ABCB4 ACOX2 ADAMTS3 AGA AIRE AK2 AKR1D1 AMACR ANTXR2 APC APOB ARX ASXL1 ATP7A ATP8B1 BAZ1B BCL7B BLNK BMPR1A BTK BUD23 C4A CALR CAV1 CBL CCBE1 CCDC47 CCN2 CCR1 CCR6 CD55 CD79A CD79B CDCA7 CEACAM3 CEACAM6 CFTR CIITA CISD2 CLCA4 CLIP2 CLMP CLTRN COX4I2 CTC1 CTNNB1 CTRC CYBA CYBB CYBC1 CYP7B1 DCTN4 DKC1 DMP1 DNAJC21 DNAJC30 DNMT3B DSG1 DZIP1L EDNRA EFL1 EIF4H ELN ENPP1 EPCAM ERAP1 ERCC2 F5 FAN1 FAS FAT4 FCGR2A FKBP6 FLNA FOXP3 GCLC GLA GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HELLS HFE HLA-B HLA-DQA1 HLA-DQB1 HLA-DRB1 HMOX1 HPGD HSD3B7 HYOU1 IFNGR1 IGHM IGLL1 IL10 IL12A IL12A-AS1 IL23R IRF4 IRF5 JAK2 KCNN4 KDM6A KLRC4 KMT2D KRAS LBR LCT LIG4 LIMK1 LIPA LPIN2 LRRC8A MADD MCM6 MEFV METTL27 MIF MLH1 MLH3 MLXIPL MPI MSH2 MSH6 MT-TE MT-TK MT-TL1 MTOR MTTP MYD88 NCF1 NCF2 NCF4 NEUROG3 NHP2 NOP10 NPM1 NSUN2 OCRL PARN PCSK1 PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM3 PIK3CA PIK3R1 PKHD1 PMM2 PMS1 PMS2 PNLIP POLG PRSS1 PRSS2 PTF1A PTRH2 RECQL4 RFC2 RFX5 RFX6 RFXANK RFXAP RMRP RPS20 RTEL1 RUNX1 SAA1 SAR1B SATB1 SBDS SEMA4A SERPINA1 SH3KBP1 SHPK SI SLC10A2 SLC11A1 SLC26A9 SLC29A3 SLC2A2 SLC39A4 SLC39A7 SLC46A1 SLC51B SLC5A1 SLC6A14 SLC6A19 SLC7A7 SLC9A3 SLCO2A1 SPI1 SPINK1 SPINK5 SRP54 SRSF2 STAT4 STX1A TBL2 TCF3 TERC TERT TET2 TGFB1 TGFBR2 TINF2 TJP2 TLR4 TMEM270 TREH TRMT5 TYMP TYMS UBAC2 UBR1 USB1 VPS37D WFS1 WRAP53 XRCC4 ZBTB24 HP_MALAR_FLATTENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_FLATTENING ACAN ACSL4 ADAMTSL4 AGL AIFM1 AMMECR1 APC ARID1B ARVCF ASPH ASXL3 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 BBS7 BCR BGN BLM BMP2 BUB1B CANT1 CCBE1 CDH11 CHD7 CNOT3 COG4 COL11A1 COL11A2 COL1A1 COL2A1 COL5A1 COL9A1 COL9A2 COL9A3 COMT CRKL CUL7 DCHS1 DDR2 DHODH DLG3 DNMT3B DVL1 EBP EFTUD2 EHMT1 ELN ERF ESCO2 FAM20C FAM50A FAT4 FBN1 FGFR1 FGFR2 FGFR3 FLNA FLNB FOXC1 FOXP1 FZD2 GATA1 GJA5 GJA8 GLI2 GORAB GP1BB GPC6 GRIA3 GSC HBA1 HBA2 HDAC4 HERC1 HIRA HNRNPH1 HS6ST2 HSPG2 INPPL1 IPO8 JMJD1C KCNE5 KCNH1 KCNJ2 KIF1A KIF22 KIF7 LARP7 LIFR LMNA LRP2 LRP4 LRPPRC LTBP4 MAF MAN1B1 MAN2B1 MAPK1 MBD5 MECP2 MED12 MGP MLXIPL MYH3 NDP NECTIN1 NF1 NGF NONO NOTCH2 NOTCH3 NPR3 NSDHL NTRK1 OBSL1 PAX3 PCGF2 PDE4D PDZD8 PEX1 PEX12 PEX7 PIGA PIGT PIGU PIGV PIK3R1 PLOD3 POGZ POLE POLR1B POLR1C POLR1D POLR3A POMGNT1 POR POU1F1 PQBP1 PRMT7 PSMC3 PTH1R PYCR1 PYCR2 RAB23 RAB3GAP1 RAB3GAP2 RAI1 RBM8A RDH11 RFX7 RHOA RLIM RNU12 RNU4ATAC ROR2 RPS26 RREB1 RSPRY1 RUNX2 SATB2 SCARF2 SEC23A SEC24C SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SHANK3 SHH SIX3 SLC26A2 SLC2A10 SLC35D1 SLC6A8 SMAD3 SMAD4 SNRPB SOST SP7 STAG2 TAT TBL1XR1 TBX1 TBX22 TBX4 TCOF1 TFAP2A TFAP2B TFE3 TGDS TGFBR1 TGFBR2 TMEM165 TMEM237 TONSL TP63 TWIST1 UBE2A UFD1 WNT5A YY1 ZBTB20 ZNHIT3 HP_MALAR_PROMINENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_PROMINENCE CTDP1 HBB HDAC8 LAS1L NBN NSMCE2 XRCC4 HP_MALAR_RASH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_RASH BANK1 BLK BLM C1QB C4A C4B CASP10 CDK10 CR2 CTLA4 DNASE1 ETS1 FCGR2A FCGR2B FCGR3B HLA-DRB1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L MECP2 PDCD1 PTPN22 PXK SAT1 SPP1 STAT4 STING1 TLR7 TNFAIP3 TNFSF4 TNIP1 TOP3A TREX1 UBE2L3 HP_MALE_HYPOGONADISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_HYPOGONADISM ABCD1 AIP AIRE ANAPC1 CDH23 CHD7 CISD2 CTNS CYP17A1 DHH DUSP6 EIF2S3 ERCC1 ERCC4 ERCC6 ERCC8 FGF17 FGF8 FGFR1 FSHB GNRH1 GNRHR HS6ST1 IFT172 KISS1 KISS1R LHB MECP2 MEN1 NHLH2 NR0B1 NR5A1 NSMF POLA1 POLD1 PROK2 PROKR2 SOX3 SOX9 SPRY4 SRY TAC3 TACR3 WDR11 WFS1 HP_MALE_PSEUDOHERMAPHRODITISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_PSEUDOHERMAPHRODITISM AKR1C2 AKR1C4 AMH AMHR2 AR ATRX B9D1 B9D2 CBX2 CC2D2A CEP290 COX7B CSPP1 CYB5A CYP11A1 CYP17A1 DHH DHX37 DMRT1 HCCS HHAT HSD17B3 HSD3B2 MAP3K1 MKS1 MNX1 NDUFB11 NR0B1 NR5A1 RPGRIP1 RPGRIP1L SOX9 SRY TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WT1 HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM AAGAB AKT1 APC AR BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDC73 CDH1 CDKN1B CDKN2A CHEK2 COL14A1 CYP11B1 DHX37 DICER1 DMRT3 EPHB2 EWSR1 FLI1 FOXE1 GATA4 GREM1 IGF2 KANSL1 KEAP1 KLF6 MAD1L1 MAP3K1 MC2R MDM2 MRAP MRE11 MXI1 NAB2 NBN NNT NR0B1 NR5A1 NTHL1 PALB2 PDE11A PRKAR1A PTEN RAD50 RAD51 RAD51C RAD51D RNASEL RNF43 SOX9 SRY STAR STAT6 STK11 STS TP53 TXNRD2 VAMP7 WT1 WWOX ZFHX3 ZFPM2 HP_MALE_SEXUAL_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_SEXUAL_DYSFUNCTION ABCD1 AIP AKT1 ANOS1 AR ATXN8OS BAP1 BMP2 BMP6 CACNA1G CCDC141 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COQ2 DCC DNAJC6 DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 GALC GNRH1 GNRHR GPR101 GUCY1A1 HAMP HBB HESX1 HEXB HFE HJV HS6ST1 HTRA2 IL17RD IRF4 KISS1 KISS1R LMNB1 LRRK2 MEN1 NDNF NDP NF2 NHLH2 NSMF PARK7 PDGFB PIGA PIK3CA PINK1 PODXL PRKN PROK2 PROKR2 RTN2 SACS SEMA3A SLC40A1 SMARCB1 SMARCE1 SMO SNCA SOX10 SPRY4 SUFU SYNJ1 TAC3 TACR3 TERT TFR2 TRAF7 TTR UBAP1 UCHL1 VPS13C WDR11 HP_MALFORMATION_OF_THE_HEPATIC_DUCTAL_PLATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALFORMATION_OF_THE_HEPATIC_DUCTAL_PLATE B9D2 DCDC2 IFT122 MKS1 NEK8 NPHP3 TMEM67 ZFYVE19 HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR ADA2 BLM GATA1 HEATR3 MLH1 MSH2 MSH6 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TSR2 HP_MALIGNANT_HYPERTHERMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_HYPERTHERMIA ABCA12 ATP2A1 BIN1 CACNA1S CHRNA1 CHRND CHRNG CLCF1 CRLF1 DNM2 EDAR EDARADD ELP1 HSPG2 KDF1 MTMR14 MYF6 MYH3 NALCN PGM1 RYR1 SCN4A SCN5A STAC3 TRAF6 TRAPPC9 HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM APC APC2 ASCL1 ASXL1 BDNF BMPR1A BRAF BRCA2 BRD4 CASZ1 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 CTNNB1 DICER1 EDN3 ELP1 EPCAM ERBB2 FAN1 FGFR1 GABRD GDNF GPC3 GPC4 GPR161 HSPG2 IDH1 IDH2 IFNG KCNAB2 KEAP1 KIF1B KRAS LBX1 LUZP1 MAPRE2 MDM2 MEN1 MLH1 MLH3 MMP23B MSH2 MSH3 MSH6 MYO1H NBN NF1 NF2 NSD1 NUTM1 PALB2 PDPN PHOX2B PIK3CA PMS1 PMS2 POT1 PRDM16 PRKCZ PTCH1 PTCH2 PTEN PTPN11 RAF1 RELA RERE RET RPS20 RUNX1 SDHB SEMA4A SETBP1 SETD2 SKI SMARCB1 SMO SPEN SPRED1 SUFU TGFBR2 TP53 TSC1 TSC2 TUBB UBE4B YY1 ZFTA HP_MALNUTRITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALNUTRITION ACTG2 ALDOB ARHGAP29 ARHGEF38 ATP6V0A1 BMP4 CDH1 COBLL1 COL7A1 COX4I2 CRLF1 CTRC DLG1 DLX4 DNAJC21 EFL1 FOCAD GET4 HLA-DQA1 HLA-DQB1 IRF6 LAMA3 LAMB3 LAMC2 LIPA LMNB1 MMP1 MSX1 MYO5B NECTIN1 NOS1 PDGFRA POLG RIC1 SAA1 SAR1B SBDS SLC5A1 SLC7A7 SPINK1 SRP54 TP63 TYMP HP_MALROTATION_OF_SMALL_BOWEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALROTATION_OF_SMALL_BOWEL CHST14 CPLX1 CTBP1 DSE FGFRL1 KAT6B LETM1 NSD2 WNT4 HP_MANDIBULAR_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_APLASIA CDC45 CDC6 CDT1 COX7B FAM20C GMNN HCCS NDUFB11 ORC1 ORC4 ORC6 OTX2 PRRX1 HP_MANDIBULAR_PROGNATHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_PROGNATHIA ACAN ACTA1 ADAMTSL1 ADAMTSL4 AFF3 AGA AGPAT2 AIMP2 AIP ALG14 ANKH ANTXR1 AP1S2 AP4M1 APC APC2 ATAD3A ATP10A ATP6V0A1 ATP6V1E1 ATRX BSCL2 CACNA1G CAV1 CAVIN1 CDC42BPB CDH11 CHRNE CLCN3 CLCN4 CLIC2 CNOT3 COLQ CSNK2B CUL4B CUL7 DEAF1 DHX30 DLK1 DNMT3A DOCK3 DYM EHMT1 ERCC1 ERCC4 ERCC6 ERCC8 EXOSC5 EZH2 FAM20C FBN1 FBXW11 FGFR1 FGFR2 FLCN FLII FMR1 FOS FOXG1 FOXP1 GALNS GFPT1 GJA1 GJA5 GJA8 GLB1 GNB2 GNPTAB GORAB GPC3 GPC4 GPR101 GRIA3 GRIA4 H3-3A H3-3B H4C5 HERC1 HERC2 HNF1B HNRNPH1 HS6ST2 IARS2 IDUA IL11RA IL1RAPL1 IL6ST INSR IQSEC2 KAT5 KAT6A KCNH1 KCTD1 KDM5C KDM6B KIF11 KIF7 KPTN LAMB2 LRP4 LRP5 LTBP3 MAF MAGEL2 MAN2B1 MBD5 MED13L MED25 MEG3 MEN1 MESD MGAT2 MSTO1 MYH3 MYH7 MYH8 MYOD1 NDST1 NEXMIF NFIX NHS NSD1 NSRP1 OCA2 OCRL OPHN1 P4HTM PAX3 PCDHGC4 PCGF2 PDE4D PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PMM2 POC1A POGZ PPARG PQBP1 PRKACB PRKAR1A PRKG2 PTCH1 PTCH2 PTDSS1 PTEN PTPN11 PUF60 PYCR1 RAB33B RAF1 RAI1 RECQL4 RFX7 RMRP RNF113A RNF125 RPL10 RPS6KA3 RTL1 RUNX2 RUSC2 SELENON SETD2 SFRP4 SH3PXD2B SLC10A7 SLC12A2 SLC25A24 SLC35A2 SLC35C1 SLC6A17 SLC6A8 SLC9A6 SMAD4 SMPD4 SMS SNRPN SOST SOX18 SRCAP STAG2 STEEP1 STT3A SUFU SUZ12 SVIL TAFAZZIN TBC1D2B TBC1D7 TBCK TGFB1 THUMPD1 TNFSF11 TNNI2 TONSL TPRKB TTN TWIST2 TXNL4A UBE3A UPF3B WDR62 ZEB2 HP_MANIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANIA ARMC5 ARVCF ATP2A2 CEP85L CHRNA7 CLCN4 COMT DNMT3A FA2H FLI1 GNAS GP1BB GRIA1 HIRA JMJD1C MECP2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW PDGFRB POLG POLG2 PRNP RBM12 RPS6KA3 RREB1 RRM2B SEC24C SLC25A13 SLC25A4 SMPD1 TBCK TBX1 TWNK UFD1 VPS16 HP_MANIFESTATIONS_OF_PERSEVERATIVE_THOUGHT_OR_ACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANIFESTATIONS_OF_PERSEVERATIVE_THOUGHT_OR_ACTION CHCHD10 CHMP2B CIC FUS GRN MAPT NONO NOTCH3 NPC2 PRNP PSEN1 SQSTM1 TACO1 TARDBP TBK1 TMEM106B TREM2 TTPA USP7 VCP HP_MARCUS_GUNN_JAW_WINKING_SYNKINESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MARCUS_GUNN_JAW_WINKING_SYNKINESIS COL25A1 KIF21A PHOX2A TOGARAM1 TUBA1A TUBB2B TUBB3 WDR26 HP_MASK_LIKE_FACIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASK_LIKE_FACIES ACTA1 ADH1C ATP13A2 ATP6AP2 ATP6V1A ATP7A ATXN2 ATXN8OS DCTN1 DNMT3B DUX4 DUX4L1 EIF2AK2 FA2H FKRP FKTN FMR1 FRG1 GBA1 GLUD2 HSPG2 ITPR1 KCNJ6 KDM6A KMT2D LARGE1 MAPT MRE11 MT-TT MYH3 NR4A2 PABPN1 PANK2 PAX6 PDGFB PDGFRB PIEZO2 PLXND1 POLG POMT1 POMT2 PRNP REV3L RIPK4 SLC20A2 SLC6A8 SMCHD1 SNCAIP TBP TH TK2 TRIM32 UBA5 UBE3A UFC1 HP_MASTOIDITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASTOIDITIS MALT1 NBN PAX1 RAG1 RAG2 SLC39A14 TPP2 HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG ABCC8 APPL1 BLK CEL DLK1 GCK HNF1A HNF1B HNF4A HYMAI INS KCNJ11 KLF11 MEG3 NEUROD1 PAX4 PCBD1 PDX1 PLAGL1 RTL1 ZFP57 HP_MECKEL_DIVERTICULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECKEL_DIVERTICULUM BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR1 FOXF1 GPC3 GPC4 GTF2H5 MAD2L2 PALB2 RAD51 RAD51C RBM10 RBM8A RFWD3 RFX6 SLX4 UBE2T XRCC2 HP_MECONIUM_ILEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_ILEUS CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA FCGR2A GCLC GSTM3 GUCY2C HFE HMOX1 KCNN4 MIF SERPINA1 SLC11A1 SLC18A3 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 HP_MECONIUM_STAINED_AMNIOTIC_FLUID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_STAINED_AMNIOTIC_FLUID ABCB11 ABCB4 ADNP ALDH7A1 ATP8B1 NR1H4 PHIP PLPBP SLC6A5 HP_MEDIAL_FLARING_OF_THE_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAL_FLARING_OF_THE_EYEBROW ABL1 APTX ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP19 CEP290 CFAP418 ELN FRA10AC1 GNB2 IFT172 IFT27 IFT74 LZTFL1 MKKS MKS1 MLXIPL NPHP1 NRCAM PRKD1 SCAPER SCLT1 SDCCAG8 SIN3A TRIM32 TTC8 WDPCP HP_MEDIAN_CLEFT_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP ALX3 CDON CILK1 DDX59 DISP1 DLL1 DVL1 DVL3 DYNC2LI1 EPG5 FAM20C FGF8 FGFR1 FOXA2 FOXH1 FZD2 GAS1 GJA1 GLI2 H4C3 HESX1 HYLS1 INTU LHX4 NEK1 NODAL NUAK2 OFD1 OTX2 PIGN PLCH1 POU1F1 PROP1 PTCH1 RIPK4 SHH SIX3 SLC2A10 SMC1A SMO STAG2 STIL TCTN3 TDGF1 TGIF1 WLS WNT5A ZIC2 ZSWIM6 HP_MEDIAN_CLEFT_LIP_AND_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP_AND_PALATE DVL1 DVL3 FAM20C FOXA2 FZD2 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1 PTCH1 SIX3 SLC2A10 TGIF1 WNT5A HP_MEDIAN_CLEFT_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_PALATE ALX3 ATP6V1E1 CILK1 DVL1 DVL3 EPG5 FAM20C FOXA2 FZD2 GLI2 HESX1 LBR LHX4 NUAK2 OTX2 PITX1 POU1F1 PROP1 PTCH1 SIX3 SLC2A10 STAG2 TGIF1 TWIST1 WNT5A ZSWIM6 HP_MEDIASTINAL_LYMPHADENOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIASTINAL_LYMPHADENOPATHY AGR2 APOE BCL10 BCL2 BCL6 BIRC3 BTNL2 CYBA CYBB CYBC1 EIF2AK4 EWSR1 FOXP1 HLA-B HLA-DPB1 HLA-DRB1 IRF4 MAGT1 MALT1 NCF1 NCF2 NCF4 P4HA2 PIK3CG PRKCD PTPN22 RASGRP1 TERT WT1 HP_MEDULLARY_NEPHROCALCINOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLARY_NEPHROCALCINOSIS ABCC6 ADAT3 CTNS CYP24A1 ENPP1 FGF23 MAGED2 POLRMT SLC34A1 SLC34A3 TOR1A TTC26 HP_MEDULLOBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLOBLASTOMA APC ASXL1 BRCA2 CDKN2A CHEK2 CTNNB1 DICER1 ELP1 GPR161 KEAP1 MDM2 MLH1 NBN PALB2 PTCH1 PTCH2 SMARCB1 SUFU TP53 HP_MEGACYSTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGACYSTIS ACTG2 AQP2 AVPR2 LMOD1 LRIG2 MYH11 MYL9 MYLK NKX2-1 TP63 HP_MEGAKARYOCYTE_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGAKARYOCYTE_DYSPLASIA MYH9 MYSM1 RFWD3 SAMD9 UBA1 HP_MEGAKARYOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGAKARYOCYTOPENIA GNA14 HOXA11 KIF15 MPL ZNFX1 HP_MEGALENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALENCEPHALY AKT3 ASPA CCND2 CDON CRADD DEPDC5 DISP1 DLL1 EIF2B5 FGF8 FGFR2 FGFR3 FOXH1 GAS1 GLI2 HEPACAM HERC1 HRAS IFNG KRAS MLC1 MTOR NODAL NPRL2 NPRL3 NRAS PIK3CA PIK3R2 PTCH1 PTEN RAB39B SHH SIX3 SMO SMS STIL STRADA TBC1D7 TDGF1 TGIF1 TSC1 TSC2 ZIC2 HP_MEGALOBLASTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOBLASTIC_ANEMIA AMN CBLIF CUBN DHFR FTCD HPRT1 LMBRD1 MMACHC MMADHC MTHFD1 MTR MTRR PHGDH PRDX1 SLC19A1 SLC19A2 SLC46A1 UMPS WFS1 HP_MEGALOCORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOCORNEA ANTXR1 BAZ1B BCL7B BUD23 CDH11 CHRDL1 CLIP2 COL11A1 CPLX1 CTBP1 DNAJC30 EIF4H ELN FBN1 FGD1 FGFR2 FKBP6 FKRP FKTN GMPPB GNPTAB GTF2I GTF2IRD1 GTF2IRD2 KCNMA1 KIFBP LARGE1 LETM1 LIMK1 LTBP2 MAF METTL27 MLXIPL MT-CYB NCF1 NELFA NSD2 PIGG PIK3R1 PITX2 POMGNT1 POMK POMT1 POMT2 PPP2CA PRDM5 RFC2 SH3PXD2B STX1A TBL2 TEK TINF2 TMEM270 VPS37D HP_MELANOCYTIC_NEVUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOCYTIC_NEVUS AKT1 BLOC1S5 BRAF CBL CDH3 CHRNA7 COL3A1 DDB2 EED ERCC2 ERCC3 ERCC4 ERCC5 ERF EZH2 FBN1 FGFR2 FGFR3 FKBP10 HPS1 HRAS IGF2 KLLN KRAS LZTR1 MC1R MPL MRAS NFIX NRAS OCA2 PCGF2 PDE4D PIK3CA PRKAR1A PTCH1 PTCH2 PTEN PTPN11 RAF1 RASA2 RBM28 RIT1 RRAS RRAS2 SDHB SDHC SDHD SEC23B SOS1 SOS2 SPRED2 SPTBN1 SUFU SUZ12 THPO TNFRSF11A TNFRSF11B TP63 TYR USF3 XPA XPC HP_MELANOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOMA AAGAB ACD AKT1 ANAPC1 BAP1 BARD1 BRAF BRCA1 BRCA2 BRIP1 CDK4 CDKN2A CDKN2B CHEK2 COL14A1 COL17A1 COL7A1 CTSC CXCR4 CYSLTR2 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GNA11 GNAQ HRAS KANSL1 KLLN KRAS MBD4 MBTPS2 MC1R MDM2 MGMT MITF MMP1 MRE11 NBN NRAS OCA2 PALB2 PALLD PERP PIK3CA POLH POT1 PTEN PTPN11 RABL3 RAD50 RAD51 RAD51C RAD51D RAF1 RECQL4 RNF43 SDHB SDHC SDHD SEC23B SF3B1 SLC6A17 SMAD4 STK11 TERF2IP TERT TP53 TRPV3 TYMS TYR USF3 WRN XPA XPC HP_MELENA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELENA ACVRL1 APC ATRX BMPR1A CD109 CDKN1A CDKN1B CDKN2B CDKN2C DAXX ENG FAH GP1BA GP1BB ITGA2 ITGA2B ITGB3 KIF23 MEN1 PTEN RACGAP1 SREBF1 WAS HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS C1QA C3 DGKE DNASE2 LMNB2 PGM3 SLC37A4 SOX18 ZNFX1 HP_MEMORY_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMORY_IMPAIRMENT ABCA7 ABCD1 ACSF3 ADA2 AFG3L2 AKT1 ALDH18A1 AMACR APOE APP ARMC5 ARSA ATN1 ATRX ATXN1 ATXN3 BAP1 BMPR1A BRAF C4A CAMTA1 CCR1 CDH23 CHMP2B CLN3 CP CSF1R CTSH CYLD DNMT1 ECM1 EIF2B1 EIF2B2 EPCAM ERAP1 FAN1 FAR1 FAS FGF14 FMR1 GNAS GNE GOSR2 GRIN2A GRN GSN HCRT HLA-B HLA-DQB1 HLA-DRB1 HMBS HTT IFNGR1 IL10 IL12A IL12A-AS1 IL23R JPH3 KLRC4 KRAS MAPT MEFV MEN1 MLH1 MLH3 MMACHC MOG MSH2 MSH6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYD88 MYORG NF1 NF2 NIPA1 NIPA2 NOTCH3 NPTX1 NR3C1 P2RY11 PAH PDGFB PDGFRB PIDD1 PIK3CA PMS1 PMS2 POLG POU4F1 PRKAR1B PRKCG PRNP PRORP PSAP PSEN1 PSEN2 REEP2 RNASEH1 RPS20 RRM2B SEMA4A SIM1 SLC20A2 SLC25A13 SLC2A3 SMARCB1 SMARCE1 SMO SORL1 SPAST SPG11 SPG7 SQSTM1 STAT4 STUB1 SUFU TERT TGFBR2 TIA1 TLR4 TMEM106B TNFSF4 TOMM40 TP53 TRAF7 TRANK1 TREM2 TREX1 TTPA TUBG1 TWNK TYROBP UBAC2 UGT1A1 USP48 USP8 VAMP1 VCP XPR1 YY1 ZNF365 HP_MENINGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGIOMA AKT1 ARMC5 BAP1 CCM2 CDKN1A CDKN1B CDKN2B CDKN2C CHEK2 COQ6 CREBBP EIF3F EP300 GNAS KLLN KRIT1 LMNA LZTR1 MBD4 MEN1 MN1 NF1 NF2 NRAS NTHL1 PDCD10 PDGFB PIK3CA PTEN SDHB SDHC SDHD SEC23B SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 USF3 WRN HP_MENINGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGITIS ARPC1B BCL2 BCL6 BLNK BTK C4A C4B C8A C8B CARD9 CCR1 CD19 CD40LG CD79A CD79B CFB CIITA CR2 CTLA4 CXCR4 CYBA CYBB CYBC1 DNASE1L3 ERAP1 FAS FCGR3B FOXP3 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 ICOS IFNGR1 IGHM IGLL1 IL10 IL12A IL12A-AS1 IL23R IL7 JAK3 KLRC4 LRRC8A MEFV MRTFA NCF1 NCF2 NCF4 NDE1 NLRC4 NLRP3 P4HA2 PIK3R1 PRF1 PRTN3 PTPN22 RAG1 RAG2 RFX5 RFXANK RFXAP SH2D1A SLC35C1 SLC39A7 SPI1 STAT4 TBK1 TCF3 TFRC TLR3 TLR4 TNFRSF13B TNFRSF13C UBAC2 VANGL1 WAS WIPF1 XIAP HP_MENINGOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOCELE ALX4 ARPC4 ARVCF B3GALNT2 BMPER CCL2 CEP290 COL18A1 COMT CPLANE1 CRPPA CSPP1 DACT1 DLL3 FKRP FKTN FLNA FRAS1 FREM2 FUZ GJA1 GLI3 GMPPB GP1BB GRIP1 H19 HES7 HIRA HNRNPK IGF2 INPP5E JMJD1C KCNQ1OT1 KIAA0586 LARGE1 LFNG MESP2 MSX2 NOTCH3 OFD1 PAX3 POMGNT1 POMT1 POMT2 PORCN PTCH1 RIPPLY2 RREB1 SC5D SEC24C SIN3A SMO SNRPB TBX1 TBXT TMEM216 TMEM237 UFD1 VANGL1 VANGL2 WNT7A ZIC3 ZSWIM6 HP_MENINGOENCEPHALOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOENCEPHALOCELE FKRP FKTN LARGE1 POMT1 POMT2 HP_MENOMETRORRHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENOMETRORRHAGIA FGA FGB FGG ITGA2B ITGB3 HP_MENORRHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENORRHAGIA BLOC1S3 BLOC1S5 DIAPH1 DTNBP1 F10 F11 F13A1 F13B F2 F5 F7 F8 FLI1 GP1BA GP1BB GP6 GP9 HPS4 HPS5 ITGA2B ITGB3 LMAN1 MCFD2 MYH9 NBEAL2 PLAU PRKACG PRLR RASGRP2 SERPINE1 SLC37A4 SLFN14 VWF HP_MENTAL_DETERIORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENTAL_DETERIORATION AARS1 AARS2 AASS ABCA7 ABCD1 ACTB ACTL6B ADA2 ADH1C AGK ALDH18A1 AMACR ANXA11 AP3B2 AP5Z1 APOE APOL2 APOL4 APP APTX ARSA ARV1 ASAH1 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATRX ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH BRAF BSCL2 C19orf12 C9orf72 CACNA1A CACNA1B CACNA2D1 CARS2 CCNF CDH23 CDK19 CELF2 CERS1 CFAP43 CHCHD10 CHCHD2 CHD2 CHI3L1 CHMP2B CISD2 CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNTNAP2 COASY COG2 COL4A1 COMT COX6B1 CP CPT1C CREBBP CSF1R CST3 CSTB CTC1 CTNS CTSD CTSF CUBN CUX2 CYC1 CYFIP2 CYLD CYP27A1 DALRD3 DAOA DARS2 DCAF17 DCTN1 DGUOK DHDDS DLAT DNAJC13 DNAJC5 DNAJC6 DNM1 DNM1L DNMT1 DRD3 EEF1A2 EIF2B5 EIF4G1 EP300 EPM2A ERBB4 ERCC2 ERCC4 ERCC6 ERCC8 FA2H FAR1 FBXO28 FBXO7 FGF12 FGF13 FMR1 FRRS1L FTL FUCA1 FUS FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALK1 GALT GBA1 GBA2 GBE1 GCDH GCH1 GDAP2 GIGYF2 GLB1 GLUD2 GM2A GNAS GOSR2 GRIN2A GRIN2D GRN HCN1 HEPACAM HEXA HEXB HGSNAT HIBCH HLA-DQB1 HMBS HNF4A HNRNPA1 HNRNPA2B1 HSD17B10 HTR2A HTRA1 HTRA2 HTT IDS IDUA IRF6 ITM2B JAM2 JPH3 KARS1 KCNA2 KCNB1 KCNC1 KCNQ2 KCNQ3 KCTD7 KIF1C KMT2A L1CAM LIG3 LMNB1 LRPPRC LRRK2 LYST MAPK10 MAPT MATR3 MBTPS2 MCOLN1 MECP2 MFN2 MFSD8 MICOS13 MMACHC MME MPO MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTFMT MTHFR MYORG NAGLU NBN NDP NDUFA1 NDUFA6 NECAP1 NHLRC1 NKX2-1 NOS3 NOTCH2NLC NOTCH3 NPC1 NPC2 NR3C1 NR4A2 NRAS NTRK2 NUS1 OPA1 PACS2 PAH PANK2 PARK7 PARS2 PDE10A PDE11A PDGFB PDGFRB PINK1 PLA2G6 PLAU PLEKHG4 PLP1 PMPCA PNPLA6 PODXL POLG POLR3K PPP2R2B PPP3CA PPT1 PRDM8 PRDX1 PRICKLE1 PRKAR1A PRKAR1B PRKCG PRKN PRNP PRRT2 PSAP PSEN1 PSEN2 PTS QDPR RAB27A RAB39B RBM28 RNASEH1 RNF216 RNU4ATAC ROGDI RRM2B RTN4R SAMD9L SCARB2 SCN1A SCN2A SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SERPINI1 SGPL1 SLC13A3 SLC13A5 SLC1A2 SLC1A3 SLC20A2 SLC2A3 SLC38A3 SLC39A14 SLC44A1 SLC7A6OS SMPD1 SNCA SNCAIP SNCB SNORD118 SORL1 SPAST SPG11 SPG21 SPTLC1 SQSTM1 STARD7 STUB1 SUMF1 SYN2 SYNGAP1 SYNJ1 SZT2 TARDBP TBK1 TBP TIA1 TIMM8A TIMMDC1 TINF2 TK2 TLR3 TMEM106B TMEM240 TOMM40 TP53 TRAK1 TREM2 TREX1 TRPM7 TTPA TTR TUBA4A TUBB4A TWNK TYMP TYROBP UBA5 UBAP1 UBQLN2 UBTF UCHL1 USP48 USP8 VCP VPS13A VPS13C VPS35 WDR45 WFS1 WWOX XPA XPR1 YWHAG ZFYVE26 HP_MESOAXIAL_FOOT_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_FOOT_POLYDACTYLY GJA5 GJA8 GLI3 MAP3K20 TFAP2B HP_MESOAXIAL_HAND_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_HAND_POLYDACTYLY CHSY1 CPLANE1 FAM149B1 FGFR2 GLI3 HOXD13 IFT27 LZTFL1 MAP3K20 MKKS TFAP2B TWIST1 HP_MESOAXIAL_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_POLYDACTYLY CHSY1 CPLANE1 FAM149B1 FGFR2 GJA5 GJA8 GLI3 HOXD13 IFT27 KIAA0753 KIF7 LZTFL1 MAP3K20 MKKS OFD1 PDE6D TCTN3 TFAP2B TMEM216 TOPORS TWIST1 HP_MESOMELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIA ACAN AFF3 CREB3L1 CTSK DHCR7 DONSON DVL1 DVL3 EIF4A3 ESCO2 FGFR3 FLNA GDF5 GLI3 GPC6 IFT80 KIF15 LBR NEK1 NGLY1 NPR2 NXN PRKG2 PTH1R RAC1 RMRP ROR2 SHOX SIK3 TBX15 TONSL TRIP11 WDR35 WNT5A HP_MESOMELIC_LEG_SHORTENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIC_LEG_SHORTENING EIF4A3 FLNA GLI3 NEK1 TBX15 HP_METABOLIC_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ACIDOSIS AARS2 ACADM ACADS ACADVL ACAT1 AGXT ALDH6A1 ALDOB APRT ATP6V0A4 ATP6V1B1 AUH BCS1L BTD CA2 CA5A CACNA1S CAD CLCNKB CLDN16 CLMP COA6 COA8 COX10 COX14 COX6B1 CPT1A CPT2 CTNS CUL3 CYC1 DEF6 DLD DPYS EHHADH EPG5 ERCC6 FAH FBP1 FBXL4 FH FOCAD GALT GATA3 GATM GCDH GFM1 GK GLYCTK GSS HADHB HIBCH HLCS HMGCL HNF1B HNF4A HPD HSD17B10 IBA57 INVS IVD JAG1 KCNJ5 KLHL3 KYNU LARS2 LCT LRPPRC LYRM4 MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMUT MPV17 MRPL3 MRPS22 MRPS28 MT-TL1 MT-TN MT-TS1 MTO1 MYO5B NADK2 NDUFA2 NDUFA6 NDUFA9 NDUFAF1 NDUFAF4 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB8 NDUFS1 NDUFS2 NDUFS7 NDUFV1 NEUROG3 NFS1 NFU1 NOTCH2 NR3C2 OCRL OGDH PAX2 PBX1 PC PCCA PCCB PDHA1 PDHX PET100 PHKA2 PHKB PHKG2 PIGA PLPBP PLVAP PNPO POLG2 POLRMT PPA2 PRDX1 RBCK1 RMND1 RRAGD RRM2B RYR1 SCNN1A SCNN1B SCNN1G SCO1 SLC12A3 SLC25A19 SLC25A3 SLC2A2 SLC34A1 SLC37A4 SLC4A1 SLC4A4 SLC52A1 SLC5A1 STX3 SUOX SURF1 TANGO2 TAOK1 TTC26 TUFM UPB1 UQCC2 UQCRB UQCRC2 UQCRH VIPAS39 VPS33B WNK1 WNK4 HP_METABOLIC_ALKALOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ALKALOSIS BSND CACNA1D CLCN2 CLCNKA CLCNKB HLA-B HSD11B2 IKZF1 KCNJ1 KCNJ10 KCNJ5 NARS2 NR3C1 SCNN1A SCNN1G SLC12A1 SLC12A3 SLC26A3 HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE ASXL1 FLNA MAP3K7 MYL11 RNF13 HP_METAMORPHOPSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAMORPHOPSIA ABCC6 ATP1A2 BAP1 BEST1 CACNA1A CFH CFI CRX CYSLTR2 EFEMP1 ENPP1 GNA11 GNAQ PRPH2 PRRT2 SCN1A SF3B1 HP_METAPHYSEAL_CHONDRODYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CHONDRODYSPLASIA AIFM1 ALG3 COL10A1 CWC27 DNAJC21 EFL1 FGFR3 GPX4 HDAC6 MMP13 PTH1R RMRP SBDS SRP54 HP_METAPHYSEAL_CUPPING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CUPPING AIFM1 ALPL COL10A1 COL11A2 COL2A1 CYP3A4 GPX4 HDAC6 IDH1 INPPL1 LBR MMP13 NEPRO PAM16 PCYT1A PEX5 PTH1R RMRP TRIP11 HP_METAPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_DYSPLASIA ACP5 AIFM1 ALG3 CDKN1C COL10A1 COL2A1 CWC27 DNAJC21 DYM EFL1 EIF2AK3 EXTL3 FGFR3 GJA1 GPX4 HDAC6 IDH1 LBR LONP1 LRRK1 MMP13 NKX3-2 PIK3C2A POLE POP1 PTH1R RMRP RUNX2 SBDS SFRP4 SRP54 TGFB1 TMEM165 TMEM53 UFSP2 HP_METAPHYSEAL_IRREGULARITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_IRREGULARITY ACP5 ARSB BGN CASR CFAP410 CLCN5 COL10A1 COL2A1 COMP CSPP1 CYP27B1 CYP2R1 DDRGK1 DNAJC21 DYM EFL1 EXOC6B FGFR3 FN1 GPX4 IARS2 IDH1 KIAA0586 KIF22 LBR LPIN2 MATN3 MMP13 MMP9 NANS NKX3-2 PCYT1A PEX5 PHEX PRKG2 PTH1R QRICH1 RAB33B RMRP RPL13 RSPRY1 SBDS SIK3 SLC17A5 SLC34A3 SLC35D1 SRP54 TONSL TRPV4 VDR HP_METAPHYSEAL_SCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SCLEROSIS ACP5 ANAPC1 CENPE COL10A1 COL2A1 CTC1 DNAJC21 KIF22 MMP13 RECQL4 SBDS SRP54 HP_METAPHYSEAL_SPURS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SPURS ATP7A COL2A1 DLK1 DYNC2H1 MATN3 MEG3 PCYT1A RTL1 TRAPPC2 TRPV6 HP_METAPHYSEAL_STRIATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_STRIATIONS ADA AMER1 ANAPC1 KIF22 MTAP NANS PISD POLE PORCN RAB3GAP2 RECQL4 RMRP TONSL WDR26 HP_METAPHYSEAL_WIDENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_WIDENING ABCC9 ACAN ACP5 ACVR1 AIFM1 ALG9 ANKH ARCN1 ARSB ATP7A B3GALT6 B3GAT3 B4GALT7 BMPR1B CANT1 CCN6 CHST3 COG4 COL10A1 COL11A1 COL11A2 COL2A1 COMP CSF1R CTNS CYP3A4 DDR2 DDRGK1 DNAJC21 DYM DYNC2H1 EED EFL1 ERCC1 EXT1 EXT2 EZH2 FAM111A FGFR3 FIG4 FLNA GALNS GJA1 GLB1 GNPTAB GSC HNRNPH1 HSPG2 IARS2 IDH1 IDUA IL6ST INPPL1 KIF22 LBR LIFR LRP5 MAP3K7 MATN3 MMP13 MMP2 MMP9 NANS NPR2 NSMCE2 OSTM1 PCNT PCYT1A PEX7 PHEX PITX1 PLCB3 POLR1A PRKG2 PTDSS1 PTH1R RMRP RUNX2 SBDS SFRP4 SH3PXD2B SKI SLC26A2 SLC35D1 SLC39A13 SRP54 TAPT1 TCIRG1 TONSL TRIP11 TRPV4 VAC14 VPS33A WDR19 XYLT1 HP_METATARSAL_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSAL_SYNOSTOSIS FBLN1 FGF9 HOXD13 MAP3K20 POR SALL1 SLC26A2 SMOC1 HP_METATARSUS_ADDUCTUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_ADDUCTUS B3GALT6 B3GAT3 CHST3 CPLX1 CTBP1 DDR2 DHCR24 DHCR7 DLK1 EZH2 FBN1 FBN2 FGFRL1 FIBP FIG4 GLI3 GUSB LETM1 LIG4 LMNB2 MAPK1 MEG3 MET MYH8 NALCN NSD2 NSUN2 PEX1 PEX2 PEX5 PIEZO2 RAB23 RAB3GAP2 RTL1 SH3PXD2B SKI SLC26A2 SLC35A2 SOX9 TNNI2 TNNT3 TRPV4 TUBB3 UBE3B VAC14 WDR26 ZBTB20 HP_METATARSUS_VALGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_VALGUS AKT1 B3GALNT2 B4GAT1 BMPR1B COL4A1 CRPPA DAG1 FKRP FKTN GDF5 HSPG2 INPP5K LARGE1 NAA10 POMGNT1 POMGNT2 POMK POMT1 POMT2 PTEN RXYLT1 SIL1 TGDS HP_METHEMOGLOBINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHEMOGLOBINEMIA CYB5A CYB5R3 HBA1 HBB HBG2 HP_METHYLMALONIC_ACIDEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDEMIA ABCD4 ACSF3 ALDH6A1 CD320 HCFC1 LMBRD1 MMAA MMAB MMACHC MMADHC MMUT MTR MTRR PRDX1 SUCLA2 SUCLG1 HP_METHYLMALONIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDURIA ABCD4 ACSF3 ALDH6A1 CD320 HCFC1 LMBRD1 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MTR MTRR PRDX1 SFXN4 SUCLA2 SUCLG1 TCN2 HP_METOPIC_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METOPIC_SYNOSTOSIS ASXL3 CDK8 DDB1 DIAPH1 ERF FGFR1 FREM1 GLI3 GPC3 GPC4 HERC1 HNRNPK IL11RA MSX2 NFIA OTUD5 PCDHGC4 PIGA PIGT PPFIBP1 PTCH1 SIX2 SON TMEM216 WDR35 HP_METRORRHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METRORRHAGIA BCOR F5 FIP1L1 FLI1 HPS5 IRF2BP2 NABP1 NPM1 NUMA1 PML PRKAR1A RARA STAT3 STAT5B TBL1XR1 ZBTB16 HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA ADAMTS13 C3 CD46 CFB CFH CFHR1 CFHR3 CFI HELLPAR IRAK1 SAT1 SPP1 STAT4 THBD HP_MICROCEPHALIC_SPERM_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCEPHALIC_SPERM_HEAD CFAP69 CFAP91 IQCN TTC29 USP26 HP_MICROCOLON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCOLON ACTG2 AP1S1 GATA6 GUCY2C LMNA LMOD1 MYH11 MYLK SOX10 ZMPSTE24 HP_MICROCORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCORNEA AARS1 ACTB ACTG1 ADAMTS18 ANK1 ARL2 ATOH7 B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 BRD4 CARS1 CC2D2A CENPF CEP290 CHN1 CHST14 COL4A1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTCF CTDP1 DAG1 DEAF1 DPYD EBP ERCC2 ERCC3 ERCC6 ERCC8 FANCB FGF3 FKBP14 FKRP FKTN FLI1 FLII FOXE3 FOXL2 FZD4 GJA1 GJA8 GORAB GTF2E2 GTF2H5 HDAC8 HMGB3 HMX1 HSPG2 IQSEC2 JAG1 KDM6A KIF11 KMT2D KRAS LARGE1 LMX1B MAB21L2 MAF MAFB MAPRE2 MED25 MIR184 MITF MKS1 MPLKIP NAA10 NDP NHS NIPBL OTX2 PAX6 PITX2 PITX3 PLK4 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRR12 PRSS56 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RBP4 RECQL4 RNF113A RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL4 SC5D SLC16A12 SMC1A SMC3 TARS1 TBC1D20 TBL1XR1 TBX15 TBX22 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TUBB TXNDC15 UBE3B WNT3 ZEB2 HP_MICROCYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCYTIC_ANEMIA ABCB7 ACVRL1 AGGF1 ALAS2 ATRX BCL11A C2orf69 CARD10 CAT CP DNAJC19 ENG FARSA FDX2 FECH GDF2 HBA1 HBA2 HBB HBD HBG1 HBG2 HSCB IL6ST IREB2 IRX5 KARS1 KLF1 LPIN2 OSTM1 PSMB8 PSTPIP1 PUS1 RIPK1 SHPK SLC25A10 SLC25A21 SLC29A3 SLC35C1 SLC37A4 SMAD4 SMPD1 SRD5A3 SUCLA2 TAFAZZIN TEK TKFC TMPRSS6 TRNT1 WAS WIPF1 HP_MICRODONTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRODONTIA ADGRV1 ADNP ANAPC1 ARID1B ATP6V0A2 ATP6V1B2 AXIN2 B3GALT6 B3GAT3 BAZ1B BCL11B BCL7B BUD23 C1R C1S CACNA1C CCDC47 CDH11 CDH3 CDK13 CHST3 CHSY1 CKAP2L CLIP2 COL3A1 CTCF DLX3 DNAJC21 DNAJC30 DPF2 DYNC2LI1 EDA EDA2R EDAR EDARADD EIF4H ELN EVC EVC2 EYA1 FAM20C FBXO28 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FKBP6 FOXC1 GHR GJA1 GJA5 GJA8 GJB2 GLI1 GRB10 GREM2 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HEPHL1 HS2ST1 IDUA IFT122 IFT140 IFT43 IFT52 IRF6 KAT6B KDM6A KIAA0753 KMT2D LAMB3 LIMK1 LMBRD2 LRP6 LTBP3 MAPK1 MAPRE2 MBD5 MCOLN1 MED12 METTL27 MLXIPL MSX1 MYO7A NCF1 NECTIN1 NFIX NHP2 NOP10 ORC1 P4HB PAX9 PCGF2 PCNT PDZD7 PIGA PIGF PIGL PIK3C2A PIK3R1 PITX2 PLXNA1 PLXND1 PRIM1 PRKACA PRKACB PRKD1 RBBP8 RECQL4 REV3L RFC2 RHOA RMRP SATB2 SCNM1 SEC23A SIX1 SLC25A24 SMARCA2 SMARCAL1 SMC3 SMOC2 SNRPN SRCAP STX1A SUMO1 TBL2 TCF12 TFAP2A TGFA TMCO1 TMEM270 TONSL TP63 TRPS1 TWIST2 UBE3B UBR1 USH2A VPS37D WDR19 WDR35 WDR4 WHRN WNT10A WNT10B HP_MICROGLOSSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGLOSSIA BMP4 DHCR7 ECM1 EDN1 GLI3 GNAI3 LMNB2 MYMK NEK1 OTX2 PLCB4 PRRX1 PTDSS1 RBBP8 SMO TBX15 TRIM37 HP_MICROGRAPHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGRAPHIA ADH1C ATXN2 ATXN8OS FTL GBA1 GLUD2 MAPT MT-TT NR4A2 PDGFB PDGFRB SLC20A2 SNCA SNCAIP TBP VPS13A HP_MICROLISSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROLISSENCEPHALY CIT KATNB1 KIF14 NDE1 RELN RNU4ATAC HP_MICROMELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROMELIA ACAN ACTB ALPL ANTXR2 APC B3GLCT BMPR1B BRD4 CCDC8 CD96 CDKN1C CEP120 CILK1 COL11A1 COL11A2 COL2A1 CRTAP CSGALNACT1 CUL7 DDR2 DDRGK1 DHCR24 DHCR7 DONSON DPYD DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2 FAM20C FGFR2 FGFR3 FLNB FZD2 GDF5 GLI1 GLUL GPC6 HDAC8 HHAT HSPG2 HYLS1 IDH1 IDH2 IFT140 IFT172 IFT43 IFT80 IFT81 IHH IL6ST INPPL1 KIAA0586 KIAA0753 KIF7 LBR LIFR LRP4 MATN3 MMP9 NBAS NIPBL OBSL1 PAM16 PCNT PDE4D PHGDH POLE PRKACA PRKACB PRKAR1A PTH1R PUF60 RAD21 RMRP RNU4ATAC SERPINH1 SHOX SLC26A2 SLC35D1 SMC1A SMC3 SMO TCTN3 TRIP11 TRPV4 TTC21B WDR19 WDR35 WNT5A WNT7A HP_MICRONODULAR_CIRRHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRONODULAR_CIRRHOSIS ABHD5 APC ARG1 ATP6AP2 AXIN1 CASP8 CTNNB1 DGUOK IGF2R KIF3B KRT18 MET MPV17 NGLY1 PDGFRL PIGA PIK3CA POLG SLC30A10 TALDO1 TP53 TREX1 ZFYVE19 HP_MICROPENIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPENIS ACTA1 ACTB ADAR ADAT3 ALG12 ALKBH8 ALMS1 ALX4 ANOS1 AR ARCN1 ARL6 ARX ATAD3A ATP6V1A ATP6V1E1 ATRX AXL B4GAT1 B9D2 BBS1 BBS5 BLTP1 BUB1B C2CD3 CAMK2A CASK CCDC141 CCDC28B CDC42BPB CDC45 CDC6 CDH11 CDH2 CDKL5 CDKN1C CENPT CEP41 CHD4 CHD7 COG5 COLEC10 COX7B CPE CTU2 CUL4B CYB5A CYP17A1 DCAF17 DCC DCX DDX6 DHCR7 DHDDS DHODH DHX37 DMRT3 DMXL2 DPYSL5 DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYRK1A EBF3 ECE1 EHMT1 EIF2S3 ELN ERCC2 ERCC6 ERCC8 EXT2 FAM111A FANCB FANCD2 FANCL FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FKRP FLRT3 FRAS1 FZD2 GATA4 GH1 GLI2 GLI3 GLYCTK GMPPB GNAO1 GNB2 GNRH1 GNRHR GRIA3 GRIN1 GRM7 H4C9 HCCS HDAC8 HERC1 HERC2 HESX1 HID1 HNRNPR HOXA13 HS6ST1 HSD3B2 HUWE1 IFIH1 IFT172 IL17RD INPP5E INTU KAT6B KATNIP KCNA1 KDM5C KDM6A KIAA0586 KIAA0753 KIF7 KISS1 KISS1R KLF1 KLHL15 KLHL40 KLHL41 KMT2D LAMA5 LARGE1 LEP LHB LIG4 LMNB2 LMOD3 LMX1B LSM11 LSS LZTFL1 MADD MAGEL2 MAMLD1 MAP3K1 MBD5 MCTP2 MED12 MEGF8 MID1 MINPP1 MKRN3 MLXIPL MTM1 MYRF NDNF NDUFB11 NEB NEK1 NEUROD2 NHLH2 NPAP1 NR0B1 NR5A1 NSMF OPHN1 ORC1 ORC6 OTUD5 OTX2 PBX1 PHF21A PHF6 PIEZO2 PIGA PIGP PIGQ PNKP PNPLA6 POLE POMT1 POMT2 POR PPP1R12A PRDM13 PRKDC PROK2 PROKR2 PSMC1 PSMD12 PTPN11 PWAR1 PWRN1 RAB18 RAB3GAP2 RIPK4 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU4ATAC RNU7-1 ROR2 RSPO2 RYR1 SAMHD1 SATB2 SCN1B SCN2A SEMA3A SEMA3E SETBP1 SGPL1 SIK1 SIM1 SIX6 SLC25A22 SLC25A24 SLC29A3 SLC32A1 SMCHD1 SMO SNORD115-1 SNORD116-1 SOX10 SOX2 SOX9 SPRY4 SPTBN1 SRA1 SRD5A2 SRY STT3A STT3B STXBP1 TAC3 TACR3 TAPT1 TBC1D20 TBCE TBL1XR1 TBX3 TCF12 TCF4 THOC2 THOC6 TOE1 TOGARAM1 TP63 TREX1 TRIM8 TRPM3 TWIST2 UBA1 UBE2A UBR1 UBR7 USP7 VAC14 VAMP7 WDR11 WNT5A WT1 WWOX XRCC4 ZEB2 ZFPM2 ZPR1 HP_MICROPHALLUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPHALLUS CDKN1C CILK1 FANCF GATA4 HMGA2 HSD3B2 IGF2 MINPP1 OPHN1 PLAG1 RTTN SAMD9 SIN3A TACR3 THOC2 TOE1 TRRAP HP_MICROPHTHALMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPHTHALMIA AARS1 ABCB6 ACTB ACTG1 ALDH1A3 ALDH6A1 ALX1 ALX3 ALX4 AP2M1 ARHGAP31 ARVCF ARX ASPH ATN1 ATOH7 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C12orf57 CAPN15 CARS1 CC2D2A CENPF CEP120 CEP290 CEP57 CHD2 CHD7 CHUK COL4A1 COMT COX14 COX7B CRB1 CRPPA CRYAA CSPP1 CTDP1 CTNNB1 DACT1 DAG1 DLL4 DOCK6 DONSON DPYD EBP EOGT ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXW11 FGF3 FGFR1 FIG4 FKRP FKTN FOXC2 FOXE3 FOXL2 FRAS1 FREM1 FREM2 FZD4 GDF3 GDF6 GJA1 GJA5 GJA8 GLI2 GLI3 GMPPB GP1BB GPRASP2 GRIP1 GTF2E2 GTF2H5 HCCS HDAC6 HIRA HMGB3 HMX1 HRAS HYLS1 IKBKG INTS1 INTU JAM3 JARID2 JMJD1C KERA KIF11 KIF14 KIF15 KIF7 KMT2D KRAS LAMB2 LARGE1 LMBRD2 LRP5 MAB21L2 MAD2L2 MAPRE2 MBTPS2 MED12 MED13L MED25 MFRP MITF MKS1 MPLKIP MT-CYB NAA10 NDP NDUFB11 NEXMIF NHS NOTCH1 NRAS NUP188 OCRL OSGEP OTX2 PALB2 PAX2 PAX6 PCYT1A PDE6D PDGFRB PEX7 PHGDH PHYH PIEZO2 PIGN PIK3CA PITX3 PLK4 POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRIM1 PRR12 PRSS56 PTCH1 PUF60 PXDN RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARB RAX RB1 RBBP8 RBP4 RBPJ RECQL4 RERE RFWD3 RHOA RIPK4 RNF113A RPGRIP1 RPGRIP1L RREB1 RSPO2 RTTN RXYLT1 SALL1 SALL4 SCN1A SEC24C SEMA3E SETD5 SF3B2 SHH SIN3A SIX3 SIX6 SLC16A12 SLC25A24 SLC2A1 SLC38A8 SLC6A1 SLX4 SMAD4 SMC5 SMCHD1 SMG9 SMO SMOC1 SNX10 SOX2 SPECC1L SRD5A3 STRA6 SYCE1 SYNGAP1 TARS1 TBC1D20 TBCE TBL1XR1 TBR1 TBX1 TBX15 TCOF1 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TKFC TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TMTC3 TOGARAM1 TRIP13 TSPAN12 TUBB TUBGCP4 TUBGCP6 TXNDC15 UBE2T UFD1 VAC14 VAX1 VPS13B VPS35L VSX2 WDR37 WDR73 WNT3 WNT7B XRCC2 XYLT2 YAP1 ZEB2 ZNF408 ZNF699 HP_MICRORETROGNATHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRORETROGNATHIA AGRN ALG13 ALG9 ATP6V0A2 B3GAT3 BANF1 C2CD3 CANT1 CEP120 CEP55 CHAT CHST14 CHST3 COL13A1 COL2A1 CREB3L1 CRIPT CSGALNACT1 CTNND2 DHCR7 DSE EBP EIF4A3 FBXL3 GAD1 GLDN GLI3 GMNN INTS1 IPO8 KAT6A KATNB1 KCNK9 KIF7 KPTN LMNA MYH7 MYO9A NAA10 NDE1 NEDD4L NFIX NSDHL NSMCE2 OCLN OFD1 ORC6 PAX1 PIGN POLR1D PRDM13 PRORP PUF60 RELN RPL10 RSPO2 RTTN SEC24D SELENON SEMA5A SF3B4 SIN3A SLC10A7 SLC18A3 SLC25A1 SLC35A3 SLC5A7 SNAP25 SYT2 TAF1 TASP1 TELO2 TMEM70 TRIP4 TTN TUBA1A TXNDC15 VAMP1 WDR11 YARS1 ZC4H2 HP_MICROSCOPIC_HEMATURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROSCOPIC_HEMATURIA ACSL4 ADAMTS13 AMMECR1 CFHR5 CLCN5 COL4A3 COL4A5 CTNS CUBN F2 FN1 INF2 KCNE5 LMNB2 LMX1B LPIN2 NOS1AP NUP85 PAX2 PBX1 SLC37A4 SMARCAL1 HP_MICROTIA_THIRD_DEGREE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROTIA_THIRD_DEGREE CDC45 CDC6 CDT1 FANCB GMNN ORC1 ORC4 ORC6 TCTN3 TWIST2 HP_MICROVESICULAR_HEPATIC_STEATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROVESICULAR_HEPATIC_STEATOSIS ACAD9 BCS1L CARS2 DNAJC19 LRPPRC LYRM4 MPV17 MRPL44 NAA10 NGLY1 NHLRC2 PIGA POLG POLG2 SLC22A5 SLC25A13 TFAM TRMU UNC45A VPS4A YARS1 HP_MIDDLE_AGE_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDDLE_AGE_ONSET AARS1 AARS2 ABCC9 ACTC1 ANO10 ANO5 ANXA11 AP5Z1 APC APOE APP APPL1 ATN1 ATP2B2 ATP6AP2 ATXN10 BAG3 BAP1 BBS2 BMP6 BMPR2 BRCA1 BVES CACNA1I CADM3 CAPN3 CASK CAV1 CCDC88C CCNF CDH2 CFH CHCHD10 CHCHD2 CHMP2B CHRNA1 CLCN2 CLEC3B CLN6 CNBP COL4A1 CRYAB CSF1R CTNNA1 CYLD CYP7B1 DAB1 DES DGUOK DNAJB4 DNM1L DNMT1 DRD5 DSC2 DSG2 DYRK1B EIF2AK4 EIF4G1 ELOVL4 ELOVL5 EPCAM ERBB4 FARS2 FAT2 FBLN5 FBN1 FDPS FHL1 FKTN FLNC FTL G6PD GANAB GATAD1 GBE1 GBF1 GJA5 GNB4 GYG1 H6PD HAVCR2 HGSNAT HKDC1 HLA-DQB1 HNRNPA1 HSPB1 HTRA1 IKZF1 IMPG2 ITM2B ITPR3 JAK2 JPH3 KCNA5 KCNC3 KCND3 KCNE2 KCNJ18 KCNJ2 KCNK3 KCNQ1 KIF1B KIF5A KLHL7 KNG1 LAMA4 LGI1 LITAF LMNA LMX1B LOX LRIF1 LRP12 MAFA MAK MAP1B MAPT MARCHF6 MARS1 MARS2 MATR3 MBD4 MFSD8 MICAL1 MLH1 MME MOCOS MPZ MSH2 MSH3 MYH6 MYORG MYPN NAF1 NAGLU NEFL NEK1 NEXN NF1 NOL3 NOTCH2NLC NOTCH3 NPPA NPTX1 NRL OPTN OXGR1 PDE8B PDGFB PDGFRB PDK3 PDYN PHKA1 PIGT PKD2 PKHD1 PLEKHG5 PLN POLG POLRMT PRKN PRNP PSAP PSEN1 PSEN2 PUM1 PYGM RAB39B RAF1 RAX2 RBM12 REEP1 RELN RIPOR2 RNASEH1 RPA1 RPGR RRM2B SAMD9L SCN1B SCN2B SCN3B SCN5A SDHA SDHD SEC23B SFTPA1 SLC37A4 SMPD1 SMPX SNCA SNORD118 SOCS1 SPG11 SPTLC2 STT3A TBK1 TBP TBX18 TERT TGFBI TGM6 THSD1 THSD4 TIA1 TK2 TMEM240 TNNC1 TNNI3 TNNT2 TOR1A TPM1 TRPM3 TRPM7 TTC19 TTLL5 TTN TUBA4A UBA1 UBQLN2 UNC119 UQCRC1 USP48 VAPB VCL VCP VEZF1 VPS16 WASHC5 ZNF408 HP_MIDFACE_RETRUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDFACE_RETRUSION ACAN ACP5 ACTB ADNP AGL AIFM1 ALG12 AMMECR1 AMPD2 ANKRD17 ANTXR1 ATP6V0A2 ATRX B3GALT6 B3GAT3 B4GALT7 BANF1 BCL11A BICD2 BICRA BMP2 BMP4 BPTF BRF1 BUB1B CAMK2B CANT1 CASZ1 CBL CCDC47 CCDC8 CDC42 CDH11 CDK19 CDKN1C CEP120 CHD1 CHD3 CHST3 CILK1 CLCN3 CLCN4 COG1 COL11A1 COL11A2 COL18A1 COL1A1 COL27A1 COL2A1 COL9A2 COL9A3 COX15 COX7B CPLX1 CRTAP CSGALNACT1 CTCF CTSK CUL7 DCHS1 DDB1 DDR2 DEAF1 DHX37 DLX4 DPH5 DSE DVL1 DVL3 EBP EFTUD2 EHMT1 ELN EPB41L1 ERF FAM20C FAM50A FAT4 FBN1 FGFR1 FGFR2 FGFR3 FIBP FLII FLNA FLNB FOXC1 FOXG1 FZD2 GABRD GDF11 GHR GLI2 GMNN GNPAT GPC4 GRIA4 GRIN1 H19 H3-3A H3-3B HCCS HDAC4 HECW2 HEPACAM HESX1 HNRNPH2 HOXB1 HSPA9 HSPG2 IARS2 IFT52 IFT81 IGF2 IL11RA IQSEC2 IREB2 ITCH JARID2 KAT6A KCNAB2 KCNQ1 KCNQ1OT1 KIF15 KIF1A KIF22 KMT2C KMT2D KRAS LBR LEMD2 LHX3 LHX4 LIFR LINS1 LMNA LRP2 LRPPRC LRRC32 LTBP4 LUZP1 LZTR1 MAD1L1 MAF MAN2B1 MBD5 MECP2 MED13L MEGF8 MESD MGP MIPEP MIR140 MLXIPL MMP23B MN1 MRAS MRPS14 MTOR MYSM1 NDUFB11 NECTIN1 NEPRO NF1 NFIX NGLY1 NKAP NRAS NSMCE3 NXN OBSL1 OSGEP OTUD5 P4HB PAK2 PDE4D PDGFRB PDPN PEX1 PIGV PIK3R1 PITX2 PKD2 PLP1 POGZ POLR1A POLR1B POLR1C POLR1D POMGNT1 POP1 POR POU1F1 PPP2R5D PRDM16 PRKACA PRKAR1A PRKCZ PROP1 PRR12 PSMC1 PSMD12 PTCH1 PTEN PTH1R PTPN11 PTRH2 PYCR1 RAB23 RAB3GAP1 RAB3GAP2 RAC3 RAF1 RAI1 RASA2 RERE RFWD3 RIT1 RNF13 RNU12 ROR2 RPS28 RRAS RRAS2 RUNX2 RYR1 SATB1 SATB2 SEC23A SEC24D SERPINH1 SETBP1 SF3B4 SH2B1 SHH SIX3 SKI SLC25A24 SLC26A2 SLC35D1 SLC6A8 SLC9A7 SMAD2 SMAD4 SMC1A SMCHD1 SON SOS1 SOS2 SOST SOX11 SOX9 SP7 SPEN SPRED2 STAC3 TBL1XR1 TBX1 TCF12 TCF20 TCOF1 TGFB3 TLK2 TMCO1 TMEM165 TONSL TRIO TRPM3 TSEN54 TSR2 TUBGCP2 TWIST1 UBE2A UBE4B UFC1 USB1 WAC WASF1 WDR35 WDR73 WNT5A YME1L1 ZBTB20 ZIC1 ZMIZ1 ZNF407 ZNHIT3 HP_MIDLINE_DEFECT_OF_THE_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDLINE_DEFECT_OF_THE_NOSE ALX1 ALX3 ALX4 EFNB1 FRAS1 FREM1 FREM2 GRIP1 HYLS1 LONP1 NF1 NSMF NUAK2 PTCH1 TBX4 TFE3 ZSWIM6 HP_MIDLINE_HAND_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDLINE_HAND_MOVEMENTS AP1S2 CACNA1B CDKL5 CELF2 CNTNAP2 DHX30 DYRK1A GABBR2 GNAI1 GRIA2 GRIN1 GRIN2A H4C5 HDAC4 IQSEC2 KCNB1 LARP7 LMNB1 MECP2 MGAT2 NACC1 NEXMIF NTNG1 SATB1 SMC1A VAMP2 ZBTB18 HP_MIGRAINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE ACSF3 ACVRL1 ADA2 ADAMTS3 ADAMTSL1 AIP ALPK1 AMACR APP ATP1A2 BMPR1A C4A CACNA1A CCR1 CLTRN COL3A1 COL4A1 COL5A1 COPB1 CSNK1D DEPDC5 DNM1L EDNRA ENG EPCAM EPHB4 ERAP1 ESR1 FAN1 FAS FGFR2 FGFR3 FRMD5 GABRG2 GATA2 GDF2 GP1BA GP1BB GP9 GPR101 GRIN2A HLA-B HTR1A IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R JAG1 KCNA1 KCNK18 KLRC4 KRAS LGI1 MEFV MLH1 MLH3 MLX MSH2 MSH6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MVK MYD88 MYORG NDP NF1 NFIX NLRP3 NOP56 NOTCH3 OPA1 PDGFB PDGFRB PEX11B PGK1 PIK3CA PMS1 PMS2 POLG POLG2 PRORP PRRT2 RASA1 RELA RELN RNASEH1 RPS20 RRM2B SCN1A SEMA4A SH2B1 SLC1A3 SLC25A4 SLC2A1 SLC6A19 SMAD3 SMAD4 SMARCAL1 SMARCB1 SPOP SQOR SRPX2 STARD7 STAT4 STIM1 SUFU TGFBR2 TLR4 TNF TNFRSF1A TREX1 TWIST1 TWNK UBAC2 ZFTA HP_MIGRAINE_WITHOUT_AURA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITHOUT_AURA CACNA1A CSNK1D EDNRA ESR1 KCNK18 TNF TREX1 HP_MIGRAINE_WITH_AURA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITH_AURA ATP1A2 CACNA1A COL4A1 CSNK1D EDNRA ESR1 KCNK18 NOTCH3 PRRT2 SCN1A TNF TREX1 HP_MILDLY_ELEVATED_CREATINE_KINASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILDLY_ELEVATED_CREATINE_KINASE ACTA1 ADSS1 ALG2 BIN1 CACNA1S CHCHD10 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 COL9A3 CRPPA DNM2 DOK7 ERGIC1 FKRP FKTN FLNC GABRA3 GFPT1 GNE HADH HNRNPA1 KBTBD13 KCNE3 KCNJ18 KLHL41 LMNA MATR3 MEGF10 MICU1 MPV17 MSTO1 MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MTMR14 MYF6 MYH14 MYH7 MYPN NEB PEX6 PLEKHG5 POLG POLRMT POMT1 QRICH1 RYR1 SCN4A SCYL2 SQSTM1 TFG TIA1 TPM2 TPM3 TRIP4 TRMU TTN TWNK UBA1 VCP YME1L1 HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY AASS ABCA2 ABCC8 ACAD8 ACTB ADNP ALB ALDH4A1 AMT AP3B1 ASPA ATP5F1B ATR ATRIP B4GALT7 CDC6 CDH2 CENATAC CENPE CENPJ CEP152 COG1 CTNNB1 CTSK DBR1 DHTKD1 DNA2 DOLK ERMARD EYA1 FTCD FZD4 GJA1 GNB2 IARS1 KCNJ11 LCA5 LRAT LRP5 MAP1B MCM4 MT-TK NARS2 NDP NFE2L2 NONO NSMCE3 NUP85 OCRL PCNT PDP1 PEPD PHKB PLCB4 PLK4 PLP1 POLRMT PRKAR1A PTF1A RBBP8 RNF168 RPE65 RRAS2 SF3B2 SIX1 SOX3 SOX9 SPATA7 TANGO2 TBX2 TBX4 TCF12 TMEM163 TOP3A TPP2 TRAIP TSPAN12 WDR26 ZNF408 ZNF462 HP_MILD_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_HEARING_IMPAIRMENT COL1A2 CTSK DPH1 DPH2 MED12 MFN2 PGM3 HP_MILD_MICROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MICROCEPHALY ASPA CEP85L COG6 CWF19L1 GATA6 GRIN2B LARP7 OCA2 PLAG1 RIC1 SDHA SDHAF1 SDHB SDHD THOC6 TRAPPC9 UBE3A HP_MILD_MYOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MYOPIA AHDC1 COL11A2 GNB3 H4C5 OFD1 POGZ HP_MILD_POSTNATAL_GROWTH_RETARDATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_POSTNATAL_GROWTH_RETARDATION ADAMTS3 ANKRD55 CCBE1 CD247 CDAN1 ERCC6 ERCC8 FAT4 IGFALS IL2RA IL2RB PRKAR1A PTPN2 PTPN22 PTRH2 STAT4 HP_MILD_PROTEINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_PROTEINURIA KARS1 PAX2 SLC22A12 SLC2A9 VPS50 WDR19 HP_MILD_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_SHORT_STATURE AGO1 CAMK2G CANT1 CHST11 COL10A1 COL1A1 COL9A2 COL9A3 COMP DOCK3 EVC EVC2 FGD1 IDS LBR MATN3 PCGF2 PDE4D RTTN SMARCA2 HP_MILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILIA COL17A1 COL7A1 CYLD FERMT1 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIFR MMP1 OFD1 PLEC PPOX PTCH1 SMARCAD1 HP_MINICORE_MYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINICORE_MYOPATHY CFL2 FXR1 MEGF10 MYH7 RYR1 SELENON TNNT1 TRIP4 TTN HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA CD2AP COL4A3 COQ8B CRB2 DAAM2 EMP2 GAPVD1 INF2 KANK2 KIRREL1 LAGE3 LMX1B MAGI2 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PLCE1 PTPRO SMARCAL1 TBC1D8B TRPC6 WT1 ZAP70 HP_MINIMAL_SUBCUTANEOUS_FAT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINIMAL_SUBCUTANEOUS_FAT CAV1 KCNJ6 LMNA NAA10 SKI HP_MIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIOSIS CHRDL1 COL25A1 DDC DNMBP ERCC6 GNB2 HHAT KIF1B KIF21A NOTCH2NLC ORAI1 PEX7 PHOX2A PHYH RAB18 SIX6 STIM1 TUBA1A TUBB2B TUBB3 ZFHX4 HP_MISALIGNMENT_OF_INCISORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISALIGNMENT_OF_INCISORS ABCC9 ALX3 ANKRD11 ATRX CHSY1 DNMT3A DOCK7 FREM1 GATAD2B HMGB3 HRAS RNF2 SCUBE3 STAG1 TBC1D2B TUBGCP2 HP_MISCARRIAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISCARRIAGE ALB BIN1 CLN8 DLK1 DNM2 ENG FCGR3B FGA FGB FGG HBB HOXA13 HSPG2 JAK2 MEG3 MGP MPL MTMR14 MYF6 NLRP7 NSD2 PLIN1 PLXND1 RAD51C REC114 RHAG RHCE RHD RTL1 RYR1 SERPINC1 SERPINE1 THPO WRN HP_MISSING_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISSING_RIBS ALDH1A2 ATP6V1B2 ATR B3GALT6 B3GAT3 B4GAT1 BMP2 BMPER CASZ1 CCDC22 CENPJ CEP152 CHST3 CPLANE1 DNMT3A DONSON DPYSL5 FBN1 FLI1 FLNB FUZ GABRD GPX4 HDAC6 HES7 HNRNPR HSPG2 IFT43 KCNAB2 KYNU LBR LUZP1 MMP23B MYF5 NALCN NFASC NUP88 PAICS PDPN PRDM16 PRIM1 PRKCZ PTPN11 RERE RNU4ATAC ROR2 RPS19 RRAS2 RSPO2 SCUBE3 SIX6 SKI SNRPB SOX2 SOX9 SPEN SRCAP TBC1D24 TBCK TBX6 TOR1A UBE4B VANGL1 VPS35L WASHC5 WNT3 HP_MITOCHONDRIAL_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_INHERITANCE BCS1L FDX2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TF MT-TI MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW NDUFS4 SURF1 TRMU HP_MITOCHONDRIAL_MYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_MYOPATHY AGK CAV3 DNA2 FDX2 FOXRED1 ISCU MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL OPA1 PNPLA8 POLG POLG2 PUS1 RRM2B SLC25A4 TIMMDC1 TK2 TMEM126B TWNK TYMP YARS2 HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS CAMKMT CYP27A1 DNAJC30 FBXL4 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NDUFS2 PNPT1 PPM1B PREPL SLC3A1 TRMU HP_MITRAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_ATRESIA CCNQ GJA1 GNB2 LRPPRC MCTP2 MMP21 NKX2-5 NOTCH1 PLXND1 SMARCA4 TRAF7 ZIC3 HP_MITRAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_STENOSIS ABCC6 ADAMTSL2 ARSB CHST3 FBN1 GBA1 GJA1 HAAO LMNA LZTR1 MCTP2 NKX2-5 NOTCH1 NOTCH2 PLD1 SYT2 UBE2A XYLT1 XYLT2 ZIC3 ZMPSTE24 ZNF148 HP_MITRAL_VALVE_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_CALCIFICATION FBN1 GBA1 HGD IFIH1 LMNA MTX2 SLC34A2 ZMPSTE24 HP_MITRAL_VALVE_PROLAPSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_PROLAPSE ABCC6 ADNP AEBP1 AGR2 ALG5 ALG9 ANK1 ATP6V1E1 B3GALT6 B3GAT3 BAZ1B BCL7B BCOR BGN BICC1 BRAF BRF1 BUD23 CBS CHST14 CHST3 CLIC2 CLIP2 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COX7B CREBBP DCHS1 DNAJB11 DNAJC30 DSE DZIP1 EIF4H ELN ENPP1 EP300 EXTL3 FBN1 FBN2 FIBP FKBP6 FLNA FMN2 FMR1 GANAB GTF2I GTF2IRD1 GTF2IRD2 HCCS HCN4 HEXB HNRNPH2 HRAS IFT140 IPO8 KRAS LIMK1 LMNA LTBP3 LZTR1 MAP3K7 MAPK1 MED12 METTL27 MFAP5 MLXIPL MMP14 MMP2 MYH7 MYPN NCF1 NDUFB11 NF1 NPR3 PCGF2 PKD1 PKD2 PLD1 PLOD1 POLG PRDM5 PRG4 PTPN11 RAF1 RFC2 ROBO1 RPL5 RYR1 SACS SELENON SH3PXD2B SKI SLC29A3 SLC6A6 SMAD3 SMAD4 SPRED1 SPRED2 STX1A TAB2 TBL2 TGFB2 TGFBR1 TGFBR2 TMEM270 TNXB TPM2 TPM3 TTN TWNK VPS13B VPS37D VWF XYLT1 XYLT2 ZNF469 HP_MITTEN_DEFORMITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITTEN_DEFORMITY COL17A1 COL7A1 DSP ITGB4 KRT5 LAMA3 LAMB3 LAMC2 MMP1 HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY ATP7B MORC2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NEFL HP_MIXED_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HEARING_IMPAIRMENT ABCC6 AFF4 AMMECR1 ANKH ARSL B3GALT6 CDH11 CDK5RAP2 CHD7 COL11A2 DVL1 ELMOD3 ENPP1 EYA1 FAM20C FBXW7 FGF10 FGFR2 FGFR3 FKBP14 FLNA FLNB GDF6 GJA1 GJB2 GJB6 HOXA2 IGBP1 KMT2D MAN2B1 MAP3K7 PAX1 PORCN POU3F4 RECQL4 ROBO1 RPS28 SGMS2 SIX1 HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN ADAR DPP9 KRT14 KRT5 LMNA PCNT PIGN POFUT1 POGLUT1 PSENEN SASH1 SMS UBE2A HP_MODERATELY_REDUCED_VISUAL_ACUITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_REDUCED_VISUAL_ACUITY CNGB3 DNM1L IMPG1 IMPG2 LRP5 OPA1 RAC1 HP_MODERATELY_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_SHORT_STATURE HOXD13 RUNX2 SELENOI SLC26A2 SLC39A13 HP_MODERATE_ALBUMINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_ALBUMINURIA ABCC8 GCK IER3IP1 INS KCNJ11 MIA3 PDX1 SLC37A4 STAT3 HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY ADNP AIFM1 CDKL5 DLK1 HAL HSD17B10 IRX5 KDM5B MADD MEG3 NCAPD3 NF1 PGM3 PHGDH PLP1 PSMC3 RTL1 SDHA SDHAF1 SDHB SDHD SOX9 TANGO2 TBX4 TET2 TMEM70 TPP2 HP_MODERATE_MYOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_MYOPIA ASPH COL9A3 FLNA H4C3 H4C5 HP_MOLAR_TOOTH_SIGN_ON_MRI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLAR_TOOTH_SIGN_ON_MRI AHI1 ARL13B ARL3 ARMC9 B9D1 B9D2 C2CD3 CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 EXOC2 FAM149B1 IFT74 INPP5E KIAA0586 KIAA0753 KIF7 MKS1 NPHP1 OFD1 PDE6D PIBF1 RPGRIP1L SUFU TCTN1 TCTN3 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS ZNF423 HP_MOLLUSCOID_PSEUDOTUMORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLLUSCOID_PSEUDOTUMORS COL1A1 COL3A1 COL5A1 COL5A2 PLOD1 ZNF469 HP_MONOCHROMACY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCHROMACY ATF6 CNGA3 CNGB3 CNNM4 GNAT2 NBAS OPN1LW OPN1MW PDE6C PDE6H RPGR HP_MONOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOPENIA CARD11 GATA2 IRF8 PIK3CG RAC2 WAS HP_MONOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOSIS CLPB DDX41 ELANE G6PC3 GFI1 IKBKB KRAS NRAS PIK3CD SRP19 SRP54 TCIRG1 ZNFX1 HP_MONOTONIC_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOTONIC_SPEECH CWF19L1 DNAJC13 EIF4G1 FBXO7 GBA1 GIGYF2 LRRK2 SNCA VPS35 HP_MOON_FACIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOON_FACIES ARMC5 ATRX BRAF CDH23 GNAS H4C5 NR3C1 PDE11A PRKACA PRKAR1A TP53 USP48 USP8 XYLT1 HP_MORNING_GLORY_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_GLORY_ANOMALY DNM1L HMX1 OPA1 PAX2 PAX6 TMEM237 HP_MORNING_MYOCLONIC_JERKS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_MYOCLONIC_JERKS CACNB4 CILK1 CLCN2 CSTB EFHC1 GABRA1 GABRD JRK KCNQ3 PRICKLE1 SCARB2 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT ABCD1 ALS2 ATL1 BAZ1B BCL7B BUD23 CHCHD10 CLIP2 CPT1C DCC DCTN1 DEAF1 DNAJC30 DNAL4 EIF4H ELN FKBP6 FLII FUS GALC GTF2I GTF2IRD1 GTF2IRD2 IQSEC2 KPNA3 L1CAM LIMK1 METTL27 MLXIPL MT-ATP6 NCF1 NEFH NIPA1 NTN1 PDHB PLP1 PRPH RAD51 RAI1 RFC2 RTN2 SLC33A1 SOD1 SPAST SPG11 SPG7 SQSTM1 STX1A TARDBP TBK1 TBL2 TMEM270 UBAP1 VCP VPS37D WASHC5 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR ABCC6 AIRE APC2 BPTF COG1 COL1A1 COL1A2 DDR2 EFTUD2 ENPP1 EYA1 FOCAD FRAS1 GDF6 GJB2 GJB6 IDS IL11RA MAP3K7 NFIX NKX2-1 NOG NOTCH3 NSD1 POLR1D POU3F4 PSMD12 RAD21 RAI1 SETBP1 SETD2 SIX1 SIX5 STAG2 SYK TFAP2A HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT ABCD1 AIFM1 ALS2 ATL1 ATP1A2 ATXN10 ATXN8OS BAZ1B BCL7B BUD23 CHCHD10 CLIP2 CPT1C CTC1 DCC DCTN1 DEAF1 DNAJC30 DNAL4 DPYS EIF4H ELN FKBP6 FKTN FLII FUS GALC GAN GTF2I GTF2IRD1 GTF2IRD2 IQSEC2 KCNC3 KPNA3 L1CAM L2HGDH LIMK1 MAPT METTL27 MLXIPL MT-ATP6 NCF1 NEFH NIPA1 NTN1 PDHB PLA2G6 PLP1 PRKRA PRNP PRPH RAD51 RAI1 RFC2 RTN2 SLC19A3 SLC2A1 SLC33A1 SLC6A3 SOD1 SPAST SPG11 SPG7 SQSTM1 STX1A TARDBP TBK1 TBL2 TMEM270 TREX1 UBAP1 VAPB VCP VPS37D WASHC5 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_SEMICIRCULAR_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_SEMICIRCULAR_CANAL CBL CHD7 ESRP1 FGFR2 FOXP2 GREB1L KRAS LZTR1 MRAS NRAS PTPN11 RAF1 RASA2 RIT1 RRAS RRAS2 SEMA3E SOS1 SOS2 SOX10 SPRED2 HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR CBL CHD7 ESRP1 EYA1 FGFR2 FOXI1 FOXP2 GREB1L HRAS KCNJ10 KRAS LZTR1 MAP3K7 MRAS NRAS PI4KB PTPN11 RAF1 RASA2 RIT1 RRAS RRAS2 SEMA3E SIX1 SLC26A4 SOS1 SOS2 SOX10 SPRED2 HP_MOTOR_AXONAL_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_AXONAL_NEUROPATHY AAAS AGTPBP1 AIFM1 ATL1 ATL3 C19orf12 COASY CTDP1 EXOSC9 GAN GMPPA HARS1 HINT1 HMBS HNRNPA1 HNRNPA2B1 KCNK9 KLC2 KPNA3 LMNA MORC2 OPA1 PEX10 PLEKHG4 PNPLA6 SLC12A6 SPG7 SPTLC1 SPTLC2 TBCD TRAPPC11 VCP VWA1 WARS1 WDR48 XK HP_MOTOR_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DELAY AARS2 ABCA12 ABCA2 ABCC8 ACADSB ACAT1 ACBD5 ACP5 ACTA1 ACTB ACTN2 ADA ADA2 ADAMTS2 ADARB1 ADCY5 ADGRG1 ADGRL1 ADNP AEBP1 AGK AGO1 AGO2 AGR2 AGRN AGTPBP1 AHCY AHDC1 AHI1 AK9 ALDH18A1 ALDH5A1 ALDOA ALG12 ALG14 ALG2 ALMS1 ALS2 AMFR AMN AMPD2 ANAPC7 ANKRD17 ANTXR1 AP1S2 AP3B1 AP3B2 AP4B1 AP4E1 AP4S1 APC2 ARCN1 ARHGEF2 ARID1B ARID2 ARL13B ARPC4 ASAH1 ASPA ASPM ASXL3 ATG5 ATG7 ATL1 ATP10A ATP1A1 ATP1A3 ATP2A1 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP9A ATPAF1 ATPAF2 ATXN7 AUH AUTS2 B3GALT6 B3GAT3 B4GALT7 BAP1 BCAS3 BCL11A BCL11B BCOR BCORL1 BICD2 BIN1 BMP1 BMPR1A BPTF BRAT1 BRPF1 BSND CACNA1C CACNA1G CACNA1S CADM3 CAMK2A CAMK2B CANT1 CARS1 CASK CCBE1 CCDC134 CCDC22 CCDC78 CCNK CDC40 CDH11 CDH2 CDK13 CDK5 CDK8 CDKL5 CDKN1C CELF2 CFL2 CHAMP1 CHAT CHD3 CHD5 CHD7 CHD8 CHKA CHKB CHMP1A CHRNA1 CHRNB1 CHRND CHRNE CHST14 CHST3 CIB2 CIC CIT CLCN3 CLCN6 CLCN7 CLCNKA CLCNKB CLDN11 CLP1 CLPB CNKSR2 CNOT1 CNOT2 CNOT3 CNTNAP2 COA8 COASY COG1 COG4 COG5 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COPB1 COQ2 COQ7 COX10 CPE CPLX1 CPSF3 CPT1A CRAT CRBN CREBBP CRPPA CSGALNACT1 CSNK2A1 CSNK2B CTBP1 CTDP1 CTNNA2 CTNNB1 CUBN CUL3 CUL4B CUX1 CWC27 CYP27B1 CYP2R1 CYP2U1 CYP3A4 DAG1 DARS1 DARS2 DCPS DCX DDOST DDR2 DEAF1 DHPS DHX30 DLAT DLG3 DLK1 DMD DMXL2 DNAJB4 DNAJC19 DNAJC21 DNASE2 DNM1L DNM2 DOCK3 DOK7 DOLK DPAGT1 DPF2 DPH2 DPM3 DPYD DPYSL5 DSE DYM DYNC1H1 DYNC1I2 DYRK1A EBF3 EFEMP2 EGR2 EHMT1 EIF2AK1 EIF2B4 EIF3F ELN ELOVL1 EN1 EP300 EPG5 EPRS1 ERLIN2 EXOC6B EXOSC2 EXOSC3 EXOSC8 EXOSC9 EXT2 EXTL3 FAR1 FARSB FASTKD2 FBLN1 FBLN5 FBN1 FBN2 FBXL3 FBXO11 FBXW11 FDX2 FDXR FGD4 FGF3 FGFR3 FIG4 FITM2 FKBP14 FKRP FKTN FLNA FLRT1 FLVCR1 FMR1 FNIP1 FOXG1 FOXP1 FRA10AC1 FRMD5 FRMPD4 FTSJ1 FUCA1 FUS FXR1 FZD4 GAA GABBR2 GABRA5 GALC GALE GALK1 GALNS GALNT2 GAN GARS1 GBA1 GBF1 GCK GDAP1 GEMIN4 GEMIN5 GET4 GFM1 GFPT1 GGPS1 GHR GJA1 GJB1 GJC2 GLE1 GLRB GLS GMNN GMPPB GNAI1 GNB5 GNPTAB GPC3 GPC4 GPSM2 GRB10 GRIA1 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2B GRM1 GTF2E2 GTPBP2 GUSB H19 H3-3A H4C5 HACD1 HADH HADHA HADHB HARS1 HDAC4 HECTD4 HECW2 HELLS HEPACAM HERC2 HGSNAT HIBCH HID1 HIVEP2 HK1 HMGA2 HNMT HNRNPK HOXA1 HPDL HPRT1 HS2ST1 HS6ST2 HSD17B4 HUWE1 HYCC1 IARS2 IDH1 IFT140 IFT27 IFT52 IFT74 IGF1 IGF1R IGF2 IL1RN IL37 IL6ST INPP5E INPP5K INPPL1 INS IPO8 IQSEC1 ITCH ITGA7 ITPR1 JAG1 KARS1 KAT6A KAT6B KAT8 KATNB1 KBTBD13 KCNA1 KCNA4 KCNC3 KCNJ11 KCNK4 KCNN2 KCNQ2 KDELR2 KDM1A KDM3B KDM4B KDM5B KDM5C KDM6B KIAA0753 KIDINS220 KIF14 KIF21A KIF7 KLC2 KLHL15 KLHL40 KLHL41 KMT2A KMT2B KMT2C KMT2E KPNA3 KPTN KY LAMA1 LAMA2 LAMB1 LAMB2 LARGE1 LARS1 LARS2 LBR LIAS LIG1 LINGO1 LINS1 LMBRD2 LMNA LMNB1 LMNB2 LMOD3 LMX1B LNPK LONP1 LRP4 LRP5 LRRC32 LSS LTBP1 LTBP4 LYRM4 MACF1 MADD MAGEL2 MAN1B1 MAN2B1 MAN2C1 MAOA MAP3K20 MAPK8IP3 MAPRE2 MARS1 MBD5 MBOAT7 MBTPS1 MBTPS2 MCEE MCM3AP MDH2 MECP2 MECR MED12 MED12L MED13 MED13L MED27 MEF2C MEG3 MEGF10 MEGF8 MESD MFF MFN2 MICOS13 MICU1 MID1 MINPP1 MKRN3 MKS1 MLC1 MLIP MMP13 MN1 MORC2 MPDZ MPV17 MPZ MRAS MRPS14 MRPS25 MSL3 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW MTM1 MTMR14 MTMR2 MTPAP MUSK MYF6 MYH3 MYH7 MYL1 MYL2 MYMK MYO18B MYO7A MYO9A MYOD1 MYPN MYRF MYT1L NAA10 NAA15 NAA20 NALCN NANS NARS1 NAT8L NBEA NCAPG2 NCDN NDP NDRG1 NDST1 NDUFA1 NDUFA12 NDUFA4 NDUFA8 NDUFS2 NEB NEDD4L NEFL NEK1 NEPRO NEU1 NEUROD2 NEXMIF NFASC NFIA NFIB NFIX NGLY1 NHLRC2 NIPA1 NIPA2 NKX2-1 NKX3-2 NKX6-2 NMNAT1 NONO NOTCH3 NOVA2 NPAP1 NPHP1 NRAS NRCAM NSD1 NSRP1 NT5C2 NTNG1 NTNG2 NUBPL NUDT2 NUS1 ODC1 OGDH OPA1 OPHN1 ORC6 OTUD6B P4HTM PACS2 PAFAH1B1 PAK1 PAK3 PAX7 PBX1 PCBD1 PCDH15 PCDH19 PCYT2 PDE10A PDK3 PDX1 PET117 PGAP1 PGAP2 PGAP3 PGM1 PGM2L1 PHEX PHKA2 PHKB PHKG2 PHOX2A PI4KA PIEZO2 PIGC PIGG PIGO PLAG1 PLEC PLOD1 PLP1 PLPBP PLXND1 PMP22 PMPCA PNKP PNP PNPLA2 POGZ POLR1C POLR1D POLR2A POLR3B POLR3GL POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PPFIBP1 PPIL1 PPP2CA PPP2R1A PPP2R5D PRDM13 PREPL PRIM1 PRKRA PRMT7 PRPS1 PRR12 PRX PSMB1 PSMD12 PSMG2 PTCH1 PTEN PTH1R PTPRQ PTRH2 PTS PUM1 PURA PUS7 PWAR1 PWRN1 PYGL QRICH1 RAB11B RAB3GAP1 RAB3GAP2 RAC1 RAD51 RAI1 RALA RALGAPA1 RAPSN RARS1 RBL2 RBM8A RBPJ RECQL4 REPS1 REV3L RFX7 RIPK4 RNF125 RNF170 RNF220 RNU12 ROBO3 ROGDI ROR1 RORA RPL10 RPS23 RPS6KA3 RRAS2 RSPRY1 RSRC1 RTL1 RUBCN RUSC2 RYR1 RYR3 SAMD9 SARDH SATB1 SBF2 SCN11A SCN1A SCN2A SCN4A SCN8A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SEC24D SELENOI SELENON SEMA6B SEPSECS SERPINH1 SET SETBP1 SETD1A SETD5 SFXN4 SGMS2 SH2B1 SH3PXD2B SH3TC2 SHANK3 SHMT2 SHOC2 SIAH1 SIGMAR1 SIK3 SIM1 SIN3A SLC12A2 SLC12A6 SLC16A2 SLC18A2 SLC18A3 SLC1A3 SLC1A4 SLC25A1 SLC25A12 SLC25A15 SLC25A42 SLC25A46 SLC31A1 SLC37A4 SLC39A13 SLC39A8 SLC5A7 SLC6A3 SLC6A8 SLC9A1 SLC9A7 SMARCA2 SMARCAL1 SMARCD1 SMC1A SMC5 SMPD1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX14 SON SOX4 SOX5 SP7 SPARC SPART SPEG SPEN SPG11 SPG21 SPOP SPR SPRED1 SPTBN1 SPTBN2 SPTBN4 SPTLC1 SRCAP SRD5A3 STAC3 STAG2 STAT3 STT3A STXBP1 SUCLA2 SUCLG1 SUPT16H SURF1 SVBP SYNE1 SYNGAP1 SYT1 SYT2 TAF1 TAF8 TAFAZZIN TANC2 TANGO2 TAOK1 TBC1D24 TBR1 TCF20 TCF4 TENT5A TET3 TFG TGFB3 TH THG1L TIMM50 TK2 TKFC TLK2 TMCO1 TMEM106B TMEM107 TMEM147 TMEM163 TMEM222 TMEM38B TMEM63A TMEM63C TMEM94 TMTC3 TNFRSF11A TNFRSF11B TNNC2 TNNT1 TNPO3 TNR TNRC6B TOR1A TPM2 TPM3 TRAF7 TRAPPC10 TRAPPC6B TRAPPC9 TRIM2 TRIM8 TRIO TRIP11 TRIP12 TRIP4 TRIT1 TRMT1 TRMT10A TRMU TRNT1 TRPM3 TRPV4 TRPV6 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSHB TSHR TSPAN12 TSPOAP1 TTC5 TTI2 TTN TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBG1 UBA1 UBA2 UBE2A UBE3A UBE3B UBE3C UGDH UGP2 UNC80 UPB1 UQCRFS1 USH1C VAMP1 VARS1 VDR VLDLR VMA21 VPS13B VPS13D VPS33A VPS35L VPS41 VPS4A VPS51 VRK1 WAC WASF1 WASHC4 WDR26 WDR4 WDR45 WDR62 WDR73 WDR81 WLS WWOX XYLT1 YARS1 YARS2 YIF1B YME1L1 YY1 ZBTB11 ZBTB24 ZBTB7A ZC4H2 ZEB2 ZMIZ1 ZMYND11 ZNF142 ZNF148 ZNF407 ZNF408 ZNF592 ZNF711 ZSWIM6 HP_MOTOR_DETERIORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DETERIORATION CLN5 CLN6 CLN8 FRRS1L GALC GRIN2A HGSNAT MECP2 NOTCH3 PAH PLEKHG4 PRKAR1B PSAP RBM28 SDHA SDHAF1 SDHB SDHD TK2 HP_MOTOR_NEURON_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_NEURON_ATROPHY AGTPBP1 ALS2 ANG ANXA11 ASAH1 ATXN2 ATXN3 C9orf72 CCNF CEP126 CFAP410 CHCHD10 CHMP2B CPLANE1 CYLD DAO DCTN1 EPHA4 ERBB4 EXOSC3 EXOSC8 EXOSC9 FIG4 FUS GLE1 GLT8D1 HNRNPA1 HNRNPA2B1 IGHMBP2 KIF5A MAPT MATR3 NEFH NEK1 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRKAR1B PRPH PSEN1 RBM28 SETX SIGMAR1 SLC25A46 SMN1 SMN2 SOD1 SPG11 SPTLC1 SQSTM1 TAF15 TARDBP TBK1 TFG TIA1 TREM2 TRPM7 TUBA4A UBA1 UBQLN2 UNC13A VAPB VCP VRK1 HP_MOTOR_POLYNEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_POLYNEUROPATHY AGRN AIFM1 ALAD ALDH18A1 ARL6IP1 BSCL2 CHAT COL13A1 CPOX CPSF3 CTDP1 GARS1 GJC2 HINT1 HMBS LYST MYO9A NEFL PPOX PRPS1 REEP1 RNASEH1 SCO2 SELENOI SLC12A6 SLC18A3 SLC25A1 SLC5A7 SNAP25 SPG11 SYNE1 SYT2 TFG TRPV4 UBA1 VAMP1 HP_MOTOR_REGRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_REGRESSION ADH5 CLN8 COX15 DPH5 EPRS1 GLB1 HSD17B4 LRPPRC NDUFA6 NFU1 NGLY1 POLR3GL POLR3K SELENOI STN1 TRAPPC6B HP_MOTOR_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_SEIZURE AARS1 ABCC8 ACSF3 ACTL6B ADAM22 ADGRG1 ADGRV1 ADNP AFG3L2 AKT3 ALDH4A1 ALDH5A1 ALDH7A1 ALG13 ALG14 ALG2 AP2M1 AP3D1 APC2 ARFGEF1 ARHGEF9 ARX ASAH1 ASNS ASPA ATAD1 ATP1A2 ATP1A3 ATP2B1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6AP2 ATP6V0A1 ATP6V1A ATP7A ATPAF1 ATPAF2 ATXN10 BRAT1 BTD BUB1B CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA2D1 CACNB4 CAMK2A CAMK2B CAMTA1 CARS2 CASK CDC40 CDH2 CDK19 CDKL5 CELF2 CENPE CEP85L CHD2 CHD3 CHRNA2 CHRNA4 CHRNB2 CIC CILK1 CLCN2 CLCN3 CLCN4 CLN3 CLN5 CLN8 CLPB CNPY3 COG2 COL18A1 COQ5 COQ8A COX11 COX4I1 COX8A CPLX1 CRH CSNK2A1 CSNK2B CTNNA2 CTSD CUL3 CUX2 D2HGDH DALRD3 DCX DENND5A DEPDC5 DHDDS DHFR DHX16 DHX37 DMXL2 DNAJC5 DNM1 DNM1L DOCK7 DOHH DOLK DPAGT1 DPH5 DPM1 DPM2 DPYD DYRK1A EEF1A2 EFHC1 EHMT1 ELOVL4 EN1 EPM2A ERCC5 ERMARD EXOC7 EXOC8 EXOSC5 EXTL3 FAR1 FARS2 FBLN1 FBXO28 FGF12 FRRS1L FZR1 GABBR2 GABRA1 GABRA3 GABRA5 GABRB3 GABRD GABRG2 GAD1 GALC GAMT GBA1 GCDH GCK GLB1 GLYCTK GM2A GNAO1 GNB1 GNB2 GOLGA2 GOSR2 GPAA1 GPHN GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 GRN GUF1 HACE1 HCFC1 HCN1 HCN2 HCN4 HDAC4 HEXB HIBCH HID1 HK1 HNRNPU HYMAI IER3IP1 IFNG INS IQSEC2 IREB2 JRK KANSL1 KARS1 KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNJ11 KCNK4 KCNMA1 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNT2 KCTD7 KDM4B KDM5C KIF11 KIF1A KIF5A KIF5C KNSTRN LAMC3 LGI1 LMNB2 LNPK LONP1 MACF1 MAPK1 MAPK10 MAST3 MBOAT7 MDH2 MECP2 MED11 MED13 MFF MFSD8 MGAT2 MICAL1 MICOS13 MMACHC MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTHFS MTOR NACC1 NAPB NARS1 NAXD NAXE NBEA NCDN NDE1 NDUFA1 NDUFA2 NDUFAF3 NDUFAF6 NDUFAF8 NDUFV1 NECAP1 NEDD4L NEU1 NEUROD2 NEXMIF NGLY1 NHLRC1 NPRL2 NPRL3 NR4A2 NSD1 NSF NTNG1 NTRK2 NUS1 OGDHL OPHN1 PACS2 PAFAH1B1 PCDH12 PCDH19 PCYT2 PDHA1 PDX1 PEX3 PGAP2 PGAP3 PHACTR1 PHGDH PI4KA PIGA PIGL PIGM PIGP PIGQ PIGT PIGW PIK3CA PIK3CD PLAGL1 PLCB1 PLPBP PNKP POLG POMK POU4F1 PPFIBP1 PPIL1 PPP1R21 PPP3CA PRDM8 PRICKLE1 PRMT7 PRRT2 PRUNE1 PSAP PSAT1 PTEN PTPN23 PTRH2 PURA PYCR2 RAB18 RALGAPA1 RBL2 RELN RFX7 RNF13 RNU4ATAC ROGDI RPL10 RTN4IP1 RUSC2 SAMD12 SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHA SDHAF1 SDHB SDHD SEPSECS SETBP1 SETD1B SETD2 SIK1 SLC12A5 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A10 SLC25A12 SLC25A15 SLC25A22 SLC2A1 SLC32A1 SLC35A2 SLC35A3 SLC38A3 SLC6A1 SLC6A19 SLC9A6 SMARCA2 SMARCAL1 SMC1A SMS SNORD118 SPATA5 SPATA5L1 SPTAN1 SPTBN1 SQOR SRPX2 ST3GAL3 STAMBP STAT3 STRADA STX1B STXBP1 SUCLA2 SYNGAP1 SYNJ1 SZT2 TANGO2 TBC1D24 TBCD TBL1XR1 TGFB1 TIMM50 TMEM147 TMEM231 TMX2 TPK1 TRAPPC12 TRAPPC9 TRIM8 TRIT1 TRPM3 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TUBB2A TUBB2B TUBB3 TUBG1 UBA5 UBE3A UFC1 UFSP2 UGDH VPS50 VPS53 WDR45 WDR45B YWHAG ZNF526 ZNHIT3 HP_MOTOR_TICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_TICS CEP152 COASY GNB1 GRIA1 HDC KCNN2 PANK2 PDGFB PTCHD1 SLITRK1 VPS13A HP_MOTTLED_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTTLED_PIGMENTATION DUOX2 HPGD KRT14 KRT5 LMNA LTV1 RECQL4 ZMPSTE24 HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE ALS2 ATP13A2 EDN1 FRAS1 GAA GIPC1 GNAI3 LRP12 MTPAP NOTCH2NLC PLCB4 POLG RILPL1 SBF2 SH3TC2 TUBB4A HP_MOYAMOYA_PHENOMENON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOYAMOYA_PHENOMENON ACTA2 ADAR BRCC3 GUCY1A1 IFIH1 LSM11 NFIA PCNT RNASEH2A RNASEH2B RNASEH2C RNF213 RNU7-1 SAMHD1 TREX1 HP_MUCOPOLYSACCHARIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUCOPOLYSACCHARIDURIA ARSB ARSK COL2A1 FUCA1 GALNS GLB1 GNPTAB GNPTG GNS GUSB HGSNAT IDS IDUA NAGLU NGLY1 PIK3C2A RMRP SGSH SUMF1 TRPV4 VPS33A HP_MUCOSAL_TELANGIECTASIAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUCOSAL_TELANGIECTASIAE ACVRL1 AKT1 ATM CAV1 CCN2 CCR6 CTC1 CTSA DDB2 ENG ERCC2 ERCC3 ERCC4 ERCC5 GDF2 GLA GNAQ HLA-DRB1 IRF5 KIAA0319L KLLN LBR LIG1 MASP1 NAGA NBN PCNA PEX6 PIK3CA PTEN RNF168 SASH1 SDHB SDHC SDHD SEC23B SETX SMAD4 USF3 XPA XPC HP_MULTICYSTIC_KIDNEY_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTICYSTIC_KIDNEY_DYSPLASIA ACTG2 AMER1 ARL3 ARL6 ARL6IP6 B3GLCT B4GAT1 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BRD4 BUB1 BUB1B BUB3 CC2D2A CD96 CEP19 CEP290 CEP57 CFAP418 CHRM3 CSPP1 DHCR7 EYA1 FIBP FLI1 FRAS1 FREM2 GNA11 GPC3 GPC4 GREB1L GRIP1 HDAC4 HDAC8 HNF1B HOXD13 IFT172 IFT27 IFT74 INPP5E KAT6B LAMA3 LAMB3 LAMC2 LHX1 LIG1 LMOD1 LZTFL1 MBTPS2 MCTP2 MKKS MKS1 MYH11 MYLK NIPBL NPHP1 NPHP3 NRIP1 NXN OFD1 PAX2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGN PORCN RAD21 ROR2 RPGRIP1 RPGRIP1L RSPO2 SALL1 SCAPER SCLT1 SDCCAG8 SF3B2 SH2B1 SIX1 SIX5 SMC1A SMC3 SNRPB SPOP TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TRIP13 TTC8 TXNDC15 WDPCP WNT3 ZEB2 HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES ADAR D2HGDH GAA IFIH1 LSM11 NOTCH3 PUS3 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC25A15 TRAPPC9 TREX1 HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES ACTL6B ADK ALDH7A1 ALG1 ARFGEF1 ARX ASPA ATP1A3 CACNA1G CARS2 CASK CDKL5 CHD2 CLN5 CLTCL1 DEPDC5 DMXL2 DOCK7 DOLK DPYD FGF12 GABBR2 GABRA1 GABRG2 GNAO1 GNB1 GRIN1 GRM7 KCNA1 KCNMA1 KCNQ2 KCNT1 LRPPRC MECP2 MED13L MYD88 NEUROD2 NPRL2 NPRL3 PCDH19 PIGA PIGP PIGQ PIGT PLCB1 PLPBP PNKP PPP3CA SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC12A5 SLC25A10 SLC25A22 SLC32A1 SPTBN1 ST3GAL5 STXBP1 SUOX TBC1D24 TRIM8 TUBB2A HP_MULTIFOCAL_SEIZURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_SEIZURES ADPRS ARV1 ATP1A3 BRAT1 CARS2 CDKL5 DNM1 FRRS1L GALNT2 NECAP1 PIGQ PIGS PPP2R5D SLC13A5 SMC1A TANGO2 TBCK TFE3 WARS2 HP_MULTINODULAR_GOITER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTINODULAR_GOITER ALMS1 DICER1 KEAP1 MAD1L1 SASH1 HP_MULTIPLE_BLADDER_DIVERTICULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_BLADDER_DIVERTICULA EFEMP2 FBLN5 LTBP1 LTBP4 MED12 HP_MULTIPLE_CAFE_AU_LAIT_SPOTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS ABCB6 AKT1 ARL6IP6 ATM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CEP57 CIB1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GNA11 IL7 KDM5C KLLN KRAS MAD2L2 MAN1B1 MAP2K1 MAP2K2 MLH1 MSH2 MSH6 NF1 PALB2 PCNT PDE11A PIK3CA PLXND1 PMS2 PRKAR1A PTEN RAD51 RAD51C RERE REV3L RFWD3 SDHB SDHC SDHD SEC23B SLX4 SPRED1 TMC6 TMC8 TP63 TRIP13 TWIST2 UBE2T USF3 XRCC2 HP_MULTIPLE_ENCHONDROMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ENCHONDROMATOSIS COL2A1 IDH1 IDH2 MAD1L1 POLR1B POLR1C POLR1D PTH1R PTPN11 TCOF1 HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA COL2A1 COL9A1 EIF2AK3 KIF7 MATN3 PEX7 PHYH RNU4ATAC SLC26A2 TRAPPC2 HP_MULTIPLE_EXOSTOSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EXOSTOSES ALX4 EXT1 EXT2 MSX2 PTPN11 RAD21 SHOX TRPS1 HP_MULTIPLE_GASTRIC_POLYPS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GASTRIC_POLYPS APC BMPR1A ENG MSH3 SMAD4 STK11 TREX1 HP_MULTIPLE_GLOMERULAR_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GLOMERULAR_CYSTS HNF1B MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MYOCD NPHP3 HP_MULTIPLE_IMPACTED_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_IMPACTED_TEETH CDH11 FLNA HOXD13 PTH1R SH3BP2 HP_MULTIPLE_JOINT_CONTRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_CONTRACTURES AARS1 ADAR ALG14 B3GALT6 BICD2 CARS1 CHRNG COL12A1 COL6A1 COL6A2 COL6A3 DNA2 DOK7 ERCC2 ERCC3 EXOSC9 FKRP FLNA FLRT1 GMPPB GPKOW GTF2E2 GTF2H5 IDH1 IFIH1 KIF21A KLC2 KY LARGE1 LMNA LSM11 MED12 MPLKIP MUSK MYBPC1 MYH7 MYOD1 MYOT NDE1 NUP88 PIGS PIP5K1C PMM2 POMT1 POMT2 RAPSN RBM28 RFC1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNU7-1 RTTN RYR1 SAMHD1 SELENON SLC18A3 SLC1A4 SLC39A14 TARS1 TGM1 TOR1A TREX1 TRIP4 TTN TUBA1A UBA1 VPS11 ZMPSTE24 HP_MULTIPLE_JOINT_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_DISLOCATION B3GALT6 B3GAT3 CHST3 EXOC6B GNB2 GZF1 KIF22 RNU4ATAC HP_MULTIPLE_LENTIGINES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LENTIGINES BRAF DSTYK KITLG KRAS MAP2K1 MAP2K2 MAPK1 NRAS PDE11A PRKAR1A PTPN11 RAF1 SHOC2 SMARCAL1 STK11 HP_MULTIPLE_LIPOMAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LIPOMAS ABCC6 AKT1 ALX1 ALX3 AP2S1 APC BMPR1A CCL2 CDKN1A CDKN1B CDKN2B CDKN2C ENPP1 FGFR1 FLCN FUZ GNA11 HEPACAM KCTD1 KRAS LEMD3 MEN1 MFN2 MSTO1 MT-ND5 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 PIK3CA PTEN SPRED1 TBXT VANGL1 VANGL2 ZSWIM6 HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS DGUOK DNA2 LIG3 MGME1 POLG POLG2 RRM2B SLC25A4 TWNK TYMP HP_MULTIPLE_MYELOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MYELOMA ASXL1 CCND1 GBA1 KIT LIG4 SRSF2 TET2 HP_MULTIPLE_PRENATAL_FRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_PRENATAL_FRACTURES ACTA1 ASCC1 CCDC134 COL1A1 COL1A2 CRTAP KLHL40 KLHL41 LBR LMOD3 MBTPS2 MESD NEB P3H1 PPIB TAPT1 TPM3 TRIP4 HP_MULTIPLE_PULMONARY_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_PULMONARY_CYSTS ABCA3 ATP11A DPP9 DSP FAM13A FLCN MUC5B PARN PI4KA RTEL1 SFTPA1 SFTPA2 SFTPC SREBF1 STN1 TERC TERT TTC7A WNT4 YARS1 HP_MULTIPLE_RENAL_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RENAL_CYSTS ALG5 ARVCF BAZ1B BCL7B BMPER BUD23 CCND1 CLIP2 COL4A1 COMT DACT1 DHX16 DNAJC30 EIF4H ELN FKBP6 FLNB GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA JMJD1C LIMK1 LRP5 METTL27 MLXIPL NCF1 NOTCH2 OCRL PEX13 PKD2 PMM2 PRKCSH RFC2 RREB1 SALL1 SEC24C SEC63 STK11 STX1A TBL2 TBX1 TMEM270 TSC1 TSC2 UFD1 VHL VPS37D HP_MULTIPLE_RIB_FRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RIB_FRACTURES CREB3L1 CRTAP SERPINH1 TAPT1 TNFRSF11A TRIP11 HP_MULTIPLE_ROWS_OF_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ROWS_OF_EYELASHES CDH1 CTNND1 DLX4 FOXC2 HSPG2 PRR12 PUS1 TWIST2 YARS2 HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS ARVCF COMT ERF FGFR2 GP1BB HIRA JMJD1C RREB1 SEC24C TBX1 TWIST1 UFD1 HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION AARS2 AGK ATP5F1A BRAT1 CAV3 COA3 COA8 COX10 COX6A2 COX6B1 DGUOK DNA2 ETHE1 FARS2 FDX2 FOXRED1 GTPBP3 ISCU LIG3 LRPPRC MGME1 MIEF2 MRPL44 MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW NDUFA1 NDUFA11 NDUFA4 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL OPA1 PNPLA8 PNPT1 POLG POLG2 PUS1 RNASEH1 RRM2B SLC25A10 SLC25A4 SLC25A42 SUCLG1 SURF1 TACO1 TFAM TIMMDC1 TK2 TMEM126B TOP3A TRMT5 TRMU TWNK TYMP YARS2 HP_MUSCLE_FIBER_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_ATROPHY ACTA1 ACTN2 ADGRG6 AGRN ALDOA ALG14 ALS2 ANO5 CASQ1 CHAT CHRNA1 CHRNE CNBP COL13A1 COLQ CPT2 EMD FHL1 FUS GFPT1 GOLGA2 HACD1 HEXB HNRNPA2B1 HNRNPK IFIH1 ITGA7 LAMA2 LAMB2 LMNA LPIN1 MAP3K20 MT-CO1 MT-CO3 MYH7 MYL2 MYO9A OBSCN ORAI1 PLOD1 PNPT1 POLG RYR1 SARS2 SELENON SIGMAR1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SPG11 SPTBN4 SPTLC1 STAC3 STIM1 SYNE1 SYNE2 SYT2 TK2 TMEM43 TPM2 TPM3 TRAPPC11 TRIP4 TTN VAMP1 VPS13A HP_MUSCLE_FIBER_CYTOPLASMATIC_INCLUSION_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_CYTOPLASMATIC_INCLUSION_BODIES ACTA1 ALG14 ALG2 CASQ1 CFL2 COX11 DPAGT1 FHL1 FLNC GFPT1 GMPPB KBTBD13 KLHL40 KLHL41 KY LMOD3 MYH7 MYO18B MYOT MYPN NDUFB3 NEB NEFL ORAI1 PYROXD1 RYR1 RYR3 SMPX STIM1 TNNT1 TPM2 TPM3 HP_MUSCLE_FIBER_INCLUSION_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_INCLUSION_BODIES ACTA1 ALG14 ALG2 CASQ1 CFL2 COX11 CRYAB DPAGT1 FHL1 FLNC GFPT1 GMPPB GNE GYG1 HNRNPA1 KBTBD13 KLHL40 KLHL41 KY LMOD3 MB MYH2 MYH7 MYO18B MYOT MYPN NDUFB3 NEB NEFL ORAI1 PYROXD1 RYR1 RYR3 SMPX STIM1 TNNT1 TPM2 TPM3 UNC45B HP_MUSCLE_FIBER_NECROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_NECROSIS ACTA1 BVES COL6A1 COL6A2 COL6A3 DHX16 MEGF10 MLIP PHKA1 POLG POPDC3 SGCA SGCG SMN1 TWNK VMA21 HP_MUSCLE_FIBER_SPLITTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_SPLITTING ACTA1 ADSS1 ALDOA ANO5 CAPN3 CHRNB1 CRYAB DNAJB6 DYSF FLNC LDB3 MAP3K20 NEB NEFH PLEC PLIN4 SGCG TNXB TRPV4 TTN HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS ALG14 ALG2 CASQ1 DPAGT1 GFPT1 GMPPB ORAI1 STIM1 HP_MUSCLE_FIBRILLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBRILLATION ADPRS AGTPBP1 AIFM1 ASAH1 ATP11A ATP1A2 ATXN10 ATXN3 BIN1 CACNA1A CCNF CFL2 CHCHD10 DENND5A DNM2 DYSF EGR2 EXOSC3 EXOSC8 EXOSC9 FXR1 GARS1 GYG1 HINT1 HSPB1 IFRD1 KCNK9 LGI3 MEGF10 MPZ MTMR14 MYF6 NDUFS4 NOP56 OPTN PMP22 POLG PRRT2 PRUNE1 PRX RMND1 RYR1 SBF1 SCN1A SETX SH3TC2 SLC25A21 SLC25A46 SLC52A2 SLC52A3 SMN1 SMN2 SPTLC1 SYT2 TBC1D24 TBCD TFG TOE1 TRAK1 TSPYL1 TTC19 TWNK UBA1 VCP VRK1 VWA1 HP_MUSCLE_FLACCIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FLACCIDITY CACNA1S COL1A1 COL1A2 GABRA3 INPP5K KCNE3 KCNJ18 KCNJ2 KCNJ5 LAMP2 PEX1 PEX6 PLEC SCN4A SIL1 UBE3B HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES ANO5 AR BIN1 CAPN3 CAV3 CHCHD10 CIDEC CLCN1 CRPPA DAG1 DHX16 DMD DNM2 DPM3 DYSF FKRP FKTN FRG1 GMPPB KCNA1 LAMA2 LARGE1 LIMS2 LMNA LTBP4 MAP3K20 MICU1 MTMR14 MYF6 MYH7 PLEC PLIN1 PMP22 POMGNT1 POMGNT2 POMT1 POMT2 POPDC3 RASA1 RYR1 SGCA SGCB SGCD SGCG SLC25A1 SMN1 SPG11 SRY TCAP TTN UNC45B VAPB HP_MUSCLE_SPASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_SPASM ABCB6 ACADM ACADVL ALDH18A1 ALDH4A1 ALG14 ALG2 AMPD1 AMPD3 ANG ANXA11 AR ATP1A1 ATP2A1 ATXN1 ATXN2 ATXN3 BSCL2 CACNA1S CADM3 CARMIL2 CASQ1 CASR CAV3 CCNF CFAP410 CHCHD10 CHMP2B CHRNE CLCNKB COL1A1 COL4A1 COL5A1 COL5A2 CPT2 CRPPA CYP17A1 DAO DCTN1 DGUOK DLD DMD DNA2 DNAJC13 DNAJC6 DOK7 DPAGT1 EIF4G1 EPHA4 ERBB4 FAR1 FBXO38 FDX2 FIG4 FKRP FKTN FLVCR1 FUS GABRA3 GARS1 GBA1 GBE1 GBF1 GFM2 GFPT1 GIGYF2 GLA GLE1 GLT8D1 GMPPB GNA11 GNAS HADHA HADHB HEXB HHAT HINT1 HNRNPA1 HPDL HSPB1 HTRA2 ISCU KCNA1 KCNJ1 KCNJ18 KPNA3 KY LAMA2 LAMP2 LDHA LPIN1 LRP12 LRRK2 MAP3K20 MATR3 MFN2 MICU1 MLIP MORC2 MPZ MT-ATP6 MT-CO1 MT-CO3 NEFH NEFL NEK1 OBSCN OPA3 OPTN ORAI1 PARK7 PFKM PFN1 PGAM2 PGK1 PHKA2 PHKB PHKG2 PIGG PINK1 PMP22 PODXL POLG POLG2 POMT1 PON1 PON2 PON3 PPARGC1A PRKN PRPH PUS7 PYGL PYGM REEP1 RNASEH1 RRM2B RTN2 RYR1 SCN4A SH3TC2 SLC12A1 SLC12A3 SLC16A1 SLC25A4 SMN1 SMN2 SNCA SOD1 SQSTM1 STIM1 STT3A STX16 SVIL SYNJ1 TAF15 TARDBP TBK1 TFG TRAPPC11 TREM2 TRPM6 TRPM7 TWNK UBAP1 UBQLN2 UCHL1 UNC13A VAPB VCP VPS13C VPS35 WASHC5 HP_MUSCLE_STIFFNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_STIFFNESS ABCD1 ACADVL ACTA1 ADAR ANO10 ANO5 AOPEP ARX ATAD1 ATP13A2 ATP2A1 CACNA1S CAV3 CAVIN1 CLCN1 CPT2 CRYAB DARS2 DHCR24 DNAJC6 DYSF FGFR1 GABRA3 GALC GLRA1 GLRB GPHN HINT1 HSPG2 IFIH1 INPP5K KAT6A KBTBD13 KCNA1 KCNJ18 KIF11 KIF1A KIF5A KLHL41 KPNA3 KRAS LDB3 LDHA LSM11 MAPT MLIP MT-ATP6 MYO5A MYOT MYPN NEB PANK2 PFKM PHKA1 PI4KA PODXL POLG PRKAR1B PSAP PYGM REEP2 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RYR1 SAMHD1 SCN4A SIL1 SLC16A1 SLC2A1 SLC6A5 SPAST SPG7 STIM1 SYNJ1 TK2 TNFRSF1A TPM2 TPM3 TREX1 VAMP1 ZFYVE26 HP_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_WEAKNESS AAAS AARS1 AARS2 ABCA1 ABCA2 ABCB6 ABCC8 ABCD1 ABHD16A ABHD5 ACAD9 ACADM ACADVL ACBD5 ACOX1 ACTA1 ACTL6B ACTN2 ACY1 ADA2 ADAR ADCY5 ADCY6 ADGRG1 ADK ADNP ADPRS ADSS1 AFG3L2 AGK AGL AGRN AGTPBP1 AHCY AIFM1 AK9 AKT1 ALAD ALAS2 ALDH18A1 ALDOA ALG13 ALG14 ALG2 ALS2 AMER1 AMPD1 AMPD3 ANG ANK1 ANKH ANO5 ANOS1 ANTXR1 ANXA11 AP2S1 AP3B2 AP3D1 AP5Z1 APTX AR ARMC5 ARSA ARV1 ARX ASAH1 ASCC1 ASPA ATG7 ATL1 ATL3 ATP13A2 ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6V1A ATP6V1E1 ATP7A ATP7B ATP9A ATPAF1 ATPAF2 ATRX ATXN1 ATXN2 ATXN3 ATXN7 B3GALNT2 B4GALNT1 B4GAT1 BAG3 BAP1 BCOR BCS1L BICD2 BICRA BIN1 BMP6 BMS1 BOLA3 BRAF BRCC3 BSCL2 BSND BTD BTNL2 BVES C19orf12 C9orf72 CACNA1A CACNA1B CACNA1G CACNA1S CACNA2D1 CADM3 CAMK2B CAMLG CAPN1 CAPN3 CASK CASQ1 CASR CAV1 CAV3 CAVIN1 CBL CCDC141 CCDC174 CCDC78 CCN2 CCN6 CCND1 CCNF CCR6 CD59 CDC73 CDH23 CDK19 CDKL5 CDKN2A CELF2 CEP126 CFAP410 CFL2 CHAT CHCHD10 CHD7 CHKB CHMP2B CHP1 CHRNA1 CHRNB1 CHRND CHRNE CHST14 CLCN1 CLCN2 CLCN7 CLCNKA CLCNKB CLP1 CLTC CNBP CNKSR2 CNNM2 CNOT1 CNTN1 CNTNAP1 COA7 COA8 COG8 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL4A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COQ2 COQ4 COQ6 COQ7 COQ8A COX10 COX20 COX4I1 COX6A1 COX6A2 COX6B1 CPLANE1 CPLX1 CPOX CPT1A CPT1C CPT2 CRLF1 CRPPA CRYAB CTNNB1 CYFIP2 CYP11B1 CYP11B2 CYP27A1 CYP27B1 CYP2R1 CYP7B1 D2HGDH DAG1 DALRD3 DAO DARS2 DCAF8 DCC DCTN1 DDHD1 DDHD2 DES DGUOK DHDDS DHFR DHH DHTKD1 DHX16 DKK1 DLL4 DMD DMP1 DMPK DMXL2 DNA2 DNAJB2 DNAJB4 DNAJB6 DNAJC19 DNM1 DNM2 DNMT1 DNMT3B DOK7 DOLK DPAGT1 DPM2 DPM3 DSE DSTYK DUSP6 DYM DYNC1H1 DYSF EARS2 EBF3 EEF1A2 EGR2 EHHADH EIF2AK3 EIF2B2 EIF2B3 ELOVL5 ELP2 EMD EMILIN1 ENPP1 EPB42 EPHA4 ERBB4 ERCC6 ERCC8 ERGIC1 ERLIN2 ETFA ETFB ETFDH EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EYA1 FA2H FAM111B FAR1 FARS2 FBLN5 FBN1 FBXO28 FBXO38 FDX2 FEZF1 FGD4 FGF12 FGF13 FGF17 FGF23 FGF8 FGFR1 FHL1 FIG4 FIP1L1 FKBP14 FKRP FKTN FLAD1 FLI1 FLNC FLRT3 FLVCR1 FMR1 FOXC2 FOXE1 FOXRED1 FRG1 FUCA1 FUS FXN FXR1 FXYD2 FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GALC GAN GARS1 GATM GBA2 GBE1 GBF1 GCH1 GCK GDAP1 GEMIN4 GFAP GFER GFM2 GFPT1 GGPS1 GIPC1 GJA1 GJB1 GJC2 GLE1 GLT8D1 GM2A GMPPB GNA11 GNAO1 GNAS GNB1 GNB2 GNB4 GNB5 GNE GNPTAB GOSR2 GPHN GPI GRIA3 GRIN1 GRIN2A GRIN2D GRM7 GSN GTPBP2 GYG1 HACD1 HADHA HADHB HAMP HARS1 HCN1 HESX1 HEXA HEXB HFE HINT1 HIVEP2 HJV HK1 HLA-B HLA-DQB1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HNRNPDL HNRNPK HOXB1 HPRT1 HS6ST1 HSD17B10 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HTT HYCC1 IBA57 IDS IFIH1 IFRD1 IFT140 IGHMBP2 IL12B IL17RD IMPDH2 INF2 INPP5E INPP5K IRAK1 IREB2 IRF2BP2 IRF4 IRF5 ISCU ITGA7 ITGB4 ITPR3 JAG1 JAG2 JPH1 KARS1 KBTBD13 KCNA1 KCNA2 KCNB1 KCNC2 KCNE3 KCNJ1 KCNJ10 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNK9 KIF1A KIF1B KIF5A KLHL24 KLHL40 KLHL41 KLHL9 KMT2D KPNA3 KRAS KY L1CAM LAMA2 LAMB2 LAMP2 LARGE1 LBR LDB3 LEMD2 LGI4 LIG3 LIMS2 LIPE LITAF LMNA LMNB1 LMOD3 LPIN1 LRIF1 LRP12 LRP4 LRP5 LRPPRC LRSAM1 LTBP4 LYRM4 LYRM7 LYST LZTR1 MAP2K2 MAP3K20 MAPT MARS1 MATR3 MB MCM3AP MDH2 MECR MED25 MEGF10 MEN1 MFF MFN2 MFSD2A MGME1 MICOS13 MICU1 MIEF2 MINPP1 MLIP MLX MME MORC2 MPV17 MPZ MRAS MRPL12 MRPS2 MRPS25 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTAP MTHFR MTM1 MTMR14 MTMR2 MTRFR MTTP MUSK MYBPC1 MYF6 MYH14 MYH2 MYH3 MYH7 MYL1 MYL2 MYMK MYMX MYO9A MYOT MYPN NABP1 NACC1 NADK2 NAGA NAGLU NARS2 NBN NDE1 NDNF NDP NDRG1 NDUFA1 NDUFA10 NDUFA11 NDUFA13 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEFH NEFL NEK1 NEU1 NEUROD2 NF1 NF2 NFE2L2 NFU1 NGLY1 NIPA1 NKX2-1 NKX2-5 NOD2 NONO NOP56 NOTCH2NLC NPM1 NR3C1 NR4A2 NRAS NSUN3 NTNG2 NTRK2 NUBPL NUMA1 NUP54 NUP62 NUS1 NUTM2B-AS1 OAT OBSCN OPA1 OPTN ORAI1 OSTM1 P4HA2 PABPN1 PACS2 PAFAH1B1 PARS2 PAX7 PAX8 PCLO PCNA PDCD1 PDE11A PDGFB PDK3 PDXK PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PFN1 PGAP2 PGK1 PGM1 PGM2L1 PHACTR1 PHKA1 PHKA2 PHKB PHKG2 PHYH PI4KA PIEZO2 PIGF PIGN PIGP PIGQ PIK3CA PIK3R5 PLA2G6 PLAA PLEC PLEKHG5 PLIN4 PLOD1 PLP1 PLXND1 PML PMM2 PMP2 PMP22 PMPCA PMPCB PNKD PNKP PNPLA2 PNPLA6 PNPLA8 PNPT1 POGLUT1 POLG POLG2 POLR3A POLR3GL POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 PON1 PON2 PON3 POPDC3 POU3F4 PPARGC1A PPOX PPP1R15B PPP3CA PREPL PRKACA PRKAR1A PRNP PROK2 PROKR2 PRORP PRPH PRPS1 PRRT2 PRX PSAP PSMB8 PTDSS1 PTEN PTPN11 PTPN22 PTRH2 PTS PUF60 PUS1 PYGM PYROXD1 RAB7A RAF1 RAI1 RALGAPA1 RANBP2 RAPSN RARA RARS1 RARS2 RASA1 RASA2 RBCK1 REEP1 RELA REV3L RFC1 RILPL1 RIT1 RNASEH1 RNF170 RNU12 RPS6KA3 RRAS RRAS2 RRM2B RTN2 RUSC2 RXYLT1 RYR1 RYR3 SACS SALL4 SARDH SARS1 SAT1 SBF1 SBF2 SCN11A SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCNN1A SCNN1B SCNN1G SCO2 SCYL1 SCYL2 SDHA SDHAF1 SDHB SDHD SECISBP2 SELENON SEMA3A SEMA3E SEPTIN9 SERPING1 SETX SFRP4 SGCA SGCB SGCD SGCG SH3TC2 SHMT2 SIGMAR1 SIK1 SIL1 SIX1 SIX5 SKI SLC12A1 SLC12A3 SLC12A6 SLC13A5 SLC16A2 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC22A5 SLC25A1 SLC25A12 SLC25A19 SLC25A20 SLC25A21 SLC25A22 SLC25A24 SLC25A26 SLC25A4 SLC25A42 SLC25A46 SLC26A4 SLC2A3 SLC32A1 SLC33A1 SLC34A1 SLC34A2 SLC34A3 SLC35A2 SLC38A3 SLC39A14 SLC39A8 SLC4A1 SLC52A2 SLC52A3 SLC5A6 SLC5A7 SLC7A7 SLC9A7 SMARCAL1 SMARCB1 SMARCE1 SMCHD1 SMN1 SMN2 SMO SMPD1 SMPX SNAP25 SNAP29 SNX10 SOD1 SORD SOS1 SOS2 SOST SOX10 SPARC SPART SPAST SPEG SPG11 SPG21 SPG7 SPP1 SPR SPRED2 SPRY4 SPTA1 SPTB SPTBN2 SPTBN4 SPTLC1 SPTLC2 SQSTM1 SRPX2 STAC3 STAG2 STAT1 STAT3 STAT4 STAT5B STIM1 SUCLA2 SUCLG1 SUFU SUPT16H SURF1 SVIL SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TACR3 TAF15 TAFAZZIN TANGO2 TARDBP TBCD TBCE TBCK TBK1 TBL1XR1 TCAP TCIRG1 TCN2 TDP1 TERT TFAP2A TFG TGFB1 TGM6 TIA1 TIMM50 TIMMDC1 TK2 TMEM126B TMEM165 TMEM43 TMEM63A TNFRSF11B TNNC2 TNNT1 TNPO3 TNR TNXB TOE1 TOP3A TOR1A TOR1AIP1 TP53 TPI1 TPM2 TPM3 TRAF7 TRAK1 TRAPPC11 TRAPPC6B TRDN TREM2 TREX1 TRH TRIM2 TRIM32 TRIM8 TRIP4 TRMT1 TRMT10A TRMT5 TRMU TRPM7 TRPV4 TSFM TSHR TTC19 TTN TTPA TTR TUBB3 TUBB6 TWNK TYMP UBA1 UBA2 UBA5 UBAP1 UBE2T UBE3B UBQLN2 UFC1 UNC13A UNC45B UQCC3 UQCRFS1 USP48 USP8 VAMP1 VAPB VARS1 VARS2 VCP VDR VHL VMA21 VPS13A VPS13D VPS50 VRK1 VWA1 WARS1 WARS2 WASHC5 WDR11 WWOX XK XRCC1 XRCC2 XYLT2 YARS1 YARS2 YME1L1 YWHAG YY1 ZBTB16 ZC4H2 ZFHX4 ZFTA ZFYVE26 ZFYVE27 ZNF526 ZNRF3 HP_MUSCULAR_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_DYSTROPHY ACTA1 AHCY ANO5 B3GALNT2 B4GAT1 BAG3 BUB1 BUB1B BUB3 BVES CAPN3 CAV3 CAVIN1 CEP57 CHKB COL12A1 COL4A1 COL6A1 COL6A2 COL6A3 CRPPA CRYAB DAG1 DMD DNAJB6 DPM1 DPM3 DYSF EMD FHL1 FKRP FKTN FRG1 GK GMPPB HNRNPA1 HNRNPDL INPP5K ITGA7 ITGB4 JAG2 LAMA2 LARGE1 LIMS2 LIPE LMNA MYH7 NPPA NR0B1 PIEZO2 PLEC PLIN4 PNKP POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 RYR1 SCN5A SELENON SGCA SGCB SGCD SGCG SIL1 SMCHD1 SYNE1 SYNE2 TCAP TMEM43 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TRIP13 TRIP4 TTN HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT ALG12 ATP6V0A2 DNAJC19 DPH2 DPH5 DSG1 GATA6 GET3 GJA5 GJA8 GNB2 MAP3K7 MYBPC3 MYCN NSD1 NUP188 PLD1 PPP2CA PSMC1 RNU4ATAC RPL3L STAG2 SVBP THOC6 WBP11 HP_MUTISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUTISM ACTB ACTG1 ADAMTS2 ADAMTSL2 AMER1 ASAH1 ATP1A3 CDKL5 CHCHD10 CHMP2B CKAP2L COL1A1 COL1A2 COX7B CSF1R EHMT1 FGFR1 FTL FUS GABBR2 GLE1 GRIN1 GRIN2A GRN HCCS HNRNPA1 HNRNPA2B1 HTT KRAS MAPT MECP2 NDUFA6 NDUFB11 NTNG1 PIK3C2A PLEC PRDM8 PRPS1 PSEN1 SETBP1 SLC19A3 SLC2A3 SLC9A6 SMARCA2 SMC1A SQSTM1 TARDBP TBK1 TBP TCF4 TMEM106B TRANK1 TREM2 UBE3C VCP HP_MYALGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYALGIA ACAD9 ACADM ACADVL ACP5 ADA2 ALDH4A1 ALDOA ALMS1 AMPD1 AMPD3 ANK1 ANKRD55 ANO5 APC ARVCF ASXL1 ATP2A1 BIN1 BVES C4A CAPN3 CASQ1 CAV3 CAVIN1 CCDC78 CCR1 CD247 CHCHD10 CLCN1 CLCNKB CNBP COMT COX6B1 CPT2 CR2 CRPPA CTLA4 CTNNB1 DCC DGUOK DMD DNA2 DNAJB6 DNAL4 DNASE1L3 DNM1L DNM2 DSE DYSF ENO3 EPB42 ERAP1 EXT1 EXT2 FAS FDX2 FKRP FKTN FLNC FMR1 GLA GP1BB HADHA HADHB HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNRNPA1 HPDL HSPG2 IFNGR1 IGHG2 IGKC IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IRF4 JMJD1C KIT KLRC4 KY LBR LDHA LMNA LMNB1 LPIN1 LPIN2 MATR3 MDM4 MEFV MIEF2 MLIP MLX MOCOS MRPS2 MSTO1 MT-CO1 MT-CO3 MT-TE MT-TK MT-TL1 MTMR14 MTTP MVK MYF6 MYH7 MYOT NLRC4 NLRP12 NLRP3 NOD2 NTN1 OBSCN OPA1 ORAI1 OTULIN P4HA2 PDGFRA PFKM PGAM2 PGK1 PHKA1 PHKA2 PHKB PHKG2 PNPLA2 POLG POLG2 POLR3A POMT1 PPARG PRDM5 PRORP PRTN3 PTPN2 PTPN22 PYGM RAD51 RBCK1 RNASEH1 RREB1 RRM2B RYR1 SCN4A SCN9A SDHA SEC24C SH3TC2 SLC12A3 SLC25A4 SLC25A42 SLC4A1 SPTA1 SPTB SRSF2 STAT4 STIM1 SVIL TBX1 TET2 TK2 TLR4 TMEM126B TNFRSF1A TNXB TRAPPC11 TRIM32 TWNK UBAC2 UFD1 VCP VWA1 ZNF469 HP_MYDRIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYDRIASIS ACTA2 ATP1A2 ATP1A3 BAP1 CACNA1A CYSLTR2 GNA11 GNAQ LOXL1 MYH11 MYL9 OSTM1 PEX10 SF3B1 SLC1A3 TMEM53 HP_MYELIN_OUTFOLDINGS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELIN_OUTFOLDINGS MPZ MTMR2 NEFL PMP22 SBF1 SBF2 SOX10 HP_MYELODYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELODYSPLASIA ADA2 ADH5 ANAPC1 ASXL1 ATRX BLM BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 CALR CDKN2A CEP57 CHEK2 CLPB CSF3R DDX41 DKC1 DNAJC21 EFL1 ELANE ERBB3 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GATA1 GATA2 GFI1 GINS1 GNB1 H4C9 HAX1 HEATR3 HSCB HSPA9 JAK2 KIT LIG4 MAD2L2 MDM2 MPL MYSM1 NAF1 NAGS NBEAL2 NF1 PALB2 PTPN11 RAD51 RAD51C RAF1 RECQL4 RFWD3 RPA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SBDS SF3B1 SH2B3 SLX4 SMARCD2 SRP19 SRP54 SRP72 SRSF2 TCIRG1 TERC TERT TET2 THPO TINF2 TP53 TRIP13 TSR2 UBA1 UBE2T XRCC2 HP_MYELOFIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOFIBROSIS CALR GFI1B JAK2 MPIG6B MPL NBEAL2 SH2B3 SHOC2 SRC TBXAS1 TET2 TLR8 TP53 HP_MYELOID_LEUKEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOID_LEUKEMIA ARHGAP26 ASXL1 BRAF CBL DNMT3A F13A1 F13B GATA2 IDH1 KIT KRAS MAP2K1 NF1 NRAS PTPN11 SAMD9L SETBP1 SRSF2 TERC TERT TET2 HP_MYELOMENINGOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOMENINGOCELE ALX4 ARPC4 BMPER CCL2 DACT1 FLNA FRAS1 FREM2 FUZ GLI3 GRIP1 H19 HES7 HNRNPK IGF2 KCNQ1OT1 MSX2 OFD1 PAX3 PORCN SC5D SIN3A SMO SNRPB TBXT VANGL1 VANGL2 ZIC3 HP_MYELOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPATHY ABCD1 ARSB BTD COL2A1 CYP27A1 DKK1 EXT1 EXT2 GALNS GLB1 GNPTAB NAXE NF2 NMNAT1 RASA1 HP_MYELOPROLIFERATIVE_DISORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPROLIFERATIVE_DISORDER ABL1 ALAD ASXL1 BCR CALR GATA1 GATA2 JAK2 KIT MPL PDGFRA PDGFRB RUNX1 SH2B3 SRSF2 TET2 HP_MYOCARDIAL_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDIAL_FIBROSIS ACTC1 ALMS1 DOLK FKTN FLNC JPH2 KIF20A LAMP2 LMNA MYH7 MYL2 MYPN PPA2 RPL3L SERPINE1 TNNI3 TNNT2 TRIM37 HP_MYOCARDIAL_INFARCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDIAL_INFARCTION ABCA1 ABCC6 ABCC9 ABCG5 ABCG8 ADAMTS13 APOB ATRX BAZ1B BCHE BCL7B BRAF BUD23 C4A CALR CBS CCND1 CCR1 CDH23 CELA2A CEP19 CFTR CLIP2 CTNNB1 CYP27A1 DNAJC30 DYRK1B EIF4H ELN ENPP1 EPOR ERAP1 FAS FKBP6 GATA4 GATA5 GATA6 GJA5 GLA GTF2I GTF2IRD1 GTF2IRD2 HGD HLA-B IFNGR1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R IRF4 JAK2 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNQ1 KLRC4 LDLR LDLRAP1 LIMK1 LMNA LPL LRP6 MEF2A MEFV METTL27 MLX MLXIPL MPL MYH9 MYL4 NCF1 NKX2-5 NKX2-6 NPPA NR3C1 NUP155 PCSK9 PIGA PITX2 PTPN11 RAF1 RFC2 SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SCNN1B SCNN1G SH2B3 SLC2A10 STAT4 STX1A TBL2 TET2 THOC2 TLR4 TMEM270 TP53 TTN UBAC2 USP48 USP8 VHL VPS37D WRN ZMPSTE24 HP_MYOCARDITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDITIS CCND1 GPX4 IRF4 PPA2 SLC2A10 VHL HP_MYOCLONIC_ABSENCE_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_ABSENCE_SEIZURE CACNA1H DHDDS FRRS1L GABRA1 GABRB3 GABRG2 GRIN2A JRK KCNMA1 NADK2 SCN1A SETD1B SLC2A1 SYNGAP1 HP_MYOCLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SEIZURE AARS1 ABCC8 ADGRG1 ADGRV1 AFG3L2 ALDH5A1 ALDH7A1 ALG13 AP2M1 AP3D1 APC2 ARFGEF1 ARX ASAH1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATPAF1 ATPAF2 BRAT1 BTD BUB1B CACNA1A CACNA1B CACNA1C CACNA1D CAMK2A CAMTA1 CARS2 CDC40 CDKL5 CEP85L CHD2 CHD3 CIC CILK1 CLCN2 CLCN3 CLN3 CLN5 CLN8 CLPB CNPY3 COL18A1 COX8A CPLX1 CSNK2B CTNNA2 CTSD CUX2 D2HGDH DALRD3 DENND5A DHDDS DHFR DMXL2 DNAJC5 DNM1 DNM1L DPAGT1 DPH5 DPM1 DPM2 DYRK1A EEF1A2 EFHC1 ELOVL4 EPM2A EXOC7 EXOC8 EXOSC5 EXTL3 FARS2 FBXO28 FZR1 GABBR2 GABRA1 GABRA5 GABRB3 GABRD GABRG2 GAD1 GALC GAMT GBA1 GCK GLB1 GM2A GNB1 GOSR2 GPAA1 GPHN GRIK2 GRIN1 GRIN2A GRIN2B GRN HACE1 HCN1 HCN4 HEXB HID1 HYMAI IER3IP1 INS KCNA2 KCNC1 KCNC2 KCNJ11 KCNMA1 KCNQ2 KCNT1 KCNT2 KCTD7 KIF11 KNSTRN LMNB2 LNPK MACF1 MAPK10 MAST3 MBOAT7 MDH2 MECP2 MED11 MFSD8 MICOS13 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR NARS1 NAXE NBEA NCDN NDE1 NDUFA1 NDUFAF3 NDUFV1 NEU1 NEXMIF NGLY1 NHLRC1 NSD1 NTNG1 NUS1 OPHN1 PACS2 PAFAH1B1 PCDH12 PCDH19 PDX1 PGAP2 PGAP3 PHGDH PIGA PIGL PIGQ PIGT PIK3CD PLAGL1 PLCB1 PLPBP POLG POU4F1 PPFIBP1 PPIL1 PPP1R21 PPP3CA PRDM8 PRICKLE1 PRUNE1 PSAP PTEN PTPN23 PTRH2 PYCR2 RAB18 RBL2 RFX7 ROGDI RTN4IP1 SAMD12 SATB1 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF1 SDHB SDHD SEPSECS SETD1B SETD2 SIK1 SLC12A5 SLC1A2 SLC25A15 SLC25A22 SLC2A1 SLC38A3 SLC6A1 SMC1A SMS SPATA5 SPATA5L1 ST3GAL3 STAT3 STX1B STXBP1 SYNGAP1 SYNJ1 TANGO2 TBC1D24 TGFB1 TMEM231 TRAPPC9 TRIT1 TSEN15 TSEN2 TSEN34 TSEN54 UFC1 VPS53 YWHAG ZNF526 HP_MYOCLONIC_SPASMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SPASMS AKT1 BAP1 BRAT1 GNAS INPP5E MOCS1 MOCS2 MT-ATP6 NF2 PDGFB PIK3CA SLC1A4 SMARCB1 SMARCE1 SMO STX16 SUFU TERT TRAF7 TXN2 HP_MYOCLONIC_STATUS_EPILEPTICUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_STATUS_EPILEPTICUS ASAH1 FBXO28 GOSR2 KCTD7 SLC1A2 HP_MYOCLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONUS AARS1 ABCA7 ABCD1 ACTL6B ADAR ADCY5 ADRA2B ADSL AFF3 AFG3L2 AKT1 AKT3 AMT ANO3 AP2M1 AP3B2 AP5Z1 APOE APP ARV1 ARX ASAH1 ATAD1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP6V1B2 ATXN2 BAP1 BOLA3 BRAT1 BSCL2 CACNA1A CACNA1B CACNA1E CACNA1H CACNA2D1 CACNB4 CARS2 CASK CASR CCDC88A CDK19 CDKL5 CELF2 CERS1 CHD2 CHMP2B CIC CILK1 CIZ1 CLCN2 CLCN4 CLN3 CLN5 CLN6 CLN8 CLPB CLTC CNKSR2 CNPY3 CNTN2 COG8 COQ2 COQ5 COQ8A COX4I1 CPLX1 CRLS1 CSTB CTNND2 CTSF CUX2 CYFIP2 CYP27A1 DAB1 DALRD3 DDC DENND5A DHDDS DHFR DMXL2 DNAJC5 DNAJC6 DNM1 DOCK7 DRD2 DTYMK EEF1A2 EFHC1 EIF2AK2 ELOVL5 EPM2A FARS2 FBXO28 FBXO7 FGF12 FGF13 FOXRED1 FRMD5 FRRS1L FTL FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GAMT GBA1 GFAP GLB1 GLDC GLRA1 GLRB GLRX5 GLYCTK GNA11 GNAO1 GNAS GNB1 GOSR2 GPHN GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 GUF1 HCN1 HEXB HIBCH HLA-DQB1 HMGCL HNRNPU HTT INPP5E IRF4 JAG1 JRK KCNA1 KCNA2 KCNB1 KCNC1 KCNC2 KCNC3 KCND3 KCNN2 KCNQ2 KCNQ3 KCTD17 KCTD7 KIF1B KIF1C KIF5A KMT2B LIAS LIG3 LMNB2 MAPK10 MAPT MARCHF6 MECP2 MECR MINPP1 MOCS1 MOCS2 MRE11 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TW MTOR MTPAP NAGA NARS1 NAXD NDUFA1 NDUFA4 NDUFAF3 NDUFV1 NECAP1 NEU1 NEUROD2 NF2 NFASC NFU1 NGLY1 NHLRC1 NHLRC2 NKX2-1 NOL3 NOP56 NPTX1 NTNG1 NTRK2 NUP214 NUP54 NUP62 NUS1 OCA2 PACS2 PARS2 PCDH19 PDGFB PDHA1 PET100 PGAP2 PGAP3 PGM3 PHACTR1 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3CA PLA2G6 PLCB1 PLPBP PNKP PNPO PODXL POLG POLR1C POMGNT1 PPP3CA PPT1 PRDM8 PRDX3 PRICKLE1 PRKCG PRNP PRRT2 PSAP PSAT1 PSEN1 PSEN2 PTCD3 PTS PURA QDPR RAPGEF2 RFT1 RMND1 RORA RORB SAMD12 SATB1 SC5D SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHA SDHD SEMA6B SERPINI1 SGCE SIK1 SLC13A5 SLC1A2 SLC1A4 SLC25A10 SLC25A12 SLC25A19 SLC25A22 SLC25A46 SLC2A1 SLC2A3 SLC32A1 SLC38A3 SLC6A1 SLC6A5 SLC7A6OS SMARCB1 SMARCE1 SMC1A SMO SMS SNCA SORL1 SOX10 SPTAN1 ST3GAL3 ST3GAL5 STAMBP STARD7 STX16 SUCLG1 SUFU SYNGAP1 SYNJ1 SZT2 TAF1 TBC1D24 TBP TERT TH THAP1 TIMMDC1 TMEM231 TNRC6A TOE1 TOMM40 TOR1A TPP1 TRAF7 TRAK1 TRAPPC12 TREM2 TRIM8 TSEN54 TSPOAP1 TSPYL1 TWNK TXN2 TYROBP UBA5 UBE3A UFC1 VPS13D VPS41 VPS53 WDR45 WWOX YEATS2 YRDC YWHAG ZNHIT3 HP_MYOFIBER_DISARRAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBER_DISARRAY ACTC1 ACTN2 LMOD2 MYBPC3 MYL2 PRKAG2 SCO2 SMPX TNNI3 VCL HP_MYOFIBRILLAR_MYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBRILLAR_MYOPATHY ACTA1 AKT1 BAG3 DNAJB6 FHL1 FLNC KLHL40 LDB3 MYOT PTEN TTN HP_MYOGLOBINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOGLOBINURIA ACADVL ALDOA ANO5 CACNA1S COQ2 CPT2 CRPPA DMD FDX2 FKRP HADH HADHA HADHB ISCU LDHA LPIN1 MLIP MT-CO1 MT-CO3 OBSCN PFKM PGAM2 PGK1 PHKA1 PHKA2 PHKB PHKG2 PYGM RYR1 SGCB TANGO2 HP_MYOKYMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOKYMIA ABCD1 ADCY5 ATP13A2 ATP2A1 CACNA1G GSN HINT1 KCNA1 KCNQ2 LGI3 MORC2 PNKD PNPT1 PPP2R2B PRKCG SOD1 SPTBN2 TBCK UCHL1 HP_MYOPATHIC_FACIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHIC_FACIES ACTA1 BCL11B CCDC174 CERT1 COL25A1 DMXL2 DPM2 EBF3 ERGIC1 GFM2 GIPC1 GLE1 GMPPB GOSR2 HACD1 HOXB1 ITGA7 KCNH1 KLHL41 KNSTRN LAMA2 LRP12 MAP3K20 MSTO1 MYH2 MYH7 MYL1 MYL2 NEB NOTCH2NLC PIEZO2 PIK3CD PTRH2 PURA PYROXD1 RILPL1 RYR1 SCYL2 SELENON SGCB SLC16A2 SLC52A3 SLC6A8 SLC6A9 SLC9A7 SPTBN4 STAC3 TAFAZZIN TANGO2 TNNT1 TNPO2 TPM2 TPM3 UBA1 VAMP1 VPS41 HP_MYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHY ABCC9 ABHD5 ACACA ACAD9 ACADM ACADS ACTA1 ACTC1 ACTN2 ADGRG6 ADSS1 AGK AGL AGRN AK9 AKT1 ALDOA ALG14 ALG2 ALPL AMPD1 ANKRD1 ANO5 AP1S2 B3GALNT2 B4GALT1 BAG3 BAG5 BAZ1B BCL7B BIN1 BSCL2 BUD23 C1QBP CACNA1S CAP2 CAPN3 CASQ1 CASZ1 CAV3 CCDC174 CDON CENPF CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHST14 CISD2 CLIP2 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COMP CPT2 CRPPA CRYAB CSRP3 CTNS DES DHX16 DISP1 DLL1 DMD DNA2 DNAJB4 DNAJB6 DNAJC30 DNM1L DNM2 DOK7 DOLK DPAGT1 DPM3 DSE DSG2 DSP DYSF EIF4H ELN EMD EPG5 ERGIC1 FGF8 FGFR1 FHL1 FHL2 FKBP14 FKBP6 FKRP FKTN FLAD1 FLNC FOXH1 FXR1 G6PC3 GABRD GAS1 GATAD1 GCLC GFER GFPT1 GIPC1 GK GLI2 GMPPB GNE GTF2I GTF2IRD1 GTF2IRD2 GYG1 HADHA HADHB HAND2 HNRNPA1 HNRNPA2B1 HNRNPDL HSPG2 INPP5K ISCU JAG2 JPH2 KBTBD13 KCNAB2 KLHL40 KLHL41 KLHL9 LAMA4 LAMB2 LAMP2 LARGE1 LDB3 LIMK1 LIPE LMNA LMNB2 LMOD2 LMOD3 LRP12 LRP4 LUZP1 MAN2B1 MATR3 MEGF10 METTL27 MGME1 MLXIPL MMP23B MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTAP MTMR14 MTTP MUSK MYBPC1 MYBPC3 MYF6 MYH14 MYH2 MYH6 MYH7 MYMK MYMX MYO18B MYO9A MYOD1 MYOT MYPN NALCN NARS2 NCF1 NDUFA11 NDUFAF1 NDUFAF4 NDUFB3 NDUFS2 NEB NEFH NEFL NEXN NODAL NUBPL OPA1 ORAI1 PABPN1 PANK2 PDPN PGAM2 PGK1 PLEC PLN PLOD1 PNPLA2 POLG POLG2 POLRMT POMGNT1 POMT1 POMT2 PPARG PPCS PRDM16 PRKAG2 PRKCZ PSEN1 PSEN2 PTCH1 PTEN PUS1 RAF1 RAPSN RBM20 RERE RET RFC2 RILPL1 RMND1 RPL3L RRM2B RYR1 SAR1B SCN4A SCN5A SCO2 SDHA SDHAF1 SDHB SDHD SELENON SGCA SGCB SGCD SGCG SHH SIL1 SIX3 SKI SLC18A3 SLC22A5 SLC25A1 SLC25A3 SLC25A4 SLC5A7 SNAP25 SPEN SQSTM1 STIM1 STX1A SUFU SVIL SYNE1 SYNE2 SYT2 TAF1A TAFAZZIN TANGO2 TBCE TBL2 TCAP TDGF1 TGIF1 TIA1 TK2 TKFC TMEM270 TMEM43 TMPO TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TPI1 TPM1 TPM2 TPM3 TRAPPC11 TRIM32 TRIP4 TRMU TTN TWNK TXNRD2 UBA1 UBE4B UNC45B UNC80 VAMP1 VCL VCP VEZF1 VMA21 VPS13A VPS37D VWA1 WFS1 XDH XK YARS2 ZBTB20 ZIC2 HP_MYOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIA AARS1 ABCC6 ACOX1 ACSL4 ADAMTS10 ADAMTS17 ADAMTS18 ADAMTS2 ADAMTSL1 ADAMTSL4 ADGRV1 AEBP1 AFF4 AGBL5 AGK AHDC1 AIFM1 AKT1 ALDH18A1 ALDH3A2 AMMECR1 ANKRD11 ANTXR1 AP1B1 AP3D1 APC2 ARCN1 ARID1A ARID1B ARID2 ARL6 ARR3 ASPH ASXL1 ATAD3A ATF6 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX B3GALNT2 B3GALT6 B3GLCT B4GALT1 BAP1 BAZ1B BBS1 BCL11B BCL7B BFSP2 BICRA BLOC1S3 BMP4 BPTF BRAF BRD4 BUD23 C12orf57 CABP4 CACNA1F CACNA2D4 CAMK2G CAMTA1 CANT1 CARS1 CASK CBS CCDC28B CCNQ CDC45 CDK8 CFAP418 CHM CHMP1A CHST14 CLDN16 CLDN19 CLIP2 CNGA3 CNGB3 COL11A1 COL11A2 COL12A1 COL18A1 COL1A2 COL25A1 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL9A1 COL9A2 COL9A3 COX7B CPSF1 CRIPT CRPPA CRYAA CRYAB CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTNNB1 CYP1B1 CYP4V2 DAG1 DEAF1 DNAJC21 DNAJC30 DOHH DPF2 DPH5 DPYD DSE DYRK1A EED EFEMP1 EFL1 EIF2S3 EIF4H ELN ELOVL4 ELP1 EMC1 ENPP1 EPHA2 ERBB3 ERCC2 ERCC3 EXOSC2 EXOSC5 FANCI FBN1 FBN2 FBXW11 FGFR2 FGFR3 FKBP14 FKBP6 FKRP FKTN FLII FLNA FN1 GJA1 GJA8 GJC2 GLE1 GLRA2 GLRB GMPPB GNAT1 GNAT2 GNB3 GNPTG GPAA1 GPR143 GPR179 GRK1 GRM6 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GZF1 H4C3 H4C5 HACE1 HADHA HCCS HDAC8 HERC1 HERC2 HNRNPK HS6ST2 HSPG2 HTT HUWE1 IFIH1 IFT122 IFT27 IFT43 IFT52 IGF1 IPO8 IQSEC2 IRX5 JAG1 KAT5 KAT6A KCNE5 KCNH1 KCNV2 KDM5B KDM5C KIAA0586 KIF11 KLLN KRAS LAMA1 LAMB2 LARGE1 LCA5 LIG4 LIMK1 LOX LOXL3 LRAT LRIT3 LRP2 LRPAP1 LRRC32 LTBP2 MADD MAF MAGEL2 MAN2B1 MAP2K1 MAP2K2 MBD5 MBTPS2 MC1R MED12L MED13L METTL27 MFSD8 MKRN3 MLXIPL MPLKIP MSX2 MYO1H MYO5A MYO7A MYOC NALCN NBAS NCF1 NDP NDRG1 NDUFB11 NEDD4L NFIX NIPBL NMNAT1 NONO NOTCH2 NPAP1 NPR3 NR2F1 NRAS NSD1 NSUN2 NT5C2 NYX OAT OCA2 OFD1 OPN1LW OPN1MW OPTN P3H2 P4HA2 P4HTM PACS1 PACS2 PAK2 PAX2 PDE6B PDE6C PDE6H PDZD7 PDZD8 PIGT PIK3CA PIK3R1 PLOD1 PLOD3 PMM2 PNPLA6 POC1B POGZ POLR1C POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 PPP1R21 PPP2R5D PRDM5 PRIMPOL PRPS1 PRR12 PSMD12 PTEN PTPN11 PUF60 PURA PWAR1 PWRN1 RAB28 RAD21 RAI1 RBM10 RECQL4 RERE RFC2 RHO RHOA RIN2 RMRP RNF113A RP1 RP2 RPE65 RPGR RPL10 SAG SCO2 SDHB SDHC SDHD SEC23B SETBP1 SETD2 SETD5 SHOC2 SKI SLC12A6 SLC24A1 SLC25A4 SLC2A10 SLC39A5 SLITRK6 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMS SNORD115-1 SNORD116-1 SNRPN SON SOX10 SOX11 SOX4 SOX5 SOX9 SPATA7 SRCAP STX1A TAF1 TARS1 TBC1D24 TBC1D7 TBL2 TCF20 TCF4 TDO2 TEAD1 TFAP2A TFAP2B TFE3 TGFBI THG1L THOC6 TIMM8A TKFC TLK2 TMEM270 TMEM63A TMEM94 TNPO2 TRAPPC11 TRIT1 TRNT1 TRPM1 TSPAN7 TTC8 TTLL5 TTR TUB TULP1 TWIST2 TYR UBE3A UBE3B UCHL1 UNC119 USF3 USH2A USP7 USP9X VARS1 VCAN VPS13B VPS37D VPS50 WAC WDR19 WDR26 WDR35 WHRN XYLT1 XYLT2 YME1L1 ZEB2 ZFHX4 ZNF408 ZNF469 ZNF644 ZSWIM6 HP_MYOPIC_ASTIGMATISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIC_ASTIGMATISM ARPC4 BLOC1S3 CNGA3 COL1A2 KIF11 MAPK8IP3 TFE3 VARS1 HP_MYOSITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOSITIS ADAR C4A CAPN3 CCR1 ERAP1 FAS FOXP3 HLA-B HNRNPA2B1 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRAK1 IRF4 KLRC4 LAMA2 LPIN1 LSM11 MEFV MT-CO1 MT-CO3 OBSCN PSMB4 PSMB9 PSMG2 PSTPIP1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SAT1 SPP1 STAT4 STING1 TLR4 TNFRSF1A TREX1 UBAC2 HP_MYOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOTONIA ACTA1 ANO5 ATP2A1 CACNA1A CACNA1S CAV3 CAVIN1 CLCN1 CNBP COX11 DMPK DNAJB6 EMD FHL1 GABRA3 HINT1 HSPG2 KCNA1 KCNE3 KCNJ18 LIFR LMNA PFKM PURA SCN4A SGCG SVIL SYNE1 SYNE2 TMEM43 TTI2 UCHL1 VAPB VMA21 HP_NAEVUS_FLAMMEUS_OF_THE_EYELID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID ASXL1 DIS3L2 DVL1 DVL3 FZD2 PUF60 WNT5A HP_NAIL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSPLASIA AARS1 ABCA1 ALG3 ANAPC1 ANGPT2 ANTXR1 ARX ATP2A2 ATP6V1B2 ATR BHLHA9 BMP2 BMP4 CARS1 CDH1 CLEC7A COL7A1 CPLX1 CTBP1 CTC1 CTNND1 CTSK DKC1 DPM1 DVL1 DVL3 DYNC2LI1 ECE1 EDA EDAR EDARADD EED EFNB1 EOGT ERCC2 ERCC3 EVC EVC2 EXT2 EZH2 FAM111B FERMT1 FGF10 FGFR2 FGFR3 FGFRL1 FHL1 FLNA FLT4 FOXN1 FZD2 FZD6 GJA1 GJB2 GJB6 GJC2 GLI1 GLI3 GPC3 GPC4 GTF2E2 GTF2H5 H3-3B HHAT HLA-C HOXC13 HPGD HRAS IFT43 IHH IKBKG IL11RA IL17F IL17RA IL17RC INSR ITGB4 KCTD1 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LETM1 LMX1B LPAR6 LRP4 MBTPS2 MMP1 MPLKIP MSX1 NECTIN1 NFKB2 NSD1 NSD2 NTRK1 NXN ORC1 PEX7 PHYH PIEZO1 PIGV PLCD1 PLEC PLOD3 POC1A POMP POP1 PORCN PRKACA PRKACB PTDSS1 RECQL RECQL4 RIPK4 RLIM RNF113A RNF13 RNU4ATAC ROR2 RPS6KA3 SATB2 SETBP1 SHANK3 SIN3A SLC24A4 SLC39A4 SMARCD2 SOST SREBF1 SRY STIM1 STXBP1 SUZ12 TAF1 TARS1 TBC1D24 TCF4 TERC TERT TFAP2A TGM1 TINF2 TP63 TRAF3IP2 TRPS1 TRPV3 TRRAP UFC1 VEGFC WDR35 WNT10A WNT5A WNT7A HP_NAIL_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSTROPHY AAGAB AARS1 ABCA1 ACD AIRE ANAPC1 AP1S3 ATL1 ATP2A2 ATP6V1B2 ATR BANF1 BRAF CARS1 CD151 CD28 CDSN COL14A1 COL17A1 COL7A1 COX7B CSTA CTC1 CTLA4 CTSC DCLRE1B DKC1 DNAJC21 DSG1 DSP DST ERCC2 ERCC3 EVC EVC2 FLNA FOCAD FOXN1 FOXP3 GJA1 GJB2 GJB6 GRHL2 GSN GTF2E2 GTF2H5 HLA-B HOXC13 HPGD IKBKG IL36RN IL6ST ITGA3 ITGA6 ITGB4 JUP KDF1 KIF15 KIF1A KLHL24 KMT2D KRAS KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LMNA LORICRIN LSS MAF MAP2K1 MAP2K2 MARS1 MBTPS2 MMP1 MPLKIP MTX2 MVK NAF1 NECTIN1 NFKB2 NFKBIA NHP2 NLRP1 NOP10 NOTCH1 NPM1 NTRK1 PARN PERP PEX1 PEX6 PI4KA PKP1 PLEC POMP PORCN PQBP1 RAB7A RBCK1 RECQL4 RETREG1 RNF113A RPA1 RSPO1 RTEL1 RUNX2 SASH1 SCN9A SMARCAD1 SMARCE1 SREBF1 STAT3 STING1 TARS1 TERC TERT TGM1 TINF2 TNFRSF1B TP53 TP63 TRPV3 TTC7A TYMS UBE2A USB1 WNK1 WNT10A WRAP53 ZBTB20 ZMPSTE24 HP_NAIL_PITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_PITS FOXN1 HLA-C IKBKG LPAR6 MSX1 TERC TERT TINF2 TP63 UFC1 HP_NARROW_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FACE ACTA1 ANTXR2 AP4E1 APC2 ATP7A ATR ATRIP BAZ1B BCL7B BCOR BLM BUD23 CENPE CENPJ CENPT CEP152 CFL2 CHD7 CHRNB1 CLIP2 COL18A1 DNA2 DNAJC30 DSTYK EIF4H ELN ERCC4 EYA1 FBN1 FBXL4 FKBP6 FMR1 GTF2I GTF2IRD1 GTF2IRD2 HECTD4 HYOU1 KBTBD13 KLHL41 KMT2D LIG4 LIMK1 LMNA LMOD3 MAP2K2 MED12 METTL27 MICU1 MLXIPL MTM1 MYH3 MYPN NALCN NCF1 NEB NFIX NGLY1 NHS NOG NOTCH3 NSD1 NSDHL NSUN2 NUP85 PAX3 PBX1 PCNT PLK4 PPP1R15B PQBP1 RBBP8 RECQL4 RFC2 RFX7 RLIM RYR1 RYR3 SATB2 SEMA3E SETD2 SIN3A SIX1 SLC16A2 SLC37A4 SLC6A8 SLC9A6 SMS STEEP1 STRADA STX1A TBL2 TBX1 TMEM270 TNNI2 TNNT3 TPM2 TPM3 TRAIP TRIP11 TRMT10A TSPAN7 TUBB4A UBE3B UPF3B VPS37D WRN ZDHHC9 HP_NARROW_FOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOOT ADK FBN1 PQBP1 SCARF2 TCF4 HP_NARROW_FORAMEN_OBTURATORIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FORAMEN_OBTURATORIUM CAV1 CCN2 CCR6 HLA-DRB1 IRF5 KIAA0319L HP_NARROW_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOREHEAD ABL1 ADAM22 AFF4 AMER1 AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 ASPM ASXL1 ATN1 ATP6AP2 ATRX BICRA BMP2 BRAF CACNA2D1 CAMK2B CAMK2G CARS1 CCDC47 CCDC88A CDC42 CDH11 CDKL5 CLP1 COG7 COL18A1 CTCF CTU2 DCHS1 DDX11 DDX6 DHCR7 DLK1 DNM1 DOCK7 DPH5 DTYMK DYRK1A ELN EPG5 FAT4 FRA10AC1 FRMD4A FUT8 GET4 GNB2 GNPTAB GOLGA2 GON7 GPAA1 GPT2 GTPBP2 H3-3A H4C9 HERC2 HNRNPK HS2ST1 HS6ST2 IER3IP1 IFT140 KAT6A KATNB1 KCNK4 KCNK9 KDM4B KIF26A LAGE3 LETM1 LGI4 LIG4 LMNB1 LZTR1 MAD1L1 MADD MAGEL2 MAP2K2 MAPK1 MAPKAPK5 MED13L MEG3 MEIS2 MKRN3 MLXIPL MN1 MTSS2 MYO18B MYOD1 NAA10 NAA20 NBAS NDE1 NEXMIF NF1 NPAP1 NRCAM NUP107 NUP133 NUP188 OSGEP PIGB PIGN PIGT PIGU PIGY PPP1CB PPP1R15B PPP1R21 PPP2R3C PPP2R5D PRKAR1B PSPH PUF60 PUM1 PURA PWAR1 PWRN1 PYCR2 QARS1 RAB3GAP1 RARS2 RBBP8 RELN RNF13 RTL1 RYR1 SC5D SERPINH1 SETBP1 SHOC2 SIM1 SLC12A2 SLC12A6 SLC16A2 SLC25A46 SMARCD1 SMC1A SMG9 SMPD4 SNORD115-1 SNORD116-1 SNRPN SON SOX6 SPATA5L1 SPEN SPOP SPRED2 SPTBN1 SUOX TBC1D24 TBCD TBCK TCF4 TMCO1 TNPO2 TRAPPC4 TRAPPC9 TRMT10A TSPEAR TUBGCP2 UGP2 USP9X VPS53 WDR35 WWOX ZIC2 ZNF148 ZNHIT3 HP_NARROW_ILIAC_WING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_ILIAC_WING COL2A1 CTSK EIF2AK3 NANS PEX5 RPS6KA3 SEC23A SEC24D SOX9 ZBTB20 HP_NARROW_INTERNAL_AUDITORY_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_INTERNAL_AUDITORY_CANAL AKT1 CHN1 ERF FGFR2 FGFR3 MAFB OTX2 POLR1B POLR1C POLR1D PRRX1 PTEN SALL4 TCOF1 TWIST1 HP_NARROW_JAW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_JAW AGRN CCNK CHAT COL13A1 MYO9A MYOD1 NSD1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 VAMP1 HP_NARROW_MOUTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_MOUTH ADAMTS3 AKT1 AKT3 ALDH18A1 AMMECR1 APC ARVCF ASXL1 ATAD3A ATP6V0A2 ATP6V1E1 AUTS2 B3GAT3 B4GALT7 BBS7 BCL11B BCR BIN1 BMP2 BMPR1A BPNT2 BPTF BRPF1 CA2 CACNA1C CAMTA1 CANT1 CASZ1 CAV1 CCBE1 CCND2 CDC45 CDC6 CDK13 CDT1 CENPT CEP57 CHD7 CHRNG CHST14 CHST3 CHSY1 CLCF1 CLCN3 COG1 COG7 COL11A1 COL11A2 COL2A1 COL3A1 COL7A1 COMT CREBBP CRKL CRLF1 CTCF DCHS1 DCPS DHCR24 DLK1 DONSON DSE ECEL1 EDN1 EIF4A3 EP300 EXTL3 FAM20C FAT4 FBN1 FBXO11 FGFR2 FLNA FREM2 GABRA3 GABRD GBA1 GJA1 GLB1 GMNN GNAI3 GNB2 GP1BB GRB10 GSC H3-3A HEATR3 HECTD4 HIRA HIVEP2 HSPG2 HUWE1 IARS2 IGF1R ITGA3 JMJD1C KARS1 KAT6A KCNAB2 KIF7 LEMD2 LGI3 LMNA LMX1B LTBP3 LUZP1 MADD MAF MAPK1 MAPK8IP3 MAPRE2 MCM5 MDM2 MECP2 MED12 MED12L MEG3 MMP1 MMP23B MTX2 MUSK MYBPC1 MYH3 MYL11 NALCN NEB NEDD4L NFIA NFIX NONO NOTCH2 ORC1 ORC4 ORC6 OSGEP OTX2 PAFAH1B1 PAX3 PCGF2 PDPN PHACTR1 PIEZO2 PIGA PIGF PIGN PIK3CA PIK3R2 PLCB4 POGZ POLD1 POLR1B POLR1C POLR1D POLR3A POR POU4F1 PPP1R15B PQBP1 PRDM16 PRKCZ PRRX1 PTCH1 PTEN RAB3GAP1 RECQL4 RERE RIPK4 RLIM RNF2 RPL10 RREB1 RSPO2 RTL1 RTTN RYR1 SATB2 SCARF2 SCN1A SCNM1 SCYL2 SEC24C SEMA3E SEPTIN9 SETBP1 SH2B1 SIN3A SKI SKIC3 SLC25A24 SMAD4 SMS SON SOX6 SOX9 SP7 SPEG SPEN STXBP1 SUPT16H SYNGAP1 TAF6 TBC1D20 TBX1 TBX4 TCOF1 TGDS TLK2 TMLHE TNNI2 TNNT3 TP63 TPM2 TRIP4 TRMT10A TRMT5 TTN TUBB TWIST1 TXNL4A UBE3B UBE4B UFC1 UFD1 WNT3 YWHAE ZBTB20 ZMIZ1 ZMPSTE24 HP_NARROW_NARIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NARIS ATP6V1A ATP6V1E1 ESCO2 KCNJ6 MEGF8 PAX3 PRMT7 TGDS HP_NARROW_NASAL_BRIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_BRIDGE BMPR1B CDON COG4 COL3A1 CREBBP DISP1 DLL1 EP300 FGF8 FGFR1 FOXH1 GAS1 GDF5 GJA1 GLI2 HERC2 HNRNPR KCNJ6 KCNK9 MAGEL2 MDM2 MED12 MKRN3 MMP2 NDP NFIB NODAL NONO NPAP1 PAX3 PORCN PPP1R21 PTCH1 PWAR1 PWRN1 RECQL4 RNF13 RNU4ATAC SHH SIM1 SIX3 SMARCA2 SMARCA4 SNORD115-1 SNORD116-1 SNRPN SRCAP SUFU TDGF1 TGIF1 ZIC2 HP_NARROW_NASAL_RIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_RIDGE ADAT3 ALDH18A1 CAV1 CEP55 CLCN3 COL3A1 FBN1 FOCAD HNRNPH1 HRAS LMNA MTX2 NRAS POLR3A PYCR1 RECQL SMARCA2 WDR73 ZMPSTE24 HP_NARROW_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NOSE ABL1 ACP5 CARS1 CCNQ COL5A1 DDR2 ERCC6 ERCC8 EYA1 FBN1 FGFR2 GJA1 HYOU1 LMNA MED12 PDGFRB POLE POLR3A RNU4ATAC SATB2 SCARF2 SMC1A TGDS TP63 TRRAP TWIST1 HP_NARROW_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALATE AARS1 ABCC6 ACTA1 ACTA2 ADAMTS10 ADNP AEBP1 AFF4 AMER1 ANTXR1 APC APC2 ARID2 ARL6 ASXL1 ASXL3 ATN1 ATP6V1B2 ATP7A BBS1 BCOR BCR BMPR1A BRAF BRCA1 CARS1 CCBE1 CCDC22 CCDC28B CDC45 CDC6 CDK10 CDT1 CNTN1 CNTNAP1 COL11A1 COL12A1 COL3A1 COPB1 CPT2 CREBBP CRKL CTSK DDX59 DIS3L2 DPM1 DPYSL5 DVL1 DVL3 ELMO2 ELN EP300 ERCC2 ERCC3 ERF ERMARD FBN1 FGFR1 FGFR2 FGFR3 FIG4 FLNA FOXE3 FOXP2 FZD2 GIPC1 GMNN GNE GPC3 GPC4 GRB10 GRIA3 GTF2E2 GTF2H5 H4C5 HECTD4 HECW2 HERC2 HEY2 HNRNPK HRAS IFT122 IL11RA INTU IPO8 KANSL1 KCNK9 KIF26A KLHL41 LOX LRP12 LRP4 MADD MAP2K1 MAP3K7 MAPK1 MARS1 MAT2A MCM3AP MED12 MED12L MED25 MEGF8 MESD MFAP5 MPLKIP MUSK MYH11 MYLK MYMX NAA10 NDUFAF6 NEB NEK9 NIPBL NONO NOTCH2NLC NOTCH3 NSD1 OCRL ORC1 ORC4 ORC6 PCDHGC4 PCLO PEX1 PEX5 PIEZO2 PIGT PLOD1 POR PRKG1 PRUNE1 PTDSS1 PTEN PTPN11 RAB18 RARS2 RECQL4 RET RILPL1 RNF113A RPS6KA3 RUNX2 SCARF2 SCNM1 SETBP1 SH3BP2 SIN3A SKI SLC25A12 SLC25A24 SLC25A46 SLC35C1 SLC6A17 SMAD2 SMAD3 SMAD4 SMARCA2 SMG9 SMS SOX5 SPEN SPRED1 SPRED2 SPTBN1 TAF1 TAOK1 TARS1 TBC1D24 TBCK TBX1 TBX2 TCTN3 TECR TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TPM3 TRPS1 TWIST1 UBE3B UFC1 VAC14 VPS13B VPS35L WASHC5 WNT5A WNT7A HP_NARROW_PALM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALM AUTS2 DPYSL5 GNB1 HERC2 KANSL1 KMT2B MAGEL2 MKRN3 NDN NPAP1 PWAR1 PWRN1 SMS SNORD115-1 SNORD116-1 SNRPN UBE3B VPS13B HP_NARROW_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALPEBRAL_FISSURE ADNP ARID2 B3GLCT B9D2 BICRA CACNA1G CDC42BPB CEP55 DDR2 DDX6 DGCR2 DGCR6 DGCR8 DLK1 DNMT3A DOCK6 EBP EDEM3 EFEMP2 ESS2 FAT4 FRA10AC1 GABRA3 GATAD2B GPC6 HDAC4 HSPG2 INTS1 KCTD1 KDM4B KIF26A KMT2A KPTN LARP7 MAPK8IP3 MAPKAPK5 MED13 MEG3 MYCN PCGF2 PCNT PDE4D PGM3 PHF6 POLR3A PYCR1 RBMX RECQL4 RFX7 RPL10 RTL1 SLC6A17 SMAD4 SMARCA2 SPEN SPOP SRCAP TBL1XR1 TBX1 TBX15 TENM3 TRIP12 TRMT1 WDR35 ZMYM2 HP_NARROW_PELVIS_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PELVIS_BONE BGN BMPER FGFR2 IDUA PCNT POR PTH1R RSPRY1 HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE CHST3 DDRGK1 EXOC6B FGFR3 GNPTAB HNRNPR KIF22 LTBP3 NPR2 PDE4D PRKAR1A RMRP SLC35D1 TONSL HP_NASAL_CONGESTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_CONGESTION ANKH ARL2BP ARSL CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CPT2 DBH DDC DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FGFR1 FOXJ1 GAS2L2 GAS8 GJA1 GNAS HYDIN LRRC56 MCIDAS NEK10 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PIK3CG RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TTC12 ZMYND10 HP_NASAL_DYSARTHIC_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_DYSARTHIC_SPEECH GIPC1 GRHL3 LRP12 NOTCH2NLC RILPL1 SELENOI UBB HP_NASAL_REGURGITATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_REGURGITATION AGRN CHAT COL13A1 GRHL3 MYO9A SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 TOP3A TUBB6 UBB VAMP1 HP_NASOGASTRIC_TUBE_FEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING AASS ABCD1 ACSF3 ACTA1 ALG2 ANAPC1 ASPA ASXL3 BSND CARS2 CLCNKA CLCNKB COL4A5 COL4A6 DPM2 EPM2A FOXP3 GNB2 GRIN1 HECW2 KCNK9 KNSTRN MAGEL2 MFF MOGS MPDU1 MYL1 NACC1 NHLRC1 NONO PACS1 PIK3CD PLP1 PSAT1 PTCD3 RECQL4 SIM1 SLC35A2 SRCAP VPS50 WAC ZNF699 HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY ACTA1 BRAF CLTCL1 COL2A1 COX8A CREBBP CTCF DYRK1A EDEM3 EP300 FOXP2 GALC GFM2 GPT2 GRM7 HACD1 HNRNPK IDH1 ITGA7 KANSL1 MAP3K20 MT-TE MYL2 NALCN PDE10A PIGT PSAP PUF60 SATB2 SELENON SNRPN TFG TP63 TPM2 TPM3 TRMU UNC80 HP_NASOLACRIMAL_DUCT_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOLACRIMAL_DUCT_OBSTRUCTION CD151 CREBBP EP300 EYA1 FGFR2 FREM1 HMX1 IGSF3 KAT6A KNSTRN MED12 MEGF8 NHP2 NOP10 PAX1 PIK3CD PPP1CB PRR12 PTDSS1 SIX1 SMC3 SMC5 SOX6 SPRED2 TAF1 TCOF1 TET3 TFAP2A TGDS TP63 USB1 YY1 HP_NATAL_TOOTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NATAL_TOOTH AMER1 BCL11B C2CD3 CEP120 CILK1 CREBBP DPH1 DSP EHMT1 EP300 EVC EVC2 FAM20C FGFR2 FLNA GLI3 GTF2H5 INTU JUP KDF1 KDM6A KMT2C KMT2D KRT16 KRT17 KRT6A KRT6B LMNA MID1 MKS1 NEK1 POLR3A POLR3B PTH1R SPECC1L VARS1 ZMPSTE24 HP_NAUSEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA ALAD ALDOB APC ASXL1 ATP1A2 CACNA1D CD46 CDKN1A CDKN1B CDKN2B CDKN2C CFH CFI CLCN2 COL1A1 COL5A1 COL5A2 CPOX CTRC CYP11B1 CYP11B2 DLST DNAJC6 DNMT3A EDNRA EPAS1 ESR1 ETFA ETFB ETFDH EXT2 FH FSHR GLA HELLPAR HMBS HTRA2 IL18BP KCNA1 KCNJ5 KCNQ2 KIF1B KIT LIG3 LPL LRRK2 MAX MDH2 MEN1 MGME1 NAGS NF1 NPPA PARK7 PHKA2 PHKB PHKG2 PINK1 PKHD1 PODXL POLG PPOX PRKN RET RRM2B RYR1 SAA1 SCN2A SCN5A SDHA SDHAF2 SDHB SDHC SDHD SERPING1 SLC1A3 SLC22A12 SLC25A11 SLC2A9 SLC7A7 SNCA SPINK1 SRSF2 SYNJ1 TET2 TMEM127 TNF TP53 TRANK1 TYMP UCHL1 VHL VPS13C HP_NAUSEA_AND_VOMITING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA_AND_VOMITING AASS ABCC6 ABCC8 ABCD1 ACAD8 ACADM ACADVL ACAT1 ACSF3 ACSL5 ACTG2 ACY1 ADNP AGR2 AIMP1 AIP AKT1 ALAD ALDH18A1 ALDOB ALG11 ALG3 ALG8 ALG9 ALPL ALX4 AMN ANAPC1 ANG ANO1 ANXA11 APC AQP2 ARG1 ASL ASPA ASS1 ASXL1 ASXL3 ATP1A2 ATP1A3 ATP6V0A4 ATP7A ATP7B ATP9A ATRX ATXN2 AVP AVPR2 BAP1 BAZ1B BCKDHA BCKDHB BCL10 BCL7B BIRC3 BMPR1A BOLA3 BRAF BRCA1 BRCA2 BSND BTD BUD23 C4A CA5A CACNA1A CACNA1D CARD8 CAV1 CCM2 CCN2 CCNF CCR1 CCR6 CD46 CD55 CDC42BPB CDC73 CDH23 CDK13 CDK8 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDON CFAP410 CFH CFI CHCHD10 CHMP2B CLCN2 CLCNKA CLCNKB CLIP2 CLMP COA8 COL1A1 COL25A1 COL4A5 COL4A6 COL5A1 COL5A2 COQ2 CPOX CPS1 CPT2 CTLA4 CTNNB1 CTNS CTRC CUBN CYC1 CYP11A1 CYP11B1 CYP11B2 CYP24A1 D2HGDH DAO DAXX DBH DBT DCTN1 DGAT1 DGUOK DHCR7 DISP1 DLD DLEC1 DLL1 DLST DNAJC30 DNAJC6 DNASE1L3 DNMT3A DOLK DYRK1A ECE1 EDN3 EDNRA EDNRB EGFR EIF4H ELN ELP1 ENPP1 EPAS1 EPCAM EPHA4 ERAP1 ERBB2 ERBB3 ERBB4 ESR1 ETFA ETFB ETFDH EWSR1 EXT2 F12 FAH FAN1 FARSB FAS FBLN5 FBP1 FGF13 FGF8 FGFR1 FH FIG4 FKBP6 FLI1 FLNA FOCAD FOXH1 FOXP1 FOXP3 FOXRED1 FSHR FUS GALC GALE GALT GAMT GAN GAS1 GATA2 GDNF GFAP GFM2 GHSR GK GLA GLE1 GLI2 GLT8D1 GPD1 GRB10 GTF2I GTF2IRD1 GTF2IRD2 HADH HELLPAR HIBCH HIKESHI HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMBS HMGCL HMGCS2 HNF4A HNRNPA1 HNRNPK HPRT1 HS3ST6 HSD3B2 HTRA2 IFNGR1 IKZF1 IL10 IL12A IL12A-AS1 IL18BP IL23R IRAK1 IRF5 ITGA6 ITGB4 IVD KARS1 KCNA1 KCNJ1 KCNJ11 KCNJ5 KCNQ2 KIAA0319L KIF1B KIF21A KIT KLRC4 KMT2E KRAS KRIT1 KYNU LAMA3 LAMB3 LAMC2 LBX1 LIG3 LIMK1 LIPA LMOD1 LPL LRPPRC LRRK2 MALT1 MARS1 MATR3 MAX MC2R MCCC1 MCCC2 MDH2 MED12 MEFV MEN1 MET METTL27 MGME1 MLH1 MLH3 MLXIPL MLYCD MMAA MMAB MMUT MPI MPV17 MRAP MRPS7 MSH2 MSH6 MSX2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFD1 MTRR MTTP MVK MYC MYH11 MYLK NAA10 NAGS NARS2 NAXD NBAS NCF1 NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEFH NEK1 NEUROG3 NEXMIF NF1 NF2 NFIX NLRC4 NLRP3 NNT NODAL NOTCH2NLC NPPA NR3C2 NRTN NSD1 NUBPL NUP214 OPLAH OPTN OTC OXCT1 PAH PALB2 PALLD PARK7 PCCA PCCB PDCD10 PDGFB PDGFRA PERCC1 PFN1 PGM1 PHGDH PHKA2 PHKB PHKG2 PHOX2A PIGY PIK3CA PINK1 PKHD1 PLCH1 PLEC PMM2 PMS1 PMS2 PNPT1 PODXL POLG PON1 PON2 PON3 PPARGC1A PPM1D PPOX PRKN PRPH PRTN3 PSAP PTCH1 PTEN PTPN22 PYCR2 RAB27A RABL3 RANBP2 RARS1 RECQL4 RELA RET RFC2 RHBDF2 RNF6 RPS20 RRM2B RYR1 SAA1 SAR1B SAT1 SCN2A SCN5A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SEMA3C SEMA3D SEMA4A SERPING1 SHANK3 SHH SI SIX3 SLC12A1 SLC12A3 SLC19A3 SLC1A3 SLC22A12 SLC22A5 SLC25A11 SLC25A13 SLC25A15 SLC25A4 SLC2A9 SLC37A4 SLC46A1 SLC5A1 SLC5A6 SLC6A8 SLC7A7 SMAD4 SMARCB1 SMARCE1 SMC1A SMO SMPD1 SNCA SOD1 SPINK1 SPP1 SPTBN1 SQSTM1 SREBF1 SRSF2 SSR4 ST3GAL5 STAG2 STAR STAT4 STIL STK11 STX1A STX3 SUCLG1 SUFU SUGCT SUOX SYK SYNJ1 SYT1 TAF15 TARDBP TBK1 TBL2 TCN2 TDGF1 TERT TET2 TGFBR2 TGIF1 TICAM1 TIMM22 TIMMDC1 TLR3 TLR4 TMEM126B TMEM127 TMEM270 TNF TNFRSF1A TOM1 TP53 TRAF3 TRAF7 TRANK1 TREH TREM2 TRMT5 TRMU TTR TUBA1A TUBB2B TUBB3 TWNK TXNRD2 TYMP UBAC2 UBQLN2 UCHL1 UFC1 UNC13A UNC45A UNC93B1 UQCC2 UQCRC2 UQCRH VAPB VCP VHL VPS13C VPS37D WT1 WWOX YARS1 ZEB2 ZFTA ZIC2 HP_NECK_FLEXOR_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_FLEXOR_WEAKNESS ACTA1 AGRN AK9 ALS2 CAV3 CFL2 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CNBP COL13A1 DES DOK7 DYSF FLNC FUS GYG1 KBTBD13 KLHL41 LAMA2 LMOD3 LRP4 MEGF10 MUSK MYH7 NEB PLIN4 POLG RAPSN RNASEH1 RRM2B SCN4A SELENON SGCG SIGMAR1 SPG11 SPTLC1 TNNT1 TOP3A TPM2 TRIM32 TTN HP_NECK_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_MUSCLE_WEAKNESS ACTA1 ADCY5 AGRN AK9 ALS2 CAV3 CFL2 CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CNBP COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DES DOK7 DYSF FA2H FLNC FUS GALC GFPT1 GMPPB GYG1 JAG2 KBTBD13 KLHL41 LAMA2 LAMB2 LMNA LMOD3 LPIN1 LRIF1 LRP4 MEGF10 MORC2 MT-CO1 MT-CO3 MTM1 MUSK MYH2 MYH7 MYL1 MYO9A MYPN NEB NOTCH2NLC OBSCN ORAI1 PABPN1 PLIN4 PNPLA2 POLG PRPS1 PSAP PYROXD1 RAPSN RNASEH1 RRM2B SCN4A SELENON SGCG SIGMAR1 SLC18A3 SLC22A5 SLC25A1 SLC52A2 SLC52A3 SLC5A7 SNAP25 SPG11 SPTLC1 SYNE1 SYT2 TGM6 TMEM43 TNNT1 TOP3A TPM2 TPM3 TRIM32 TRIP4 TTN VAMP1 HP_NECK_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_PAIN DKK1 HMBS HTRA1 RASA1 TONSL HP_NECROTIZING_ENTEROCOLITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECROTIZING_ENTEROCOLITIS ACADVL DEF6 FCN3 FH MYH11 PIGY HP_NEGATIVISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEGATIVISM APOL2 APOL4 CHI3L1 COMT DAOA DRD3 HTR2A MTHFR RTN4R SYN2 HP_NEMALINE_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEMALINE_BODIES ACTA1 CFL2 COX11 KBTBD13 KLHL40 KLHL41 KY LMOD3 MYO18B MYPN NDUFB3 NEB NEFL PYROXD1 RYR1 RYR3 TNNT1 TPM2 TPM3 HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA ADAR CD109 GP1BA GP1BB IFIH1 ITGA2 ITGA2B ITGB3 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1 HP_NEONATAL_ASPHYXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ASPHYXIA ALDH7A1 BIN1 COG7 DNM2 GALK1 HSD3B2 MED12 MTMR14 MYF6 PLPBP RNF168 RYR1 SHPK SLC27A4 HP_NEONATAL_BREATHING_DYSREGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_BREATHING_DYSREGULATION AHI1 CEP290 INPP5E RPGRIP1L TMEM216 HP_NEONATAL_DEATH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_DEATH AARS2 ABCA12 ABCA3 ACTA1 ADCY6 ALG8 AP1S1 ATAD3A ATP1A2 ATP5F1A BCS1L CDK5 CEP55 CNOT1 CNTNAP1 CRLS1 CTSD DONSON DSP EDNRB ETFA ETFB ETFDH FAM20C FANCB FGA FGB FGFR3 FGG FLNB FOXF1 GAD1 GATC GBA1 GET3 GLE1 GLI3 GLUL GPHN HADHB HSPG2 HTRA2 IL6ST INTU ITGA6 JAM3 LBR LMOD1 LMOD2 LMOD3 MBTPS2 MDFIC MOCS2 MRPS16 NDUFAF4 NDUFB10 NDUFB11 NDUFS6 NEB NFU1 NPHP3 NUP88 PAICS PET100 PEX10 PEX14 PHGDH PIP5K1C PKHD1 PLEC PPFIBP1 QRSL1 RAD51C RARB RBM10 RMND1 SCN4A SDHD SFTPB SLC25A24 SLC25A4 STRA6 SUCLG1 TARS2 TBXT THSD1 TMEM70 TTC26 WT1 ZIC3 ZMPSTE24 HP_NEONATAL_HYPERBILIRUBINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPERBILIRUBINEMIA CPOX DUOX2 DUOXA2 EPB41 FBP1 GPX1 GYPC IGF1 IYD KCNN4 PAFAH1B1 PIEZO1 PNPLA6 SLC35A2 SLC4A1 SLC5A5 SPTA1 SPTB TG TPO TSHB TSHR UBE2A UGT1A1 HP_NEONATAL_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOGLYCEMIA ABCC8 AKT2 APC2 APPL1 BLK CDKN1C CEL CIC CLPB COX10 CYP11A1 DBH DNAJC19 EBP FBP1 GCK GFM2 GYS2 H19 HADH HERC1 HNF1A HNF4A HSD3B2 HTRA2 IGF2 INS KCNJ11 KCNQ1 KCNQ1OT1 KDM6A KLF11 MADD MSL3 MTOR NEUROD1 NSD1 OTX2 PAX4 PDX1 PET100 PRKAG2 PROP1 SETD2 SLC25A20 TBX19 WARS2 YARS1 HP_NEONATAL_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOTONIA ACOX1 ACTA1 ADNP ALG11 AP4B1 AP4E1 AP4M1 ARID1B ARX ATP2B3 ATXN7 B3GALT6 BCS1L BIN1 BPTF BRAF CAMTA1 CASK CCDC174 CCDC88A CDKL5 CFL2 CHRNA1 CHRNB1 CHRND CHRNE CLPB CNTN1 COA6 COG4 COL12A1 COL6A1 COL6A2 COL6A3 COPB1 COQ4 CPT2 CRPPA CWC27 DLAT DLK1 DMPK DNAJC19 DST EARS2 EEF1A2 EGR2 EIF5A ERCC6L2 FGFR1 FIG4 FKBP14 FKRP FKTN FLNA FOXG1 FXR1 GABBR2 GABRA2 GATA6 GATAD2B GDAP1 GLYCTK GNPTAB GOT2 GRIA4 H1-4 HADH HERC2 HNF1A HNF4A HSD17B4 IER3IP1 IGHMBP2 KANSL1 KAT6A KCNK9 KLHL41 KNSTRN LAMA2 LARGE1 LMOD3 LYRM4 MADD MAG MAGEL2 MECP2 MED12 MEG3 MEGF10 MKRN3 MRPS16 MT-TE MT-TT MTHFR MTM1 MUSK MYT1L NADK2 NALCN NDN NEB NEXMIF NFIX NONO NPAP1 NSD1 NTNG1 OCRL ODC1 PAFAH1B1 PCLO PDE4D PDHX PDP1 PDSS2 PEX1 PEX10 PEX12 PEX16 PEX2 PEX26 PEX3 PEX6 PGAP1 PHIP PIEZO2 PIK3CD PLCB3 PLOD1 POMK POMT1 POMT2 POU4F1 PPP2R5D PRDM5 PRKAR1B PRPS1 PSMD12 PTRH2 PURA PWAR1 PWRN1 PYROXD1 RAPSN RBL2 RPL10 RTL1 RYR1 SCN4A SDHA SH2B1 SHANK3 SIM1 SLC12A6 SLC16A2 SLC25A22 SLC25A46 SLC6A8 SLF2 SMC1A SNORD115-1 SNORD116-1 SNRPN SON SOX10 SPATA5 SPOP SPTBN4 STAG1 SUCLG1 SUMF1 SYNE1 SYT1 TAF6 TBC1D24 TBCK TBR1 TGFB3 TIMM22 TMCO1 TMEM260 TNNT1 TPM2 TPM3 TSFM TUBA8 TUFM UNC80 UPB1 UQCC2 USP7 VAC14 VMA21 VPS13B VPS53 WAC WDR19 ZNF148 ZNF469 HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS ABCC8 APPL1 BLK CEL CNOT1 EIF2AK3 GATA6 GCK HNF1A HNF4A HYMAI INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PLAGL1 PTF1A STAT3 ZFP57 HP_NEONATAL_OMPHALITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_OMPHALITIS C1QC CLPB FCGR3B G6PC3 ITGB2 RAC2 RBCK1 SMARCD2 HP_NEONATAL_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ONSET ABAT ABCC8 ABCD4 ABHD16A ACADS ACADVL ACSL5 ACTA1 ACY1 ADA ADA2 ADAR ADK ADNP ADSL AGK AGPAT2 AGR2 AKR1D1 ALDH7A1 ALG11 ALG12 AMACR AMT ANK1 ANO1 AP1S2 AP3B2 AP4E1 AP4S1 AQP2 ARG1 ARHGDIA ARL13B ARL2BP ARNT2 ARX ASL ASNS ASS1 ATP11A ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP5F1A ATP5F1D ATP5PO ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A4 AUTS2 AVPR2 BRAF BRAT1 BTK C12orf57 C1QBP C1QC C2orf69 CA5A CACNA1A CACNA1C CACNA1G CACNA1I CACNA1S CACNA2D2 CALM2 CARMIL2 CAV1 CBS CCDC78 CD320 CD79A CDC42BPB CDSN CELF2 CEP120 CFAP300 CFAP410 CHAMP1 CHAT CHRND CHRNE CHST14 CIC CILK1 CLCN3 CLCN7 CLDN1 CLPB CNOT1 CNTN1 COL12A1 COL7A1 COQ9 COX10 COX11 COX15 COX16 COX4I2 CPS1 CRLS1 CRYAB CSF3R CTNNB1 CYP11B1 CYP11B2 CYP7B1 DCDC2 DCN DENND5A DGAT1 DGUOK DIAPH1 DNAAF5 DNAAF6 DNAH5 DNAI2 DNAJC21 DNAL1 DNASE2 DNM1L DOCK2 DOHH DRC1 DUT EBF3 EEF1A2 EIF3F ENPP1 EPCAM ERCC5 EXTL3 F13A1 FARS2 FBP1 FGF12 FGF13 FKRP FOCAD FOXRED1 FRMD5 G6PC3 GABRG2 GAD1 GCDH GET3 GFPT1 GGCX GJB2 GLIS3 GLRB GLUD1 GLYCTK GMPPA GMPPB GNAO1 GPHN GRIK2 GRIN1 GRIN2D GTPBP3 GUCY1A1 GUF1 H1-4 HACD1 HADH HADHA HADHB HCFC1 HCK HDAC4 HID1 HLCS HNF4A HPD HPDL HPS5 HR HSD17B4 HSD3B7 HSPD1 HTRA2 HYDIN HYOU1 IFIH1 IL1RN IL2RG IL36RN IRS4 ITGA2B ITGA3 ITGB2 ITGB3 KCNB1 KCNC2 KCNJ1 KCNJ11 KCNJ13 KCNJ5 KCNMA1 KCNQ2 KCNT1 KCNT2 KDM5B KIF12 KIF14 KIF5A KRT10 KRT14 KRT5 KYNU LAMA3 LAMB2 LBX1 LCT LIAS LIPT2 LMBRD1 LRPPRC LSS LTBP1 LTBP3 LYRM4 LYST MAG MAGEL2 MARS1 MCIDAS MDH2 MINPP1 MMAB MMUT MOCS2 MPDU1 MRPL3 MRPS34 MTRR MUSK MYBPC3 MYL2 MYO1H MYO5B NAA20 NDUFA10 NDUFA11 NDUFA2 NDUFA9 NDUFAF3 NDUFS1 NDUFS2 NDUFS6 NDUFS8 NDUFV2 NEDD4L NEUROG3 NFASC NFIX NFU1 NHLRC2 NKX2-1 NLRC4 NLRP12 NLRP3 NOS1AP NPC2 NR0B1 NR1H4 NR3C2 NSD1 NSRP1 NUDT2 NUP133 NUP214 OCLN ODAD1 ODAD4 OSTM1 OTC OTX2 OXCT1 PACS2 PAX8 PCDHGC4 PDP1 PDSS2 PEX1 PEX2 PEX6 PHOX2B PIGP PIGU PKHD1 PLPBP PLVAP PLXNA1 PMM2 PNLIP POLE POMC POMP PPCS PPP1R21 PPP2CA PROC PROS1 PSAP PSAT1 PSMB10 PTF1A PTS PURA PXDN QARS1 RAC1 RBCK1 RBL2 RHAG RHOBTB2 RIPK1 RIPOR2 RNF125 RP1L1 RPL3L RPS19 RRM2B RYR1 SAMD9 SAMHD1 SCN3A SCN4A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO2 SECISBP2 SELENOI SELENON SERPINB7 SFTPB SH3PXD2B SHMT2 SIN3A SKIC2 SLC10A1 SLC10A2 SLC12A6 SLC13A5 SLC1A2 SLC25A1 SLC25A13 SLC25A22 SLC2A1 SLC2A10 SLC2A2 SLC35A2 SLC37A4 SLC38A3 SLC39A7 SLC51B SLC5A1 SLC6A3 SLC6A5 SMARCA2 SMARCAD1 SMN1 SNX14 SOX10 SOX11 SPATA7 SPTBN4 ST3GAL5 STAG1 STAT3 STING1 STS STT3A STX3 STXBP1 SUCLG1 SUOX SUPT16H SYNJ1 TDO2 TELO2 TFAM TJP2 TMEM163 TMEM240 TMEM38B TNFRSF11A TNFSF11 TNNT1 TOR1A TP53 TP73 TPI1 TPM1 TRAF7 TRAPPC4 TRIP4 TRMT10C TRMT5 TRMU TRNT1 TRPV4 TSFM TSHR TSPYL1 TTN TUBA1A UBA1 UBA5 UBE3C UFSP2 UGT1A1 UNC13D UPF3B UQCC2 UQCC3 USP18 USP53 VAMP1 VARS2 VDR VIPAS39 VPS45 VPS50 WARS2 WASHC4 WDR45B XPA ZBTB20 ZNF142 ZNF408 HP_NEONATAL_RESPIRATORY_DISTRESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_RESPIRATORY_DISTRESS ABCA3 ABCB11 ABCB4 ALDH1A2 ALDH7A1 ALG14 ARSL ASCC1 ASXL1 ATP8B1 BIN1 CANT1 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CHRNG COG7 COLQ COX14 COX6A2 CPT2 CSGALNACT1 CUL7 DDX3X DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DNM1L DNM2 DPM2 DRC1 DST ENPP1 FBN1 FGFR3 FOXF1 FOXJ1 GALK1 GAS2L2 GAS8 GLUL GLYCTK GMPPA GNB2 GPC3 GPC4 GRM7 GSC HACD1 HSD3B2 HYDIN HYMAI ITGA3 KAT6A KIAA0753 KIF22 KNSTRN LAMB2 LONP1 LRRC56 MADD MCIDAS MDFIC MED12 MLYCD MT-TT MTM1 MTMR14 MYF6 MYH3 NALCN NDUFB10 NEK10 NFASC NKX2-1 NME5 NME8 NPC2 NPHS1 NR1H4 NSF NUP214 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PAX2 PBX1 PDHA1 PEX1 PIK3CD PLAGL1 PLCB3 PLEC PLPBP PTCD3 RALGAPA1 RAPSN RNF168 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RUNX2 RYR1 SBDS SCN4A SFTPB SHPK SLC27A4 SLC30A9 SMPD4 SNAP25 SNRPB SOX9 SPAG1 SPEF2 SPOP SRP54 STK36 SUCLG1 TOR1A TRAF7 TRIP4 TTC12 UBE3B WT1 XYLT1 ZC4H2 ZMYND10 HP_NEONATAL_SHORT_LIMB_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE COL1A1 COL1A2 COL2A1 DYNC2LI1 EVC EVC2 FGFR3 GLI1 PRKACA PRKACB PTH1R RMRP SLC26A2 SOX9 HP_NEOPLASIA_OF_THE_NASOPHARYNX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASIA_OF_THE_NASOPHARYNX MST1R PDE11A PRKAR1A STK11 TP53 HP_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM AAGAB AARS1 ABCA5 ABCC6 ABCD1 ABL1 ACAN ACD ACP5 ACTB ACTG2 ACVR1 ACVR1B ACVRL1 ADA ADA2 ADAMTS3 ADAR ADH5 AGGF1 AIP AKT1 ALAD ALG5 ALG9 ALK ALX1 ALX3 ALX4 ANAPC1 ANGPT2 ANTXR1 ANTXR2 AP2S1 AP3D1 APC APC2 AR ARHGAP26 ARID1A ARID1B ARID2 ARL6IP6 ARMC5 ASCC1 ASCL1 ASPSCR1 ASXL1 ATM ATP2A2 ATP2B1 ATP6V1B2 ATP7A ATR ATRX AURKA AXIN2 B3GALT6 BAP1 BARD1 BAX BCHE BCL10 BCL2 BCL6 BCR BDNF BICC1 BIN1 BIRC3 BLM BLNK BMPER BMPR1A BMPR1B BRAF BRCA1 BRCA2 BRD4 BRIP1 BTK BUB1 BUB1B BUB3 C1S C2CD3 CACNA1S CALR CARD14 CARMIL2 CARS1 CASP10 CASP8 CASR CASZ1 CAT CBL CCBE1 CCDC22 CCL2 CCM2 CCND1 CD19 CD27 CD28 CD4 CD70 CD79A CD79B CD81 CD96 CDC73 CDH1 CDH23 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEBPA CEP120 CEP57 CHD7 CHEK2 CHIC2 CHMP2B CHRNG CIB1 CLCN2 CLCNKB CLPB COG1 COL11A2 COL14A1 COL17A1 COL1A1 COL2A1 COL4A5 COL4A6 COL7A1 COQ6 CPLANE1 CPLX1 CR2 CREB1 CREBBP CRKL CSF3R CTBP1 CTC1 CTHRC1 CTLA4 CTNNB1 CTPS1 CTRC CTSA CTSC CXCR4 CYLD CYP11B1 CYP11B2 CYP26C1 CYP2A6 CYP2D6 CYSLTR2 DAXX DCC DCLRE1C DDB2 DDR2 DDX41 DDX59 DEF6 DHCR24 DHCR7 DHH DHX37 DIAPH1 DICER1 DIS3L2 DISP1 DKC1 DLC1 DLEC1 DLK1 DLL1 DLST DMRT3 DNAJB11 DNAJC21 DNASE1L3 DNM2 DNMT3A DOCK8 DPF2 DPM1 DPYSL5 DUT DVL1 DVL3 DYNC2H1 DYNC2LI1 DZIP1L ECE1 ECM1 EDN1 EDN3 EDNRB EFL1 EGFR EIF2AK4 EIF3F ELANE ELMO2 ELP1 ENG ENPP1 EP300 EPAS1 EPCAM EPHB2 EPHB4 ERBB2 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ESCO2 ESR1 ETV6 EVC EVC2 EWSR1 EXT1 EXT2 EXTL3 EYA1 F13A1 F13B FAM149B1 FAM20A FAM20C FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FAT4 FBXO28 FCHO1 FCN3 FDPS FERMT1 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIBP FLCN FLI1 FLNA FLT3 FLT4 FOCAD FOXC2 FOXE1 FOXH1 FOXI1 FOXO1 FOXP1 FUZ FZD2 GABRD GANAB GAS1 GATA1 GATA2 GATA4 GBA1 GCDH GCGR GCM2 GDF2 GDF5 GDNF GFI1 GINS1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GLI1 GLI2 GLI3 GNA11 GNA14 GNAI3 GNAQ GNAS GNB1 GNPTAB GPC3 GPC4 GPC6 GPR101 GPR143 GPR161 GREM1 GRN GTF2E2 GTF2H5 H19 H4C5 H4C9 HABP2 HACE1 HAVCR2 HAX1 HDAC4 HEATR3 HEPACAM HLA-DQA1 HLA-DQB1 HLA-DRB1 HMMR HNF1A HNF1B HOXD13 HPGD HRAS HS2ST1 HSCB HSPA9 HSPG2 ICOS IDH1 IDH2 IFIH1 IFNG IFT140 IGF2 IGHG2 IGHM IGKC IGLL1 IKBKG IKZF1 IKZF3 IL2RG IL6 IL6ST IL7 IL7R ING1 INTU IPO8 IRF1 IRF2BP2 ITK IVNS1ABP JAG1 JAK2 KANSL1 KARS1 KAT6B KCNAB2 KCNE3 KCNH1 KCNJ10 KCNJ11 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KCTD1 KDM6B KDR KDSR KEAP1 KIAA0586 KIAA0753 KIF11 KIF1B KIF7 KIT KLF6 KLHDC8B KLLN KRAS KRIT1 KRT1 KRT10 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B L2HGDH LAMA3 LAMB3 LAMC2 LBX1 LEMD3 LETM1 LIG4 LIN28B LMNA LMO1 LMOD1 LPP LRBA LRP1 LRRC8A LSM11 LUZP1 LZTR1 LZTS1 MAD1L1 MAD2L2 MAFA MAGT1 MALT1 MAN2C1 MAP2K1 MAP2K2 MAP3K1 MAP3K8 MAPK1 MAPRE2 MAPT MAX MBD4 MBTPS2 MC1R MC2R MCC MCM4 MDH2 MDM2 MDM4 MEFV MEG3 MEN1 MET MFN2 MGAT2 MGMT MINPP1 MITF MLH1 MLH3 MLLT10 MMP1 MMP23B MN1 MNX1 MPL MPLKIP MRAP MRE11 MS4A1 MSH2 MSH3 MSH6 MSL3 MSR1 MST1R MSTO1 MSX2 MT-ND5 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MTAP MTMR14 MTOR MUC5B MUTYH MVD MVK MXI1 MYC MYCN MYD88 MYF6 MYH11 MYH8 MYLK MYO1H MYSM1 NAB2 NAF1 NAGS NBEAL2 NBN NDP NDUFAF6 NEK1 NEK9 NELFA NF1 NF2 NFATC2 NFIX NFKB1 NFKB2 NHP2 NKX2-1 NLRP1 NNT NOD2 NODAL NOP10 NOTCH1 NOTCH3 NPM1 NQO2 NR0B1 NR3C1 NR4A3 NR5A1 NRAS NRTN NSD1 NSD2 NSUN2 NTHL1 NUMA1 NUP214 NUTM1 OCA2 OCRL OFD1 OGG1 OPCML PALB2 PALLD PARN PAX3 PAX6 PAX7 PBRM1 PCNA PDCD10 PDE11A PDE6D PDGFB PDGFRA PDGFRB PDGFRL PDPN PERP PGM3 PHB1 PHF21A PHOX2B PICALM PIEZO1 PIGG PIGL PIK3CA PIK3CD PIK3R1 PKD1 PKD2 PKHD1 PLA2G2A PLAG1 PLCB4 PLCD1 PMS1 PMS2 PNP POFUT1 POGLUT1 POLD1 POLE POLH POLR1B POLR1C POLR1D POR PORCN POT1 POU6F2 PPM1D PPP1CB PPP2R1B PRCC PRDM16 PRF1 PRKACA PRKACB PRKAR1A PRKCD PRKCZ PRKN PRLR PSEN1 PSENEN PTCH1 PTCH2 PTEN PTH1R PTPN11 PTPN12 PTPRC PTPRJ PUF60 RABL3 RAD21 RAD50 RAD51 RAD51C RAD51D RAD54B RAD54L RAF1 RAG1 RAG2 RARA RASA1 RASGRP1 RB1 RB1CC1 RBM8A RECQL4 RELA RERE REST RET RFWD3 RHBDF2 RHOH RMRP RNASEH2A RNASEH2B RNASEH2C RNASEL RNF113A RNF139 RNF43 RNF6 RNU7-1 RPA1 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS2 RSPO1 RSPRY1 RTEL1 RTL1 RUNX1 RYR1 SAMD9 SAMD9L SAMHD1 SASH1 SASH3 SBDS SCN10A SCN11A SCN4A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC23A SEC23B SEMA3C SEMA3D SEMA4A SETBP1 SETD2 SF3B1 SFTPA2 SFTPC SH2B3 SH2D1A SH3GL1 SHH SHOC2 SHOX SIX1 SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A3 SLC17A9 SLC22A18 SLC25A11 SLC26A2 SLC26A4 SLC37A4 SLC39A7 SLC45A2 SLC6A17 SLCO2A1 SLX4 SMAD4 SMARCA4 SMARCAD1 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMO SMPD1 SNAI2 SOCS1 SOS1 SOX11 SOX2 SOX4 SOX6 SOX9 SPEN SPI1 SPINK1 SPRED1 SPTBN1 SQSTM1 SRC SRD5A3 SREBF1 SRGAP1 SRP19 SRP54 SRP72 SRSF2 SRY SSX2 STAC3 STAG3 STAR STAT1 STAT3 STAT6 STIM1 STK11 STK4 STS SUFU SYK TAF1 TAF15 TAL1 TAL2 TARS1 TBC1D24 TBX2 TBXT TCF3 TCF4 TCIRG1 TCOF1 TCTN3 TDGF1 TEK TERC TERF2IP TERT TET2 TFAP2A TFE3 TG TGFBR1 TGFBR2 TGIF1 THPO THSD1 TIAM1 TINF2 TLR2 TMC6 TMC8 TMEM106B TMEM107 TMEM127 TMEM216 TMEM231 TNFRSF10B TNFRSF13B TNFRSF13C TNFRSF1B TNFRSF4 TNFRSF9 TNFSF12 TOM1 TOP2A TOPORS TP53 TP63 TPP2 TRAF7 TREM2 TREX1 TRIM28 TRIM37 TRIP13 TRPM3 TRPS1 TRPV3 TSC1 TSC2 TSR2 TTC7A TUBB TWIST1 TXNRD2 TYMS TYR TYROBP UBA1 UBE2T UBE4B UROS USB1 USF3 USP48 USP8 USP9X VAMP7 VANGL1 VANGL2 VCP VHL VPS16 VPS35L WAS WASHC5 WDPCP WIPF1 WNT10A WNT5A WRAP53 WRN WT1 WWOX XIAP XPA XPC XRCC2 XRCC3 XRCC4 YY1 ZAP70 ZFHX3 ZFPM2 ZFTA ZIC2 ZNRF3 ZSWIM6 HP_NEOPLASM_BY_HISTOLOGY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_BY_HISTOLOGY AAGAB ABCA5 ACD ACTB ACVR1 ADA2 AKT1 ALX4 ANAPC1 ANGPT2 ANTXR2 APC APC2 ARID1A ARID1B ARID2 ASCL1 ASPSCR1 ASXL1 ATP6V1B2 AURKA AXIN2 BAP1 BARD1 BAX BCL10 BDNF BLM BMPER BMPR1A BMPR1B BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 C1S CASP10 CASZ1 CCND1 CDC73 CDK4 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CEP57 CHEK2 COL14A1 COL17A1 COL1A1 COL4A5 COL4A6 COL7A1 CPLANE1 CREB1 CTNNB1 CTSC CXCR4 CYSLTR2 DCC DDB2 DHCR24 DHX37 DICER1 DIS3L2 DKC1 DLC1 DLK1 DLST DMRT3 DPF2 DYNC2LI1 DZIP1L EDN3 ELMO2 EP300 EPCAM EPHB4 ERBB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 EWSR1 EXT1 EXT2 FAM149B1 FAM20A FAM20C FAN1 FAS FASLG FGF3 FGFR1 FGFR3 FH FIBP FLCN FLI1 FLNA FLT4 FOXC2 FOXO1 GABRD GATA1 GATA4 GCDH GDF5 GDNF GJC2 GLI3 GNA11 GNAQ GNAS GPC3 GPC4 GREM1 H19 HDAC4 HEATR3 HRAS HSPG2 IDH1 IDH2 IFNG IGF2 IL6ST KANSL1 KCNAB2 KCNH1 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KEAP1 KIAA0753 KIF1B KIF7 KIT KLLN KRAS KRT1 KRT10 KRT17 LBX1 LMNA LRP1 LUZP1 MAD1L1 MAN2C1 MAP2K1 MAP3K1 MAPRE2 MAX MBD4 MBTPS2 MC1R MCC MDH2 MDM2 MEG3 MEN1 MGMT MITF MLH1 MLH3 MMP1 MMP23B MNX1 MRE11 MSH2 MSH3 MSH6 MTAP MUTYH MVK MYO1H NBN NEK9 NF1 NF2 NLRP1 NOTCH3 NR0B1 NR4A3 NR5A1 NRAS NSD1 NUTM1 OCA2 OFD1 PALB2 PALLD PAX3 PAX6 PAX7 PDE11A PDE6D PDGFB PDGFRA PDGFRB PDGFRL PDPN PERP PHF21A PHOX2B PIEZO1 PIK3CA PKHD1 PLA2G2A PLCD1 PMS1 PMS2 POLE POLH POT1 POU6F2 PRDM16 PRKAR1A PRKCD PRKCZ PRLR PTCH1 PTEN PTH1R PTPN11 PTPN12 PTPRJ RABL3 RAD50 RAD51 RAD51C RAD51D RAD54B RAF1 RASGRP1 RB1 RECQL4 RELA RERE REST RET RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO1 RSPRY1 RTL1 RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SETD2 SF3B1 SIX6 SKI SKIC2 SKIC3 SLC22A18 SLC25A11 SLC37A4 SLC6A17 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SOS1 SOX11 SOX2 SOX4 SOX9 SPEN SPRED1 SPTBN1 SQSTM1 SRC SRY SSX2 STK11 SUFU TAF15 TCTN3 TERF2IP TERT TFAP2A TGFBR2 TIAM1 TLR2 TMEM127 TMEM216 TOPORS TP53 TRAF7 TRIM28 TRIM37 TRIP13 TRPV3 TSC1 TSC2 TSR2 TUBB TYMS TYR UBE4B USF3 VAMP7 VHL VPS16 WRN WT1 WWOX XPA XPC YY1 ZFPM2 ZFTA HP_NEOPLASM_OF_FATTY_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_FATTY_TISSUE ABCC6 AKT1 ALX1 ALX3 AP2S1 APC BMPR1A CCL2 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C COQ6 ENPP1 FGFR1 FLCN FUZ GNA11 HEPACAM KCTD1 KLLN KRAS LEMD3 LZTR1 MAD1L1 MEN1 MFN2 MSTO1 MT-ND5 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 NF2 PIK3CA PTEN RPL10 SDHB SDHC SDHD SEC23B SMARCB1 SPRED1 TAF1 TBXT USF3 VANGL1 VANGL2 ZSWIM6 HP_NEOPLASM_OF_HEAD_AND_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_HEAD_AND_NECK AAGAB APC ASCC1 BLM CDKN2A CHEK2 COL14A1 COL4A5 COL4A6 CTHRC1 CTNNB1 DCC DLEC1 FH FOXE1 HABP2 KIT LZTS1 MDM2 MINPP1 MSR1 MYH11 PDE11A PDGFRA PRKAR1A RAD21 RHBDF2 RNF6 SDHA SDHB SDHC STAT1 STK11 TGFBR2 TOM1 TP53 WWOX HP_NEOPLASM_OF_STRIATED_MUSCLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_STRIATED_MUSCLE BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 DICER1 FOXO1 HRAS IFNG KEAP1 MAD1L1 MC1R MDM2 MLH1 NBN NF1 NRAS PAX3 PAX7 PTCH1 SLC22A18 SOX6 TP53 TRIP13 TSC1 TSC2 HP_NEOPLASM_OF_THE_ADRENAL_CORTEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX APC CACNA1S CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHEK2 CLCN2 CTNNB1 CYP11B1 CYP11B2 IDH1 IDH2 IGF2 KCNE3 KCNQ1 KCNQ1OT1 MDM2 MEN1 PRKAR1A PTEN SCN4A TERT TP53 ZNRF3 HP_NEOPLASM_OF_THE_ADRENAL_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_GLAND APC CACNA1S CCND1 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHEK2 CLCN2 CTNNB1 CYP11B1 CYP11B2 DLST DNMT3A EPAS1 FH IDH1 IDH2 IGF2 KCNE3 KCNQ1 KCNQ1OT1 KIF1B MAX MDH2 MDM2 MEN1 NF1 PRKAR1A PTEN RET SCN4A SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TERT TMEM127 TP53 VHL YY1 ZNRF3 HP_NEOPLASM_OF_THE_AUTONOMIC_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_AUTONOMIC_NERVOUS_SYSTEM ASCL1 BDNF EDN3 GDNF KIF1B LBX1 MYO1H PHOX2B RET HP_NEOPLASM_OF_THE_BREAST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_BREAST AAGAB ACD AKT1 APC ATM ATR AXIN2 BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASP10 CASP8 CDH1 CDK4 CDKN2A CDKN2B CHEK2 COL14A1 CTNNB1 ERBB2 ESR1 FAS FASLG FGFR2 GNAS HMMR IDH1 IDH2 KLLN KRAS LMNA MBD4 MC1R MDM2 MEFV MGMT MITF MLH1 MRE11 MSH2 MSH6 NBN NF1 NQO2 NTHL1 OPCML PALB2 PALLD PDE11A PHB1 PIK3CA POLD1 POLE POT1 PPM1D PRKAR1A PRKCD PRKN PRLR PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RAD54L RASGRP1 RB1CC1 RELA RNF43 RPS20 SDHB SDHC SDHD SEC23B SEMA4A SLC22A18 SLC6A17 SMAD4 STK11 TERF2IP TERT TP53 TWIST1 USF3 WRN XRCC3 ZFTA HP_NEOPLASM_OF_THE_COLON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_COLON AAGAB ADA2 APC AXIN2 BLM BMPR1A BRCA1 BRCA2 BUB1 BUB1B BUB3 C1S CDKN2A CEP57 CHEK2 COL14A1 ENG EPCAM FAN1 FLCN FOXE1 GATA1 GREM1 HABP2 HEATR3 KIT KRAS MAD1L1 MBD4 MDM2 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NTHL1 PALB2 PALLD PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PTEN RABL3 RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SDHA SDHB SDHC SEMA4A SH3KBP1 SMAD4 SMAD7 STK11 TGFBR2 TP53 TRIP13 TSR2 HP_NEOPLASM_OF_THE_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EAR APC2 CCND1 CHRNG COG1 COQ6 DDR2 EYA1 FOCAD HRAS IPO8 KARS1 LZTR1 NF2 NFIX NKX2-1 NSD1 SETD2 SIX1 SMARCB1 SPRED1 SYK VHL HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM ABCD1 AIP AKT1 ALG5 ALG9 APC ARID1A ARID1B ARID2 ARMC5 ATP7A ATRX BAP1 BICC1 BMPR1A BRAF CACNA1S CASP10 CASR CCND1 CDC73 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHEK2 CLCN2 CLCNKB COQ6 CTNNB1 CYP11B1 CYP11B2 DAXX DICER1 DLST DNAJB11 DNMT3A DPF2 ECE1 EDN3 EDNRB EPAS1 EPCAM ERBB2 ERBB3 FAN1 FAS FASLG FH FLCN FOXE1 FOXI1 GANAB GCGR GCM2 GDNF GNAS GPR101 GREM1 HABP2 HEPACAM HRAS IDH1 IDH2 IFNG IFT140 IGF2 JAG1 KCNE3 KCNJ10 KCNJ11 KCNQ1 KCNQ1OT1 KEAP1 KIF1B KLLN KRAS LMNA LZTR1 MAFA MAX MDH2 MDM2 MEN1 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 NF1 NF2 NKX2-1 NR3C1 NRAS NRTN PDE11A PDGFB PIK3CA PKD1 PKD2 PMS1 PMS2 PRKAR1A PRKCD PTEN RASGRP1 RET RPS20 SCN4A SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SEMA4A SLC12A3 SLC25A11 SLC26A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SOX11 SOX4 SREBF1 SRGAP1 SUFU TERT TG TGFBR2 TMEM127 TP53 TRAF7 TSC1 TSC2 USF3 USP48 USP8 VHL WRN YY1 ZNRF3 HP_NEOPLASM_OF_THE_EYE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EYE AKT1 BAP1 BRAF CCND1 CHEK2 CYSLTR2 DDB2 DLST ERCC2 ERCC3 ERCC4 ERCC5 FH GNA11 GNAQ IFNG KIF1B KLLN KRT1 KRT10 MAX MBD4 MDH2 MSH6 NDP NF1 NF2 PIK3CA PTEN RB1 RET SDHA SDHAF2 SDHB SDHC SDHD SEC23B SF3B1 SLC25A11 SPRED1 STK11 TMEM127 TP53 TSC1 TSC2 USF3 VHL XPA XPC HP_NEOPLASM_OF_THE_GALLBLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GALLBLADDER ARSA GPR35 MST1 PSAP SEMA4D TCF4 HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT AAGAB ADA2 AKT1 ALX4 APC APC2 AR ARMC5 ASXL1 ATP7A AURKA AXIN2 B3GALT6 BAP1 BARD1 BAX BCL10 BLM BMPER BMPR1A BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C1S CCND1 CDC73 CDH1 CDKN1B CDKN1C CDKN2A CEP57 CHEK2 COL14A1 COL4A5 COL4A6 COQ6 CREBBP CTNNB1 CXCR4 CYP11B1 DCC DHH DHX37 DICER1 DIS3L2 DLC1 DLST DMRT3 DOCK8 EP300 EPCAM EPHB2 ERBB2 EWSR1 EXT2 FAN1 FERMT1 FGFR2 FGFR3 FH FIBP FLCN FLI1 FOXE1 GATA1 GATA2 GATA4 GNAS GPC3 GPC4 GREM1 H19 HABP2 HDAC4 HEATR3 HNF1A HNF1B HRAS IDH1 IDH2 IFNG IGF2 KANSL1 KCNQ1 KCNQ1OT1 KEAP1 KIF1B KIT KLF6 KLLN KRAS LMNA LZTR1 MAD1L1 MAP3K1 MAX MBD4 MC2R MCC MDH2 MDM2 MET MINPP1 MLH1 MLH3 MNX1 MRAP MRE11 MSH2 MSH3 MSH6 MVK MXI1 NAB2 NBN NF1 NF2 NNT NOD2 NR0B1 NR5A1 NRAS NSD1 NTHL1 OGG1 OPCML PALB2 PALLD PAX6 PBRM1 PDE11A PDGFRL PHF21A PIK3CA PLA2G2A PMS1 PMS2 POLD1 POLE POT1 POU6F2 PRCC PRKAR1A PRKN PTCH1 PTEN PTPN12 PTPRJ RABL3 RAD50 RAD51 RAD51C RAD51D RAD54B RB1 RELA REST RET RNASEL RNF139 RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SETD2 SLC25A11 SLC6A17 SMAD4 SMARCA4 SMARCB1 SOX9 SPRED1 SRC SRY STAG3 STAR STAT6 STK11 STS TFE3 TGFBR2 TLR2 TMEM127 TP53 TRIM28 TRIM37 TRIP13 TSC1 TSC2 TSR2 TXNRD2 USF3 VAMP7 VHL WNT10A WRN WT1 WWOX ZFHX3 ZFPM2 ZFTA HP_NEOPLASM_OF_THE_HEART https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_HEART ACTG2 IFNG KCTD1 LMOD1 MYH11 MYH8 MYLK PDE11A PRKAR1A PTCH1 SOX6 TSC1 TSC2 HP_NEOPLASM_OF_THE_INNER_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_INNER_EAR CCND1 COQ6 HRAS KARS1 LZTR1 NF2 SMARCB1 SPRED1 VHL HP_NEOPLASM_OF_THE_LARGE_INTESTINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARGE_INTESTINE AAGAB ADA2 AKT1 APC AURKA AXIN2 BAX BLM BMPR1A BRAF BRCA1 BRCA2 BUB1 BUB1B BUB3 C1S CCND1 CDKN2A CEP57 CHEK2 COL14A1 CTNNB1 DCC DICER1 DLC1 DOCK8 ENG EP300 EPCAM FAN1 FGFR3 FLCN FOXE1 GATA1 GPR35 GREM1 HABP2 HEATR3 KEAP1 KIT KLLN KRAS MAD1L1 MBD4 MCC MDM2 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 MST1 MUTYH NRAS NTHL1 PALB2 PALLD PDE11A PDGFRA PDGFRL PIK3CA PLA2G2A PMS1 PMS2 POLD1 POLE PRKAR1A PTEN PTPN12 PTPRJ RABL3 RAD54B RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SDHA SDHB SDHC SDHD SEC23B SEMA4A SEMA4D SH3KBP1 SMAD4 SMAD7 SRC STK11 TCF4 TGFBR2 TLR2 TP53 TRIP13 TSR2 USF3 HP_NEOPLASM_OF_THE_LARYNX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARYNX CAT CDKN2A CHEK2 MDM2 MLH1 MSH2 MSH6 NLRP1 PORCN RSPO1 TP53 HP_NEOPLASM_OF_THE_LIVER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LIVER ABCB11 ABCB4 ABCC8 AHCY APC APPL1 ARID1A ARID1B ARID2 ATP7B AXIN1 BLK BMP2 BMP6 BMPR1A BRCA1 BRCA2 BTK CASP10 CASP8 CC2D2A CCND1 CDKN1C CDKN2A CEL CPOX CREBBP CTNNB1 DIS3L2 DLK1 DPF2 DZIP1L EP300 EPCAM F5 FAH FAN1 FAS FASLG G6PC1 GCK GIMAP5 GNAS GPC3 GPC4 GPR35 H19 HBB HFE HMBS HNF1A HNF4A IGF2 IGF2R IL12A IL12RB1 INPP5E INS IRF5 JAG1 JAK2 KCNJ11 KCNQ1 KCNQ1OT1 KLF11 KRAS MEG3 MET MLH1 MLH3 MMEL1 MPV17 MSH2 MSH6 MST1 NAB2 NEUROD1 PALB2 PALLD PAX4 PDE11A PDGFRL PDX1 PHKA2 PHKB PHKG2 PIK3CA PKHD1 PMS1 PMS2 POU2AF1 POU6F2 PPOX PRKAR1A PRKCD PYGL RABL3 RASGRP1 RELA REST RPGRIP1L RPS20 RTL1 SEMA4A SEMA4D SERPINA1 SETBP1 SKIC2 SKIC3 SLC25A13 SLC2A2 SLC37A4 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMPD1 SOX11 SOX4 SPIB SPRTN STAT6 TCF4 TGFBR2 TJP2 TMEM67 TNFSF15 TNPO3 TP53 TRIM28 TRIP13 TULP3 UROD VHL WT1 ZFTA HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA AKT1 AR CDC73 CDKN1B CDKN2A CHEK2 CYP11B1 DHX37 DICER1 DMRT3 EWSR1 FLI1 GATA4 IGF2 KANSL1 KEAP1 MAP3K1 MC2R MDM2 MRAP NNT NR0B1 NR5A1 PDE11A PRKAR1A PTEN SOX9 SRY STAR STK11 STS TP53 TXNRD2 VAMP7 WT1 WWOX ZFPM2 HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM AAGAB ADAMTS3 AKT1 ALK ALX1 ALX3 APC APC2 ARMC5 ASCL1 ASXL1 ATRX BAP1 BDNF BMPR1A BRAF BRCA2 BRD4 CASZ1 CCBE1 CCM2 CCND1 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 CHMP2B COL14A1 COQ6 CPLANE1 CREBBP CTNNB1 DAXX DICER1 DLST DNMT3A EDN3 EIF3F ELP1 EP300 EPAS1 EPCAM EPHB2 ERBB2 EWSR1 FAM149B1 FAN1 FAT4 FGFR1 FH FLI1 GABRD GCDH GCGR GDNF GLI3 GNAS GPC3 GPC4 GPR161 GRN HACE1 HRAS HSPG2 IDH1 IDH2 IFNG KARS1 KCNAB2 KCNJ11 KEAP1 KIAA0753 KIF1B KIF7 KIT KLLN KRAS KRIT1 L2HGDH LBX1 LIN28B LMNA LMO1 LRP1 LUZP1 LZTR1 MAFA MAN2C1 MAPRE2 MAPT MAX MBD4 MDH2 MDM2 MEN1 MLH1 MLH3 MMP23B MN1 MSH2 MSH3 MSH6 MYCN MYO1H NAB2 NBN NF1 NF2 NOTCH3 NRAS NSD1 NTHL1 NUTM1 OCRL OFD1 PALB2 PDCD10 PDE11A PDE6D PDGFB PDGFRB PDPN PHOX2B PIK3CA PMS1 PMS2 POLD1 POLE POT1 PRDM16 PRKAR1A PRKCZ PSEN1 PTCH1 PTCH2 PTEN PTPN11 RAF1 RB1 RELA RERE RET RNF43 RPS20 RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SETD2 SIX6 SKI SLC25A11 SMARCB1 SMARCE1 SMO SOX2 SPEN SPRED1 SPTBN1 STAT6 SUFU TCTN3 TERT TGFBR2 TIAM1 TMEM106B TMEM127 TMEM216 TOP2A TOPORS TP53 TRAF7 TREM2 TSC1 TSC2 TUBB UBE4B USF3 VCP VHL VPS16 WDPCP WRN WT1 YY1 ZFTA ZSWIM6 HP_NEOPLASM_OF_THE_ORAL_CAVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ORAL_CAVITY AKT1 APC BAP1 C2CD3 CASP10 CEP120 CPLANE1 DDX59 DYNC2H1 EDN1 FAM149B1 FAS FASLG FGF3 GJB2 GJB6 GNAI3 HSPG2 INTU KAT6B KIAA0586 KIAA0753 KIF7 LMNA MAN2C1 MDM4 MLH1 MSH2 MSH6 MYC NEK1 NF2 OCRL OFD1 PDE6D PDGFB PIK3CA PLAG1 PLCB4 PRKAR1A PRKCD PTCH1 RASGRP1 RSPRY1 SMARCB1 SMARCE1 SMO SUFU TCTN3 TERT TMEM107 TMEM216 TMEM231 TOPORS TRAF7 WDPCP WRAP53 WRN HP_NEOPLASM_OF_THE_PANCREAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PANCREAS AAGAB ACD ACVR1B APC BAP1 BARD1 BMPR1A BRCA1 BRCA2 BRD4 BRIP1 CCND1 CDC73 CDK4 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 CLCNKB COL14A1 CTC1 CTRC DKC1 EPCAM EWSR1 FAN1 FLI1 GCGR KCNJ11 KRAS MAFA MC1R MDM2 MEN1 MGMT MITF MLH1 MLH3 MRE11 MSH2 MSH6 NBN NHP2 NOP10 NOTCH3 NPM1 NTHL1 NUTM1 PALB2 PALLD PARN PDE11A PDGFRB PIK3CA PMS1 PMS2 POT1 PRKAR1A PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RNF43 RPS20 RTEL1 SEMA4A SLC12A3 SMAD4 SPINK1 STK11 TERC TERF2IP TERT TGFBR2 TINF2 TP53 TYMS USB1 VHL WRAP53 WT1 HP_NEOPLASM_OF_THE_PARATHYROID_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLCNKB FLCN GCM2 IDH1 IDH2 IFNG MEN1 NF1 RET SLC12A3 TSC1 TSC2 HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM AKT1 APC ARMC5 ASCL1 ATRX BAP1 BDNF CCM2 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C COQ6 DAXX DLST DNMT3A EDN3 EPAS1 FH GCGR GDNF GNAS HRAS IFNG KARS1 KCNJ11 KIF1B KIT KRIT1 LBX1 LMNA LRP1 LZTR1 MAFA MAX MBD4 MDH2 MEN1 MLH1 MYO1H NF1 NF2 PDCD10 PDE11A PDGFB PHOX2B PIK3CA PRKAR1A RET RNF43 SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SMARCB1 SMARCE1 SMO SPRED1 SPTBN1 SUFU TERT TMEM127 TRAF7 TSC1 TSC2 VHL YY1 HP_NEOPLASM_OF_THE_PITUITARY_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PITUITARY_GLAND AIP AKT1 ALG5 ALG9 APC ARMC5 ATRX BAP1 BICC1 BMPR1A BRAF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C COQ6 CTNNB1 DNAJB11 EPCAM FAN1 GANAB GNAS GPR101 IDH1 IDH2 IFNG IFT140 KRAS LZTR1 MEN1 MLH1 MLH3 MSH2 MSH6 NF2 NR3C1 PDE11A PDGFB PIK3CA PKD1 PKD2 PMS1 PMS2 PRKAR1A RPS20 SEMA4A SMARCB1 SMARCE1 SMO SUFU TERT TGFBR2 TP53 TRAF7 TSC1 TSC2 USP48 USP8 YY1 HP_NEOPLASM_OF_THE_RECTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RECTUM AKT1 APC AXIN2 BMPR1A CDKN2A CHEK2 DICER1 ENG EPCAM FAN1 GREM1 KEAP1 KIT KLLN KRAS MDM2 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NTHL1 PDE11A PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PRKAR1A PTEN RNF43 RPS20 SDHA SDHB SDHC SDHD SEC23B SEMA4A SMAD4 STK11 TGFBR2 TP53 USF3 HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM AAGAB AKT1 APC2 BAP1 BRAF BRCA2 CASP8 CAT CDKN2A CHEK2 COL14A1 COL4A5 COL4A6 CTNNB1 CYP2A6 DICER1 DIS3L2 EGFR ERBB2 ERCC6 EWSR1 FASLG GPC3 H19 HPGD IFNG IRF1 KEAP1 KRAS LMNA MAP3K8 MBTPS2 MDM2 MLH1 MSH2 MSH6 MST1R MUC5B NAB2 NDUFAF6 NLRP1 NOTCH3 NSD1 PDE11A PDGFRB PERP PIK3CA PORCN POT1 POU6F2 PPP2R1B PRKAR1A PRKN PTEN RB1 RELA REST RSPO1 SETD2 SFTPA2 SFTPC SLC22A18 SLCO2A1 SPRED1 STAT6 STK11 TERT TP53 TRIM28 TRIP13 TRPV3 TSC1 TSC2 WRN WT1 ZFTA ZNRF3 HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM AAGAB ACAN ACP5 ADA2 ADAR AKT1 ALX4 ANAPC1 APC ATP7A BMPR1A CDKN2A CHEK2 CHRNG COL11A2 COL14A1 COL2A1 EPCAM EXT1 EXT2 FAN1 FGFR1 FGFR3 GATA1 GLI3 HEATR3 IDH1 IDH2 IFIH1 IFNG IPO8 KRAS LMNA LSM11 MAD1L1 MDM2 MLH1 MLH3 MSH2 MSH6 MSX2 MTAP NFATC2 NR4A3 PDE11A PHF21A PIK3CA PMS1 PMS2 POLR1B POLR1C POLR1D PORCN PRKAR1A PTEN PTH1R PTPN11 RAD21 RB1 RECQL4 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SAMHD1 SEMA4A SHOX SOX6 SQSTM1 TAF15 TCOF1 TGFBR2 TP53 TREX1 TRPS1 TSC1 TSC2 TSR2 WRN HP_NEOPLASM_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKIN AAGAB AARS1 AKT1 ALX3 ANAPC1 ANGPT2 AP3D1 APC ATP2A2 ATR BAP1 BLM BLNK BMPR1A BRAF BRD4 CARMIL2 CARS1 CASP10 CD28 CD4 CD79A CD79B CDK4 CDKN1B CDKN2A CIB1 COL14A1 COL17A1 COL1A1 COL7A1 COQ6 CREBBP CTLA4 CTNNB1 CTSC CXCR4 CYLD DCLRE1C DDB2 DICER1 DKC1 DOCK8 ECM1 EP300 EPCAM ERCC2 ERCC3 ERCC4 ERCC5 FAN1 FAS FASLG FCN3 FDPS FERMT1 FGFR1 FH FLCN FLT4 FOXE1 GATA1 GATA2 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GNA14 GNAS GPR143 GTF2E2 GTF2H5 HPGD HRAS IFNG IGHM IGLL1 IKBKG IL6 IL7 ING1 IVNS1ABP KDSR KEAP1 KIT KLLN KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B LAMA3 LAMB3 LAMC2 LMNA LRP1 LRRC8A LZTR1 MAD1L1 MBTPS2 MC1R MEN1 MITF MLH1 MLH3 MMP1 MPLKIP MSH2 MSH3 MSH6 MVD MVK NAF1 NF1 NF2 NLRP1 NOTCH3 NRAS NTHL1 NUTM1 OCA2 OCRL PDE11A PDGFB PDGFRB PERP PIEZO1 PIK3CA PIK3R1 PLCD1 PMS1 PMS2 POFUT1 POGLUT1 POLH PORCN PRKAR1A PRKCD PSENEN PTCH1 PTCH2 PTEN RASA1 RASGRP1 RECQL4 RHOH RMRP RNF113A RPS19 RPS20 RSPO1 SASH1 SASH3 SDHB SDHC SDHD SEC23B SEMA4A SLC17A9 SLC39A7 SLC45A2 SLCO2A1 SLX4 SMARCAD1 SMARCB1 SMARCE1 SMO SNAI2 SPI1 SPRED1 SPTBN1 STAT1 STIM1 STK11 STK4 SUFU TARS1 TCF3 TERC TERT TGFBR2 TINF2 TMC6 TMC8 TNFRSF10B TNFRSF1B TNFRSF4 TOM1 TP53 TPP2 TRAF7 TRPV3 TSC1 TSC2 TYMS TYR UROS USF3 WNT10A WRN XPA XPC HP_NEOPLASM_OF_THE_SMALL_INTESTINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SMALL_INTESTINE AAGAB APC BMPR1A COL14A1 GREM1 KIT LMNA MLH1 MSH2 NTHL1 PDGFRA SDHA SDHB SDHC SDHD SMAD4 STK11 WRN HP_NEOPLASM_OF_THE_STOMACH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_STOMACH AAGAB ACD AKT1 APC AURKA AXIN2 BAP1 BAX BCL10 BLM BMPR1A BRAF BUB1 BUB1B BUB3 CASP10 CCND1 CDH1 CDK4 CDKN2A CDKN2B CEP57 CHEK2 COL14A1 CTNNB1 DCC DLC1 ENG EP300 ERBB2 FGFR2 FGFR3 FLCN IL1B IL1RN IRF1 KIT KLF6 KRAS MC1R MCC MDM2 MGMT MITF MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NRAS PDE11A PDGFRA PDGFRL PIK3CA PLA2G2A POT1 PRKAR1A PTCH1 PTPN12 PTPRJ RAD54B RPS20 SDHA SDHB SDHC SEMA4A SMAD4 SRC STK11 TERF2IP TERT TLR2 TP53 TREX1 TRIP13 HP_NEOPLASM_OF_THE_THYMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYMUS AKT1 CDKN1A CDKN1B CDKN2B CDKN2C MEN1 PTEN HP_NEOPLASM_OF_THE_THYROID_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYROID_GLAND ABCD1 AKT1 APC ARID1A ARID1B ARID2 ATP7A BMPR1A CASP10 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 DICER1 DPF2 ECE1 EDN3 EDNRB EPCAM ERBB2 ERBB3 FAN1 FAS FASLG FLCN FOXE1 FOXI1 GDNF GREM1 HABP2 HEPACAM HRAS JAG1 KCNJ10 KEAP1 KLLN KRAS LMNA MDM2 MEN1 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 NKX2-1 NRAS NRTN PDE11A PIK3CA PMS1 PMS2 PRKAR1A PRKCD PTEN RASGRP1 RET RPS20 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SEMA4A SLC26A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMO SOX11 SOX4 SREBF1 SRGAP1 TG TGFBR2 TP53 USF3 WRN HP_NEOPLASM_OF_THE_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TONGUE AKT1 BAP1 C2CD3 CASP10 CEP120 CPLANE1 DDX59 DYNC2H1 EDN1 FAM149B1 FAS FASLG GJB2 GJB6 GNAI3 INTU KAT6B KIAA0586 KIAA0753 KIF7 MAN2C1 MDM4 NEK1 NF2 OFD1 PDE6D PDGFB PIK3CA PLCB4 PRKCD RASGRP1 SMARCB1 SMARCE1 SMO SUFU TCTN3 TERT TMEM107 TMEM216 TMEM231 TOPORS TRAF7 WDPCP WRAP53 HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM BRAF CASP8 COL4A5 COL4A6 CYP2A6 DICER1 EGFR ERBB2 ERCC6 FASLG IRF1 KEAP1 KRAS MAP3K8 MUC5B PIK3CA PPP2R1B PRKN SFTPA2 SFTPC SLC22A18 TERT HP_NEPHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRITIS ACTN4 ALDH18A1 ALG5 ALG9 ALMS1 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BANK1 BICC1 BLK BNC2 C1QA C3 C4A C4B CASP10 CD151 CD2AP CD81 CFHR5 CFI COL4A3 COL4A4 COL4A5 COL7A1 COPA COQ8B CR2 CRB2 CTLA4 DAAM2 DGKE DNAJB11 DNASE1 DNASE1L3 DNASE2 EFEMP2 ELN EMP2 ETS1 FAS FASLG FBLN5 FCGR2A FCGR2B FCGR3B FOXP3 GANAB GAPVD1 HLA-DRB1 HMOX1 HOXA13 IFT140 IGHG1 IL10 INF2 IRAK1 IRF5 ITGAM JAK1 JAZF1 KANK2 KCTD1 KIAA0319L KIRREL1 LAGE3 LMNB2 LMX1B LTBP1 MAGI2 MECP2 MED12 MME MMP1 MYCN MYH11 MYH9 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PDCD1 PGM3 PKD1 PKD2 PLCE1 PLG PRKCD PTPN22 PTPRO PXK RASGRP1 SAT1 SHANK3 SLC37A4 SLC7A7 SMARCAL1 SOCS1 SOX18 SPP1 STAT4 TBC1D8B TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 TRIM8 TRPC6 UBE2L3 UMOD VPS33A WDR19 WT1 XDH ZAP70 ZNFX1 HP_NEPHROBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROBLASTOMA ALX4 ASXL1 BLM BRCA2 BUB1 BUB1B BUB3 C1S CDC73 CDKN1C CEP57 DHX37 DICER1 DIS3L2 DMRT3 EXT2 FIBP GATA4 GPC3 GPC4 H19 HDAC4 HRAS IGF2 KCNQ1 KCNQ1OT1 MAP3K1 NR0B1 NR5A1 PALB2 PAX6 PHF21A PIK3CA POU6F2 PTCH1 REST SETBP1 SOX9 SPRED1 SRY TP53 TRIM28 TRIM37 TRIP13 VAMP7 WT1 WWOX ZFPM2 HP_NEPHROCALCINOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROCALCINOSIS ABCC6 ADAT3 AGXT AIRE ALPL AMMECR1 ATP1A1 ATP6V0A4 ATP6V1B2 ATP6V1E1 BAZ1B BCL7B BSND BTNL2 BUD23 CASR CDC73 CDKN1C CLCN5 CLCNKA CLCNKB CLDN16 CLDN19 CLIP2 CLPB COL4A3 CTNS CYP24A1 DNAJC21 DNAJC30 DYNC2I2 EIF4H ELN ENPP1 FAH FAM20A FGF23 FKBP6 FUT8 GALNT3 GATA3 GCM2 GEMIN4 GNA11 GRHPR GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 HNF4A HOGA1 HPRT1 HSD11B2 IGF2 INSR KCNJ1 KCNQ1 KCNQ1OT1 LIMK1 MAGED2 MEFV MEN1 METTL27 MLXIPL MYO5B NCF1 OCRL OXGR1 PEX3 PIGT PIK3C2A POLRMT PTH PTH1R RFC2 ROR2 RRAGD SBDS SLC12A1 SLC1A2 SLC2A2 SLC34A1 SLC34A3 SLC37A4 SLC4A1 SRCAP SRP54 STRADA STX1A STX3 TBC1D24 TBL2 TMEM270 TOR1A TRNT1 TTC26 VIPAS39 VPS33B VPS37D ZNF687 HP_NEPHROGENIC_DIABETES_INSIPIDUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROGENIC_DIABETES_INSIPIDUS AQP2 ARL6 AVPR2 BBS1 CCDC28B CRLS1 VIPAS39 VPS33B HP_NEPHROLITHIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROLITHIASIS ACVRL1 ADAMTSL1 ADCY10 AGPAT2 AGXT AIP ALG5 ALG9 ANTXR1 AP2S1 APRT ARMC5 ARSK ATP6V1B1 ATP7B BAZ1B BCL7B BICC1 BSCL2 BTNL2 BUD23 CA2 CACNA1D CAMKMT CASR CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CEACAM3 CEACAM6 CFTR CHKA CHST14 CLCA4 CLCN5 CLDN10 CLDN16 CLDN19 CLDN2 CLIP2 COQ6 CREBBP CTH CTNS CYP24A1 DCTN4 DNAJB11 DNAJC30 DSE EDNRA EIF4H ELN ENG EP300 FBN1 FKBP6 G6PC1 GANAB GCLC GCM2 GDF2 GNA11 GNAS GRHPR GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HFE HGD HLA-DRB1 HMOX1 HNF1B HOGA1 HPRT1 HSPG2 IFT140 IGF2 KCNH1 KCNN4 KCNQ1 KCNQ1OT1 KL KRT17 LIMK1 MEN1 METTL27 MGME1 MIF MLXIPL MOCOS MOCS1 MOCS2 MYL9 NCF1 NHERF1 NOD2 OCRL OPLAH OXGR1 PAX2 PIDD1 PKD1 PKD2 PLCD1 PLG PPM1B PREPL PRPS1 RFC2 ROR2 SERPINA1 SERPINH1 SETBP1 SI SLC11A1 SLC1A1 SLC22A12 SLC26A1 SLC26A9 SLC2A9 SLC34A1 SLC34A2 SLC34A3 SLC36A2 SLC37A4 SLC3A1 SLC4A1 SLC5A1 SLC6A14 SLC7A9 SLC9A3 SMAD4 SPRED1 STX1A TBC1D7 TBL2 TGFB1 TMEM270 USP8 VDR VPS37D XDH HP_NEPHRONOPHTHISIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRONOPHTHISIS AHI1 ANKS6 CEP120 CEP164 CEP290 CEP41 CEP83 DCDC2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 FAN1 GLIS2 IFT140 IFT172 IFT43 IFT80 INVS IQCB1 KIAA0753 MAPKBP1 NEK8 NPHP1 NPHP3 NPHP4 RPGRIP1L SDCCAG8 TMEM138 TMEM216 TMEM67 TRAF3IP1 TRIP11 TTC21B WDR19 XPNPEP3 ZNF423 HP_NEPHROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROPATHY ABCC8 ADA2 APOA1 APPL1 B2M BLK CC2D2A CCND1 CEL CEP120 CEP290 CISD2 CLDN19 COL4A5 COL4A6 CPOX DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 FAM20A FGA FOXI1 GCK GLA GON7 HIC1 HNF1A HNF4A HPRT1 IFT140 IFT172 IFT80 INPP5E INS KCNJ10 KCNJ11 KIAA0753 KLF11 LAGE3 LYZ MAFB MEFV MMACHC MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYH9 NEUROD1 NLRP3 NOD2 NPHP1 NUP107 NUP133 OSGEP PAFAH1B1 PAX4 PAX6 PDX1 PRDX1 PRODH RPGRIP1L SAA1 SCARB2 SCNN1A SCNN1B SCNN1G SEC61A1 SLC26A4 SLC2A2 SLC5A2 SMARCAL1 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TP53RK TPRKB TREX1 TTC21B TTR UMOD VIPAS39 VPS33B WAS WDR19 WDR4 WDR73 WFS1 WIPF1 WT1 YRDC YWHAE ZNF423 HP_NEPHROTIC_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROTIC_SYNDROME ADA ALG1 ANLN APOA1 ARHGDIA ARL6 AVIL B2M BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C1QBP C3 CASP10 CCND1 CEP19 CEP290 CFAP418 CHD7 CHST14 COL4A3 COL4A4 COL4A5 COQ2 COQ6 COQ8B CRB2 CYBC1 DAAM2 DCLRE1C DGKE DHX37 DMRT3 EMP2 FGA FN1 FOXP3 GATA3 GATA4 GLA GON7 GSN IFIH1 IFT172 IFT27 IFT74 IL2RG IL7R IRAK1 ITGA3 JAK1 KANK2 KIRREL1 LAGE3 LAMA5 LAMB2 LIG4 LMNB2 LMX1B LYZ LZTFL1 MAGI2 MAP3K1 MARS1 MEFV MKKS MKS1 MME MYO1E NEXMIF NLRP3 NOS1AP NPHP1 NPHS1 NPHS2 NR0B1 NR5A1 NUP107 NUP133 NUP160 NUP205 NUP85 NUP93 OSGEP PAX2 PDSS2 PLCE1 PMM2 PRKCD PTPRO PUS3 RAG1 RAG2 RASA1 RMRP SAA1 SAT1 SCAPER SCARB2 SCLT1 SDCCAG8 SERPINA1 SGPL1 SLC17A5 SLC35A2 SMARCAL1 SNAP29 SOX9 SPP1 SRY STAT4 TBC1D8B TP53RK TPRKB TRIM32 TRIM8 TRPC6 TTC8 VAMP7 VPS33A WDPCP WDR4 WDR73 WT1 WWOX YRDC ZAP70 ZFPM2 ZNF592 ZNFX1 HP_NEURALGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURALGIA AKT1 BAP1 NF2 PDGFB PIK3CA PRNP SH3TC2 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_NEURAL_TUBE_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURAL_TUBE_DEFECT ABCD1 ACTB AHI1 AIPL1 ALG3 ALX1 ALX3 ALX4 AMER1 ARHGAP31 ARID1B ARL13B ARL3 ARMC9 ARPC4 ARSB ARVCF ATP6V1B2 B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCL7B BICD2 BMP2 BMPER BMS1 BRAF BRCA1 BRCA2 BRIP1 BTD BUD23 C2CD3 CBY1 CC2D2A CCBE1 CCL2 CCNQ CDH1 CDK13 CDON CEP104 CEP120 CEP290 CEP41 CEP55 CHN1 CHRNG CLIP2 COL18A1 COL2A1 COLEC10 COLEC11 COMT CPLANE1 CRB1 CREBBP CRPPA CRX CSPP1 CUL7 CYP26B1 CYP27A1 DACT1 DARS1 DISP1 DKK1 DLK1 DLL1 DLL3 DLL4 DNAJC30 DOCK6 EIF4H ELN EOGT EP300 ERCC4 ESCO2 EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF8 FGFR1 FGFR3 FIBP FKBP6 FKRP FKTN FLI1 FLNA FLNB FLVCR2 FOXH1 FRAS1 FREM2 FUZ GALNS GAS1 GDF3 GDF6 GJA1 GLB1 GLI2 GLI3 GMPPB GNPTAB GP1BB GPKOW GRIP1 GTF2I GTF2IRD1 GTF2IRD2 GUCY2D H19 HAAO HES7 HIRA HMX1 HNRNPK HOXD13 HRAS HSPG2 HYLS1 IFT140 IFT74 IGF2 IKBKG IMPDH1 INPP5E IQCB1 IRF6 ITGB4 JMJD1C KANSL1 KATNIP KCNH1 KCNJ13 KCNQ1OT1 KIAA0586 KIAA0753 KIF22 KIF7 LAMB1 LARGE1 LCA5 LFNG LIG4 LIMK1 LMX1B LRAT MAD2L2 MAFB MAP3K7 MASP1 MEG3 MEOX1 MESP2 METTL27 MKS1 MLXIPL MSX2 MTHFD1 MTHFR MTR MTRR MYH3 NAXE NCF1 NDE1 NEK9 NF1 NF2 NMNAT1 NODAL NOTCH1 NOTCH2NLC NOTCH3 NPHP1 NSUN2 NUAK2 OFD1 PAK2 PALB2 PAX3 PCYT1A PDE6D PHGDH PIBF1 PIK3CA PLCH1 PLEC POLA1 POLR1B POLR1C POLR1D POMGNT1 POMK POMT1 POMT2 PORCN PSAT1 PTCH1 PTDSS1 PTPN11 PUF60 RAB23 RAD51 RAD51C RAF1 RASA1 RBM8A RBPJ RD3 RDH12 RECQL4 RFC2 RFWD3 RIPPLY2 RMRP RORA RPE65 RPGRIP1 RPGRIP1L RPS19 RREB1 RTL1 RUNX2 RXYLT1 SALL4 SC5D SEC24C SETBP1 SF3B2 SHH SIN3A SIX3 SLC25A19 SLX4 SMC1A SMO SNRPB SOX9 SPATA7 STAG2 STIL STX1A SUFU SUPT16H TBC1D24 TBL2 TBX1 TBX15 TBX6 TBXT TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM270 TMEM67 TMTC3 TNXB TOGARAM1 TRIM36 TUBB4B TULP1 TXNDC15 UBA2 UBE2T UFD1 USP45 VANGL1 VANGL2 VPS37D VSX1 WBP11 WDR81 WNT7A XRCC2 ZIC1 ZIC2 ZIC3 ZNF423 ZSWIM6 HP_NEURODEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURODEGENERATION AARS2 ABCD1 ADAR ANG ANXA11 ATXN2 ATXN3 C19orf12 CCNF CFAP410 CHCHD10 CHMP2B COASY COQ2 CSF1R DAO DCTN1 DLAT EPHA4 ERBB4 ERCC6 FA2H FIG4 FOLR1 FTL FUS GALC GLE1 GLT8D1 GM2A GUSB HNRNPA1 HSD17B10 HTT IDS IDUA IFIH1 LSM11 LYST MAPT MATR3 MFSD8 NAE1 NARS2 NAXD NBN NEFH NEK1 OPTN PANK2 PCNA PDE8B PFN1 PLA2G6 PON1 PON2 PON3 PPARGC1A PRPH RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC2A3 SOD1 SPTBN1 SQSTM1 TAF15 TANGO2 TARDBP TBK1 TREM2 TREX1 TTC19 TXN2 UBQLN2 UBTF UCHL1 UNC13A VAPB VCP WDR45 ZBTB20 HP_NEUROENDOCRINE_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROENDOCRINE_NEOPLASM APC ARMC5 ATRX CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DAXX DLST DNMT3A EPAS1 FH GCGR GNAS HRAS IFNG KCNJ11 KIF1B LMNA MAFA MAX MDH2 MEN1 NF1 PRKAR1A RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TSC1 TSC2 VHL YY1 HP_NEUROFIBRILLARY_TANGLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBRILLARY_TANGLES ABCA7 APOE APP CHMP2B CYLD GRN ITM2B MAPT MPO NOS3 NPC1 NPC2 PLA2G6 PLAU PRNP PSEN1 PSEN2 SORL1 TMEM106B TOMM40 TREM2 VCP VPS13C HP_NEUROFIBROMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBROMA AKT1 BAP1 KIT LRP1 MLH1 NF1 NF2 PDGFB PIK3CA SDHB SDHC SMARCB1 SMARCE1 SMO SPRED1 SPTBN1 SUFU TERT TRAF7 HP_NEUROGENIC_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROGENIC_BLADDER ACER3 ARNT2 ATP13A2 ATXN3 CEP85L CHCHD10 CHRNA3 CISD2 CLCN6 COG5 COG7 ELOVL1 EN1 EPHB4 ERCC6 ERCC8 FARS2 FBXO7 GBE1 GJA1 GNB1 HES7 LIG3 MACF1 MAP3K7 MARS2 MNX1 MTFMT NOTCH3 PEX3 PLP1 PPOX RASA1 SNCA TBCD TBCK TRAPPC12 VANGL1 VPS11 WFS1 HP_NEUROINFLAMMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROINFLAMMATION C4A CCR1 CTLA4 ERAP1 FAS HLA-B IFNGR1 IKBKG IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV NLRP3 NOD2 POLG PRORP STAT4 TK2 TLR4 TLR7 UBAC2 HP_NEUROMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMA CCM2 KRIT1 NF1 NF2 PDCD10 PIK3CA HP_NEUROMUSCULAR_DYSPHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMUSCULAR_DYSPHAGIA ACTA1 COQ2 FARS2 GALC KBTBD13 KLHL41 MAPT MYPN NEB TPM2 TPM3 HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM ADH1C ATXN2 ATXN8OS BRAT1 BSCL2 C9orf72 CHMP2B CSF1R CTSD CTSF DNMT1 FIG4 FUS GBA1 GLUD2 GRN HTT KCNT1 MAPT MT-TT NARS2 NPC1 NR4A2 PDYN PIGA PLA2G6 POLG PRNP PSAP PSEN1 SCO2 SERPINI1 SLC9A6 SNCAIP TBCD TBP VAC14 VAPB ZNHIT3 HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX CHCHD10 FUS PC PIGA SQSTM1 TARDBP TBK1 VCP HP_NEUROPATHIC_ARTHROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_ARTHROPATHY ATL1 ATL3 ELP1 NTRK1 SPTLC1 SPTLC2 HP_NEUROPATHIC_SPINAL_ARTHROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_SPINAL_ARTHROPATHY AGRN CHAT COL13A1 EBP EXT1 EXT2 FKRP GDAP1 GMPPB GNE LARGE1 MGME1 MYO9A POMT1 POMT2 SH3TC2 SLC18A3 SLC25A1 SLC5A7 SNAP25 SNX14 SYT2 VAMP1 HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES CASP10 CIITA CTLA4 FAS FASLG FCGR3B FOXP3 ICOS ITCH PGM3 PIK3CG PNP PRKCD RAG1 RASGRP1 RFX5 RFXANK RFXAP SASH3 STAT1 STAT3 TOM1 TPP2 HP_NEUTROPHILIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPHILIA ASXL1 CSF3R IL1RN IL36RN IRF8 KIT MEFV MVK OTULIN PIK3CD RAC2 RELB SLC35C1 SRSF2 TBK1 TET2 TICAM1 TLR3 TRAF3 UNC93B1 ZNFX1 HP_NEVUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS ACD ACTB AKT1 ALX4 ARL6IP6 ASXL1 ASXL2 BAP1 BAZ1B BCL7B BLOC1S5 BRAF BUD23 CAMK2A CBL CDC42 CDH11 CDH3 CDK10 CDK13 CDK4 CDKN1C CDKN2A CDKN2B CHRNA7 CHRNG CLIP2 COL3A1 COL7A1 CYP1B1 CYP26C1 DDB2 DIS3L2 DNAJC30 DUT DVL1 DVL3 EDEM3 EED EIF4H ELN ERCC2 ERCC3 ERCC4 ERCC5 ERF EZH2 FBN1 FGFR1 FGFR2 FGFR3 FKBP10 FKBP6 FOCAD FRA10AC1 FZD2 GNA11 GNAQ GTF2I GTF2IRD1 GTF2IRD2 H1-4 H19 H4C5 HDAC8 HEATR3 HEPACAM HEXB HPS1 HRAS IFNG IGF2 KANSL1 KCNQ1 KCNQ1OT1 KLLN KRAS KRT14 LBR LEMD3 LIMK1 LTBP2 LZTR1 MAD1L1 MC1R MED25 METTL27 MGMT MITF MLXIPL MPL MRAS MSL3 MYH3 MYOC NCF1 NEK9 NFIX NRAS NSDHL NXN OCA2 PCGF2 PDE11A PDE4D PIK3CA PLP1 POT1 PRKAR1A PTCH1 PTCH2 PTEN PTPN11 PUF60 PUS3 RAD51 RAF1 RASA2 RBM28 RBM8A RFC2 RIT1 ROR2 RRAS RRAS2 SDHB SDHC SDHD SEC23B SETBP1 SLC25A24 SLC26A2 SLC45A2 SMC3 SMO SOS1 SOS2 SPRED2 SPTBN1 STK11 STX1A SUFU SUZ12 TASP1 TBL2 TEK TERF2IP TERT TGFB3 THPO TMEM270 TNFRSF11A TNFRSF11B TP63 TRIM37 TSC1 TSC2 TYR TYRP1 USF3 VPS37D WNT5A XPA XPC HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD ASXL2 CDK10 CDK13 FRA10AC1 LBR MED25 PLP1 RBM8A HP_NEVUS_SEBACEOUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS_SEBACEOUS BRAF HRAS KRAS NRAS SMO HP_NIGHT_SWEATS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NIGHT_SWEATS BCL2 BCL6 GATA2 HLA-DRB1 IFNGR1 JAG1 NAB2 SDHD SLC25A13 STAT6 TH TSPOAP1 UBA1 HP_NOCTURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURIA CLCNKB DBH PLA2G6 POLG POLG2 RRM2B SLC12A3 SLC25A4 TWNK HP_NOCTURNAL_HYPOVENTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_HYPOVENTILATION ACTA1 CFL2 COL12A1 COL6A1 COL6A2 COL6A3 DNAJB4 FKRP HNRNPK KLHL41 LMOD3 MYH7 NEB PHOX2B SELENON SLC52A3 TPM2 TTN HP_NOCTURNAL_SEIZURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_SEIZURES CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 GLRA1 GPHN GRIN2A KCNN2 KCNT1 LGI1 NACC1 NPRL2 NPRL3 RELN SATB1 SPTBN1 HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS ABCA1 ABCG8 APOA1 APOA2 APOB APOE CYP27A1 EPHX2 G6PC1 GHR LDLR LPL PCSK9 PDE11A PDGFRB PPP1R17 PRKAR1A SLC37A4 SPRED1 TTPA HP_NODULAR_GOITER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_GOITER ALMS1 DICER1 FOXE1 HABP2 KEAP1 MAD1L1 MINPP1 MMP14 MMP2 RET SASH1 HP_NONCOMMUNICATING_HYDROCEPHALUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMMUNICATING_HYDROCEPHALUS BICRA FOXJ1 IFNG KDM4B SMARCC1 TSC1 TSC2 HP_NONCOMPACTION_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMPACTION_CARDIOMYOPATHY CRLS1 DNAJC19 DTNA MIB1 MLYCD MYL2 MYOCD MYSM1 NONO RNU4ATAC RYR2 SDHA SDHAF1 SDHB SDHD TPM1 HP_NONIMMUNE_HYDROPS_FETALIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONIMMUNE_HYDROPS_FETALIS ADA2 ALG1 ALPK3 CALCRL CARS2 CCBE1 COL1A1 COL1A2 CRLS1 CTSA EPHB4 FLT4 FOXC2 FOXF1 GATA1 GATB GATC GBA1 GRIP1 HEATR3 LARS2 LBR MCM10 MDFIC MUSK NDUFB10 NR1H4 PIEZO1 PKLR PMM2 PPP3CA QRSL1 RASA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SCN4A SCN5A SLC35D1 SOX18 THSD1 TSR2 UROD UROS HP_NONKETOTIC_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONKETOTIC_HYPOGLYCEMIA ACAD9 ACADVL AKT2 CPT2 FGF20 GFRA1 GREB1L HMGCL ITGA8 MEN1 RET WNT9B YY1 HP_NONPROGRESSIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE ATG5 ATN1 ATP2B3 CHRNE CLDN14 COL4A4 FGF14 GFPT1 HOXB1 ILDR1 KRT12 MARCHF6 PDE10A PMPCA SAMD12 SCN8A STARD7 TRPV4 TUBB6 VLDLR YEATS2 HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA ABCB7 ATCAY ATP2B3 CAMTA1 CWF19L1 DNAJC19 FRMD4A ITPR1 NADK2 POU4F1 HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA ALDOA GPI HBA1 HBA2 HBB HK1 KCNN4 PIEZO1 SLC4A1 HP_NONTUBERCULOUS_MYCOBACTERIAL_PULMONARY_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONTUBERCULOUS_MYCOBACTERIAL_PULMONARY_INFECTION CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 KCNN4 MIF MPEG1 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA ADGRV1 CDKN1A CDKN1B CDKN2B CDKN2C DNM1 GABRD GABRG2 GRIN2A HCN1 MEN1 ODC1 POLG SCN1A SCN1B SCN2A SCN9A STX1B HP_NON_HODGKIN_LYMPHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_HODGKIN_LYMPHOMA ADA ATM BCL10 BIRC3 CASP10 CCND1 CD28 CDKN2A CHEK2 CTLA4 FAS FASLG FCHO1 FOXP1 HAVCR2 IKZF3 ITK MAGT1 MALT1 MDM2 MLH1 MSH6 MYC NBN NFATC2 NTHL1 PIK3R1 PMS2 POLE PRKCD PTPRC RASGRP1 RHOH SH2D1A SMARCAL1 SYK TNFRSF1B TP53 TTC7A XIAP HP_NON_MEDULLARY_THYROID_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MEDULLARY_THYROID_CARCINOMA HABP2 HRAS MINPP1 NKX2-1 NRAS SRGAP1 HP_NON_MENDELIAN_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MENDELIAN_INHERITANCE A2ML1 ABCG8 ADD1 ADH1B ADH1C ADH5 ADRB3 AGRP AGT AGTR1 ALOX5 ALOX5AP APOL1 ATP1B1 BAX BCR BMP4 BRCA1 CARTPT CCL11 CFH COL2A1 CST3 CYP3A5 DNMT3B DYNC2H1 ECE1 ENPP1 F2 F5 FKBP5 FLRT3 FLT3 FRZB GABRA2 GDF3 GDF6 GHRL GJB2 GJB3 GJB6 GNB1 GNB3 HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G HNMT HTR2A HTRA1 IL13 IL6 IRF6 LRIF1 MUC7 NBN NEK1 NLGN4X NLRP1 NOD2 NOS3 NR0B2 NUP214 PAX4 PDCD1 PLA2G7 POMC PPARG PRKCH PTGIS RGS5 SCGB3A2 SCN5A SDC3 SERPINH1 SLCO1B1 SLCO1B3 SLITRK1 SMCHD1 SNRPN STOX1 TAL1 TAL2 TAS2R16 TNF TP53 TPH2 TYMS UCP3 HP_NON_MIDLINE_CLEFT_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_LIP B3GLCT CDH1 CHUK CILK1 CTNND1 DDX59 DHODH DLX4 FGF20 FGFR1 FZD2 GDF11 GFRA1 GJA1 GLI2 GREB1L HOXD13 HYLS1 IRF6 ITGA8 KAT5 KIF7 MED12 MID1 MSX1 NBN NECTIN1 PIGN PTCH1 RAB5IF RET RSPO2 SF3B4 SIX3 SMAD4 SMPD4 SPOP SUMO1 TAPT1 TFAP2A TP63 WNT9B YAP1 HP_NON_MIDLINE_CLEFT_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_PALATE ARHGAP29 ARHGEF38 ASXL1 BMP4 CDH1 CDH11 CHUK COBLL1 CTNND1 DLG1 DLX4 GDF11 GLI2 IRF6 KAT5 MED12 MSX1 NECTIN1 PDGFRA PTCH1 RIC1 RPL26 SIX3 SLC26A2 SPOP SUMO1 TP63 YAP1 HP_NON_MOTOR_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MOTOR_SEIZURE ADGRG1 ADGRV1 ADNP ADPRS AFF3 ALDH4A1 ALDH5A1 ALDH7A1 ALMS1 AP2M1 APC2 ARX ASAH1 ATAD3A ATP1A2 ATP1A3 CACNA1A CACNA1H CACNA2D1 CACNB4 CAMK2A CASK CDK13 CDKL5 CEP85L CHD2 CIC CILK1 CLCN2 CLCN4 CLPB CNTN2 COL3A1 CSTB CUX2 DEPDC5 DHDDS DHFR DMXL2 DNM1 DOCK7 DPM1 DPM3 DYRK1A ECM1 EEF1A2 EFHC1 EHMT1 EPM2A EZH2 FAR1 FBXO28 FRRS1L FZR1 GABRA1 GABRA3 GABRB3 GABRD GABRG2 GAL GATAD2B GDI1 GJA5 GJA8 GLI3 GLUD1 GNAI1 GNAO1 GNB1 GOSR2 GPAA1 GPT2 GRIN1 GRIN2A GRM7 HCN1 HNRNPK HNRNPU JRK KCNA1 KCNB1 KCNC2 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCNT2 KIF4A KPTN LAMA2 LGI1 MAPK10 MAST3 MECP2 MEGF8 MICAL1 MTHFR MTHFS MYT1L NADK2 NBEA NEDD4L NEUROD2 NEXMIF NFKB2 NGLY1 NHLRC1 NPRL2 NPRL3 NSD1 NTRK2 NUBPL NUS1 PACS1 PAFAH1B1 PAK3 PCDH19 PDE2A PGAP1 PGAP2 PHGDH PI4KA PIGA PIGM PIGP PIGQ PIGT PLCB1 PLPBP PNKP PPP2CA PPP3CA PRMT7 PRRT2 PTEN RELN RFX7 RNU4ATAC RORB SATB1 SATB2 SCN1A SCN1B SCN2A SCN8A SCN9A SETD1B SETD2 SIK1 SLC12A5 SLC25A22 SLC2A1 SLC32A1 SLC35A3 SLC38A3 SLC6A1 SMARCA2 SMO SMPD1 SON SPATA5 SPATA5L1 SRPX2 STX1B SYNGAP1 SZT2 TBC1D24 TREX1 TRIM8 TRMT10A TRPM3 TUBA1A TUBB2B TUBB3 UBE3A WAC WDR26 YWHAG ZBTB18 ZEB2 HP_NON_SMALL_CELL_LUNG_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_SMALL_CELL_LUNG_CARCINOMA BAP1 BRAF CASP8 CDKN2A CTNNB1 CYP2A6 EGFR ERBB2 ERCC6 FASLG IRF1 KRAS MAP3K8 NDUFAF6 PIK3CA PPP2R1B PRKAR1A PRKN SLC22A18 SPRED1 TERT TP53 ZNRF3 HP_NORMAL_INTERICTAL_EEG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMAL_INTERICTAL_EEG KCNQ2 KCNQ3 PDE2A PRRT2 SCN2A SCN8A HP_NORMAL_PRESSURE_HYDROCEPHALUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMAL_PRESSURE_HYDROCEPHALUS CFAP43 ERCC6 ERCC8 SCN4A TUBB3 HP_NORMOCHROMIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCHROMIC_ANEMIA ABCD4 ADA2 ALDOA ASXL1 GATA1 HEATR3 HK1 KIT LCAT RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SCARB2 SF3B1 SRSF2 TET2 TPI1 TREX1 TSR2 UQCRFS1 HP_NORMOCYTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCYTIC_ANEMIA ALDOA ASXL1 ATP6AP1 DNAJC21 EFL1 HK1 KIT MTRR MYD88 RPS29 SBDS SF3B1 SRP54 SRSF2 TET2 TOR1A TPI1 TREX1 HP_NO_SOCIAL_INTERACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NO_SOCIAL_INTERACTION ACOX1 EXTL3 GFM2 IQSEC2 SH2B1 TRIM8 HP_NUCHAL_RIGIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCHAL_RIGIDITY ATP1A2 CACNA1A IRF3 PRRT2 SCN1A TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_NUCLEAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCLEAR_CATARACT BFSP1 CFAP410 CHMP4B CRYBA1 CRYBB1 CRYBB2 CRYBB3 CRYGC FTL FYCO1 GALK1 GJA1 GJA5 GJA8 HSF4 IMPG2 MIP MVK NHS NR2E3 PRG4 SLC2A1 VIM WFS1 ZNF408 HP_NUMEROUS_NEVI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_NEVI BRAF CDK4 FGFR3 HEPACAM HRAS KANSL1 NRAS PCGF2 PIK3CA PTEN STK11 HP_NUMEROUS_PIGMENTED_FRECKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_PIGMENTED_FRECKLES AARS1 CARS1 ERCC2 ERCC3 ERCC4 ERCC5 GTF2E2 GTF2H5 MITF MPLKIP RNF113A TARS1 HP_NYCTALOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYCTALOPIA ABCA4 ADAM9 ADGRV1 AGBL1 AGBL5 AHI1 AHR AIPL1 ARHGEF18 ARL2BP ARL3 ARL6 ARSG ATF6 BBS1 BBS2 BBS4 BEST1 C1QTNF5 CA4 CABP4 CACNA1F CACNA2D4 CC2D2A CCDC28B CDH23 CDHR1 CEP78 CERKL CFAP410 CFAP418 CHM CIB2 CLCC1 CLEC3B CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COG4 COL8A2 CRB1 CRX CWC27 CYP4V2 DHDDS DHX38 DPAGT1 DRAM2 ELOVL4 ESPN EXOSC2 EYS FAM161A FGFR2 FLVCR1 FSCN2 GGCX GNAT1 GNB3 GNS GPR179 GRK1 GRM6 GUCA1A GUCA1B GUCY2D HADHA HARS1 HGSNAT HK1 HKDC1 HSD3B7 IDH3A IDH3B IDS IFT140 IFT172 IFT43 IFT88 IMPDH1 IMPG1 IMPG2 INPP5E ITM2B KCNJ13 KCNV2 KIAA1549 KIF3B KIZ KLHL7 LCA5 LRAT LRIT3 MAK MERTK MFN2 MFRP MMP19 MT-TS2 MTTP MVK MYO6 MYO7A NEK2 NMNAT1 NR2E3 NRL NYX OAT OFD1 OPN1LW OPN1MW PCARE PCDH15 PDE6A PDE6B PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PITPNM3 PLA2G5 POC1B POMGNT1 POU3F4 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAB28 RAX2 RBP3 RBP4 RDH11 RDH12 RDH5 REEP6 RGR RHO RIMS1 RLBP1 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SLC24A1 SLC4A11 SLC7A14 SNRNP200 SPATA7 STIM1 TCF4 TIMP3 TLCD3B TOPORS TRAPPC9 TRNT1 TRPM1 TTC8 TTLL5 TTPA TUB TULP1 UNC119 USH1C USH1G USH2A VPS13B WDR19 WHRN YARS1 ZEB1 ZNF408 ZNF513 ZPR1 HP_NYSTAGMUS_INDUCED_HEAD_NODDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYSTAGMUS_INDUCED_HEAD_NODDING BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EIF4H ELN FKBP6 GPR143 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 RFC2 STX1A TBL2 TMEM270 VPS37D HP_OBSESSIVE_COMPULSIVE_TRAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSESSIVE_COMPULSIVE_TRAIT ADGRV1 ASH1L CLN5 DMPK ELN FMO3 FMR1 GABRA1 GABRD GABRG2 GATAD2B HCN1 MAGEL2 MLXIPL NDN OCA2 PANK2 PCDH19 SCN1A SCN1B SCN2A SCN9A SLC45A1 SNRPN STX1B SYNGAP1 TIAM1 TRIO USP7 YWHAG HP_OBSTRUCTIVE_AZOOSPERMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_AZOOSPERMIA ADGRG2 CATIP CCDC34 CFTR CLDN2 CT55 DNAH10 DNHD1 FANCM FBXO43 KLHL10 MEIOB MOV10L1 MSH5 NANOS1 NR5A1 PDHA2 PNLDC1 RNF212 RPL10L SHOC1 SOHLH1 SPAG17 STAG3 SYCE1 SYCP3 TAF4B TDRD9 TERB1 TERB2 TEX11 TEX14 TEX15 XRCC2 ZMYND15 HP_OBSTRUCTIVE_SLEEP_APNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_SLEEP_APNEA AGRN AHDC1 ARCN1 ASXL1 ATN1 BICD2 BMP2 CA2 CACNA1C CACNA2D1 CCDC47 CDC42BPB CHAMP1 CHAT COL13A1 CREBBP CTSK DDB1 DMD DNA2 DPH5 EDN1 EP300 EXOC2 FBXO28 FGFR3 FXR1 GNAI3 GNPTAB GRB10 GRIN1 GUSB H4C5 HRAS IDS IDUA LRPPRC MAGEL2 MCM3AP MOG MYO9A NACC1 NALCN NDN NFIX NGLY1 NONO NOTCH3 OCA2 PCGF2 PIGT PLCB4 POGZ PRKAR1B PRR12 RAB11B RECQL4 SATB2 SH3BP2 SIM1 SKI SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPN SYT2 TERT TNNT1 TRPV4 UNC80 VAMP1 ZMYM2 HP_OCCIPITAL_CORTICAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_CORTICAL_ATROPHY DOCK7 MAGEL2 NDN OCA2 SNRPN HP_OCCIPITAL_ENCEPHALOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_ENCEPHALOCELE ALX4 ARL13B B4GAT1 B9D1 B9D2 C2CD3 CC2D2A CEP290 COL18A1 CSPP1 CYP26B1 FKRP FKTN GMPPB HOXD13 HSPG2 INPP5E KIAA0586 LAMB1 LARGE1 MKS1 MSX2 PAK2 POMGNT1 POMK POMT1 POMT2 RPGRIP1L SF3B2 SMO TCTN2 TCTN3 TMEM107 TMEM218 TMEM231 TMEM67 TMTC3 TXNDC15 HP_OCCIPITAL_MENINGOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MENINGOCELE ARVCF COL18A1 COMT CPLANE1 GP1BB HIRA INPP5E JMJD1C KIAA0586 PTCH1 RREB1 SEC24C SMO TBX1 UFD1 WNT7A HP_OCCIPITAL_MYELOMENINGOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MYELOMENINGOCELE ARVCF COMT GP1BB HIRA INPP5E JMJD1C RREB1 SEC24C TBX1 UFD1 HP_OCULAR_ALBINISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ALBINISM AP3B1 AP3D1 BLOC1S3 BLOC1S5 BLOC1S6 CASZ1 DTNBP1 EPG5 GABRD GPR143 HPS1 HPS4 HPS5 HPS6 HSPG2 KCNAB2 LUZP1 LYST MMP23B PDPN PRDM16 PRKCZ RERE SKI SLC45A2 SOX10 SPEN TYR UBE4B HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS AARS1 ABCA2 ADA2 ADAMTS10 ADAMTSL1 ADAR AGK AKT1 ALDH18A1 ANAPC1 ARPC4 ATAD3A ATOH7 B3GAT3 B3GLCT B9D1 B9D2 BAZ1B BCL7B BCOR BDNF BEST1 BFSP2 BRCA1 BRCA2 BRIP1 BTRC BUD23 CANT1 CARS1 CAV1 CC2D2A CDH2 CENPF CEP290 CHN1 CHST3 CLIP2 COL18A1 COL2A1 COL4A1 COL4A5 COX7B CPAMD8 CPLX1 CRPPA CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CSPP1 CTBP1 CTDP1 CYP1B1 DAG1 DIS3L2 DLST DLX5 DLX6 DNAJC30 DOCK6 DPAGT1 EHMT1 EIF4H ELN ELP4 ENTPD1 EPG5 EPHA2 EPS15L1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ETFA ETFB ETFDH FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FBLN5 FBN1 FBXW11 FBXW4 FGF3 FGFR1 FGFR2 FGFRL1 FH FKBP6 FKRP FKTN FLNA FOXC1 FOXE3 FUT8 FZD4 GATA1 GCNT2 GFAP GFER GLIS3 GNAQ GPC3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H19 HCCS HEATR3 HHAT HMX1 HS2ST1 HSPG2 HYCC1 IARS2 IDH1 IFIH1 IGF1R ITPR1 JAG1 KANSL1 KCNA4 KCTD1 KIF1B KMT2C LAMB2 LARGE1 LDHD LETM1 LIMK1 LMNA LMX1B LONP1 LRP2 LSM11 LSS LTBP2 MAB21L1 MAD2L2 MAF MAFA MAFB MAX MDH2 MED13L MED25 METTL27 MIR184 MIR204 MITF MKS1 MLXIPL MPLKIP MSMO1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NCAPG2 NCF1 NDP NDUFB11 NEU1 NF1 NHS NSD2 NUP188 OCRL PALB2 PAX3 PAX6 PEX11B PEX5 PEX7 PHGDH PIEZO2 PIGY PIK3C2A PIK3R1 PITX2 PITX3 PNPT1 POMGNT1 POMT1 POMT2 PORCN POU6F2 PRDM5 PRR12 PSMC3 PTEN PXDN PYCR1 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RBP4 RECQL4 RERE REST RET RFC2 RFWD3 RIC1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNU7-1 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL4 SAMHD1 SBF2 SDHA SDHAF2 SDHB SDHC SDHD SEC31A SEM1 SH3PXD2B SIL1 SIPA1L3 SIX6 SLC25A11 SLC2A10 SLC33A1 SLC38A8 SLX4 SMC5 SOX10 SRY STIM1 STX1A TARS1 TBC1D20 TBL2 TCTN1 TCTN2 TCTN3 TEK TELO2 TENM3 TKT TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TONSL TP63 TREX1 TRIM28 TRIM44 TRIP13 TSR2 TWIST1 TXNDC15 UBE2A UBE2T VHL VPS37D VPS4A VSX1 WDR37 WDR73 WNT10B WT1 XRCC2 XYLT2 ZEB2 ZNF469 HP_OCULAR_FLUTTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_FLUTTER ATP1A2 ATP1A3 CACNA1A SLC1A3 SLC35A2 SLC6A3 HP_OCULAR_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_PAIN AGBL1 BAP1 CHST6 COL17A1 COL8A2 CTNS CYSLTR2 GNA11 GNAQ GRHL2 OVOL2 SCN9A SF3B1 SLC39A14 SLC4A11 TACSTD2 TCF4 TGFBI VSX1 ZEB1 HP_OCULOGYRIC_CRISIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOGYRIC_CRISIS ACTB ATP13A2 DDC DNAJC12 DNM1L GRIN1 PCBD1 PTS SLC18A2 SLC6A3 SPR TH TSPOAP1 HP_OCULOMOTOR_APRAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_APRAXIA ABCA7 ABCD1 AFG3L2 AHI1 APP APTX ARL13B ARL3 ARMC9 ATP1A2 ATP1A3 ATXN2 B9D1 B9D2 BCR BLTP1 BRAF CACNA1A CACNA1G CBY1 CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CRKL CSPP1 CWF19L1 DLAT DNM1L EXOSC3 FA2H GBA1 GPAA1 GRID2 H4C11 HECTD4 HYLS1 IFT172 IFT74 INPP5E ITPR1 KATNIP KCNH1 KDM1A KIAA0586 KIAA0753 LAMA1 MAPK1 MAPT MAST1 MKS1 MRE11 MYO9A NGLY1 NPHP1 OFD1 PDE6D PEX10 PEX2 PEX6 PGAP2 PGAP3 PIBF1 PIGL PIGO PIGV PIGW PIGY PIK3R5 PMPCA PNKP PNPT1 PSEN1 PSEN2 RORA RPGRIP1L SETX SLC1A3 SLC30A9 SORL1 SOX3 SPR SQSTM1 STUB1 SUFU TCTN1 TCTN2 TCTN3 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOE1 TOGARAM1 TOMM40 TPP1 TREM2 TUBA1A TUBB2B TUBB3 TUBB4A TYROBP UFC1 XRCC1 ZC4H2 HP_OCULOMOTOR_NERVE_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_NERVE_PALSY AIP AKT1 AKT3 ANGPTL6 BAP1 CDH23 CHN1 COL3A1 ENG MAFB MEN1 MTOR MYMK NF2 PDGFB PIK3CA PLEC SALL4 SMARCB1 SMARCE1 SMO SUFU TERT TGFBR3 THSD1 TRAF7 TRPV4 UGT1A1 HP_ODONTOGENIC_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ODONTOGENIC_NEOPLASM APC FGF3 HSPG2 OCRL OFD1 PTCH1 HP_OLIGOARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOARTHRITIS ANKRD55 CD247 HLA-B IL2RA IL2RB IL36RN MEFV PTPN2 PTPN22 STAT4 TNFRSF1A TOM1 HP_OLIGODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODACTYLY APC BHLHA9 BRD4 BTRC CHD7 COL25A1 CYP26B1 DLL4 DLX5 DLX6 DONSON EPS15L1 ESCO2 FBXW4 GLI3 H4C3 HDAC8 HOXD13 KIF21A LRP4 MBTPS2 NIPBL PHOX2A PORCN RAD21 RECQL4 RIPK4 RPL26 SEM1 SF3B4 SMC1A SMC3 SMOC1 TP63 TUBA1A TUBB2B TUBB3 WNT10B WNT7A HP_OLIGODONTIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODONTIA ADNP ANKRD11 ATP6V1B2 AXIN2 BCL11B BCOR CCBE1 CEP152 CHSY1 CLDN1 CUX1 DVL1 DVL3 EDA EDAR EDARADD FGFR1 FLNA FZD2 HNRNPK HUWE1 IKBKG IRF6 KCNJ2 KCNJ5 KIFBP KREMEN1 LRP6 LTBP3 MAF MAP3K7 MSX1 NEPRO PAX9 PIK3C2A PITX2 POLR3A POLR3B POLR3GL PORCN PPP1R15B PTH1R PTHLH RHOA RPS6KA3 SATB2 SCUBE3 SH3BP2 SLC25A24 SMOC2 SRCAP SRD5A3 SUMO1 TGFA TP63 TRIO TRMT10A TSPEAR UBR1 WNT10A WNT10B WNT5A HP_OLIGOHYDRAMNIOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOHYDRAMNIOS ACE ACTG2 AGT AGTR1 ALB ALG8 ALG9 ALX4 AMER1 ASCL1 ATN1 ATP6V1E1 B3GALT6 B9D1 B9D2 BIN1 BMPER BNC2 BRCA1 BRCA2 BRIP1 BUB1B C1QBP CA2 CC2D2A CDC42BPB CDKN1C CEP290 CEP55 CERT1 CHRM3 CLTCL1 COG5 COL25A1 COQ7 COX14 CPT2 CSPP1 DALRD3 DDX6 DEF6 DHPS DOCK6 DONSON DPF2 DSP DYRK1A DZIP1L EBF3 EFEMP2 ERCC4 ERGIC1 EXOSC9 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FARSB FBLN5 FBN1 FGF20 FRA10AC1 FREM2 FXR1 GATA6 GFRA1 GLI3 GMPPB GNB2 GNPTAB GREB1L GRIP1 H19 HBA1 HBA2 HERC2 HMGA2 HNF1B HS2ST1 HSPA9 HYMAI IARS1 IFIH1 IGF2 IL6ST INPPL1 INVS ITGA8 JUP KIF14 LAMB2 LARS2 LHX1 LIFR MAD2L2 MAGEL2 MBTPS2 MKRN3 MKS1 MTO1 MYH11 MYH3 MYL9 MYLK NAA10 NALCN NDUFA6 NDUFB7 NEK8 NEK9 NPAP1 NPHP3 OSGEP PALB2 PAX2 PBX1 PDX1 PGAP2 PGAP3 PHOX2B PIGL PIGO PIGV PIGW PIGY PKHD1 PLAG1 PLAGL1 POR PUF60 PWAR1 PWRN1 RAD51 RAD51C RBM10 REN RET RFWD3 RHAG RHCE RHD RNF2 RNU4ATAC RPGRIP1 RPGRIP1L SATB1 SCYL2 SEC24D SETD1A SFXN4 SLC25A24 SLC35A2 SLX4 SNORD115-1 SNORD116-1 SNRPN SZT2 TALDO1 TBCK TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TPI1 TRIP4 TXNDC15 UBE2A UBE2T UQCC2 VPS33B WDR73 WNT4 WNT9B XRCC2 ZMPSTE24 HP_OLIGOMENORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOMENORRHEA AGPAT2 AIP AKT2 ATRX BRAF BSCL2 CAV1 CAVIN1 CDH23 CIDEC CISD2 ERCC6 FANCM FOS FOXL2 FSHB GALT GNAS H6PD HERC2 LARS2 LHB LIPE MAGEL2 MKRN3 MSH5 NPAP1 NR3C1 PHKA2 PHKB PHKG2 PLIN1 PPARG PRLR PWAR1 PWRN1 RNF216 SNORD115-1 SNORD116-1 STUB1 TP53 TPR USP48 USP8 HP_OLIGOSACCHARIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOSACCHARIDURIA FUCA1 GAA GLB1 MAN2B1 MANBA NEU1 OCRL SNX14 HP_OLIGOZOOSPERMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOZOOSPERMIA ADGRG2 ALMS1 ANTXR1 ARMC2 BLM CATIP CATSPER1 CATSPER2 CCDC34 CEP19 CFAP47 CFAP65 CFAP70 CFAP91 CFTR CNBP DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y DNAH10 DNAH17 DNHD1 DRC1 DZIP1 FBXO43 FKBP6 FSHB IFT74 KCNU1 KLHL10 LHCGR M1AP MEIOB MSH4 NR0B1 NR3C1 NR5A1 PDE11A PDHA2 PMFBP1 POC1A POR PRKAR1A RBMY1A1 RPL10L SEPTIN12 STRC SUN5 SYCP2 TDRD9 TEKT3 TEX15 TSPY1 USP9Y HP_OLIGURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGURIA APRT CAV1 CCN2 CCR6 DZIP1L HLA-DRB1 IRF5 LPIN1 MT-CO1 MT-CO3 OBSCN PAX2 PBX1 PKHD1 RYR1 SLC22A12 SLC25A20 HP_OLIVOPONTOCEREBELLAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_ATROPHY ATXN1 ATXN2 ATXN7 COQ2 ERCC6 MBTPS2 TTC19 HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA ATXN2 FKRP GMPPB MINPP1 PMM2 POMGNT1 POMK POMT1 POMT2 PPP2R1A RTTN TOE1 TSEN54 HP_OMPHALOCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OMPHALOCELE ACTG2 ALG9 AMER1 AR BHLHA9 CD96 CDKN1C CEP120 CHD7 CHUK COL11A1 COL11A2 DACT1 DLK1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 FGFR1 FLNA FLNB FOXF1 FRAS1 FREM1 FREM2 GAD1 GPC3 GPC4 GRIP1 HIC1 HOXD13 HYLS1 IFT80 IFT81 IGF2 ISL1 KCNQ1 KCNQ1OT1 LMOD1 LONP1 LRP2 MAMLD1 MASP1 MBTPS2 MEG3 MID1 MKS1 MMP14 MMP2 MTHFR MYH11 MYLK NEK9 NFIX NUAK2 NXN PAFAH1B1 PI4KA PIGN PORCN PPP1R12A PPP2R3C PTCH1 RAB23 RIPK4 RTL1 SPECC1L THRA TMEM216 TMEM94 TP63 TRRAP TSHB TTC7A TWIST2 VANGL2 WDR35 YWHAE ZIC3 HP_ONION_BULB_FORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONION_BULB_FORMATION AFG3L2 ARHGEF10 COX6A1 DCAF8 DNM2 EGR2 FGD4 FIG4 GBF1 GDAP1 GJB1 GNB4 HYCC1 INF2 KIF1B LITAF LMNA MFN2 MPZ MTRFR NDRG1 NEFL PMP2 PMP22 PRPS1 PRX SACS SBF1 SBF2 SH3TC2 SLC12A6 YARS1 HP_ONYCHOGRYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS ADAM17 COL7A1 CTSC DVL1 DVL3 EGFR FZD2 FZD6 GJB2 GJB6 HPGD IKBKG INSR ITGB4 KLHL24 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KRT83 LMNA LORICRIN PLEC TP63 WDR19 WNT5A ZSWIM6 HP_ONYCHOGRYPOSIS_OF_FINGERNAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_FINGERNAIL COL7A1 DVL1 DVL3 FZD2 KRT16 KRT17 KRT6A KRT6B WNT5A HP_ONYCHOGRYPOSIS_OF_TOENAILS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_TOENAILS COL7A1 KLHL24 KRT16 KRT17 KRT6A KRT6B PLEC HP_ONYCHOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOLYSIS ATR CAST CDSN COL7A1 DSG1 FZD6 GJB6 HLA-C IFIH1 ITGA3 ITGB4 JUP KRT14 KRT5 KRT74 KRT85 LAMA3 UROD WNT10A HP_ONYCHOMYCOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOMYCOSIS ATR CARD9 CARMIL2 CLEC7A CYBC1 DOCK8 HPGD IL12A IL12RB1 IL17RC IRF5 KRT1 MMEL1 NFKB2 PLCG2 POU2AF1 SDR9C7 SPIB STAT1 TNFSF15 TNPO3 TRAF3IP2 HP_OOCYTE_ARREST_AT_METAPHASE_I https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OOCYTE_ARREST_AT_METAPHASE_I PANX1 PATL2 TRIP13 TUBB8 WEE2 HP_OPEN_ANGLE_GLAUCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_ANGLE_GLAUCOMA ASB10 CYP1B1 EFEMP1 FGF10 FGFR2 FGFR3 LMX1B MYOC NTF4 OPTN POLG2 WDR36 HP_OPEN_BITE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_BITE ADAMTS2 AMELX ARSK ATP6V1B2 BAZ1B BCL7B BMP2 BRAF BUD23 CLIP2 CUL4B DNAJC30 DSPP DVL1 DVL3 EIF4H ELN ENAM FAM83H FGFR2 FGFR3 FKBP6 FZD2 GNAI3 GPR68 GTF2I GTF2IRD1 GTF2IRD2 HNRNPH1 HNRNPK ITGB6 KCNH1 KCNMA1 KCNN3 KLK4 LIMK1 METTL27 MLXIPL MMP20 NCF1 NOTCH2 NXN OCRL OFD1 PDE4D POLR1B POLR1C POLR1D PORCN PRKAR1A PTEN RAI1 RELT RFC2 ROR2 RUNX2 SOBP STX1A TBL2 TCOF1 TMEM270 TWIST1 VPS37D WNT5A HP_OPEN_MOUTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_MOUTH ADAM22 AGO2 AHI1 AKT1 ANKLE2 AP1S2 ASH1L ASXL3 ATN1 ATP6V1B2 ATRX BCAS3 BRAF CACNA1I CCDC174 CCDC88A CHAMP1 CHD8 CLTC CSNK2B DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DHX30 DIS3L2 DLK1 DPYD DST ECEL1 EIF2S3 ELN ESS2 EXTL3 FAM149B1 FLII FOXP1 GBA1 GFM2 GRIA3 H3-3A H4C5 HNRNPK HOXB1 HRAS IL1RAPL1 INPP5E IQSEC2 KANSL1 KCNH1 KCNJ6 KCNK9 KIF1A KIF7 LAMA2 MAGEL2 MBD5 MED12 MED12L MED13L MEF2C MEG3 MGAT2 MLXIPL MTOR NEXMIF NFIX NGLY1 NKAP NONO NRAS OCRL OGT PAK3 PARS2 PDE4D PDZD8 PIGF PIGL PIGN PIGT PLXND1 POGZ POLRMT POMT2 PPP2R1A PPP2R5D PRKAR1A PURA PUS7 RAC1 RAI1 REV3L RPS23 RPS6KA3 RTL1 SCN4A SETBP1 SIN3A SLC35A2 SLC6A8 SLC9A6 SNRPN SOX11 SOX5 STRADA TBC1D24 TBX1 TCF20 TCF4 TET3 TFE3 TMEM237 TUBB4A UNC80 VPS13B ZEB2 ZNHIT3 ZSWIM6 HP_OPEN_NEURAL_TUBE_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_NEURAL_TUBE_DEFECT AHI1 AIPL1 ALX1 ALX3 ALX4 ARHGAP31 ARL13B ARL3 ARMC9 ARPC4 B4GAT1 B9D1 B9D2 BMPER C2CD3 CBY1 CC2D2A CCL2 CDON CEP104 CEP120 CEP290 CEP41 CEP55 COL18A1 CPLANE1 CRB1 CRPPA CRX CSPP1 CYP26B1 DACT1 DISP1 DLL1 DLL4 DOCK6 EOGT ESCO2 FGF8 FGFR1 FGFR3 FKRP FKTN FLNA FLNB FLVCR2 FOXH1 FRAS1 FREM2 FUZ GAS1 GDF6 GLI2 GLI3 GMPPB GPKOW GRIP1 GUCY2D H19 HES7 HNRNPK HOXD13 HSPG2 HYLS1 IFT140 IFT74 IGF2 IMPDH1 INPP5E IQCB1 KATNIP KCNJ13 KCNQ1OT1 KIAA0586 KIAA0753 KIF7 LAMB1 LARGE1 LCA5 LRAT MKS1 MSX2 NDE1 NMNAT1 NODAL NOTCH1 NPHP1 NUAK2 OFD1 PAK2 PAX3 PCYT1A PDE6D PHGDH PIBF1 POLR1B POLR1C POLR1D POMGNT1 POMK POMT1 POMT2 PORCN PTCH1 RBPJ RD3 RDH12 RPE65 RPGRIP1 RPGRIP1L SC5D SF3B2 SHH SIN3A SIX3 SMO SNRPB SPATA7 STIL SUFU TBX15 TBXT TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TMTC3 TOGARAM1 TRIM36 TUBB4B TULP1 TXNDC15 USP45 VANGL1 VANGL2 VSX1 WDR81 ZIC2 ZIC3 ZNF423 ZSWIM6 HP_OPEN_OPERCULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_OPERCULUM C2CD3 CNNM2 CSPP1 FH GCDH KIAA0586 HP_OPHTHALMOPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPHTHALMOPARESIS ABCA4 ACADS ACTA1 ACTN2 ADA2 ADPRS AFG3L2 AGBL5 AGRN AHI1 AHR AIP AK9 AKT1 AKT3 ALDH4A1 ANGPTL6 APTX ARHGEF18 ARL2BP ARL3 ARL6 ATG7 ATN1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATXN1 ATXN2 ATXN3 ATXN7 BAP1 BBS1 BBS2 BEST1 BIN1 C1QBP CA4 CACNA1S CC2D2A CDH23 CDHR1 CDKL5 CERKL CFAP418 CHAT CHN1 CHRNA1 CHRNB1 CHRND CHRNE CISD2 CLRN1 CNGA1 CNGB1 COL13A1 COL25A1 COL3A1 COLQ COX16 CRB1 CRX DGUOK DHDDS DHX37 DHX38 DNA2 DNM1L DNM2 DOK7 EARS2 ENG EYS FA2H FAM161A FRG1 FSCN2 GABBR2 GABRA3 GBA1 GFPT1 GIPC1 GRIN1 GUCA1B HACD1 HGSNAT HLA-B HLA-DRB1 HPDL HRAS IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 ISCU ITGA7 KCND3 KCNJ18 KIAA1549 KIF21A KIZ KLHL40 KLHL41 KLHL7 KRAS LAMA2 LAMB2 LIG3 LMOD3 LRAT LRP12 LRP4 LYRM7 MAFB MAK MAP3K20 MAPT MCM3AP MECP2 MEN1 MERTK MFF MGME1 MICU1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TV MT-TW MTM1 MTMR14 MTOR MTRFR MTTP MUSK MYF5 MYF6 MYH2 MYL2 MYMK MYO9A NADK2 NAXD NDUFAF2 NDUFS1 NDUFV1 NEB NEK2 NF2 NOTCH2NLC NR2E3 NRAS NRL NSUN3 NTNG1 NUTM2B-AS1 OFD1 OPA1 P4HA2 PABPN1 PCARE PCYT1A PDE6A PDE6B PDE6G PDGFB PHOX2A PIEZO2 PIK3CA PLEC PLXND1 PMPCA POLG POLG2 POLRMT POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTPN22 RAPSN RBP3 RDH12 REEP6 REV3L RGR RHO RILPL1 RLBP1 RNASEH1 ROBO3 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRM2B RYR1 SAG SALL4 SBF1 SCAPER SCN4A SDHA SDHAF1 SDHB SDHD SELENON SEMA4A SLC18A3 SLC19A3 SLC25A1 SLC25A4 SLC52A3 SLC5A7 SLC7A14 SLC9A6 SMARCB1 SMARCE1 SMC1A SMO SNAP25 SNRNP200 SPATA7 SPEG STIM1 STUB1 SUCLA2 SUFU SURF1 SYNE1 SYT2 TCIRG1 TERT TGFBR3 TGM6 THSD1 TK2 TMEM67 TOP3A TOPORS TPK1 TPM2 TPM3 TRAF7 TRPV4 TSPYL1 TTC8 TTN TUB TUBA1A TUBB2B TUBB3 TULP1 TWNK TYMP UCHL1 UGT1A1 USH2A VAMP1 VARS2 WFS1 ZFHX4 ZNF408 ZNF513 HP_OPISTHOTONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPISTHOTONUS AASS ADSL ALG11 ALS2 ASPA CARS2 CLPB CRLF1 CYB5R3 DNM1 DTYMK EXTL3 FUS GALC GBA1 GCDH GLYCTK GRIK2 GRIN1 HPRT1 KCNC2 KCNJ6 MCCC1 MCCC2 MOCS1 MOCS2 NDE1 NDUFA8 NFU1 OPA1 PAFAH1B1 PANK2 POU3F3 PSAP PTS SETBP1 SIGMAR1 SLC19A3 SLC39A14 SPG11 SPTLC1 TNR TOE1 TSEN2 TSEN54 TUFM UFC1 UGDH VPS50 VPS53 HP_OPPORTUNISTIC_BACTERIAL_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_BACTERIAL_INFECTION CEACAM3 CEACAM6 CFTR CLCA4 CYBB DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 IGHG2 IGKC IKBKG IL12RB1 KCNN4 MIF MPEG1 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 ZNF341 ZNFX1 HP_OPPORTUNISTIC_FUNGAL_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_FUNGAL_INFECTION C1QB CARD11 CD40LG IKBKG IL12RB1 IL17RC IL21R PIK3CD STAT1 TGFB1 TLR8 ZBTB24 HP_OPPORTUNISTIC_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_INFECTION ADA C1QB CARD11 CD40LG CEACAM3 CEACAM6 CFTR CLCA4 CYBB DCLRE1C DCTN4 EDNRA ELANE GCLC GSTM3 HFE HMOX1 IGHG2 IGKC IKBKG IL12RB1 IL17RC IL21R IL2RG IL7R JAK3 KCNN4 MBL2 MIF MPEG1 NHP2 PIK3CD PNP RAG1 RAG2 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STAT1 STX1A TGFB1 TLR8 ZAP70 ZBTB24 ZNF341 ZNFX1 HP_OPSOCLONUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPSOCLONUS CLCN7 FRMD5 GBA1 KIF1B SNX10 TCIRG1 TMEM240 TNFSF11 HP_OPTIC_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_ATROPHY AAAS AARS1 ABCA4 ABHD12 ACADS ACO2 ACOX1 ACTL6B ADA2 ADAM22 ADAR AFF4 AFG3L2 AGBL5 AGTPBP1 AGXT AHI1 AHR AKT3 ALG13 ALG3 ALG8 AMPD2 ANTXR1 AP1S2 AP3B2 ARHGEF18 ARL2BP ARL3 ARL6 ARSA ARV1 ARVCF ARX ASPA ASXL1 ATAD3A ATG7 ATIC ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1B2 ATPAF1 ATPAF2 ATRX ATXN1 ATXN7 AUH B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BBS1 BBS2 BCAP31 BEST1 BOLA3 BRAF BRAT1 BTD C19orf12 CA2 CA4 CACNA1A CACNA1B CACNA2D1 CASK CASR CASZ1 CBS CC2D2A CCDC22 CCDC88A CDC42 CDHR1 CDK19 CELF2 CEP290 CERKL CFAP410 CFAP418 CHD7 CHSY1 CISD2 CKAP2L CLCN3 CLCN7 CLN3 CLP1 CLRN1 CLTC CNGA1 CNGB1 CNKSR2 CNNM4 CNOT3 COA8 COG6 COL4A1 COMT CPLX1 CPSF3 CRB1 CRPPA CRX CSF1R CSPP1 CTBP1 CTC1 CTNNA2 CTNNB1 CYFIP2 CYP27A1 CYP7B1 DAG1 DALRD3 DARS2 DDB2 DENND5A DGUOK DHCR7 DHDDS DHX38 DIAPH1 DKC1 DNAJC19 DNAJC30 DNM1 DNM1L DNMT1 DOCK6 DPAGT1 DPM1 DPM2 DPYD DPYSL5 EEF1A2 EIF2B1 EIF2B2 EIF2B4 ELP1 ELP4 EMC1 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF EXOSC3 EXOSC5 EXOSC8 EXOSC9 EYS FA2H FAM161A FBXO28 FCSK FDX2 FDXR FGF12 FGF13 FGFR2 FGFR3 FH FKRP FKTN FLRT1 FLVCR1 FOXRED1 FRMPD4 FSCN2 FXN FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GEMIN4 GJA1 GJC2 GLA GLB1 GLRX5 GMPPA GMPPB GNA11 GNAQ GP1BB GPAA1 GRIN2D GRN GTPBP2 GUCA1B HCN1 HGSNAT HIKESHI HIRA HK1 HLA-B HLA-DRB1 HSD17B10 HSPG2 HUWE1 IBA57 IDH3A IDH3B IDS IER3IP1 IFT140 IFT172 IFT88 IKBKG IMPDH1 IMPG1 IMPG2 INPP5K INTS8 ISCA2 JMJD1C KANSL1 KAT6A KCNA2 KCNAB2 KCNB1 KCNC3 KCTD7 KIAA1549 KIF11 KIF1A KIF7 KIZ KLC2 KLHL7 KNSTRN KRAS L2HGDH LAMB1 LARGE1 LETM1 LRAT LRP4 LRP5 LUZP1 MAG MAK MAP2K1 MAP2K2 MCOLN1 MECR MERTK MFF MFN2 MFSD8 MGP MICOS13 MICU1 MID2 MINPP1 MKS1 MMACHC MMP23B MMUT MOGS MPDU1 MPDZ MPLKIP MRPS34 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-RNR1 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTO1 MTOR MTPAP MTRFR MTSS2 MYO5A NADK2 NAGA NALCN NARS2 NBAS NDP NDUFA11 NDUFA13 NDUFA6 NDUFAF2 NDUFAF4 NDUFAF5 NDUFAF8 NDUFS1 NDUFS2 NDUFV2 NECAP1 NEK2 NELFA NEU1 NFIX NGLY1 NIPBL NLRP3 NMNAT1 NOTCH2NLC NR2E3 NR2F1 NRCAM NRL NSD2 NT5C2 NTRK2 NUP54 NUP62 NUS1 OFD1 OGDHL OPA1 OPA3 OSTM1 P4HA2 P4HTM PACS2 PANK2 PARS2 PAX6 PCARE PCK1 PCLO PCYT2 PDE6A PDE6B PDE6G PDHX PDPN PDSS1 PDXK PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIEZO2 PIGG PIGU PIK3CA PIK3CD PLA2G6 PLAA PLEKHM1 PLK4 PLP1 PMPCB PNPLA6 POGZ POLG POLG2 POLR3A POLR3B POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 PPP1R21 PPP3CA PPT1 PRCD PRDM16 PRICKLE3 PRKAR1A PRKCZ PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRUNE1 PSAP PTCD3 PTPN22 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RBL2 RBM10 RBP3 RDH12 RECQL4 REEP6 RERE RFC1 RGR RHO RHOA RLBP1 RNF170 RNF216 RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPS6KA3 RREB1 RRM2B RSPO2 RXYLT1 SAG SARDH SBF2 SCAPER SCN3A SCN8A SCYL1 SCYL2 SDHA SEC23A SEC24C SEC31A SELENOI SEMA3E SEMA4A SERAC1 SH3BP2 SH3TC2 SIL1 SKI SLC13A5 SLC19A2 SLC1A2 SLC25A19 SLC25A46 SLC29A3 SLC30A9 SLC38A3 SLC39A14 SLC44A1 SLC52A2 SLC6A9 SLC7A14 SMOC1 SNAP29 SNRNP200 SNX10 SON SOST SOX5 SP7 SPATA7 SPEN SPG7 SRD5A3 SSBP1 ST3GAL5 STAMBP STT3B SUMF1 SURF1 SYNE1 SYNGAP1 SYNJ1 SZT2 TACO1 TANGO2 TBC1D20 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBX1 TCIRG1 TCTN1 TCTN2 TCTN3 TFG TGFB1 THG1L TIMM50 TIMM8A TK2 TMEM107 TMEM126A TMEM216 TMEM222 TMEM231 TMEM237 TMEM53 TMEM63A TMEM67 TMTC3 TNFRSF11A TNFRSF11B TNFSF11 TOE1 TOPORS TRAF7 TRAK1 TRAPPC11 TRAPPC12 TSC1 TSC2 TSEN54 TSFM TTC8 TUB TUBB4A TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWNK TXN2 TXNDC15 UBA5 UBE3B UBE4B UCHL1 UFD1 USH2A VCAN VPS11 VPS13B VPS33A VPS35L VPS53 VRK1 WARS2 WASHC5 WDR4 WDR45 WDR73 WFS1 WNT3 WWOX XPA XPC YAP1 YME1L1 YWHAG ZEB2 ZNF408 ZNF513 ZNF592 ZNHIT3 ZPR1 HP_OPTIC_DISC_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_COLOBOMA ACTB ACTG1 BCOR C2CD3 CC2D2A DDX11 DDX59 EPCAM HHAT IGBP1 INPP5E KMT2D NAA10 NIPBL PAX2 PAX6 PERCC1 PRMT7 RPGRIP1L SALL2 SALL4 SMO SPINT2 TMEM216 TMEM67 TRRAP HP_OPTIC_DISC_DRUSEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_DRUSEN ABCC6 GUCY2D IFT172 LCA5 LRAT MFRP PRPF8 RPE65 SPATA7 TMEM98 XYLT1 XYLT2 HP_OPTIC_DISC_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_HYPOPLASIA APC ARSL CHN1 DDHD2 EXOC2 FANCB GDF3 GDF6 HESX1 HNRNPU MAFB NFIX NR2F1 PLXNA1 POLR3A SALL4 SNAP29 SRD5A3 TRIT1 HP_OPTIC_DISC_PALLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_PALLOR ABCA4 ACER3 ACO2 AFG3L2 AIFM1 AIPL1 ALMS1 AP3B2 AP4M1 ARHGEF18 ARHGEF2 ARL13B ARL2BP ATXN1 B3GALT6 BBS2 BEST1 BLOC1S3 C1QTNF5 CACNA1F CASK CERKL CFAP418 CLCC1 CLCN7 CLDN11 CLN8 CNGA1 CNGA3 CNNM4 COL18A1 COL4A1 COX7B CRB1 CYP1B1 CYP27A1 DARS1 DNM1L DPAGT1 DYRK1A EFEMP1 ELOVL1 ERCC6 ERCC8 ESPN EXOC8 EYS FAM161A FGF12 FLRT1 FOXRED1 GFM2 GNAT1 GRID2 HARS1 HGSNAT HK1 HLA-A HNRNPH1 IDH3B IFT172 IFT43 IMPDH1 IMPG2 INPP5E ITM2B JAM3 KCNC3 KCNJ13 KIAA1549 KIF5A KLC2 KLHL7 LCA5 LRAT LYRM7 MAG MAK MAN2B1 MAPKAPK5 MECR MERTK MFF MFN2 MFRP MFSD8 MKS1 MMP19 MSTO1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MTFMT MVK MYOC NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEDD4L NFIX NGLY1 NMNAT1 NR2F1 NUBPL NUS1 OPA1 OPA3 OSTM1 PANK2 PARS2 PCLO PDE6A PDE6G PDXK PEX1 PIGB PISD PLK4 POC1B POMGNT1 PRCD PROM1 PRORP PRPF31 PRPF4 PRPF6 PRPS1 RAX2 RBP3 RDH12 RIMS2 RP1 RP1L1 RPE65 RRM2B RTN4IP1 RTTN SCAPER SDHD SMG8 SNRNP200 SPATA7 SPG7 STX3 TASP1 TIMMDC1 TMEM106B TMEM126A TMEM126B TMEM67 TOR1A TPI1 TRNT1 TUB TUBB4B TUBGCP6 TULP1 UBE3B USP45 VPS41 VSX1 WFS1 ZNF408 ZNF513 HP_OPTIC_NERVE_COMPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_COMPRESSION ATRX BRAF CA2 CDH23 CLCN7 NR3C1 SNX10 TCIRG1 TGFB1 TMEM53 TNFRSF11A TNFSF11 TP53 USP48 USP8 HP_OPTIC_NERVE_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_DYSPLASIA B4GAT1 BRAF CPAMD8 KIDINS220 PAX2 PEX2 PEX5 HP_OPTIC_NERVE_GLIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_GLIOMA IFNG NF1 SPRED1 TSC1 TSC2 HP_OPTIC_NERVE_MISROUTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_MISROUTING MC1R OCA2 SLC38A8 SLC45A2 TYRP1 HP_OPTIC_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NEUROPATHY ABCG5 ABCG8 AGXT APOB ATN1 BTD CISD2 CLCN2 CYP1B1 CYP27A1 EFEMP1 FOXRED1 GP1BA HLA-DRB1 LDLR LDLRAP1 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTRFR MYOC NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NOTCH3 NUBPL PCSK9 SH3BP2 TIMMDC1 TMEM126B TMEM53 TSFM TXN2 WDR11 HP_ORAL_AVERSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_AVERSION ACAT1 ARID1A ARID1B ARID2 DPF2 GRB10 MEIS2 PACS1 SLC7A7 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 HP_ORAL_CAVITY_BLEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_CAVITY_BLEEDING BCOR F10 F13A1 F13B F2 F5 F8 FIP1L1 IRF2BP2 KIF23 NABP1 NPM1 NUMA1 PML PRKAR1A RACGAP1 RARA STAT3 STAT5B TBL1XR1 ZBTB16 HP_ORAL_LEUKOPLAKIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_LEUKOPLAKIA ACD CAST CTC1 DCLRE1B DKC1 FERMT1 GJB2 KRT16 KRT17 KRT4 KRT6A KRT6B KRT6C MEFV NHP2 NOP10 NPM1 PARN RHBDF2 RPA1 RTEL1 TERC TERT TINF2 TP53 TYMS USB1 WRAP53 HP_ORAL_MUCOSAL_BLISTERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_MUCOSAL_BLISTERS COL17A1 COL7A1 DSG3 ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 MMP1 PLEC HP_ORAL_PHARYNGEAL_DYSPHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_PHARYNGEAL_DYSPHAGIA ADCY6 ADNP ARHGAP29 ARHGEF38 ASPA ATP1A2 ATP1A3 BMP4 CACNA1A CDH1 CNTNAP1 COBLL1 CTNS DLG1 DLX4 EXOSC9 FLCN GIPC1 GRHL3 GRIN1 HTT IRF6 LRP12 MSX1 MTRFR NECTIN1 NGLY1 NOTCH2NLC PDGFRA RAI1 RIC1 RILPL1 SCUBE3 SEPSECS SLC1A3 SLC2A3 TAF1 TANGO2 TP63 TSEN15 TSEN2 TSEN34 TSEN54 UBB YY1 ZNF699 HP_ORAL_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_ULCER ADA2 BANK1 BLK C1QB C4A C4B CAT CCR1 CD27 CD40LG CLPB CR2 CTLA4 CYBC1 DCLRE1C DNAJC21 DNASE1 EFL1 ELANE ELF4 ERAP1 ETS1 FAS FCGR2B FCGR3B G6PC3 GFI1 HLA-B HLA-DRB1 IFNGR1 IGHG1 IL10 IL10RA IL12A IL12A-AS1 IL23R IL7R IRAK1 IRF5 ITGAM JAZF1 KIAA0319L KLRC4 MECP2 MEFV MVK NOD2 PDCD1 PTPN22 PXK RELA RIPK1 SAT1 SBDS SLC37A4 SLC46A1 SPP1 SRP19 SRP54 STAT4 SYK TCIRG1 TLR4 TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBAC2 UBE2L3 HP_ORCHITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORCHITIS C4A CCR1 ERAP1 FAS HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV STAT4 TLR4 TNFRSF1A UBAC2 HP_ORGANIC_ACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORGANIC_ACIDURIA ABCD4 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACSF3 AGXT ALAD ALDH5A1 ALDH6A1 BTD CA5A CD320 COX16 CPOX CPT1A CPT2 D2HGDH DHTKD1 ETFA ETFB ETFDH ETHE1 FH FLAD1 FOCAD FTCD GATA1 GATM GCDH GRHPR HADH HCFC1 HGD HLCS HMBS HMGCL HOGA1 HPD HSPD1 IDH1 IDH2 KIF1B L2HGDH LETM1 LMBRD1 MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MMUT MPC1 MTR MTRR MVK NADK2 NDUFB10 NDUFS4 NFU1 OXCT1 OXGR1 PAH PCCA PCCB PEX1 PEX14 PGM2L1 POLG POLRMT PPOX PRDX1 RET SCO1 SFXN4 SLC13A3 SLC18A2 SLC22A5 SLC25A1 SLC25A19 SLC25A20 SLC25A4 SLC26A1 SLC52A1 SLC52A2 SUCLA2 SUCLG1 SUGCT TAT TCN2 TFAM TRMU UROC1 UROS HP_OROFACIAL_CLEFT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROFACIAL_CLEFT ACBD5 ACTB ACTG1 ACTG2 ADA2 AHI1 ALX1 ALX3 ALX4 AMER1 AMMECR1 ANKRD11 ANKRD17 ANOS1 AR ARCN1 ARHGAP29 ARHGAP31 ARHGEF38 ARID1A ARID1B ARID2 ARL13B ARL3 ARL6IP6 ARMC9 ARNT2 ARVCF ARX ASXL1 ATN1 ATP6V1B2 ATP6V1E1 ATR AXIN2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BCOR BCR BICRA BMP4 BMPER BPNT2 BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 C2CD3 CARS1 CASK CBY1 CC2D2A CCDC141 CCDC22 CCDC32 CD96 CDC45 CDC6 CDH1 CDH11 CDKL5 CDKN1C CDON CDT1 CENPF CEP104 CEP120 CEP152 CEP290 CEP41 CEP57 CHD7 CHN1 CHRNA1 CHRND CHRNG CHST14 CHST3 CHSY1 CHUK CILK1 COBLL1 COG1 COL11A1 COL11A2 COL2A1 COL4A1 COL9A1 COL9A2 COL9A3 COLEC10 COLEC11 COMT COX7B CPLANE1 CPLX1 CREBBP CRKL CRPPA CSPP1 CTBP1 CTCF CTNND1 CUL3 CYP26C1 DAG1 DCC DDX3X DDX59 DEAF1 DEF6 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHODH DISP1 DLG1 DLK1 DLL1 DLL3 DLX4 DLX5 DMXL2 DOK7 DONSON DPH1 DPH2 DPYSL5 DSE DSP DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EARS2 EBP ECEL1 EDA EDARADD EDEM3 EDN1 EDNRA EFNB1 EFTUD2 EIF2S3 EIF4A3 EIF5A EMG1 EP300 EPCAM EPG5 ERCC4 ERCC5 ESCO2 ESS2 EVC EVC2 EYA1 FAM149B1 FAM20C FAM50A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO11 FEZF1 FGD1 FGF10 FGF17 FGF20 FGF8 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FKBP14 FKRP FKTN FLII FLNA FLNB FLRT3 FLVCR2 FOXA2 FOXC2 FOXE1 FOXF1 FOXH1 FOXP2 FRAS1 FREM2 FTO FUZ FZD2 G6PC3 GABRA3 GAD1 GAS1 GATA1 GATA3 GATA6 GDF11 GDF3 GDF6 GFRA1 GJA1 GJB2 GLI2 GLI3 GMNN GMPPB GNA11 GNAI3 GNAO1 GNB1 GNB2 GNPAT GNRH1 GNRHR GP1BB GPC3 GPC4 GREB1L GRHL3 GRIN1 GRIP1 GRM7 H4C3 H4C5 HAAO HCCS HDAC8 HEATR3 HES7 HESX1 HIRA HMGA2 HNRNPK HOXA2 HOXD13 HS2ST1 HS6ST1 HSPG2 HYAL1 HYLS1 IFT172 IFT57 IFT74 IFT80 IGBP1 IGF2 IKBKG IL17RD IL6ST INPP5E INPPL1 INTS1 INTU IPO8 IQSEC2 IRF6 ITGA8 JARID2 JMJD1C JUP KANSL1 KAT5 KAT6A KAT6B KATNIP KCNA1 KCNH1 KCNJ2 KCNK9 KCNMA1 KCNN3 KDF1 KDM6A KIAA0586 KIAA0753 KIF15 KIF21A KIF7 KIFBP KISS1 KISS1R KLHL41 KMT2D KRAS LARGE1 LARS2 LBR LEMD3 LETM1 LFNG LHX4 LIG4 LMBRD1 LMNA LMX1B LRP6 LRRC32 MAD2L2 MAF MAFB MAMLD1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MASP1 MBTPS2 MCTP2 MECOM MED12 MED25 MEG3 MEGF10 MEIS2 MEOX1 MESP2 MID1 MKKS MKS1 MSX1 MSX2 MT-CYB MTHFR MUSK MYH3 MYL11 MYMK MYMX MYOD1 NAA10 NAE1 NBN NDNF NDUFB11 NEB NECTIN1 NEDD4L NEK1 NELFA NEUROD2 NFASC NFIX NHLH2 NIPBL NKX2-5 NKX2-6 NODAL NONO NOTCH2 NOTCH3 NPHP1 NSD2 NSDHL NSMF NSUN2 NUAK2 NUP107 NUP188 NUP88 NXN OCLN OFD1 ORC1 ORC4 ORC6 OTX2 PALB2 PAX3 PAX9 PDE6D PDGFRA PDZD8 PERCC1 PEX2 PEX5 PEX7 PGAP2 PGAP3 PGM1 PHF6 PHF8 PHGDH PIBF1 PIEZO2 PIGG PIGL PIGN PIGO PIGP PIGQ PIGV PITX1 PLAG1 PLCB4 PLCH1 PLXND1 PNKP POGZ POLR1A POLR1B POLR1C POLR1D POLR2A POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU1F1 PPP2R5D PPP3CA PQBP1 PRDM5 PRKAR1B PROK2 PROKR2 PROP1 PRR12 PRRX1 PSAT1 PTCH1 PTDSS1 PTPN11 PUF60 RAB5IF RAD21 RAD51 RAD51C RAI1 RAPSN RARB RB1 RBM10 RBM8A RECQL4 RERE RET REV3L RFWD3 RIC1 RIPK4 RIPPLY2 RNU12 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPO2 RTL1 RUNX2 RXYLT1 SALL4 SATB2 SCARF2 SCN1B SCN2A SCNM1 SCUBE3 SEC23A SEC24C SELENOI SEMA3A SEMA3E SEPTIN9 SET SETD5 SF3B2 SF3B4 SH2B1 SHH SIAH1 SIK1 SIX1 SIX3 SIX5 SLC10A7 SLC18A3 SLC25A19 SLC25A22 SLC26A2 SLC29A3 SLC2A10 SLC32A1 SLC35B2 SLC35D1 SLX4 SMAD3 SMAD4 SMARCA4 SMARCB1 SMARCD1 SMC1A SMC3 SMCHD1 SMG9 SMO SMOC1 SMPD4 SMS SNRPB SNRPN SON SOX10 SOX2 SOX3 SOX6 SOX9 SPECC1L SPINT2 SPOP SPRY4 STAC3 STAG1 STAG2 STAMBP STAT3 STIL SUCLG1 SUFU SUMO1 TAC3 TACR3 TAPT1 TBC1D24 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TBX6 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TELO2 TFAP2A TFE3 TGDS TGFA TGFB3 TGFBR1 TGFBR2 TGIF1 TMCO1 TMEM107 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TP63 TRAPPC2 TRAPPC9 TRIM8 TRIP13 TRPV4 TRRAP TSR2 TUBA1A TUBB TWIST1 TXNDC15 TXNL4A UBB UBE2T UFD1 USP9X VANGL1 VANGL2 VAX1 VPS35L WASHC5 WBP11 WDPCP WDR11 WDR26 WDR35 WLS WNT10A WNT10B WNT3 WNT4 WNT5A WNT7A WNT9B XRCC2 XYLT1 YAP1 ZC4H2 ZEB2 ZIC2 ZMPSTE24 ZNF469 ZPR1 ZSWIM6 HP_OROFACIAL_DYSKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROFACIAL_DYSKINESIA AARS1 ADCY5 ATXN7 CACNA2D1 CHMP2B COQ2 CYP27A1 EXOSC5 FGF14 FTL GBA2 GNAO1 IREB2 JAM2 LRPPRC MICU1 MRE11 PANK2 PDE10A PLP1 PNPT1 PRKRA PRRT2 SLC18A2 SLC35A1 SLC6A3 VPS13A HP_OROMANDIBULAR_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMANDIBULAR_DYSTONIA ALS2 ANO3 ATN1 C19orf12 COASY COL6A3 FUS KMT2B PANK2 SIGMAR1 SLC39A14 SLC6A3 SPG11 SPTLC1 THAP1 TIMM8A TOR1A VPS13A VPS16 HP_OROMOTOR_APRAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMOTOR_APRAXIA ADGRG1 CDON CLTC DDOST DISP1 DLL1 FGF8 FGFR1 FOXH1 FOXP1 FOXP2 GAS1 GLI2 NODAL PI4KA PLCH1 PTCH1 SHH SIX3 SMC1A SRPX2 STAG2 STIL TDGF1 TGIF1 TUBB2B VPS11 ZIC2 HP_OROPHARYNGEAL_SQUAMOUS_CELL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROPHARYNGEAL_SQUAMOUS_CELL_CARCINOMA ATR BRD4 CDKN2A DKC1 NUTM1 STAT1 TOM1 HP_OROTICACIDURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROTICACIDURIA ARG1 ASL ASS1 ATP5F1A CAD OTC SLC25A15 SLC7A7 UMPS HP_ORTHOKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOSIS AAGAB CARD14 CERS3 CLDN1 COL14A1 CSTA CYP4F22 DSG1 ENPP1 FLG2 GJA1 KDF1 KRT1 KRT10 LIPN LORICRIN NIPAL4 NSDHL TRPV3 WNT10A HP_ORTHOKERATOTIC_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOTIC_HYPERKERATOSIS CFTR DSG1 KRT10 PNPLA1 RSPO1 SERPINB7 SULT2B1 HP_ORTHOPNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOPNEA ACTC1 AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE CITED2 COL13A1 CRYAB DOK7 FLNC GATA4 GATA6 KIF20A LRP4 MUSK MYH6 MYOZ2 MYPN NKX2-5 RAPSN SCN4A TBX20 TLL1 TNNI3 TNNT2 TTN HP_ORTHOSTATIC_HYPOTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION AAAS ARSA ATP7A CAV1 CHCHD2 CHRNA3 COL1A1 COL5A1 COL5A2 COQ2 CYB561 CYP11B2 DBH DNAJC13 EIF4G1 ELP1 GBA1 GBE1 GIGYF2 GMPPA GSN HEXB IL12A IL12RB1 IRF5 LEP LEPR LMNB1 LRRK2 MMEL1 NTRK1 POU2AF1 PSAP SIM1 SNCA SPG11 SPIB TNFSF15 TNPO3 TTR VPS35 HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION ARSA COQ2 DNAJC13 EIF4G1 GBA1 GIGYF2 GSN LEP LEPR LMNB1 LRRK2 NTRK1 PSAP SNCA TTR VPS35 HP_OSTEOARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS ACAN AEBP1 AIP ANKH ANKRD55 ASPN ATP7B CANT1 CCN6 CD247 CLCN7 COL11A1 COL11A2 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COMP DDRGK1 EMILIN1 F8 F9 FBN1 FGFR3 FRZB GBA1 GDF5 GHR GNAS GPR101 HGD HLA-B HPGD IL2RA IL2RB KIF22 LMNA MATN3 MEFV MIR140 MMP13 NGF PHEX PRG4 PTPN2 PTPN22 SCARB2 SLC26A2 SLC40A1 SMAD2 SMAD3 STAT4 STT3A TGFB3 TNFRSF11B TRAPPC2 TRPS1 TRPV4 UFSP2 ZMPSTE24 ZNF687 HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND ASPN MATN3 SMAD3 TRAPPC2 TRPV4 HP_OSTEOCHONDRITIS_DISSECANS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDRITIS_DISSECANS ACAN COL9A2 LMX1B MMP13 ORC1 SMAD3 HP_OSTEOCHONDROMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROMA COL2A1 EXT1 EXT2 FGFR3 GLI3 NFATC2 SOX6 HP_OSTEOCHONDROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROSIS ACAN ACTB ACTG1 COL9A2 DYRK1A FGFR1 KRAS LMX1B MMP13 ORC1 SMAD3 HP_OSTEOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS ANTXR2 APC ASAH1 ASXL1 ATL3 ATP7A BANF1 BUB1 BUB1B BUB3 CAV1 CBL CCN2 CCR6 CDKN1A CDKN1B CDKN2B CDKN2C CEP57 CHEK2 COL3A1 CTNNB1 CTSC CTSK DDR2 ELMO2 ELP1 FGFR1 FLNA GATA1 GBA1 GJB2 HLA-DRB1 HNRNPA1 HNRNPA2B1 HPGD IDH1 IDH2 IFIH1 IKBKG IL1RN IRF5 KIF1A KRAS LMNA MAFB MAN2B1 MBTPS2 MEN1 MMP14 MMP2 MTX2 NF1 NOTCH2 NOTCH3 PDGFRB PERP PIGL PTH1R RB1 RETREG1 RIGI RUNX1 SCARB2 SCN9A SH3PXD2B SLC29A3 SLCO2A1 SQSTM1 SRSF2 TET2 TNFRSF11A TP53 TRIP13 TRPV3 UROD UROS VCP VDR WNK1 ZBTB20 ZMPSTE24 HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS ASAH1 COL3A1 FLNA KIF1A LMNA MAFB MMP14 MMP2 NOTCH2 RETREG1 SCN9A WNK1 ZMPSTE24 HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS ASAH1 ATL3 BANF1 COL3A1 CTSC CTSK DDR2 FLNA HPGD IFIH1 KIF1A LMNA MAFB MMP14 MMP2 MTX2 NOTCH2 PDGFRB RETREG1 RIGI SCN9A WNK1 ZMPSTE24 HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND BANF1 CTSK LMNA PDGFRB ZMPSTE24 HP_OSTEOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMALACIA ABCC6 ADAMTS2 ADAMTSL2 ALPL ANTXR2 AP2S1 ATP7A ATP7B CLCN5 CYP27B1 CYP2R1 DMP1 EHHADH ENPP1 FGF23 GATM GNAS NDUFAF6 OCRL PHEX RNU4ATAC SLC2A2 SLC34A1 SLC34A3 SLC4A1 SYK VDR HP_OSTEOMYELITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMYELITIS ANO5 ATL1 ATL3 ATP7A BLNK BTK C2orf69 CCT5 CD79A CD79B CLCN7 CLTCL1 CYBA CYBB DNAJC21 DNMT1 EFL1 EN1 FLVCR1 FOXP3 GATA2 HBB HLA-B HPGD IFNGR1 IGHM IGLL1 IKBKG IL12RB1 IL1R1 IL1RN IL6ST ITGB2 LPIN2 LRRC8A MPV17 MTAP NCF1 NCF2 NGF NTRK1 PGM3 PIK3R1 PLEKHM1 RAB7A REL RETREG1 SBDS SCNN1A SCNN1B SCNN1G SLC39A7 SLCO2A1 SPI1 SPTBN1 SPTLC1 SPTLC2 SRP54 STAT1 STAT3 SYK TCF3 TCIRG1 TNFSF11 ZNF341 HP_OSTEOPATHIA_STRIATA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPATHIA_STRIATA AMER1 PORCN RAB3GAP2 TONSL WDR26 HP_OSTEOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPENIA AARS1 ADAMTS2 ADAMTSL2 ADCY10 AEBP1 AFF3 AGK AIP ALDH18A1 ALG3 ANAPC1 ANO5 ANTXR2 ATP6V0A2 ATP7A ATP8B1 AVP B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BMP15 BMP2 BNC1 BRAF BUD23 CARS1 CAVIN1 CBFB CCND1 CDC73 CDH23 CDKN1C CEACAM3 CEACAM6 CFTR CHD7 CHST3 CLCA4 CLIP2 CLPB COG1 COL1A1 COL5A1 COL5A2 COL7A1 COPB2 COX4I2 CREB3L1 CRIPT CRTAP CTC1 CTCF CYP19A1 CYP27A1 CYP3A4 DCAF17 DCHS1 DCTN4 DDOST DNAJC21 DNAJC30 DPM2 DUSP6 EDNRA EED EFL1 EIF4H ELANE ELN ERCC2 ERCC3 ESR1 FARSB FAT4 FBLN5 FBN1 FBN2 FGF17 FGF8 FGFR1 FGFR2 FKBP10 FKBP14 FKBP6 FLRT3 FOXA2 FSHR FUT8 GATA1 GBA1 GCLC GCM2 GEMIN4 GFI1 GLI2 GLIS3 GNAS GNPAT GNPTAB GNRH1 GNRHR GORAB GPAA1 GPR35 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 HBB HECW2 HERC2 HESX1 HFE HMOX1 HNRNPH1 HNRNPK HPGD HRAS HS6ST1 HSD17B4 IARS2 IER3IP1 IFIH1 IFITM5 IFT140 IGF1 IKBKG IL17RD IL1RN IL6ST IRX5 KCNJ1 KCNN4 KISS1 KISS1R KL KNSTRN KRAS LAMA5 LHX4 LIFR LIMK1 LMNA LRP5 LTBP4 MAFB MAGEL2 MAN2B1 MBTPS2 MDM4 MEN1 METTL27 MGAT2 MIA3 MIF MKRN3 MLXIPL MMP1 MMP14 MMP2 MPLKIP MRPS22 MSH4 MST1 MTAP MTTP MTX2 NAA20 NAF1 NAGA NCF1 NDN NF1 NFKBIA NHERF1 NHLH2 NOTCH2 NPAP1 NPR2 NR5A1 NRAS NSMF NUP107 OCA2 OTX2 P3H1 P4HB PAPPA2 PDE11A PIGT PIGU PIGY PIK3CD PLEKHM1 PLOD1 PLOD2 PLOD3 PMM2 POC1A POLE POLR3A POLR3H POU1F1 PRKACA PRKAR1A PRLR PROK2 PROKR2 PROP1 PSAP PSMC3IP PTH1R PWAR1 PWRN1 PYCR1 PYGL RECQL4 RFC2 RIGI RNF113A RNF125 RNU4ATAC RPL11 RSPRY1 SATB2 SBDS SCARB2 SEC23A SEC24D SEMA4D SERPINA1 SERPINH1 SGMS2 SH3PXD2B SIM1 SKI SLC10A1 SLC11A1 SLC12A1 SLC17A5 SLC26A9 SLC2A2 SLC34A1 SLC35A2 SLC37A4 SLC39A13 SLC39A8 SLC6A14 SLC7A7 SLC9A3 SMARCAL1 SMARCD2 SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX3 SPIDR SPRY4 SRP19 SRP54 STAT1 STAT3 STN1 STX1A STX3 TAC3 TACR3 TAF1 TAPT1 TARS1 TBL2 TCF12 TCF4 TCIRG1 TERT TGFB1 TMEM270 TMEM38B TMEM67 TNFRSF11B TNNC2 TOM1 TONSL TRAF3IP1 TREM2 TRPS1 TRPV6 TTC26 UNC80 UROD UROS USP9X VPS37D WDR11 XYLT2 ZMPSTE24 ZNF668 ZNF699 ZSWIM7 HP_OSTEOPETROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPETROSIS AMER1 ANKH CA2 CLCN7 CSF1R DHCR24 FERMT3 GJA1 KARS1 LRP5 MITF OSTM1 PLEKHM1 PTDSS1 SLC4A2 SNX10 TCIRG1 TNFRSF11A TNFSF11 HP_OSTEOPOROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPOROSIS ABCC9 ADAMTS2 ADAMTSL2 ADCY10 AEBP1 AIP ALB ANAPC1 ANTXR2 ARMC5 ASAH1 ASXL1 ASXL2 ATP6V0A1 ATP7A ATP7B ATRX B3GALT6 B3GAT3 BANF1 BAZ1B BCL7B BMP1 BMP15 BMP2 BMP6 BNC1 BRAF BUD23 CALCR CANT1 CAVIN1 CBL CBS CCN6 CDC73 CDH23 CEACAM3 CEACAM6 CFTR CHD7 CHST3 CLCA4 CLIP2 COL1A1 COL1A2 COL2A1 COL7A1 CPLX1 CTBP1 CTC1 CTDP1 CYB5A CYP11A1 CYP17A1 CYP19A1 CYP27A1 DCTN4 DHX37 DKC1 DKK1 DMRT3 DNAJC30 DPAGT1 DUSP6 EDNRA EIF2AK3 EIF4H ELN ERCC6 ESR1 ESR2 FAT4 FGF17 FGF8 FGFR1 FKBP10 FKBP6 FLRT3 FOXA2 FSHR G6PC1 GALNS GALT GATA1 GATA4 GCLC GCM2 GK GLB1 GLI2 GNAS GNRH1 GNRHR GORAB GPAA1 GPR35 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HAMP HBB HERC2 HESX1 HFE HJV HLA-DQA1 HLA-DQB1 HMOX1 HPGD HS6ST1 HSD17B4 HSD3B7 HSPG2 HTRA1 IFIH1 IFT122 IFT43 IFT52 IGF1 IL12A IL12RB1 IL17RD IL6ST IRF5 KCNJ8 KCNN4 KDELR2 KISS1 KISS1R KIT LAMA3 LAMB3 LAMC2 LARS2 LETM1 LHX4 LIFR LIMK1 LMNA LMX1B LRP5 LRP6 MAGEL2 MALT1 MAP3K1 MED12 MEN1 METTL27 MIF MKRN3 MLXIPL MMEL1 MMP1 MMP14 MMP2 MRPS22 MSH4 MST1 MTRR NCF1 NDN NDUFAF1 NELFA NF1 NFIX NGLY1 NHERF1 NHLH2 NHP2 NOP10 NOTCH2 NPAP1 NPM1 NR0B1 NR3C1 NR5A1 NSD2 NSMF NUP107 OCA2 OTX2 PARN PCCA PCCB PDE11A PDGFRB PDLIM4 PEX12 PHKA2 PHKB PHKG2 PIGG PIGT PLOD1 PLOD2 PMM2 POF1B POLD1 POLG POLG2 POLR3H POU1F1 POU2AF1 PRDM5 PRG4 PRKACA PRKAR1A PRLR PROK2 PROKR2 PROP1 PSMC3IP PWAR1 PWRN1 PYCR1 PYGL RAB3GAP1 RECQL4 RFC2 RIN2 RNU4ATAC RNU7-1 RPL10 RPL11 RRM2B RTEL1 RUNX1 RUNX2 SATB2 SC5D SCN4A SEMA4D SERPINA1 SGMS2 SH3PXD2B SIM1 SLC11A1 SLC25A19 SLC25A4 SLC26A9 SLC34A1 SLC37A4 SLC6A14 SLC7A7 SLC9A3 SLCO2A1 SMAD3 SMPD1 SMS SNORD115-1 SNORD116-1 SNRPN SOX3 SOX9 SP7 SPARC SPIB SPIDR SPRTN SPRY4 SRC SRSF2 SRY STAT1 STX1A TAC3 TACR3 TBCK TBL2 TCF12 TCF4 TENT5A TERC TERT TET2 TGFB1 TGFBR2 TINF2 TMEM165 TMEM270 TMEM67 TNFRSF11A TNFRSF11B TNFSF15 TNPO3 TOM1 TP53 TRAPPC2 TRIP11 TRMT10A TWNK TYMS UROD UROS USB1 USP48 USP8 VAMP7 VPS37D VPS53 WDR11 WDR19 WDR35 WNT1 WNT3A WRAP53 WRN WT1 WWOX XYLT2 ZBTB20 ZFPM2 ZNF469 ZSWIM7 HP_OSTEOSARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOSARCOMA ADA2 ANAPC1 CDKN2A CHEK2 GATA1 HEATR3 LMNA MDM2 MTAP RB1 RECQL4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SQSTM1 TP53 TSR2 WRN HP_OTITIS_MEDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTITIS_MEDIA A2ML1 ABCA12 ACP5 ADA ADA2 ADAT3 AGA AGR2 AK2 ALMS1 ALOX12B ALOXE3 ANAPC1 ANKRD11 AP3B1 APC2 ARHGAP29 ARHGEF38 ARVCF ASPRV1 ATN1 BAP1 BAZ1B BCL7B BCOR BLM BLNK BMP4 BPTF BTK BUD23 C1QB C4B CARMIL2 CCDC103 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CD19 CD247 CD3D CD3E CD3G CD4 CD79A CD79B CD81 CDC42BPB CDH1 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP74 CFI CIITA CLCN7 CLIP2 COBLL1 COL11A1 COL2A1 COMT CORO1A CPLX1 CR2 CREBBP CTBP1 CTLA4 CXCR4 CYBA CYBB CYBC1 CYP4F22 DCLRE1C DDB1 DEAF1 DHCR7 DLG1 DLK1 DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DOCK2 DOCK8 DPF2 DPP9 DRC1 EIF4H ELANE ELN EP300 FCGR3A FGF3 FGFR2 FGFR3 FKBP6 FLII FLNA FMR1 FOCAD FOXJ1 FOXP1 FZD2 G6PC3 GAS2L2 GAS8 GATA2 GLRA2 GNB2 GNPTAB GNS GP1BB GRHL3 GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C3 H4C5 HEPHL1 HIRA HLA-DPA1 HLA-DPB1 HYAL1 HYDIN ICOS IDS IDUA IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IL11RA IL17RA IL21R IL2RB IL2RG IL6R IL6ST IL7R IQSEC2 IRF2BP2 IRF6 JAGN1 JAK3 JMJD1C KANSL1 KAT6A KDM6A KIF15 KMT2A KMT2D KMT5B LBR LETM1 LIG1 LIMK1 LIPN LRBA LRRC56 LRRC8A MAGT1 MAN2B1 MAP3K7 MAPK1 MCIDAS MED12 MEG3 METTL27 MGP MLXIPL MNS1 MS4A1 MSX1 NAA10 NBN NCF1 NCF2 NCF4 NCKAP1L NECTIN1 NEK10 NELFA NFKB1 NFKB2 NFKBIA NIPAL4 NIPBL NME5 NME8 NSD1 NSD2 NXN OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PCYT1A PDGFRA PGM1 PGM3 PHIP PIGG PIK3CD PIK3CG PIK3R1 PLCG2 PNP POLR3A PRKAR1B PRKCD PRTN3 PSMB8 PSMD12 PTEN PTPN22 RAC1 RAC2 RAG1 RAG2 RAI1 RELB RFC2 RFX5 RFXANK RFXAP RIC1 RNF168 RNF2 RNU4ATAC ROR2 RPGR RPL11 RREB1 RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RUNX2 SDCCAG8 SDR9C7 SEC24C SETD2 SH3KBP1 SLC25A12 SLC35C1 SLC37A4 SLC39A7 SMARCD2 SMG9 SNX10 SPAG1 SPEF2 SPI1 SPTBN1 SRCAP SRY STAT3 STK36 STX1A SULT2B1 SYK TAF1 TAOK1 TAP1 TAP2 TAPBP TBL2 TBX1 TBX4 TCF3 TCIRG1 TFE3 TGDS TGM1 TLK2 TLR8 TMCO1 TMEM270 TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNRC6B TP63 TP73 TPP2 TRAC TTC12 UBB UFD1 UNC119 USB1 USP26 VPS37D WAS WDR26 WIPF1 ZEB2 ZMYND10 ZNF341 HP_OTOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTOSCLEROSIS BPTF COL1A1 COL1A2 GDF6 IDS PSMD12 HP_OVAL_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVAL_FACE ADARB1 B3GALT6 CASK CNTN1 EBF3 EXOC2 HYOU1 NFIX PUF60 SH2B1 SLC25A12 SOX18 SPEN SPTBN1 TP63 TSPEAR HP_OVARIAN_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CARCINOMA BRCA1 BRCA2 CDKN2A KRAS PALB2 PALLD PDE11A PRKAR1A PTCH1 PTEN RABL3 RAD51C SMAD4 TP53 HP_OVARIAN_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CYST AGPAT2 AKT1 AKT2 ALMS1 ANTXR2 ATM BAZ1B BCL7B BSCL2 BUD23 CAV1 CAVIN1 CBX2 CIDEC CLIP2 CORIN CYB5A CYP11B1 CYP17A1 CYP19A1 DHH DHX37 DMRT1 DNAJC30 EIF4H ELN ESR1 F7 FKBP6 FLT1 FOS FOXL2 FSHR GNAS GTF2I GTF2IRD1 GTF2IRD2 HNF1A INSR KLLN LHB LIMK1 LIPE LMNA LMNB2 MAP3K1 METTL27 MLXIPL MMP14 MMP2 MSH3 MSX1 MT-CYB NCF1 NR0B1 NR5A1 NTHL1 OFD1 PANX1 PATL2 PDE11A PHKA2 PHKB PHKG2 PIK3CA PIK3R1 PLIN1 POR PPARG PRKAR1A PRLR PTEN RFC2 SDHB SDHC SDHD SEC23B SETD2 SLC37A4 SOX3 SOX9 SRY STK11 STOX1 STX1A TBL2 TBX1 TMEM270 TRPV6 TUBB8 USF3 VPS37D WEE2 WT1 HP_OVARIAN_GONADOBLASTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_GONADOBLASTOMA DHX37 DMRT3 GATA4 MAP3K1 NR0B1 NR5A1 SOX9 SRY VAMP7 WT1 WWOX ZFPM2 HP_OVARIAN_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_NEOPLASM AKT1 BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 CTNNB1 DHH DHX37 DICER1 DMRT3 EPCAM ERBB2 EWSR1 FAN1 FGFR2 FLI1 FOXE1 GATA4 IDH1 IDH2 KEAP1 KRAS LMNA MAP3K1 MBD4 MDM2 MLH1 MLH3 MRE11 MSH2 MSH3 MSH6 NBN NR0B1 NR5A1 OPCML PALB2 PALLD PDE11A PIK3CA PMS1 PMS2 PRKAR1A PRKN PTCH1 PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RELA RNF43 RPS20 SEMA4A SMAD4 SOX9 SPRED1 SRY STAG3 TGFBR2 TP53 VAMP7 WNT10A WRN WT1 WWOX ZFPM2 ZFTA HP_OVARIAN_PAPILLARY_ADENOCARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA AKT1 CDH1 CTNNB1 ERBB2 OPCML PIK3CA PRKN HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES BICRA FGFR2 GNAI3 PLCB4 SALL1 HP_OVERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH ARHGEF9 CAMK2A CDKN1C DICER1 DLK1 DNMT3A EED EFEMP2 EHMT1 ESR1 EZH2 FAM20A FBLN5 FIBP GPC3 GPC4 GPR101 H3-3B HECTD4 HERC1 HNRNPK HRAS HSPG2 IGF2 KCNQ1 KCNQ1OT1 KMT2C KRAS MEG3 NF1 NFIX NRAS NSD1 PDGFRB PIGA PIK3CA PIK3R2 PTEN RNF135 RTL1 SETD2 SOST SUZ12 TGFB3 HP_OVERGROWTH_OF_EXTERNAL_GENITALIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA AGPAT2 BSCL2 CAV1 CAVIN1 CDKN1C FOS IGF2 INSR KCNQ1 KCNQ1OT1 PPARG HP_OVERHANGING_NASAL_TIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERHANGING_NASAL_TIP ATN1 COG4 MAPKAPK5 METTL5 PRKACA SIN3A TCF4 TGFB3 HP_OVERLAPPING_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_FINGERS ALG12 ATN1 BICD2 BLTP1 CHST11 CNTN1 COASY COG7 CTU2 DOK7 EBP EVC EVC2 FLNA MADD MECOM MED25 MOGS MYBPC1 MYH3 MYOD1 NALCN NEK9 OTUD5 PI4KA PLOD3 PPP1R21 PRKDC PTF1A SAMD9 SETBP1 TMEM94 TNNI2 TNNT3 TPM2 HP_OVERLAPPING_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_TOE ARX ASXL1 ATN1 ATP6V1E1 BLTP1 BPTF CCDC22 CCDC47 CDC42 CHST11 CPLX1 CREBBP CTU2 DDX6 DHCR7 DLK1 EBP EP300 EXT2 EZH2 FGFR2 GDF6 GJA5 GJA8 GLI3 HNRNPK HUWE1 INTS1 INTS8 KAT8 MAPK1 MED12 MED25 MEG3 MYOD1 NEK9 OTUD6B PCGF2 PDZD8 PIEZO2 PPP1R21 PUF60 RAB11B RAB3GAP1 RAB3GAP2 RSPRY1 RTL1 SETBP1 SF3B4 SIN3A SLC35C1 SLC6A9 SMAD4 SNRPN SOD1 SOX5 TCF4 TELO2 THOC6 TMCO1 TMEM260 TMEM94 TPM2 UBE2A USP9X WIPI2 XYLT2 ZNF407 HP_OVERRIDING_AORTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERRIDING_AORTA BAZ1B BCL7B BUD23 CHD7 CLIP2 COX7B DNAJC30 EIF4H ELN FGFR2 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HCCS LARS2 LIMK1 METTL27 MLXIPL NCF1 NDUFB11 NEK9 RAI1 RFC2 STX1A TBL2 TGDS TMEM270 VPS37D HP_OVERTUBULATED_LONG_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERTUBULATED_LONG_BONES ATP6V1B2 COG4 KCNH1 KCNMA1 KCNN3 LMNA ZMPSTE24 HP_OVERWEIGHT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERWEIGHT ABCB4 ABCC8 ACADVL ADGRL1 AP1S3 AP4B1 AP4E1 AP4M1 AP4S1 APPL1 ASH1L BLK CEL CFAP418 CHD8 CTSK FOXP1 GCK HESX1 HNF1A HNF4A IGSF1 IL36RN INS KCNJ11 KLF11 LHX3 LHX4 NEUROD1 PAX4 PDSS1 PDX1 POU1F1 PROP1 SATB1 SLC9A7 SPG11 SPTBN1 TAOK1 THOC2 TMEM218 TRHR TRIP4 UNC45B USP7 ZBTB7A HP_OVOID_VERTEBRAL_BODIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOID_VERTEBRAL_BODIES ABCC9 ARSB B3GALT6 COL2A1 COMP DNAJC21 FBN1 FN1 FUCA1 GALNS GLB1 GNPTAB GNS HGSNAT IHH KCNJ8 LBR LIFR LTBP1 LTBP3 MATN3 NAGLU NPR2 PCYT1A POP1 SBDS SGSH SLC35D1 SMARCAL1 SRP54 TBX15 UBE3B HP_OVOTESTIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOTESTIS COX7B HCCS NDUFB11 NR5A1 RSPO1 SRY WNT4 HP_OXYCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OXYCEPHALY FGFR2 IL11RA MEGF8 RAB23 RECQL4 SOX6 TWIST1 HP_PACE_OF_PROGRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PACE_OF_PROGRESSION AAAS AARS2 ABCD1 ABCD3 ABHD12 ACER3 ACTA1 ACTN4 ADA2 ADH1C ADK ADSS1 AFG3L2 AGTPBP1 AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ALG14 ALG2 ALS2 ANO5 ANTXR2 AP4B1 AP5Z1 APOE AR ARHGDIA ASAH1 ASNS ATAD1 ATG5 ATL1 ATN1 ATP11A ATP13A2 ATP1A1 ATP2B3 ATP6AP2 ATP7A ATXN2 ATXN3 ATXN8OS B4GALNT1 BAG3 BRAT1 BSCL2 C19orf12 C9orf72 CACNA1A CACNA1G CAD CCDC88C CCNO CERS1 CFHR5 CFL2 CHCHD10 CHKB CHRND CHRNE CLCN5 CLDN14 CLN8 CLPB COA7 COASY COCH COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COPB2 COQ2 COQ6 COQ8B COX6A1 CPT1C CRAT CRPPA CRYAB CSF1R CTC1 CTSF CWF19L1 CYP7B1 DAB1 DARS1 DARS2 DCDC2 DCTN1 DDHD1 DDHD2 DEGS1 DGKE DIABLO DMXL2 DNA2 DNAJB11 DNAJB2 DNAJB6 DNAJC5 DNAJC6 DNM1L DNM2 DNMT1 DPAGT1 DPM1 DRD3 DYNC1H1 DYSF DZIP1L EEF2 ELMO2 ELOVL5 ELP1 ELP2 EMC1 EMD EPM2A EPRS1 ERLIN1 ERLIN2 EXOSC9 FA2H FAN1 FARS2 FAT2 FBXO38 FBXO7 FGF14 FHL1 FIG4 FKTN FLNC FLVCR1 FN1 FRG1 FTL FZD4 FZD6 GAN GARS1 GBA1 GBA2 GBE1 GDAP1 GDAP2 GEMIN5 GFPT1 GJB1 GLUD2 GNAS GNB4 GNS GOSR2 GPT2 GRHL2 GRM1 GRN GYG1 HEPACAM HINT1 HK1 HLA-DQB1 HNRNPA1 HNRNPDL HOXB1 HPCA HPDL HSPB1 HSPB3 HSPD1 IBA57 IGHMBP2 ILDR1 INF2 INPP5K IREB2 IRF2BPL ISCA1 ISCA2 ITPR1 JAG2 KBTBD13 KCNC1 KCNC3 KCND3 KCNK3 KCNQ4 KCNT1 KCTD17 KCTD7 KIF1A KIF1B KIF1C KIF5A KLC2 KMT2B KPNA3 KRT12 KY LAMA2 LAMB1 LIMS2 LMNA LMNB1 LMNB2 LRP12 LRP5 LRRK2 LRSAM1 LYRM7 MAG MAP2K1 MAP3K20 MAPKBP1 MAPT MARCHF6 MARS1 MCM2 MCM3AP MECP2 MECR MED17 MFF MFN2 MFSD2A MFSD8 MGME1 MICOS13 MME MOCS1 MOCS2 MORC2 MPV17 MPZ MRE11 MRPS34 MT-TT MTAP MTMR14 MTPAP MTRFR MYH14 MYH7 MYMK MYO1E MYORG MYOT MYPN NAGLU NALCN NAXE NBEAL2 NDUFA12 NDUFA13 NDUFAF2 NDUFB9 NDUFS1 NDUFS7 NEFH NEFL NHLRC1 NIPA1 NKX6-2 NLRP3 NOL3 NOP56 NPHS1 NPHS2 NR1H4 NR4A2 NUP107 NUP133 NUP160 NUP214 NUP85 NUP93 OPA1 OPTN ORAI1 PABPN1 PANK2 PARK7 PCLO PCNA PDE10A PDE8B PDGFB PDGFRB PDK3 PDXK PDYN PEX10 PEX16 PEX2 PIEZO2 PIK3R5 PINK1 PKD2 PLA2G6 PLCE1 PLD3 PLEC PLEKHG5 PLP1 PMP2 PMP22 PMPCA PMPCB PNKP PNPLA2 PNPLA6 PNPLA8 POGLUT1 POLG POLG2 POLR3A POLR3B POMGNT1 POMT1 PRDM8 PRICKLE1 PRKCG PRKRA PRNP PRUNE1 PRX PSEN1 PTRH2 PUM1 PYCR2 PYROXD1 QARS1 RARS2 RBCK1 REEP2 REPS1 RETREG1 RFC1 RNASEH1 RNASEH2C RNASET2 RRM2B RTN2 RUBCN RYR1 SAMD12 SBF1 SCARB2 SCN8A SCN9A SEC61A1 SETX SGCA SGCG SGPL1 SIGMAR1 SLC12A6 SLC20A2 SLC25A4 SLC33A1 SLC34A2 SLC39A14 SLC44A4 SLC52A2 SLC52A3 SLC5A7 SLC6A3 SLC9A1 SMAD9 SMN1 SMN2 SNCA SNCAIP SNORD118 SOST SOX18 SPAST SPG11 SPG21 SPRY2 SPTBN2 SQSTM1 STARD7 STIM1 STUB1 SURF1 SYNE1 SYNJ1 SYT14 TARDBP TBC1D24 TBCE TBK1 TBP TEAD1 TENM4 TFAM TFG TGM6 TIA1 TJP2 TK2 TMEM240 TMEM43 TNFRSF11A TNFRSF11B TOR1AIP1 TPP1 TRAK1 TRAPPC12 TRAPPC2L TRAPPC6B TREX1 TRIM32 TRPC3 TRPV4 TTN TTR TUBB4A TUBB6 TWNK TXN2 TYMP UBA5 UBQLN2 UCHL1 UMOD VAC14 VARS1 VCP VLDLR VMA21 VPS13A VPS13C VPS53 VRK1 VWA3B WARS1 WASHC5 WDR45B WNK1 WT1 XPR1 XRCC1 YARS2 YEATS2 ZFYVE26 HP_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN AAGAB ABCA1 ABCB11 ABCB4 ABCC2 ABCC6 ABCC9 ABCD1 ABCG5 ABCG8 ACAD9 ACADM ACADVL ACP5 ACTA2 ACTC1 ACTG2 ACTN4 ADA2 ADAMTS19 AGBL1 AGXT AIP AKT1 ALAD ALDH18A1 ALDH4A1 ALDOA ALDOB ALG5 ALG9 ALMS1 AMPD1 AMPD3 ANG ANK1 ANKFY1 ANKH ANKRD55 ANLN ANO5 ANTXR2 ANXA11 AP1S3 AP2S1 APC APOB APOL1 APRT ARHGAP24 ARHGDIA ARSB ARVCF ASAH1 ASPN ASXL1 ATL1 ATL3 ATP2A1 ATP7A ATP7B ATP8B1 ATRX ATXN2 ATXN3 B2M BAP1 BAZ1B BCL10 BCL11A BCL7B BCOR BICC1 BIN1 BIRC3 BMP2 BMP6 BMPR1A BRCA1 BRCA2 BSCL2 BTNL2 BUD23 BVES C1QB C1R C1S C4A CALR CAPN3 CARD8 CARS2 CASK CASQ1 CASR CAT CAV1 CAV3 CAVIN1 CBL CCDC78 CCN2 CCN6 CCND1 CCNF CCR1 CCR6 CD19 CD244 CD247 CD2AP CD46 CD55 CD81 CDC73 CDH2 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEBPE CEL CFAP410 CFH CFI CFTR CHCHD10 CHEK2 CHMP2B CHST11 CHST3 CHST6 CIITA CLCN1 CLCN5 CLCN7 CLCNKB CLDN16 CLIP2 CLPB CNBP COL10A1 COL11A1 COL11A2 COL14A1 COL17A1 COL1A1 COL2A1 COL3A1 COL4A3 COL4A5 COL4A6 COL5A1 COL5A2 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COMP COMT COPA COQ6 COQ7 COQ8B CORIN COX6B1 CPA1 CPOX CPT2 CR2 CRB2 CRLF1 CRPPA CTLA4 CTNNB1 CTNS CTRC CTSK CYP19A1 CYP27B1 CYP2R1 CYSLTR2 DAAM2 DAO DAXX DBH DCC DCTN1 DDB2 DDIT3 DDRGK1 DEPDC5 DGAT1 DGUOK DIS3L2 DKK1 DLEC1 DLL3 DLST DMD DMP1 DMPK DNA2 DNAJB11 DNAJB6 DNAJC30 DNAL4 DNASE1L3 DNM1L DNM2 DNMT3A DPM3 DSE DSG2 DYSF ECE1 EDN3 EDNRB EHHADH EIF4H ELANE ELF4 ELN EMD EMP2 ENG ENO3 ENPP1 EPAS1 EPB41 EPB42 EPCAM EPHA4 EPOR ERAP1 ERBB2 ERBB3 ERBB4 ERCC2 ERCC3 ERCC4 ERCC5 ERLIN1 ESR1 EWSR1 EXT1 EXT2 F12 F5 F8 FAN1 FAR1 FAS FBN1 FDX2 FERMT3 FGF13 FGF23 FH FHL1 FIG4 FIP1L1 FKBP6 FKRP FKTN FLI1 FLNC FLT1 FLVCR1 FMR1 FN1 FOXE1 FOXE3 FOXP1 FSHR FTL FUS G6PD GANAB GAPVD1 GATA4 GATA5 GATA6 GATM GBA1 GCGR GDNF GFI1 GHSR GJA5 GJB2 GJB6 GLA GLE1 GLT8D1 GNA11 GNA14 GNAQ GNAS GNB2 GNE GNPTG GOSR2 GP1BB GPC3 GPR101 GPR35 GRHL2 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C GYPC H19 HABP2 HADHA HADHB HARS1 HBB HBG1 HBG2 HELLPAR HEPHL1 HEXB HEY2 HFE HGD HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HOGA1 HPDL HPGD HPS1 HS3ST6 HSPG2 HTRA1 HYAL1 ICOS IDH1 IDH2 IDUA IFNGR1 IFT140 IGHG2 IGKC IKZF1 IL10 IL12A IL12A-AS1 IL12B IL1R1 IL1RN IL23R IL2RA IL2RB IL36RN IL6 INF2 IRAK1 IRF2BP2 IRF4 IRF5 JAK2 JMJD1C KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNN4 KCNQ1 KIF1B KIF7 KIT KLF1 KLRC4 KRAS KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B KY LACC1 LBR LDHA LDLR LDLRAP1 LEMD3 LIG3 LIMK1 LMNA LMNB1 LMNB2 LMX1B LOX LPIN1 LPIN2 LPL LRP1 LRP5 LZTR1 MAFB MAGI2 MALT1 MAT2A MATN3 MATR3 MAX MC2R MCM6 MDH2 MDM4 MED12 MEF2A MEFV MEN1 MESP2 MET METTL27 MFAP5 MFN2 MIEF2 MIF MINPP1 MITF MLH1 MLH3 MLIP MLX MLXIPL MLYCD MME MMP1 MMP13 MMP2 MMUT MOCOS MPL MRAP MRPS2 MS4A1 MSH2 MSH6 MSMO1 MST1 MSTO1 MT-ATP6 MT-CO1 MT-CO3 MT-TE MT-TK MT-TL1 MTMR14 MTTP MVK MYBPC3 MYC MYF6 MYH11 MYH3 MYH7 MYL2 MYL4 MYLK MYO1E MYOT NAB2 NABP1 NAGLU NCF1 NCF4 NDUFAF6 NEFH NEK1 NF1 NF2 NFKB1 NFKB2 NFKBIL1 NGF NGLY1 NKX2-5 NKX2-6 NKX3-2 NLRC4 NLRP12 NLRP3 NNT NOD2 NOS1 NOTCH2 NPHS1 NPHS2 NPM1 NPPA NPRL2 NPRL3 NR1H4 NRTN NTN1 NTRK1 NUMA1 NUP107 NUP133 NUP155 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OPA1 OPA3 OPLAH OPTN ORAI1 OTC OTULIN OVOL2 P4HA2 PALB2 PALLD PAX2 PCSK9 PDGFB PDGFRA PFKM PFN1 PGAM2 PGK1 PHEX PHKA1 PHKA2 PHKB PHKG2 PIEZO1 PIGA PIGT PIGY PIK3CA PIK3CG PITX2 PKD1 PKD2 PKDCC PKHD1 PLCE1 PLCG2 PLEKHM1 PLN PML PMP22 PMS1 PMS2 PNPLA2 PNPT1 POLE POLG POLG2 POLR3A POLR3GL POMP POMT1 PON1 PON2 PON3 PORCN POU6F2 PPA2 PPARG PPARGC1A PPOX PRDM5 PRKAG2 PRKAR1A PRKCD PRKCSH PRKG1 PRKRA PRNP PRORP PRPH PRSS1 PRSS2 PRTN3 PSAP PSMB4 PSMB8 PSMB9 PSTPIP1 PTEN PTH1R PTPN11 PTPN2 PTPN22 PTPN3 PTPRO PYGM RABL3 RAD21 RAD51 RARA RASA1 RB1 RBCK1 REEP2 RELA REST RET RFC2 RIPK1 RNASEH1 RNF168 RNF6 RNU4ATAC RPS20 RREB1 RRM2B RUNX1 RYR1 SAA1 SAT1 SCARB2 SCN11A SCN1B SCN2B SCN3B SCN4A SCN4B SCN5A SCN9A SCNN1A SCNN1B SCNN1G SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEC63 SEMA3C SEMA3D SEMA4A SEMA4D SEPTIN9 SERPINF2 SERPING1 SF3B1 SFRP4 SH2B3 SH3TC2 SI SLC12A3 SLC22A12 SLC22A4 SLC25A11 SLC25A26 SLC25A4 SLC25A42 SLC26A1 SLC26A2 SLC2A9 SLC34A1 SLC34A2 SLC34A3 SLC39A14 SLC40A1 SLC4A1 SLC4A11 SLCO2A1 SMAD2 SMAD3 SMAD4 SMARCB1 SMARCE1 SMO SMPD1 SNX10 SOD1 SOST SOX10 SPAST SPG7 SPINK1 SPP1 SPTA1 SPTB SPTBN1 SPTLC1 SPTLC2 SQSTM1 SREBF1 SRP19 SRP54 SRSF2 STAR STAT3 STAT4 STAT5B STAT6 STIM1 STING1 STK11 STOX1 STX16 STX1A SUFU SVIL SYK SYNE1 SYNE2 TACSTD2 TAF15 TARDBP TBC1D8B TBK1 TBL1XR1 TBL2 TBX1 TBX18 TBX6 TCF4 TCIRG1 TEK TERT TET2 TGFB1 TGFB2 TGFB3 TGFBI TGFBR1 TGFBR2 THPO THSD4 TK2 TLR4 TLR7 TMEM126B TMEM127 TMEM270 TMEM43 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNNC1 TNXB TONSL TP53 TRAF7 TRAPPC11 TRAPPC2 TREH TREM2 TREX1 TRIM28 TRIM32 TRIP13 TRPA1 TRPC6 TRPM4 TRPS1 TRPV4 TSC1 TSC2 TTN TWNK TXNRD2 TYMP TYROBP UBA1 UBAC2 UBQLN2 UFD1 UFSP2 UNC13A UNC45A UQCRH VANGL1 VAPB VCP VDR VHL VPS37D VSX1 VWA1 WAS WASHC5 WIPF1 WNT1 WNT3A WRN WT1 WWOX XPA XPC ZBTB16 ZEB1 ZFTA ZMPSTE24 ZNF469 ZNF687 ZNRF3 HP_PAINLESS_FRACTURES_DUE_TO_INJURY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAINLESS_FRACTURES_DUE_TO_INJURY KIF1A MPV17 NGF NTRK1 RETREG1 SCN9A WNK1 ZFHX2 HP_PAIN_INSENSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_INSENSITIVITY ATL1 ATL3 CACNA2D1 CLTCL1 DDHD1 DEAF1 DNM1L EBF3 GRIA3 HDAC4 IARS2 KDM5C MECP2 MPV17 NGF NGLY1 NTRK1 PRDM12 RFX7 SCN11A SCN9A SPTLC1 SPTLC2 TDP1 TMEM218 TRIO TRPM3 ZFHX2 HP_PAIN_IN_HEAD_AND_NECK_REGION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_IN_HEAD_AND_NECK_REGION AGBL1 AKT1 BAP1 CHST6 COL17A1 COL8A2 CTNS CYSLTR2 DKK1 GNA11 GNAQ GRHL2 HMBS HTRA1 KRT16 KRT17 KRT6A KRT6B NF2 NTRK1 OVOL2 PDGFB PIK3CA RASA1 SCN9A SF3B1 SLC39A14 SLC4A11 SMARCB1 SMARCE1 SMO SUFU TACSTD2 TCF4 TERT TGFBI TONSL TRAF7 VSX1 ZEB1 HP_PALATE_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALATE_FISTULA ARHGAP29 ARHGEF38 BMP4 CDH1 COBLL1 DLG1 DLX4 IRF6 MSX1 NECTIN1 PDGFRA RIC1 TP63 HP_PALLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALLOR ABCC8 ACAT1 ADA2 AGBL5 AIP ALAS2 ALS2 AMN ANK1 ASXL1 ATP1A2 ATP1A3 BMPR1A CACNA1A CACNA1H CALR CASK CCND1 CDH23 CDIN1 CLCN7 COL12A1 CUBN DEPDC5 DHFR DLST DNMT3A ENG EPAS1 EPB41 EPB42 FANCA FANCC FANCD2 FANCE FANCI FBP1 FH G6PD GABRA1 GABRB3 GABRG2 GATA1 GATA2 HBA1 HBA2 HBB HBG1 HBG2 HEATR3 HEXA HMGCL HNF1A HNF4A IKBKG JAK2 JRK KCNJ11 KCNQ2 KIF1B KIF23 KIT KLF1 LRAT MAX MDH2 MEN1 MMADHC MPL MSTO1 MT-CYB MYD88 NF1 NPRL2 NPRL3 OPA1 PCDH19 PIEZO1 PKLR POMGNT1 PTS PUS1 RACGAP1 RAG1 RAG2 RAX2 RET RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SF3B1 SH2B3 SLC19A2 SLC1A3 SLC25A11 SLC2A1 SLC46A1 SLC4A1 SMAD4 SNX10 SPTA1 SPTB SRSF2 STEAP3 TCIRG1 TET2 TMEM126A TMEM127 TMPRSS6 TNFSF11 TRNT1 TSR2 TTC8 UCP2 VHL WDR19 YARS2 ZNF699 HP_PALMAR_HYPERHIDROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERHIDROSIS CDSN CFTR CTSB KRT16 KRT17 KRT6A KRT6B LAMB3 MBTPS2 PERP PLAA RSPO1 SERPINB7 TRPV3 WNT10A HP_PALMAR_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERKERATOSIS AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 AP1B1 AQP5 ATP2A2 BAG3 BAG5 BRAF CAP2 CARD14 CAST CD28 CERS3 CFTR COG6 COL14A1 COL17A1 COL7A1 CRYAB CSRP3 CST6 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP DST ENPP1 FERMT1 FGFR2 FHL2 FIG4 FKTN GATAD1 GJA1 GJB2 GJB3 GJB4 GJB6 GMPPA GRHL2 HAND2 HPGD ITGB4 JPH2 JUP KANK2 KDSR KLHL24 KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LMNA LMOD2 LORICRIN LSS MAP2K1 MAP2K2 MBTPS2 MCOLN1 MMP1 MT-TS1 MTX2 MYBPC3 MYH6 MYH7 MYPN NECTIN1 NECTIN4 NEXN NHP2 NIPAL4 NLRP1 NOP10 NPM1 PARN PDGFRB PEPD PERP PIGL PIK3CA PKP1 PLEC PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RHBDF2 RPL3L RSPO1 RTEL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINA12 SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 SRD5A3 STS SULT2B1 TAF1A TAFAZZIN TAT TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRPM4 TRPV3 TTN TXNRD2 TYMS USB1 USF3 VCL VEZF1 VPS33B WNT10A WRAP53 ZC4H2 HP_PALMAR_HYPERLINEARITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERLINEARITY ALOX12B ALOXE3 CERS3 CYP4F22 FLG KDF1 STS HP_PALMAR_PITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_PITS ATP2A2 CIB1 KRT5 POFUT1 POGLUT1 PSENEN PTCH1 PTCH2 SUFU HP_PALMAR_PRURITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_PRURITUS ABCB11 ABCB4 ATP8B1 CFTR NR1H4 HP_PALMAR_TELANGIECTASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_TELANGIECTASIA ACVRL1 GPR35 LBR MST1 SEMA4D SOX18 TCF4 HP_PALMOPLANTAR_BLISTERING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_BLISTERING COL7A1 DSG1 KRT1 KRT14 KRT16 KRT17 KRT5 KRT6A KRT6B PKP1 PLEC HP_PALMOPLANTAR_CUTIS_LAXA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_CUTIS_LAXA ATP6V0A2 C1R FGFR2 FGFR3 LZTR1 MRAS PLOD1 RIT1 ZNF469 HP_PALMOPLANTAR_ERYTHEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_ERYTHEMA DSP GJA1 GJA5 GJA8 WNT10A HP_PALPEBRAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPEBRAL_EDEMA ACTB ACTG1 ADAMTS2 AIP ANTXR1 CAMTA1 CDH11 COL1A1 COL5A1 COL5A2 DHX30 DNMT3B DUX4 DUX4L1 FOXG1 FRG1 FRMD4A GNPTAB GPR101 GSN KAT6A KCTD1 KIF1A KNSTRN KPTN MED12L PEX2 PEX5 PIK3CD POU4F1 PSPH RIN2 SHANK3 SLC29A3 SLC35C1 SMCHD1 SNX14 SOX18 SPTBN1 TGFBI XPNPEP2 ZNHIT3 HP_PALPITATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPITATIONS ABCC8 ABCC9 ACTC1 ADAMTS19 ATRX BVES CACNA1S CACNA2D1 CAV3 CCND1 CDH2 CDH23 CDKN2A CITED2 CLCNKB CNBP CTNNB1 DAXX DLST DNMT3A DSC2 DSG2 DTNA EMD EPAS1 FH GABRA3 GATA4 GATA5 GATA6 GCGR GJA5 GYG1 HNF1A ISCU JPH2 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ3 KCNJ5 KCNQ1 KIF1B KLHL24 MAX MDH2 MEN1 MYH6 MYL2 MYL3 MYL4 MYOZ2 NF1 NKX2-5 NKX2-6 NPPA NUP155 PITX2 PKP2 PNPLA2 POLG POLG2 PRKAG2 PRKAR1A RET RRM2B SCN1B SCN2B SCN3B SCN4B SCN5A SCN9A SDHA SDHAF2 SDHB SDHC SDHD SLC12A3 SLC25A11 SLC25A4 SLC4A3 TBX20 TECRL TERT TLL1 TMEM126B TMEM127 TMEM43 TP53 TTN TWNK UCP2 VHL YY1 ZNRF3 HP_PANCREATIC_ADENOCARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ADENOCARCINOMA AAGAB BMPR1A BRCA1 BRCA2 CDC73 CDKN2A COL14A1 CTRC EPCAM FAN1 KRAS MLH1 MLH3 MSH2 MSH6 NTHL1 PALB2 PALLD PIK3CA PMS1 PMS2 RABL3 RNF43 RPS20 SEMA4A SMAD4 SPINK1 STK11 TGFBR2 TP53 HP_PANCREATIC_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_APLASIA CNOT1 GATA6 HNF1B LHX1 PDX1 PTF1A HP_PANCREATIC_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CALCIFICATION ABCC6 CASR CFTR CPA1 CTRC ENPP1 PRSS1 PRSS2 SPINK1 HP_PANCREATIC_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CYSTS ALG5 ALG9 B9D1 B9D2 BICC1 CC2D2A CCND1 CEP290 CSPP1 DNAJB11 DZIP1L GANAB GLIS3 IFT140 MKS1 NPHP3 OFD1 PKD1 PKD2 PKHD1 RBM8A RPGRIP1 RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 VHL WDR19 XPNPEP3 HP_PANCREATIC_ENDOCRINE_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ENDOCRINE_TUMOR CCND1 CDKN1A CDKN1B CDKN2B CDKN2C GCGR IFNG KCNJ11 MAFA MEN1 TSC1 TSC2 VHL HP_PANCREATIC_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_FIBROSIS B9D1 B9D2 CC2D2A CEP290 CSPP1 DYNC2I1 MKS1 NEK1 NPHP3 PTRH2 RPGRIP1 RPGRIP1L SLC37A4 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 HP_PANCREATIC_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_HYPOPLASIA ABCC8 APPL1 BLK CEL DNAJC21 EFL1 FOCAD GATA6 GCK GLIS3 HNF1A HNF1B HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PTF1A RFX6 SBDS SLC29A3 SRP54 STAT3 HP_PANCREATIC_ISLET_CELL_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_ADENOMA CCND1 CDKN1A CDKN1B CDKN2B CDKN2C KCNJ11 MAFA MEN1 VHL HP_PANCREATIC_ISLET_CELL_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA ABCC8 DIS3L2 FAH GCGR GPC3 GPC4 HNF4A INSR KCNJ11 LBR SLC16A1 UCP2 HP_PANCREATIC_PSEUDOCYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_PSEUDOCYST CFTR CTRC PRSS1 PRSS2 SPINK1 HP_PANCREATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATITIS ABCB4 ACTG2 AGPAT2 ALMS1 AP2S1 APOC2 APOE ATP8B1 BCKDHA BCKDHB BSCL2 C4A CASR CAV1 CBS CCDC47 CCR1 CDC73 CFTR CIDEC CPA1 CTLA4 CTRC CYBC1 DBT ERAP1 FAS FCGR2A FLI1 G6PC1 GCGR GK GNA11 GNAS GPIHBP1 GPR35 HLA-B HLA-DPA1 HLA-DPB1 HMGCL IFNGR1 IFT172 IKZF1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LMF1 LMNA LPL MEFV MMUT MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NADK2 NDUFS3 NFS1 NSMCE2 PCCA PCCB PDE11A PNPLA2 PPARG PRSS1 PRSS2 PRTN3 PTPN22 RNU7-1 SEMA4D SLC25A13 SLC37A4 SLC7A7 SMARCAL1 SPINK1 STAT4 STUB1 TCF4 TGFB1 TKFC TLR4 UBAC2 UQCRH XPNPEP3 HP_PANCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCYTOPENIA ACD ACP5 ADA2 ALPK1 AMN ANAPC1 ASXL1 ATR BACH2 BCOR CA2 CALR CBL CD27 CIITA CLPB COG6 COQ2 CUBN DCLRE1B DHFR DKC1 DNAJC21 DNASE2 DPP9 DUT EFL1 ELANE FANCA FANCB FANCC FANCD2 FANCE FARSB FIP1L1 GATA2 GBA1 GFI1 GNAS HAVCR2 HLA-DRB1 HOXA11 IFIH1 IFNG IKZF1 IRF2BP2 ITCH ITK IVD JAK2 KRAS LIG4 LMBRD1 LRBA LYST MAN2B1 MMAA MMAB MPL MRPS7 MTHFD1 MTRR NABP1 NAXD NBN NHP2 NLRC4 NOP10 NPM1 NRAS NUMA1 OSTM1 PALB2 PCCA PCCB PIGA PML PRF1 PRKAR1A PSTPIP1 PTPRC RAB27A RAC2 RARA RECQL4 RFX5 RFXANK RFXAP RNASEH2A RPA1 RUNX1 SAMD9 SAMD9L SARS2 SBDS SCARB2 SF3B1 SH2D1A SLC46A1 SLX4 SMARCAL1 SP110 SRP19 SRP54 SRP72 SRSF2 STAT3 STAT5B STN1 TALDO1 TBL1XR1 TCF3 TCIRG1 TCN2 TERC TERT TET2 TINF2 TNFRSF4 TNFRSF9 TNFSF11 UBE2T WRAP53 XIAP XRCC4 ZBTB16 ZNF699 HP_PANHYPOGAMMAGLOBULINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOGAMMAGLOBULINEMIA AARS1 BTK CARS1 CIITA DCLRE1C ERCC2 ERCC3 GTF2E2 GTF2H5 IGHM IL21R JAK3 MPLKIP PIK3R1 RAG1 RAG2 RFX5 RFXANK RFXAP RNF113A SKIC2 SKIC3 SP110 TARS1 ZAP70 HP_PANHYPOPITUITARISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOPITUITARISM CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 GLI3 GRM7 HESX1 KATNIP LHX3 LHX4 MADD NODAL PLCH1 POU1F1 PROP1 PTCH1 RNF113A SHH SIX3 SMC1A SOX3 STAG2 STIL SUFU TDGF1 TGIF1 ZIC2 HP_PANIC_ATTACK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANIC_ATTACK ATRX BRAF CDH23 CDKL5 CDKN2A CIZ1 CREBBP CTNNB1 DLST DNAJC6 DNMT3A DRD2 EP300 EPAS1 FH GABBR2 HTRA2 KCNN2 KCTD17 KIF1B LRRK2 MAX MDH2 MECP2 NF1 NR3C1 NTNG1 PARK7 PINK1 PODXL PRKAR1A PRKN RET SDHA SDHAF2 SDHB SDHC SDHD SGCE SLC25A11 SMC1A SNCA SPART SPECC1L SYNJ1 TERT TMEM127 TOR1A TP53 UCHL1 USP48 USP8 VHL VPS13C ZNRF3 HP_PANNICULITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANNICULITIS ADA2 ADAR CASP10 FAS FASLG G6PC3 HAVCR2 IFIH1 IKBKG KIF11 LCK LSM11 MEFV MYSM1 OTULIN PRKCD PSMB4 PSMB8 PSMB9 PSMG2 RASGRP1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1 HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS CCND1 CREBBP EP300 HNF1B VHL HP_PAPILLARY_RENAL_CELL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_RENAL_CELL_CARCINOMA CDC73 FH FOXE1 HABP2 LMNA MET MINPP1 PRCC HP_PAPILLARY_THYROID_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_THYROID_CARCINOMA APC ARID1A ARID1B ARID2 DICER1 DPF2 FOXE1 HABP2 HRAS JAG1 MINPP1 NKX2-1 NRAS PDE11A PRKAR1A SEC23B SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SRGAP1 HP_PAPILLEDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLEDEMA AKT1 APC BAP1 BRAF CCND1 CTNNB1 FAM111A GBA1 IDS IFT172 IL11RA MMP14 MMP2 NF2 NLRP3 PDGFB PIK3CA SLC4A2 SMARCB1 SMARCE1 SMO SOST SUFU TERT TP53 TRAF7 UQCRFS1 VHL HP_PAPILLOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLOMA AKT1 ATP2A2 BLNK CARMIL2 CD4 CD79A CD79B CIB1 CXCR4 DCLRE1C DDB2 DOCK8 ECM1 ERCC2 ERCC3 ERCC4 ERCC5 FCN3 FLT4 GATA2 HRAS IGHM IGLL1 IKBKG IL7 IVNS1ABP KLLN LRRC8A MSH3 NRAS PIK3CA PIK3R1 PORCN PTEN RHOH SASH3 SDHB SDHC SDHD SEC23B SLC39A7 SPI1 STK4 TCF3 TMC6 TMC8 TP53 TPP2 USF3 XPA XPC HP_PAPULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPULE AAGAB ABCC6 AEBP1 AKT1 ANTXR2 AQP5 ATP2A2 BRAF C4A CARD14 CCR1 CFTR CIB1 CLEC7A COL14A1 COL1A1 COL5A1 COL5A2 COL7A1 CSTA CTLA4 CYLD DCLRE1C ECM1 EGFR ELOVL4 ERAP1 ERCC4 FAS FLCN FLNA GGCX GJB2 GJB6 GLMN GNAQ GNAS HAVCR2 HLA-B HLA-DPA1 HLA-DPB1 IDH1 IFNGR1 IL10 IL12A IL12A-AS1 IL17F IL17RA IL17RC IL23R IL6ST IL7 KIT KLLN KLRC4 KRT1 KRT14 KRT5 LDHA LMNA LPIN2 LRP1 MBTPS2 MEFV MVK NAGA NF1 NLRP3 NOD2 PEPD PIGA PIK3CA PLEC POFUT1 POGLUT1 PRTN3 PSENEN PTEN PTPN22 SDHB SDHC SDHD SEC23B SLC17A9 STAT3 STAT4 SUFU TGM5 TLR4 TMC6 TMC8 TRAF3IP2 UBAC2 USF3 XPA XYLT1 XYLT2 ZMPSTE24 HP_PARACENTRAL_SCOTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARACENTRAL_SCOTOMA ACO2 CFH CFI CYP4V2 EFEMP1 HKDC1 RLBP1 HP_PARADOXICAL_INCREASED_CORTISOL_SECRETION_ON_DEXAMETHASONE_SUPPRESSION_TEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARADOXICAL_INCREASED_CORTISOL_SECRETION_ON_DEXAMETHASONE_SUPPRESSION_TEST ARMC5 ATRX BRAF CDH23 CDKN2A CTNNB1 GNAS NR3C1 PDE11A PRKAR1A TERT TP53 USP48 USP8 ZNRF3 HP_PARAKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAKERATOSIS ATP2A2 CARD14 CDSN CLDN1 CYP4F22 DSP ELOVL1 ERCC6 FLG2 GLS IL36RN KRT10 KRT13 KRT5 KRT74 LDHA LORICRIN MBTPS2 MVD MVK NIPAL4 NLRP1 NSDHL PERP PIK3CA PMVK POMP RHBDF2 SPINK5 TGM1 TRPM4 TRPV3 HP_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARALYSIS ABCB6 ACTB ADCY6 ADGRG1 ALAD ALDH18A1 ALOX12B ALOXE3 ALS2 ANG ANXA11 ATP1A2 ATXN2 ATXN3 B4GALNT1 BAG3 BCHE CA2 CACNA1A CACNA1S CAMK2B CCNF CD59 CDH23 CFAP410 CHCHD10 CHMP2B CLCN7 CLCNKB CNTNAP1 COL4A1 CPOX CYP27A1 DAO DCTN1 DKK1 DLST DNMT3A DST EEF2 ELN EMD EPAS1 EPHA4 ERBB4 FAH FGFR1 FH FHL1 FIG4 FUS GAA GABRA3 GBA1 GDAP1 GIPC1 GLE1 GLT8D1 GM2A HAAO HK1 HMBS HNRNPA1 HSPB1 HSPB8 HTRA1 IGHMBP2 JAG1 KCNE3 KCNJ18 KCNJ2 KCNJ5 KIF1B KRAS LMNA LMNB1 LONP1 LRP12 MATR3 MAX MDH2 MEGF10 MFN2 MLXIPL MORC2 MTRFR MYCN MYH14 NEFH NEK1 NF1 NFU1 NONO NOTCH2NLC NOTCH3 NUS1 OPTN PDCD10 PFN1 PI4KA PMP22 POLA1 POLG PON1 PON2 PON3 PPARGC1A PPOX PRPH PRRT2 PRX RARS1 REEP1 RET RILPL1 SBF2 SCN1A SCN4A SDHA SDHAF2 SDHB SDHC SDHD SEC31A SETBP1 SH3TC2 SLC12A3 SLC25A11 SLC25A19 SLC2A1 SLC52A3 SLC5A7 SOD1 SQSTM1 SRPX2 SYNE1 SYNE2 TAF15 TARDBP TBK1 TCIRG1 TGM6 TMEM127 TMEM43 TNFSF11 TNNC2 TPI1 TRAPPC12 TREM2 TRIM2 TRPM7 TRPV4 UBQLN2 UNC13A VAPB VCP VHL ZFYVE26 ZNF699 HP_PARANOIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARANOIA ATRX BRAF CDH23 CPOX DGCR2 DGCR6 DGCR8 ECM1 ESS2 FMO3 HMBS IMPA1 NR3C1 PLA2G6 PPOX PRDM8 SNCA TBP TBX1 TIMM8A TP53 USP48 USP8 VPS13A HP_PARAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPARESIS ABCD1 ADAR ADGRG1 AFG3L2 AIMP1 ALDH3A2 AP5Z1 ARG1 ASAH1 ATP13A2 ATP5F1A ATP6AP2 BCOR BTD C9orf72 CCDC88C CHCHD10 CLTC COASY CPT1C CYP27A1 EDNRB FA2H FAR1 FUS GALC GAMT GBA1 GFAP GJA1 GJB1 GJC2 GOT2 IDUA IFIH1 LSM11 MAG MED13L MICOS13 MTHFR MTPAP MTRFR NF1 OPA3 PEX16 PI4KA PLP1 PNP POLG POLR3GL PPP1R15B PRPS1 PRUNE1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHA SDHAF1 SDHB SDHD SELENOI SLC19A3 SLC25A15 SLC30A10 SOX10 SP110 SPART SPG11 SPG21 SPG7 SQSTM1 SRPX2 TARDBP TBCE TBK1 TNFRSF11A TREX1 TRMT10A TTC19 TTR VCP WDR45 HP_PARAPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA ABCA12 ABCD1 ABHD16A AIFM1 ALDH18A1 ALS2 AMFR AMPD2 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1 ARSI ATL1 ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATPAF1 ATPAF2 ATRX B3GALT6 B4GALNT1 BSCL2 C19orf12 CACNA1D CAPN1 CCDC141 CCT5 CHD7 CKAP2L CPT1C CYP2U1 CYP7B1 DCC DDHD1 DDHD2 DNM1L DSTYK DUSP6 ELOVL1 ENTPD1 ERLIN2 FA2H FARS2 FEZF1 FGF17 FGF8 FGFR1 FLRT1 FLRT3 GAN GBA1 GBA2 GBE1 GIPC1 GJC2 GPT2 HACE1 HESX1 HPDL HS6ST1 HSPD1 IBA57 IL17RD INTS8 KDM5C KIDINS220 KIF1A KIF5A KLC2 KPNA3 KY L1CAM LAMB1 LRP12 LYST MAG MAN2B1 MARS1 MECP2 MT-ATP6 MT-ATP8 MTRFR NAGS NDNF NIPA1 NOTCH2NLC NT5C2 OPA1 PAH PAX3 PDHX PEX3 PGAP1 PI4KA PLP1 PNPLA6 PROK2 PROKR2 RAB3GAP2 RASA1 REEP1 REEP2 RILPL1 RNASEH2B RNF170 RNF220 RTN2 SAMD9 SELENOI SEMA3A SETX SLC16A2 SLC25A15 SLC2A1 SLC33A1 SOX10 SP110 SPART SPAST SPG11 SPG21 SPG7 SPRY4 STXBP1 TACR3 TECPR2 TFG TOE1 TTR UBAP1 UCHL1 USP8 VAMP1 VCP VPS37A WASHC5 WDR11 WDR45B WDR48 ZFR ZFYVE26 ZFYVE27 HP_PARAPLEGIA_PARAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA_PARAPARESIS AARS1 ABCA12 ABCD1 ABHD16A ADAR ADGRG1 AFG3L2 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALS2 AMFR AMPD2 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARG1 ARL6IP1 ARSI ASAH1 ATL1 ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATPAF1 ATPAF2 ATRX B3GALT6 B4GALNT1 BCOR BSCL2 BTD C19orf12 C9orf72 CACNA1D CAPN1 CARS1 CCDC141 CCDC88C CCT5 CHCHD10 CHD7 CKAP2L CLTC COASY CPT1C CYP27A1 CYP2U1 CYP7B1 DCC DDHD1 DDHD2 DNM1L DSTYK DUSP6 EDNRB ELOVL1 ENTPD1 ERCC2 ERCC3 ERLIN2 FA2H FAR1 FARS2 FEZF1 FGF17 FGF8 FGFR1 FLRT1 FLRT3 FUS GALC GAMT GAN GBA1 GBA2 GBE1 GFAP GIPC1 GJA1 GJB1 GJC2 GOT2 GPT2 GTF2E2 GTF2H5 HACE1 HESX1 HPDL HS6ST1 HSPD1 IBA57 IDUA IFIH1 IL17RD INTS8 KDM5C KIDINS220 KIF1A KIF5A KLC2 KPNA3 KY L1CAM LAMB1 LRP12 LSM11 LYST MAG MAN2B1 MARS1 MECP2 MED13L MICOS13 MPLKIP MT-ATP6 MT-ATP8 MTHFR MTPAP MTRFR NAGS NDNF NF1 NIPA1 NOTCH2NLC NT5C2 OPA1 OPA3 PAH PAX3 PDHX PEX16 PEX3 PGAP1 PI4KA PLP1 PNP PNPLA6 POLG POLR3GL PPP1R15B PROK2 PROKR2 PRPS1 PRUNE1 RAB3GAP2 RASA1 REEP1 REEP2 RILPL1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF170 RNF220 RNU7-1 RTN2 SAMD9 SAMHD1 SDHA SDHAF1 SDHB SDHD SELENOI SEMA3A SETX SLC16A2 SLC19A3 SLC25A15 SLC2A1 SLC30A10 SLC33A1 SOX10 SP110 SPART SPAST SPG11 SPG21 SPG7 SPRY4 SQSTM1 SRPX2 STXBP1 TACR3 TARDBP TARS1 TBCE TBK1 TECPR2 TFG TNFRSF11A TOE1 TREX1 TRMT10A TTC19 TTR UBAP1 UCHL1 USP8 VAMP1 VCP VPS37A WASHC5 WDR11 WDR45 WDR45B WDR48 ZFR ZFYVE26 ZFYVE27 HP_PARASOMNIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARASOMNIA CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 KCNT1 MAGEL2 MTFMT SIM1 SLC25A13 SMO TFAP2B HP_PARATHYROID_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_ADENOMA CASR CDC73 CDKN1B CLCNKB FLCN GCM2 IDH1 IDH2 IFNG MEN1 NF1 RET SLC12A3 TSC1 TSC2 HP_PARATHYROID_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_CARCINOMA CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GCM2 MEN1 HP_PARATHYROID_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_HYPERPLASIA CDKN1A CDKN1B CDKN2B CDKN2C IFNG KL MEN1 RET TSC1 TSC2 HP_PARESIS_OF_EXTENSOR_MUSCLES_OF_THE_BIG_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESIS_OF_EXTENSOR_MUSCLES_OF_THE_BIG_TOE GCH1 HSPB1 HSPB8 IMPDH2 MFN2 NR4A2 HP_PARESTHESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESTHESIA AIP ALAD APP ATL1 ATP1A2 ATXN1 BMPR1A C4A CACNA1A CALR CASR CBLIF CCND1 CCR1 CLCNKB COMP COQ6 CTDP1 CUBN DEPDC5 EPCAM ERAP1 FAN1 FAS GABRG2 GALC GATA1 GBE1 GLA GNA11 GNA14 GNAS GPR101 GRIN2A HEXB HINT1 HLA-B HLA-DQB1 HLA-DRB1 HMBS HPDL IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST JAK2 KCNJ1 KIF5A KLRC4 KRAS KRT14 KRT5 LIFR LIG3 LITAF LMX1B LZTR1 MEFV MEN1 MFN2 MLH1 MLH3 MPL MSH2 MSH6 MTHFR NAGA NAGLU NEFL NF2 NPRL2 NPRL3 OPA3 P4HA2 PDCD1 PIK3CA PMP22 PMS1 PMS2 POLG PRNP PRRT2 PTPN22 RPS20 RRM2B SBF2 SCN1A SCN4A SCN9A SCYL1 SEMA4A SEPTIN9 SERPING1 SH2B3 SLC12A1 SLC12A3 SLC19A2 SLC26A2 SLC2A1 SMARCB1 SPTLC2 SRPX2 STAT4 STX16 TET2 TGFBR2 THPO TK2 TLR4 TNFRSF1A TP53 TRAPPC2 TRIM32 TYMP UBAC2 UROD UROS VCP VWA1 YY1 HP_PARIETAL_BOSSING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_BOSSING FGFR3 FIG4 KRAS MPDU1 POLR3A PTCH1 PTPN11 RUNX2 HP_PARIETAL_CORTICAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_CORTICAL_ATROPHY MAGEL2 NDN OCA2 SACS SCYL2 SNRPN STUB1 TMEM147 HP_PARIETAL_FORAMINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_FORAMINA ALX4 CREBBP EP300 EXT2 FGFR2 MSX2 PHF21A PPM1D RNU12 RPS19 TWIST1 ZIC1 ZSWIM6 HP_PARKINSONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM ABCA7 ADH1C AFG3L2 ALS2 AOPEP AP5Z1 APOE APP ATN1 ATP13A2 ATP1A3 ATP6AP2 ATP7B ATXN2 ATXN3 ATXN8OS C19orf12 C9orf72 CAT CHCHD10 CHCHD2 CHMP2B CLN3 COASY COQ2 CP CSF1R CYP27A1 DCTN1 DNAJC12 DNAJC13 DNAJC5 DNAJC6 EIF2AK2 EIF4G1 FBXO7 FMR1 FTL FUS GABRA1 GABRG2 GBA1 GCH1 GIGYF2 GLUD2 GRN HTRA2 IMPDH2 JAM2 JPH3 KCNN2 KIF5A LRRK2 LYST MAPT MECP2 MPO MT-TT MYORG NOS3 NOTCH3 NR4A2 PANK2 PARK7 PCBD1 PCDH19 PDE10A PDGFB PDGFRB PINK1 PLA2G6 PLAU POLG PPP2R2B PRKAR1B PRKN PRKRA PRNP PSAP PSEN1 PSEN2 PTS RAB39B SCN1A SCN1B SCN2A SCN9A SIGMAR1 SLC18A2 SLC20A2 SLC30A10 SLC39A14 SLC6A3 SNCA SNCAIP SNCB SORL1 SPG11 SPTLC1 SQSTM1 STUB1 SYNJ1 TAF1 TARDBP TBK1 TBP TH TK2 TMEM106B TMEM240 TNR TOMM40 TREM2 TRPM7 TSPOAP1 TWNK UBTF UCHL1 UQCRC1 VCP VPS13A VPS13C VPS35 WARS2 WDR45 XPR1 HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION ATP13A2 ATP7B CHCHD2 DNAJC13 EIF4G1 FBXO7 GBA1 GCH1 GIGYF2 HTRA2 LRRK2 MAPT PARK7 PDE10A PLA2G6 POLG PSAP RAB39B SNCA TAF1 TH TK2 UCHL1 UQCRC1 VPS35 HP_PARONYCHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARONYCHIA ADAM17 BLM CEBPE IL6ST KIF1A KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB3 LAMC2 RETREG1 SCN9A SLC39A4 STAT3 WNK1 HP_PAROXYSMAL_ATRIAL_FIBRILLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_ATRIAL_FIBRILLATION ABCC9 CASQ2 CSRP3 GJA5 GNB2 HCN4 KCNA5 KCNE2 KCNH2 KCNJ2 KCNQ1 LMNA LRP12 MYL4 PLN PRKAG2 RYR2 SCN1B SCN2B SCN3B SCN5A TBX5 TRDN HP_PAROXYSMAL_BURSTS_OF_LAUGHTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER ATRX GLI3 GRIK2 HSD17B10 MBD5 NTNG2 SNRPN TELO2 UBE3A WDR4 HP_PAROXYSMAL_DYSKINESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSKINESIA ADCY5 ATP1A2 ATP1A3 CACNA1A GRIN1 KCNMA1 MECR PDE2A PNKD PRRT2 SCN8A SH2B1 SLC1A3 SLC2A1 HP_PAROXYSMAL_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSTONIA CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 DLAT FARS2 KCNT1 PNKD PRDM13 PRRT2 RHOBTB2 SEPSECS SLC2A1 TBC1D24 TSEN15 TSEN2 TSEN34 TSEN54 HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS ABCA4 CNGB3 ELOVL4 FOXRED1 MT-ND1 MT-ND2 MT-ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NKX6-2 NUBPL PROM1 PRPH2 PSAT1 SLC2A1 SLC35A2 TIMMDC1 TMEM126B HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA ABCC9 AKAP9 CACNA1C CACNA2D1 CACNB2 GNAI2 GPD1L GYG1 HCN4 JUP KCND3 KCNE3 KCNE5 KCNJ8 LMOD2 PKP2 RANGRF SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TECRL TRPM4 HP_PARTIAL_ABSENCE_OF_CEREBELLAR_VERMIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_CEREBELLAR_VERMIS OPHN1 PACS1 PIGN PLCH1 POMT2 HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE CD70 CTPS1 REL RIPK1 TCF3 HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE CD19 CR2 ICOS SASH3 TNFRSF13B TNFRSF13C HP_PARTIAL_ABSENCE_OF_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_THUMB FANCD2 FGFR2 FIG4 LMBR1 SHH TRIO VAC14 XRCC2 HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM AARS1 AMER1 ARID1B C2CD3 CARS1 CDC40 CDK5RAP2 CENPE CLCN3 CRPPA DDX3X DHCR24 DHCR7 ERCC2 ERCC3 FRA10AC1 FRMD4A GLI2 GPSM2 GTF2E2 GTF2H5 HECTD4 KAT5 KATNB1 KDM5B KIDINS220 L1CAM LONP1 LRP2 LRPPRC LRRC32 MAN2C1 MDH1 MED12 MPLKIP MRPS25 NSD1 OSTM1 PDHA1 PDHX PLCH1 PLK4 PTCH1 RNF113A RNU4ATAC ROBO1 SLC25A19 SUPT16H TARS1 TCF12 TMEM260 TNR TRAPPC12 TUBA1A TUBB TUBB2B TUBB3 WDR4 HP_PARTIAL_ALBINISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ALBINISM KIT LAMTOR2 MITF MLPH MYO5A PAX3 RAB27A TYRP1 HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN CIROP FOXF1 GATA1 MED12 MYRF NODAL SMAD2 SMC1A TMEM260 WT1 HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND CANT1 FGFR2 KIF7 PAH PPP2R3C TWIST1 HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND ADA2 CANT1 CHSY1 DACT1 DVL1 FANCD2 FGF10 FGFR2 GATA1 GLI1 HEATR3 INTU KIF7 NUP107 PAH PPP2R3C RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL1 SF3B2 TBX5 TSR2 TWIST1 HP_PAST_MEDICAL_HISTORY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAST_MEDICAL_HISTORY ABCC8 ARNT2 CDON CLCNKB COL2A1 CTRC DISP1 DLL1 FCGR3B FGF8 FGFR1 FOXH1 FUZ GAS1 GJA1 GLI2 HESX1 HNF1A HYMAI KCNJ11 MTHFR NAA10 NKX2-5 NODAL NUAK2 OTX2 PAH PLAGL1 PPARG PROKR2 PTCH1 SHH SIX3 SLC12A3 SOX2 SOX3 SPINK1 SUFU TDGF1 TGIF1 VANGL1 VANGL2 ZFP57 ZIC2 HP_PATCHY_ALOPECIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_ALOPECIA BLM COL17A1 DSG4 EBP ECM1 EXOSC2 HR HRAS IKBKG IL2RA ITGB4 KCTD1 KDM5C KRT81 KRT83 KRT86 LAMB3 LMNA NECTIN4 PADI3 PORCN TGM3 TP63 TRAC ZMPSTE24 HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY GJA1 LBR MTAP SQSTM1 TBCE HP_PATCHY_HYPOPIGMENTATION_OF_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR CHN1 EDN3 EDNRB FAS HRAS KIT KITLG LMNA MAFB MITF PAX3 PEPD PTPN22 SALL4 SNAI2 SOX10 TERT TFAP2A TMCO1 TYR WRN HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS DSP GJA1 GJB3 GJB4 KDSR TRPV3 HP_PATELLAR_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_APLASIA ANAPC1 BHLHA9 CDC45 CDC6 CDT1 CHRNG DONSON ESCO2 GMNN KAT6B LMBR1 LMX1B ORC1 ORC4 ORC6 RBM8A RECQL4 SHH SHOX STXBP1 TBX4 WNT7A HP_PATELLAR_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_DISLOCATION ARF1 ARFGEF2 ARVCF BAZ1B BCL7B BPNT2 BUD23 CANT1 CHST11 CLIP2 COL1A1 COL5A1 COL5A2 COMT CREBBP CSGALNACT1 DNAJC30 EBP EIF4H ELN EP300 ERMARD EXOC6B FBN2 FKBP6 FLNA FLNB FZD2 GDF5 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA JMJD1C KAT6B LIMK1 LMX1B MAB21L2 MAP1B METTL27 MLXIPL NCF1 NEDD4L NOTCH2 OCRL PIEZO2 PKDCC PLOD1 PRKACB RBM8A RFC2 RNU4ATAC RREB1 RYR1 SEC24C SLC26A2 STX1A STXBP1 TBL2 TBX1 TBX4 TMEM270 TMTC3 UFD1 VPS37D XYLT1 YY1 HP_PATELLAR_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_HYPOPLASIA ANAPC1 DONSON GJB2 GJB6 LMX1B ORC6 PITX1 PRMT7 RECQL4 SOX9 STXBP1 TBX4 UBR7 ZSWIM6 HP_PATELLAR_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_SUBLUXATION COL12A1 DNMT3A FBN2 TBC1D7 USP9X YY1 HP_PATENT_DUCTUS_ARTERIOSUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_DUCTUS_ARTERIOSUS ABCC9 ABCD4 ACSL4 ACTA2 ACTB ADAMTS10 ADAT3 AFF4 AGGF1 AGO2 ALB ALG12 ALG8 AMER1 AMMECR1 ANK1 ANKS6 APC2 ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARL6IP6 ARSL ARVCF ARX ASCC1 ASXL2 B3GLCT BAZ1B BCL7B BCOR BMPR1A BPTF BRAF BRCA1 BRCA2 BRIP1 BUD23 C2CD3 CACNA1C CADM3 CALM3 CASZ1 CCDC22 CCDC47 CD96 CDC42 CDC42BPB CEP120 CHD4 CHD7 CHRM3 CIROP CLIP2 COA6 COG6 COL18A1 COMT COQ4 CREBBP CSGALNACT1 CTCF CTU2 CUX1 DACT1 DDX3X DHCR24 DHCR7 DMPK DNAH9 DNAJC30 DNMT3A DPF2 DPM1 DTNA DVL3 DYNC2LI1 DYRK1A ECE1 EED EIF4H ELN EOGT EP300 ERCC4 ERMARD ESCO2 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FGF10 FGFR2 FGFR3 FKBP14 FKBP6 FLNA FOCAD FOXC1 FOXC2 FOXE3 FOXF1 FOXP2 FRA10AC1 FTO FUT8 G6PC3 GABRD GATA1 GATA4 GATA6 GJA1 GJA5 GJA8 GLB1 GLI3 GLYCTK GNA11 GP1BB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HDAC4 HEY2 HIRA HPGD HSPG2 HTRA2 HYMAI IFT27 IGBP1 IGF2 IPO8 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNN3 KMT2A KMT2B KRAS KYNU LARS2 LIMK1 LMBRD1 LMNA LMX1B LOX LUZP1 LZTR1 MAD2L2 MAF MAP1B MAP2K1 MAP3K7 MAPKAPK5 MASP1 MAT2A MCTP2 MED11 MED12 MEGF8 METTL27 MFAP5 MGAT2 MID1 MKKS MKS1 MLXIPL MMP23B MRPS16 MYCN MYH11 MYH7 MYLK MYOCD MYRF NAA10 NAA20 NADSYN1 NCAPG2 NCF1 NEDD4L NFIX NKX2-5 NKX2-6 NODAL NONO NOTCH2 NOTCH3 NPHP3 NSD1 OCLN PACS1 PAK2 PALB2 PCGF2 PCNT PDPN PEX1 PEX19 PHGDH PIGA PIGN PIGT PLAGL1 PLCB3 PLXND1 POGZ POLR1A POLR1B POLR1C POLR1D PORCN PPFIBP1 PPP1CB PRDM13 PRDM16 PRDM6 PRIM1 PRKCZ PRKG1 PSMD12 PTEN PTPN11 PUF60 RAB23 RAC1 RAD51 RAD51C RBM8A RBP4 RERE RFC2 RFWD3 RIT1 RPL11 RPL5 RPS26 RREB1 RSPRY1 SALL1 SALL4 SAMD9 SEC24C SEMA3E SETD2 SF3B2 SF3B4 SHANK3 SIK3 SIX6 SKI SKIC2 SKIC3 SLC25A24 SLC29A3 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SMC5 SNRPB SNRPN SNX14 SON SOX11 SOX2 SOX4 SPECC1L SPEN SSR4 STAG2 STRA6 STX1A STXBP1 SUCLG1 SUPT16H TALDO1 TBC1D24 TBL2 TBX1 TBX2 TBX4 TBX5 TCOF1 TFAP2B TGFB2 TGFB3 TGFBR1 TGFBR2 THOC6 THSD1 THSD4 TKT TMCO1 TMEM270 TMEM94 TMTC3 TP63 TRAF7 TRIO TRIP11 TRIP4 TRPV6 TRRAP TSFM TTC26 TWIST1 UBE2A UBE2T UBE4B UBR7 UFC1 UFD1 UMPS USP18 USP9X VPS33A VPS37D WAC WDPCP WDR35 WDR37 WLS WT1 XRCC2 YY1AP1 ZBTB7A ZEB2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF699 HP_PATENT_DUCTUS_ARTERIOSUS_AFTER_BIRTH_AT_TERM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_DUCTUS_ARTERIOSUS_AFTER_BIRTH_AT_TERM BPTF CALM3 FOXP2 PSMD12 SON HP_PATENT_FORAMEN_OVALE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_FORAMEN_OVALE ACADVL AFF4 AGO2 ALG12 AMMECR1 ANAPC7 ASCC1 ATN1 ATP6V1E1 B3GAT3 BICRA CACNA1C CACNA1D CCNQ CDC42BPB CDK8 CHMP1A CHST3 CIROP COL11A1 CREBBP CSGALNACT1 DDX6 DNA2 DPF2 DSE DVL3 EP300 FANCI FBXW11 FIG4 FLCN FLNA FOCAD FOXF1 FRA10AC1 GATA1 GATA6 GNB5 GNPTAB HACD1 HSPA9 IGF1R IPO8 KATNB1 KDM1A KMT2D KRAS LMNB1 LTBP4 MAP3K7 MED11 MED12 MED13L MID1 MRPL3 MTX2 NAA10 NCAPG2 NDE1 NF1 NKX2-1 NKX2-5 NONO NOTCH1 OCLN PACS1 PHGDH PIGN PKDCC PLD1 POGZ PPP1CB PPP2R5D PRIM1 PRR12 RAC1 RAI1 RELN RERE RIPK4 RNU4ATAC ROBO1 RPL3L RSPRY1 SCUBE3 SDHD SETD1A SH3PXD2B SMAD6 SMG8 SNRPN STAG2 STAMBP STAT1 STK4 SUCLG1 TALDO1 TASP1 TBX20 TGFB3 THSD1 TKT TMEM147 TMEM94 TOM1 TRIP4 TRRAP TSFM TTC26 TWIST1 UBE2A UBR7 UFC1 VPS33A VPS33B WDR35 WDR37 WLS YY1 ZIC3 ZNF699 HP_PATHOLOGIC_FRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATHOLOGIC_FRACTURE AGA AGXT ALPL ASXL1 ATL1 ATL3 ATP7B B2M B3GALT6 BANF1 CBL CCND1 CHEK2 CTC1 EFEMP2 FBLN5 GBA1 GK GNAS GNPTAB HNRNPA1 HNRNPA2B1 IER3IP1 LIFR LRP5 LTBP1 MET MTAP NOTCH2 OCRL PLOD3 PTH1R RB1 RECQL4 RUNX1 SC5D SCARB2 SLC34A1 SLC34A3 SLC4A1 SLC4A2 SLC7A7 SMPD1 SPTLC1 SPTLC2 SRSF2 TCIRG1 TET2 TNFRSF11A TP53 TREM2 TYROBP UROS VCP HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA ALX1 ALX3 MYMK MYMX PLXND1 REV3L SALL4 TBX3 TBX5 HP_PECTUS_CARINATUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_CARINATUM ACP5 ACTB AGA AGRN AP1G1 ARL3 ARSB ASH1L ATAD3A ATP2B1 ATP7A B3GALT6 B3GAT3 B4GALT7 BGN BMP1 BMP2 BRAF CBL CBS CHAT CHRM3 CHST3 COG4 COL11A2 COL13A1 COL2A1 CSF1R DDR2 DVL1 DVL3 DYM EVC EVC2 FAM149B1 FBN1 FBN2 FGFR2 FKBP10 FLNB FN1 FZD2 G6PC3 GALNS GLB1 GNPTG GORAB GPC3 GPC4 GTPBP2 GUSB GZF1 HBA1 HBA2 HDAC4 HNRNPH1 HNRNPH2 HRAS HSPG2 HYOU1 IHH IL6ST INPP5K IPO8 KANSL1 KIF7 KRAS KRT5 LGI3 LZTR1 MAN1B1 MAN2B1 MAP2K1 MARS2 MBTPS1 MBTPS2 MED25 MEGF8 MFAP5 MME MRAS MYF5 MYH3 MYO9A NALCN NEK1 NEU1 NF1 NKAP NKX3-2 NOTCH2 NRAS NXN OBSL1 ORC1 PCGF2 PIEZO2 PIGS PLAA PLEKHM1 PLOD2 PPIB PPP1CB PPP1R21 PTF1A PTPN11 PYCR1 PYCR2 RAB33B RAB3GAP2 RAD21 RAF1 RASA2 RIT1 RMRP RNF135 ROR2 RPS6KA3 RRAS RRAS2 SIL1 SKI SLC12A2 SLC18A3 SLC25A1 SLC2A10 SLC37A4 SLC5A7 SMAD3 SMS SNAP25 SNX14 SOS1 SOS2 SOX5 SOX9 SP7 SPRED2 SYT2 TBCD TBX3 TBX6 TELO2 TGDS TGFB3 TGFBR1 TGFBR2 TNFRSF11A TNFRSF11B TNNT1 TOE1 TRIP11 TRPS1 TRPV4 UBTF UCHL1 UPF3B VAMP1 VPS33A VPS37A WNT5A WNT7A XYLT1 XYLT2 ZDHHC9 ZEB2 ZNF668 HP_PECTUS_EXCAVATUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM ABL1 ACTA1 ACTB ADAMTSL2 ADGRG1 ADNP AEBP1 AKT1 ALDH18A1 AMER1 ANAPC7 AP1G1 APC2 ARID2 ASPH ASXL1 ATG7 ATP2B1 ATP6V0A2 ATP7A B3GALT6 B3GLCT BAZ1B BCL7B BCOR BCORL1 BICD2 BICRA BMP2 BRAF BRD4 BUD23 CA2 CBL CBS CCBE1 CCDC47 CD96 CDC42BPB CDH11 CFL2 CHRM3 CHRNG CHST11 CHST14 CLIP2 COG4 COL11A2 COL12A1 COL1A2 COL2A1 COL3A1 COL5A1 CREBBP CRTAP CSGALNACT1 CUL7 CUX1 DDR2 DHODH DICER1 DLK1 DNAJC30 DPF2 DVL1 DVL3 DYRK1A EFEMP2 EFNB1 EIF4H ELN EMD EP300 ERF EXTL3 FAM20C FARSB FBLN5 FBN1 FGD1 FGFR1 FGFR3 FHL1 FKBP6 FKTN FLNA FLNB FMR1 FZD2 GBA1 GDF11 GJA5 GJA8 GNB1 GNPTAB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 GUSB HACD1 HDAC8 HES7 HNRNPK HPGD HS2ST1 HSD17B4 HSPG2 HUWE1 IFT122 IFT43 IFT52 IGBP1 IGF1R IHH INPPL1 INTS1 IPO8 IRX5 ITCH ITGA7 KANSL1 KAT6A KDELR2 KDM5C KDM6B KIF7 KLHL41 KLLN KMT2A KRAS LIG4 LIMK1 LMBRD2 LMNA LMOD3 LMX1B LOX LRP4 LTBP1 LTBP2 LZTR1 MAF MAN2B1 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPRE2 MATN3 MBTPS2 MECP2 MED12 MEG3 MEGF10 MEGF8 MET METTL27 MFAP5 MGAT2 MLXIPL MRAS MSTO1 MTX2 MYF5 MYH3 MYL2 MYOD1 MYPN NAA10 NARS1 NCF1 NEB NEPRO NF1 NFIX NHLRC2 NIPBL NKAP NOG NOTCH3 NPR3 NRAS NSD1 NSUN2 NUP107 NXN OSGEP PACS1 PCGF2 PDHX PGAP2 PGAP3 PI4KA PIEZO1 PIEZO2 PIGL PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PIK3CA PLOD1 PLXND1 POLR2A PPIB PPP1CB PPP1R15B PPP2R1A PQBP1 PROKR2 PRR12 PTCH1 PTEN PTPN11 PUF60 PYCR1 PYROXD1 RAB3GAP2 RAB5IF RAD21 RAF1 RASA2 RBM10 RET RFC2 RIN2 RIT1 ROR2 RPS6KA3 RRAS RRAS2 RTL1 SCARF2 SCN4A SDHB SDHC SDHD SEC23B SEC24D SELENON SETD2 SH3PXD2B SHOC2 SIK3 SKI SLC16A2 SLC2A10 SLC37A4 SLC9A6 SMAD3 SMC1A SMC3 SMS SOS1 SOS2 SOX10 SPECC1L SPRED1 SPRED2 SPRTN SRPX2 SRY STX1A SYNE1 SYNE2 TAF1 TBCD TBCK TBL2 TBX5 TCTN3 TELO2 TGDS TGFB3 TGFBR1 TGFBR2 THSD4 TMCO1 TMEM231 TMEM270 TMEM43 TMEM94 TPM2 TPM3 TRIO TRIP4 TRMT10A TRPM3 TUBB UPF3B USF3 VPS13B VPS33A VPS37D WBP11 WDR11 WDR19 WDR35 WNT5A XYLT1 ZBTB20 ZDHHC9 ZEB2 ZMIZ1 HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM BRAF MAP2K1 NF1 PTPN11 SOS1 HP_PEDAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEDAL_EDEMA ACTC1 ALB ANGPT2 AP1S3 APC2 ATP7B ATRX BRAF CDH23 CITED2 COL2A1 EIF2AK4 EPHB4 FIBP FLT4 FN1 GATA4 GATA6 GBA1 GJC2 IKBKG IL36RN IRF4 KIF1A MAGEL2 MEFV MKKS MYD88 MYH6 NDN NFKBIA NKX2-5 NR3C1 NSD1 OCA2 PIEZO1 PLAA PRKAR1A RBM8A RNF13 SCARB2 SETD2 SNRPN TBX20 TGM1 TIE1 TLL1 TP53 USP48 USP8 VEGFC ZNHIT3 HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS ARHGAP29 ARHGEF38 AXIN2 BMP4 CDH1 COBLL1 DLG1 DLX4 EDA EDARADD FGF3 FGFR1 IRF6 KAT6A LRP6 MSX1 NECTIN1 NEK1 PAX9 PDGFRA RIC1 SUMO1 TGFA TP63 WNT10A WNT10B HP_PELVIC_GIRDLE_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_AMYOTROPHY CAPN3 GYG1 SMN1 SMN2 VCP HP_PELVIC_GIRDLE_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_MUSCLE_ATROPHY ANO5 LMNA SGCB TRIM32 VCP HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS ACTA1 AGRN AK9 ANO5 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 CRYAB DGUOK DNA2 DNAJB6 DOK7 DPM3 DYSF FKRP FLNC GNE GYG1 HACD1 HNRNPDL ITGA7 LRP4 MAP3K20 MT-TE MUSK MYH7 MYL2 MYOT PHKA1 PHKB PLEC PNPLA2 RAPSN RYR1 SCN4A SELENON SGCB SMCHD1 SMN1 SMN2 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TTN VCP HP_PELVIC_KIDNEY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_KIDNEY BAZ1B BCL7B BUD23 CCNQ CLIP2 DDX6 DNAJC30 DYRK1A EIF4H ELN FANCD2 FANCF FGFR1 FKBP6 GNB2 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 PUF60 RAD51 RFC2 RTTN SLX4 STRA6 STX1A TBL2 TMEM270 VPS37D WAC ZEB2 ZMYM2 HP_PENDULAR_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENDULAR_NYSTAGMUS ADAR AIPL1 ARHGEF2 ATF6 ATOH7 ATP1A2 BLOC1S3 CACNA1A CARS1 CLTCL1 CNGA3 CNGB3 CNNM4 CRX DLAT DNMBP FRMD7 GFAP GNAT2 HMGB3 LRP5 MT-ATP6 NT5C2 NUP54 NUP62 OPN1LW OPN1MW OPN1SW P4HTM PDE6C PDE6H PEX2 PLA2G6 PLP1 PRRT2 RARS1 RPGR RPGRIP1 SCN1A SDHD TBL1XR1 TENM3 TMEM106B TMEM231 TMEM63A HP_PENETRATING_FOOT_ULCERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENETRATING_FOOT_ULCERS ATL1 ATL3 F12 SBF2 SPTLC1 SPTLC2 HP_PENILE_FRECKLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENILE_FRECKLING HEPACAM KRT5 POFUT1 POGLUT1 PSENEN PTEN HP_PENOSCROTAL_HYPOSPADIAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENOSCROTAL_HYPOSPADIAS ARCN1 CDH11 COLEC10 DHCR7 HSD3B2 IGF2 MAMLD1 MTM1 MYRF NR5A1 SRY HP_PEPTIC_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEPTIC_ULCER AP2S1 ARID1B ASXL1 BAZ1B BCL7B BUD23 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CISD2 CLIP2 DNAJC30 EIF4H ELN FKBP6 GBA1 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HPGD KIT LIMK1 MEN1 METTL27 MLXIPL NCF1 PLA2G4A RFC2 SLCO2A1 SRSF2 STX1A TBL2 TET2 TMEM270 VPS37D WFS1 HP_PERCUSSION_MYOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERCUSSION_MYOTONIA ATP2A1 CAV3 CAVIN1 CLCN1 COX11 DNAJB6 HINT1 HSPG2 SCN4A SVIL HP_PERIANAL_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIANAL_ABSCESS CYBC1 ELANE ELF4 G6PC3 IKZF3 IL10RA IL10RB MNX1 RIPK1 TGFB1 HP_PERIAURICULAR_SKIN_PITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIAURICULAR_SKIN_PITS ANK1 AUTS2 B3GLCT CITED2 CPLX1 CTBP1 DICER1 EDN1 EDNRA EIF2AK3 EYA1 FGFR2 FGFRL1 FLNA FLT4 GATA4 GATA5 GATA6 GDF1 GJA5 GNAI3 GPC3 GPC4 GSC H4C9 HK1 HNRNPK JAG1 KAT6A KCNJ2 KDM6A KDR KMT2D LETM1 LRP1 MED12 MID1 MITF NKX2-5 NKX2-6 NPHP3 NSD2 PAX1 PLCB4 POLR1D PPP1CB RAB23 SALL1 SIX1 SPECC1L STAG2 SYK TBX1 TFAP2A TRPM3 UBE2A WBP11 XYLT2 ZFPM2 ZNF462 HP_PERICARDIAL_EFFUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDIAL_EFFUSION ABCC6 ABCC9 ACADVL ADAMTS3 AEBP1 ALG9 BLTP1 CALCRL CCBE1 CDH23 CLCNKB DNASE1L3 DPH5 EIF2AK4 ENPP1 EPHB4 FAT4 GBA1 HLA-DRB1 IFIH1 IRAK1 ITK LETM1 LMNA LYST MAF MCM10 MTO1 MYBPC3 MYRF PLVAP PMM2 PRKAG2 PTPN14 RNU7-1 SAT1 SCARB2 SLC12A3 SMAD4 SPP1 STAT4 TCTN2 TSC1 TSC2 UQCRFS1 HP_PERICARDITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDITIS C4A CCR1 CTLA4 DNASE1 ERAP1 FAS FCGR2A FCGR2B HBA1 HBA2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6 IRF4 KLRC4 LACC1 LCK MAF MEFV MIF NOD2 P4HA2 PMM2 PRG4 PRTN3 PTPN22 RNU7-1 STAT4 TLR4 TNFRSF1A TREX1 UBAC2 HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE AIRE CFH CFI EFEMP1 GUCA1A GUCY2D IFT172 KLHL7 MFSD8 PROM1 PRPF31 PRPF8 PRPH2 RAX2 TLCD3B TTLL5 HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT ALG8 ATRX BMP2 CALM3 CHD3 CITED2 COG7 CREBBP EP300 FH GATA6 GJA5 GJA8 MEIS2 MYH7 NAA10 NDUFB7 NDUFC2 NUP188 PUF60 RAD21 SEC31A THOC6 HP_PERINEAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINEAL_FISTULA CD3G CDK8 DACT1 ELF4 KDM6A KMT2D NCF4 PKP1 RECQL4 SALL1 SYK TCTN3 TGFB1 HP_PERINEAL_HYPOSPADIAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINEAL_HYPOSPADIAS AR DNAJC19 GATA4 HSD3B2 SRD5A2 HP_PERINUCLEAR_ANTINEUTROPHIL_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINUCLEAR_ANTINEUTROPHIL_ANTIBODY_POSITIVITY ARPC1B BACH2 CTNNB1 DEF6 DNASE1L3 HP_PERIODIC_HYPOKALEMIC_PARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_HYPOKALEMIC_PARESIS CA2 CACNA1S CDH23 GABRA3 KCNE3 KCNJ18 KCNJ2 KCNJ5 SCN4A HP_PERIODIC_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_PARALYSIS ABCB6 CA2 CACNA1S CDH23 FAH GABRA3 KCNE3 KCNJ18 KCNJ2 KCNJ5 SCN4A HP_PERIODONTITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODONTITIS AEBP1 AP3B1 C1R C1S CAT CLPB COL3A1 CTC1 CTSC CXCR4 DKC1 ELANE FERMT1 FGF3 GFI1 GORAB ITGB2 LYST MIA3 NHP2 NOP10 NOTCH2 NPM1 OCRL PARN PLG RTEL1 SLC35C1 SLC37A4 SRP19 SRP54 TCIRG1 TERC TERT TINF2 TYMS USB1 WRAP53 HP_PERIORBITAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_EDEMA ACTB ACTG1 ACTN4 ADAMTS2 AIP ANKFY1 ANLN ANTXR1 APOL1 ARHGAP24 ARHGDIA BAZ1B BCL7B BUD23 CAMTA1 CCBE1 CD2AP CDH11 CLIP2 COL1A1 COL4A3 COL5A1 COL5A2 COQ8B CRB2 CTLA4 DAAM2 DHX30 DNAJC30 DNMT3B DUX4 DUX4L1 EIF4H ELN EMP2 EPHB4 FKBP6 FOXG1 FRG1 FRMD4A GAPVD1 GNPTAB GPR101 GSN GTF2I GTF2IRD1 GTF2IRD2 HLA-DPA1 HLA-DPB1 IGSF3 INF2 KAT6A KCTD1 KIF1A KNSTRN KPTN LIMK1 LTBP4 MAGI2 MED12L METTL27 MLXIPL MYD88 MYO1E NCF1 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PEX2 PEX5 PIEZO1 PIK3CD PLCE1 POMP POU4F1 PRTN3 PSMB4 PSMB9 PSPH PTPN22 PTPRO RFC2 RIN2 SERPING1 SHANK3 SLC29A3 SLC35C1 SMCHD1 SNX14 SOX18 SPTBN1 STX1A SUMF1 TBC1D8B TBL2 TGFBI TMEM270 TNFRSF1A TRPC6 VPS37D WT1 XPNPEP2 ZNHIT3 HP_PERIORBITAL_FULLNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_FULLNESS ANKRD17 ARX ASXL3 CHD1 CLPB DOCK7 EDEM3 ELN FGFR2 FTSJ1 GATAD2B GNE H4C11 H4C3 H4C5 HRAS HS2ST1 KMT2B KMT2E MAB21L2 MAP3K7 MED13 MLXIPL NRAS NRCAM NSD2 PCGF2 PEX19 PLPBP PPP2CA RBL2 RBMX RPS23 SETD2 SPEN SRCAP TASP1 TRIO TUBB TWIST2 VPS33A WDR4 YY1 HP_PERIORBITAL_WRINKLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_WRINKLES CDH11 EDA EDAR EDARADD SMARCA2 HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY CFH CFI EFEMP1 NRL TEAD1 HP_PERIPHERAL_ARTERIAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIAL_STENOSIS ABCC6 ABCG5 ABCG8 ACTA2 AGXT APOB APOE ELN FBN1 FOXE3 HEY2 IDS JAK2 LDLR LDLRAP1 LMNA LOX MAT2A MFAP5 MPL MYH11 MYLK PCSK9 PRKG1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 THPO THSD4 HP_PERIPHERAL_ARTERIOVENOUS_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIOVENOUS_FISTULA ACVRL1 AGGF1 COL3A1 ENG EPHB4 GDF2 RASA1 SMAD4 HP_PERIPHERAL_AXONAL_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_AXONAL_DEGENERATION AAAS AARS1 ABCA1 ABCC8 ABCD1 ACOX1 ADPRS AFG3L2 AGTPBP1 AIFM1 ALDH18A1 AMPD2 APTX ASCC1 ATAD3A ATL1 ATL3 ATP11A ATP13A2 ATP1A3 ATXN3 BAG3 BIN1 BRAF C19orf12 CAPN1 CCT5 COA7 COASY COG8 COX20 CTDP1 CTSD CYP27A1 CYP2U1 DARS2 DCAF8 DDHD1 DGUOK DHX16 DNM2 DYNC1H1 ELOVL4 ELOVL5 ERBB2 ERCC6 ERCC8 EXOSC3 EXOSC8 EXOSC9 FBLN5 FGF14 FIG4 FLRT1 FLVCR1 FXN GAN GBA2 GBE1 GBF1 GCK GDAP1 GJB1 GJC2 GLE1 GMPPA GNB2 GNB4 HARS1 HEXB HINT1 HK1 HMBS HNRNPA1 HNRNPA2B1 HSPB1 HSPB8 IBA57 IFRD1 IGHMBP2 INF2 INS JPH1 KARS1 KCNJ10 KCNJ11 KCNK9 KIF1A KIF1B KIF5A KLC2 KLHL9 KPNA3 KRAS LAMA2 LIG3 LMNA LRSAM1 MARS1 MCM3AP MFN2 MICU1 MME MOCS1 MOCS2 MORC2 MPV17 MPZ MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTMR14 MTRFR MYF6 NAGA NDRG1 NEFH NEFL NEMF NGLY1 OPA1 PDX1 PEX10 PIEZO2 PIGB PIK3R5 PLA2G6 PLD3 PLEKHG4 PLOD1 PLXNA1 PMP22 PNPLA6 POLG POLG2 PRICKLE1 PRPS1 PSAP RAB7A REEP1 RETREG1 RFC1 RNF170 RNF220 RRM2B RYR1 SAMD9L SEPTIN9 SERPING1 SETX SH3TC2 SHMT2 SLC12A6 SLC25A19 SLC25A21 SLC25A4 SLC25A46 SPG11 SPG7 SPTBN4 SPTLC1 SPTLC2 STAT3 SURF1 SYNE1 TBCD TBCE TDP1 TFG TK2 TRAPPC11 TRIM2 TRIP4 TRPV4 TTC19 TTR TUBB3 TWNK TXN2 TYMP TYROBP UBQLN2 UBTF UCHL1 VCP VPS13A VPS13D VPS41 VRK1 VWA1 WARS1 WDR48 WFS1 XK XRCC4 YARS1 ZFYVE26 HP_PERIPHERAL_CYANOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_CYANOSIS ADAR AGXT COL1A1 COL5A1 COL5A2 ELP1 ETHE1 FUCA1 IFIH1 KCNQ2 KCNQ3 LSM11 MVK PAX3 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RPS6KA3 SAMHD1 SEPTIN9 TCF4 TREX1 HP_PERIPHERAL_DEMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_DEMYELINATION ABCA1 ARHGEF10 ARSA COQ7 CTDP1 DNM2 EGR2 FA2H FLVCR1 GALC GBF1 GCDH GDAP1 GNB4 HK1 KIF1C LITAF LMNB1 LRPPRC MAT1A MMACHC MOCS1 MOCS2 MPZ MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTTP NDRG1 NEFL PEX16 PLP1 PMP2 PMP22 PRPS1 PRX PSAP SBF2 SH3TC2 SOX10 SPTBN1 SUMF1 SURF1 TYROBP UBTF HP_PERIPHERAL_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_EDEMA EPHB4 FLNC FSHR KIF1A KIF20A MYPN PRKAG2 SLC34A2 TLL1 TNNI3 TNNT2 ZNHIT3 HP_PERIPHERAL_HYPERMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPERMYELINATION EGR2 MPZ MTMR2 NEFL PMP22 PRX SBF1 SBF2 SOX10 HP_PERIPHERAL_HYPOMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPOMYELINATION ADCY6 CTDP1 DHX16 EGR2 FGD4 FIG4 HK1 KCNJ10 SOX10 HP_PERIPHERAL_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_NEUROPATHY AAAS AARS1 ABCA1 ABCC8 ABCD1 ABHD12 ACER3 ACO2 ACOX1 ADA2 ADAR ADAT3 AFG3L2 AGRN AGTPBP1 AGXT AHCY AIFM1 ALAD ALDH18A1 ALDH4A1 ALS2 AMACR AMPD2 AP1B1 AP1S1 AP5Z1 APOA1 APTX AR ARL6IP1 ARSA ARSB ARSI ASCC1 ATAD3A ATL1 ATL3 ATP11A ATP13A2 ATP1A1 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATP7B ATPAF1 ATPAF2 ATXN1 ATXN10 ATXN3 ATXN8OS B2M B4GALNT1 BAG3 BIN1 BMP6 BRAF BRD4 BSCL2 BTNL2 C19orf12 CA2 CACNA1A CADM3 CAPN1 CARS1 CCT5 CD28 CD59 CHAT CISD2 CLCF1 CLCN6 CLP1 COA3 COA7 COA8 COASY COG8 COL13A1 COMP COQ7 COX20 COX6A1 CPOX CPSF3 CRAT CTDP1 CTLA4 CTSD CYP27A1 CYP2U1 CYP7B1 DARS2 DCAF8 DDB2 DDHD1 DEAF1 DEGS1 DGUOK DHH DHX16 DKK1 DMD DMXL2 DNAJC3 DNAJC30 DNASE1L3 DNM1L DNM2 DNMT1 DPM1 DST DSTYK DYNC1H1 EDNRB EGR2 ELOVL4 ELOVL5 ELP1 EMILIN1 ERBB2 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 EXOSC3 EXOSC8 EXOSC9 FA2H FAH FBLN5 FBN1 FDX2 FGA FGF14 FLII FLNC FLRT1 FMR1 FUCA1 FXN GALC GAN GARS1 GBA2 GBE1 GCDH GCK GCLC GDAP1 GET4 GJB1 GJB2 GJB6 GJC2 GLE1 GMPPA GNAS GNB2 GNPTAB GRM1 GSN GTF2E2 GTF2H5 HADH HADHA HADHB HARS1 HDAC8 HEXB HFE HINT1 HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HSD17B4 HSD3B7 HSPB1 HSPB3 HSPB8 HYCC1 IARS2 IBA57 IDS IDUA IFIH1 IFRD1 IGHMBP2 INF2 INPP5K INS INSR IQSEC2 IRF4 ITPR3 KARS1 KCNJ10 KCNJ11 KCNK9 KIF1A KIF1B KIF1C KIF5A KLC2 KLHL9 KPNA3 KRAS KRT14 KRT5 LAMA2 LDB3 LETM1 LIG3 LITAF LMNA LRPPRC LSM11 LYST LYZ MAG MANBA MARS1 MCM3AP MFF MFN2 MGAT2 MICU1 MME MOGS MORC2 MPC1 MPLKIP MPV17 MPZ MRE11 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTMR14 MTRFR MTRR MYD88 MYF6 MYH14 MYO9A MYOT NAGA NAGLU NAGS NARS1 NARS2 NDRG1 NDUFS2 NEFH NEFL NEMF NF1 NF2 NGF NGLY1 NIPBL NOTCH2 NOTCH3 NRCAM OPA1 OSMR OSTM1 P4HA2 PDE4D PDK3 PDSS1 PDX1 PDYN PEX1 PEX10 PEX11B PEX12 PEX16 PEX5 PEX6 PEX7 PHF6 PHYH PIEZO2 PIGB PIK3R5 PLA2G6 PLD3 PLEKHG4 PLOD1 PLP1 PLXNA1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPT1 POLG POLG2 POLR3A POLR3B PPOX PPP2R2B PRF1 PRICKLE1 PRKAR1A PRPS1 PRTN3 PSAP PSMC3 PTPN22 PTRH2 RAB18 RAB3GAP1 RAB3GAP2 RAB7A RAD21 RAI1 REEP1 REPS1 RETREG1 RFC1 RMND1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF170 RNF220 RNU7-1 RPIA RRM2B RYR1 SACS SAMD9L SAMHD1 SCN10A SCN11A SCN9A SCO2 SCP2 SCYL1 SELENOI SEPTIN9 SERPING1 SETX SGPL1 SH3TC2 SHMT2 SIL1 SLC12A6 SLC18A3 SLC25A1 SLC25A19 SLC25A4 SLC25A46 SLC30A10 SLC46A1 SLC52A2 SLC52A3 SLC5A6 SLC5A7 SMC1A SMC3 SMPD1 SNAP25 SNAP29 SOX10 SPG11 SPG21 SPG7 SPTBN1 SPTBN4 SPTLC1 SPTLC2 STAT3 STX11 STXBP2 SUCLA2 SURF1 SYNE1 SYT2 TARS1 TBC1D20 TBC1D24 TBCD TBCE TDP1 TFG TGFB1 TGM6 TIMM8A TIMMDC1 TK2 TMEM70 TMPRSS6 TNFRSF1B TNXB TOP3A TPI1 TRAPPC11 TREX1 TRIM2 TRIP4 TRMT5 TRPV4 TTBK2 TTPA TTR TUBB3 TWNK TXN2 TYMP UBA1 UCHL1 UNC13D UQCRC1 VAMP1 VCP VPS13A VPS13D VPS41 VRK1 VWA1 WARS1 WAS WDR48 WFS1 WIPF1 WNK1 XK XPA XPC XRCC1 XRCC4 ZFR ZFYVE26 HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA ABCG8 ALDH18A1 APOA1 APOA2 APOB APOE CHRDL1 EPHX2 GHR KERA LCAT LDLR LIPC MMP2 PCSK9 PPP1R17 SLC29A3 HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS ALDH18A1 BAZ1B BCL7B BCOR BUD23 CCNQ CLIP2 DNAJC30 EFEMP2 EIF4H ELN FBLN5 FGFR1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 IFT43 JAG1 LIMK1 LTBP1 LTBP4 METTL27 MGP MLXIPL NAA10 NCF1 NOTCH2 PIGL PIGN PIGO PPP1CB RFC2 SKIC2 SKIC3 STX1A TAOK1 TBL2 TMEM270 UBE2A VPS37D HP_PERIPHERAL_RETINAL_AVASCULARIZATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_AVASCULARIZATION CTNNB1 DLK1 FZD4 LRP5 MEG3 NDP RTL1 TSPAN12 ZNF408 HP_PERIPHERAL_RETINAL_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_DEGENERATION CFH CFI COL2A1 EFEMP1 KCNJ13 P3H2 POU3F4 RS1 HP_PERIPHERAL_VISUAL_FIELD_LOSS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_VISUAL_FIELD_LOSS ABCA4 AGBL5 ARL6 BBS1 CCDC28B CNGA1 CNGB1 CRX CWC27 CYP1B1 DLAT EFEMP1 GUCY2D IDS IFT140 LCA5 LRAT MYOC PDE6A POU3F4 PROM1 PRPF6 PRPH2 RDH5 RHO RLBP1 RNU4ATAC RPE65 RRM2B SDHA SEMA4A SH3TC2 SLC6A6 SPATA7 ZNF513 HP_PERIPORTAL_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPORTAL_FIBROSIS ACADVL ALG9 ANKS6 BCS1L DGUOK DZIP1L LIPA PKHD1 SLC51A SLC51B HP_PERISYLVIAN_POLYMICROGYRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERISYLVIAN_POLYMICROGYRIA ADGRG1 ATP1A2 ATP1A3 BICD2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1 GLI2 MAGEL2 MAPK8IP3 MICU1 MTOR NANS NDN NODAL OCA2 PI4KA PTCH1 RAB3GAP1 SHH SHMT2 SIX3 SNRPN SRPX2 STIL TBC1D20 TDGF1 TGIF1 TUBA1A TUBB2B ZIC2 HP_PERITONEAL_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONEAL_ABSCESS BRCA1 BRCA2 CDKN2A KRAS PALB2 PALLD PI4KA RABL3 SMAD4 TP53 TTC7A HP_PERITONITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONITIS ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BRCA1 CALR CD2AP CDC45 CFB COL4A3 COQ8B CRB2 DAAM2 ELANE EMP2 F5 FOCAD GAPVD1 INF2 JAK2 MAGI2 MEFV MVK MYH11 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PLCE1 PTPRO TBC1D8B TNFRSF1A TRPC6 WT1 HP_PERIVENTRICULAR_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_CYSTS CPLX1 CTBP1 FARSA FGFRL1 GFAP LETM1 LIPT2 NSD2 OCRL ODC1 PDHB PDHX UQCC3 HP_PERIVENTRICULAR_HETEROTOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_HETEROTOPIA ADGRL1 ALDH6A1 ANKRD11 APC2 ARF1 ARFGEF2 C2CD3 CDH2 CPLANE1 CPLX1 CSF1R CSGALNACT1 DCHS1 DHCR7 DHX16 ERMARD FAT4 FLNA FMR1 INTS8 KAT6B KAT8 KATNB1 MAN1B1 MAP1B MAST1 NEDD4L NRCAM PDHB PLCH1 PLK4 PRORP RTTN SLC25A24 TBC1D24 TMTC3 TUBA1A VPS35L ZEB2 ZMIZ1 ZNF292 ZSWIM6 HP_PERIVENTRICULAR_LEUKOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_LEUKOMALACIA AARS1 AARS2 AMPD2 ARHGAP31 ARID2 BRF1 CARS1 CDK13 CLCN4 CNTNAP2 DDHD2 DLL4 DOCK6 EDEM3 EOGT ERCC2 ERCC3 FCSK GTF2E2 GTF2H5 HK1 LONP1 MORC2 MPLKIP NDUFC2 NOTCH1 NRCAM NRROS OGDHL OPA1 PC PDHA1 PDHB PPFIBP1 PRR12 PUF60 RBPJ RNF113A SON SPATA5L1 TARS1 TBCK TET3 TPRKB TRMT1 USP7 HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA ADGRL1 ARF1 ARFGEF2 CPLANE1 CPLX1 DCHS1 ERMARD FAT4 FLNA INTS8 MAP1B NEDD4L PRORP TBC1D24 VPS35L ZMIZ1 ZNF292 ZSWIM6 HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES ABCC9 ABHD16A ACTA2 ACTL6B AP5Z1 ARSA CLN5 CNBP CNKSR2 CNP DDHD2 GM2A GNB2 MMACHC NEUROD2 PAK1 PRORP PSAP RAB3GAP2 RPL10 SELENOI SPG21 STRADA TMEM222 TRPM3 HP_PERMANENT_ATRIAL_FIBRILLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERMANENT_ATRIAL_FIBRILLATION FLNC KCNA5 KCNE2 KCNJ2 KCNJ5 KCNQ1 MYL4 SCN3B SCN5A HP_PERONEAL_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_ATROPHY ANO5 DES HINT1 LMNA PMP22 REEP1 SACS TRPV4 TTN VPS13A WASHC5 HP_PERONEAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_WEAKNESS FKTN GDAP1 GYG1 LMNA PMP22 REEP1 SARDH TRPV4 HP_PERSISTENCE_OF_HEMOGLOBIN_F https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_HEMOGLOBIN_F ADA2 BCL11A DNAJC21 GATA1 HBB HBG1 HBG2 HEATR3 KLF1 MDM4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS SRP54 TSR2 ZBTB7A HP_PERSISTENCE_OF_PRIMARY_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_PRIMARY_TEETH BCOR CA2 CTSK DVL1 EHMT1 FAM111A FLNA IL6ST KCNJ2 KCNJ5 KIF7 LMNA PTH1R PUS7 RAB23 RHOA SFRP4 SRCAP STAT3 TFAP2B TNFSF11 WNT5A ZBTB7A ZMPSTE24 HP_PERSISTENT_BLEEDING_AFTER_TRAUMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA DTNBP1 F13A1 F13B F5 F8 F9 FGA FGB FGG GATA1 MCFD2 P2RY12 SERPINE1 SERPINF2 VWF HP_PERSISTENT_CMV_VIREMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_CMV_VIREMIA IL2RB LAT MAGT1 PIK3R1 REL TPP2 HP_PERSISTENT_EBV_VIREMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_EBV_VIREMIA CD27 DEF6 IKZF3 ITK LAT MAGT1 PGM3 PIK3R1 PRKCD STK4 TET2 TNFRSF9 TOM1 TRAC HP_PERSISTENT_HEAD_LAG https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_HEAD_LAG CAMK2B CDK5 COX10 DHX30 DLAT EN1 FARSB GEMIN4 IFT140 LAMB2 LINS1 LYRM4 MECP2 MICOS13 MPZ MYL1 NAA20 NEDD4L NONO NSRP1 SERPINH1 SLC25A12 SLC31A1 SPTBN1 SUCLG1 TIMM50 UBA1 UGP2 HP_PERSISTENT_OPEN_ANTERIOR_FONTANELLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_OPEN_ANTERIOR_FONTANELLE ANKRD11 ATP7A CTSK DSE GH1 PEX2 RUNX2 HP_PERSISTENT_PUPILLARY_MEMBRANE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_PUPILLARY_MEMBRANE ADAMTSL4 ATOH7 COL18A1 CPAMD8 FZD4 GJA1 HRAS NDP POMT2 TRPM3 HP_PERSONALITY_CHANGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_CHANGES AARS1 ADH1C APOE ATP7B ATXN2 ATXN8OS CHMP2B DCTN1 EIF2B1 GBA1 GLUD2 GRN HLA-DQB1 HTT JPH3 LMNB1 MAPT MMACHC MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW NOTCH3 NR4A2 PLA2G6 PNPLA6 PRNP PSEN1 RNF216 SNCAIP SQSTM1 TBK1 TBP TIA1 TIMM8A TMEM106B TREM2 TYROBP VCP VPS13A HP_PERSONALITY_DISORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_DISORDER CACNA1A CBS CHD2 CUX2 CYP27A1 DNM1 DRD2 GABRB3 KCNT1 KCTD17 MAPK10 RORA SCN1A SGCE SPG21 TOR1A WAC XK HP_PES_CAVUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_CAVUS AAAS AARS1 ABHD12 ACTA1 ADCY6 ADPRS AGRN AIFM1 ALDH18A1 ALS2 ANO10 ANOS1 APTX ATG7 ATL1 ATP13A2 ATP1A1 ATP1A3 ATP6V1B2 ATP7A B3GLCT B4GALNT1 BAG3 BICD2 BIN1 BSCL2 C19orf12 CAPN1 CARS1 CAV3 CCDC141 CHAT CHCHD10 CHD7 CHMP1A CHP1 CNTNAP2 COA7 COASY COL13A1 COL27A1 COQ8A COX6A1 CPT1C CTDP1 CUL4B CYP27A1 CYP7B1 DCAF8 DCC DDHD1 DDHD2 DHH DHTKD1 DMXL2 DNAJB2 DNAJC6 DNM1L DNM2 DUSP6 DYNC1H1 DYSF EED EGR2 EIF2AK2 EMILIN1 ERCC4 ERCC5 ERLIN2 EZH2 FAR1 FBLN5 FBN1 FBXO38 FDX2 FEZF1 FGD4 FGF14 FGF17 FGF8 FGFR1 FHL1 FITM2 FLNA FLRT1 FLRT3 FXN GALC GAN GARS1 GBA1 GBA2 GBF1 GCH1 GDAP1 GJB1 GJB2 GJC2 GLB1 GMPPA GNB4 GNS GOSR2 GRIN2A GTF2E2 H3-3B HACD1 HADHA HADHB HARS1 HDAC8 HESX1 HEXB HINT1 HK1 HS6ST1 HSD17B4 HSPB1 HSPB8 HSPD1 IBA57 IDS IDUA IFIH1 IFRD1 IL17RD IMPDH2 INF2 IQSEC2 ITGA7 ITPR3 JAG1 KANSL1 KARS1 KBTBD13 KCNH1 KCNMA1 KCNN3 KIF1B KIF5A KLC2 KLHL41 KNSTRN KPNA3 KY L1CAM LAMP2 LAS1L LBR LIPE LITAF LMNA LONP1 LRSAM1 MAD1L1 MAFB MAP1B MAP3K20 MAP3K7 MCM3AP MECP2 MED25 MFN2 MME MMP2 MORC2 MPV17 MPZ MRE11 MSTO1 MTRFR MTTP MYH7 MYL2 MYMX MYO9A MYPN NARS1 NDNF NDRG1 NEB NEFH NEFL NF1 NFIX NIPA1 NLRP3 NR4A2 NRCAM NSD1 NSUN2 OGDHL OPA1 OPA3 PCGF2 PCNA PDHA1 PDK3 PDXK PEX10 PEX2 PEX5 PEX7 PHYH PI4KA PIGN PIK3CD PLEKHG5 PLIN4 PLP1 PMP2 PMP22 PMPCA PNKP PNPT1 PODXL POLG PQBP1 PROK2 PROKR2 PRPS1 PRX PYROXD1 RAB11B RAB7A REEP1 REEP2 REPS1 RET RSPRY1 RTN2 RUSC2 RYR1 SACS SAMD9L SBF2 SELENON SEMA3A SETBP1 SETX SH3TC2 SIGMAR1 SLC18A3 SLC25A1 SLC25A46 SLC33A1 SLC5A7 SLC6A8 SNAP25 SORD SOX10 SPART SPAST SPEG SPEN SPG11 SPG7 SPRY4 SPTLC1 SUZ12 SYNE1 SYNJ1 SYT2 TACR3 TDP1 TH TNNT1 TPM2 TPM3 TRAPPC11 TRIM2 TRPV4 TSPOAP1 TTN TTPA TWNK UBAP1 UBE2A UCHL1 USP9X VAMP1 VCP VPS13A VPS13D VPS41 VWA1 WARS1 WASHC5 WDR11 WDR26 WDR73 XPA XRCC4 ZBTB20 ZFYVE26 HP_PES_PLANUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_PLANUS ABL1 ACTA2 ADGRV1 ADNP AEBP1 AFF3 AGA AHCY ALDH18A1 ALG14 ALG2 ALMS1 AMMECR1 ANOS1 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARX ASPH ASXL3 ATP1A2 ATP1A3 ATP6AP2 ATP6V0A2 ATP6V1B2 ATP6V1E1 ATP7A ATR ATRX B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCR BGN BICD2 BPTF BRCA1 BRCA2 BRF1 BRIP1 BRWD3 BSCL2 BUD23 C12orf57 CACNA1A CACNA1C CADM3 CANT1 CBFB CCDC141 CCNK CDC42BPB CDK10 CEP152 CFL2 CHCHD10 CHD7 CHD8 CHST3 CIC CLCN4 CLDN11 CLIP2 CNOT3 COL12A1 COL1A1 COL1A2 COL27A1 COL2A1 COL5A1 COL5A2 COL9A3 COMP COPB1 CREBBP CRKL CRLF1 CSGALNACT1 CTSC CUL4B CUL7 CWC27 DACT1 DCC DEAF1 DHX30 DLG4 DMD DNAJC30 DPAGT1 DPH1 DPH2 DPH5 DPM3 DUSP6 DYM EGR2 EIF3F EIF4H EIF5A ELN EMILIN1 EP300 ERCC4 EXOC6B EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBXO11 FEZF1 FGD1 FGF17 FGF8 FGFR1 FIBP FKBP14 FKBP6 FLI1 FLII FLNA FLNB FLRT3 FMR1 FOXE3 FOXG1 GABRA1 GABRD GABRG2 GAN GARS1 GATA4 GDF11 GDF5 GDF6 GFPT1 GJA5 GJA8 GMPPB GNB1 GORAB GRIA3 GRIN2B GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H3-3B H4C11 H4C5 HCN1 HDAC8 HEATR3 HERC1 HESX1 HEY2 HIVEP2 HK1 HNRNPH2 HNRNPK HS6ST1 HSPG2 IARS2 IFITM5 IL17RD IPO8 IQSEC2 JARID2 KANSL1 KAT6A KCNH1 KCNMA1 KCNN3 KDELR2 KMT2A L1CAM LAS1L LIMK1 LMNA LMX1B LOX MAB21L2 MAD2L2 MAPK1 MAPRE2 MAT2A MED12 MED12L METTL23 METTL27 MFAP5 MGAT2 MLXIPL MMP2 MORC2 MPZ MTOR MYH11 MYH7 MYLK MYPN NAA20 NCF1 NDNF NDRG1 NDST1 NDUFAF6 NONO NPR3 NSD1 PACS1 PALB2 PCDH19 PDE4D PEX6 PHF8 PIEZO2 PIGG PLOD1 PMM2 PMP22 PMPCA PRDM5 PRKG1 PRKG2 PROK2 PROKR2 PRR12 PRX PUF60 PYCR1 PYROXD1 RAB33B RAB3GAP2 RAB7A RAD51 RAD51C RAI1 RFC2 RFWD3 RIN2 RLIM RPS6KA3 RSPRY1 RYR1 SALL1 SALL4 SARS1 SBF1 SBF2 SCN1A SCN1B SCN2A SCN9A SCO2 SEC23A SELENON SEMA3A SETD2 SH3TC2 SIL1 SKI SLC10A7 SLC16A2 SLC1A3 SLC26A2 SLC29A3 SLC37A4 SLC39A13 SLC5A7 SLC9A7 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMC5 SNRPN SOX10 SOX5 SOX9 SPEN SPRED2 SPRTN SPRY4 STAG2 STX1A STX1B SYT2 TACR3 TAOK1 TBC1D23 TBL1XR1 TBL2 TBX4 TCF4 TDO2 TET3 TFE3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TLK2 TMCO1 TMEM270 TONSL TPM2 TPM3 TPR TRIO TRMT1 TRPM3 TRPS1 TRPV4 TTN UBE2A UBE2T UCHL1 USP9X VLDLR VPS13B VPS37D WAC WASF1 WDR11 XRCC2 XYLT1 XYLT2 ZDHHC9 ZEB2 ZNF148 ZNF469 HP_PES_VALGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_VALGUS ANO1 BAG3 BSCL2 CACNA1C CAPN1 CDC42BPB COL12A1 COL6A1 COL6A2 COL6A3 COL9A3 FBN1 FLNA GABRA1 GABRG2 GARS1 GDF5 GNB2 H4C5 HK1 HNRNPR KDELR2 LARGE1 LONP1 MAP3K7 MAPK8IP3 MBD5 MYMX MYPN PCDH19 PIGG PPP1R15B PUF60 RAI1 REEP1 RFT1 SCN1A SCN1B SCN2A SCN4A SCN9A SH3TC2 SLC16A2 SMG9 SMOC1 SPRED2 SYT1 TCF4 TOR1A TPM2 TPM3 TRIP4 TRMT10A WAC WDR19 HP_PETECHIAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETECHIAE APOE BCOR CALR CASP10 CD109 CLCN7 DCLRE1B DPP9 ETHE1 ETV6 F8 FCGR2C FERMT3 FIP1L1 FUCA1 FYB1 GATA1 GBA1 GFI1B GIMAP5 GNA14 GP1BA GP1BB GP9 HCK HOXA11 IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 LCP2 MPL NABP1 NAGA NEU1 NPM1 NUMA1 OCLN PEPD PML PRF1 PRKAR1A RAB27A RARA SAMD9 STAT3 STAT5B STX11 STXBP2 TBL1XR1 TET2 TREX1 UNC13D USP18 VWF WAS WIPF1 ZBTB16 HP_PETERS_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETERS_ANOMALY B3GLCT CDH2 CENPF COX7B CRPPA CYP1B1 FKRP FKTN FOXC1 FOXE3 HCCS LARGE1 MAF NCAPG2 NDUFB11 PAX6 PITX2 PITX3 POMT1 POMT2 PRR12 RERE TRIM44 WDR37 HP_PHALANGEAL_CONE_SHAPED_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_CONE_SHAPED_EPIPHYSES ATR BGN COG4 COL2A1 DYM EIF2AK3 EVC EVC2 EXT1 FGFR3 FLNA GDF5 GPX4 IFT140 IFT172 IFT52 IHH KIF15 MIA3 MRPS28 NEK1 NPR2 PRKAR1A RAD21 RMRP RUNX2 SRCAP TBC1D2B TRIP11 TRPS1 TRPV4 HP_PHALANGEAL_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_DISLOCATION AEBP1 B3GALT6 B4GALT7 CANT1 COL1A1 COL5A1 COL5A2 HP_PHARYNGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHARYNGITIS ALG12 CLPB CXCR4 ELANE GFI1 HLA-B HLA-DPB1 HLA-DRB1 NFKB2 P4HA2 PTPN22 SH2D1A SLC29A3 SRP19 SRP54 TCIRG1 TNFRSF1A XIAP HP_PHEOCHROMOCYTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHEOCHROMOCYTOMA CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DLST DNMT3A EPAS1 FH HRAS IFNG KIF1B MAX MDH2 MEN1 NF1 PRKAR1A RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TSC1 TSC2 VHL HP_PHIMOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHIMOSIS APC2 CENPT CTCF DKC1 ERMARD FERMT1 NSD1 PQBP1 SETD2 SIN3A HP_PHOCOMELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOCOMELIA ESCO2 LBR LMBR1 NIPBL RBM8A SF3B4 TBX5 WNT7A HP_PHONIC_TICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONIC_TICS GNB1 HDC PANK2 SLITRK1 SLITRK2 VPS13A HP_PHONOPHOBIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONOPHOBIA BAZ1B BCL7B BUD23 CLIP2 CREBBP DNAJC30 EDNRA EIF4H ELN EP300 ESR1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 RFC2 SCN1A SLC1A3 STX1A TBL2 TMEM270 TNF VPS37D HP_PHOTOPHOBIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPHOBIA AARS1 ABCA4 ADAM9 AFG3L2 AGBL5 AHI1 AHR AHSG AIPL1 AIRE ALDH3A2 ALMS1 ANTXR1 AP1B1 AP3B1 AP3D1 ARHGEF18 ARL2BP ARL3 ARL6 ATF6 ATXN7 BBS1 BBS2 BEST1 BLOC1S5 C1QTNF5 C4A CA4 CABP4 CACNA1F CACNA2D4 CARS1 CC2D2A CCR1 CDHR1 CEP250 CEP78 CERKL CFAP410 CFAP418 CFH CFI CHST6 CLCC1 CLRN1 CLTRN CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL17A1 COL4A1 COL8A2 CRB1 CRX CRYGC CST6 CTNS DCN DCT DDB2 DHDDS DHX38 DKK1 DRAM2 EDNRA EFEMP1 ELOVL1 ELOVL4 EPCAM ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 EYS FAM161A FAS FOXC2 FSCN2 GALC GAN GJA1 GJB2 GJB6 GNAT2 GNB3 GPR143 GRHL2 GTF2E2 GTF2H5 GUCA1A GUCA1B GUCY2D GUSB HADHA HARS1 HGSNAT HK1 HLA-A HLA-B HLA-DRB1 HPS1 HPS6 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT88 IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 INPP5E ITGB6 ITM2B KCNJ13 KCNV2 KIAA1549 KIZ KLHL7 KLRC4 KRT12 KRT14 KRT3 KRT5 LCA5 LRAT LRMDA LSS LTBP2 LYST MAK MAPT MBTPS2 MC1R MCOLN1 MEFV MERTK MFRP MPLKIP NEK2 NLRP1 NLRP3 NMNAT1 NOD2 NOTCH2NLC NR2E3 NRL OCA2 OFD1 OPN1LW OPN1MW OPN1SW OVOL2 PCARE PCNA PDE6A PDE6B PDE6C PDE6G PDE6H PERCC1 PIKFYVE PITPNM3 PLCD1 PNPLA6 POC1B POLA1 POLH POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP RAB28 RAX2 RBP3 RDH12 RDH5 REEP6 RGR RGS9 RGS9BP RHO RIMS1 RIMS2 RLBP1 RNF113A ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SCAPER SCN1A SEMA4A SLC1A3 SLC24A5 SLC39A4 SLC45A2 SLC6A19 SLC7A14 SNRNP200 SPATA7 SREBF1 ST14 STAT4 TACSTD2 TARS1 TAT TGFBI TIMM8A TLCD3B TLR4 TNF TOPORS TP63 TRANK1 TTC8 TTLL5 TUB TUBB4B TULP1 TYR UBAC2 UNC119 USH2A VSX1 WDR45 WNT10A XPA XPC ZEB1 ZNF408 ZNF513 HP_PHOTOPSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPSIA ARHGEF18 ATP1A2 BAP1 CACNA1A CYSLTR2 GNA11 GNAQ HGSNAT PRRT2 SCN1A SF3B1 HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT CLCC1 HLA-A PMM2 SLC6A6 TRNT1 HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE GABRA1 GABRG2 KCTD7 PCDH19 SCN1A SCN1B SCN2A SCN9A HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE CACNB4 CILK1 CLCN2 EFHC1 GABRA1 GABRD GABRG2 JRK KCNQ3 PCDH19 SCN1A SCN1B SCN2A SCN9A SLC9A6 HP_PHTHISIS_BULBI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHTHISIS_BULBI ATOH7 BCOR BRD4 CDH11 COL18A1 FZD4 HDAC8 HMX1 LRP5 MARK3 NDP NIPBL RAD21 SMC1A SMC3 TMEM53 HP_PHYSICAL_URTICARIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHYSICAL_URTICARIA ADGRE2 CARMIL2 IL12A IL12RB1 IRF5 KIT MMEL1 PLCG2 POU2AF1 SERPING1 SLC27A4 SPIB SUPT16H TNFSF15 TNPO3 HP_PICA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PICA ASH1L CDK13 CHD8 DHPS ELP2 PGM2L1 ZSWIM6 HP_PIERRE_ROBIN_SEQUENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIERRE_ROBIN_SEQUENCE AMER1 ANKRD17 BMP2 BUB1 COG1 COL11A1 COL11A2 COL2A1 COL9A2 DGCR2 DGCR6 DGCR8 EIF4A3 ESS2 FLNA GRB10 KCNK4 KIF15 MAP3K7 MYMK MYMX NEDD4L PGM1 PIGA RBM10 SATB2 SCUBE3 SLC10A7 SLC35B2 SNRPB TBX1 TGDS YY1 HP_PIGMENTARY_RETINOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIGMENTARY_RETINOPATHY ABCA4 ACOX1 AGBL5 AHI1 AIRE ALMS1 AMACR ARL13B ARL3 ARL6 ARSG ATXN7 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 CAV1 CCDC28B CEP19 CEP290 CFAP410 CFAP418 CHM CLCC1 CLN3 CLRN1 CNGA1 CNGB1 CNNM4 COA8 COX7B COX8A CRB1 CRX CTNS CYP4V2 DHX38 ERCC3 ERCC4 ERCC6 ERCC8 EYS FAM161A FKRP FLVCR1 FSCN2 GMPPB GRM6 GSS GUCY2D HADH HADHA HADHB HCCS HGSNAT HK1 HKDC1 IDH3A IDH3B IFT140 IFT172 IFT27 IFT43 IFT74 IMPDH1 IMPG2 ISCA1 JAG1 KIAA1549 KIZ LARGE1 LCA5 LRAT LZTFL1 MAK MECR MED12 MFRP MFSD8 MKKS MKS1 MMACHC MORC2 MSTO1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NCAPG2 NDUFAF1 NDUFB11 NGLY1 NMNAT1 NOTCH2NLC NPHP1 NR2E3 NRL PANK2 PCARE PDE6A PDE6B PDE6G PEX1 PEX2 PEX5 PISD PNPLA6 POC1B POLR3A POMGNT1 POMT1 POMT2 PRCD PRDX1 PROM1 PRPF31 PRPF6 PRPF8 PRPH2 PUS1 RAX2 RBP3 RDH11 RDH12 RDH5 REEP6 RHO RLBP1 RNASEH1 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRM2B SAG SCAPER SCLT1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SEMA4A SLC24A1 SLC7A14 SNRNP200 SPATA7 SURF1 TIMP3 TRIM32 TRIM37 TTC8 TULP1 UNC119 USH2A VPS13B WDPCP WFS1 ZFYVE26 ZNF408 ZNF513 HP_PILI_CANALICULI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_CANALICULI GAN PADI3 TCHH TGM3 TP63 HP_PILI_TORTI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_TORTI ATP7A BCS1L CDH3 DSG4 ERCC2 HEPHL1 KRT85 LMNA NECTIN1 NECTIN4 PEX1 PEX6 ST14 WRN HP_PILL_ROLLING_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILL_ROLLING_TREMOR CDKL5 DNAJC6 GABBR2 MECP2 NTNG1 PLA2G6 SMC1A HP_PILOMATRIXOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILOMATRIXOMA APC CREBBP CTNNB1 DICER1 EP300 KEAP1 MAD1L1 HP_PINEAL_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PINEAL_CYST ADNP BPTF GALNT2 KANSL1 KRAS NONO PNPLA2 PSMD12 WDR26 HP_PITUITARY_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_ADENOMA AIP ALG5 ALG9 APC ARMC5 ATRX BICC1 BMPR1A BRAF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C DNAJB11 EPCAM FAN1 GANAB GNAS GPR101 IDH1 IDH2 IFNG IFT140 KRAS MEN1 MLH1 MLH3 MSH2 MSH6 NR3C1 PDE11A PIK3CA PKD1 PKD2 PMS1 PMS2 PRKAR1A RPS20 SEMA4A TGFBR2 TP53 TSC1 TSC2 USP48 USP8 YY1 HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA ATRX BRAF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C MEN1 NR3C1 TP53 USP48 USP8 HP_PITUITARY_DWARFISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_DWARFISM FOXA2 GH1 GLI2 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1 SOX3 HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA AIP ALG5 ALG9 BICC1 CDKN1A CDKN1B CDKN2B CDKN2C DNAJB11 GANAB GPR101 IFT140 MEN1 PDE11A PKD1 PKD2 PRKAR1A HP_PITUITARY_HYPOTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_HYPOTHYROIDISM AIP AKT1 ARNT2 BAP1 BRAF CDH23 CTNNB1 FOXA2 GLI2 GLI3 HESX1 HID1 LEP LEPR LHX3 LHX4 MEN1 NF2 OTX2 PCSK1 PDGFB PIK3CA POMC POU1F1 POU3F4 PROP1 RBM28 SMARCB1 SMARCE1 SMO SOX3 SUFU TERT TMEM67 TRAF7 TRHR TSHB HP_PITUITARY_NULL_CELL_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_NULL_CELL_ADENOMA CDKN1A CDKN1B CDKN2B CDKN2C MEN1 HP_PITUITARY_PROLACTIN_CELL_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_PROLACTIN_CELL_ADENOMA AIP CDKN1A CDKN1B CDKN2B CDKN2C GPR101 MEN1 YY1 HP_PLACENTAL_ABRUPTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLACENTAL_ABRUPTION CD46 CFH CFI FANCF HELLPAR HP_PLAGIOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLAGIOCEPHALY ADAR ADARB1 ADAT3 ADNP AFF4 AGO2 ALG12 ALX4 ANTXR1 ARID1B ARID2 ARX ATP2B1 ATP6V1B2 B3GALT6 BLTP1 BMP4 CA2 CACNA2D1 CAMK2A CASK CBFB CCDC47 CDC42BPB CDK13 CHAMP1 CHN1 CHSY1 CLCN3 CNOT3 COL11A1 COL11A2 COL25A1 CUX1 CYFIP2 DHX37 DLK1 DPYS DPYSL5 DYNC1H1 EFNB1 EHMT1 EIF5A EMC10 EML1 ERGIC1 ERMARD FAM20C FBXL4 FBXO11 FGFR2 FGFR3 FKTN FOCAD FOXP2 GRIA1 H3-3A H3-3B HEPHL1 HERC2 HNRNPH1 HNRNPK HRAS IFIH1 INPP5E KAT6A KIDINS220 KIF21A KMT2C KRAS LMX1B LSM11 MADD MAF MAFB MAPK1 MBTPS2 MED12 MED13L MEG3 MESD MN1 MYMK NALCN NEPRO NFIX NLGN4X NONO NRAS NRCAM PCGF2 PGAP2 PGAP3 PHF21A PHOX2A PIGA PIGL PIGO PIGQ PIGV PIGW PIGY PKDCC POLR2A PPP1R21 PPP2CA PPP2R1A PPP2R5D PPP3CA PRKAR1B PRUNE1 RAC1 RAC3 RFX7 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 ROBO3 RTL1 SALL4 SAMHD1 SCYL2 SET SLC26A2 SMARCA2 SMC3 SPTBN1 STXBP1 SUPT16H TBC1D24 TBCD TCF12 TCF20 TP53RK TREX1 TRPM3 TUBA1A TUBB2B TUBB3 TWIST1 UGDH UNC80 USP7 WBP11 WDR35 ZBTB20 ZIC1 ZNF292 ZNF699 HP_PLATYBASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYBASIA ARVCF COL1A1 COL1A2 COMT FLNB GP1BB HIRA JMJD1C LBR NOTCH2 NOTCH3 RREB1 SEC24C SH2B1 SIK3 TBX1 UFD1 HP_PLATYSPONDYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYSPONDYLY ABCC9 ACAN ACP5 ADA AGA AIFM1 ALPL ARSK ATP7A B3GALT6 B3GAT3 BGN BMP1 CANT1 CCN6 CFAP410 CHST3 COG4 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREB3L1 CSF1R DDR2 DDRGK1 DHX37 DYM EIF2AK3 EXOC6B EXTL3 FGFR1 FGFR3 FKBP10 FLNA FLNB FN1 FUCA1 GALNS GLB1 GORAB GPX4 GUSB HDAC6 HSPG2 IDH1 IDH2 IFITM5 IFT43 INPPL1 KCNJ8 KDELR2 KIF22 LAMA5 LBR LFNG LRP5 LTBP3 MAN2B1 MATN3 MBTPS2 MIA3 MMP13 MRPS28 NANS NEK1 NEPRO OCRL P3H1 PAM16 PAPSS2 PCYT1A PLCB3 PLOD1 PLOD2 PLOD3 PMM2 PPIB PRKG2 PTH1R PYCR1 RAB33B RINT1 RMRP RNU4ATAC RPL13 RSPRY1 RUNX2 SEC24D SERPINH1 SFRP4 SGMS2 SLC25A24 SLC26A2 SLC29A3 SLC35D1 SLC39A13 SMAD4 SMARCAL1 SPARC TAPT1 TCIRG1 TMEM53 TNFRSF11A TONSL TRAPPC2 TRIP11 TRPV4 UFSP2 WNT1 XYLT1 XYLT2 HP_PLETHORA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLETHORA ARMC5 ATRX BRAF CDH23 EPOR GNAS JAK2 NR3C1 SH2B3 TP53 USP48 USP8 VHL HP_PLEURAL_EFFUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURAL_EFFUSION ACTA1 ACTN4 ADAMTS3 AGR2 ALG14 BAP1 BCL2 BCL6 BLTP1 BMP2 BRAF BTNL2 C4A CALCRL CAV1 CBL CCBE1 CCND1 CCR1 CD46 CFH CFI CFTR CTRC CYBB CYBC1 DEF6 DNASE1L3 EIF2AK4 EPHB4 ERAP1 FAS FAT4 FOXC2 FOXF1 FSHR GAA GPR35 HELLPAR HFE HLA-B HLA-DRB1 IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6 IRAK1 ITK KIF11 KLRC4 LACC1 LYST LZTR1 MAP2K1 MEFV MIF MST1 MTO1 MYD88 NR1H4 PIEZO1 PLVAP PRKAG2 PRSS1 PRSS2 PTPN11 RASA1 RIT1 SAT1 SCARB2 SCN4A SEMA4D SOX18 SPINK1 SPP1 STAT4 TAPT1 TCF4 TLR4 TSC1 TSC2 UBAC2 USP18 VPS51 ZNFX1 HP_PLEURITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURITIS C4A CCR1 CTLA4 DNASE1 ERAP1 FAS FCGR2A FCGR2B HLA-B HLA-DPA1 HLA-DPB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRF4 KLRC4 MEFV NOD2 PRG4 PRTN3 PTPN22 STAT4 TLR4 TNFRSF1A TREX1 UBAC2 HP_PNEUMOCYSTIS_JIROVECII_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMOCYSTIS_JIROVECII_PNEUMONIA CARD11 IKBKG IL21R TLR8 ZBTB24 HP_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMONIA AASS ABCA3 ACADVL ACP5 ACTA1 ACTC1 ADA AFF4 ALG12 ALMS1 AP3B1 ARID1A ARID1B ARID2 ARPC1B ARSB ASAH1 ATP6V0A1 ATP6V1B2 B3GALT6 BLM BLNK BTK C3 C4B CACNA1C CARD11 CARMIL2 CASP8 CAVIN1 CCDC39 CCDC40 CD19 CD247 CD27 CD3D CD3E CD79B CD81 CDON CFAP410 CFB CFTR CHD7 CITED2 CLPB COL11A2 COL4A5 COL4A6 CR2 CREBBP CRLF1 CSF2RA CSF2RB CSPP1 CTLA4 CXCR4 CYBA CYBB CYBC1 DCLRE1C DDR2 DISP1 DLL1 DNAAF4 DNAH11 DNAI1 DNAI2 DNAJC21 DNMT3B DOCK2 DOCK8 DPF2 DRC1 DZIP1L EFEMP2 EFL1 EGFR ELANE EP300 EPM2A ERCC6 EXTL3 FANCF FBLN5 FBXW7 FCGR2A FCGR3B FCHO1 FGF8 FGFR1 FIG4 FMO3 FOCAD FOXH1 FOXN1 FOXP3 GALNS GAS1 GAS8 GATA4 GATA6 GBA1 GFI1 GIPC1 GLB1 GLI2 GNPTAB GRHL3 HACD1 HLA-DQA1 HLA-DQB1 HYDIN ICOS IDH1 IDS IFIH1 IFNGR1 IGBP1 IGHG2 IGHM IGKC IGLL1 IL12RB1 IL17RA IL21R IL2RG IL6ST IL7R IRF2BP2 IRF8 ITGA7 JAK3 KAT6A KCNJ6 KDM6A KIAA0586 KMT2D KNSTRN KPTN LAMA3 LAMB3 LAMC2 LAT LEP LIG4 LMNB1 LONP1 LRBA LRIF1 LRP12 LTBP1 LTBP3 LTBP4 MAN2B1 MAP3K20 MARS2 MASP2 MCIDAS MED25 MEGF10 MID1 MS4A1 MTHFD1 MTM1 MYH6 MYL2 MYO1H NADK2 NBN NCF1 NCF2 NDUFA6 NFIX NFKB1 NFKB2 NHLRC1 NIPBL NKX2-1 NKX2-5 NME5 NODAL NOS1 NOTCH2NLC NTRK1 ODAD1 ODAD2 ODAD4 ORC6 OSTM1 P4HTM PAFAH1B1 PANK2 PDHA1 PEPD PGM3 PIGA PIGN PIK3CD PIK3R1 PKHD1 PKP1 PLA2G6 PLCH1 PLOD1 PMM2 PNP POLA1 POLR3A PRKCD PTCD3 PTCH1 PTEN PURA RAC1 RAC2 RAG1 RAG2 RANBP2 REL RELB RFX7 RILPL1 RMRP RNF125 RNF168 RNU4ATAC RYR1 SAMD9 SBDS SCNN1A SCNN1B SCNN1G SDHD SELENON SERPINH1 SETBP1 SFTPB SFTPC SGCG SHH SIAH1 SIX3 SLC25A24 SLC35A1 SLC35C1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SNAP29 SOX11 SOX4 SP110 SREBF1 SRP19 SRP54 STAG2 STAT3 STIL STK36 STK4 SYK TAF1 TBC1D24 TBCD TBX1 TBX20 TCF3 TCIRG1 TDGF1 TFG TGFB1 TGIF1 TIMM8A TK2 TLL1 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF12 TONSL TPM2 TPM3 TREX1 UBB UNC119 USB1 USP26 VPS33A WAS WDR1 WDR19 WDR35 ZAP70 ZBTB24 ZBTB7A ZIC2 ZNF341 ZNF699 ZNFX1 HP_PNEUMOTHORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMOTHORAX ABL1 ACTA2 ADAMTS2 ADAMTS3 ATP6V1A ATP6V1E1 B3GALT6 BTNL2 CAV1 CEACAM3 CEACAM6 CFTR CHST14 CLCA4 CLPB COL3A1 DCTN4 DDR2 DSE DZIP1L EDNRA EFEMP2 ELN EXT1 EXT2 FBLN5 FBN1 FLCN FOXE3 GCLC GSTM3 HEY2 HFE HLA-DRB1 HMOX1 HRAS IPO8 KCNN4 LAMA3 LAMB3 LAMC2 LOX LTBP1 MAT2A MFAP5 MIF MYH11 MYLK PKHD1 PRKG1 SERPINA1 SFTPB SFTPC SLC11A1 SLC25A24 SLC26A9 SLC31A1 SLC34A2 SLC6A14 SLC9A3 SMAD2 SMAD3 SMAD4 STX1A TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TSC1 TSC2 TXNDC15 WARS2 HP_POIKILOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILOCYTOSIS ABCB6 ABCG8 ACSL4 ADAMTS13 AMMECR1 AMN ANK1 APOB CA2 CAD CALR CASK CDAN1 CDIN1 CFH CFHR1 CFHR3 CLPB CRIPT CUBN CYP4F22 EPB41 EPB42 G6PD GATA1 GP1BA GYPC HBB JAK2 KCNE5 KCNN4 KIF23 KLF1 MPIG6B MPL MTTP NHLRC2 PANK2 PIEZO1 PKLR RACGAP1 RHAG RHCE RHD SAR1B SC5D SLC19A1 SLC2A1 SLC4A1 SPTA1 SPTB STEAP3 TET2 TMPRSS6 TOR1A TRNT1 UMPS UROS VPS13A XK HP_POIKILODERMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILODERMA ANAPC1 BLM CD28 COL7A1 CTLA4 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FAM111B FERMT1 IARS2 LMNA LTV1 MTX2 POLH RECQL4 RNU7-1 TNFRSF1B USB1 XPA XPC HP_POINTED_CHIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POINTED_CHIN ABL1 ACTB ACTG1 ANKRD11 AP4E1 ATP6V1A ATP6V1E1 BAZ1B BCL7B BCR BICRA BUD23 CAMTA1 CASZ1 CBFB CCDC8 CDH11 CDH2 CDK10 CHAMP1 CHD1 CHD8 CHRNG CLCN4 CLIP2 COL2A1 CRKL CUL7 DHX37 DNAJC30 DNM1L DOCK3 EIF4H ELN FGF3 FKBP6 FLNA FN1 FRA10AC1 GABRD GJA5 GJA8 GTF2I GTF2IRD1 GTF2IRD2 HRAS HS2ST1 HSPG2 INSR JARID2 KAT6A KCNAB2 KDM3B KIF11 KIFBP LIMK1 LMNB1 LUZP1 MADD MAN1B1 MAP3K7 MAPK1 MED12L MEIS2 MESD METTL27 MLXIPL MMP23B MRAS MYH3 NCF1 NFIX NGLY1 NOTCH2 NR2F1 NSD1 OBSL1 OTUD5 PDCD6IP PDGFRB PDPN PGM2L1 PIGB PIGU PLK4 PLOD3 POC1A POGZ POLR3A PORCN POU4F1 PRDM16 PRKCZ PRKG2 PUS7 RALA RERE RFC2 RMRP SCUBE3 SET SETBP1 SETD2 SHANK3 SIN3A SKI SLC37A4 SNX14 SPEN SPOP SPRED2 SPTBN1 STX1A TAF1 TAFAZZIN TBC1D7 TBL2 THOC6 TLK2 TMEM270 TMEM94 TRIP12 TTC5 TUBGCP4 TUBGCP6 UBE4B UGDH VPS37D YY1 ZEB2 ZNF148 ZNF292 ZNF526 HP_POLAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLAR_CATARACT APC BBS2 COL4A3 CRYAB CRYGB EBP EPHA2 HS2ST1 HSF4 ITM2B MIR184 PEX5 PITX3 TAOK1 VIM ZBTB20 HP_POLLAKISURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLLAKISURIA ALDH18A1 BNC2 DYSF FA2H FAR1 FMR1 HOGA1 NBN NOTCH2NLC HP_POLYARTICULAR_ARTHROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYARTICULAR_ARTHROPATHY CCN6 CD244 CIITA DMP1 ENPP1 IL10 IL36RN MEFV NFKBIL1 NLRP1 NLRP3 NOD2 PIK3CD PRG4 PTPN22 SLC22A4 STAT3 TNFAIP3 TNFRSF1A HP_POLYCLONAL_ELEVATION_OF_IGM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCLONAL_ELEVATION_OF_IGM GPR35 KLHDC8B MST1 MYD88 SEMA4D TCF4 HP_POLYCYSTIC_KIDNEY_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_KIDNEY_DYSPLASIA ALG9 ANKS6 ARVCF CDC73 COMT CPT2 DNAJB11 DYNC2H1 DZIP1L ESCO2 ETFA ETFB ETFDH EYA1 GANAB GATA3 GLIS3 GP1BB HIRA IFNG IFT43 JMJD1C KIAA0586 MKKS MKS1 NAA10 NEK1 NOTCH2 NPHP3 OFD1 PEX12 PEX2 PEX5 PKD1 PKD2 PKHD1 RNU4ATAC RREB1 SEC24C SHANK3 SIX1 SKIC2 SKIC3 SRCAP TBX1 TCTN2 TMEM107 TMEM218 TMEM231 TRIP11 TSC1 TSC2 TXNDC15 UFD1 WDR35 ZNF423 HP_POLYCYSTIC_LIVER_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_LIVER_DISEASE ALG5 ALG9 BICC1 DNAJB11 GANAB IFT140 LRP5 PKD1 PKD2 PRKCSH SEC63 HP_POLYCYTHEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYTHEMIA ACVRL1 BPGM CCND1 CYB5R3 EDNRB EGLN1 ENG EPAS1 EPO EPOR FH HBA1 HBA2 HBB JAK2 KCNN4 NAA10 PIEZO1 PKLR SH2B3 SLC30A10 SLC4A1 VHL HP_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYDACTYLY ABCA12 ACOX1 ADNP AFF3 AHI1 AKT3 ALMS1 ALX3 ARL13B ARL3 ARL6 ARMC9 ARVCF B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BLM BMP4 BMPR1B C2CD3 CASZ1 CBY1 CC2D2A CCDC22 CCDC28B CCND2 CD96 CDC45 CDCA7 CDKN1C CENPF CEP104 CEP120 CEP164 CEP19 CEP290 CEP41 CFAP418 CHD7 CHN1 CHST11 CHSY1 CIBAR1 CILK1 CNTNAP2 COG6 COLEC10 COMT CPLANE1 CPLX1 CRB2 CREBBP CSPP1 CTBP1 CTU2 DACT1 DDX59 DEAF1 DHCR7 DPYSL5 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A EBP EFNB1 EFTUD2 EP300 EVC EVC2 EXTL3 FAM149B1 FANCB FANCD2 FBLN1 FGFR2 FGFRL1 FLI1 FLII FLNA FOXA2 GABRD GATA6 GDF5 GDF6 GJA1 GJA5 GJA8 GLI1 GLI2 GLI3 GP1BB GPC3 GPC4 H19 H3-3B HEATR3 HEPACAM HESX1 HIRA HMGA2 HNRNPK HOXA13 HOXD13 HSPG2 HYLS1 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 IGF2 INPP5E INSR INTU IQCE IQSEC2 JMJD1C KATNIP KCNAB2 KIAA0586 KIAA0753 KIAA0825 KIF3B KIF7 LBR LETM1 LHX3 LHX4 LMBR1 LUZP1 LZTFL1 MAFB MAP3K20 MAPKAPK5 MBTPS2 MEGF8 MKKS MKS1 MMP23B NCAPG2 NEK1 NEK9 NELFA NEU1 NKX2-5 NKX2-6 NPHP1 NPHP3 NSD2 OFD1 OTUD5 OTX2 PDE6D PDPN PHF8 PIBF1 PIGG PIK3CA PIK3R2 PITX1 PLAA PLAG1 PNPLA6 PORCN POU1F1 PPP2R1A PRDM16 PRKACA PRKACB PRKCZ PROP1 PTCH1 PTEN PUF60 PURA RAB23 RAI1 RBBP8 RBM10 RERE RNU4ATAC RPGRIP1 RPGRIP1L RREB1 SALL1 SALL4 SC5D SCAPER SCLT1 SCNM1 SDCCAG8 SEC24C SETBP1 SETD5 SH2B1 SHH SKI SMO SMOC1 SPEN SPRED1 STAG2 SUCLG1 SUFU SYNGAP1 TASP1 TBX1 TBX3 TCTN1 TCTN2 TCTN3 TFAP2A TFAP2B TGFBR1 TGFBR2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TRAF3IP1 TRIM32 TTC21B TTC26 TTC8 TWIST1 TXNDC15 UBE4B UFD1 UQCC2 USP9X VPS35L WASHC5 WDPCP WDR19 WDR35 WNT7A ZIC3 ZNF141 ZNF423 ZNF699 ZSWIM6 HP_POLYGENIC_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYGENIC_INHERITANCE A2ML1 ABCG8 ADRB3 AGRP APOL1 BAX BCR BMP4 CARTPT CFH CST3 ENPP1 FKBP5 FLT3 GHRL GNB1 HTR2A HTRA1 IRF6 NBN NLRP1 NR0B2 NUP214 POMC PPARG SDC3 SERPINH1 STOX1 TAL1 TAL2 TP53 TPH2 UCP3 HP_POLYHYDRAMNIOS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYHYDRAMNIOS ABCC6 ACTA1 ACTG2 ADAMTS3 ADARB1 ADAT3 ADCY6 ADGRG6 AGRN AKT2 ALDH1A2 ALG12 ALG14 ALG9 ALPL AMER1 AMMECR1 ANO1 AQP2 ARVCF ASCC1 ASCL1 ASXL1 ASXL3 ATAD3A ATP1A2 ATP6V0A1 ATP6V1B2 AVPR2 B3GALT6 B3GLCT BICD2 BIN1 BRAF BSND BUB1 BUB1B BUB3 CALCRL CBL CCDC47 CD96 CDC42BPB CDK13 CEP57 CFL2 CHAT CHD7 CHRNA1 CHRND CHRNG CILK1 CLCN7 CLCNKA CLCNKB CLPB CNTN1 CNTNAP1 COASY COL11A2 COL13A1 COL2A1 COMT CRB2 CREBBP CSNK2A1 DHCR7 DIS3L2 DLK1 DMPK DNM2 DOK7 DPF2 DPH5 DPM2 DTYMK DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP EGFR ENPP1 EP300 ERBB3 ERF ESCO2 EXT2 EXTL3 FANCB FANCF FGFR3 FH FIG4 FKBP14 FLNB FLVCR2 FOXE1 FOXF1 FUT8 GBA1 GBE1 GLDN GLE1 GP1BB GPC3 GPC4 GRM7 HACD1 HBA1 HBA2 HERC2 HIC1 HIRA HOXD13 HRAS HSD17B4 HSPG2 HYLS1 IBA57 IKZF1 INPPL1 IPO8 IRF6 ITGA6 ITGA7 ITGB4 JMJD1C KAT6B KBTBD13 KCNJ1 KCNJ6 KDM3B KIAA0586 KIDINS220 KIF21A KIF7 KLHL40 KLHL41 KMT2D KRAS LBR LMNA LMOD1 LMOD3 LONP1 LTBP3 LZTR1 MADD MAFB MAGED2 MAGEL2 MAMLD1 MAP2K2 MAP3K20 MDFIC MEG3 MKRN3 MOGS MSX1 MTHFR MTM1 MTMR14 MUSK MYCN MYF6 MYH11 MYH3 MYL1 MYL2 MYLK MYO9A MYOD1 MYPN NALCN NEB NECTIN1 NPAP1 NPC2 NPHP3 NRAS NRCAM NUP88 ODC1 OTUD5 OTX2 PAFAH1B1 PAICS PCGF2 PHACTR1 PHGDH PHOX2B PI4KA PIEZO1 PIGA PIGN PIGQ PIGY PLEC PLVAP PPP1CB PRDM13 PRMT7 PRRX1 PSAT1 PTH1R PWAR1 PWRN1 RAF1 RAPSN RET RHD RIT1 RMND1 RPL10 RPL11 RRAS2 RREB1 RSPO2 RTL1 RYR1 SCN4A SCN8A SCYL2 SEC24C SELENON SEMA3E SHOC2 SIN3A SKIC3 SLC12A1 SLC16A2 SLC18A3 SLC25A1 SLC25A12 SLC25A26 SLC25A46 SLC26A2 SLC26A3 SLC27A4 SLC2A1 SLC35D1 SLC5A7 SLC9A3 SMG9 SNAP25 SNORD115-1 SNORD116-1 SNRPB SOD1 SOS1 SOX17 SOX9 SPINT2 SPOP SPRED2 STRADA SYNE1 SYT2 SZT2 TAPT1 TBC1D24 TBCD TBX1 TFAM TMCO1 TNNC2 TOR1A TP63 TPM2 TPM3 TRAIP TRAPPC12 TRIP11 TRIP13 TRPV6 TSEN2 TSEN54 TTC26 TTC7A TUBA1A TWIST1 UFD1 VAC14 VAMP1 VANGL2 WDR35 WDR81 WNT3 YWHAE ZBTB42 ZC4H2 ZIC3 ZMPSTE24 ZNF699 HP_POLYMICROGYRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMICROGYRIA ACTB ACTG1 ADGRG1 AHI1 AKT3 ARHGAP31 ARHGEF9 ARL13B ARL3 ARMC9 ATN1 ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 B3GALNT2 B4GAT1 B9D1 B9D2 BICD2 BMPER C2CD3 CBY1 CCDC88A CCND2 CDON CEP104 CEP120 CEP41 CILK1 COL18A1 COL25A1 COL3A1 COL4A1 COL4A2 CPLANE1 CPT2 CRPPA CSPP1 CUL4B DAG1 DEPDC5 DHCR24 DHX37 DISC1 DISP1 DLL1 DOCK6 DYNC1H1 EIF2AK2 EML1 EOMES ERCC1 ERMARD FBXO28 FDFT1 FGF8 FH FIG4 FKRP FKTN FLVCR2 FOXH1 GAS1 GLI2 GMPPB GNB1 GPHN GPSM2 GRIN1 HSD17B4 HYLS1 IBA57 IFT74 INPP5E KAT5 KATNB1 KATNIP KIAA0586 KIAA0753 KIF21A KIF26A KIF5C KIFBP KLHL15 LAGE3 LAMC3 LARGE1 LONP1 MAGEL2 MAN2C1 MAP1B MAPK8IP3 MBOAT7 MECP2 MICU1 MKS1 MN1 MTOR NANS NDN NEDD4L NODAL NPHP1 NPRL2 NPRL3 NSDHL OCA2 OCLN ODC1 OFD1 PAX6 PDE6D PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2A PI4KA PIBF1 PIGB PIK3CA PIK3R2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1R12A PTCH1 PTEN RAB18 RAB3GAP1 RAB3GAP2 RAC1 RECQL4 RNU4ATAC ROBO1 RPGRIP1L RTTN RXYLT1 SCN3A SF3B4 SHH SHMT2 SIN3A SIX3 SLC5A6 SMO SNAP29 SNRPN SON SRD5A3 SRPX2 STIL SUFU SUZ12 TBC1D20 TBC1D24 TCTN1 TCTN2 TCTN3 TDGF1 TGIF1 TMEM218 TMEM237 TMEM67 TMTC3 TMX2 TOGARAM1 TP53RK TRMT10C TRRAP TUBA1A TUBA8 TUBB TUBB2B TUBB3 TUFM USP18 VPS4A WDR62 WT1 ZEB2 ZIC2 ZNHIT3 HP_POLYMORPHIC_VENTRICULAR_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMORPHIC_VENTRICULAR_TACHYCARDIA CALM2 CASQ2 KCNJ2 KCNJ5 TECRL TRDN HP_POLYNEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYNEUROPATHY ABCD1 AIFM1 ALAD ARL6IP1 ATP7B ATXN10 CD59 COQ7 CYP7B1 DARS2 DGUOK DHH DMXL2 EDNRB ERCC6 ERCC8 FUCA1 GCLC GRM1 GSN HLA-DQA1 HLA-DQB1 HYCC1 LDB3 LITAF MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTRFR MYD88 MYOT NAGS NF1 NF2 NGLY1 OPA1 PDYN PEX11B PEX12 PEX7 PMM2 PRPS1 PSAP PSMC3 RPIA SEPTIN9 SETX SLC12A6 SNAP29 SPTBN1 SYNE1 TBC1D24 TMEM70 TTR UQCRC1 HP_POLYPHAGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYPHAGIA ABCC8 ADCY3 ADNP AGPAT2 ALMS1 ATP10A ATP5F1B BBS9 BRAF BSCL2 CASZ1 CHD8 CTNNB1 EZH2 FOXG1 GABRD GNAS GPR101 GRN HERC2 HNF1A HSPG2 HTT IFT74 IL6 ITPR3 KCNAB2 KCNJ11 LEP LEPR LUZP1 MAGEL2 MAN1B1 MAPT MBD5 MC4R MEN1 MKRN3 MMP23B MN1 MYT1L NDN NPAP1 NTRK2 OCA2 PCSK1 PDPN POMC PRDM16 PREPL PRKCZ PSEN1 PTPN22 PWAR1 PWRN1 RERE RFX7 SATB2 SETD2 SH2B1 SIM1 SKI SLC2A3 SLC3A1 SLC5A2 SNORD115-1 SNORD116-1 SNRPN SPEN SUPT16H TRANK1 UBE3A UBE4B UCP2 YY1 HP_POLYSPLENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYSPLENIA ACVR2B CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDON CFAP221 CFAP298 CFAP300 CFAP45 CFAP74 CFC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GDF1 GPC3 GPC4 HYDIN LRRC56 MCIDAS MEGF8 MMP21 MYCN NEK10 NME5 NME8 NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RAB23 RFWD3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TTC12 WDR35 YARS1 ZIC3 ZMYND10 HP_POLYURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYURIA AQP2 ATP1A1 AVPR2 BSND CASR CAV1 CLCNKA CLCNKB CLDN10 CLDN16 CTNS CYP24A1 FAM20A HNF1A IL6 ITPR3 KCNJ1 KCNJ10 KCNJ5 KL LZTFL1 MAGED2 NPHP1 NPHP3 NPHP4 PLVAP PTPN22 RRAGD SARS2 SLC12A1 SLC12A3 SLC34A1 SLC41A1 SLC5A2 SON TMEM67 HP_PONTOCEREBELLAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PONTOCEREBELLAR_ATROPHY CCDC88C CLTC DPM1 FA2H LAMA2 RORA SETX VPS4A HP_POOR_APPETITE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_APPETITE ABL1 ACTA1 AMN ATRX BCR BLM BRCA1 BRCA2 CAMK2B CDKN2A CTNS CUBN DAXX GRB10 HACD1 IL18BP ITGA7 KRAS KRT1 KRT10 LEMD2 LIG3 MAP3K20 MGME1 MYL2 NAGS PALB2 PALLD PCCA PCCB PIK3R1 POLG RABL3 RHBDF2 RRM2B RUNX1 SELENON SLC25A13 SLC25A26 SLC2A2 SLC39A4 SMAD4 TGFB1 TP53 TPM2 TPM3 TRANK1 TYMP WLS HP_POOR_COORDINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_COORDINATION AFF2 APC2 ARL6 ATP9A BBS1 CARS1 CCDC28B CDC42BPB CREBBP EED ELN EP300 ERCC4 HSD17B10 HUWE1 KCNA1 KCND3 LZTFL1 MLXIPL MTR NAA20 NIPA1 NIPA2 NSD1 PDE2A RNF168 SETD2 SIM1 SLC25A15 SLC6A8 SYNGAP1 TANGO2 TBC1D23 TCF20 TRANK1 TUBG1 TXN2 YWHAG HP_POOR_FINE_MOTOR_COORDINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_FINE_MOTOR_COORDINATION ACTA1 ADGRV1 ALMS1 ATP9A CUX1 CXCR4 DARS2 DCC DLK1 DMPK DNAL4 EZH2 FMR1 FOCAD FOXP2 FXN GABRA1 GABRD GABRG2 GDAP1 GNB5 GNE HCN1 HERC2 HTT KBTBD13 KLHL41 MAGEL2 MEG3 MFN2 MKRN3 MMACHC MTRFR MYPN NEB NPAP1 NTN1 PCDH19 PDHX PIEZO2 PPP2R2B PRNP PWAR1 PWRN1 RAD51 RAI1 RDH11 RNU12 RTL1 SBF2 SCN1A SCN1B SCN2A SCN9A SLC2A3 SLC30A10 SNORD115-1 SNORD116-1 STX1B THG1L TPM2 TPM3 VCP ZEB2 HP_POOR_GROSS_MOTOR_COORDINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_GROSS_MOTOR_COORDINATION CAMTA1 CLN5 DCX FKRP FOXP2 GDAP1 GMPPB HERC2 KCNQ2 LARGE1 MAGEL2 MKRN3 NPAP1 PDHX POMT1 POMT2 PWAR1 PWRN1 SNORD115-1 SNORD116-1 HP_POOR_HEAD_CONTROL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_HEAD_CONTROL AARS1 ACTA1 ACTL6B ADCY5 ADNP AGRN AHCY ALG13 ALG14 ALG2 AP3B2 AP3D1 ARV1 ARX ASPA ATP1A2 ATP1A3 ATP6V1A ATP7A BOLA3 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2B CAMLG CASK CDK19 CDKL5 CELF2 CHAT CHRNB1 CHRND CLP1 CLTC CNKSR2 COG8 COL13A1 COLQ COX4I1 CPLX1 CYFIP2 DAG1 DALRD3 DHDDS DHFR DHX16 DMXL2 DNM1 DPAGT1 DPM2 EARS2 EBF3 EEF1A2 ELP2 EXOSC3 EXOSC9 FARS2 FBXO28 FGF12 FGF13 FHL1 FKBP14 FKRP FOXRED1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GEMIN4 GFM2 GFPT1 GJC2 GM2A GMPPB GNAO1 GNB5 GNPTAB GPHN GRIN1 GRIN2A GRIN2D GRM7 HACD1 HCN1 HEXA HIVEP2 HPRT1 HSD17B10 HSPD1 IFIH1 IFT140 INPP5E IREB2 ITGA7 KCNA1 KCNA2 KCNB1 KCNC2 LAMB2 LGI4 LMNA LYRM4 MAP3K20 MDH2 MEGF10 MFSD2A MICOS13 MPZ MRPS25 MT-ND1 MT-ND2 MT-ND3 MYH7 MYL2 MYO9A MYPN NACC1 NADK2 NDE1 NDUFA1 NDUFA10 NDUFA11 NDUFA13 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEUROD2 NGLY1 NONO NTRK2 NUBPL NUS1 OSTM1 PACS2 PAFAH1B1 PARS2 PCLO PET100 PHACTR1 PIEZO2 PIGF PIGP PIGQ PLP1 PMPCB PNKP PNPT1 POMK PPP3CA PSAP PTS RALGAPA1 RARS1 RARS2 SCN1B SCN2A SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SELENON SIK1 SLC13A5 SLC16A2 SLC18A2 SLC18A3 SLC1A2 SLC25A1 SLC25A12 SLC25A22 SLC32A1 SLC35A2 SLC38A3 SLC39A8 SLC5A6 SLC5A7 SMN1 SNAP25 SNAP29 SPTBN2 SPTBN4 SUCLG1 SYNGAP1 SYNJ1 SYT2 SZT2 TIMMDC1 TMEM126B TMEM63A TNNT1 TPM2 TPM3 TRAK1 TREX1 TRIM8 TRIP4 TTN UBA5 UFC1 VAMP1 VARS1 VPS50 WARS2 WWOX YWHAG ZNF526 HP_POOR_MOTOR_COORDINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_MOTOR_COORDINATION AASS ACTA1 ADGRV1 ALMS1 ATP7B ATP9A BMPR1B BSCL2 CAMTA1 CLN5 CUX1 CXCR4 DARS2 DCC DCX DLK1 DMPK DNAL4 EZH2 FKRP FMR1 FOCAD FOXP2 FXN GABRA1 GABRD GABRG2 GCDH GDAP1 GMPPB GNB5 GNE HCN1 HERC2 HTT KBTBD13 KCNQ2 KLHL41 LARGE1 MAGEL2 MEG3 MFN2 MKRN3 MMACHC MTRFR MYPN NEB NPAP1 NTN1 PCDH19 PDHX PIEZO2 PMPCA POMT1 POMT2 PPP2R2B PRNP PWAR1 PWRN1 RAD51 RAI1 RDH11 RNU12 RTL1 SBF2 SCN1A SCN1B SCN2A SCN9A SIN3A SLC2A3 SLC30A10 SNORD115-1 SNORD116-1 STX1B THG1L TPM2 TPM3 VCP VPS13A ZEB2 HP_POOR_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SPEECH ADK ADPRS ALG9 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ASPA ATAD3A ATP10A ATP1A1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 BRF1 CAD CAMK2G CASZ1 CCDC22 CDC42 CDON CHKB CHMP1A CHMP2B CHSY1 CIC CLIC2 CNTNAP2 COG8 CSF1R CTNNB1 DAG1 DIAPH1 DISP1 DLAT DLL1 DOCK7 DYM DYRK1A EIF2S3 EXT2 FBXL3 FDXR FGF12 FGF8 FGFR1 FKRP FMN2 FOXH1 FOXP2 FOXRED1 FRMD4A GABRD GAMT GAS1 GATA4 GATAD2B GJC2 GLI2 GMPPB GNPTAB GPR88 GRN GUSB HDAC8 HEPHL1 HNRNPK HS6ST2 HSPG2 IFNG INPP5E IQSEC2 KANSL1 KAT6A KCNAB2 KIF14 KIF15 KMT2B LARGE1 LAS1L LRPPRC LUZP1 MAN1B1 MAPT MED13L MED25 MID1 MID2 MMP23B MRPS2 MTO1 NAA20 NAGS NALCN NDST1 NDUFA13 NDUFA6 NDUFS1 NGLY1 NODAL NONO NUBPL OCA2 ODC1 OPHN1 PAK1 PAK3 PDPN PIGC PIGH PLCH1 PLPBP POMK POMT1 POMT2 PPP1R15B PPP2R1A PPP2R5D PRDM16 PRKCZ PSEN1 PTCH1 PUS3 PYCR2 RAB39B RAC1 RERE RILPL1 RLIM RNASET2 RTTN SARDH SASS6 SATB2 SET SHH SIX3 SKI SLC19A3 SLC35A1 SLC39A14 SLC39A8 SLC6A17 SMARCA2 SMC1A SMC3 SNAP25 SNRPN SOBP SPEN SQSTM1 STAG2 STIL SYNGAP1 SYT1 TAF2 TAF6 TBCD TBCK TDGF1 TELO2 TGIF1 TMEM106B TRAPPC10 TRAPPC11 TREM2 TRIO TRMT10A TRMT5 TRRAP TSC1 TSC2 TUBB3 TUBB4A UBE2A UBE3A UBE4B UNC80 UQCC2 VCP VLDLR VPS11 WDR45 WDR73 WIPI2 YME1L1 ZEB2 ZIC2 ZNF148 HP_POOR_SUCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SUCK AASS AGRN ALG12 ARHGAP29 ARHGEF38 ARID1A ARV1 ASPA ATP6V0A1 ATP6V1B2 ATP7A ATPAF2 ATRX BMP4 BRAF CBL CDH1 CDON CHAT CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COBLL1 COL13A1 COL2A1 COLQ DHCR7 DISP1 DLG1 DLK1 DLL1 DLX4 DPYD DST DYRK1A ECHS1 FGF8 FGFR1 FOXH1 GAS1 GGPS1 GLI2 GLRA2 GNB2 GRHL3 HADHA HADHB HERC2 HRAS HTRA2 IDH1 IRF6 KIF5A KMT5B LAMB2 LYRM4 MAGEL2 MECP2 MEG3 MKRN3 MSX1 MT-TE MTM1 MYO9A NAA20 NADK2 NDUFS8 NECTIN1 NODAL NONO NPAP1 NUDT2 NUP214 OCA2 PDGFRA PEX12 PEX19 PEX2 PEX5 PLAA PLCH1 POGZ PPP1R21 PQBP1 PTCH1 PTPN23 PTS PWAR1 PWRN1 RAPSN RARS2 RERE RHBDF2 RIC1 RTL1 SATB2 SEPSECS SHH SIK1 SIM1 SIX3 SLC18A3 SLC25A1 SLC25A19 SLC25A22 SLC52A1 SLC5A7 SMARCB1 SMARCC2 SMC1A SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX11 SPTBN1 SPTBN4 STAG2 STIL SYT2 TALDO1 TBC1D24 TDGF1 TGIF1 TP63 TRIO TRMT10C TRMU TSEN15 TSEN2 TSEN34 TSEN54 TSFM UBA1 UBB UBE3A UGP2 UQCRC2 USP7 VAMP1 VRK1 ZIC2 ZNF699 HP_POOR_WOUND_HEALING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_WOUND_HEALING ADAMTS2 AEBP1 AIP ATL1 ATL3 ATRX BGN BRAF C1R CD46 CDH23 CEP104 CFH CFI COL12A1 COL1A1 COL1A2 COL5A1 COL5A2 DDR2 DPP9 DSE ELN F13A1 F13B F8 FBLN5 GBA1 GJA1 HELLPAR ITGB2 KIF22 LMNA NGF NR3C1 NTRK1 PLOD1 RAC2 SCN11A SERPINE1 SPTLC1 SPTLC2 TNXB TP53 USP48 USP8 HP_POPLITEAL_PTERYGIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POPLITEAL_PTERYGIUM BHLHA9 CHRNG CHUK GPC6 IRF6 MYH3 PITX1 RIPK4 HP_PORENCEPHALIC_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORENCEPHALIC_CYST ADAR ARHGAP31 COL4A1 COL4A2 COLGALT1 CPLANE1 DLL4 DOCK6 EOGT FGFR1 GPX4 HRAS IFIH1 KIF1A KRAS LAMB1 LSM11 NOTCH1 NRAS OFD1 PLOD3 RBPJ RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SNRPB TCTN3 TREX1 ZNHIT3 HP_POROKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POROKERATOSIS ANAPC1 FDPS MVD MVK PMVK RECQL4 RNU12 SLC17A9 HP_PORPHYRINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORPHYRINURIA CPOX GATA1 HMBS PPOX SLCO1B1 SLCO1B3 UROD UROS HP_PORTAL_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_FIBROSIS ABCB4 ABCD3 ADK ARG1 ATP7B CC2D2A CEP83 DCDC2 MYO5B PHKA2 PHKG2 PYGL RPGRIP1L SLC25A13 UNC45A WDR35 HP_PORTAL_INFLAMMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_INFLAMMATION ABCB4 FADD FOCAD MED12 SLC25A13 HP_PORTAL_VEIN_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_VEIN_THROMBOSIS CTNNB1 JAK2 KCNN4 MET MPL NOTCH1 PIEZO1 PIGM SERPINC1 SLC4A1 TET2 HP_POSITIONAL_FOOT_DEFORMITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIONAL_FOOT_DEFORMITY ABHD16A ACTA1 ADAT3 ADGRG6 ALDH18A1 ALDH1A2 ALG12 ALG14 ALG3 ALG8 ALG9 AMER1 AMMECR1 ANK1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARHGAP31 ARSI ARVCF ATAD1 ATAD3A ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRX B3GALT6 B3GAT3 B4GALT7 B9D1 B9D2 BAP1 BCOR BICD2 BIN1 BLTP1 BMPER BMPR1B BRD4 BRPF1 C12orf57 CACNA1B CACNA1C CANT1 CC2D2A CCBE1 CCDC47 CCNQ CD96 CEP290 CEP55 CHD7 CHMP1A CHN1 CHRM3 CHRNG CHST14 CHST3 CILK1 CLCN3 CLTCL1 CNTNAP1 COASY COG1 COG4 COG8 COL12A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMT COQ8A CPLX1 CREBBP CRIPT CRLF1 CSPP1 CTBP1 CTDP1 CTH CTNNA2 CTU2 DCHS1 DES DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DHX16 DLAT DLL4 DMPK DOCK6 DOK7 DONSON DPYS DSE DST DYM DYNC1H1 DYNC2H1 EBP ECEL1 EDEM3 EED EEF1A2 EHMT1 EIF2S3 EIF4A3 ELN ENTPD1 EOGT EP300 ERBB2 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 ERMARD ESCO2 ESS2 EVC EVC2 EXT1 EZH2 FA2H FANCL FAT4 FBLN5 FBN1 FBN2 FBXO7 FGD1 FGD4 FGFRL1 FHL1 FIBP FKBP10 FKBP14 FKTN FLI1 FLNA FLNB FLVCR2 FOXG1 FUZ GAD1 GAN GCH1 GDAP1 GDF5 GJA5 GJA8 GLB1 GLDN GLE1 GLI3 GNPTAB GORAB GP1BB GPC3 GPC4 GPX4 GRIA2 GSC GTPBP2 GUSB GZF1 H1-4 HAAO HACD1 HACE1 HBA1 HBA2 HDAC8 HIRA HK1 HNRNPK HRAS HSD17B4 HSPB1 HSPG2 HYLS1 IFIH1 IGHMBP2 IHH IL6ST IMPDH2 IPO8 IRF6 ITGA7 ITGA8 JMJD1C JPH1 KANSL1 KAT6B KDM5C KIDINS220 KIF1A KMT5B KY KYNU L1CAM LAMA5 LAMB2 LBR LETM1 LGI4 LIFR LIMS2 LMBR1 LMBRD1 LMNA LMX1B LONP1 MAFB MAN2B1 MAN2C1 MAP3K20 MAP3K7 MAPK1 MCTP2 MED13L MEGF10 MEGF8 MET MFN2 MFSD2A MKS1 MPZ MSX1 MTMR2 MTRFR MTTP MUSK MYBPC1 MYH3 MYH7 MYH8 MYL11 MYL2 MYMK MYMX MYO9A MYPN MYT1L NADSYN1 NALCN NDE1 NDRG1 NEB NECTIN1 NEDD4L NEFL NEK8 NEK9 NELFA NIPBL NKAP NKX3-2 NOTCH1 NR4A2 NSD1 NSD2 NT5C2 ORC1 ORC6 OTUD5 OTUD6B PAICS PDHA1 PEX1 PEX2 PEX26 PEX5 PI4KA PIEZO2 PIGB PIGG PIGL PITX1 PLA2G6 PLEKHG5 PLK4 PLOD1 PLOD2 PLOD3 PLXND1 PMP22 POLR3A POLR3GL POLRMT POR PPP3CA PRUNE1 PSAT1 PTEN PTRH2 PUF60 PYCR1 RAB11B RAB23 RAB3GAP2 RAD21 RAI1 RBM10 RBM8A RBPJ RECQL4 REEP1 REV3L RINT1 RIPK4 ROBO1 RPGRIP1 RPGRIP1L RREB1 RSPO2 RUSC2 RYR1 RYR3 SALL1 SALL4 SAMD9 SATB2 SBF2 SC5D SCARF2 SCN4A SCYL1 SEC24C SEC31A SELENON SEMA3E SETBP1 SETD2 SF3B4 SH3PXD2B SH3TC2 SHROOM4 SKI SLC25A19 SLC26A2 SLC31A1 SLC35A2 SLC35D1 SLC6A9 SMAD3 SMARCA2 SMARCAL1 SMC1A SMC3 SMOC1 SMS SNCA SNIP1 SNRPN SNX14 SOX9 SPECC1L SPEG SPTBN1 STAC3 STXBP1 SUZ12 SYNE1 SYT1 TAF1 TAF8 TAFAZZIN TBC1D23 TBX1 TBX15 TBX4 TCTN1 TCTN2 TCTN3 TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TH TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TNNI2 TNNT3 TOR1A TP63 TPM2 TPM3 TRAIP TRIM2 TRIP11 TRPM3 TRPS1 TRPV4 TSPOAP1 TTN TWIST1 TWIST2 TXNDC15 UBE2A UFD1 UNC80 USP8 VANGL1 VAPB VIPAS39 VPS33B VRK1 VWA1 WARS2 WDR73 WNT7A YME1L1 ZC4H2 ZFYVE27 ZIC3 ZNF148 ZNF699 ZSWIM6 HP_POSITIVE_ROMBERG_SIGN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIVE_ROMBERG_SIGN CAMTA1 FLVCR1 IRF2BPL KNSTRN LITAF MFN2 MTTP NEFL OPA3 PDXK PIK3CD PLD3 POLG POLR3A POU4F1 RFC1 RIPOR2 RNASEH1 RNF170 SH3TC2 SPG11 TBP TTPA TTR TWNK XRCC1 HP_POSTAXIAL_FOOT_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_FOOT_POLYDACTYLY ARL6 B9D1 B9D2 BBS1 BBS12 BBS2 BBS9 BMP4 C2CD3 CC2D2A CCDC28B CD96 CEP120 CEP290 CIBAR1 CSPP1 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EXTL3 GLI3 HOXD13 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E IQCE KIAA0753 KIAA0825 KIF7 LBR LMBR1 LZTFL1 MKKS MKS1 NEK1 NPHP3 OTUD5 PDE6D PLAA PRKACB RPGRIP1 RPGRIP1L SC5D SCNM1 SETD5 SMO SMOC1 SUFU TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC21B TXNDC15 WDR19 ZNF141 HP_POSTAXIAL_HAND_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_HAND_POLYDACTYLY AKT3 ALX3 ARL6 ARMC9 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BMPR1B C2CD3 CC2D2A CCDC28B CCND2 CD96 CEP120 CEP19 CEP290 CFAP418 CIBAR1 CPLANE1 CSPP1 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 FGFR2 FLNA GDF5 GLI2 GLI3 GPC3 GPC4 HOXA13 HYLS1 IFT140 IFT172 IFT27 IFT74 IFT80 INPP5E IQCE KIAA0753 KIAA0825 KIF7 LBR LMBR1 LZTFL1 MBTPS2 MEGF8 MKKS MKS1 NEK1 NPHP1 OFD1 OTUD5 PDE6D PIK3R2 PLAA PORCN PRKACB RAB23 RPGRIP1 RPGRIP1L SC5D SCAPER SCLT1 SCNM1 SDCCAG8 SETBP1 SMO SMOC1 SUFU TBX3 TCTN1 TCTN2 TCTN3 TGFBR1 TMCO1 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TTC21B TTC8 TXNDC15 WDPCP WDR19 WDR35 WNT7A ZNF141 HP_POSTAXIAL_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_POLYDACTYLY AKT3 ALX3 ARL6 ARMC9 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BHLHA9 BMP4 BMPR1B C2CD3 CC2D2A CCDC28B CCND2 CD96 CEP120 CEP19 CEP290 CFAP418 CHST11 CIBAR1 CILK1 COG6 CPLANE1 CRB2 CSPP1 CTU2 DDX59 DHCR7 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EBP EVC EVC2 EXTL3 FGFR2 FLNA GATA6 GDF5 GDF6 GLI1 GLI2 GLI3 GPC3 GPC4 H3-3B HNRNPK HOXA13 HOXD13 HYLS1 IFT140 IFT172 IFT27 IFT43 IFT52 IFT57 IFT74 IFT80 IFT81 INPP5E INTU IQCE KIAA0586 KIAA0753 KIAA0825 KIF3B KIF7 LBR LMBR1 LZTFL1 MBTPS2 MEGF8 MKKS MKS1 NCAPG2 NEK1 NKX2-5 NKX2-6 NPHP1 NPHP3 OFD1 OTUD5 PDE6D PIK3R2 PLAA PORCN PPP2R1A PRKACA PRKACB RAB23 RBBP8 RBM10 RPGRIP1 RPGRIP1L SC5D SCAPER SCLT1 SCNM1 SDCCAG8 SETBP1 SETD5 SMO SMOC1 SUFU SYNGAP1 TBX1 TBX3 TCTN1 TCTN2 TCTN3 TGFBR1 TGFBR2 TMCO1 TMEM107 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRIM32 TTC21B TTC26 TTC8 TXNDC15 UQCC2 USP9X WDPCP WDR19 WDR35 WNT7A ZNF141 HP_POSTERIORLY_ROTATED_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIORLY_ROTATED_EARS ACAN ACTG2 ADAMTS18 ADNP AFF4 AHI1 ALG9 ALX1 ALX3 AMER1 ANKRD11 AP1G1 AP3B1 ARID1B ARID2 ARL6 ASXL1 ASXL2 ASXL3 ATN1 ATRX B3GALNT2 B3GALT6 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11B BCL7B BCOR BICRA BLTP1 BMP2 BMP4 BRAF BRD4 BUB1 BUB1B BUB3 BUD23 C2CD3 CAMKMT CAMTA1 CANT1 CASZ1 CBL CC2D2A CCNK CD96 CDC42 CDC45 CDC6 CDH11 CDH2 CDK10 CDK13 CDT1 CEP120 CEP19 CEP290 CEP41 CEP57 CFAP418 CHD5 CHD7 CHD8 CHMP1A CHST14 CLCN3 CLIP2 COG1 COG5 COL11A2 COL2A1 COL4A1 COX7B CPLANE1 CPLX1 CPT2 CRPPA CSGALNACT1 CSPP1 CTBP1 CTCF CTNND2 DAG1 DDR2 DHCR24 DHCR7 DHODH DHX16 DHX30 DIS3L2 DLK1 DLL3 DNAJC30 DOK7 DPF2 DSE DVL1 DVL3 EBF3 EBP ECE1 EDN1 EED EIF3F EIF4H ELN EP300 ERCC1 ERMARD ESCO2 EXOSC2 EXT1 EZH2 FAM149B1 FAM20C FBN1 FBXO11 FDFT1 FGD1 FGFR1 FGFR2 FHL1 FKBP6 FKRP FKTN FLI1 FLNA FN1 FRA10AC1 FRAS1 FREM1 FREM2 FRMD4A FZD2 GABRD GALNT2 GBA1 GLE1 GLI3 GMNN GNAI3 GNB1 GPC3 GPC4 GPC6 GPRASP2 GPT2 GPX4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C9 HBA1 HBA2 HDAC8 HERC1 HES7 HOXB1 HOXD13 HRAS HS2ST1 HS6ST2 HSPG2 HUWE1 HYLS1 IFT140 IFT172 IFT27 IFT74 IL6ST INPP5E INPPL1 IPO8 ITCH KAT6A KAT6B KCNAB2 KCNH1 KCTD1 KDM4B KDM6A KIAA0586 KIAA0753 KIF21A KIF7 KMT2B KMT2D KRAS LARGE1 LETM1 LFNG LIG4 LIMK1 LRP2 LUZP1 LZTFL1 LZTR1 MAB21L1 MAD1L1 MAF MAP1B MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MBTPS1 MED12 MEG3 MEGF8 MESD MESP2 METTL27 METTL5 MGAT2 MID1 MITF MKKS MKS1 MLXIPL MMP23B MN1 MPDZ MRAS MRPS14 MRPS22 MRPS28 MUSK MVK MYCN MYH3 MYMX MYOD1 NAA10 NAA20 NALCN NCF1 NELFA NF1 NFIX NIPBL NOTCH3 NPHP1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NSUN2 NUP88 NXN OCRL OFD1 ORC1 ORC4 ORC6 OTUD5 OTX2 PAX7 PDE4D PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PIEZO2 PIGB PIGG PIGN PIGS PIGU PIGV PLAA PLCB4 PNPLA6 POC1A POGZ POLE POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPM1B PPM1D PPP1CB PPP2R3C PRDM16 PREPL PRKAR1B PRKCZ PRRX1 PTPN11 PUF60 PYCR1 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RALA RAPSN RASA2 RBM10 RBM8A RECQL4 RERE RFC2 RFX7 RIPPLY2 RIT1 RMRP RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPS26 RPS28 RRAS RRAS2 RTL1 RTTN RUSC2 RXYLT1 SATB1 SATB2 SCAPER SCARF2 SCLT1 SDCCAG8 SEMA3E SEMA5A SET SF3B4 SHOC2 SIAH1 SIX2 SKI SLC18A3 SLC25A24 SLC26A2 SLC3A1 SMAD2 SMARCA2 SMARCD2 SMC1A SMC3 SMG8 SMG9 SMOC1 SMPD4 SNRPB SOD1 SOS1 SOS2 SOX11 SOX4 SOX5 SPEN SPOP SPRED1 SPRED2 SRCAP SRY STX1A SUPT16H SUZ12 TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBR1 TBX15 TCF20 TCTN1 TCTN2 TCTN3 TFAP2A TFE3 TGDS TLK2 TMCO1 TMEM107 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM94 TOGARAM1 TOPORS TRIM32 TRIP13 TRPS1 TRPV4 TRRAP TTC8 TUBA1A TUBB TXNDC15 UBE4B UMPS UNC80 USP9X VPS37D WAC WDPCP WNT5A XYLT1 XYLT2 YY1 ZC4H2 ZEB2 ZMYM2 ZNF148 ZNF423 ZNF699 HP_POSTERIOR_BLEPHARITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_BLEPHARITIS GATA1 GJB2 GJB6 MBTPS2 SREBF1 UROD UROS HP_POSTERIOR_FOSSA_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_FOSSA_CYST ABAT CSPP1 DPH1 DPH2 ERCC5 FGFR2 FKRP FKTN GDF6 LARGE1 PDGFRB PLCH1 POMT1 POMT2 PUF60 SNORD118 VSX1 WASHC5 HP_POSTERIOR_HELIX_PIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_HELIX_PIT CDKN1C EP300 GPC3 GPC4 IGF2 KCNQ1 KCNQ1OT1 HP_POSTERIOR_PHARYNGEAL_CLEFT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PHARYNGEAL_CLEFT CD19 CD81 CR2 ICOS IRF2BP2 MID1 MS4A1 NFKB1 NFKB2 PRKCD TNFRSF13B TNFRSF13C TNFSF12 HP_POSTERIOR_PITUITARY_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PITUITARY_DYSGENESIS ADGRG1 CDON DYRK1A ERF FOXA2 GLI2 GPR161 HESX1 KIAA0753 LHX3 LHX4 MTHFR OTX2 PI4KA POU1F1 PROKR2 PROP1 PUF60 ROBO1 SOX3 SRPX2 TBX3 VANGL2 WDR11 HP_POSTERIOR_PLAGIOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PLAGIOCEPHALY ADNP ALG12 CACNA2D1 CAMK2A CDC42BPB GRIA1 RFX7 HP_POSTERIOR_POLAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_POLAR_CATARACT APC BBS2 CRYAB EPHA2 ITM2B PITX3 VIM ZBTB20 HP_POSTERIOR_RIB_CUPPING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_RIB_CUPPING BGN COL11A1 DDR2 INPPL1 MATN3 HP_POSTERIOR_STAPHYLOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_STAPHYLOMA ARL2 BEST1 CFAP410 HADHA IMPG2 MC1R OCA2 PIGT HP_POSTERIOR_SUBCAPSULAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SUBCAPSULAR_CATARACT ADAMTS18 ALMS1 ARL2BP ARL3 CFAP410 CHMP4B CNBP EYS GJA8 IDH3B IMPDH1 IMPG2 LCA5 LRAT NF2 NR2E3 OAT OFD1 OPA3 PDE6A POLR3GL PRPF6 RBP3 REEP6 RPE65 SCAPER SPATA7 SPRTN TONSL TULP1 UNC45B XYLT2 ZNF408 HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER ADAMTS17 ATOH7 CYP1B1 FOXC1 FOXE3 HMX1 LARGE1 LCA5 LRAT MIR204 RPE65 SPATA7 HP_POSTERIOR_UVEITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_UVEITIS BCL10 BIRC3 FOXP1 MALT1 NOD2 HP_POSTEXERTIONAL_SYMPTOM_EXACERBATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTEXERTIONAL_SYMPTOM_EXACERBATION BICD2 COL9A1 COL9A2 COL9A3 COMP KCNE1 KCNQ1 NPPA PYGL PYGM SCN5A SLC22A12 SLC2A9 SVIL HP_POSTNATAL_GROWTH_RETARDATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_GROWTH_RETARDATION ACTB ADAMTS2 ADAMTS3 AKR1D1 ALDH18A1 ANKRD17 ANKRD55 ARG1 ARID1A ARID1B ARID2 ARSL ATP6V0A2 ATP6V1A ATP6V1E1 ATP9A ATR ATRX B3GALT6 B3GLCT BLM BNC2 BRAF BRD4 BRIP1 BUB1B CACNA1C CASK CBL CCBE1 CCDC22 CD247 CDAN1 CDC42 CDK10 CDKN1C CHD1 CHD7 CKAP2L COG1 COG4 COG7 COLEC10 COLEC11 COQ7 CPLX1 CREBBP CTBP1 CTC1 CTNNB1 CUL7 CYP11B2 CYP27B1 CYP2R1 DCX DDX11 DDX3X DHODH DLK1 DMXL2 DNAJC19 DPF2 DPYSL5 DYM EBP ELAC2 ELN EMG1 EP300 EPB41 EPG5 ERCC4 ERCC6 ERCC8 ESCO2 FAM111A FAT4 FBLN5 FGFRL1 FIG4 FLNA FLNC FOXP2 FRA10AC1 GATA3 GHSR GINS1 GJB2 GJB6 GM2A GNA11 GNPTAB GRB10 GUSB GYPC H19 HDAC8 HLA-DQA1 HLA-DQB1 HMGA2 HYMAI IARS1 IGF1 IGF2 IGFALS IL2RA IL2RB INSR KANSL1 KCNJ6 KDM6A KIF15 KIF20A KIF7 KMT2A KMT2D LARP7 LETM1 LHX4 LIG4 LMNA MAF MAP2K1 MASP1 MBD5 MCM4 MCTP2 MED12 MEG3 MGAT2 MTRR MTX2 MYH3 MYPN NAA10 NAE1 NALCN NBAS NDE1 NEXMIF NIN NIPBL NSD2 NSUN2 OCRL PALB2 PAM16 PAPPA2 PCNT PCYT1A PDE4D PHKB PHKG2 PIEZO2 PLAG1 PLAGL1 PLOD3 POU1F1 POU3F4 PPP1R15B PRIM1 PRKAR1A PSPH PTPN11 PTPN2 PTPN22 PTRH2 PYGL RAB18 RAB3GAP2 RAD21 RERE RNPC3 RNU4ATAC ROBO1 RPL10 RPL13 RTEL1 RTL1 RYR1 SALL4 SATB2 SCUBE3 SEC24D SEMA3E SETBP1 SHPK SIN3A SIX6 SLC2A1 SLC2A2 SLC4A2 SLC5A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SNRPB SOX11 SOX2 SOX4 SPTA1 SPTB STAT4 STAT5B SYNE1 TAF1 TBC1D20 TBCE TCEAL1 TCF4 TFAP2A TGDS TMCO1 TNNI3 TNNT2 TRAPPC2 TRMT10A TSHB TUBB3 UFSP2 UQCC3 VAC14 VPS35L WASHC5 WFS1 XYLT1 HP_POSTNATAL_MACROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_MACROCEPHALY FAM111A GNB1 MED12 PAK1 PTEN SETD2 HP_POSTPRANDIAL_HYPERGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTPRANDIAL_HYPERGLYCEMIA CACNA1S GABRA3 GYS2 INSR KCNE3 KCNJ18 SCN4A SHPK SLC2A2 HP_POSTTERM_PREGNANCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTTERM_PREGNANCY DUOX2 MAGEL2 NDN OCA2 SNRPN HP_POSTURAL_INSTABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_INSTABILITY ABCC6 ABCC9 ADAT3 ADH1C ALDH18A1 ATN1 ATP13A2 ATP1A2 ATP1A3 ATXN2 ATXN3 ATXN8OS CACNA1A CACNA1C CACNB4 CHCHD2 CLN5 COL4A1 COQ2 CSF1R CXCR4 DDHD1 DNAJC13 DNAJC6 EIF4G1 ENPP1 ERCC1 ERCC4 ERCC6 ERCC8 EZH2 FAR1 FBXO7 GARS1 GBA1 GIGYF2 GLUD2 HTRA2 KCNA1 KCNC3 KCND3 KCNQ2 LCA5 LRAT LRRK2 MAPT MME MT-TT NF2 NIPA1 NIPA2 NPHP1 NR4A2 OPHN1 PARK7 PDGFB PDGFRB PINK1 PLA2G6 PMP22 PNKP PODXL POU3F3 PRKAR1B PRKN PRRT2 RAB39B RFC1 RNASEH1 RPE65 RUBCN SCN1A SCN2A SDHA SLC20A2 SLC30A10 SNCA SNCAIP SPATA7 SPG7 STUB1 SYNJ1 TAF1 TBP TIMM8A TRPC3 TUBG1 UCHL1 VPS13C VPS35 HP_POSTURAL_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_TREMOR ALDH18A1 ANO3 ATP13A2 ATXN1 ATXN2 BSCL2 CACNA1G CARS2 COL6A3 COQ2 CYP7B1 DNAJC30 DRD3 FGF14 FMR1 FUS GALT GCH1 GRIK2 IMPDH2 ITPR1 KCND3 LMNB1 MFN2 MPZ MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MYBPC1 NDRG1 NDUFS2 NIPA1 NOTCH2NLC NPTX1 NR4A2 OPA3 PARK7 PDGFB PIGA PIK3R5 PLA2G6 PMP22 POLR3A POLR3B PPP2R2B PRDX3 PRKRA REEP2 RILPL1 SCARB2 SETX SPG11 STUB1 TENM4 TH TMEM240 TPP1 TSPOAP1 TUBB4A UCHL1 VAPB HP_POST_PARTUM_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POST_PARTUM_HEMORRHAGE DIAPH1 DTNBP1 F10 F13A1 F13B F2 F5 F7 F8 IKZF5 KIF23 RACGAP1 SERPINE1 HP_PREAXIAL_FOOT_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_FOOT_POLYDACTYLY CPLANE1 CPLX1 CTBP1 FGFR2 FGFRL1 GLI3 HOXD13 IFT172 KIF7 LETM1 LMBR1 MEGF8 NEK1 NSD2 PITX1 RAB23 SMO ZSWIM6 HP_PREAXIAL_HAND_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_HAND_POLYDACTYLY B9D1 B9D2 BHLHA9 CC2D2A CDC45 CEP290 CHN1 CPLANE1 CPLX1 CSPP1 CTBP1 DACT1 DYNC2H1 DYNC2I1 DYNC2I2 EFTUD2 EXTL3 FANCD2 FGFR2 FGFRL1 GJA1 GLI1 GLI3 HEATR3 HEPACAM HOXD13 HYLS1 IFT80 KIF7 LETM1 LMBR1 MAFB MKS1 NEK1 NELFA NSD2 OFD1 PHF8 PIGG PTEN PUF60 RPGRIP1 RPGRIP1L SALL1 SALL4 SMO TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WDR35 ZNF699 HP_PREAXIAL_POLYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_POLYDACTYLY B9D1 B9D2 BHLHA9 C2CD3 CC2D2A CDC45 CENPF CEP120 CEP290 CEP41 CHN1 CILK1 CNTNAP2 COLEC10 CPLANE1 CPLX1 CSPP1 CTBP1 CTU2 DACT1 DYNC2H1 DYNC2I1 DYNC2I2 EFTUD2 EXTL3 FAM149B1 FANCD2 FGFR2 FGFRL1 FLNA GJA1 GLI1 GLI3 HEATR3 HEPACAM HOXD13 HYLS1 IFT172 IFT43 IFT57 IFT80 INTU KIAA0586 KIAA0753 KIF7 LETM1 LMBR1 MAFB MEGF8 MKS1 NEK1 NEK9 NELFA NSD2 OFD1 PDE6D PHF8 PIGG PITX1 PTEN PUF60 RAB23 RNU4ATAC RPGRIP1 RPGRIP1L SALL1 SALL4 SMO TCTN1 TCTN2 TCTN3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TOPORS TXNDC15 WDR35 ZNF699 ZSWIM6 HP_PRECOCIOUS_ATHEROSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_ATHEROSCLEROSIS ABCG5 ABCG8 APOA5 APOB CETP CYP27A1 LDLR LDLRAP1 LMNA LPL PCSK9 TNXB HP_PRECOCIOUS_PUBERTY_IN_FEMALES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_PUBERTY_IN_FEMALES AGPAT2 ALMS1 BSCL2 CAV1 CAVIN1 CYP17A1 FOS GRIA1 PPARG TP63 HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA ANGPT2 CELSR1 DNMT1 EPHB4 FLT4 FOXC2 GJC2 PIEZO1 SOX18 HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT ADCY1 ATP2B2 CDH23 ESPN GIPC3 GJB2 GJB6 HGF IARS2 IGF1 MARVELD2 RIPOR2 TIMM8A HP_PREMATURELY_AGED_APPEARANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURELY_AGED_APPEARANCE AARS1 ABCC6 ACD ADAMTS2 ADAMTSL2 AEBP1 ALDH18A1 ALG8 ANTXR1 AP2M1 ATM ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRIP B4GALT7 BANF1 BAZ1B BCL7B BRAF BRCC3 BUD23 C1R CARS1 CAV1 CDH11 CENPE CENPJ CEP152 CFTR CHD2 CLIP2 COG4 COG5 COG7 COL1A1 COL3A1 COL5A1 COL5A2 CSTA CTC1 CYP27A1 DKC1 DNA2 DNAJC30 DPP9 DSTYK EDA EDAR EDARADD EDN3 EDNRB EIF4H ELN ENPP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOSC2 FAS FBLN5 FBN1 FGFR2 FGFR3 FKBP6 GHR GJB2 GJB6 GORAB GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H4C5 INSR KCNJ6 KITLG KRAS LIFR LIMK1 LMNA LMNB2 LTBP4 LZTR1 MAP2K1 MAP2K2 MDM2 MED12 METTL27 MITF MLXIPL MPLKIP MRAS MRPS2 MTAP MTX2 MYO5A NAA10 NAF1 NCF1 NEXMIF NHP2 NOP10 NPM1 NUP85 PARN PAX3 PCNA PCNT PDGFRB PIK3R1 PLK4 PLOD1 POLR3A PSMB8 PTDSS1 PTEN PTPN11 PTPN22 PYCR1 RAB27A RAB3GAP1 RAB3GAP2 RAF1 RBBP8 RECQL RECQL4 RFC2 RIT1 RNF113A RPA1 RTEL1 SCN1A SLC25A24 SLC2A1 SLC2A10 SLC5A6 SLC6A1 SMARCA2 SNAI2 SOX10 SPRTN STN1 STUB1 STX1A SYNGAP1 TALDO1 TARS1 TBL1XR1 TBL2 TERC TERT TFAP2A TGM5 TINF2 TMEM270 TOR1A TRAIP TWIST2 TYMS TYR USB1 VPS37D WRAP53 WRN ZMPSTE24 ZNF469 ZNF699 HP_PREMATURE_ADRENARCHE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ADRENARCHE CYP11B1 GRB10 HSD3B2 MAGEL2 NDN OCA2 SIM1 SNRPN USP7 HP_PREMATURE_ARTERIOSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ARTERIOSCLEROSIS ABCG5 ABCG8 APOB LDLR LDLRAP1 LMNA PCSK9 WRN HP_PREMATURE_ATRIAL_CONTRACTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ATRIAL_CONTRACTIONS CITED2 GJA5 KCNA5 KCNE2 NAA10 SCN5A TTN HP_PREMATURE_BIRTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_BIRTH ABCA12 ABCA3 ABCB11 ABCB4 ACTA1 ADAMTS2 AIMP1 ALB ALG12 ALG8 ARHGAP31 ASCC1 ASNS ATP8B1 B4GALT1 BCR BRAF BRD4 BSND CCDC47 CDON CLCN7 CLCNKA CLCNKB CNOT1 CNTN1 COL11A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COPB2 CRB2 CRKL CYP11A1 DCLRE1B DHCR7 DHPS DISP1 DLK1 DLL1 DLL4 DMPK DOCK6 EOGT ESCO2 FBN1 FCSK FDXR FGF8 FGFR1 FIG4 FLI1 FLNB FLVCR2 FOXH1 FZD4 GALK1 GAS1 GATB GATC GBA1 GLB1 GLI2 GON7 HBB HDAC8 HOXD13 HRAS HYLS1 IGHMBP2 KCNJ1 KIF7 KLHL40 KLHL41 KRAS LAGE3 LMNA LMOD3 LRP5 LTBP3 MAGED2 MAP2K1 MAP2K2 MAPK1 MED12 MEG3 MTM1 MUSK MYH7 NDP NDUFB11 NDUFB3 NEB NIPBL NLRP3 NODAL NOTCH1 NR1H4 NUP107 NUP133 OSGEP PAX2 PBX1 PCDH12 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPO PTCH1 PTH1R QRSL1 RAD21 RALGAPA1 RBPJ RNU4ATAC RPL10 RPS19 RTL1 SARS2 SATB1 SERPINE1 SF3B4 SFTPB SFTPC SHH SIX3 SKIC2 SLC12A1 SLC16A2 SLC17A5 SLC26A3 SLC27A4 SMARCAL1 SMC1A SMC3 SMPD4 STAT2 STRADA SUFU TDGF1 TGIF1 THOC2 TMEM70 TP53RK TPM3 TPRKB TRIP4 TSHR VARS1 WARS2 WDR4 WDR62 WDR73 YARS1 YRDC ZIC2 ZMPSTE24 ZNF699 HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS ABCA1 ABCG5 ABCG8 ACTA2 APOA1 APOB APOE CEP19 CYP27A1 ERCC6 ERCC8 GPIHBP1 LDLR LDLRAP1 LIPC LMNA LRP6 MEF2A PCSK9 HP_PREMATURE_GRAYING_OF_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_GRAYING_OF_HAIR ACD ATM BRCC3 CTC1 DKC1 DPP9 DSTYK EDN3 EDNRB ELN ERCC6 ERCC8 FAS INSR KITLG LMNA MDM2 MITF MLXIPL MTAP MYO5A NAF1 NHP2 NOP10 NPM1 PARN PAX3 PSMB8 PTPN22 RAB27A RECQL4 RPA1 RTEL1 SLC5A6 SNAI2 SOX10 SPRTN STN1 TERC TERT TFAP2A TINF2 TYMS TYR USB1 WRAP53 WRN ZNF699 HP_PREMATURE_LOSS_OF_PERMANENT_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PERMANENT_TEETH ALPL CAT ELANE ITGB4 LRP4 RSPO1 TP63 HP_PREMATURE_LOSS_OF_PRIMARY_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH ALPL C1R C1S CLCN7 COL3A1 CSTB CTSC EDAR EDARADD FERMT1 FIG4 GJA1 KDF1 PRKD1 SNX10 TCIRG1 TNFSF11 TRAF6 VAC14 VDR WNT10A HP_PREMATURE_LOSS_OF_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_TEETH AEBP1 ALPL C1R C1S CAT CDH11 CLCN7 CLPB COL3A1 CSTB CTSC CYP27A1 DKC1 EDAR EDARADD ELANE ERCC4 FERMT1 FIG4 GFI1 GJA1 ITGB4 KDF1 KRT14 LMNA LRP4 MIA3 NOTCH2 NTRK1 PARN PIGT PLEKHM1 POLR3A PRKD1 RBM28 RSPO1 RUNX2 SASH1 SEC23A SH3PXD2B SLC35C1 SNX10 SRP19 SRP54 TCIRG1 TERC TERT TINF2 TNFRSF11A TNFRSF11B TNFSF11 TP63 TRAF6 VAC14 VDR WNT10A ZMPSTE24 HP_PREMATURE_OSTEOARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OSTEOARTHRITIS ACAN COL11A2 COL1A1 DDRGK1 FBN1 KIF22 MATN3 SLC26A2 TRAPPC2 TRPV4 HP_PREMATURE_OVARIAN_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OVARIAN_INSUFFICIENCY AARS2 AGK AIRE ANAPC1 ANAPC7 B4GALNT1 BLM BMP15 BNC1 C14orf39 CASP10 CEP164 CEP290 CHP1 COL25A1 DCAF17 DIAPH2 EIF2B1 EIF2B2 ERAL1 ERCC4 FAS FASLG FIGLA FMR1 FOXL2 FSHR GALK1 GALT GGPS1 HFM1 HSF2BP INVS IQCB1 LARS2 LMNA MCM3AP MCM8 MRPS22 MSH4 NBN NOBOX NPHP1 NPHP3 NPHP4 NR5A1 NUP107 PMM2 POF1B POLG POLG2 POLR3H PRKCD PSMC3IP RASGRP1 RCBTB1 RIN2 SDCCAG8 SPIDR STAG3 THOC6 TRAF3IP1 TTI2 TWNK WDR19 XRCC2 ZFHX4 ZSWIM7 HP_PREMATURE_PUBARCHE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_PUBARCHE AIP CYP11B1 HSD11B1 HSD3B2 MAGEL2 MEN1 MKRN3 NDN OCA2 PAPSS2 SIM1 SNRPN TANGO2 HP_PREMATURE_RUPTURE_OF_MEMBRANES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_RUPTURE_OF_MEMBRANES ADAMTS2 ADNP ATP6V0A2 COL1A1 COL3A1 COL5A1 COL5A2 DEF6 FGFR3 LEMD2 MED12 PLOD1 RBM10 RSPRY1 SERPINH1 ZMPSTE24 HP_PREMATURE_SKIN_WRINKLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_SKIN_WRINKLING ABCC6 ACD ADAMTS2 ADAMTSL2 ALDH18A1 ALG8 AP2M1 ATP6V0A2 ATP6V1A ATP6V1E1 BRAF C1R CAV1 CDH11 CFTR CHD2 COG5 COG7 COL3A1 CSTA DKC1 EDA EDAR EDARADD ELN ENPP1 FBLN5 FGFR2 FGFR3 GORAB H4C5 KCNJ6 KRAS LIFR LMNA LZTR1 MAP2K1 MAP2K2 MED12 MRAS MRPS2 NAA10 NEXMIF PARN PIK3R1 PLOD1 POLR3A PTEN PTPN11 PYCR1 RAF1 RIT1 RTEL1 SCN1A SLC25A24 SLC2A1 SLC6A1 SMARCA2 SYNGAP1 TALDO1 TBL1XR1 TERT TGM5 TINF2 TOR1A TWIST2 ZMPSTE24 ZNF469 HP_PREMATURE_THELARCHE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_THELARCHE CREBBP CYP11B1 DYRK1A EIF5A EP300 KDM6A KMT2D MKRN3 MMP14 MMP2 TANGO2 HP_PREMATURE_VENTRICULAR_CONTRACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_VENTRICULAR_CONTRACTION CACNA1S CALM1 CALM2 CASQ2 CDH2 CNBP DOHH DPP6 DSG2 DSP JUP KCNE1 KCNJ2 KCNJ5 NAA10 NFIX PKP2 RYR1 RYR2 SCN5A SLC25A20 TECRL TMEM43 TNNI3K TOR1AIP1 TRDN VEZF1 HP_PRENATAL_DEATH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_DEATH ALB ALPL BIN1 CALCRL CENPF CEP120 CEP55 CLN8 COL11A1 COL2A1 DLK1 DNM2 ENG ESCO2 FCGR3B FGA FGB FGG FLNA FLNB GBA1 GDF5 GRIP1 HBB HOXA13 HSPG2 HYLS1 IL6ST JAK2 LBR LGI4 MEG3 MGP MPL MTMR14 MUSK MYF6 NEK8 NLRP7 NSD2 NSDHL NUP88 OSTM1 PHGDH PITX1 PLIN1 PLXND1 POR PTH1R RAD51C REC114 RHAG RHCE RHD RMND1 RNU4ATAC RTL1 RYR1 SERPINC1 SERPINE1 SLC26A2 SLC35D1 THPO TRIP11 WRN WT1 ZMPSTE24 HP_PRENATAL_MOVEMENT_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_MOVEMENT_ABNORMALITY AARS1 ACTA1 ACTL6B ADCY6 ADGRG6 AGRN ALDH7A1 ALG14 ALG8 ALG9 AP3B2 ARV1 ASCC1 ASCL1 ASNS ATP1A2 ATP1A3 ATP6V1A B3GLCT BICD2 BIN1 BRD4 CACNA1A CACNA1B CACNA2D1 CAMKMT CCDC174 CCDC47 CDC42BPB CDK19 CELF2 CHAT CHRNA1 CHRND CHRNE CHRNG CHUK CLPB CLTC CNKSR2 CNTN1 CNTNAP1 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COX15 CPLX1 CPSF3 CRPPA CTBP1 CYFIP2 DALRD3 DEAF1 DHCR7 DHDDS DMPK DNA2 DNM1 DNM1L DNM2 DOCK6 DOK7 DPAGT1 DPH5 DPYSL5 EBF3 EEF1A2 ERBB3 ERCC5 ERGIC1 EXOSC9 FBXO28 FGF12 FGF13 FGFR3 FGFRL1 FKBP14 FLII FXR1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GBA1 GBE1 GFPT1 GGPS1 GLDN GLE1 GLRB GMPPB GNB2 GOSR2 GPKOW GRIN2D H19 H4C3 HACD1 HCN1 HDAC8 HERC2 HSPG2 IGF2 IGHMBP2 IL2RB IQSEC2 ITGA7 KBTBD13 KCNA2 KCNB1 KIF21A KIF5C KLHL40 KLHL41 LETM1 LGI4 LMNA LMOD3 MAGEL2 MAP3K20 MAP3K7 MEGF10 MKRN3 MPZ MTM1 MTMR14 MUSK MYCN MYF6 MYH3 MYL1 MYL2 MYMK MYO9A MYOD1 MYPN NAA10 NAA20 NALCN NDN NEB NECAP1 NEK9 NELFA NEXMIF NFASC NIPBL NPAP1 NSD1 NSD2 NTRK2 NUP188 NUP88 NUS1 OCA2 ODC1 PACS2 PARS2 PAX7 PEX19 PEX3 PGAP2 PHGDH PHOX2B PIGG PIGS PLOD1 PLPBP POLR2A PPM1B PPP3CA PREPL PRUNE1 PSAT1 PTRH2 PWAR1 PWRN1 RAD21 RAI1 RAPSN RET RIPK4 RYR1 SCN3A SCN4A SCN8A SCYL2 SELENON SHQ1 SLC13A5 SLC16A2 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A26 SLC38A3 SLC3A1 SLC5A7 SMC1A SMC3 SMN1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOX10 SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TBCK TMCO1 TNNC2 TOR1A TPM2 TPM3 TRAIP TRAK1 TRIP4 TRPV4 TSFM TUBA1A UBA1 UBA5 UNC45B USP7 VAMP1 VPS13B WDR62 WWOX YWHAG ZBTB42 ZC4H2 ZMPSTE24 HP_PRIMARY_ADRENAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_ADRENAL_INSUFFICIENCY AAAS ABCD1 AIRE AKT1 BAP1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 GATB GATC GLI3 HSD11B2 HSD17B4 HSD3B2 KANSL1 MC2R MRAP MRPS7 NF2 NFKB2 NNT NR0B1 NR3C1 NR3C2 PCSK1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA POMC POR QRSL1 ROBO1 SCNN1A SCNN1B SCNN1G SERPINA6 SMARCB1 SMARCE1 SMO STAR SUFU TBX19 TCTN3 TERT TRAF7 TXNRD2 HP_PRIMARY_AMENORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_AMENORRHEA ANOS1 AR AXL BMP15 BMPR1B BNC1 BRD4 CAV1 CCDC141 CDON CHD7 CISD2 CLPP CPE CTDP1 CYB5A CYP17A1 CYP19A1 DCC DHH DHX37 DMRT3 DUSP6 EIF2B1 EIF2B4 ERAL1 ESR1 ESR2 FEZF1 FGF17 FGF8 FGFR1 FIGLA FLRT3 FSHB FSHR GALT GATA3 GATA4 GDF9 GNRH1 GNRHR GPR161 HDAC8 HERC2 HESX1 HS6ST1 HSD17B4 IL17RD ITGA8 KISS1 KISS1R LARS2 LEP LEPR LHX4 MAGEL2 MAP3K1 MCM8 MCM9 MKRN3 MRPS22 MSH4 MSTO1 NDN NDNF NHLH2 NIN NIPBL NOBOX NPAP1 NR0B1 NR5A1 NSMF NUP107 OCA2 PCSK1 PEX1 PEX6 POF1B POLG POLR3H POR PPARG PROK2 PROKR2 PRORP PSMC3IP PWAR1 PWRN1 RAD21 RNF216 ROBO1 SEMA3A SEMA3E SIM1 SMC1A SMC3 SMCHD1 SNORD115-1 SNORD116-1 SNRPN SOHLH1 SOX10 SOX9 SPIDR SPRY4 SRA1 SRY STAG3 SYCE1 TAC3 TACR3 TP63 TRMT10A TWNK VAMP7 WDR11 WNT4 WT1 WWOX YARS1 ZFPM2 ZSWIM7 HP_PRIMARY_CONGENITAL_GLAUCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_CONGENITAL_GLAUCOMA ADAMTSL1 CYP1B1 LMX1B LTBP2 RPS19 TEK HP_PRIMARY_GONADAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_GONADAL_INSUFFICIENCY CYB5A CYP17A1 DHX37 DMRT3 EIF2B1 GATA4 MAP3K1 NR0B1 NR5A1 NSMCE2 SOX9 SRY VAMP7 WFS1 WT1 WWOX XRCC4 ZFPM2 HP_PRIMARY_HYPERALDOSTERONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERALDOSTERONISM CACNA1D CLCN2 CLCNKB CYP11B1 CYP11B2 KCNJ5 SCNN1A SCNN1B SCNN1G SLC12A3 HP_PRIMARY_HYPERCORTISOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERCORTISOLISM CBX2 CDKN1A CDKN1B CDKN2B CDKN2C GNAS MEN1 PDE11A PRKACA PRKAR1A HP_PRIMARY_HYPERPARATHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERPARATHYROIDISM AP2S1 ARMC5 CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C GCM2 GNA11 GNAS MEN1 YY1 HP_PRIMARY_HYPOTHYROIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPOTHYROIDISM ALMS1 CTNS DDOST STAT1 TOM1 UBR1 HP_PRIMARY_MICROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_MICROCEPHALY AFF3 ANKLE2 ARHGEF2 ASNS BUB1 CDK5RAP2 CDK6 CENPE CEP135 CEP63 CIT CLPB COASY COG7 CTNNB1 DISC1 DTYMK EIF5A EOMES FIG4 FRMD4A FZR1 GRIN2A IARS1 IER3IP1 IFIH1 KAT6A KATNB1 KNL1 LAGE3 LMNB2 MCPH1 MECP2 NCAPD2 NDE1 NSF NUP188 NUP37 PCDH12 PDCD6IP PHGDH PIGH PPFIBP1 PPP1R15B PSAT1 RBBP8 RELN RNF2 SASS6 SLC16A2 SLC1A4 SLC25A12 SLC25A19 SMC3 SPATA5 SPOP STIL TBCD TBL1XR1 TELO2 TP53RK TPRKB TRAPPC12 TRAPPC14 TRIO TRMT10A TSEN54 TUBB TUBB3 TXN2 VAC14 VPS4A YRDC ZEB2 ZNF335 HP_PRIMARY_PERITONEAL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_PERITONEAL_CARCINOMA BARD1 BRCA1 BRCA2 BRIP1 CHEK2 MRE11 NBN PALB2 PTEN RAD50 RAD51 RAD51C RAD51D TP53 HP_PRIMITIVE_NEUROECTODERMAL_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR APC2 ASCL1 BDNF BMPR1A BRAF BRD4 CASZ1 CDKN2A CHEK2 DICER1 EDN3 EPCAM FAN1 FLI1 GABRD GDNF GPC3 GPC4 HSPG2 KCNAB2 KEAP1 KIF1B KRAS LBX1 LUZP1 MAPRE2 MDM2 MLH1 MLH3 MMP23B MSH2 MSH6 MYO1H NF1 NSD1 NUTM1 PALB2 PDPN PHOX2B PIK3CA PMS1 PMS2 PRDM16 PRKCZ PTPN11 RAF1 RERE RET RPS20 RUNX1 SDHB SEMA4A SETD2 SKI SPEN TGFBR2 TP53 TUBB UBE4B YY1 HP_PRIMITIVE_REFLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_REFLEX AARS1 ALDH18A1 ATP13A2 CTSF DCTN1 DNAJC6 DNMT1 DPM2 GLRB GM2A HADHA HADHB JPH3 MAPT MME NDUFS8 NGLY1 PIEZO2 PIGA PSEN1 RAB18 SPG21 ST3GAL3 TREM2 TUBB3 TYROBP HP_PROBOSCIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROBOSCIS CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL PLCH1 PTCH1 SHH SIX3 SMC1A STAG2 STIL TDGF1 TGIF1 ZIC2 HP_PRODUCTIVE_COUGH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRODUCTIVE_COUGH ARL2BP BCOR CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFTR DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FIP1L1 FOXJ1 GAS2L2 GAS8 HYDIN IRF2BP2 LRRC56 MCIDAS NABP1 NEK10 NME5 NME8 NPM1 NUMA1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PML PRKAR1A RARA RPGR RSPH1 RSPH3 RSPH4A RSPH9 SCNN1A SCNN1B SCNN1G SPAG1 SPEF2 STAT3 STAT5B STK36 TBL1XR1 TTC12 ZBTB16 ZMYND10 HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY ADK AIMP2 ARV1 ARX ASNS ATRX CACNA2D1 CACNA2D2 CCDC88A COG7 CRIPT DENND5A DST ELOVL4 EML1 FARS2 FDFT1 FGF13 GLYCTK GOSR2 GRIN1 GRIN2A GUF1 H4C3 IREB2 ISCA2 KATNB1 KCNQ2 KCNT1 KCNT2 LIPT2 MFF NDE1 NECAP1 OPA1 PARS2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGU PIGW PLEKHG2 PRPS1 PRUNE1 PSAT1 PTPN23 QARS1 RARS2 RELN SETBP1 SLC12A2 SLC39A8 SLC9A6 STRA6 SZT2 TBCK UNC80 WASHC4 WDR4 ZNF526 HP_PROFOUND_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_HEARING_IMPAIRMENT CIB2 EPS8 FGF3 KARS1 KCNE1 KCNQ1 MYO15A PMP22 PRPS1 RDX SLC12A2 YARS1 HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT CIB2 FGF3 KARS1 KCNE1 KCNQ1 MYO15A PMP22 PRPS1 RDX SLC12A2 HP_PROGEROID_FACIAL_APPEARANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGEROID_FACIAL_APPEARANCE ATP6V0A2 B4GALT7 BANF1 CAV1 COG4 ELN ERCC1 ERCC3 ERCC4 ERCC6 ERCC8 EXOSC2 FBN1 GJB2 GJB6 GORAB KCNJ6 LMNA LMNB2 LTBP4 MTX2 PCNA POLR3A PSMB8 RECQL RNF113A SLC2A10 STUB1 WRN ZMPSTE24 HP_PROGRESSIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE AAAS AARS2 ABCD1 ABCD3 ACER3 ADA2 ADH1C ADK AFG3L2 AGTPBP1 AIFM1 AIMP1 AIMP2 AKT1 ALDH18A1 ALS2 ANO5 ANTXR2 AP5Z1 ASAH1 ASNS ATAD1 ATL1 ATP11A ATXN2 ATXN3 ATXN8OS B4GALNT1 BRAT1 BSCL2 C19orf12 CACNA1A CAD CCNO CERS1 CFHR5 CHCHD10 CHRND CLPB COASY COCH COL4A3 COL4A4 COL4A5 COL6A1 COL6A2 COL6A3 COPB2 COQ2 COQ8B CRAT CSF1R CTC1 CTSF CYP7B1 DARS1 DCDC2 DDHD2 DEGS1 DGKE DIABLO DMXL2 DNAJB11 DNM1L DNMT1 DPM1 DRD3 ELMO2 ELP1 ELP2 EMC1 EPRS1 ERLIN1 ERLIN2 EXOSC9 FA2H FAN1 FHL1 FIG4 FKTN FTL GBA1 GBA2 GEMIN5 GLUD2 GNAS GNS GOSR2 GPT2 GRHL2 HINT1 HK1 HPDL HSPD1 IBA57 INF2 INPP5K IREB2 IRF2BPL ISCA1 ISCA2 JAG2 KCNC1 KCNK3 KCNQ4 KCNT1 KCTD17 KCTD7 KIF1A KIF1C KIF5A KLC2 KMT2B KPNA3 LAMB1 LIMS2 LMNA LMNB1 LMNB2 LYRM7 MAP2K1 MAPKBP1 MAPT MARS1 MECP2 MECR MED17 MFF MFSD2A MGME1 MICOS13 MOCS1 MOCS2 MPV17 MRE11 MRPS34 MT-TT MTAP MTRFR MYH14 MYO1E MYORG NAGLU NALCN NBEAL2 NDUFA12 NDUFAF2 NDUFB9 NDUFS1 NDUFS7 NEFH NIPA1 NKX6-2 NOP56 NR4A2 NUP107 NUP133 NUP160 NUP214 NUP85 NUP93 OPA1 OPTN PABPN1 PCLO PCNA PDGFB PDGFRB PDXK PEX16 PIEZO2 PIK3R5 PKD2 PLA2G6 PLCE1 PMPCB PNPLA6 PNPLA8 POLG POLG2 POLR3A POLR3B POMGNT1 PRDM8 PRICKLE1 PRKRA PRUNE1 PTRH2 PUM1 PYCR2 QARS1 RARS2 RBCK1 REPS1 RETREG1 RNASEH1 RNASEH2C RRM2B RTN2 RUBCN SBF1 SEC61A1 SETX SGCA SGPL1 SIGMAR1 SLC12A6 SLC20A2 SLC25A4 SLC33A1 SLC39A14 SLC44A4 SLC52A2 SLC52A3 SLC6A3 SLC9A1 SMAD9 SMN1 SMN2 SNCA SNCAIP SNORD118 SOST SOX18 SPAST SPG11 SPRY2 SQSTM1 STIM1 STUB1 SYNE1 SYNJ1 TBC1D24 TBCE TBK1 TBP TFAM TJP2 TK2 TNFRSF11A TNFRSF11B TRAK1 TRAPPC12 TRAPPC2L TRAPPC6B TREX1 TRPC3 TTN TTR TUBB4A TWNK TXN2 TYMP UBA5 UBQLN2 UCHL1 UMOD VAC14 VARS1 VCP VPS13A VPS13C VPS53 VRK1 WASHC5 WDR45B WT1 XPR1 XRCC1 YARS2 ZFYVE26 HP_PROGRESSIVE_CEREBELLAR_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_CEREBELLAR_ATAXIA ANO10 ATM ATN1 ATP13A2 ATP6V0A2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH CACNA1A CHCHD10 CLCN4 COQ2 COQ8A DARS2 DKK1 EEF2 ELOVL4 FUS GBA2 GJB1 GLS HTT KCNC3 KCND3 KCTD7 MARS2 MME MSTO1 MT-TE MTPAP MVK PDYN PEX10 PEX6 PNPT1 POLG PPP2R2B PRDM8 PRKCG PRNP RFC1 SACS SCYL1 SLC25A15 SLC44A1 SPTBN2 SQSTM1 TARDBP TBK1 TGM6 TMEM240 TPP1 TTBK2 TTPA VCP VPS13D VPS41 WFS1 HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS CAV3 CRYAB GIPC1 HADHA HADHB KLHL9 LDB3 LRP12 MYH14 MYOT NEB NOTCH2NLC PNPLA2 RILPL1 TRPV4 HP_PROGRESSIVE_ENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_ENCEPHALOPATHY BSCL2 GLYCTK HTRA1 KYNU NADK2 POLG SUCLA2 TBCE TH TREX1 TSPOAP1 WDR45 HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA APTX ATXN3 C1QBP DGUOK DNA2 GIPC1 LRP12 MGME1 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TL2 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW NOTCH2NLC OPA1 POLG POLG2 POLRMT RILPL1 RNASEH1 RRM2B SLC25A4 TK2 TOP3A TWNK TYMP VARS2 HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER ATP13A2 CLPB FA2H GAMT MICU1 PLA2G6 RARS1 WDR73 ZNF592 HP_PROGRESSIVE_FLEXION_CONTRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_FLEXION_CONTRACTURES ANTXR2 ESCO2 GCH1 IMPDH2 MED12 NR4A2 SYT1 HP_PROGRESSIVE_GAIT_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_GAIT_ATAXIA ALDH18A1 ANO10 ARSA ATP13A2 ATP1A2 ATXN3 CACNA1A EEF2 FA2H GABRA1 GABRG2 GJB1 MT-ATP6 MTPAP PCDH19 PEX10 POLG PRRT2 PSAP SACS SCN1A SCN1B SCN2A SCN9A SETX SNRPN SPTBN2 TPP1 TWNK UBE3A HP_PROGRESSIVE_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_HEARING_IMPAIRMENT ACTG1 ALMS1 ARSG ATP1A3 DIAPH1 DMXL2 FGF3 GATA3 GFER GIPC1 GJB2 GJB6 GOSR2 GRXCR1 GSDME IARS2 KMT2D LARS2 LRP12 MCM2 MIR96 MPZ MPZL2 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYH14 MYO3A MYO6 NDUFA1 NLRP3 NOTCH2NLC OPA1 P2RX2 PEX11B POLR3GL POU3F4 RILPL1 SCD5 SERPINB6 SLC30A9 SP7 SYNE4 TBC1D24 TIMM8A TPRN TWNK WFS1 HP_PROGRESSIVE_LEUKOENCEPHALOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY AARS2 COA8 KIF5A PLAA SDHA HP_PROGRESSIVE_MACROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MACROCEPHALY AKT1 GCDH GFAP HEXB NDUFS4 PIK3CA PTEN HP_PROGRESSIVE_MICROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MICROCEPHALY ACBD5 ACO2 AGTPBP1 ALG1 ALG12 ALG9 ARFGEF2 ASNS ATP6V0A2 ATP6V1A ATP6V1E1 BRAT1 CASK CC2D1A CCDC88A CDC42 CDC45 CDKL5 CLP1 CNP COG1 COG7 COG8 DIAPH1 DOLK DPM2 EFTUD2 EMC1 ERCC6 ERCC8 EXOSC3 EXOSC8 EXOSC9 EXTL3 FAR1 FOXG1 GLYCTK GOLGA2 GOT2 GRIA2 IQSEC2 LAMB2 LGI3 MDH1 MECP2 MFSD2A MGAT2 MPC1 NAPB NDUFS1 PAFAH1B1 PCDH12 PCLO PLAA PNKP PNPO POMK PPT1 PTRH2 PUS3 PYCR2 QARS1 RARS2 RNASEH2A RNASEH2C RNF113A SCN8A SEPSECS SLC1A4 SLC25A46 SLC2A1 SLC39A14 SMPD4 SNAP29 SPTAN1 STAMBP TOE1 TRAPPC6B TREX1 TSEN15 TSEN2 TSEN34 TSEN54 TUBGCP2 VARS1 VPS53 VRK1 WWOX ZNHIT3 ZSWIM6 HP_PROGRESSIVE_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MUSCLE_WEAKNESS ABHD5 ACTA1 ANO5 BIN1 COL12A1 COL6A1 COL6A2 COL6A3 COQ2 CRYAB DES DMD DOLK DYSF FKTN GGPS1 GIPC1 GOSR2 HACD1 ITGA7 LDB3 LRP12 LTBP4 MAP3K20 MEGF10 MIEF2 MLIP MPV17 MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MYH7 MYL2 MYOT NEB NOTCH2NLC PCNA PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHKA2 PHKB PHKG2 PLEC PNPLA2 POLG POLG2 PRPS1 PUS1 PYGM RILPL1 RYR1 SELENON SIL1 SPEG SPTLC1 TBCK TK2 TNNT1 TPI1 TPM2 TPM3 TRAPPC11 TTN TWNK VAPB VCP HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION ALDH18A1 ARSA ATP1A2 ATP1A3 BSCL2 CACNA1A CERS1 CNTNAP2 CTNS CYC1 CYP27A1 EIF2B5 EPM2A ERCC6 ERCC8 GALC GBA1 GCH1 GLB1 GRN HEPACAM HEXB HIBCH HNF4A HSD17B10 IDUA ITM2B KARS1 KCTD7 LMNB1 LRPPRC MCOLN1 MICOS13 MTFMT NAGLU NDUFA6 NHLRC1 PDGFRB PMPCA POLG PSAP PTS QDPR RAB27A RNU4ATAC RRM2B SDHA SDHAF1 SDHB SDHD SLC13A3 SLC1A3 SLC39A14 SUMF1 SYNJ1 TIMMDC1 TINF2 TREX1 VCP HP_PROGRESSIVE_NIGHT_BLINDNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NIGHT_BLINDNESS ABCA4 AGBL5 AHI1 AHR ARHGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 CA4 CC2D2A CDHR1 CERKL CFAP418 CLRN1 CNGA1 CNGB1 CRB1 CRX CYP4V2 DHDDS DHX38 EYS FAM161A FSCN2 GUCA1B GUCY2D HGSNAT IDH3A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG1 IMPG2 INPP5E KIAA1549 KIZ KLHL7 LRAT MAK MERTK NEK2 NR2E3 NRL OAT OFD1 PCARE PDE6A PDE6B PDE6G POMGNT1 POU3F4 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RDH11 RDH12 RDH5 REEP6 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SLC7A14 SNRNP200 SPATA7 TOPORS TTC8 TUB TULP1 USH2A ZNF408 ZNF513 HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY ABCA1 ARSA COA8 LYST PSAP HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS ABHD5 ANO5 COL12A1 COL6A1 COL6A2 COL6A3 CRYAB DYSF GIPC1 LDB3 LRP12 MLIP MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MYOT NEB NOTCH2NLC PLEC PNPLA2 PYGM RILPL1 TK2 TRAPPC11 VCP HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION ARSA BSCL2 CYP27A1 GLB1 HEXB KCTD7 PMPCA PSAP SDHA SDHAF1 SDHB SDHD HP_PROGRESSIVE_PTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PTOSIS GIPC1 LRP12 NOTCH2NLC PABPN1 RILPL1 HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT AKT1 BAP1 NF2 PDGFB PIK3CA SLC34A2 SMARCB1 SMARCE1 SMO SMPD1 SUFU TERT TRAF7 HP_PROGRESSIVE_SPASTICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTICITY ACP5 ARG1 ARSA ATP13A2 CTNNB1 DARS2 DEGS1 FA2H GALC GJC2 GLRX5 GM2A HSPD1 MECP2 MSL3 NADK2 NKX6-2 OPA1 PAFAH1B1 PLA2G6 PLAA PLP1 POLG PSAP RPS6KA3 SELENOI SPG11 SPTBN1 TAF8 TBCD ZSWIM6 HP_PROGRESSIVE_SPASTIC_PARAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPARESIS ABCD1 CPT1C FA2H GALC SELENOI SPG7 TBCE HP_PROGRESSIVE_SPASTIC_PARAPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARSI ATP13A2 CCT5 CPT1C FA2H FARS2 FLRT1 HACE1 IBA57 KDM5C KIDINS220 KIF1A KLC2 KPNA3 KY MARS1 MT-ATP6 PGAP1 PLP1 PNPLA6 RAB3GAP2 RTN2 SELENOI SLC33A1 UBAP1 WASHC5 ZFR HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA ACP5 ARG1 ARSA ATP13A2 FA2H GM2A NADK2 PAFAH1B1 PLAA PLP1 PSAP SPTBN1 HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS BRAF CTNNB1 PRPF3 PRPH2 RDH5 RHO RLBP1 HP_PROGRESSIVE_VISUAL_LOSS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_LOSS AGTPBP1 AIP AKT1 APOE ARL3 ATP1A3 ATXN7 BAP1 BRAF C19orf12 CARS2 CDH23 CDHR1 CEP164 CEP290 CFAP418 CFH CFHR1 CFHR3 CFI CHM CLN3 CLN5 CLN6 CLN8 COL17A1 COL18A1 CTNNB1 CYP4V2 DCN DNAJC30 DNM1L EPRS1 EXOSC3 EXOSC8 EXOSC9 FA2H GUCA1A GUCY2D HMCN1 IFT140 INVS IQCB1 KARS1 KIAA1549 LRP2 MEN1 MERTK MFN2 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MTTP NDUFS2 NEU1 NF1 NF2 NPHP1 NPHP3 NPHP4 OAT OPA1 PAK2 PCYT1A PDGFB PEX7 PHYH PIK3CA PNPLA6 PPT1 PRPH2 PRPS1 RAX2 RDH11 RDH5 RHO RLBP1 RP1L1 RS1 SDCCAG8 SEMA4A SH3BP2 SLC25A46 SMARCB1 SMARCE1 SMO SON SOST SUFU TERT TGFBI TNFRSF11A TPP1 TRAF3IP1 TRAF7 TREX1 UCHL1 VRK1 WDR19 ZNF408 HP_PROLINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLINURIA ALDH4A1 OPLAH PRODH SLC36A2 SLC6A18 SLC6A19 SLC6A20 HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION DTNBP1 F10 F11 F13A1 F13B F2 F5 F7 F8 FGA FGB FGG GP1BA GP1BB GP9 ITGB3 LMAN1 MCFD2 RASGRP2 SERPINE1 VWF HP_PROLONGED_BLEEDING_AFTER_SURGERY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_SURGERY F10 F13A1 F13B F5 F7 F8 GP1BA GP1BB GP9 ITGA2B ITGB3 LMAN1 MCFD2 P2RY12 SERPINE1 VWF HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION F13A1 F13B F2 F5 F8 FGA FGB FGG ITGA2B ITGB3 LMAN1 MCFD2 RBM8A HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE DIAPH1 DTNBP1 F10 F11 F13A1 F13B F2 F5 F7 F8 FGA FGB FGG GFI1B GP1BA GP1BB GP9 IKZF5 ITGA2B ITGB3 KIF23 LMAN1 MCFD2 P2RY12 RACGAP1 RASGRP2 RBM8A SERPINE1 SLC37A4 VWF HP_PROLONGED_BLEEDING_TIME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_TIME ADAMTS2 ADAMTSL2 AGGF1 AP3B1 BMS1 CALR CD36 COL1A1 COL5A1 COL5A2 CREB3L1 DLL4 DTNBP1 F2 F5 GATA1 GATA2 GFI1B GP1BA GP1BB GP6 GP9 HPS1 HPS5 HPS6 ITGA2B ITGB3 ITGB4 JAK2 MAP2K2 MPL MYH9 MYRF NBEAL2 NF1 PLEC RASGRP2 RIN2 RUNX1 SH2B3 SLC35A1 TEK TET2 TP53 UBA2 VWF WAS WIPF1 HP_PROLONGED_NEONATAL_JAUNDICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_NEONATAL_JAUNDICE ADAMTS13 ADAR AKR1D1 AMACR APC2 ARL13B ATP6AP1 ATP7A CASK CCDC115 CDAN1 CPOX CTCF CYP27A1 DUOX2 DUOXA2 EPB41 G6PD GALK1 GALM GH1 GYPC HESX1 HYOU1 IFIH1 IYD JAG1 KMT2D KMT2E LHX3 LHX4 LSM11 MED12 MPV17 NPC1 NPC2 NSD1 PARS2 PEPD PEX1 PEX10 PKLR POU1F1 PROP1 PRPS1 RHAG RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 SAMHD1 SETD2 SLC10A1 SLC16A2 SLC37A4 SLC44A1 SLC51B SLC5A5 SMPD1 SPOP SPTA1 SPTB TBX19 TG TPI1 TPO TREX1 TRHR TSHB TSHR TTC26 UGT1A1 UNC45A YARS1 HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME ABCD3 AKR1D1 ALG12 ALG13 ALG2 AMACR B4GALT1 DPM1 EFL1 F10 F11 F12 F2 F5 F8 F9 FAH GATA6 GGCX GNE HLA-DQA1 HLA-DQB1 KLKB1 KNG1 LMAN1 LRPPRC LZTR1 MCFD2 PGM1 PLOD3 PMM2 SLC37A4 SOS1 VPS33B HP_PROLONGED_PR_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PR_INTERVAL CLCNKB DSG2 GNB5 GPD1L KCNA5 NKX2-5 SCN2B SCN5A SLC12A3 TLL1 HP_PROLONGED_QRS_COMPLEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QRS_COMPLEX GJA5 IRX5 JUP PKP2 PRKAG2 TMEM43 HP_PROLONGED_QTC_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QTC_INTERVAL AKAP9 ALG10B ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 FLNC HCN4 KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 MECP2 NOS1AP SCN10A SCN4B SCN5A SNTA1 SVIL TANGO2 TBX5 TECRL TNNI3K TRDN HP_PROLONGED_QT_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QT_INTERVAL ACADVL AKAP9 ALG10B ALPK3 ANK2 BPTF CACNA1C CACNA1S CALM1 CALM2 CALM3 CAV3 CAVIN1 CLCNKB DNAJC19 DPAGT1 FLNC GABRA3 GMPPB GNAS GPC3 GPC4 HADH HCN4 KCNA5 KCND3 KCNE1 KCNE2 KCNH2 KCNJ18 KCNJ2 KCNJ5 KCNQ1 MECP2 NOS1AP PHOX2B PSMD12 RYR1 SCN10A SCN4B SCN5A SLC12A3 SLC6A8 SNTA1 SRY STX16 SVIL TANGO2 TBX5 TECRL TNNI3K TNNT2 TRDN TRPM4 HP_PROMINENCE_OF_THE_PREMAXILLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENCE_OF_THE_PREMAXILLA COLEC11 EFEMP2 HRAS NFIX NRAS PEX19 RECQL HP_PROMINENT_ANTIHELIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTIHELIX AP4E1 BICRA EVC EVC2 FIG4 GLI2 KAT6A MGAT2 NR2F1 PGAP1 RAB11B RBM10 RECQL4 SLC16A2 TOR1A WAC HP_PROMINENT_ANTITRAGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTITRAGUS B3GAT3 CHST3 KAT6A PGM2L1 PIGK RAB3GAP2 HP_PROMINENT_CALCANEUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CALCANEUS CCDC8 DLK1 DYM GFM2 MEG3 OBSL1 RAB33B RSPRY1 RTL1 SATB2 HP_PROMINENT_COCCYX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_COCCYX COLEC10 COLEC11 MASP1 SH3PXD2B TAF1 TBX15 HP_PROMINENT_CRUS_OF_HELIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CRUS_OF_HELIX DHX30 FGFR2 FGFR3 HS2ST1 NSD2 STEEP1 TWIST1 HP_PROMINENT_DIGIT_PAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_DIGIT_PAD ADNP ARID1B ATN1 BCOR CCDC22 CHD1 CREBBP CTCF DEAF1 DHX30 EMC1 EP300 EZH2 FOXP1 FOXP2 GJA5 GJA8 H3-3B H4C5 HNRNPH2 JARID2 KANSL1 KDM6A KMT2A KMT2D KPTN MAP1B MED12 MED12L NAA10 NFIX NR2F1 NXN PAK3 PKDCC PRR12 RPS23 RUSC2 TBL1XR1 TCF4 TWIST2 WAC ZNF292 ZNF407 HP_PROMINENT_EAR_HELIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EAR_HELIX ACBD5 AFF2 DOCK7 LMNA PYCR1 ZMIZ1 ZMPSTE24 HP_PROMINENT_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EYELASHES ARID1A ARID1B ARID2 DPF2 KDM6A KMT2D LMNB1 PYCR2 RNU4ATAC SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 HP_PROMINENT_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_FOREHEAD ABCC9 ACTL6B ADAT3 ADNP AGR2 ALDH18A1 ALX4 AMER1 AP1G1 AP1S2 AP2M1 APC2 ARCN1 ARNT2 ARX ASXL1 ASXL3 ATIC B3GALT6 B3GAT3 B3GLCT BRAF BRWD3 CA2 CAMK2B CASK CBFB CCND2 CDC42 CDH2 CDKL5 CDKN1C CEP57 CHD2 CHD3 CHST3 CKAP2L CLCN3 CNOT3 COG4 COL18A1 COL27A1 COL2A1 CPT2 CREBBP D2HGDH DHCR24 DLK1 DPF2 DPH1 DPH2 DPH5 DPYD DVL1 DVL3 DYNC1H1 EBF3 EDA EDAR EDARADD EFEMP2 ELN EP300 EPG5 ERF ERMARD EXOSC2 EXT2 FAM111A FAM149B1 FAM50A FARSB FAT4 FBLN5 FBN1 FBXO31 FGFR1 FGFR2 FGFR3 FLNA FLNB FMR1 FOXC1 FOXP1 FUCA1 FZD2 GJA5 GJA8 GJB2 GJB6 GLE1 GNE GNS GOLGA2 GPAA1 GPC4 GRB10 H19 H3-3A H3-3B HECTD4 HECW2 HERC1 HESX1 HMGA2 HRAS IARS2 IFT140 IFT81 IGF1 IGF2 IL2RA IL6ST INPP5E INPPL1 IRX5 ITGA3 JARID2 KCNJ1 KDF1 KDM1A KDM6B KIAA0753 KIDINS220 KIF11 KIF7 KMT2A KMT2D KMT2E KPTN LARP7 LBR LHX3 LHX4 LRP4 LRPPRC MAB21L2 MAN2B1 MAPKAPK5 MARS2 MBTPS1 MED12 MED13L MEG3 MEGF8 MID1 MN1 MTOR MYH3 NAA10 NALCN NANS NEXMIF NFIX NPR2 NRAS NSD1 NSD2 OBSL1 OPHN1 P4HTM PAM16 PDGFRB PEPD PEX5 PIGK PIGL PIK3R1 PITX2 PKDCC PLA2G6 PLAG1 PMM2 POC1A POLR3A POU1F1 PPP1CB PPP2R5D PRKDC PRMT7 PROP1 PRPS1 PTDSS1 PTEN PTH1R PUF60 PURA PYCR1 RAF1 RALA RECQL4 RMRP ROR2 RPS6KA3 RTL1 RYR1 RYR3 SATB2 SCN1A SCYL2 SERPINH1 SETBP1 SETD2 SH3PXD2B SHOC2 SIN3A SKI SKIC2 SKIC3 SLC2A1 SLC6A1 SMG9 SMOC1 SNX14 SON SP7 SPECC1L SRCAP STAT3 STAT5B SUMF1 SUZ12 SVBP SYNGAP1 TAF1 TAPT1 TBCE THSD1 TMEM147 TMEM53 TONSL TRAF6 TRIP11 TRRAP TTC7A TWIST1 UBR7 UNC80 UPF3B USP9X VPS33A VPS35L WAC WASHC4 WNT5A ZBTB18 ZBTB20 ZBTB7A ZNF292 ZNF711 ZPR1 ZSWIM6 HP_PROMINENT_INTERPHALANGEAL_JOINTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_INTERPHALANGEAL_JOINTS ARID1B COL11A2 PCGF2 SMARCA2 SMARCA4 HP_PROMINENT_METOPIC_RIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_METOPIC_RIDGE ABCC8 ACTB ACTG1 ADAMTSL1 ADARB1 ADSL ALG9 ASXL1 ATIC CAMSAP1 CDC6 CDKN1C CLCN3 COL25A1 ERCC1 ERCC2 ERCC5 ERCC6 ERMARD FOXG1 GCK GJA5 GJA8 GNPTAB H3-3B HNRNPK HNRNPU IFT140 IGF2 IL11RA INS INTU KANSL1 KCNJ11 KCNQ1 KCNQ1OT1 KDM4B KDM5B LMX1B MAF MAP1B MAPK1 MID1 NAA10 NARS2 NOTCH3 NSRP1 NUP188 PDX1 PPP2R1A PURA RNU4ATAC RTTN SC5D SMARCD1 SMG9 SRCAP STAT3 STXBP1 TBCK TOGARAM1 TWIST1 ZFHX4 ZNF292 ZNF462 HP_PROMINENT_NASAL_BRIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_BRIDGE ACTG2 AFF2 AHI1 ALG12 ALX4 ANKRD11 ARL13B ARL3 ARL6 ARMC9 ARVCF ARX ASH1L ASPH ASXL3 ATIC ATPAF2 B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCR BICRA BRCA1 CASK CBY1 CC2D2A CDC42BPB CDK13 CENPF CEP104 CEP120 CEP152 CEP19 CEP290 CEP41 CFAP418 CHD5 CKAP2L CLIC2 COLEC11 COMT COX4I1 CPLANE1 CRKL CSPP1 DCAF17 DHPS DOCK7 DYRK1A EBF3 EBP ECE1 EDN3 EDNRB ERCC1 ERCC6 EXOSC5 EXT2 FAM149B1 FBN1 FGFR2 FGFR3 GALNT2 GATA4 GJA5 GJA8 GP1BB GPC4 H4C9 HDAC8 HERC1 HIRA HIVEP2 HMGA2 HNRNPK HSPG2 HYLS1 IFT172 IFT27 IFT57 IFT74 IGBP1 INPP5E INSR IPO8 JMJD1C KANSL1 KAT6A KAT6B KAT8 KATNIP KDM5B KDM5C KDM6B KIAA0586 KIAA0753 KIF7 KIFBP LEMD3 LMNB1 LZTFL1 MAPK1 MAPK8IP3 MECP2 MED12 MED12L MED13 MEIS2 MGAT2 MIA3 MITF MKKS MKS1 NALCN NBN NDE1 NEXMIF NFASC NHS NONO NPHP1 NR2F1 NSDHL NSUN2 OFD1 ORC6 OTUD6B PAK3 PAX3 PCDHGC4 PCNT PDE6D PDGFRB PGAP2 PGAP3 PHF21A PIBF1 PIGL PIGO PIGV PIGW PIGY PMM2 POLR1A PRKD1 RAB3GAP2 RAC1 RARS2 RB1 RECQL RECQL4 RELN RLIM RPGRIP1L RREB1 RTTN SATB2 SCAPER SCLT1 SCUBE3 SDCCAG8 SEC23A SEC24C SF3B4 SH2B1 SIN3A SMAD4 SMC1A SMC3 SMS SNAP29 SOX10 SOX18 SPECC1L SPEN SPOP SPRED2 SPRTN SRCAP STAG1 SUFU TAF6 TBC1D20 TBCK TBX1 TCF4 TCTN1 TCTN2 TCTN3 TGFB3 TLK2 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TNPO2 TOGARAM1 TOPORS TP63 TRIM32 TRIO TRRAP TTC8 TWIST1 TXNL4A UFD1 UNC80 UPF3B VPS13B WARS1 WDPCP WDR37 XRCC4 ZDHHC9 ZMIZ1 ZNF335 ZNF423 ZNF526 ZNF699 HP_PROMINENT_NASAL_TIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_TIP ASNS AUTS2 BCL11A BICRA CCDC8 CHD5 CHRNA7 CSGALNACT1 DPYD FLCN KCNJ6 MADD MED25 OBSL1 PCGF2 PDE4D PGM2L1 PPP3CA PRKACB RFX7 SPEN SYT1 WDR26 ZEB2 HP_PROMINENT_NASOLABIAL_FOLD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASOLABIAL_FOLD ATP6V0A2 ATP6V1A ATP6V1E1 CHST14 DSE FOXP1 GNB2 LTBP1 MYBPC1 NAA10 NALCN NF1 SPRED2 TNNI2 TOR1A USP9X HP_PROMINENT_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NOSE AARS1 ACER3 ACTB ACTG1 ADAT3 AP1S2 AP4S1 APC2 ASH1L ASPH ATR BCL11B BLM BPTF CDK19 CDK5RAP2 CENPE CENPT CEP120 CHD3 CLTCL1 COG5 CREBBP CTSK CUL4B DCAF17 DENND5A DYNC1I2 EIF4A3 EMG1 EP300 ERCC2 ERCC6 ERCC8 EXOSC5 EXTL3 FBXL3 FGF3 FHL1 FOXP2 GJA5 GJA8 GMPPA GNB2 GPC4 H4C5 HYMAI INTU ITGA3 KAT6B LIG4 LMBR1 MAN1B1 MBD5 MED12 METTL5 MINPP1 NBN NFIX NHS NIN NONO NSUN2 OPHN1 PCNT PDE4D PEX19 PEX3 PGM2L1 PLAGL1 PLK4 PMM2 POC1A PSMB8 PSMD12 QRICH1 RBBP8 RLIM RNU4ATAC RUSC2 SLF2 SMC5 SMG8 SNRPN SOX6 SPART SPOP SRCAP STAG2 STIL STIM1 TAB2 TAF6 TMEM94 TTC5 TTI2 UFC1 UNC80 USP9X WARS1 WDR73 ZNF668 ZNF699 HP_PROMINENT_OCCIPUT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_OCCIPUT ALX4 ATP6V1B2 ATP7A CCDC22 CDK13 CDKN1C CHUK CNOT1 CNOT3 CTSK DLL3 DPYSL5 ERF FLNA FLNB GDF11 GJA5 GJA8 GLI3 HES7 HRAS HYMAI IFT122 IFT43 IFT52 IFT81 IGF2 ITCH KAT6B KATNB1 KCNQ1 KCNQ1OT1 KIF7 KRAS LFNG MED12 MESP2 MOGS MYCN NDE1 NFIX NOTCH2 NRAS PIGA PIGN PLAGL1 RELN RIPPLY2 RNU4ATAC SMG9 SOX6 TBC1D24 TBX6 TFAP2B TOR1A TWIST1 VPS35L WASHC5 WDR19 WDR35 HP_PROMINENT_STERNUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_STERNUM AIFM1 ARSB BMP2 DLK1 DYM GALNS GATA6 GLB1 LONP1 MEG3 PRKG2 RMRP RTL1 WNT7A ZFPM2 HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS AEBP1 AGPAT2 ALDH18A1 ANTXR1 ATP6V0A2 ATP6V1A ATP6V1E1 BANF1 BSCL2 C1R C1S CAV1 CAVIN1 COG4 FLT4 FOS G6PC3 GPR35 IPO8 LEMD2 LMNA MST1 PDGFRB PIK3R1 POLR3A PPARG PPP1R15B PTDSS1 PYCR1 RASA1 SEMA4D SLC25A24 SLC39A13 TCF4 VEGFC ZMPSTE24 HP_PROMINENT_SUPRAORBITAL_RIDGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPRAORBITAL_RIDGES ABCC9 AGPAT2 AP1G1 ARX BSCL2 CAV1 CAVIN1 CHD8 COL11A2 EDA ERCC4 FBXO31 FGFR1 FHL1 FLNA FOS FREM1 GRIA3 HDAC8 IDS JARID2 KCNJ8 LAS1L LBR LMBRD2 MAP2K2 MAP3K7 OPHN1 PAK3 PDGFRB PHF6 PHF8 PIK3R1 PITX2 POLR3A PPARG PRR12 PSMC3 PTH1R RBMX RPS6KA3 SEC23A SHANK3 SOST SP7 SUZ12 TAF1 TOE1 UBE2A ZSWIM6 HP_PROMINENT_UMBILICUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_UMBILICUS AGPAT2 BSCL2 CAVIN1 FGD1 KAT6A LMNA ZMPSTE24 HP_PROMINENT_VEINS_ON_TRUNK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_VEINS_ON_TRUNK AEBP1 ATP6V0A2 ATP6V1A ATP6V1E1 PPARG HP_PROPORTIONATE_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_SHORT_STATURE ACAN ADAMTS10 ADAMTS2 ADAMTSL2 AGO1 AMER1 ANTXR2 ARSL ATP11A ATR B3GALT6 BRAF BRF1 CAMK2G CANT1 CDC45 CDC6 CDT1 CENPJ CENPT CHST11 CKAP2L COL10A1 COL1A1 COL1A2 COL2A1 COL9A2 COL9A3 COMP COX7B CRIPT CSGALNACT1 CTNNB1 CTSA DDRGK1 DHCR24 DLL3 DLX5 DNMT3A DOCK3 DPP9 DVL1 DVL3 DYM EFEMP2 EPRS1 ERCC4 ERCC6 ESCO2 EVC EVC2 FAM111A FBLN5 FBN1 FGD1 FGFR1 FGFR3 FLNB FZD2 GH1 GHR GHRHR GLB1 GMNN GORAB GUSB HADH HCCS HHAT HOXD13 HSPA9 HSPG2 IDS IGF1R INPP5K INPPL1 KAT6B KIF11 LARP7 LBR LTBP1 LTBP3 LYSET MAP3K7 MATN3 MBTPS2 MESP2 MIA3 NDUFB11 NEPRO NIN NPR2 NSMCE2 OBSL1 ORC1 ORC4 ORC6 PCGF2 PCYT1A PDE4D PEX7 PIEZO2 PIK3R1 PNPLA6 POLE PPP1R15B PTCD3 PTDSS1 PTH1R PYCR1 RECQL4 RMRP RNU4ATAC RPL13 RTTN RUNX2 SALL4 SCNN1A SCNN1B SCNN1G SDHA SDHAF1 SDHB SDHD SELENOI SGMS2 SHOX SIL1 SLC26A2 SLC39A13 SMAD4 SMARCA2 SON STAT5B STRA6 TBCE TBX6 TCTN3 TKT TRIP11 TRMT10A TRPV4 WNT5A XYLT1 ZBTB18 HP_PROPORTIONATE_TALL_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_TALL_STATURE AGPAT2 AIP BSCL2 CAV1 CAVIN1 CDKN1A CDKN1B CDKN2B CDKN2C DNMT3A FIBP FOS MEN1 NF1 PPARG HP_PROPTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPTOSIS ABCA12 ADAMTS10 AFF4 AKT1 ALG9 ALPL AP3B2 APC ASPM ASXL1 ASXL2 ASXL3 ATXN3 AUTS2 B3GALT6 B3GAT3 B4GALT7 BANF1 BAP1 BGN BPNT2 BRAF BRCA1 BRCA2 BRIP1 CACNA1C CANT1 CBL CDC45 CDH11 CDK5RAP2 CDKN1C CDON CHST3 CITED2 CKAP2L CLP1 COG1 COG4 COL11A1 COL11A2 COL1A1 COL2A1 COL3A1 CPLX1 CREBBP CRIPT CRTAP CSGALNACT1 CTBP1 CTLA4 CTSK CYP27A1 DDR2 DHCR7 DPYSL5 DVL1 DVL3 DYNC1I2 EFEMP2 ELMO2 EP300 ERCC4 ERF ESCO2 EXTL3 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLNA FLNB FLT4 FN1 FOCAD FOXC1 FZD2 GATA4 GATA5 GATA6 GDF1 GJA5 GNPTAB HECTD4 HERC1 HLA-DPA1 HLA-DPB1 HNRNPK HSPG2 HYMAI IFT81 IGF2 IL11RA INPPL1 INSR IPO8 IRF4 ITCH JAG1 KAT6A KCNJ6 KCNQ1 KCNQ1OT1 KDR KRAS LEMD2 LETM1 LMNA LRP2 LRP4 LTBP1 LZTR1 MAD2L2 MAF MAFB MAN2B1 MITF MMP2 MRAS MTHFR MTX2 MUSK MYD88 MYOD1 NAA10 NBAS NDE1 NEDD4L NELFA NF1 NF2 NFIX NIPBL NKX2-5 NKX2-6 NLRP3 NOTCH3 NRAS NSD2 NXN OSTM1 P3H1 P4HB PALB2 PARS2 PCLO PDGFB PDGFRB PEPD PHGDH PIGB PIGG PIK3CA PKDCC PLAGL1 PLCB3 PLK4 PLOD3 POLA1 POLD1 POLR3A POLR3GL POR PPP2CA PRTN3 PRUNE1 PSAT1 PSMB8 PTCH1 PTEN PTH1R PTPN11 PTPN22 RAC3 RAD51 RAD51C RAF1 RASA2 RECQL4 RFWD3 RIT1 RNU12 RNU4ATAC ROR2 RRAS RRAS2 RSPRY1 RTTN SCN4A SEC24D SERPINH1 SETBP1 SH3BP2 SH3PXD2B SHH SHPK SIN3A SIX3 SKI SKIC3 SLC25A24 SLC29A3 SLC39A13 SLC39A14 SLX4 SMAD3 SMARCB1 SMARCE1 SMO SMS SNRPN SOS1 SOS2 SOST SOX9 SPECC1L SPRED2 SPTBN1 STAG2 SUFU TAF1 TBC1D24 TBX1 TCF12 TCTN3 TERT TGDS TGFB1 TGFB3 TGFBR1 TGFBR2 THRB TMEM53 TNFRSF11A TRAF7 TSHR TWIST1 UBE2T VAC14 VANGL2 WASF1 WDR4 WNT5A XRCC2 XYLT1 ZFPM2 ZIC1 ZMPSTE24 ZNF699 HP_PROSTATE_CANCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATE_CANCER AAGAB APC AR BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 COL14A1 EPHB2 FOXE1 GREM1 KLF6 MAD1L1 MDM2 MRE11 MXI1 NAB2 NBN NTHL1 PALB2 PTEN RAD50 RAD51 RAD51C RAD51D RNASEL RNF43 STAT6 TP53 ZFHX3 HP_PROSTATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATITIS BTK CTLA4 HGD HLA-DPA1 HLA-DPB1 PRTN3 PTPN22 HP_PROTEIN_AVOIDANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_AVOIDANCE ASL ASS1 CPS1 OTC SLC25A15 SLC7A7 HP_PROTEIN_LOSING_ENTEROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_LOSING_ENTEROPATHY ADAMTS3 ALG1 ALG6 ALG8 BLNK BMPR1A CARD8 CCBE1 CD55 COG8 DGAT1 DZIP1L FOCAD MPI PET117 PIK3C2A PKHD1 PLVAP PTEN STAT1 HP_PROTRACTED_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRACTED_DIARRHEA ATRX CD247 CD3D CD3E CIITA DAXX LCK MYO5B RAG1 RAG2 RFX5 RFXANK RFXAP SDHD HP_PROTRUDING_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_EAR AARS1 ADNP AHDC1 ALDH18A1 ANKRD11 ANTXR1 AP1S2 APC ARX ATP6V1A B3GALNT2 B3GLCT B4GAT1 BAZ1B BCL7B BICRA BIN1 BLM BMP1 BMP4 BSND BUD23 CAMK2G CAMTA1 CARS1 CCDC32 CCDC8 CHRNA7 CHST14 CLCF1 CLCNKA CLCNKB CLIP2 CLTC COL2A1 COL3A1 COL4A1 COL6A1 COL6A2 COL6A3 CREBBP CRPPA CUL7 DAG1 DCAF17 DHX37 DLX4 DNAJC30 DOCK6 DPP6 DSE DYRK1A EDEM3 EDNRA EIF4A3 EIF4H ELN ERCC2 ERCC3 EXT1 EYA1 FAM20C FBLN5 FBN1 FBXL4 FGFR1 FIBP FIG4 FKBP6 FKRP FKTN FLNA FMR1 FN1 FOXG1 FRMD4A GABRA3 GJA1 GJA5 GJA8 GJB3 GJB4 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H19 HEATR3 HNRNPK HUWE1 IFT122 IGF2 INSR INTS1 JARID2 KANSL1 KCNK9 KCTD1 KDM5C KDM6A KDSR KIF11 KMT2D KNSTRN LARGE1 LGI4 LIG4 LIMK1 LMNB1 LRP4 MAB21L1 MAPK8IP3 MBD5 MBTPS2 MED12 MEGF8 METTL27 MLXIPL MPLKIP MYH3 MYMX NAA10 NALCN NCF1 NDP NDST1 NECTIN1 NEK1 NF1 NHS NKAP NR2F1 NSD2 NSRP1 NSUN2 OBSL1 OCRL OTUD6B PACS1 PAX1 PGM2L1 PIEZO2 PIK3CD PLK4 POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 POU3F3 PPP1R12A PQBP1 PRUNE1 PTPN11 PUS7 PYCR1 PYCR2 RAD21 RB1 RFC2 RFX7 RNF113A RPL10 RPS6KA3 RXYLT1 RYR1 SCARF2 SH3PXD2B SHANK3 SIN3A SKI SLC1A4 SMC5 SMPD4 SON SPEG SPOP SPTBN1 SRCAP STX1A TAF1 TARS1 TASP1 TBL2 TBX22 TBX4 TET3 TFAP2B TMEM270 TNNI2 TNNT3 TP53RK TP63 TPM2 TRAIP TRMT1 TRPS1 TTC26 TTN TUBGCP2 TUBGCP4 TUBGCP6 TXNL4A UBA2 UPF3B VPS37D WDR19 WNT4 WNT7A ZDHHC9 ZNF407 ZNF462 HP_PROTRUDING_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_TONGUE ADGRG1 ATRX CCDC22 CDCA7 CLIC2 COG7 CSNK2A1 CSNK2B DHX30 DNM1 DNMT3B EHMT1 FAM20C FBXO28 FTO GATA1 GLB1 GRIK2 HELLS INPP5E KIF7 LAMA2 LMNB1 MGAT2 NEU1 NFIX NRXN1 OCA2 PEX1 PI4KA PIGB PTH1R RALGAPA1 SET SLC25A24 SLC35C1 SNRPN SRPX2 TAF1 TRIP11 UBE3A VPS13A ZBTB24 ZNF699 HP_PROTRUSIO_ACETABULI https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUSIO_ACETABULI COL1A1 COL1A2 CRTAP FBN1 FKBP10 HSPG2 MMP2 PLOD1 SERPINF1 SMAD3 TGFB2 TGFBR2 HP_PROTUBERANT_ABDOMEN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTUBERANT_ABDOMEN BMPER COL11A1 COL11A2 COL2A1 CYP27B1 CYP2R1 DICER1 DLK1 DLL3 DYM FBN1 FGFR3 FLNB G6PC1 GBA1 GNE GNPTAB GUSB IDUA IFT122 IFT52 INPPL1 KAT6A KIAA0753 LBR LIPA MEG3 MESP2 MTOR NKX3-2 PSAT1 PSMB8 PTH1R RTL1 SLC26A2 SLC35D1 SLC37A4 SMARCAL1 SMPD1 TRIP11 TXNDC15 VDR HP_PROXIMAL_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_AMYOTROPHY ADSS1 ANO5 ARMC5 ATRX BRAF CAPN3 CDH23 CRPPA DNM2 DOK7 DYNC1H1 DYSF EMD FHL1 FKRP FKTN FUS GFPT1 GNAS HNRNPDL INPP5K LMNA MGME1 MORC2 MT-TE MTMR14 MYH7 NEFL NR3C1 PEX6 POMT1 POMT2 REEP1 RYR1 SGCB SGCD SLC12A6 SMN1 SMN2 SPG11 SPTLC1 STIM1 SYNE1 SYNE2 SYT2 TCAP TFG TMEM43 TNNT1 TNXB TP53 TRIM32 TRPV4 USP48 USP8 VAPB VMA21 HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS BRF1 DNAJC21 EFL1 PCNT RET RSPRY1 SBDS SRP54 HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY CFAP410 COL10A1 CSPP1 DNAJC21 KIAA0586 SBDS SRP54 TRPV4 UFSP2 HP_PROXIMAL_HYPERREFLEXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_HYPERREFLEXIA ABCC9 ALDH18A1 ANO10 ARL6IP1 ATP13A2 CAPN1 COX4I1 CYP2U1 ERLIN2 FAR1 FLRT1 FTL HARS1 HEXB HSPD1 IBA57 KIF5A KLC2 KPNA3 MTPAP NONO PGM3 REEP1 RTN2 SACS SDHA SDHAF1 SDHB SDHD SIGMAR1 SPAST SPG11 SPTLC2 TMEM63C TNR UBAP1 VPS37A WASHC5 HP_PROXIMAL_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS ABHD5 ACADM ACBD5 ACTA1 ACTN2 ADSS1 AGRN AK9 ALG14 ALG2 ALS2 ANO5 ANXA11 ARMC5 ASAH1 ATP6V1E1 ATP7B ATXN1 BAG3 BICD2 BIN1 BTNL2 BVES CACNA1S CAPN3 CASQ1 CAV3 CAVIN1 CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CNBP COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COL9A3 COLQ COQ8A CPOX CPT1C CRPPA CRYAB DAG1 DES DGUOK DMD DMXL2 DNA2 DNAJB6 DNM2 DOK7 DPAGT1 DPM3 DYNC1H1 DYSF EGR2 EMD FBXO38 FDX2 FHL1 FKRP FKTN FLAD1 FLNC FUS FXR1 GAA GABRA3 GAN GATM GDAP1 GFPT1 GIPC1 GMPPB GNAS GNE GOSR2 HACD1 HEXB HK1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HSPG2 IGHMBP2 INPP5K ITGA7 JAG1 JAG2 JPH1 KCNE3 KCNJ18 KY LAMA2 LAMB2 LAMP2 LARGE1 LDB3 LIPE LMNA LPIN1 LRIF1 LRP12 LRP4 LTBP4 MAP3K20 MB MEGF10 MFN2 MICU1 MLIP MORC2 MPZ MSTO1 MT-ATP6 MT-CO1 MT-CO3 MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MTAP MTMR14 MTMR2 MUSK MYBPC1 MYF6 MYH14 MYH2 MYH7 MYL1 MYMK MYO9A MYOT MYPN NARS2 NDRG1 NDUFA1 NEB NEFH NEFL NOTCH2NLC NUTM2B-AS1 OAT OBSCN OPA1 ORAI1 PABPN1 PHKA1 PIGN PLEC PLEKHG5 PMP22 PNPLA2 PNPLA8 POGLUT1 POLG POLG2 POLR3GL POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPOX PREPL PRKACA PRX PUS1 PYGM PYROXD1 RAPSN RBCK1 REEP1 RILPL1 RNU12 RRM2B RUSC2 RYR1 RYR3 SBF2 SCN4A SDHA SDHAF1 SDHB SDHD SECISBP2 SELENON SGCA SGCB SGCD SGCG SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC22A5 SLC25A1 SLC25A21 SLC25A4 SLC25A42 SLC52A3 SLC5A7 SLC9A7 SMN1 SMN2 SMPX SNAP25 SORD SPEG SPG11 SPTLC1 SQSTM1 STAC3 STIM1 SYNE1 SYNE2 SYT2 TAFAZZIN TARDBP TBK1 TCAP TFG TK2 TMEM126B TMEM43 TNNT1 TNXB TOP3A TPM2 TPM3 TRAPPC11 TRDN TRIM32 TRPV4 TTN TWNK UBA1 UNC45B VAMP1 VAPB VCP VMA21 VWA1 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS ADSS1 ANO5 ANXA11 ATP7B BICD2 BIN1 CHCHD10 COL12A1 COL6A1 COL6A2 COL6A3 CPOX CRPPA CRYAB DMD DMXL2 DNM2 DYNC1H1 DYSF EMD FHL1 FLNC GDAP1 GNE HEXB HMBS HNRNPA1 HSPG2 JAG2 LAMA2 LIPE LMNA MB MFN2 MLIP MORC2 MTMR14 MYF6 MYH7 NEFL PHKA1 PIGN POGLUT1 POLG POLG2 POPDC3 REEP1 RRM2B RYR1 SBF2 SCN4A SECISBP2 SLC25A4 SMN1 SMPX SORD SPG11 SYNE1 SYNE2 TCAP TMEM43 TNNT1 TRIM32 TTN TWNK VCP VMA21 VWA1 HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS ADSS1 AGRN AK9 ANO5 ANXA11 BIN1 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 CPOX CRPPA DNM2 DOK7 DYSF EMD FBXO38 FHL1 GDAP1 GIPC1 GMPPB HMBS JAG1 JAG2 KY LAMA2 LDB3 LIPE LMNA LPIN1 LRP12 LRP4 MFN2 MORC2 MT-CO1 MT-CO3 MTMR14 MUSK MYF6 NEFL NOTCH2NLC OBSCN POMT1 PPOX RAPSN RILPL1 RYR1 SBF2 SCN4A SLC12A6 SMPX SPG11 SYNE1 SYNE2 TCAP TMEM43 TRPV4 VCP VWA1 HP_PROXIMAL_PLACEMENT_OF_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_PLACEMENT_OF_THUMB ALG12 ANKRD11 B3GLCT BAP1 BMP4 BRCA1 BRD4 CDC42 CRIPT DHCR7 EFTUD2 EIF4A3 ESCO2 FANCB FLNA FRA10AC1 GATA4 HDAC8 HOXA13 KCNH1 LONP1 MGAT2 NIPBL NKX3-2 NOG PTRH2 RAD21 RAD51C RECQL RRAS2 SHMT2 SIN3A SLC26A2 SMC1A SMC3 TFAP2A TP63 ZC4H2 ZIC3 ZNF462 HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS B3GALT6 CHSY1 FGFR2 FGFR3 HOXA11 TWIST1 HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS ALDOB CA2 EHHADH GATA3 GATM NDUFAF6 OCRL PC SLC34A1 SLC4A4 UQCC2 HP_PROXIMAL_SYMPHALANGISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_SYMPHALANGISM BHLHA9 CHSY1 GDF5 NOG NONO PQBP1 PTDSS1 ROR2 HP_PROXIMAL_TUBULOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_TUBULOPATHY ALDOB CLCN5 COG6 CTNS ETFA ETFB ETFDH FOXRED1 HBB LRP2 MPI MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL OCRL PMM2 POLRMT RRM2B SLC34A1 TIMMDC1 TMEM126B HP_PRURITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRURITUS ABCA12 ABCB11 ABCB4 ABCC6 ADA ALOX12B ALOXE3 AQP5 ASPRV1 ASXL1 ATP2A2 ATP7B ATP8B1 BRCA1 BRCA2 CARD14 CAST CBL CCDC47 CD28 CDSN CERS3 CFTR CHD7 CHST8 CLDN1 CLEC7A COL7A1 CST6 CTLA4 CTNNB1 CYP4F22 DCDC2 DCLRE1C DNASE1L3 DSG4 DSP ENPP1 EPAS1 EPOR FDPS FECH FH FLG2 FLI1 GATA1 GPNMB GPR35 GSN HLA-DRA HSD3B7 IL12A IL12RB1 IL17F IL17RA IL17RC IL2RG IL31RA IL6ST IL7R IRF5 JAK2 KIF12 KIT KRT10 KRT14 KRT5 KRT74 LBR LDHA LIG4 LIPA LIPN LRP1 MC1R MED12 MIA3 MMEL1 MPL MST1 MVD MVK MYO5B NIPAL4 NLRP3 NR1H4 NRAS OSMR PDGFRA PEPD PERP PKHD1 PKP1 PLCG2 PLEC PMVK PNPLA1 POFUT1 POGLUT1 POU2AF1 PSENEN PTPN3 RAG1 RAG2 RMRP RUNX1 SCN10A SCN11A SCN9A SDR9C7 SEMA4D SEMA7A SLC17A9 SLC27A4 SLCO1B1 SLCO1B3 SPIB SRSF2 ST14 STAT3 STX3 SULT2B1 TCF4 TET2 TGM1 THPO TJP2 TNFRSF1B TNFSF15 TNPO3 TRAF3IP2 TRPM4 TRPV3 UNC45A UROD UROS USP53 VIPAS39 VPS33B XPNPEP2 ZFYVE19 ZNF341 HP_PSEUDOARTHROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOARTHROSIS CBFB CCDC134 EFNB1 FGFR1 MET MYF5 NF1 WNT7A ZMPSTE24 HP_PSEUDOBULBAR_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_PARALYSIS ACTB ADGRG1 ALDH18A1 ALS2 B4GALNT1 CYP27A1 DCTN1 FIG4 HMBS HTRA1 LMNB1 NEFH NONO NOTCH3 NUS1 PI4KA PRPH RARS1 SEC31A SOD1 SRPX2 TGM6 ZFYVE26 HP_PSEUDOBULBAR_SIGNS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_SIGNS ACTB ADGRG1 ADSS1 ALDH18A1 ALS2 AP4M1 ASPA B4GALNT1 CYP27A1 DCTN1 DNMT1 ERLIN2 FBLN1 FIG4 GM2A HMBS HTRA1 LMNB1 NEFH NONO NOTCH3 NUS1 PI4KA PRPH PUS3 RARS1 SEC31A SOD1 SPG7 SRPX2 TGM6 ZFYVE26 HP_PSEUDOEPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES BMPR1B COG4 CPLX1 CTBP1 FGFRL1 GDF5 HOXA13 KCNH1 LETM1 MAP3K7 NKX3-2 NPR3 NSD2 PCNT PTH1R RAB23 RPS6KA3 SALL1 HP_PSEUDOEPIPHYSES_OF_HAND_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_HAND_BONES BMPR1B COG4 CPLX1 CTBP1 FGFRL1 GDF5 KCNH1 LETM1 NKX3-2 NPR3 NSD2 PCNT RAB23 RPS6KA3 SALL1 HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS COG4 CPLX1 CTBP1 FGFRL1 LETM1 NPR3 NSD2 PCNT RPS6KA3 SALL1 HP_PSEUDOEPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND BMPR1B GDF5 KCNH1 NPR3 RAB23 HP_PSEUDOHYPOALDOSTERONISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOHYPOALDOSTERONISM CUL3 KLHL3 NR3C2 SCNN1A WNK1 WNK4 HP_PSORIASIFORM_DERMATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSORIASIFORM_DERMATITIS ADAM17 AP1S3 BCL11B CACNA1G CARD14 CTLA4 DSG1 EGFR FLI1 FOXP3 GATA3 GJB2 GJB6 HLA-B HLA-C HLA-DQB1 HLA-DRB1 IGHG2 IGKC IL2RA IL36RN IRF2BP2 KNSTRN LIG4 MSMO1 NFKB2 PI4KA PIK3CD SLC29A3 TP63 TTC7A HP_PSORIASIFORM_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSORIASIFORM_LESION CARMIL2 IL7R LDHA LRBA RIGI HP_PSYCHIC_EPILEPTIC_AURA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHIC_EPILEPTIC_AURA DEPDC5 GAL LGI1 MICAL1 NPRL2 NPRL3 PDE2A PRRT2 RELN SCN8A HP_PSYCHOMOTOR_DETERIORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOMOTOR_DETERIORATION ATP6V0A2 ATP6V1A ATP6V1E1 CLN3 COG2 GALC GALK1 HEXA KCNQ2 KCNQ3 KMT2A PLA2G6 PLP1 PPT1 PRRT2 PSAP RNASEH1 RRM2B SCN2A SCN8A HP_PSYCHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOSIS AARS2 ABCD1 ACADS AIP ALDH18A1 ALDH4A1 ALDH5A1 ARMC5 ATP13A2 ATRX ATXN7 BRAF CABP4 CACNA1A CBS CDH23 CHMP2B CHRNA2 CHRNA4 CHRNB2 CLN3 CPOX CRH CTLA4 DCAF17 DEPDC5 DNASE1 DNMT1 EIF3F EPM2A FAR1 FCGR2A FCGR2B FIG4 FRRS1L FTL GCLC GNAS GRIN2A GRN GSS H4C3 HERC2 HMBS IRAK1 ITM2B JARID2 KCNN2 KCNT1 MAGEL2 MAPT MECP2 MED12 MKRN3 MMACHC MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MYORG NAGS NDN NDP NHLRC1 NOTCH3 NPAP1 NPC1 NPC2 NR3C1 OCA2 PAH PAK3 PANK2 PARK7 PCDH19 PDE11A PDGFB PDGFRB PIDD1 PITRM1 PPOX PRDM8 PRKAR1A PRNP PRORP PSEN1 PTPN22 PUS3 PWAR1 PWRN1 RPS6KA3 SAT1 SIM1 SLC12A6 SLC20A2 SLC25A13 SLC6A19 SLC7A7 SNORD115-1 SNORD116-1 SNORD118 SNRPN SOBP SPART SPG11 SPP1 SQSTM1 SRCAP STAT4 TBC1D7 TMEM106B TP53 TREM2 TREX1 TRRAP TTC19 TWNK UPF3B USP48 USP8 VCP VPS13A WARS2 WFS1 ZDHHC9 ZFYVE26 ZMYM2 HP_PSYCHOTIC_EPISODES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_EPISODES ARMC5 ATP13A2 ATRX BRAF CDH23 GNAS HMBS MTHFR NAGS NR3C1 PARK7 PITRM1 SLC7A7 SNORD118 TP53 USP48 USP8 HP_PSYCHOTIC_MENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_MENTATION AIP ALDH4A1 CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 FIG4 FRRS1L GRIN2A GSS KCNT1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR USP8 HP_PTERYGIUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTERYGIUM ADGRG6 ALPK3 BHLHA9 CHRNA1 CHRND CHRNG CHUK DDB2 DKC1 DOK7 EFNB1 ERCC2 ERCC3 ERCC4 ERCC5 FKBP10 FLVCR2 GPC6 HSPG2 IGF2 IRF6 IRX5 ITGA6 ITGB4 KIF14 KIF21A LMX1B MMP14 MMP2 MUSK MYH3 MYOD1 NHP2 NOP10 NUP88 PHGDH PITX1 PLEC PLOD2 RAPSN RIPK4 SLC18A3 TUBA1A XPA XPC HP_PTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTOSIS AARS1 ABCC8 ABHD5 ACBD5 ACKR3 ACTA1 ACTB ACTG1 ACTL6B ADA2 ADAR ADNP ADPRS AEBP1 AFF4 AFG3L2 AGRN AHDC1 AHI1 AIP AK9 AKT1 ALDH18A1 ALDOA ALG14 ALG2 ALX1 ALX3 ANAPC7 ANKLE2 ANKRD11 ANO10 ANOS1 ANXA11 AP3B2 APC ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARV1 ARVCF ASXL2 ATG7 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATP6V1B2 ATPAF1 ATPAF2 ATRX ATXN3 AUTS2 B3GLCT B9D1 B9D2 BAP1 BCAS3 BCOR BCS1L BDNF BIN1 BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRIP1 BRPF1 C1QBP CACNA1A CACNA1B CACNA2D1 CAPN15 CBL CBY1 CC2D2A CCDC115 CCDC141 CCDC47 CDC42 CDC42BPB CDH11 CDH23 CDK13 CDK19 CDK8 CELF2 CEP104 CEP120 CEP290 CEP41 CERT1 CFL2 CHAT CHCHD10 CHD4 CHD7 CHD8 CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN3 CLTC CNKSR2 CNP CNTNAP1 COA8 COL13A1 COL1A2 COL25A1 COL2A1 COL3A1 COL9A3 COLEC10 COLEC11 COLQ COMT COQ2 COQ8A COX10 CPLANE1 CPLX1 CREBBP CSNK2A1 CSPP1 CTBP1 CYC1 CYFIP2 DALRD3 DARS2 DBH DCC DCHS1 DDC DDX59 DGUOK DHCR7 DHDDS DHX37 DIS3L2 DLAT DNA2 DNM1 DNM1L DNM2 DOK7 DPAGT1 DPF2 DUSP6 DVL1 DVL3 EARS2 ECEL1 EDEM3 EDN1 EDNRB EED EEF1A2 ELN EMD EP300 EPG5 ERBB2 ERBB3 ERCC4 ERF ESCO2 EXOC8 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBLN5 FBN1 FBXL3 FBXO28 FDX2 FEZF1 FGD1 FGF10 FGF12 FGF13 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FLI1 FLNA FLRT3 FOXC2 FOXL2 FOXP1 FOXRED1 FUS FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GATA1 GATA3 GBA1 GCK GFER GFPT1 GIPC1 GLE1 GLI3 GMPPA GMPPB GNAI3 GNB2 GP1BB GPC4 GPRASP2 GRIA3 GRIN2D GRM1 GSN H4C3 HCN1 HDAC8 HEATR3 HECW2 HESX1 HIRA HK1 HLA-B HLA-DRB1 HMGB3 HNRNPK HOXB1 HPGD HRAS HS6ST1 HSPG2 HUWE1 HYLS1 IARS2 IDS IDUA IER3IP1 IFIH1 IFT74 IGF1 IL17RD INPP5E INS IPO8 IREB2 ISCU ITCH JAG2 JARID2 JMJD1C KANSL1 KAT6A KATNIP KBTBD13 KCNA2 KCNB1 KCNH1 KCNJ11 KCNN2 KDM1A KDM5B KDM6A KIAA0586 KIAA0753 KIF11 KIF1B KIF21A KIF5A KIFBP KITLG KLHL41 KMT2A KMT2B KMT2D KRAS LAMB2 LETM1 LGI4 LIG3 LIG4 LMNA LMOD3 LMX1B LONP1 LRP12 LRP4 LSM11 LYRM7 LZTR1 MAD2L2 MAF MAFB MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MARK3 MASP1 MBTPS2 MECP2 MED12 MED12L MED13L MED25 MEN1 MGME1 MICU1 MID1 MID2 MINPP1 MITF MKS1 MRAS MRPS28 MRPS34 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-TL1 MT-TL2 MT-TN MT-TS1 MTMR14 MTRFR MTSS2 MTTP MUSK MYF5 MYF6 MYH2 MYH3 MYH8 MYL2 MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NARS2 NDNF NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEFL NELFA NF1 NGLY1 NIPBL NOG NOP56 NOTCH2NLC NOTCH3 NOVA2 NPHP1 NPTX1 NRAS NSD2 NSUN2 NTRK2 NUBPL NUS1 NUTM2B-AS1 NXN ODC1 OFD1 OGDHL OPA1 P4HA2 PABPN1 PACS1 PACS2 PAH PALB2 PARS2 PAX3 PAX6 PAX7 PDE4D PDE6D PDGFRB PDHA1 PDX1 PDZD8 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF6 PHIP PHOX2A PHYH PIBF1 PIEZO2 PIGG PIGL PIGQ PIK3R2 PLCB4 PLEC PLOD1 PLXNA1 PLXND1 POLG POLG2 POLRMT PPP1CB PPP1R12A PPP2R5D PPP3CA PRDX3 PREPL PRMT7 PROK2 PROKR2 PRPS1 PRR12 PSAP PSMD12 PTEN PTPN11 PTPN22 PTS PUF60 PUM1 PURA PYROXD1 QRICH1 RAB3GAP1 RAD21 RAD51 RAD51C RAF1 RALA RAPSN RASA2 RB1 RBCK1 RBM8A RERE REV3L RFWD3 RILPL1 RIT1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 ROBO1 ROR2 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RRM2B RSPRY1 RYR1 SALL4 SAMHD1 SBF2 SC5D SCN3A SCN4A SCN8A SCO2 SDHA SEC24C SECISBP2 SEMA3A SEMA3E SEPTIN9 SETBP1 SETD5 SF3B2 SF3B4 SGPL1 SHANK3 SHOC2 SIAH1 SIX2 SKI SLC12A6 SLC13A5 SLC17A5 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC25A1 SLC25A4 SLC30A9 SLC38A3 SLC3A1 SLC52A3 SLC5A7 SLC6A8 SLC6A9 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMS SNAI2 SNAP25 SOS1 SOS2 SOST SOX10 SOX11 SOX4 SPECC1L SPR SPRED1 SPRED2 SPRY4 SQSTM1 STAC3 STAMBP STAT3 SUCLA2 SUCLG1 SUFU SURF1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TAB2 TACR3 TAF8 TARDBP TBC1D20 TBC1D24 TBC1D2B TBK1 TBX1 TCF12 TCOF1 TCTN1 TCTN2 TCTN3 TENM3 TET3 TFAP2A TFAP2B TFE3 TGFB2 TGFB3 TGIF1 TH THUMPD1 TIMMDC1 TK2 TLK2 TMCO1 TMEM107 TMEM126B TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM43 TMEM67 TMLHE TNPO3 TOGARAM1 TOP3A TOR1A TP63 TPM2 TPM3 TRAF7 TRAK1 TREX1 TRIO TRPM3 TSPOAP1 TSR2 TTN TTR TUBA1A TUBB2B TUBB3 TUBB6 TWIST1 TWNK TYMP TYMS TYR UBA1 UBA5 UBE2T UBE3B UBR7 UFD1 UGDH UNC80 VAMP1 VARS2 VCP WDR11 WDR35 WDR73 WFS1 WNT5A WT1 WWOX XRCC2 YAP1 YARS2 YWHAG YY1 ZBTB20 ZC4H2 ZEB2 ZFHX4 ZIC1 ZMIZ1 ZMYND11 ZNF407 ZNF423 ZNF462 ZNF699 ZSWIM6 HP_PUBERTY_AND_GONADAL_DISORDERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUBERTY_AND_GONADAL_DISORDERS ABCA4 ABCD1 AGBL5 AGPAT2 AHI1 AHR AHSG AIP AIRE AKT1 ALDOA ALG1 ALG6 ALMS1 ALX4 AMACR ANAPC1 ANK1 ANOS1 ANTXR1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARSL ARX ASXL3 ATAD3A ATM ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATRX AXL BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCS1L BEST1 BMP15 BMP2 BMP4 BMP6 BMPR1B BNC1 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRIP1 BSCL2 BTK BUD23 CA4 CAMKMT CARS1 CASK CASZ1 CAV1 CAVIN1 CBL CBX2 CC2D2A CCDC141 CCDC28B CDH23 CDHR1 CDKL5 CDKN1C CDON CENPT CEP19 CEP290 CERKL CFAP418 CHD4 CHD7 CHRNG CISD2 CLCNKB CLIP2 CLPP CLRN1 CNBP CNGA1 CNGB1 CNTNAP2 COL25A1 COL7A1 COQ2 CPE CPLX1 CRB1 CREBBP CRX CTBP1 CTDP1 CTNNB1 CTNS CUL4B CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DACT1 DCAF17 DCC DCHS1 DDB2 DDX3X DEAF1 DHCR7 DHDDS DHH DHX37 DHX38 DIAPH1 DISP1 DLK1 DLL1 DMPK DMRT1 DMRT3 DMXL2 DNAJC30 DNAL4 DNM1L DUSP6 DYRK1A EHMT1 EIF2B1 EIF2S3 EIF4H EIF5A ELN ENTPD1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 EXT2 EYS FAM111B FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FEZF1 FGD1 FGF17 FGF8 FGFR1 FGFRL1 FKBP6 FLI1 FLII FLRT3 FMR1 FOS FOXA2 FOXH1 FOXL2 FREM1 FSCN2 FSHB FSHR G6PC1 GABRD GALK1 GALT GAS1 GATA4 GBA1 GHR GHSR GJB2 GLA GLI2 GLI3 GMNN GNAO1 GNAS GNRH1 GNRHR GPR101 GPR161 GRB10 GRIA1 GRIN1 GRM7 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C5 H6PD HACE1 HAMP HBB HDAC8 HERC2 HESX1 HFE HGSNAT HJV HLA-DQA1 HLA-DQB1 HNRNPR HRAS HS6ST1 HSD11B1 HSD17B3 HSD3B2 HSPG2 HYMAI IDH1 IDH2 IDH3A IDH3B IER3IP1 IFNG IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IGFALS IL17RD IMPDH1 IMPG1 IMPG2 INPP5K INSR IQSEC2 ITGB6 KANSL1 KCNA1 KCNAB2 KCNQ2 KCNT1 KDM6A KIAA1549 KIF21A KISS1 KISS1R KIZ KLHL7 KMT2B KMT2C KMT2D KRAS LAS1L LEP LEPR LETM1 LGR4 LHB LHCGR LHX3 LHX4 LIG3 LIMK1 LMNA LPIN2 LRAT LRP5 LSS LUZP1 LZTFL1 LZTR1 MAB21L2 MAD2L2 MAGEL2 MAK MAMLD1 MAP2K1 MAP3K1 MAP3K7 MC2R MDM2 MECP2 MEG3 MEN1 MERTK METTL27 MGME1 MIA3 MKKS MKRN3 MKS1 MLXIPL MMP1 MMP14 MMP2 MMP23B MRAP MRAS MRE11 MRPS22 MRPS7 MSH4 MSL3 MSMO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MYH3 NCF1 NDN NDNF NDP NECTIN1 NEK2 NEUROD2 NF1 NF2 NFIX NHLH2 NIPBL NLRP3 NNT NODAL NONO NOTCH2 NPAP1 NPHP1 NR0B1 NR2E3 NR3C1 NR5A1 NRAS NRL NSD2 NSMCE2 NSMF NTN1 NUP107 OCA2 OCRL OFD1 OPA1 OTX2 PALB2 PAPSS2 PCARE PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDGFB PDPN PEX1 PEX10 PEX6 PGM1 PHF21A PHF6 PHGDH PHKA2 PHKG2 PHOX2A PIGA PIGF PIGP PIGQ PIGT PIK3CA PLAGL1 PLCB1 PLXND1 PMFBP1 PMM2 PNKP PNPLA6 POF1B POLA1 POLD1 POLE POLG POLR1C POLR3A POLR3B POLR3GL POLR3H POLR3K POMC POMGNT1 POR POU1F1 PPARG PPM1B PPP1R15B PRCD PRDM13 PRDM16 PREPL PRKAR1A PRKCZ PRLR PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMC3IP PTCH1 PTCH2 PTDSS1 PTH1R PTPN11 PTRH2 PUS1 PWAR1 PWRN1 PYGL RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RASA2 RBM28 RBP3 RDH12 RECQL4 REEP6 RERE REV3L RFC2 RFWD3 RGR RHO RIN2 RIT1 RLBP1 RNF216 RNU4ATAC ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RRAS RRAS2 RRM2B RTL1 SAG SALL1 SAMD9 SCAPER SCARB2 SCLT1 SCN1A SCN1B SCN2A SCP2 SDCCAG8 SEMA3A SEMA3E SEMA4A SGPL1 SHH SIK1 SIL1 SIM1 SIX3 SIX6 SKI SLC12A3 SLC12A5 SLC25A13 SLC25A22 SLC29A3 SLC32A1 SLC35A2 SLC37A4 SLC39A4 SLC3A1 SLC7A14 SLX4 SMAD4 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMO SMPD1 SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX11 SOX2 SOX3 SOX6 SOX9 SPATA7 SPEN SPIDR SPRED2 SPRTN SPRY4 SPTBN1 SQSTM1 SRA1 SRCAP SRY STAR STAT1 STAT3 STAT5B STEAP3 STIL STK11 STS STUB1 STX1A SUFU SUN5 TAC3 TACR3 TAF13 TANGO2 TBC1D20 TBC1D24 TBL2 TBX3 TCF12 TDGF1 TERT TFE3 TFR2 TGFB1 TGIF1 TMEM270 TNRC6B TOM1 TONSL TOPORS TP53 TP63 TRAF3IP1 TRAF7 TRIM32 TRIM8 TRIP4 TRMT10A TSC1 TSC2 TTC8 TUB TUBA1A TUBB2B TUBB3 TULP1 TWNK TXNRD2 TYMP UBE2T UBE4B USH2A USP7 USP9X VAMP7 VPS13B VPS37D VPS4A WDPCP WDR11 WFS1 WRN WT1 WWOX XPA XPC XRCC2 XRCC4 YARS2 ZBTB20 ZFPM2 ZIC2 ZMPSTE24 ZNF408 ZNF513 ZNF526 ZSWIM7 HP_PULMONARY_ARTERIAL_HYPERTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERIAL_HYPERTENSION ABCC6 ABCD4 ACTA2 ACTC1 ACVRL1 AFF4 AGK AGR2 ALDH1A2 ALMS1 ARHGAP31 ARSB ATP13A3 ATP5F1A BANF1 BMPR2 BTNL2 CA2 CACNA1C CACNA1D CAV1 CCN2 CCR6 CHST3 CITED2 CLCN7 COG1 COL1A1 COL1A2 COLQ COX5A COX6B1 COX7B COX8A CTCF DEF6 DLK1 DLL4 DOCK6 EIF2AK4 ENG ENPP1 EOGT FBN1 FGFR1 FGFR3 FIG4 FLNA FOXF1 FOXP1 G6PC3 GATA4 GATA6 GBA1 GDF2 HBB HLA-B HLA-DRB1 HSPG2 IDUA IKBKG IL12B IL6ST IPO8 IRF5 JAK2 KCNK3 KIAA0319L KMT2D KRAS KRT18 LAMA2 LAMB2 LARS2 LIFR LIPT1 LMNA MED12 MED25 MEG3 MGP MLX MMACHC MPL MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MUC5B MYBPC3 MYH6 MYH7 MYMK NAA10 NDUFA8 NDUFB10 NF1 NFIX NFU1 NKX2-1 NKX2-5 NOD2 NOTCH1 ODAD1 PAM16 PDSS1 PGM1 PIGN PPCS PRIM1 RBPJ RPL3L RTL1 SARS2 SCARB2 SFTPA2 SFTPB SFTPC SLC25A24 SLC29A3 SLC37A4 SMAD4 SMAD9 SMARCAL1 SNX10 STAT1 TBX20 TBX4 TCIRG1 TERT THPO THSD1 TLL1 TNFSF11 TOM1 TRRAP TTC26 UBE2A VAC14 VCL VHL VPS33A ZMPSTE24 ZNF699 HP_PULMONARY_ARTERY_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ANEURYSM BGN COL3A1 COL5A1 EFEMP2 IPO8 TGFBR1 TGFBR2 HP_PULMONARY_ARTERY_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ATRESIA ACVR2B ARHGAP31 CHD7 CIROP CRELD1 DGCR2 DGCR6 DGCR8 DLL4 DOCK6 DVL3 EOGT ESS2 FADD FLT4 FRA10AC1 GDF1 MMP21 NKX2-5 NKX2-6 NODAL NOTCH1 OTUD5 PKD1L1 PLD1 PLXND1 RBPJ SMARCA4 STRA6 TBX1 TMEM94 TRAF7 HP_PULMONARY_ARTERY_DILATATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_DILATATION ACTA2 ADAMTS19 BGN COL3A1 COL5A1 EFEMP2 FBN1 FOXF1 IPO8 TGFBR1 TGFBR2 TLL1 TTC26 HP_PULMONARY_ARTERY_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_HYPOPLASIA AASS ALDH1A2 CCDC22 MGP MMP21 MYH7 NKX2-6 PLXND1 TRAIP HP_PULMONARY_ARTERY_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_STENOSIS ALDH18A1 ARHGAP31 ARSL BAZ1B BCL11B BCL7B BCOR BUD23 CBL CCNQ CLCN7 CLIP2 CNTN1 DLK1 DNAJC30 EFEMP2 EIF4H ELN FBLN5 FGFR1 FKBP6 FOXF1 GATA1 GATA4 GATA6 GPC6 GTF2I GTF2IRD1 GTF2IRD2 IFT43 JAG1 KRAS LIMK1 LTBP1 LTBP4 LZTR1 MED12 MEG3 METTL27 MGP MLXIPL MRAS NAA10 NCF1 NKX2-5 NKX2-6 NOTCH2 NRAS ODAD1 PIGL PIGN PIGO PLXND1 POLA1 PPP1CB PTPN11 RAF1 RASA2 RFC2 RIT1 RPL10 RRAS RRAS2 RTL1 SKIC2 SKIC3 SLC2A10 SNX10 SOS1 SOS2 SPRED2 STX1A TAOK1 TBL2 TCIRG1 TMEM270 TNFSF11 UBE2A VPS37D WNT4 WRN ZEB2 HP_PULMONARY_CARCINOID_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CARCINOID_TUMOR ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX LMNA MEN1 SDHD HP_PULMONARY_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CYST ABCA3 AKT1 ATP11A DICER1 DPP9 DSP FAM13A FLCN IL6ST MUC5B PARN PI4KA PTEN RTEL1 SFTPA1 SFTPA2 SFTPC SREBF1 STN1 TERC TERT TTC7A WNT4 YARS1 HP_PULMONARY_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EDEMA ABCA3 CD46 CFH CFI EIF2AK4 EPHB4 FLNC FOCAD FSHR HELLPAR KIF20A LRPPRC MOGS MT-CYB MYBPC3 MYPN NAA10 NKX2-6 PLXND1 PRKAG2 SFTPB SFTPC TNNI3 TNNT2 TTR HP_PULMONARY_EMBOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EMBOLISM ACVRL1 AGGF1 AKT1 C4A CBS CCR1 CD55 ENG ERAP1 F13A1 F2 F8 FAS GDF2 GNAQ HABP2 HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KCNJ5 KLRC4 MEFV MMACHC MPL MTHFR PIGA PLP1 PROC PROS1 PTEN RHAG SERPINC1 SMAD4 STAT4 TET2 THBD TLR4 UBAC2 HP_PULMONARY_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_FIBROSIS ABCA3 AP3B1 ATP11A BACH2 BMP15 BNC1 BTNL2 CASP10 CAV1 CCN2 CCR6 CTC1 CTLA4 CYBC1 DKC1 DPP9 DSP EHHADH FAM111B FAM13A FAS FASLG FSHR GATM GBA1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HPS1 HPS4 HPS6 IL1RN IRF5 KIAA0319L MARS1 MRPS22 MSH4 MUC5B NAF1 NDUFAF6 NHLRC2 NHP2 NKX2-1 NOP10 NPC2 NR5A1 NUP107 PARN PLEC POLR3H PRKCD PRTN3 PSMC3IP PTPN22 RAC2 RASGRP1 RCBTB1 RNF168 RPA1 RTEL1 SFTPA1 SFTPA2 SFTPC SLC34A1 SLC34A2 SP110 SPIDR STING1 STN1 TERC TERT THOC2 TINF2 TOM1 TP53 ZCCHC8 ZSWIM7 HP_PULMONARY_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HEMORRHAGE BCOR COL3A1 COPA CTCF CTLA4 EIF2AK4 ENG FIP1L1 HLA-DPA1 HLA-DPB1 HMOX1 IRF2BP2 NABP1 NLRC4 NPM1 NUMA1 PML PRKAR1A PRTN3 PTPN22 RARA SLC35A1 SLC7A7 SP110 STAT3 STAT5B TBL1XR1 WAS WIPF1 ZBTB16 ZNFX1 HP_PULMONARY_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HYPOPLASIA AARS2 ACE ACTA1 ADGRG6 AGT AGTR1 ALDH1A2 ALG3 ALG9 ASCC1 ATP5F1A B3GALT6 BCOR BMPER CC2D2A CDC45 CEP120 CEP55 CHRNA1 CHRND CHRNG COL2A1 COQ7 CSPP1 CTNNA2 DHCR7 DLK1 DOK7 DONSON DPAGT1 DYNC2H1 DYNC2I1 DYNC2I2 DZIP1L ETFA ETFB ETFDH FAM20C FANCB FGF20 FGFR3 FLNA FLNB FRAS1 FREM2 FUZ GATA6 GBA1 GFRA1 GLDN GLE1 GREB1L GRIP1 HSPG2 IFT80 IFT81 INTU INVS ITGA8 KAT6B KIAA0586 KIF21A KLHL40 KLHL41 LBR LGI4 LIFR LMNA LMOD3 LONP1 LTBP4 MCTP2 MEG3 MKKS MKS1 MUSK MYH11 MYH3 MYOD1 MYRF NAA10 NDUFB10 NEB NEK1 NEK8 NEK9 NKX2-6 NPHP3 NSDHL NUP88 PEX1 PHGDH PI4KA PIEZO2 PIGN PKHD1 PLXND1 PRRX1 PTH1R RAPSN RARB RBM10 REN RET RLIM RTL1 RYR1 SCN4A SETBP1 SF3B2 SLC18A3 SLC25A24 SLC26A2 SLC31A1 SMO SPECC1L STRA6 TAPT1 TCTN3 TMEM94 TRIP11 TRIP4 TUBA1A TXNDC15 VANGL1 WDR35 WNT3 WNT4 WNT7B WNT9B WT1 ZFPM2 ZIC3 ZMPSTE24 HP_PULMONARY_INFILTRATES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INFILTRATES APOE ASAH1 BACH2 BCL10 BCL11A BIRC3 BTNL2 C4A CASP10 CAV1 CCN2 CCR1 CCR6 CTLA4 DOCK2 ERAP1 FAS FASLG FOXP1 GBA1 HBB HBG1 HBG2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL2RA IRF5 KLF1 KLRC4 LPIN2 MALT1 MEFV MYD88 NKX2-1 PDGFRA PRIM1 PRKCD PRTN3 PTPN22 RAB27A RASGRP1 SFTPB SLC34A2 SLC41A1 SMPD1 STAT4 TLR4 TSC1 TSC2 UBA1 UBAC2 HP_PULMONARY_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INSUFFICIENCY ABCA3 ADA ADAMTS19 ARSB ATP11A COL1A1 COL1A2 DNAL1 DPP9 DSP EFEMP2 FAM13A FLNA FOXF1 GNPTAB INVS KIF20A LEMD2 MUC5B PARN RTEL1 SFTPA1 SFTPA2 SFTPC STN1 TERC TERT HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY ABCA3 ASAH1 ATP11A BMPR2 COL3A1 CSF2RA CSF2RB DPP9 DSP EIF2AK4 FAM13A HLA-DPB1 HLA-DRB1 MUC5B NKX2-1 PARN RTEL1 SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 STN1 TERC TERT HP_PULMONARY_INTERSTITIAL_THICKENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_THICKENING BMPR2 CSF2RB EIF2AK4 SFTPA1 SFTPB SFTPC SLC34A2 HP_PULMONARY_LYMPHANGIECTASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_LYMPHANGIECTASIA ADAMTS3 CCBE1 FAT4 FOXF1 SOX18 HP_PULMONARY_OPACITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_OPACITY ABCA3 AGR2 ATP11A BMPR2 COL3A1 CSF2RA CSF2RB DPP9 DSP EIF2AK4 FAM13A HLA-DPB1 IFIH1 MUC5B NKX2-1 PARN RTEL1 SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 STN1 TERC TERT HP_PULMONARY_VENOUS_HYPERTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_VENOUS_HYPERTENSION FLNC KCNN4 KIF20A MYPN PIEZO1 SLC37A4 SLC4A1 TNNI3 TNNT2 HP_PULMONIC_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONIC_STENOSIS ACAD8 ADAMTS10 ADAMTS19 ADK AGO2 ANKS6 ARHGAP31 ARPC4 B3GLCT B4GALT7 BAZ1B BCL7B BCOR BMP2 BPTF BRAF BUB1B BUD23 CCDC22 CCDC32 CCNQ CDC42 CHD3 CHD7 CHST3 CIC CIROP CLIP2 COL3A1 CREBBP CUL3 DCHS1 DDX3X DNAJC30 DPYSL5 DSG1 EIF4H ELN ENPP1 EP300 FAT4 FBN1 FBXW11 FKBP6 FKTN FLT4 G6PC3 GATA4 GATA6 GDF1 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HIVEP2 HRAS IGFBP7 KANSL1 KAT6A KCNH1 KDM6A KIF20A KRAS LIMK1 LRP4 LTBP2 LZTR1 MAP2K1 MAP2K2 MAP3K7 METTL27 MGP MLXIPL MRAS NCF1 NEK8 NEK9 NF1 NKX2-6 NOTCH1 NOTCH2 NRAS NRXN1 OTUD5 PGAP1 PLD1 PLXND1 POLR3A PPP1CB PRDM5 PSMD12 PTPN11 RAB23 RAD21 RAF1 RFC2 RIT1 RNF135 RPL27 SARDH SGO1 SHOC2 SKIC3 SLC29A3 SMAD2 SMAD3 SMAD6 SMARCA4 SMC3 SMC5 SOS1 SOS2 SPRED1 SPRED2 STRA6 STX1A TAB2 TBCK TBL2 TBX2 TMEM270 TRAF7 VPS35L VPS37D WAC WASHC5 WNT4 ZEB2 ZIC3 ZNF341 ZNF469 ZNF699 HP_PULP_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULP_CALCIFICATION COL1A1 COL5A1 COL5A2 DSPP FAM20A FGF3 GALNT3 HP_PULVERULENT_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULVERULENT_CATARACT BEST1 CRYBB1 CRYBB2 CRYGC FTL GJA5 GJA8 HSF4 LIM2 MAF VIM HP_PUNCTATE_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_CATARACT BEST1 CRYBB1 CRYBB2 CRYGC FTL GJA5 GJA8 HSF4 LIM2 MAF OPA3 RTN4IP1 SEC23A VIM HP_PUNCTATE_KERATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_KERATITIS EPCAM GJB2 GJB6 NLRP1 PERCC1 PLEC HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA CHST6 CYP4V2 KRT12 PSMB8 UBIAD1 HP_PUNCTATE_PALMOPLANTAR_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_PALMOPLANTAR_HYPERKERATOSIS AAGAB ATP2A2 CAST ENPP1 KRT14 KRT5 HP_PUNDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNDING CACNA1H GABRA1 GABRB3 GABRG2 JRK SLC2A1 HP_PURE_RED_CELL_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURE_RED_CELL_APLASIA ADA2 CTLA4 EPO GATA1 HEATR3 PNP RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 TP53 TSR2 HP_PURPURA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURPURA ACP5 ADA2 AIP APOE ARL6IP6 ARVCF ATRX BCOR BRAF C2 C4A CALR CASP10 CD109 CD19 CD81 CDH23 CFH CFHR1 CFHR3 CHST14 CLCN7 COL1A1 COL3A1 COL5A1 COL5A2 COMT CR2 CTLA4 DCLRE1B DPP9 ETHE1 ETV6 F13A1 F13B F2 F8 FCGR2C FERMT3 FIP1L1 FUCA1 FYB1 GATA1 GBA1 GFI1B GGCX GIMAP5 GNA11 GNA14 GP1BA GP1BB GP6 GP9 HCK HIRA HLA-DPA1 HLA-DPB1 HOXA11 HPS1 HPS6 ICOS IFNG IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 JMJD1C LCP2 MPL MS4A1 MVK MYD88 NABP1 NAGA NEU1 NFKB1 NFKB2 NLRP3 NPM1 NR3C1 NUMA1 OCLN ORAI1 P2RY12 PEPD PML PRF1 PRKAR1A PRKCD PROC PROS1 PRTN3 PTPN22 RAB27A RARA RREB1 SAMD9 SBDS SEC24C SH2B3 STAT3 STAT5B STIM1 STX11 STXBP2 TBL1XR1 TBX1 TBXA2R TERC TERT TET2 TFR2 TNFRSF13B TNFRSF13C TNFSF12 TP53 TREX1 UFD1 UNC13D USP18 USP48 USP8 VWF WAS WIPF1 ZBTB16 HP_PURSED_LIPS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURSED_LIPS HSPG2 LIFR MYH3 MYL11 NALCN HP_PUSTULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUSTULE ADAM17 AP1S3 CARD14 CIB1 CTSB CTSC ECM1 EGFR HLA-B IL17RA IL1R1 IL1RN IL36RN IL7 JAK3 LDHA LPIN2 MEFV MRTFA PSTPIP1 SCNN1A SCNN1B SCNN1G SLC39A4 STING1 TMC6 TMC8 HP_PYELONEPHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYELONEPHRITIS ALDH18A1 ALG5 ALG9 BICC1 BNC2 CFI DNAJB11 EFEMP2 ELN FBLN5 GANAB HOXA13 IFT140 KCTD1 LTBP1 MED12 MYH11 PKD1 PKD2 SHANK3 XDH HP_PYODERMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA BTK IL10RA LAMA3 LAMB3 LAMC2 HP_PYODERMA_GANGRENOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA_GANGRENOSUM CLPB ELANE GFI1 MEFV NFKB1 OTULIN PSTPIP1 SRP19 SRP54 TCIRG1 WDR1 HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM MAD2L2 PALB2 PNPO RAD51 RAD51C RFWD3 SLX4 UBE2T XRCC2 HP_QUADRICEPS_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_QUADRICEPS_MUSCLE_ATROPHY ADSS1 ANO5 RYR1 SMN1 SPTLC1 HP_QUADRICEPS_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_QUADRICEPS_MUSCLE_WEAKNESS ADSS1 ANO5 COL12A1 COL6A1 COL6A2 COL6A3 CRYAB DMD DYSF GDAP1 GNE HSPG2 MFN2 PHKA1 POLG POLG2 RRM2B SLC25A4 TNNT1 TRIM32 TTN TWNK VCP HP_RACHITIC_ROSARY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RACHITIC_ROSARY ALPL CTNS CYP27B1 CYP2R1 PHEX SLC34A1 SLC34A3 HP_RADIAL_BOWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_BOWING B2M B3GALT6 COL11A1 COL2A1 FGF23 FGFR3 FLNA FLNB GDF5 GLI3 HOXA11 IFT43 IHH LBR MMP13 NPR2 P3H1 PCNT PRKG2 ROR2 SHOX SLC26A2 TMEM67 TRPV4 WNT7A HP_RADIAL_DEVIATION_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_FINGER ALG9 ALX3 ANKRD11 ARL6 ATRX BBS1 BCOR BMP2 BMPR1B BPNT2 BRAF CANT1 CCDC28B CD96 CHSY1 CILK1 CNOT1 CPLANE1 CRLF1 DVL1 ESCO2 EZH2 FGD1 FGFR2 FGFR3 FLNA FLNB GDF5 HERC2 IFT122 IGF1R IHH MAGEL2 MAP2K1 MED12 MEGF8 MKRN3 MKS1 NAA10 NOG NPAP1 OFD1 PHGDH PIK3R1 PTPN11 PWAR1 PWRN1 ROR2 SF3B4 SIN3A SLC26A2 SMAD4 SNORD115-1 SNORD116-1 TGDS TRPV4 WNT5A HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER BMP2 BMPR1B CANT1 FLNA GDF5 IHH TGDS HP_RADIAL_DEVIATION_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND BGN COL9A1 COL9A2 COL9A3 EIF4A3 GLI3 PITX1 RBM8A RECQL4 SALL4 SAMD9 ZC4H2 HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND ALG9 ALX3 ANKRD11 ARL6 ATRX BBS1 BCOR BGN BMP2 BMPR1B BPNT2 BRAF CANT1 CCDC28B CD96 CHSY1 CILK1 CNOT1 COL9A1 COL9A2 COL9A3 CPLANE1 CRLF1 DVL1 EIF4A3 ESCO2 EZH2 FGD1 FGFR2 FGFR3 FLNA FLNB GDF5 GLI3 HERC2 IFT122 IGF1R IHH MAGEL2 MAP2K1 MED12 MEGF8 MKRN3 MKS1 NAA10 NOG NPAP1 OFD1 PHGDH PIK3R1 PITX1 PTPN11 PWAR1 PWRN1 RBM8A RECQL4 ROR2 SALL4 SAMD9 SF3B4 SIN3A SLC26A2 SMAD4 SNORD115-1 SNORD116-1 TGDS TRPV4 WNT5A ZC4H2 HP_RADIAL_HEAD_SUBLUXATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_HEAD_SUBLUXATION B3GALT6 BPNT2 CHD7 DCHS1 GLI3 HNRNPH1 KIF22 XYLT1 HP_RADIOULNAR_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIOULNAR_SYNOSTOSIS APC B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BICRA BRD4 BUD23 CANT1 CBL CHST3 CHSY1 CLIP2 COLEC10 COLEC11 CPLX1 CSGALNACT1 CTBP1 DHODH DNAJC30 DONSON EIF4H ELN ESCO2 FGFR2 FGFR3 FGFRL1 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HOXA11 KAT6B KRAS LETM1 LIMK1 LRP4 LZTR1 MAF MASP1 MECOM METTL27 MLXIPL MRAS NCF1 NIPBL NRAS NSD2 PIEZO2 POR PTPN11 RAD21 RAF1 RASA2 RFC2 RIT1 RPL26 RRAS RRAS2 SALL4 SETBP1 SF3B4 SMAD6 SMC1A SMC3 SOS1 SOS2 SPRED2 STX1A TBL2 TBX22 TBX5 TMEM270 TWIST1 VPS37D XYLT1 HP_RAGGED_RED_MUSCLE_FIBERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAGGED_RED_MUSCLE_FIBERS AFG3L2 AIFM1 ALG14 ALG2 BCS1L CARS2 CHCHD10 COQ2 DGUOK DPAGT1 EARS2 GFPT1 GMPPB LIG3 MEGF10 MGME1 MIEF2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-RNR1 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TL2 MT-TN MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MYH7 NARS2 NDUFS4 NEFH NUBPL PABPN1 POLG POLG2 PUS1 RNASEH1 RRM2B SCN4A SDHA SLC25A26 SLC25A32 SLC25A4 SLC25A42 SPG7 SUCLG1 TK2 TRMU TWNK TYMP UQCRQ YARS2 HP_RAPIDLY_PROGRESSIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAPIDLY_PROGRESSIVE APOE ARHGDIA ATP13A2 BAG3 C9orf72 COQ6 CRYAB CSF1R DCTN1 DNAJC5 DNAJC6 DYSF EPM2A FHL1 GDAP1 GRN HLA-DQB1 LYRM7 MFSD8 NAXE NHLRC1 NPHS1 NPHS2 NR1H4 PANK2 PEX10 PLA2G6 PLEC PLEKHG5 PNKP POLG PRNP PSEN1 SCARB2 SGCG SNCA TARDBP HP_RAYNAUD_PHENOMENON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAYNAUD_PHENOMENON ACP5 ADA2 ADAR AGXT BANK1 BLK C4A C4B CLCNKB COL4A1 COQ2 CR2 CTLA4 DNASE1 ETS1 FCGR2B FCGR3B GUCY1A1 HLA-DRB1 HRAS IFIH1 IGHG1 IL10 IRAK1 IRF5 ITGAM JAZF1 KIAA0319L LBR LMNA LSM11 MECP2 PDCD1 PTPN22 PXK RNASEH2A RNASEH2B RNASEH2C RNF125 RNU7-1 SAMHD1 SAT1 SLC12A3 SPP1 STAT4 STING1 TLR7 TNFAIP3 TNFSF4 TNIP1 TREX1 UBE2L3 ZMPSTE24 HP_REACTIVE_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REACTIVE_HYPOGLYCEMIA ALDOB GLUD1 HNF1A MEN1 PCSK1 UCP2 YY1 HP_RECEPTIVE_LANGUAGE_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECEPTIVE_LANGUAGE_DELAY AGO2 ALMS1 ATP9A CNTNAP2 EHMT1 FLCN FOXP2 GNB1 GRHL3 KMT2C PAK1 SH2B1 SPATA5 UBB HP_RECTAL_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_ABSCESS CYBA CYBB IGHM ITGB2 NCF1 NCF2 PI4KA RAC2 TTC7A VANGL1 HP_RECTAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_FISTULA CCNQ CDK8 DACT1 DDB1 DOCK2 FREM1 IL10RB JAK3 KIF7 LONP1 MID1 MKKS MNX1 PI4KA PIGN POLR1B POLR1C POLR1D RECQL4 RNU12 SALL1 SALL4 SPINT2 TCOF1 TCTN3 UBR1 HP_RECTAL_POLYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_POLYPOSIS BMPR1A ENG GREM1 MUTYH SMAD4 HP_RECTAL_PROLAPSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_PROLAPSE BAZ1B BCL7B BCOR BMPR1A BUD23 CCBE1 CEACAM3 CEACAM6 CFTR CLCA4 CLIP2 COL1A1 COL5A1 COL5A2 DCTN4 DNAJC30 EDNRA EIF4H ELN FCGR2A FKBP6 GCLC GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HFE HMOX1 INSR KCNN4 LIG4 LIMK1 LMNA LTBP4 METTL27 MIF MLXIPL MYH11 NAA10 NCF1 NSUN2 PRMT7 PTEN RFC2 RPS6KA3 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 SMAD4 STK11 STX1A TBL2 TGFB1 TMEM270 VPS37D HP_RECTOVAGINAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTOVAGINAL_FISTULA CCNQ DACT1 DDB1 FREM1 IL10RB JAK3 KIF7 LONP1 MKKS MNX1 PI4KA POLR1B POLR1C POLR1D RECQL4 RNU12 SALL1 SALL4 SPINT2 TCOF1 TCTN3 UBR1 HP_RECURRENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT ADORA2A BCKDHA BCKDHB DBT PTH SMC1A HP_RECURRENT_ABSCESS_FORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ABSCESS_FORMATION AP3B1 BTK CARMIL2 CD247 CD3D CD3E CEBPE CTSC FCN3 GJB2 GJB6 LCP2 PI4KA PSEN1 PSENEN SP110 SYK TTC7A UBE2A HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION ALDH18A1 ELN FBLN5 GBA1 PLCG2 PLEC REEP1 SDCCAG8 SLC35C1 TAP1 TAP2 TAPBP HP_RECURRENT_ASPERGILLUS_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPERGILLUS_INFECTIONS CEACAM3 CEACAM6 CFTR CLCA4 CYBA CYBB DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 KCNN4 MIF NCF1 NCF2 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STAT1 STX1A TGFB1 TOM1 HP_RECURRENT_ASPIRATION_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPIRATION_PNEUMONIA ASAH1 ATP6V0A1 CRLF1 CSPP1 EPM2A GBA1 GIPC1 HLA-DQA1 HLA-DQB1 IGBP1 KAT6A KDM6A KIAA0586 KMT2D KNSTRN LONP1 LRP12 MID1 NFIX NHLRC1 NOS1 NOTCH2NLC NTRK1 PDHA1 PIGN PIK3CD RILPL1 SLC25A24 SP110 HP_RECURRENT_BACTERIAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_INFECTIONS ACTC1 ADA ADAM17 AICDA ANTXR2 AP3B1 ATP6AP1 BLNK BTK C3 C5 C6 C7 C8B CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CD19 CD40 CD40LG CD79A CD79B CD81 CD8A CEACAM3 CEACAM6 CEBPE CFAP221 CFAP298 CFAP300 CFAP74 CFB CFD CFH CFI CFTR CIITA CITED2 CLCA4 CLPB CR2 CTSC CXCR4 CYBA CYBB DCLRE1C DCTN4 DEF6 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DNASE1L3 DOCK8 DRC1 EDNRA EFL1 EGFR ELANE EPG5 EPHB4 FCN3 FERMT3 FOXJ1 G6PC3 GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA6 GCLC GFI1 GJB2 GJB6 GPR35 GSTM3 HAX1 HBB HFE HMOX1 HYDIN ICOS IFNGR1 IFNGR2 IGHG2 IGHM IGKC IGLL1 IKBKG IKZF1 IKZF3 IL10RA IL12RB1 IL17RA IL2RA IL2RG IRAK4 ISG15 ITGB2 JAGN1 KCNN4 KNSTRN LAMA3 LAMB3 LAMC2 LCP2 LRRC56 LYST MALT1 MAN2B1 MBL2 MBTPS2 MCIDAS MIF MS4A1 MST1 MYD88 MYH6 NCF1 NCF2 NEK10 NFKBIA NHEJ1 NKX2-5 NME5 NME8 NTRK1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTULIN PGM3 PIK3CD PIK3R1 PNP POMP PSEN1 PSENEN RAB27A RAG1 RAG2 RBCK1 RFX5 RFXANK RFXAP RPGR RSPH1 RSPH3 RSPH4A RSPH9 SAMD9 SBDS SCNN1A SCNN1B SCNN1G SEMA4D SERPINA1 SH3KBP1 SLC11A1 SLC26A9 SLC35A1 SLC37A4 SLC39A7 SLC6A14 SLC7A7 SLC9A3 SMARCD2 SPAG1 SPEF2 SRP19 SRP54 STAT1 STAT3 STIM1 STK36 STK4 STX1A TBCE TBX20 TCF4 TCIRG1 TGFB1 TLL1 TNFRSF13B TNFRSF13C TTC12 TYK2 UBE2A UNG UROD UROS WAS ZAP70 ZMYND10 HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS ADAM17 BTK CARMIL2 CTSC CYBA CYBB DOCK8 EGFR EPHB4 GATA1 GJB2 GJB6 IL10RA IL17RA IL2RG LAMA3 LAMB3 LAMC2 LCP2 LYST MYD88 NCF1 NCF2 OTULIN PSEN1 PSENEN UBE2A UROD UROS ZAP70 HP_RECURRENT_BRONCHITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHITIS ATM CD19 CD79A CD79B CD81 CR2 DNAAF1 DNAI1 DNAJB13 DPP9 EGFR FCHO1 GAS8 GNPTAB ICOS IL10RB IL17RA IL2RG IRF2BP2 MAGT1 MGP MS4A1 NBN NFKB1 NFKB2 PRKCD RFX7 RPGR SMARCA2 TAFAZZIN TAP1 TAP2 TAPBP TNFRSF13B TNFRSF13C TNFSF12 USP26 HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS AARS1 CARS1 CFTR ERCC2 ERCC3 FCGR2A GTF2E2 GTF2H5 LAMTOR2 MPLKIP RNF113A TARS1 TGFB1 USB1 VPS33A HP_RECURRENT_CANDIDA_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CANDIDA_INFECTIONS BTD CD247 CD3D CD3E CIITA CTLA4 DOCK8 GJB2 GJB6 IL12RB1 IL7R RFX5 RFXANK RFXAP SLC39A4 ZAP70 ZBTB24 HP_RECURRENT_CORNEAL_EROSIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CORNEAL_EROSIONS CHST6 COL17A1 CTNS ELP1 FGF10 FGFR2 FGFR3 FOXC2 GJB2 KRT3 MBTPS2 MPV17 NTRK1 TGFBI HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION BTK CARMIL2 CTSC GJB2 GJB6 LCP2 PSEN1 PSENEN UBE2A HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS ADA AIRE AP3B1 ATRX BRAF CARD9 CARMIL2 CD247 CD3D CD3E CD3G CD40LG CDH23 CIITA CLEC7A CORO1A DCLRE1C DOCK2 EPG5 GJB2 GJB6 IKBKB IKBKG IL17F IL17RA IL17RC IL2RA IL2RG IL6ST IL7R ITGB2 JAK3 KNSTRN LCK MVK NFKBIA NR3C1 PGM3 PIK3CD RFX5 RFXANK RFXAP RORC SP110 SREBF1 STAT1 STAT3 STK4 TFRC TLR8 TOM1 TP53 TRAC TRAF3IP2 USP48 USP8 WDR1 ZAP70 ZNF341 HP_RECURRENT_EAR_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_EAR_INFECTIONS ALG12 CLPB DDOST ELANE FHL1 FOXP2 GFI1 IDS KNSTRN LEP MBD5 ODC1 PIK3CD SP110 SPTBN1 SRP19 SRP54 TCEAL1 TCIRG1 UBE2A HP_RECURRENT_ENTEROVIRAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ENTEROVIRAL_INFECTIONS BTK IGHM RAG1 RAG2 SP110 HP_RECURRENT_FEVER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FEVER ADA ADA2 ALPK1 ASAH1 ATP5F1B BCAP31 C2orf69 C3 CD70 CEBPE COG6 COG7 CRLF1 CYP11B2 CYP21A2 DEF6 DNASE2 DOCK2 DPP9 ELANE ELF4 ELP1 FOCAD GALC GCH1 H4C5 HBB HEPHL1 HNRNPK IBA57 IFIH1 IL2RG IL6ST ITK LACC1 LIFR LPIN2 MEFV MVK NAXD NGF NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NTRK1 ORAI1 OTULIN PEX6 PMP22 PRF1 PRKCD PSMB4 PSMB8 PSMB9 PSMG2 PTS QDPR RBCK1 REL RIPK1 RNF168 RNU4ATAC SH2D1A SH3KBP1 SLC12A3 SLC29A3 SLC35C1 SLC41A1 SPTBN1 STAT2 STIM1 STING1 STK4 STX11 STXBP2 SYK TLR7 TNFAIP3 TNFRSF1A TRNT1 UBA1 WDR1 XIAP ZFHX2 ZNFX1 HP_RECURRENT_FRACTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FRACTURES ALPL ANO5 ANOS1 ANTXR2 ATP7A B3GALT6 B3GAT3 B4GALT7 BMP1 CA2 CASR CBS CCDC134 CCDC141 CHD7 CHST3 CLCN5 CLCN7 CLTCL1 COL1A1 COL1A2 COPB2 CREB3L1 CRTAP CTC1 CTNND2 CYP27B1 CYP2R1 DCC DKC1 DKK1 DUSP6 ELP1 FEZF1 FGF17 FGF8 FGFR1 FKBP10 FLRT3 FOXE1 FZD4 GLE1 GNAS GORAB HABP2 HESX1 HRAS HS6ST1 IDH1 IDH2 IFITM5 IL17RD IL6ST IRX5 KDELR2 KRAS LBR LIFR LRP5 MBTPS2 MINPP1 MOGS MTAP MYH3 NDNF NFIX NGF NHP2 NOP10 NOTCH2 NPM1 NRAS OCRL P3H1 P4HB PARN PDGFRB PLEKHM1 PLOD2 POT1 PPIB PRDM5 PROK2 PROKR2 PTEN PYCR1 RRM2B RTEL1 RUNX2 SEC24D SEMA3A SEMA5A SGMS2 SLC29A3 SLC34A1 SLC34A3 SLC7A7 SMS SNX10 SOX10 SOX9 SP7 SPARC SPRY4 SQSTM1 STAT3 TACR3 TAPT1 TBCD TCIRG1 TENT5A TERC TERT TINF2 TMEM38B TNFRSF11A TNFRSF11B TNFSF11 TRIP11 TRPV6 TYMS UNC45A USB1 VCP VDR WDR11 WNT1 WNT3A WRAP53 YY1AP1 ZNF687 HP_RECURRENT_GASTROENTERITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GASTROENTERITIS ADAM17 ADAT3 BLM CD3E CD3G DCLRE1C EGFR FOXP3 IRF9 MAN2B1 SLC35C1 SP110 VPS33A HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS C5 C6 C7 C8B CEACAM3 CEACAM6 CFB CFI CFTR CLCA4 CYBA CYBB DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 IL12RB1 IL2RG ITGB2 KCNN4 MBL2 MIF NCF1 NCF2 RPGR SCNN1A SCNN1B SCNN1G SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS CEACAM3 CEACAM6 CFI CFTR CLCA4 DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 IL2RG KCNN4 MIF RPGR SCNN1A SCNN1B SCNN1G SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1 HP_RECURRENT_HAND_FLAPPING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAND_FLAPPING AFF2 ASXL3 BCL11A CCNK CDK19 CHD8 CIC CSNK2A1 CUX2 DHPS FMR1 GABBR2 GRIK2 HECW2 HERC2 HNRNPH2 KMT5B MBD5 NAA20 NEXMIF NOVA2 OCA2 PDZD8 PRKAR1B SYNGAP1 TRAPPC6B TRAPPC9 UBE3A HP_RECURRENT_HYPOGLYCEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HYPOGLYCEMIA ACSL5 ALG12 BCS1L GCK HMGCL INSR KCNJ11 MC2R MEN1 MPV17 MRAP NAB2 NFKB2 PAK1 PHKB PPP1R15B ROBO1 SLC22A5 STAT6 UCP2 YY1 HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT ADAM17 ADAT3 AICDA BLM CARMIL2 CD3E CD3G CIITA CLPB COG4 CORIN DCLRE1C EGFR ELANE FLT1 FOXP3 GFI1 IFNGR1 IL21R IRF9 JAK3 MAN2B1 NBN NFKB2 NFKBIA RFX5 RFXANK RFXAP SH3KBP1 SLC35C1 SP110 SPINK5 SRP19 SRP54 STOX1 TCIRG1 TNFRSF13B VPS33A ZAP70 HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE COL3A1 CTLA4 HLA-DPA1 HLA-DPB1 PRTN3 PTPN22 WAS WIPF1 HP_RECURRENT_JOINT_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_JOINT_DISLOCATION BPNT2 CHST14 COL1A1 COL1A2 COL5A2 DSE IPO8 LMNA MAB21L2 PIEZO2 PRKACB RYR1 HP_RECURRENT_KLEBSIELLA_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_KLEBSIELLA_INFECTIONS CYBA CYBB IL12RB1 MBL2 NCF1 NCF2 HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS AASS ADA AGR2 AICDA ALB ALG12 ALMS1 AP3B1 ARHGEF1 ARPC1B ATM B3GALT6 BLNK BTK C1QB C3 C4B CARD10 CARMIL2 CAVIN1 CCDC39 CCDC40 CD19 CD247 CD27 CD3D CD3E CD40LG CD55 CD79A CD79B CEACAM3 CEACAM6 CFAP410 CFTR CIITA CLCA4 CLPB COL11A2 COL13A1 COL5A1 COL6A1 COL6A2 COL6A3 COLQ CORO1A CR2 CTCF CTLA4 CXCR4 CYBA CYBB CYBC1 DCLRE1C DCTN4 DDR2 DIP2B DNAAF4 DNAH11 DOCK2 DOCK8 DRC1 DZIP1L EDNRA EFEMP2 EGFR ERCC6 EXTL3 FBLN5 FBXW7 FCGR2A FCHO1 FCN3 FMO3 FOXJ1 FUT8 G6PC3 GALNS GAS8 GCLC GEMIN4 GLI3 GNPTAB GORAB GSTM3 HFE HMOX1 HYDIN HYOU1 ICOS IDH1 IDS IFIH1 IGBP1 IGHG2 IGHM IGKC IGLL1 IL21R IL2RG IL6ST IL7R JAK3 KCNJ6 KCNN4 KPTN LAMA2 LAMB2 LAT LCK LEP LIG1 LMNB1 LRBA LRRC56 LTBP1 LTBP4 MALT1 MASP2 MDFIC MED25 MEGF10 MGAT2 MIF MTHFD1 MYSM1 NBN NCF1 NCF2 NDUFC2 NFE2L2 NFKB1 NFKB2 NKX2-1 NME5 NUP214 ODAD1 ODAD2 ODAD4 OFD1 ORC6 P4HTM PEPD PGM3 PIK3CD PIK3R1 PKHD1 PKP1 PLOD1 PNP POLA1 POLE PRKCD PRKDC PTEN PURA PYROXD1 RAC1 RAC2 RAG1 RAG2 RASGRP1 RELB RFT1 RFX5 RFX7 RFXANK RFXAP RNF125 RNF168 RNU4ATAC SASH3 SATB1 SCNN1A SCNN1B SCNN1G SERPINA1 SERPINH1 SETBP1 SFTPC SIAH1 SLC11A1 SLC26A9 SLC35C1 SLC6A14 SLC9A3 SMARCA2 SMARCD2 SOX9 SREBF1 STAT3 STK36 STK4 STX1A STX3 TBCD TBX1 TCF3 TGFB1 TK2 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF9 TONSL TPP2 TRIM37 TTC26 UNC119 UNG USB1 USP26 USP9X VARS1 VPS33A WAS WDR1 WDR19 WDR35 ZAP70 ZBTB7A ZNF341 ZNF668 ZNFX1 HP_RECURRENT_MENINGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MENINGITIS C1QC CFI IL2RG MYD88 WAS HP_RECURRENT_MYCOBACTERIAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CYBB DCLRE1C DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GATA2 HYDIN IFNGR1 IFNGR2 IKBKG IL12RB1 ISG15 LRRC56 MCIDAS NEK10 NFKBIA NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STAT1 STK36 TTC12 TYK2 ZAP70 ZMYND10 HP_RECURRENT_MYOGLOBINURIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYOGLOBINURIA COQ2 HADHB LPIN1 MT-CO1 MT-CO3 OBSCN PYGM HP_RECURRENT_NEISSERIAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_NEISSERIAL_INFECTIONS C5 C6 C7 C8B CFB CFI MBL2 HP_RECURRENT_OPPORTUNISTIC_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OPPORTUNISTIC_INFECTIONS ADA DCLRE1C IL2RG IL7R JAK3 NHP2 PNP RAG1 RAG2 ZAP70 HP_RECURRENT_OTITIS_MEDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OTITIS_MEDIA A2ML1 ACP5 ADA ADA2 ADAT3 AGR2 ANAPC1 AP3B1 ARHGAP29 ARHGEF38 ATN1 BAP1 BCOR BLNK BMP4 BPTF BTK C1QB C4B CCDC103 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CD19 CD3D CD3E CD3G CD4 CD79A CD79B CDC42BPB CDH1 CFAP221 CFAP298 CFAP300 CFAP52 CFAP74 CFI COBLL1 COL11A1 COL2A1 CORO1A CR2 DDB1 DHCR7 DLG1 DLK1 DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DOCK2 DOCK8 DPF2 DPP9 DRC1 ELN FCGR3A FGFR3 FLNA FMR1 FOCAD FOXJ1 FOXP1 FZD2 GAS2L2 GAS8 GLRA2 GNB2 GNPTAB GNS GRHL3 GUSB H4C3 H4C5 HEPHL1 HYAL1 HYDIN ICOS IDS IDUA IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IL17RA IL21R IL2RB IL6R IL6ST IL7R IRF6 JAGN1 JAK3 KANSL1 KAT6A KDM6A KIF15 KMT2A KMT2D KMT5B LBR LIG1 LRBA LRRC56 MAGT1 MAP3K7 MAPK1 MCIDAS MED12 MEG3 MGP MLXIPL MNS1 MSX1 NAA10 NBN NCKAP1L NECTIN1 NEK10 NFKB2 NFKBIA NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PCYT1A PDGFRA PGM1 PHIP PIK3CD PIK3CG PIK3R1 PLCG2 POLR3A PRKAR1B PRKCD PSMB8 PSMD12 PTEN RAC1 RAC2 RELB RIC1 RNF2 RNU4ATAC RPGR RPL11 RSPH1 RSPH3 RSPH4A RSPH9 RTL1 SDCCAG8 SETD2 SH3KBP1 SLC35C1 SLC37A4 SMARCD2 SMG9 SPAG1 SPEF2 SRCAP SRY STK36 SYK TAOK1 TBX1 TCF3 TFE3 TLR8 TMCO1 TNFRSF13B TNFRSF13C TNRC6B TP63 TPP2 TRAC TTC12 UBB UNC119 USB1 USP26 WAS WDR26 ZEB2 ZMYND10 ZNF341 HP_RECURRENT_PANCREATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PANCREATITIS CASR CAV1 CCDC47 CDC73 CFTR CPA1 CTRC GCGR GPIHBP1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW PRSS1 PRSS2 SPINK1 HP_RECURRENT_PAROXYSMAL_HEADACHE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PAROXYSMAL_HEADACHE DKK1 DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL HP_RECURRENT_PATELLAR_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PATELLAR_DISLOCATION BPNT2 MAB21L2 PIEZO2 PRKACB RYR1 HP_RECURRENT_PHARYNGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PHARYNGITIS ALG12 HLA-B HLA-DRB1 NFKB2 P4HA2 PTPN22 SH2D1A SLC29A3 TNFRSF1A XIAP HP_RECURRENT_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PNEUMONIA AASS ADA ALG12 ALMS1 AP3B1 ARPC1B B3GALT6 BLNK BTK C3 C4B CARMIL2 CAVIN1 CCDC39 CCDC40 CD19 CD247 CD27 CD3D CD3E CD79B CFAP410 CFTR CLPB COL11A2 CR2 CXCR4 CYBA CYBB CYBC1 DDR2 DNAAF4 DNAH11 DOCK2 DOCK8 DRC1 DZIP1L EFEMP2 EGFR ERCC6 EXTL3 FBLN5 FBXW7 FCGR2A FCHO1 FMO3 GALNS GAS8 GNPTAB HYDIN ICOS IDH1 IDS IFIH1 IGBP1 IGHG2 IGHM IGKC IGLL1 IL21R IL2RG IL6ST JAK3 KCNJ6 KPTN LAT LEP LMNB1 LRBA LTBP1 LTBP4 MASP2 MED25 MEGF10 MTHFD1 NBN NCF1 NCF2 NFKB1 NFKB2 NKX2-1 NME5 ODAD1 ODAD2 ODAD4 ORC6 P4HTM PEPD PGM3 PIK3CD PKHD1 PKP1 PLOD1 POLA1 PURA RAC1 RAC2 RELB RFX7 RNF125 RNF168 RNU4ATAC SERPINH1 SETBP1 SFTPC SIAH1 SLC35C1 SMARCA2 SMARCD2 SREBF1 STAT3 STK36 STK4 TBCD TBX1 TCF3 TGFB1 TK2 TNFRSF11A TNFRSF13B TNFRSF13C TONSL UNC119 USB1 USP26 VPS33A WAS WDR1 WDR19 WDR35 ZBTB7A ZNF341 ZNFX1 HP_RECURRENT_PROTOZOAN_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PROTOZOAN_INFECTIONS CIITA IL12RB1 RFX5 RFXANK RFXAP HP_RECURRENT_RESPIRATORY_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_RESPIRATORY_INFECTIONS AARS1 AASS ABCA12 ACP5 ACTA1 ADA ADA2 ADAMTS3 ADNP AGA AGR2 AGRN AICDA AK2 ALB ALDH18A1 ALG12 ALMS1 ALOX12B ALOXE3 ALPL AP3B1 AP3D1 ARHGEF1 ARID1A ARID1B ARID2 ARPC1B ARSB ARSL ASAH1 ASPRV1 ASXL1 ATM ATP6V0A2 B2M B3GALT6 BACH2 BAZ1B BCL10 BCL7B BCR BIRC3 BLM BLNK BTK BUD23 C1QB C3 C4B CACNA1B CARD10 CARD11 CARMIL2 CARS1 CASP8 CAVIN1 CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCNO CD19 CD247 CD27 CD3D CD3E CD3G CD4 CD40LG CD55 CD79A CD79B CD81 CD8A CDCA7 CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP410 CFAP74 CFI CFTR CHAMP1 CHAT CHRM3 CIITA CLCA4 CLCN7 CLEC7A CLIP2 CLPB COG4 COG6 COL11A2 COL13A1 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ CORO1A CPLX1 CR2 CREBBP CRKL CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNBL1 CTSC CXCR4 CYBA CYBB CYBC1 CYP4F22 DCLRE1C DCTN4 DDR2 DDX59 DIP2B DKC1 DLL3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC30 DNAL1 DNMT3B DOCK2 DOCK8 DPF2 DPM2 DPP9 DPYSL5 DRC1 DSG1 DYM DYNC2I2 DZIP1L ECM1 EDARADD EDNRA EFEMP2 EGFR EHMT1 EIF4H ELANE ELF4 ELN ELP1 EP300 EPG5 ERCC2 ERCC3 ERCC6 ERF EXOSC9 EXTL3 FAT4 FBLN5 FBXO28 FBXW7 FCGR2A FCGR3A FCHO1 FCN3 FCSK FKBP6 FLI1 FLNA FLNC FMO3 FOXJ1 FOXN1 FOXP1 FOXP2 FOXP3 FUCA1 FUT8 G6PC3 GAA GALNS GAS2L2 GAS8 GATA2 GBA1 GCLC GEMIN4 GFI1 GFM2 GLB1 GLI3 GLUL GMNN GNPTAB GNS GORAB GRIA1 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C3 H4C5 HACD1 HCK HELLS HERC2 HFE HGSNAT HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 HPS6 HYDIN HYOU1 ICOS IDH1 IDS IDUA IER3IP1 IFIH1 IFT122 IFT140 IGBP1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL10RB IL17F IL17RA IL17RC IL21 IL21R IL2RA IL2RB IL2RG IL6R IL6ST IL7R INPPL1 IRAK4 IRF2BP2 IRF8 ITCH ITGA3 ITGA7 IVNS1ABP JAGN1 JAK3 KANSL1 KAT6A KAT6B KATNIP KCNJ6 KCNN4 KDM5C KIAA0586 KIF1A KIF20A KMT2D KPTN KRAS KRT5 LAMA2 LAMB2 LAMTOR2 LAT LCK LEP LEPR LETM1 LIG1 LIG4 LIMK1 LIPN LMNB1 LRBA LRRC56 LRRC8A LTBP1 LTBP4 LYST MAGEL2 MAGT1 MALT1 MANBA MAP3K20 MAPK1 MASP2 MBTPS2 MCIDAS MCM4 MDFIC MDM4 MECP2 MED25 MEGF10 MESP2 METTL27 MGAT2 MGP MIF MIR140 MKRN3 MLXIPL MPLKIP MS4A1 MSN MTHFD1 MTM1 MYH3 MYL2 MYL9 MYO5A MYO9A MYPN MYSM1 NAE1 NAGLU NBN NCF1 NCF2 NCF4 NDN NDUFC2 NECTIN1 NEK10 NELFA NEPRO NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NGLY1 NHLRC2 NHP2 NIPAL4 NKX2-1 NME5 NME8 NOP10 NOTCH2 NPAP1 NPM1 NRAS NSD2 NUP214 NXN OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORC6 P4HA2 P4HTM PAK2 PARN PCGF2 PCNT PEPD PET117 PEX5 PGM3 PHIP PIGG PIK3CD PIK3CG PIK3R1 PKHD1 PKP1 PLCG2 PLEC PLG PLOD1 PLP1 PLVAP PNP POLA1 POLE POLR2A POLR3A PPP1R21 PRKCD PRKDC PRPS1 PRTN3 PSAP PSMB8 PTEN PTPN22 PURA PWAR1 PWRN1 PYROXD1 RAB3GAP2 RAC1 RAC2 RAG1 RAG2 RASGRP1 REEP1 RELB RFC2 RFT1 RFX5 RFX7 RFXANK RFXAP RIPK1 RNF113A RNF125 RNF168 RNU4ATAC ROR2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RUNX2 RYR1 SAMD9L SASH3 SATB1 SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDCCAG8 SDR9C7 SELENON SERPINA1 SERPINH1 SETBP1 SFTPC SGSH SH2D1A SH3KBP1 SHROOM4 SIAH1 SIK1 SIM1 SLC11A1 SLC18A3 SLC1A4 SLC25A1 SLC25A22 SLC26A2 SLC26A9 SLC29A3 SLC35C1 SLC37A4 SLC39A7 SLC41A1 SLC46A1 SLC52A3 SLC5A7 SLC6A14 SLC9A3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMN1 SMPD1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SNX10 SOCS1 SOX11 SOX4 SOX9 SP110 SPAG1 SPEF2 SPI1 SPINK5 SPTBN4 SREBF1 SRP19 SRP54 STAT1 STAT3 STING1 STK36 STK4 STX1A STX3 STXBP2 SUCLG1 SULT2B1 SYT2 TAFAZZIN TAOK1 TAP1 TAP2 TAPBP TARS1 TASP1 TBC1D23 TBC1D24 TBCD TBCE TBL2 TBX1 TBX6 TCEAL1 TCF3 TCIRG1 TCTN3 TECPR2 TERC TERT TET2 TFRC TGFB1 TGM1 TIMMDC1 TINF2 TK2 TLL1 TMCO1 TMEM270 TMEM94 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF11 TNFSF12 TNNI3 TNNT2 TOM1 TONSL TP73 TPM2 TPM3 TPP2 TRAC TRAF3IP2 TRAIP TRIM37 TRIP11 TRIP4 TRPS1 TSC1 TSC2 TTC12 TTC26 TTC7A TYK2 TYMS UBA2 UBE2A UFC1 UGP2 UMPS UNC119 UNG UQCRH USB1 USP26 USP9X VAMP1 VARS1 VPS33A VPS35L VPS37D VPS51 WAC WAS WASHC5 WDR1 WDR19 WDR35 WIPF1 WRAP53 XIAP ZAP70 ZBTB24 ZBTB7A ZMYND10 ZNF341 ZNF668 ZNFX1 ZNHIT3 HP_RECURRENT_SINOPULMONARY_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINOPULMONARY_INFECTIONS ATP6V0A2 BACH2 CASP8 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFTR CLPB CTNNBL1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DOCK8 DRC1 ELANE FOXJ1 GAS2L2 GAS8 GFI1 HYDIN LRRC56 MCIDAS NBN NEK10 NFKB1 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PIK3CD PIK3CG PLCG2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 SRP19 SRP54 STAT3 STK36 TCIRG1 TFRC TNFRSF13B TTC12 ZMYND10 HP_RECURRENT_SINUSITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINUSITIS ACP5 ADA2 ALMS1 BTK C4B CCDC65 CD19 CFAP298 CFAP74 CFI COL5A1 COL5A2 CR2 DNAAF1 DNAAF11 DNAAF2 DNAAF4 DNAAF5 DNAAF6 DNAH5 DNAI2 DNAJB13 DOCK8 FCGR3A GAS2L2 HYDIN ICOS IGHM IKBKB IKBKG IL17RA IL21R IRF2BP2 IVNS1ABP LRBA MAGT1 MCIDAS MDM4 MGP NCF4 NEK10 NFKB1 NFKB2 NFKBIA NME5 NME8 ODAD1 ODAD2 PIK3CD PRKCD PSMB8 RAC2 RNF168 RSPH1 RSPH4A SASH3 SH3KBP1 SPAG1 SPI1 STK36 STK4 STXBP2 TBX1 TMCO1 TNFRSF13B TNFRSF13C TNFRSF9 UNC119 USB1 WAS ZMYND10 ZNF341 HP_RECURRENT_SKIN_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SKIN_INFECTIONS ADA ADAM17 AIRE AP3B1 ATRX BLNK BLOC1S6 BRAF BTD BTK CARD9 CARMIL2 CD247 CD3D CD3E CD3G CD40LG CD79A CD79B CDH23 CFI CHST14 CIB1 CIITA CLEC7A CLPB COL7A1 CORO1A CTSC CYBA CYBB DCLRE1C DOCK2 DOCK8 DSE DSG1 EGFR ELANE EPG5 EPHB4 FERMT1 FERMT3 FOXC2 FOXP1 FOXP3 GATA1 GFI1 GINS1 GJB2 GJB6 GJC2 HYOU1 IGHM IGLL1 IKBKB IKBKG IL10RA IL17F IL17RA IL17RC IL2RA IL2RG IL6R IL6ST IL7 IL7R ITGA6 ITGB2 ITGB4 JAK3 KNSTRN KRT1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LCK LCP2 LRRC8A LYST MBL2 MBTPS2 MMP1 MRTFA MVK MYD88 NAE1 NCF1 NCF2 NFE2L2 NFKB1 NFKBIA NR3C1 OTULIN PGM3 PIK3CD PIK3CG PIK3R1 PKP1 POLR3A PRDM12 PSEN1 PSENEN RFX5 RFXANK RFXAP RORC SASH3 SHANK3 SLC39A7 SP110 SPI1 SPINK5 SREBF1 SRP19 SRP54 STAT1 STAT3 STK4 SYK TCF3 TCIRG1 TFRC TLR8 TMC6 TMC8 TOM1 TP53 TRAC TRAF3IP2 UBE2A UROD UROS USP48 USP8 WDR1 XIAP ZAP70 ZNF341 HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS CEACAM3 CEACAM6 CFTR CIITA CLCA4 CYBA CYBB DCTN4 EDNRA FCN3 GCLC GSTM3 HFE HMOX1 IL17RA IRAK4 ITGB2 KCNN4 LYST MIF NCF1 NCF2 NTRK1 PGM3 RFX5 RFXANK RFXAP SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STAT3 STX1A TGFB1 HP_RECURRENT_STREPTOCOCCAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STREPTOCOCCAL_INFECTIONS CFI IGHG2 IGKC IRAK4 LYST HP_RECURRENT_SYSTEMIC_PYOGENIC_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SYSTEMIC_PYOGENIC_INFECTIONS GPR35 LYST MST1 SEMA4D TCF4 HP_RECURRENT_THROMBOPHLEBITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_THROMBOPHLEBITIS F13A1 F2 HABP2 MTHFR SERPINC1 TGFB2 HP_RECURRENT_TONSILLITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_TONSILLITIS BLM C3 CYBC1 ELANE IGHG2 IGKC MPEG1 MYO5A PIK3CD PIK3R1 PTEN RIPK1 SCNN1A SCNN1B SCNN1G HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS AICDA DCLRE1C GLI3 MDFIC MGAT2 PIK3CD PIK3R1 PTEN RAG1 RAG2 SCNN1A SCNN1B SCNN1G UNG USP9X ZAP70 HP_RECURRENT_URINARY_TRACT_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_URINARY_TRACT_INFECTIONS ADNP AGXT ALG5 ALG9 ALMS1 APRT ARL3 ATP7A ATRX BAZ1B BCL7B BCR BICC1 BLM BNC2 BRCA1 BRCA2 BRIP1 BTK BUD23 CDC42BPB CFI CHRM3 CHRNA3 CIITA CISD2 CLDN16 CLDN19 CLEC7A CLIP2 CR2 CREBBP CRKL DNAJB11 DNAJC30 DYRK1A DZIP1L EFEMP2 EIF4H ELN EN1 EP300 ERCC4 EXT1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FBLN5 FKBP6 FLVCR1 FOCAD FOXC2 G6PC3 GANAB GRHPR GTF2I GTF2IRD1 GTF2IRD2 HLA-B HOXA13 HPSE2 HSPA9 IFT140 IGHG2 IGKC IL17F IL17RA IL17RC IL2RB ISL1 KANSL1 KAT5 KAT6A KCTD1 KNSTRN LAMA3 LAMB3 LAMC2 LIMK1 LMNB1 LRIG2 LTBP1 MAD2L2 MAN2B1 MAPK1 MC2R MED12 METTL27 MINPP1 MLXIPL MNX1 MRAP MSN MYL9 NAE1 NBN NCF1 NNT PALB2 PEPD PIK3CD PIK3CG PKD1 PKD2 PKHD1 PNP POLR3A POLR3GL PRKCD PRMT7 RAD21 RAD51 RAD51C RELB RFC2 RFWD3 RFX5 RFXANK RFXAP RNU7-1 SAMD9 SATB1 SHANK3 SLC35C1 SLC3A1 SLC46A1 SLC5A2 SLC7A9 SLX4 SMARCA2 SOX17 STAR STX1A TBL2 THOC6 TMEM270 TNXB TP63 TRAF3IP2 TRAIP TRPS1 TXNRD2 UBE2T VPS37D WASF1 WFS1 XRCC2 ZNF699 HP_RECURRENT_VIRAL_INFECTIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_VIRAL_INFECTIONS ADA ARHGEF1 BTD BTK CD8A CIITA CLPB CTPS1 DCLRE1C DEF6 DNAJC21 DOCK8 EFL1 ELANE EPG5 FCGR3A FLI1 GATA2 GFI1 IFIH1 IGHM IKZF1 IL2RA IL2RG IL7R IRF9 ISG15 JAK1 JAK3 KNSTRN MAGT1 MALT1 MCM4 NFKB2 NHEJ1 PGM3 PIK3CD PNP POMP RAG1 RAG2 RALGAPA1 RFX5 RFXANK RFXAP RMRP RNF168 SBDS SH3KBP1 SP110 SRP19 SRP54 STAT1 STK4 TCIRG1 TYK2 ZAP70 HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE CABP4 CACNA1F CACNA2D4 CFAP418 GNAT1 GNB3 GPR179 GRK1 GRM6 LRIT3 NYX PDE6B RHO SAG SLC24A1 TRPM1 HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION CARD11 CTPS1 DOCK2 LCP2 NSMCE3 PGM3 RAG1 RAG2 HP_REDUCED_ANTITHROMBIN_III_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY AHCY ALG12 ALG6 ALG8 B4GALT1 DPAGT1 DPM1 DPM2 MGAT2 MPI PGM1 PMM2 SERPINC1 SLC37A4 SRD5A3 HP_REDUCED_ATTENTION_REGULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ATTENTION_REGULATION AARS1 AASS ABCD1 ACTL6B ADGRL1 ADH5 ADNP AGO1 AGO2 AHCY ALDH4A1 ALKBH8 ANAPC1 ANKRD11 ANKRD17 AP2M1 AP3B2 APC2 ARID2 ARPC4 ARSA ARV1 ARVCF ASPM ATP10A ATP13A2 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A ATP9A AUH AUTS2 BAP1 BAZ1B BCL7B BCORL1 BCR BMPR1A BRD4 BUD23 C12orf4 CABP4 CACNA1A CACNA1B CACNA1C CACNA1H CACNA2D1 CAMTA1 CARS1 CBL CC2D1A CDC42BPB CDH11 CDH2 CDK19 CDK8 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CELF2 CHD2 CHD3 CHD5 CHD7 CHD8 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIC CLIP2 CLTC CNKSR2 CNTNAP2 COMT COQ5 CORO1A CRBN CREBBP CRH CRKL CSGALNACT1 CSNK2A1 CYFIP2 CYP27A1 DALRD3 DCDC2 DDB1 DEAF1 DEPDC5 DHCR7 DHDDS DHTKD1 DISP1 DLG3 DLL1 DMPK DNAJC12 DNAJC21 DNAJC30 DNAJC6 DNM1 DPH1 DPH2 DRD4 DRD5 DYM DYNC1I2 DYRK1A EEF1A2 EFL1 EIF2AK1 EIF4H ELN EMC10 EP300 EPCAM ERF FAN1 FANCD2 FANCL FBXO11 FBXO28 FGD1 FGF12 FGF13 FGF8 FGFR1 FGFR3 FKBP6 FLG FLI1 FLII FMR1 FOCAD FOXG1 FOXH1 FOXP1 FOXP2 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALT GAS1 GATA4 GLI2 GLRX5 GLUD1 GNAQ GNB1 GNB5 GNE GP1BB GRIA1 GRIA4 GRIK2 GRIN2A GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HDAC4 HDAC8 HDC HEPACAM HERC2 HIRA HMGA2 HNRNPH2 HNRNPK HNRNPR HOXA2 HSPG2 HTRA2 IDS IFNG IGF1 IGF2 IKBKG IQSEC1 IQSEC2 JARID2 JMJD1C JRK KANSL1 KAT5 KAT8 KCNA2 KCNA4 KCNB1 KCNN2 KCNT1 KDM3B KDM4B KIF11 KIF14 KMT2A KMT2B KMT5B KPNA3 KRAS LGI3 LHCGR LIG4 LIMK1 LMAN2L LRRK2 MADD MAGEL2 MAN2B1 MAP1B MAPK1 MBD5 MCTP2 MED12 MED12L MED13 MEN1 METTL27 METTL5 MID1 MKRN3 MLH1 MLH3 MLXIPL MSH2 MSH6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NAA15 NAT8L NBEA NBN NCF1 NDP NECAP1 NEXMIF NF1 NFIA NFIB NIPA1 NIPA2 NIPBL NKAP NKX2-1 NLGN1 NODAL NOP56 NPAP1 NR2F1 NSD1 NSUN2 NTRK1 NTRK2 NUS1 OCA2 OCRL ODC1 OPHN1 PACS2 PAH PAK3 PANK2 PARK7 PARS2 PCDH19 PCGF2 PCNT PDGFRB PDZD8 PHF21A PHIP PIDD1 PIEZO2 PIK3CA PINK1 PLA2G6 PLAG1 PLCH1 PMS1 PMS2 PNKP PODXL POLA1 POLG PPM1D PPP1R12A PPP1R21 PPP2CA PPP3CA PRKAR1B PRKCG PRKD1 PRKN PRMT7 PRNP PRR12 PSAP PSMB1 PTCH1 PTCHD1 PTEN PURA PUS7 PWAR1 PWRN1 RAD21 RAI1 RERE RFC2 RFX7 RIC1 RPS20 RREB1 RSRC1 SATB1 SATB2 SBDS SCAPER SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEC24C SECISBP2 SEMA3E SEMA4A SETBP1 SETD1A SETD2 SETD5 SH2B1 SH3KBP1 SHH SHMT2 SHOC2 SIM1 SIN3A SIN3B SIX3 SLC13A5 SLC1A2 SLC25A36 SLC2A1 SLC38A3 SLC6A1 SLC6A19 SLC6A8 SLC7A6OS SLC9A7 SLF2 SLITRK1 SMARCA2 SMC1A SMC3 SMC5 SMPD1 SNCA SNORD115-1 SNORD116-1 SNRPN SOBP SOX5 SOX6 SPEN SPG11 SPG7 SPRED1 SPTBN1 SRCAP SRP54 SRPX2 STAG2 STEEP1 STIL STS STX1A SUCLG1 SUPT16H SYNE1 SYNGAP1 SYNJ1 SZT2 TAF1 TANC2 TAOK1 TBC1D23 TBL1X TBL2 TBX1 TBX2 TDGF1 TET3 TFE3 TGFBR2 TGIF1 THRB TIAM1 TIMM8A TKT TLK2 TMCO1 TMEM163 TMEM270 TMEM67 TNIK TNPO2 TNRC6B TPH2 TRAK1 TRAPPC14 TREX1 TRIO TSC1 TSC2 TSHB TUBA1A TUBB2B TUBB3 TUBG1 TWNK UBA5 UBE3A UBE4A UCHL1 UFD1 UPF3B USP7 VPS13A VPS13C VPS37D WAC WBP11 WWOX YME1L1 YWHAG YY1 ZBTB20 ZDHHC9 ZIC2 ZMIZ1 ZMYM2 ZNF292 HP_REDUCED_BLOOD_FOLATE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_BLOOD_FOLATE_CONCENTRATION HLA-DQA1 HLA-DQB1 OTUD5 SLC46A1 ZNF699 HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS ATAD3A CACNA1G CNP FBXO28 GALC GFM2 GRM7 NAT8L NDUFB7 NGLY1 PSAP SDHAF1 SDHD SLC25A12 TBCK HP_REDUCED_CEREBRAL_WHITE_MATTER_VOLUME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CEREBRAL_WHITE_MATTER_VOLUME ARF1 ASNS ASXL2 BCL11B BRPF1 CHMP1A CLP1 CRLS1 CTNNA2 DNM1 GABRG2 IREB2 KCNT2 KIF26A MTOR NANS NDUFA2 NDUFA6 NDUFA9 PCLO PIGL PPP3CA PYCR2 RAB11B SLITRK2 SPTAN1 TMEM147 TUBB2A UFC1 WARS1 WDR45B ZNF335 HP_REDUCED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION DSG1 GH1 MARS2 OTX2 POU1F1 PROP1 ROBO1 TMEM67 HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION AKT1 BAP1 DBH GNAS HESX1 IGSF1 LHX3 LHX4 NF2 PDGFB PIK3CA POU1F1 PROP1 RBM28 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TRHR HP_REDUCED_CONSCIOUSNESS_CONFUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CONSCIOUSNESS_CONFUSION AARS1 ABAT ABCA7 ABCC8 ABCD1 ABCD4 ACADM ACADS ACADSB ACADVL ACAT1 ADA2 ADAMTS13 ADORA2A AGR2 AGRN AK9 AKT1 AKT2 ALAD ALDH4A1 ALDOB ALG12 AMT APP ARSA ASH1L ASL ASPA ASS1 ATP13A2 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP7B ATPAF1 ATPAF2 AUH AVP BAP1 BCKDHA BCKDHB BMP6 BNC2 BOLA3 BRAF BTD C4A CA5A CACNA1A CASR CCR1 CDKN1A CDKN1B CDKN2B CDKN2C CDON CFH CFHR1 CFHR3 CHRNA1 CHRNA2 CHRNB1 CHRND CHRNE CLCNKB COA8 COL13A1 COL3A1 COX5A CPOX CPS1 CPT1A CPT2 CTNNB1 CTSF CTSH CUBN CYC1 CYP24A1 DBT DDC DHCR7 DISP1 DLD DLL1 DMPK DNMT1 DOK7 DPYD DPYS DUOX2 DUOXA2 EIF2B1 EIF2B5 EPM2A ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ETFA ETFB ETFDH FAS FBP1 FGF8 FGFR1 FIG4 FKRP FKTN FOXH1 FOXRED1 GABRB2 GALT GAS1 GATA1 GBA1 GCDH GCH1 GCK GFAP GJB1 GK GLDC GLI2 GLUD1 GLYCTK GNA11 GNAS GUF1 GYS2 HADH HADHA HADHB HAMP HCRT HEATR3 HESX1 HFE HIBCH HJV HLA-B HLA-DQB1 HLA-DRB1 HLCS HMBS HMGCL HMGCS2 HNF1A HNF4A HTT IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL18BP IL23R INS INSR IRAK1 IRF5 ISCA2 IVD IYD KCNE1 KCNJ11 KCNQ1 KIF1A KIF21A KLRC4 KRT18 KYNU LARGE1 LHX3 LHX4 LMBRD1 LNPK LONP1 LRP4 LYRM7 MAGEL2 MAN2B1 MC2R MCCC1 MCCC2 MEFV MEN1 MLX MMAA MMAB MMACHC MMADHC MMEL1 MMUT MOG MRAP MRPS16 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TT MT-TW MTHFR MTRR MUSK MYD88 MYOD1 NAA10 NAB2 NAGS NAXD NAXE NBAS NDE1 NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NF2 NFKB2 NFS1 NFU1 NHLRC1 NNT NODAL NOTCH2NLC NOTCH3 NUBPL NUP88 OTC P2RY11 PAX2 PAX8 PBX1 PCCA PCCB PDGFB PDHA1 PDX1 PEX2 PIGA PIGG PIK3CA PLA2G6 PLCH1 PLP1 POLG POLG2 POLR3A POLR3K POMT1 POMT2 POU1F1 POU2AF1 PPOX PRDM8 PRDX1 PRF1 PRNP PROP1 PRPS1 PRRT2 PSAP PSEN1 PSEN2 PTCH1 PTS RANBP2 RAPSN RARS2 RMND1 RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRM2B RYR1 SAT1 SCN1A SCN4A SCO2 SHH SHQ1 SIK1 SIM1 SIX3 SLC12A3 SLC13A3 SLC18A3 SLC19A2 SLC19A3 SLC1A2 SLC22A5 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A4 SLC2A1 SLC2A3 SLC31A1 SLC39A4 SLC4A1 SLC52A1 SLC5A5 SLC7A7 SMARCB1 SMARCE1 SMC1A SMO SNCA SNCB SORL1 SOX10 SPIB SPP1 SPR SQOR STAG2 STAR STAT3 STAT4 STAT6 STIL STX11 STXBP2 SUFU SUGCT TBC1D24 TBK1 TBP TCN2 TDGF1 TERT TFAM TG TGIF1 TH THRA TICAM1 TIMMDC1 TLR3 TLR4 TMEM126B TNFSF15 TNFSF4 TNPO3 TOMM40 TPO TRAF3 TRAF7 TRANK1 TREM2 TRHR TSHB TSHR TSPOAP1 TSR2 TTC19 TTC26 TTR TUBA1A TWNK TXNRD2 UBAC2 UCP2 UNC13D UNC93B1 UPB1 UQCRH USP18 YARS2 YY1 ZIC2 ZNF365 ZNHIT3 HP_REDUCED_C_PEPTIDE_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_C_PEPTIDE_LEVEL CNOT1 GCK INS KCNJ11 NAB2 PDX1 STAT6 HP_REDUCED_DELAYED_HYPERSENSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_DELAYED_HYPERSENSITIVITY CASP10 FAS FASLG NSMCE3 RAB27A HP_REDUCED_FACTOR_IX_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_IX_ACTIVITY F9 GGCX MGAT2 PMM2 SLC37A4 VKORC1 HP_REDUCED_FACTOR_VIII_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VIII_ACTIVITY F8 LMAN1 MCFD2 SOS1 VWF HP_REDUCED_FACTOR_VII_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VII_ACTIVITY AHCY F7 GGCX SLC37A4 VKORC1 HP_REDUCED_FACTOR_XIII_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XIII_ACTIVITY BRAF F13A1 F13B MAP2K1 PTPN11 SLC37A4 HP_REDUCED_FACTOR_XII_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XII_ACTIVITY BRAF F12 MAP2K1 MGAT2 PTPN11 SLC37A4 HP_REDUCED_FACTOR_XI_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XI_ACTIVITY ALG12 ALG2 ALG6 ALG8 F11 LZTR1 MGAT2 MPI NGLY1 PMM2 SLC37A4 SOS1 HP_REDUCED_FEV1_FVC_RATIO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FEV1_FVC_RATIO CFTR DNAH11 ENG HLA-DPB1 SCNN1A SCNN1B SCNN1G HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND CEACAM3 CEACAM6 CFTR CLCA4 CSF2RA DCTN4 DNAH9 EDNRA FCGR2A GCLC GSTM3 HES7 HFE HMOX1 ITCH KCNN4 MIF NEK10 PARN PIEZO2 RTEL1 SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STK36 STX1A TGFB1 HP_REDUCED_FORCED_VITAL_CAPACITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_VITAL_CAPACITY BAG3 CFTR COL6A2 CRPPA CSF2RA FCGR2A FKRP GGPS1 HES7 JAG2 LRP12 MCIDAS MEGF10 NEK10 PARN POGLUT1 RTEL1 SFTPC SLC25A21 STK36 SYT2 TGFB1 TNNC2 TNNT1 TPM3 TRIP4 UNC45B HP_REDUCED_HAPTOGLOBIN_LEVEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_HAPTOGLOBIN_LEVEL ABCG8 ALDOA CBLIF GATA1 KIF23 KLF1 PIGA PKLR RHAG RHCE RHD SLC2A1 UROS XK HP_REDUCED_HEMOLYTIC_COMPLEMENT_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_HEMOLYTIC_COMPLEMENT_ACTIVITY C1QB C4A C5 C6 SERPING1 HP_REDUCED_IMPULSE_CONTROL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_IMPULSE_CONTROL AARS1 AASS ABCA7 ABCC8 ABCD1 ACAT1 ACTL6B ACY1 ADA2 ADAT3 ADCY3 ADCY5 ADGRL1 ADH1B ADH1C ADH5 ADNP ADSL AFF2 AGO1 AGO2 AGPAT2 AGRN ALAD ALDH5A1 ALDH7A1 ALG14 ALKBH8 ALMS1 AMT ANAPC1 ANG ANK3 ANKRD11 ANKRD17 ANXA11 AP1G1 AP2M1 AP3B2 APC2 APP AQP2 ARG1 ARID1A ARID1B ARID2 ARNT2 ARPC4 ARV1 ARVCF ARX ASH1L ASPM ATP10A ATP1A1 ATP1A2 ATP1A3 ATP5F1B ATP6V0A1 ATP6V1A ATP9A ATR ATRX ATXN2 AUTS2 AVP AVPR2 BAP1 BAZ1B BBS9 BCAP31 BCL7B BCOR BCORL1 BCR BMPR1A BRAF BRAT1 BRD4 BSCL2 BSND BUD23 C12orf4 C19orf12 CABP4 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1H CACNA2D1 CAMTA1 CARS1 CASK CASR CASZ1 CC2D1A CCBE1 CCNF CDC42BPB CDC73 CDH11 CDH2 CDK13 CDK19 CDK8 CDKL5 CDKN1C CDON CELF2 CEP152 CFAP410 CHAMP1 CHAT CHCHD10 CHD2 CHD3 CHD5 CHD7 CHD8 CHKA CHMP2B CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIC CISD2 CLCN3 CLCN4 CLCNKB CLDN10 CLDN16 CLIP2 CLN5 CLN8 CLTC CNKSR2 CNTNAP2 COL13A1 COMT COQ5 CORO1A COX10 CRBN CREBBP CRH CRKL CSGALNACT1 CSNK2A1 CTNNB1 CTNS CUL3 CUL4B CUX2 CYFIP2 CYP11B1 CYP11B2 CYP27A1 DALRD3 DAO DCDC2 DCTN1 DCX DDB1 DDX3X DDX59 DEAF1 DENND5A DEPDC5 DHCR7 DHDDS DHPS DHTKD1 DISP1 DLG3 DLL1 DMPK DMXL2 DNAJC12 DNAJC13 DNAJC21 DNAJC30 DNAJC6 DNM1 DNM1L DNMT1 DPF2 DPH1 DPH2 DPP6 DPYD DPYSL5 DRD4 DRD5 DYM DYNC1I2 DYRK1A DZIP1L EBP ECE1 EEF1A2 EIF2AK1 EIF2S3 EIF4G1 EIF4H ELN ELP2 EP300 EPCAM EPHA4 ERBB4 EZH2 FAN1 FANCD2 FANCL FBXO11 FBXO28 FBXW11 FGD1 FGF12 FGF13 FGF8 FGFR1 FGFR3 FIG4 FIP1L1 FKBP6 FLCN FLG FLI1 FLII FMR1 FOXG1 FOXH1 FOXP1 FOXP2 FRMPD4 FTL FUS FUZ FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALC GALT GAMT GAS1 GATA4 GATAD2B GBA1 GIGYF2 GLDC GLE1 GLI2 GLRA2 GLS GLT8D1 GLUD1 GNAO1 GNAQ GNAS GNB1 GNB2 GNB5 GNE GNS GP1BB GPR101 GRB10 GRIA1 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C5 HAL HCN1 HDAC4 HDAC8 HDC HEPACAM HEPHL1 HERC2 HESX1 HGSNAT HIRA HIVEP2 HMBS HMGA2 HNF1A HNF1B HNF4A HNRNPA1 HNRNPH2 HNRNPK HNRNPR HOXA2 HPD HPSE2 HSD11B2 HSD17B10 HSPG2 HTR2A HTRA2 HTT HUWE1 IFNG IFT74 IGF1 IGF1R IGF2 IKBKG IL1RAPL1 IL6 INPP5E INSR IQSEC1 IQSEC2 IRF2BP2 IRF4 ITPR3 JARID2 JMJD1C JRK KANSL1 KAT5 KAT8 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNJ1 KCNJ10 KCNJ11 KCNJ5 KCNK9 KCNN2 KCNT1 KDM3B KDM4B KDM5C KDM6B KIF11 KIF14 KIF15 KL KMT2A KMT2B KMT5B KNL1 KPNA3 KRAS LARP7 LEMD3 LEP LEPR LGI1 LGI3 LHCGR LIG4 LIMK1 LMAN2L LNPK LRIG2 LRRK2 LSS LUZP1 LZTFL1 MADD MAGEL2 MAN1B1 MANBA MAOA MAP1B MAPK1 MAPK10 MAPT MATR3 MBD5 MC4R MCTP2 MECP2 MED12 MED12L MED13 MED13L MEIS2 MEN1 METTL27 METTL5 MICU1 MID2 MKRN3 MLH1 MLH3 MLXIPL MMP23B MN1 MSH2 MSH6 MTOR MYO9A MYT1L NAA15 NAA20 NABP1 NAGLU NAGS NAXE NBEA NBN NCF1 NDN NDP NDST1 NECAP1 NEFH NEK1 NEUROD2 NEXMIF NF1 NFIA NFIB NFIX NGLY1 NIPA1 NIPA2 NIPBL NKAP NKX2-1 NLGN1 NLGN3 NLGN4X NLRP3 NODAL NONO NOP56 NPAP1 NPHP1 NPHP3 NPHP4 NPM1 NR2F1 NSD1 NSD2 NSDHL NSUN2 NTNG1 NTNG2 NTRK1 NTRK2 NUMA1 NUS1 OCA2 OCRL ODC1 OPHN1 OPTN OTX2 PACS1 PACS2 PAH PAK3 PANK2 PARK7 PARS2 PCDH19 PCGF2 PCNT PCSK1 PDCD6IP PDE11A PDE4D PDGFRB PDPN PDSS1 PDZD8 PFN1 PGM2L1 PHF21A PHIP PIDD1 PIEZO2 PIGH PIGP PIGQ PIK3CA PINK1 PKHD1 PLA2G6 PLAG1 PLCH1 PLPBP PML PMS1 PMS2 PNKP PNP PODXL POGZ POLA1 POMC PON1 PON2 PON3 PPARGC1A PPM1D PPP1R12A PPP1R21 PPP2CA PPP2R1A PPP3CA PRDM16 PREPL PRKAR1A PRKAR1B PRKCG PRKCZ PRKD1 PRKN PRNP PRODH PROKR2 PRPH PRR12 PSEN1 PSEN2 PSMB1 PSMD12 PTCH1 PTCHD1 PTEN PTPN22 PTS PUF60 PUS7 PWAR1 PWRN1 RAB39B RAC1 RAD21 RAI1 RARA RELN RERE RFC2 RFX7 RIC1 RNF13 RPS20 RREB1 RSRC1 RUSC2 SATB1 SATB2 SCAPER SCN1A SCN1B SCN2A SCN3A SCN4A SCN8A SCN9A SEC24C SEMA3E SEMA4A SETBP1 SETD2 SETD5 SGCE SGSH SH2B1 SH3KBP1 SHANK3 SHH SHMT2 SHOC2 SHROOM4 SIK1 SIM1 SIN3A SIX3 SKI SLC12A3 SLC13A5 SLC18A3 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC25A1 SLC25A13 SLC25A22 SLC25A36 SLC2A1 SLC2A3 SLC32A1 SLC38A3 SLC3A1 SLC41A1 SLC5A2 SLC5A7 SLC6A1 SLC6A19 SLC6A8 SLC7A6OS SLC7A7 SLC9A7 SLF2 SLITRK1 SLITRK2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMC5 SMPD1 SNAP25 SNCA SNORD115-1 SNORD116-1 SNRPN SOD1 SORL1 SOX11 SOX2 SOX3 SOX4 SOX5 SOX6 SPAST SPEN SPG7 SPR SPRED1 SPTBN1 SQSTM1 SRCAP SRPX2 STAG2 STAT3 STAT5B STEEP1 STIL STS STX1A STXBP1 SUGCT SUOX SUPT16H SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TAF15 TAF6 TANC2 TAOK1 TARDBP TAS2R16 TBC1D23 TBC1D2B TBK1 TBL1X TBL1XR1 TBL2 TBX1 TBX2 TCF20 TDGF1 TET3 TGFBR2 TGIF1 THRB TIAM1 TICAM1 TIMM8A TKT TLK2 TLR3 TMCO1 TMEM106B TMEM147 TMEM222 TMEM240 TMEM270 TMEM67 TNIK TNPO2 TNRC6B TOMM40 TPH2 TRAF3 TRAK1 TRANK1 TRAPPC14 TRAPPC9 TREM2 TRIM8 TRIO TRIP12 TSC1 TSC2 TSEN54 TSHB TSHR TTI2 TUBA1A TUBB2B TUBB3 TUBG1 TYROBP UBA5 UBE3A UBE3C UBE4A UBE4B UBQLN2 UBTF UCHL1 UCP2 UFD1 UNC13A UNC93B1 UPF3B UQCC2 UQCRQ USP7 VAMP1 VANGL1 VAPB VCP VPS13A VPS13C VPS16 VPS35 VPS37D WAC WBP11 WDR62 WFS1 WWOX YME1L1 YWHAG YY1 ZBTB16 ZBTB20 ZDHHC9 ZIC2 ZMIZ1 ZMYM2 ZNF292 ZNF699 ZSWIM6 HP_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION AARS2 ABCC6 ACADVL B2M BAG5 COA6 CRYAB CSRP3 DES DSG2 DYSF FHOD3 FKTN GATAD1 GET3 GJA5 GTPBP3 KCNJ5 LAMA2 LAMA4 LAMP2 LMNA LMOD2 MYBPC3 MYH6 MYH7 MYL3 MYOZ2 NEXN NPPA POLG POLG2 PPCS PSEN1 PSEN2 RAF1 RPL3L RRAGD RRM2B SCN5A SDHA SGCD SLC25A4 TNNC1 TNNI3 TNNT2 TOP3A TTN TTR TWNK VCL VEZF1 HP_REDUCED_NATURAL_KILLER_CELL_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NATURAL_KILLER_CELL_ACTIVITY AP3B1 FCGR3A IKBKG IL2RG LCP2 NLRC4 PIK3CD PRF1 PRKCD SH2D1A STX11 STXBP2 UNC13D WAS WIPF1 XIAP HP_REDUCED_NATURAL_KILLER_CELL_COUNT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NATURAL_KILLER_CELL_COUNT AP3B1 B2M CD70 DCLRE1B DNMT3B DOCK8 ELF4 FCGR3A GATA2 IKBKB IL2RG IL6ST KNSTRN MCM10 MCM4 NLRC4 PGM3 PIK3CD PIK3CG PIK3R1 PTPRC RIPK1 SASH3 SYK TOM1 HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS AGBL1 COL8A2 GRHL2 OVOL2 SLC4A11 TCF4 VSX1 ZEB1 HP_REDUCED_NUMBER_OF_INTRAHEPATIC_BILE_DUCTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NUMBER_OF_INTRAHEPATIC_BILE_DUCTS DCDC2 JAG1 LMBRD1 PEX14 TMEM67 HP_REDUCED_PANCREATIC_BETA_CELLS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PANCREATIC_BETA_CELLS ABCC8 EIF2AK3 GCK INS KCNJ11 PDX1 STAT3 HP_REDUCED_PROGRESSIVE_SPERM_MOTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROGRESSIVE_SPERM_MOTILITY AKAP3 CFAP45 DNAH10 DNAH7 DNALI1 DNHD1 DRC1 FBXO43 IFT74 RPL10L SSX1 TEKT3 USP26 WDR19 HP_REDUCED_PROTEIN_C_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_C_ACTIVITY ALG12 ALG6 ALG8 B4GALT1 DPM1 GGCX MPI NGLY1 PROC HP_REDUCED_PROTEIN_S_ACTIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_S_ACTIVITY ALG12 ALG6 B4GALT1 DPAGT1 DPM1 GGCX MPI PROS1 HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION ACTN4 BSND CEP290 CLCN7 DCDC2 DHX16 DZIP1L IFT140 NIPBL PDCD6IP PKHD1 TMEM67 TULP3 VPS33B HP_REDUCED_SPERM_MOTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SPERM_MOTILITY AK7 ALG5 ALG9 ARL2BP ARMC2 BICC1 BRDT CATIP CATSPER1 CATSPER2 CCDC34 CCDC39 CEP112 CFAP251 CFAP298 CFAP410 CFAP43 CFAP47 CFAP58 CFAP69 CFAP91 CT55 DNAH1 DNAH10 DNAH17 DNAH2 DNAH7 DNAH8 DNAJB11 DNALI1 DNHD1 FSIP2 GANAB GBA2 HNF1B HYDIN IFT140 KCNU1 KLHL10 PDHA2 PKD1 PKD2 PMFBP1 RSPH4A RSPH9 SEPTIN12 SLC26A8 SPAG17 SPEF2 SSX1 STK36 STRC SUN5 TTC21A TTC29 USP26 ZMYND10 HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE AGPAT2 ATP6V1A ATP6V1E1 BSCL2 CAV1 ERCC6 ERCC8 FBN1 FH GNB2 H4C5 IGF1R INSR KCNJ6 KCNK9 LEMD2 LMNA NAA10 PLIN1 POLR3A PPARG PTF1A RBM28 SKI SLC25A24 SLC2A2 SOX18 TGFB1 TGFB3 TOP3A ZMPSTE24 HP_REDUCED_SYSTOLIC_FUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SYSTOLIC_FUNCTION ABCC9 ALPK3 CACNA1S CASQ2 CSRP3 DES DSP GABRA3 JPH2 JUP KCNE3 KCNJ18 LIMS2 MYPN PLN RYR2 SCN4A SCN5A SGCD TKFC TPM2 TPM3 TRDN HP_REDUCED_TENDON_REFLEXES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_TENDON_REFLEXES AARS1 AARS2 ABCA1 ABHD12 ABHD5 ACADM ACAT1 ACD ACER3 ACO2 ACOX1 ACTA1 ACTL6B ADCY6 ADSS1 AGRN AGTPBP1 AIFM1 AK9 ALDH18A1 ALDH4A1 ALDH5A1 ALG1 ALG14 ALG2 ALG6 AMPD1 AMT ANXA11 AP3B2 APOB APTX AR ARHGEF2 ARL6IP1 ARSA ARSI ARV1 ASAH1 ASCC1 ATL3 ATM ATN1 ATP11A ATP1A1 ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP6V1B2 ATP7A ATP9A ATXN1 ATXN10 ATXN2 ATXN3 B3GALNT2 B4GALNT1 B4GAT1 BAG3 BEAN1 BICD2 BIN1 BSND C19orf12 CACNA1A CACNA1B CACNA1S CACNA2D1 CADM3 CARS1 CARS2 CAV3 CCDC47 CD59 CDK19 CDK5 CELF2 CFL2 CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE CLCNKA CLCNKB CLPB CLTC CNBP CNKSR2 CNTN1 CNTNAP1 CNTNAP2 COA7 COASY COG7 COL12A1 COL13A1 COL25A1 COL4A1 COLQ COX6A1 COX8A CPT1A CRPPA CRYAB CYFIP2 DAG1 DALRD3 DARS2 DBH DCAF8 DDB2 DEAF1 DES DGUOK DHDDS DHH DHTKD1 DHX16 DHX30 DKC1 DKK1 DMD DNAJB2 DNAJC3 DNAJC6 DNASE1L3 DNM1 DNM1L DNM2 DNMT1 DOCK3 DOK7 DPAGT1 DPM3 DPYD DST DUOX2 DUOXA2 DYNC1H1 DYSF EEF1A2 EGR2 ELOVL4 ELP1 EMC1 EMD ENTPD1 ERBB3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERGIC1 ERLIN1 EXOSC1 EXOSC3 EXOSC8 EXOSC9 EXTL3 FAM111B FASTKD2 FBLN5 FBN1 FBXO28 FBXO38 FDX2 FGD4 FGF12 FGF13 FHL1 FIG4 FKBP10 FKRP FKTN FLI1 FLII FLNC FLRT1 FLVCR1 FMR1 FUS FUZ FXN FXR1 FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GALC GAN GARS1 GBA1 GBE1 GBF1 GDAP1 GEMIN4 GEMIN5 GFER GFPT1 GIPC1 GJB1 GLDC GLE1 GMPPB GNAS GNB4 GNE GNPTAB GOSR2 GRIA3 GRIN2A GRIN2D GTF2E2 GTF2H5 HACD1 HADHA HADHB HARS1 HCN1 HDAC4 HESX1 HEXB HINT1 HK1 HMGCL HNRNPDL HNRNPK HRAS HSD17B4 HSPB1 HSPB3 HSPB8 HSPG2 IARS2 IBA57 IFRD1 IGHMBP2 IL6ST INF2 INPP5K IQSEC2 ISCU ITGA7 ITPR3 IYD JAG1 JPH1 KARS1 KBTBD13 KCNA2 KCNB1 KCND3 KCNJ18 KCNK9 KIAA0586 KIF1A KIF1B KLC2 KLHL41 KLHL9 KRAS KY LAMA2 LAMB2 LARGE1 LDB3 LGI3 LGI4 LHX3 LHX4 LIFR LITAF LMNA LMOD3 LPIN1 LRP12 LRP4 LRRK1 LRSAM1 LYST MAG MAGEL2 MAP3K20 MARS1 MCM3AP MDH2 MED25 MEGF10 MFN2 MGME1 MME MORC2 MPLKIP MPV17 MPZ MRE11 MSTO1 MT-ATP6 MT-ATP8 MT-CO1 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TT MT-TV MT-TW MTM1 MTMR14 MTPAP MTRFR MTTP MUSK MYF6 MYH14 MYH7 MYL1 MYL2 MYO1H MYO9A MYORG MYOT MYPN NAGLU NARS1 NARS2 NDE1 NDRG1 NDUFA1 NDUFA9 NDUFAF2 NDUFS4 NEB NECAP1 NEFH NEFL NFASC NGLY1 NOTCH2NLC NRAS NTRK2 NUS1 OBSCN OCRL OPA1 OPA3 ORAI1 PACS2 PARN PARS2 PAX7 PDHB PDK3 PDSS1 PDXK PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP2 PGAP3 PGM3 PHYH PIEZO2 PIGB PIGG PIGL PIGN PIGO PIGV PIGW PIGY PIK3R5 PITX3 PLA2G6 PLEC PLEKHG4 PLEKHG5 PLOD1 PLP1 PMM2 PMP2 PMP22 PMPCA PNKP PNPLA2 PNPLA6 PNPT1 PODXL POLG POLG2 POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPOX PPP1R21 PPP2R5D PPP3CA PRDM12 PRDM13 PRKCG PRNP PROP1 PRORP PRPS1 PRX PSAP PSMB8 PSMC1 PTF1A PTRH2 PYROXD1 QRICH1 RAB3GAP2 RAB7A RAI1 RAPSN REEP1 RETREG1 RFC1 RILPL1 RMND1 RMRP RNASEH1 RNF113A RNF170 RRM2B RTEL1 RUBCN RXYLT1 RYR1 SACS SAR1B SBF1 SBF2 SCN3A SCN4A SCN8A SCN9A SCO2 SCYL1 SCYL2 SELENON SEPTIN9 SETX SH3TC2 SHANK3 SIGMAR1 SIL1 SIM1 SLC12A6 SLC13A5 SLC18A3 SLC1A2 SLC1A3 SLC25A1 SLC25A19 SLC25A21 SLC25A4 SLC25A46 SLC35A1 SLC38A3 SLC52A2 SLC5A5 SLC5A6 SLC5A7 SLC9A1 SMN1 SMN2 SMPD1 SNAP25 SNAP29 SNIP1 SNRPN SNX14 SOX10 SPEG SPG11 SPTBN4 SPTLC1 SPTLC2 SQSTM1 ST3GAL5 STAC3 STIM1 STX16 SUCLA2 SUCLG1 SURF1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TAOK1 TARDBP TARS1 TBC1D23 TBC1D24 TBCD TBCK TBK1 TCAP TDP1 TECPR2 TERT TFG TG TIMM50 TINF2 TK2 TMCO1 TMEM240 TMEM43 TNNT1 TOR1A TPI1 TPM2 TPM3 TPO TRAK1 TRAPPC11 TRIM2 TRIM32 TRIM37 TRIM8 TRIP4 TRMT5 TRMU TRPV4 TSEN15 TSHB TSHR TSPYL1 TTN TTPA TTR TUBA8 TWNK TYMP UBA1 UBA5 UGDH VAMP1 VANGL1 VAPB VCP VPS13A VPS33A VRK1 VWA1 WARS1 WDR81 WNK1 WWOX XK XPA XPC XRCC1 YARS1 YWHAG ZC4H2 ZSWIM6 HP_REDUCED_VISUAL_ACUITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VISUAL_ACUITY ABCA4 ABCC6 ABCD1 ACO2 ACTB ACVRL1 ADAMTS10 ADAMTSL4 ADNP AFF4 AFG3L2 AGBL1 AGBL5 AHI1 AHR AIP AIPL1 AIRE AKT1 ALDH3A2 ALG3 ALMS1 ANKRD55 AP1G1 AP1S2 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC ARHGEF18 ARHGEF2 ARL2 ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARSA ASNS ASPA ASPH ATF6 ATIC ATOH7 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATRX ATXN7 B3GALNT2 B3GAT3 B4GAT1 BAP1 BBS1 BBS2 BBS5 BCOR BEST1 BLOC1S3 BLOC1S5 BMP4 BRAF BTNL2 C1QBP C1QTNF5 C4A CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CBS CC2D2A CCDC28B CCR1 CD109 CD247 CDC42 CDC42BPB CDH23 CDH3 CDHR1 CEP164 CEP250 CEP290 CERKL CFAP410 CFAP418 CHN1 CHP1 CHRDL1 CHST3 CHST6 CLCC1 CLCN6 CLCN7 CLEC3B CLN3 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COL11A1 COL25A1 COL2A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 COX7B CRB1 CREBBP CRLS1 CRX CRYAA CRYBB1 CRYGC CTC1 CTNNA1 CTNNB1 CTNS CYP4V2 DCT DHDDS DHX37 DHX38 DLD DNAJC30 DNM1L DNMBP DPP6 DRAM2 DTNBP1 DYRK1A EBP EIF2B1 ELN ELOVL1 ELOVL4 ELP4 ENG EPRS1 ERAP1 ERCC4 ERF EYS FAM161A FAS FBN1 FBN2 FDXR FGFR2 FGFR3 FKRP FKTN FLNA FLVCR1 FOXE3 FOXL2 FOXRED1 FRAS1 FREM2 FRMD7 FSCN2 FXN FZD4 GALC GATA1 GDF2 GDF6 GJB2 GLB1 GM2A GMPPB GNAQ GNAS GNAT1 GNAT2 GNB3 GP1BA GP1BB GPR143 GPR179 GRHL2 GRIP1 GRK1 GRM6 GUCA1A GUCA1B GUCY2D H1-4 H4C3 H4C9 HCCS HDAC4 HEXA HEXB HGSNAT HK1 HLA-B HLA-DRB1 HMX1 HPS1 HPS3 HPS4 HPS5 HPS6 HSD17B10 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT43 IFT88 IL10 IL12A IL12A-AS1 IL23R IL2RA IL2RB IMPDH1 IMPG1 IMPG2 INPP5E IQCB1 ITGA2 ITGA2B ITGB3 ITM2B KAT6A KCNJ13 KCNN2 KCNV2 KERA KIAA1549 KIDINS220 KIF11 KIF14 KIF1C KIF21A KIZ KLHL7 KLRC4 KMT2D KRT12 LAMA1 LAMB2 LARGE1 LCA5 LIM2 LMBRD2 LONP1 LRAT LRIT3 LRMDA LRP5 LRPAP1 LYST MAFB MAG MAK MAP3K7 MAPKAPK3 MARK3 MC1R MECR MED12 MED25 MEFV MEN1 MERTK MFRP MFSD8 MICU1 MIR184 MIR204 MLXIPL MMACHC MMP19 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MTFMT MTR MTRFR MTRR MTTP NAA10 NBAS NDE1 NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NF1 NF2 NFIX NHS NLRP3 NMNAT1 NOG NPHP4 NR2E3 NR2F1 NRL NSMCE2 NUBPL NYX OAT OCA2 OCRL OFD1 OGT OPA1 OPA3 OPN1LW OPN1MW OPN1SW OSTM1 OVOL2 P3H2 P4HTM PANK2 PANK4 PAX2 PAX6 PCARE PCYT1A PCYT2 PDE6A PDE6B PDE6C PDE6G PDE6H PDGFB PDHA1 PDXK PDZD8 PEX6 PEX7 PGK1 PHOX2A PI4KA PIGN PIK3CA PIK3R2 PITPNM3 PITX2 PITX3 PLA2G6 PLG PLOD1 PNPT1 POC1B POGZ POLG POLR3GL POMGNT1 POMK POMT1 POMT2 PORCN POU3F4 PPT1 PQBP1 PRCD PRDX1 PRIMPOL PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRSS56 PSAP PTPN2 PTPN22 PUF60 PXDN RAB28 RAC1 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH12 REEP6 RFT1 RGR RGS9BP RHO RHOA RIC1 RIMS2 RLBP1 RNASEH1 RNU12 ROM1 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RRAS2 RTN4IP1 SAG SALL2 SALL4 SARDH SCAPER SCN1A SCN8A SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SELENOI SEMA4A SEPSECS SF3B2 SH3BP2 SLC1A3 SLC24A1 SLC24A5 SLC38A8 SLC39A14 SLC45A2 SLC4A11 SLC4A2 SLC7A14 SMAD4 SMARCB1 SMARCE1 SMCHD1 SMO SNRNP200 SOBP SPATA7 SREBF1 SSBP1 STAT4 STX3 SUFU TACSTD2 TANGO2 TASP1 TBC1D24 TBC1D2B TBX1 TCF4 TCIRG1 TENM3 TERT TFE3 TGFBI TIMM8A TIMMDC1 TIMP3 TLCD3B TLR4 TMEM126A TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TNFSF11 TOPORS TRAF7 TRIM44 TRIO TRPM1 TSEN15 TSEN2 TSEN34 TSEN54 TSPAN12 TTC8 TTLL5 TUB TUBA1A TUBA3D TUBB2B TUBB3 TUBB4B TUBGCP4 TULP1 TWIST1 TYR UBAC2 UCHL1 UFC1 UFM1 UNC119 UROD UROS USH2A USP45 VPS11 VPS13B VSX1 WAC WARS2 WASF1 WDR19 WDR26 WDR45 WFS1 XRCC4 XYLT1 XYLT2 YME1L1 ZEB1 ZFHX4 ZFYVE26 ZMIZ1 ZNF408 ZNF423 ZNF513 HP_REDUCED_VITAL_CAPACITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VITAL_CAPACITY ACTA1 ACTN2 AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 CRPPA DOK7 KBTBD13 KLHL41 LRP4 MAP3K20 MUSK MYH7 MYOT MYPN NEB PYROXD1 RAPSN SBF2 SCN4A SELENON TPM2 TPM3 TTN VCP HP_REDUNDANT_NECK_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_NECK_SKIN ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 CDK13 CEP55 CSPP1 DLK1 EBP ELN FBLN5 FGFR2 FIG4 GATA1 HRAS KIAA0586 MEG3 MRPS16 MRPS22 NAA10 NDUFB10 OTUD5 PEX1 PRMT7 RTL1 SH3PXD2B TBX15 TRAF7 VAC14 WDR37 WDR81 HP_REDUNDANT_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_SKIN ADAMTS2 AEBP1 ALDH18A1 ALG12 ANTXR1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A B4GALT1 BAZ1B BCL7B BRAF BUD23 CD96 CDK13 CEP55 CHST14 CLIP2 COL3A1 CSPP1 DLK1 DNAJC30 DSE EBP EED EFEMP2 EIF4H ELN EXT1 EZH2 FBLN5 FGF20 FGFR2 FGFR3 FIG4 FKBP6 FOXC1 GATA1 GGCX GORAB GPX4 GTF2I GTF2IRD1 GTF2IRD2 H1-4 HPGD HRAS KIAA0586 KRAS LIMK1 LTBP1 LTBP4 MAP2K1 MAP2K2 MEG3 METTL27 MLXIPL MRPS16 MRPS22 NAA10 NCF1 NDUFB10 NDUFB11 NPR2 NSD1 OTUD5 PEX1 PITX2 PRMT7 PTDSS1 PYCR1 RAD21 RFC2 RIN2 RPS6KA3 RTL1 SH3PXD2B SLC25A24 SLC2A10 SLC6A8 STX1A SUZ12 TBL2 TBX15 TMEM270 TRAF7 TRPS1 TWIST2 VAC14 VPS37D WDR37 WDR81 HP_RED_GREEN_DYSCHROMATOPSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_GREEN_DYSCHROMATOPSIA ACO2 C1QTNF5 FGF14 MFSD8 NR2E3 OPA1 OPA3 OPN1LW OPN1MW HP_RED_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_HAIR MC1R OCA2 PCSK1 PDE4D POMC PRKAR1A TYRP1 ZNF469 HP_REFLEX_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFLEX_SEIZURE CACNB4 CHD2 CILK1 CLCN2 CPA6 EFHC1 GABRA1 GABRD GABRG2 JRK KCNQ3 KCTD7 PCDH19 SCN1A SCN1B SCN2A SCN9A SLC9A6 SYNGAP1 TUBA1A TUBB2B TUBB3 HP_REFRACTORY_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFRACTORY_ANEMIA BMPR1A CP DDX41 GREM1 PTEN TBXAS1 HP_REGIONAL_ABNORMALITY_OF_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REGIONAL_ABNORMALITY_OF_SKIN AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 ACVRL1 ADAM17 ADAMTSL1 ADGRG6 ADNP AFF3 AIP AKT1 ALDH6A1 ALOX12B ALOXE3 ALPK3 ANAPC1 ANKRD1 ANKRD11 AP1B1 AP1S3 APC AQP5 ARID1B ARL3 ASXL1 ASXL2 ASXL3 ATN1 ATP2A2 ATP6V0A2 ATP6V1B2 ATR AUTS2 B3GLCT B4GALT7 BAG3 BAG5 BAZ1B BCL7B BCOR BHLHA9 BICD2 BLM BMP4 BMPR1B BRAF BRD4 BRF1 BUD23 C1R CAP2 CARD14 CAST CBL CCBE1 CCDC22 CCDC32 CCNQ CD28 CD4 CD96 CDC42BPB CDK10 CDK19 CDSN CEBPE CEP55 CEP57 CERS3 CFTR CHD1 CHD7 CHRNA1 CHRND CHRNG CHST14 CHST3 CHUK CIB1 CILK1 CKAP2L CLCN7 CLIP2 COG1 COG6 COL14A1 COL17A1 COL25A1 COL7A1 COX14 COX7B CPLX1 CREBBP CRYAB CSGALNACT1 CSNK2A1 CSRP3 CST6 CSTA CTBP1 CTC1 CTCF CTLA4 CTSB CTSC CYP27A1 CYP4F22 DDB2 DDX11 DEAF1 DES DHCR7 DHODH DHX30 DIS3L2 DKC1 DLK1 DLX4 DMD DNAJC30 DOCK6 DOK7 DOLK DPAGT1 DPH1 DPH2 DPYD DSC2 DSE DSG1 DSG2 DSP DST EFNB1 EHMT1 EIF4H ELN EMC1 ENPP1 EP300 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERGIC1 ESCO2 EXT1 EXTL3 EYA1 EZH2 FBXO28 FERMT1 FGD1 FGF9 FGFR2 FGFR3 FGFRL1 FHL2 FIG4 FKBP10 FKBP6 FKTN FLG FLNA FLVCR2 FOXP1 FOXP2 G6PC3 GATA1 GATAD1 GDF5 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GLE1 GLYCTK GMPPA GNB2 GPC6 GPKOW GPR101 GPR35 GRHL2 GRIN1 GSN GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B H4C5 H4C9 HAND2 HCCS HDAC4 HDAC8 HNRNPH2 HNRNPK HOXA13 HPGD HRAS HSPG2 IFNG IFT122 IFT43 IFT57 IGF1 IGF2 IL1R1 IL36RN IL6ST IRF6 IRX5 ITCH ITGA6 ITGB4 IVNS1ABP JARID2 JPH2 JUP KANK2 KANSL1 KAT6B KATNB1 KCNH1 KCNJ8 KCNK9 KCNMA1 KCNN3 KDF1 KDM4B KDM6A KDSR KIF14 KIF1A KIF21A KLHL24 KLLN KMT2A KMT2D KPTN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LBR LDB3 LDHA LETM1 LIFR LIG4 LIMK1 LMNA LMOD2 LMX1B LONP1 LORICRIN LRP4 LSS LTBP1 LTBP4 LZTR1 MAP1B MAP2K1 MAP2K2 MAP3K7 MBTPS2 MCOLN1 MCTP2 MED12 MED12L MED25 MEF2C MEG3 MEGF8 METTL27 MLXIPL MMP1 MMP14 MMP2 MRAS MSL3 MST1 MT-TS1 MTFMT MTOR MTX2 MUSK MYBPC3 MYH3 MYH6 MYH7 MYOD1 MYPN NAA10 NAA20 NALCN NBAS NCF1 NDE1 NDUFB11 NECTIN1 NECTIN4 NEXMIF NEXN NFIX NFKB2 NGLY1 NHP2 NIPAL4 NIPBL NLRP1 NOG NOP10 NPM1 NR2F1 NRAS NSD2 NSDHL NUP107 NUP188 NUP88 NXN OTUD5 PACS1 PAK3 PARN PAX1 PDGFRB PDHA1 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGM2L1 PHGDH PIEZO2 PIGL PIGN PIGQ PIGS PIK3CA PITX1 PKDCC PKP1 PLAA PLEC PLN PLOD1 PLOD2 PLOD3 PNPLA1 PNPLA6 POFUT1 POGLUT1 POLRMT POMP PORCN POU1F1 PPCS PPP2CA PPP2R3C PPP3CA PRDM16 PRKD1 PRR12 PSEN1 PSEN2 PSENEN PTCH1 PTCH2 PTEN PTPN11 PTPRF PUF60 RAB11B RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAPSN RASA2 RB1 RBM10 RBM20 RECQL4 RETREG1 RFC2 RHBDF2 RIN2 RIPK4 RIT1 RNU4ATAC ROR2 RPL10 RPL3L RPS23 RPS6KA3 RRAS RRAS2 RSPO1 RTEL1 RTL1 RUSC2 SALL4 SASH1 SCN5A SCN9A SCYL2 SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEMA4D SEPSECS SERPINA12 SERPINB7 SET SETBP1 SGCD SHOC2 SLC18A3 SLC25A12 SLC25A24 SLC39A13 SLC39A4 SLCO2A1 SLURP1 SMAD2 SMARCA2 SMARCAD1 SMC1A SMC3 SMC5 SMOC1 SMPD4 SMS SNAP29 SOS1 SOS2 SOX18 SPECC1L SPRED2 SPRTN SPTBN1 SRD5A3 STAG1 STAT3 STING1 STS STX1A STXBP1 SUFU SULT2B1 TAF1A TAF6 TAFAZZIN TASP1 TAT TBL1XR1 TBL2 TBX4 TCAP TCF12 TCF4 TELO2 TERC TERT TFAP2A TGDS TGM1 TGM5 THOC2 TINF2 TMEM147 TMEM270 TMPO TNFRSF1B TNNC1 TNNI2 TNNI3 TNNT2 TNNT3 TOE1 TP63 TPM1 TPM2 TRAPPC11 TRIM37 TRIM8 TRIO TRPM4 TRPS1 TRPV3 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSHR TTN TUBA1A TWIST1 TWIST2 TXNRD2 TYMS UBE3B UBR1 UBR7 UFC1 USB1 USF3 VAC14 VCL VEZF1 VPS13B VPS33A VPS33B VPS37D VPS51 WAC WDR37 WNK1 WNT10A WRAP53 XPA XPC XYLT1 YY1 ZC4H2 ZMYM2 ZNF292 ZNF407 ZNF462 ZNF469 HP_RELATIVE_MACROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RELATIVE_MACROCEPHALY ACAN ACER3 APC APC2 BGN BRAF CCDC22 CDKN1C CEP120 CUL4B DHCR24 DLK1 DOCK3 DPH1 DPH2 FH GRB10 H19 HMGA2 IFT81 IGF2 IHH ITCH LAMA5 LBR LMNA LZTR1 MED12 MEG3 MITF MRAS NF1 NONO NXN OBSL1 PCGF2 PLAG1 POLE POLR3A POP1 PPP1CB PTDSS1 RIT1 RTL1 SATB2 SERPINH1 SHOC2 SNX14 SON SOX9 THRA TNFRSF11B TONSL TRIP11 USP7 USP9X VPS35L XYLT1 ZMPSTE24 HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM ATOH7 BCOR CRPPA FZD4 LAMB2 NDP NF2 PAX6 PRR12 SIX3 SMC5 ZSWIM6 HP_RENAL_AGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AGENESIS ADA2 ALDH18A1 ALKBH8 ANKLE2 ANKRD17 ANOS1 APC2 ASPM ASXL2 ATN1 ATRX CCDC141 CCNQ CDC42 CDK5RAP2 CDK6 CDON CENPE CENPJ CEP135 CEP152 CEP63 CHD7 CIT COG6 COPB2 CPLANE1 CTU2 DCC DHCR24 DHCR7 DISP1 DLL1 DSTYK DUSP6 DYRK1A ELN ERCC6 ERCC8 EYA1 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCL FBLN5 FEZF1 FGF17 FGF20 FGF8 FGFR1 FGFR2 FLRT3 FOXH1 FREM1 FREM2 FUZ GAS1 GATA1 GATA3 GDF6 GFRA1 GLI2 GLI3 GNB2 GREB1L GRIP1 H4C9 HEATR3 HESX1 HNF1B HOXD13 HS2ST1 HS6ST1 IDH1 IL17RD INSL3 ITGA8 KCTD1 KIAA0753 KIF14 KIF7 KNL1 KNSTRN KYNU LMBRD1 LRP4 MBTPS2 MCM7 MCPH1 METTL5 MFSD2A MKS1 NADSYN1 NCAPD3 NDNF NODAL NSD1 NSDHL NUP37 OFD1 PBX1 PDE6D PHC1 PHGDH PIEZO2 PIK3C2A PIK3CD POR PPFIBP1 PPP2R1A PPP2R3C PRKAR1A PROK2 PROKR2 PTCH1 PTPN11 PUF60 PYCR2 RET ROBO1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTTN SALL4 SARS1 SASS6 SDCCAG8 SEMA3A SETD2 SF3B2 SF3B4 SH2B1 SHH SIX1 SIX3 SON SOX10 SPRY4 SRCAP STIL STS SUFU TACR3 TAF13 TBC1D24 TBX1 TBXT TCTN3 TDGF1 TFAP2A TGIF1 THOC6 TMCO1 TMEM216 TMEM67 TNXB TOPORS TP63 TRAPPC10 TRAPPC14 TRPV6 TSR2 TXNL4A VANGL1 WARS1 WBP11 WDR11 WDR62 WLS WNT3 WNT4 WNT9B XRCC4 ZIC2 ZIC3 ZMYM2 HP_RENAL_AMYLOIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AMYLOIDOSIS B2M COL7A1 MEFV MMP1 NLRP3 SAA1 SLC7A7 HP_RENAL_ANGIOMYOLIPOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ANGIOMYOLIPOMA CDKN1B IFNG MVK TSC1 TSC2 HP_RENAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ATROPHY ALG5 DCDC2 MAFB MUC1 PAX7 TMEM67 ZMIZ1 HP_RENAL_CELL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CELL_CARCINOMA AAGAB AKT1 APC ARMC5 AURKA AXIN2 BAP1 BAX BRAF BUB1 BUB1B CCND1 CDC73 CHEK2 COL14A1 CTNNB1 DCC DICER1 DLC1 DLST EP300 FGFR3 FH FLCN FOXE1 GNAS HABP2 HNF1A HNF1B IFNG KEAP1 KIF1B KLLN LMNA MAX MCC MDH2 MET MINPP1 MLH3 NF1 NOD2 NRAS OGG1 PBRM1 PDGFRL PIK3CA PLA2G2A PRCC PTEN PTPN12 PTPRJ RAD54B RET RNF139 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SLC25A11 SRC STK11 TFE3 TLR2 TMEM127 TP53 TSC1 TSC2 USF3 VHL HP_RENAL_CORTICAL_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_CYSTS CD96 CDKN1C CEP290 CSPP1 ETFA ETFB ETFDH IGF2 INVS KCNQ1 KCNQ1OT1 KIAA0586 MPDU1 NEK8 PEX1 PEX2 PIGQ SKIC3 HP_RENAL_CORTICAL_MICROCYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_MICROCYSTS INVS NEK8 PEX1 PEX2 SKIC3 HP_RENAL_CORTICOMEDULLARY_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICOMEDULLARY_CYSTS CRB2 DCDC2 MUC1 NPHP1 NPHP3 NPHP4 TMEM67 XPNPEP3 HP_RENAL_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CYST ABCC8 ACTG2 AKR1D1 AKT1 ALG5 ALG8 ALG9 AMER1 ANKS6 AP2S1 APPL1 ARL3 ARL6 ARL6IP6 ARVCF B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BICC1 BLK BMPER BRD4 BUB1 BUB1B BUB3 BUD23 CASZ1 CC2D2A CCND1 CD96 CDC73 CDKN1C CEL CEP120 CEP19 CEP290 CEP55 CEP57 CFAP418 CHRM3 CLIP2 CLPB COL4A1 COMT CPT2 CRB2 CSPP1 CWC27 DACT1 DCDC2 DHCR7 DHX16 DNAJB11 DNAJC30 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A DZIP1L EIF4H ELN ESCO2 ETFA ETFB ETFDH EYA1 FAN1 FIBP FKBP6 FLCN FLI1 FLNB FRAS1 FREM2 GABRD GANAB GATA3 GCK GLI3 GLIS3 GNA11 GP1BB GPC3 GPC4 GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HDAC8 HIRA HNF1A HNF1B HNF4A HOXD13 HSD17B4 HSPG2 IFNG IFT140 IFT172 IFT27 IFT43 IFT74 IFT80 IGF2 INPP5E INS INVS JAG1 JAM3 JMJD1C KAT6B KCNAB2 KCNJ11 KCNQ1 KCNQ1OT1 KIAA0586 KLF11 LAMA3 LAMB3 LAMC2 LHX1 LIG1 LIMK1 LMOD1 LRP5 LUZP1 LZTFL1 MAPKBP1 MBTPS2 MCTP2 METTL27 MKKS MKS1 MLXIPL MMP23B MPDU1 MPI MSH3 MT-CYB MUC1 MYH11 MYLK NAA10 NCAPG2 NCF1 NEK1 NEK8 NEUROD1 NIPBL NOTCH2 NPHP1 NPHP3 NPHP4 NRIP1 NXN OCRL OFD1 PAX1 PAX2 PAX4 PBX1 PDPN PDX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGN PIGQ PIGT PKD1 PKD2 PKHD1 PMM2 PORCN PRDM16 PRKCSH PRKCZ PTEN PUF60 RAD21 RAD51C RERE RFC2 RMND1 RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RREB1 RSPO2 SALL1 SCAPER SCLT1 SDCCAG8 SEC24C SEC61A1 SEC63 SETBP1 SF3B2 SH2B1 SHANK3 SIX1 SIX5 SKI SKIC2 SKIC3 SMC1A SMC3 SNRPB SPEN SPOP SRCAP STK11 STX1A TBC1D24 TBL2 TBX1 TCTN1 TCTN2 TCTN3 TFAP2A TKT TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TRIM32 TRIP11 TRIP13 TRRAP TSC1 TSC2 TTC8 TULP3 TXNDC15 UBE4B UFD1 VHL VPS37D WDPCP WDR35 WNT3 XPNPEP3 ZEB2 ZNF148 ZNF423 HP_RENAL_DUPLICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DUPLICATION B3GLCT BAZ1B BCL7B BUD23 CLIP2 COL18A1 DNAJC30 DVL1 EIF4H ELN FANCD2 FKBP6 FOXC2 GP1BA GP1BB GP9 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 ITGA6 ITGB4 KANSL1 KCTD1 LIMK1 METTL27 MLXIPL NCF1 PLEC RFC2 ROR2 RPS26 SLC6A17 SPINT2 STX1A TBL2 TMEM270 VPS37D WNT5A ZEB2 HP_RENAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DYSPLASIA AMMECR1 ARX BICC1 BNC2 CASK CDKL5 CEP55 COQ7 CPLANE1 CPT2 CSPP1 DMXL2 DYNC2H1 EYA1 FIBP FKRP FKTN GATA3 GLI3 GNAO1 GRB10 GREB1L GRIN1 GRM7 HNF1B IFT140 INTS1 ITGA6 ITGA8 ITGB4 JAG1 KCNA1 KIAA0586 LARGE1 MBTPS2 MYCN NEUROD2 NPHP3 PAX2 PBX1 PIEZO2 PIGN PIGP PIGQ PIGT PLEC PLVAP PNKP POMT1 POMT2 RMND1 SALL1 SCN1B SCN2A SDCCAG8 SHANK3 SIK1 SIX1 SIX5 SLC25A22 SLC32A1 SMO SON TBX1 TBX18 TP63 TRIM8 TTC8 USP9X WNT4 ZNF148 ZNF699 HP_RENAL_FANCONI_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FANCONI_SYNDROME BCS1L CLCNKB COA8 CTNS FAH HNF1B HNF4A MT-TN MT-TS1 OCRL PIGA POLRMT RRM2B SLC12A3 SURF1 HP_RENAL_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FIBROSIS ACP5 ANTXR1 ARL3 BSND CLCN5 GBE1 MUC1 NDUFAF6 NPHP1 NPHP3 NPHP4 PKHD1 PTPRO REN SLC37A4 SLC7A7 HP_RENAL_HAMARTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HAMARTOMA CDC73 CDKN1B DIS3L2 IFNG MVK TSC1 TSC2 HP_RENAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA AFF3 ARID1B ARL6 ARVCF ATN1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATRX B3GLCT BAZ1B BCL7B BCOR BMP4 BUD23 C2CD3 CENPF CEP120 CEP55 CHD7 CLIP2 COMT COX14 DACT1 DCDC2 DCHS1 DHCR7 DLL4 DNAJC30 DSTYK DYNC2H1 DYNC2I1 DYNC2I2 EIF4H ELN ERCC6 ERCC8 FANCF FANCI FANCL FAT4 FBXW11 FGF10 FGFR2 FGFR3 FKBP6 FRAS1 FREM2 GEMIN4 GLI3 GP1BB GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C3 H4C5 HAAO HIRA HMGA2 HNF1B HRAS HSPA9 IFT27 IFT80 INTU JAG1 JMJD1C KCNJ2 KCNJ5 KCTD1 KIF14 KYNU LEMD3 LIMK1 LRP4 MBTPS2 MCM5 MDM2 METTL27 MLXIPL MT-ATP6 MT-ATP8 MUC1 MYOD1 NAA10 NCAPG2 NCF1 NFIA NIPBL NODAL NOTCH2 NRIP1 NSD2 PAX2 PBX1 PDE6D PIEZO2 PIK3CA PLXNA1 PPP1R15B PQBP1 PRIM1 PRMT7 PUF60 RAD21 RARB REN RFC2 RFWD3 RMND1 RNU4ATAC ROBO2 RPS19 RREB1 SALL1 SALL4 SEC24C SKIC2 SKIC3 SLC30A9 STRA6 STX1A TBL2 TBX1 TBX18 TBX3 TMEM270 TMEM67 TRRAP TXNL4A UFD1 VPS37D WDR19 WDR35 WNT7B XRCC4 ZNF699 ZPR1 HP_RENAL_HYPOPLASIA_APLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA_APLASIA ADA2 AFF3 ALDH18A1 ALKBH8 ANKLE2 ANKRD17 ANOS1 APC APC2 ARID1B ARL6 ARVCF ARX ASPM ASXL2 ATN1 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATRX B3GLCT BAZ1B BCL7B BCOR BMP4 BRCA1 BRCA2 BRIP1 BUD23 C2CD3 CCDC141 CCNQ CD96 CDC42 CDK5RAP2 CDK6 CDON CENPE CENPF CENPJ CEP120 CEP135 CEP152 CEP55 CEP63 CHD7 CIT CLIP2 COG6 COMT COPB2 COX14 CPLANE1 CTU2 DACT1 DCC DCDC2 DCHS1 DEAF1 DHCR24 DHCR7 DISP1 DLL1 DLL4 DNAJC30 DSTYK DUSP6 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EIF4H ELN ERCC4 ERCC6 ERCC8 EVC EVC2 EYA1 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN5 FBXW11 FEZF1 FGF10 FGF17 FGF20 FGF8 FGFR1 FGFR2 FGFR3 FKBP6 FLII FLRT3 FOXH1 FRAS1 FREM1 FREM2 FUZ GAS1 GATA1 GATA3 GDF3 GDF6 GEMIN4 GFRA1 GLI1 GLI2 GLI3 GNB2 GP1BB GPKOW GREB1L GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H4C3 H4C5 H4C9 HAAO HEATR3 HESX1 HIRA HMGA2 HNF1B HOXD13 HRAS HS2ST1 HS6ST1 HSPA9 IDH1 IFT27 IFT80 IL17RD INSL3 INTU IQSEC2 ITGA8 JAG1 JMJD1C KCNJ2 KCNJ5 KCTD1 KDM6A KIAA0753 KIF14 KIF7 KMT2D KNL1 KNSTRN KYNU LEMD3 LHX1 LIMK1 LMBRD1 LRP4 MAD2L2 MBTPS2 MCM5 MCM7 MCPH1 MDM2 MEOX1 METTL27 METTL5 MFSD2A MKKS MKS1 MLXIPL MT-ATP6 MT-ATP8 MUC1 MYOD1 NAA10 NADSYN1 NCAPD3 NCAPG2 NCF1 NDNF NF1 NFIA NIPBL NODAL NOTCH2 NRIP1 NSD1 NSD2 NSDHL NUP37 OFD1 PALB2 PAX1 PAX2 PBX1 PDE6D PHC1 PHGDH PIEZO2 PIK3C2A PIK3CA PIK3CD PLXNA1 POR PORCN PPFIBP1 PPP1R15B PPP2R1A PPP2R3C PQBP1 PRIM1 PRKACA PRKACB PRKAR1A PRMT7 PROK2 PROKR2 PTCH1 PTPN11 PUF60 PYCR2 RAD21 RAD51 RAD51C RAI1 RARB REN RET RFC2 RFWD3 RIPK4 RMND1 RNU4ATAC ROBO1 ROBO2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RTTN SALL1 SALL4 SARS1 SASS6 SDCCAG8 SEC24C SEMA3A SETD2 SF3B2 SF3B4 SH2B1 SHH SIX1 SIX3 SIX5 SKIC2 SKIC3 SLC30A9 SLX4 SON SOX10 SPRY4 SRCAP STIL STRA6 STS STX1A SUFU TACR3 TAF13 TBC1D24 TBL2 TBX1 TBX18 TBX3 TBXT TCTN3 TDGF1 TFAP2A TGIF1 THOC6 TMCO1 TMEM216 TMEM270 TMEM67 TNXB TOPORS TP63 TRAPPC10 TRAPPC14 TRPV6 TRRAP TSR2 TXNL4A UBE2T UFD1 VANGL1 VPS37D WARS1 WBP11 WDR11 WDR19 WDR35 WDR62 WLS WNT3 WNT4 WNT7B WNT9B XRCC2 XRCC4 ZIC2 ZIC3 ZMYM2 ZNF699 ZPR1 HP_RENAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_INSUFFICIENCY ABCA12 ACP5 ACSL4 ACTN4 AGXT AHI1 ALDH4A1 ALDOA ALDOB ALG1 ALG5 ALG9 ALMS1 ALOX12B ALOXE3 AMMECR1 AMN ANKFY1 ANKS6 ANLN AP1S3 AP2S1 APC2 APOE APOL1 APRT AQP2 ARHGAP24 ARHGDIA ASPRV1 AVIL AVPR2 B2M BAZ1B BBIP1 BBS10 BBS9 BCL7B BICC1 BNC2 BRCA1 BRCA2 BRD4 BRIP1 BSND BTNL2 BUD23 C3 C4A CACNA1S CASP10 CAV1 CC2D2A CCN2 CCND1 CCNQ CCR1 CCR6 CD151 CD2AP CD46 CD81 CDC73 CEP120 CEP164 CEP290 CEP83 CFB CFH CFHR1 CFHR3 CFHR5 CFI CHD4 CHRM3 CHRNA3 CLCN5 CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CLIP2 CLPB COG1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL7A1 COQ6 COQ8B CORIN CPT2 CRB2 CSPP1 CTLA4 CTNS CUBN CYP4F22 DAAM2 DACT1 DCDC2 DGKE DHDDS DNAJB11 DNAJC30 DNASE1L3 DSTYK DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DZIP1L EHHADH EHMT1 EIF2AK3 EIF4H ELN ELP1 EMP2 ERAP1 ERCC4 ERCC6 ERCC8 EYA1 FAH FAM20A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASLG FKBP6 FLT1 FN1 FUZ FXYD2 GANAB GAPVD1 GATA3 GATM GCDH GCM2 GLA GLIS2 GON7 GPR35 GRHPR GSN GTF2I GTF2IRD1 GTF2IRD2 HBB HDAC8 HELLPAR HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HNF1B HNRNPK HOXA13 HPRT1 HPS1 HPSE2 HRAS HSD11B2 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT27 IFT43 IFT80 IKZF1 IL10 IL12A IL12A-AS1 IL23R IL36RN INF2 INPP5E INVS IQCB1 IRAK1 IRF5 ITGA3 JAG1 KARS1 KCNE5 KCTD1 KIAA0586 KIAA0753 KLRC4 KYNU LAGE3 LAMA5 LAMB2 LCAT LDHA LHX1 LIMK1 LIPN LMX1B LPIN1 LRIG2 LZTFL1 MAD2L2 MAFB MAGI2 MAPKBP1 MDM2 MED12 MEFV MEN1 METTL27 MLXIPL MMACHC MME MMP1 MMUT MOCOS MST1 MT-CO1 MT-CO3 MT-TE MT-TK MT-TL1 MT-TT MUC1 MYCN MYD88 MYH9 MYO1E MYOCD NCF1 NDUFAF6 NEK8 NFS1 NIPAL4 NIPBL NLRP3 NOD2 NOS1AP NOTCH2 NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NSD1 NTRK1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OBSCN OCLN OCRL OFD1 OSGEP P4HA2 PALB2 PAX2 PAX6 PBX1 PEX7 PGAM2 PGK1 PHYH PIGA PKD1 PKD2 PKDCC PKHD1 PLCE1 PNPLA6 POLRMT PPOX PRDX1 PRKCD PRPS1 PRTN3 PTPN22 PTPRO PUS3 PYGM RAD21 RAD51 RAD51C RASGRP1 REN RFC2 RFWD3 RMND1 RNU7-1 ROBO1 RPGRIP1L RRM2B RYR1 SAA1 SALL1 SARS2 SAT1 SCARB2 SCNN1A SCNN1B SCNN1G SDCCAG8 SDR9C7 SEC61A1 SEMA4D SETD2 SGPL1 SH2B1 SHPK SIX1 SIX5 SLC22A12 SLC26A1 SLC2A9 SLC30A9 SLC34A1 SLC37A4 SLC3A1 SLC41A1 SLC4A2 SLC5A1 SLC7A7 SLC7A9 SLX4 SMARCAL1 SMC1A SMC3 SOX18 SPP1 SPRY2 SRCAP STAT2 STAT4 STOX1 STS STX1A SULT2B1 TBC1D8B TBL2 TBX1 TBX18 TCF4 TCN2 TGM1 THBD TLR4 TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TP53RK TPRKB TRAF3IP1 TRPC6 TSC1 TSC2 TTC21B TTC26 UBAC2 UBE2T UMOD VANGL1 VPS37D WDR19 WDR35 WDR73 WT1 XPNPEP3 XRCC2 YRDC ZMPSTE24 ZNF423 ZNF592 ZNF699 ZNFX1 HP_RENAL_INTERSTITIAL_FIBROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_INTERSTITIAL_FIBROSIS ALG5 DCDC2 FAN1 RPGRIP1L TULP3 WDR19 HP_RENAL_MAGNESIUM_WASTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MAGNESIUM_WASTING ATP1A1 CLDN16 CLDN19 FXYD2 IFT122 KCNJ10 SLC12A3 HP_RENAL_MALROTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MALROTATION EYA1 FIBP PAX2 RBM8A SALL4 SIX1 SOX11 STRA6 HP_RENAL_PHOSPHATE_WASTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_PHOSPHATE_WASTING CLCN5 CTNS DMP1 EHHADH ENPP1 FGF23 GATM GNAS INPPL1 NDUFAF6 NHERF1 PHEX SLC34A1 SLC34A3 HP_RENAL_POTASSIUM_WASTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_POTASSIUM_WASTING ATP1A1 CLCNKB KCNJ1 KCNJ10 SLC12A1 SLC12A3 HP_RENAL_SALT_WASTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SALT_WASTING BSND CLCNKA CLCNKB CYP11A1 CYP11B1 CYP11B2 CYP21A2 HSD3B2 KCNJ1 KCNJ10 KCNJ16 MC2R MRAP MUC1 NNT NR0B1 SARS2 SCNN1A SLC12A1 STAR TXNRD2 HP_RENAL_SODIUM_WASTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SODIUM_WASTING CYP11B2 EHHADH GATM HSD11B2 KCNJ10 NDUFAF6 SLC34A1 HP_RENAL_STEATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_STEATOSIS ABCG5 ABCG8 APOB APOE EYA1 LDLR LDLRAP1 PCK1 PCK2 PCSK9 SIX1 HP_RENAL_TUBULAR_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_ACIDOSIS ALDOB ATP6V0A4 ATP6V1B1 BCS1L CA2 CAD CLCNKB CLDN16 COA8 CPT1A CTNS EHHADH EPG5 FAH FBXL4 GATA3 GATM HNF1B HNF4A JAG1 KYNU MT-TL1 MT-TN MT-TS1 NADK2 NDUFAF6 NOTCH2 OCRL PC PHKA2 PHKB PHKG2 PIGA POLRMT RMND1 RRM2B SLC12A3 SLC2A2 SLC34A1 SLC4A1 SLC4A4 SURF1 TAOK1 UQCC2 VIPAS39 VPS33B HP_RENAL_TUBULAR_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_DYSFUNCTION ABCC8 ALDOB ATP6V0A4 ATP6V1B1 ATP7B BCS1L BSND CA2 CAD CEP290 CLCN5 CLCNKA CLCNKB CLDN16 CNNM2 COA8 COG6 CPT1A CTNS EHHADH EPG5 ETFA ETFB ETFDH FAH FAM20A FBXL4 FOXRED1 GALNT3 GATA3 GATM GCK GNAS HBB HNF1B HNF4A INS JAG1 KCNJ11 KCNJ2 KCNJ5 KYNU LRP2 MMUT MPI MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TN MT-TQ MT-TS1 MT-TS2 MT-TW NADK2 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NOTCH2 NPHP1 NUBPL OCRL PC PDX1 PEX19 PHEX PHKA2 PHKB PHKG2 PIGA PMM2 POLRMT RMND1 RRM2B SLC12A3 SLC2A2 SLC34A1 SLC34A3 SLC4A1 SLC4A4 SLC5A2 STAT3 SURF1 TAOK1 TIMMDC1 TMEM126B TRMT5 UQCC2 VIPAS39 VPS33B HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS CPT2 LAMA3 LAMB3 LAMC2 SLC22A12 HP_RENOVASCULAR_HYPERTENSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENOVASCULAR_HYPERTENSION ABCC6 BAZ1B BCL7B BUD23 CLIP2 COL3A1 DNAJC30 EIF4H ELN FIG4 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 NF1 RFC2 STAT1 STX1A TBL2 TMEM270 TOM1 VAC14 VPS37D XYLT1 XYLT2 YY1AP1 HP_REPETITIVE_COMPULSIVE_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REPETITIVE_COMPULSIVE_BEHAVIOR AUTS2 DNAJC19 FOXP1 GRN IFNG MECP2 NR2F1 SPTBN1 SYT1 TRANK1 TSC1 TSC2 WDR26 HP_RESPIRATORY_ALKALOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ALKALOSIS ASL ASS1 CA5A CPS1 OTC SLC25A15 HP_RESPIRATORY_ARREST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ARREST ACADVL ADGRG6 AFF3 AGRN CHAT COL13A1 COL2A1 CPT2 DCTN1 DDC GET3 GPX4 HTRA2 KIT LAMP2 MTFMT MYL2 MYO9A SLC18A3 SLC25A1 SLC25A20 SLC2A10 SLC5A7 SLC6A5 SNAP25 SYT2 TSPYL1 TXNDC15 VAMP1 HP_RESPIRATORY_DISTRESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_DISTRESS ABCA3 ABCC6 ACADS ACADVL ACTA1 ADAMTS13 ADCY6 ADNP AGRN AIFM1 ALG12 ALMS1 ASAH1 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1B2 ATPAF1 ATPAF2 B3GALT6 BAP1 BMPER BOLA3 BTD CACNA1A CDC45 CDC6 CDT1 CHAT CHRNE CLCNKB CLPB CNTNAP1 COL13A1 COL25A1 COL2A1 COLQ COQ7 COX7B CREBBP CSF2RA CSF2RB DHX16 DISC1 DMPK DNAAF3 DNAJC21 DPM1 DPM2 DYNC2LI1 EDA EDN1 EFTUD2 ENPP1 EOMES EP300 EPHB4 ERF ERGIC1 ETFA ETFB ETFDH FAM20C FBP1 FGFR1 FGFR2 FGFR3 FOXF1 FOXP3 GAA GALC GATA6 GBA1 GMNN GNAI3 GOSR2 HCCS HLCS IDH1 IFIH1 IFNG IFT52 IFT81 IL1RN IL6ST ITGA3 KAT6A KATNB1 KCNA1 KLHL7 KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB2 LAMB3 LAMC2 LGI4 LIFR LMNA LONP1 LRP12 LYRM4 MAPT MEGF10 MGAT2 MMAA MMAB MMACHC MMUT MOGS MPC1 MPV17 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MT-TV MT-TW MTM1 MYBPC3 MYO9A NAGS NDE1 NDUFA8 NDUFB11 NEMF NGLY1 NKX2-1 NUP214 ORC1 ORC4 ORC6 OTX2 PLCB4 PMM2 POMT1 PPP1R21 PRKAG2 PRRX1 PSAP PUF60 PURA REEP1 RELN RNF13 RPS26 RPS28 RRM2B RUNX2 SBDS SCN4A SCO2 SCYL2 SDCCAG8 SDHA SERPING1 SERPINH1 SETBP1 SFTPB SFTPC SIK1 SLC12A3 SLC18A3 SLC1A3 SLC22A5 SLC25A1 SLC25A3 SLC2A10 SLC31A1 SLC35A1 SLC52A3 SLC5A7 SNAP25 SNRPN SOX9 SRP54 SSR4 STAT5B STT3B SUCLG1 SURF1 SYT2 TBC1D24 TFAM TK2 TP73 TPI1 TRAK1 TRIP11 TRMT10C TRMU TRPV6 TSC1 TSC2 TUBB4A UBA1 UBE3B USP9X VAMP1 VPS33A WDR45B XPNPEP2 YARS2 ZFPM2 ZIC3 HP_RESPIRATORY_FAILURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE ABCA3 ACTA1 ACVR1 AGRN AGTPBP1 AHCY AK9 ALG1 AMT ANG ANXA11 ASAH1 ASCC1 ATAD1 ATXN1 ATXN2 BCHE BICD2 BLM BOLA3 BSCL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNF CCNO CDC45 CDC6 CDT1 CFAP221 CFAP298 CFAP300 CFAP410 CFAP74 CHCHD10 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CLPB CNTNAP1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COX7B CPT2 CRYAB CSPP1 CTSD DAG1 DAO DCTN1 DLK1 DMD DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB4 DNAL1 DOK7 DRC1 DSP DTYMK DZIP1L ECHS1 EPHA4 ERBB3 ERBB4 EXOSC3 EXOSC8 EXOSC9 FAM20C FARSB FGFR3 FHL1 FIG4 FKRP FLNA FOXJ1 FREM2 FUS GAA GALC GAS2L2 GAS8 GATA2 GFRA1 GLE1 GLS GLT8D1 GMNN GMPPB GOSR2 GTPBP3 HACD1 HADHA HADHB HCCS HCK HNRNPA1 HRAS HTRA2 HYDIN IBA57 IFIH1 IFNG IFT81 IGHMBP2 INVS ITGA7 JUP KARS1 KLHL40 KLHL41 LAMA2 LAMA3 LAMB3 LAMC2 LARGE1 LBX1 LMOD3 LRP4 LRPPRC LRRC56 LTBP3 LYRM7 MAP3K20 MATR3 MCIDAS MCM4 MED11 MEG3 MEGF10 MGME1 MICOS13 MT-TN MT-TS1 MTTP MUSK MYL1 MYL2 MYOT NAXE NBN NDUFAF2 NDUFAF3 NDUFB11 NDUFB8 NDUFS4 NEB NEFH NEK1 NEK10 NFS1 NFU1 NHLRC2 NKX2-1 NME5 NME8 NPC2 NUP188 NUTM2B-AS1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPTN ORC1 ORC4 ORC6 OSTM1 PDHA1 PEX6 PFN1 PIGA PKHD1 PLP1 POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH PSAP PTCD3 RAPSN RMND1 RNF168 RNU4ATAC RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RYR1 SARS2 SCN4A SELENON SFTPB SFTPC SLC25A26 SLC25A46 SLC2A10 SLC34A2 SLC6A9 SMAD4 SMN1 SOD1 SON SPAG1 SPEF2 SQSTM1 STK36 SUCLG1 SURF1 TAF15 TARDBP TBCD TBK1 TFG TK2 TMEM70 TPI1 TPM2 TPM3 TREM2 TRPV4 TSC1 TSC2 TSEN54 TSFM TTC12 TTN TUFM UBE3B UBQLN2 UNC13A VAPB VCP VRK1 ZMYND10 HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION ACTA1 AHDC1 ALAD ARSL BCHE CSF2RA CSF2RB DPYD GAA GNPTAB HPDL IGHMBP2 MT-TE MTM1 MYH11 NDUFAF8 POLR1B PRIM1 PRPS1 SLC25A46 SLC52A3 SMPD1 TBCD TBK1 TFG TICAM1 TK2 TLR3 TRAF3 TRMU TSEN54 UNC93B1 USP18 HP_RESPIRATORY_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY AAAS ABCA12 ABCA3 ABCB11 ABCB4 ACADVL ACE ACOX1 ACTA1 ACTN2 ACVR1 ADAMTS3 ADGRG6 ADPRS AFF3 AGGF1 AGK AGRN AGT AGTPBP1 AGTR1 AHCY AHDC1 AIFM1 AK9 ALAD ALDH1A2 ALDH7A1 ALG1 ALG14 AMT ANG ANXA11 ARSL ASAH1 ASCC1 ASNS ASXL1 ATAD1 ATP8B1 ATXN1 ATXN2 B3GALT6 BAG3 BCHE BDNF BICD2 BIN1 BLM BMPER BOLA3 BSCL2 CANT1 CCBE1 CCDC103 CCDC174 CCDC39 CCDC40 CCDC65 CCNF CCNO CDC45 CDC6 CDT1 CEP120 CFAP221 CFAP298 CFAP300 CFAP410 CFAP74 CFL2 CHAT CHCHD10 CHD7 CHMP2B CHRNA1 CHRNB1 CHRND CHRNE CHRNG CISD2 CLCF1 CLCN6 CLPB CNTN1 CNTNAP1 COA8 COG7 COL11A1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COLQ COQ4 COQ9 COX14 COX6A2 COX7B CPOX CPS1 CPT2 CRLF1 CRYAB CSF2RA CSF2RB CSGALNACT1 CSPP1 CTLA4 CTSD CUL7 CYP27A1 DAG1 DAO DCTN1 DDC DDX3X DES DLK1 DLL3 DMD DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJB4 DNAJC21 DNAL1 DNM1L DNM2 DOK7 DPAGT1 DPM2 DPYD DRC1 DSP DST DTYMK DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYSF DZIP1L ECHS1 EDN3 EFEMP2 EGR2 EMD ENPP1 EPHA4 ERBB3 ERBB4 ERF ERGIC1 EXOSC3 EXOSC8 EXOSC9 FAM20C FARSB FAT4 FBLN5 FBN1 FCSK FGFR1 FGFR2 FGFR3 FHL1 FIG4 FKBP10 FKRP FKTN FLAD1 FLNA FLNB FLNC FOXF1 FOXI1 FOXJ1 FOXRED1 FREM2 FUS G6PC3 GAA GALC GALK1 GARS1 GAS2L2 GAS8 GATA2 GDNF GET3 GFPT1 GFRA1 GGPS1 GIPC1 GLA GLE1 GLI3 GLS GLT8D1 GLUL GLYCTK GMNN GMPPA GMPPB GNB2 GNPTAB GOSR2 GPC3 GPC4 GPX4 GRM7 GSC GTPBP3 HACD1 HADHA HADHB HCCS HCK HES7 HIBCH HLA-B HLA-DPA1 HLA-DPB1 HMBS HNRNPA1 HPDL HRAS HSD3B2 HSPG2 HTRA2 HYDIN HYMAI IBA57 IFIH1 IFNG IFT140 IFT172 IFT80 IFT81 IGHMBP2 INPP5K INPPL1 INVS IRF4 ITGA3 ITGA7 JAK2 JUP KARS1 KAT6A KBTBD13 KCNJ10 KCNJ6 KIAA0753 KIF21A KIF22 KIT KLHL40 KLHL41 KNSTRN LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMP2 LARGE1 LARS2 LBR LBX1 LFNG LIAS LIFR LIG4 LIPT2 LMNA LMOD3 LONP1 LRP12 LRP4 LRP5 LRPPRC LRRC56 LTBP1 LTBP3 LTBP4 LYRM7 MADD MAMLD1 MAP3K20 MARS1 MATR3 MB MCCC1 MCCC2 MCIDAS MCM4 MDFIC MECP2 MED11 MED12 MEG3 MEGF10 MESP2 MFN2 MGME1 MICOS13 MLYCD MORC2 MPL MPZ MRPS14 MT-ND1 MT-ND2 MT-ND3 MT-TE MT-TL1 MT-TL2 MT-TN MT-TS1 MT-TT MTFMT MTM1 MTMR14 MTTP MUSK MYBPC1 MYD88 MYF6 MYH11 MYH3 MYH7 MYL1 MYL2 MYMK MYO1H MYO9A MYOD1 MYOT MYPN NALCN NAXE NBN NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEFH NEK1 NEK10 NFASC NFS1 NFU1 NHLRC2 NKX2-1 NME5 NME8 NOTCH2NLC NPC2 NPHS1 NR1H4 NSF NSUN2 NUBPL NUP188 NUP214 NUP88 NUTM2B-AS1 OAS1 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OPTN ORAI1 ORC1 ORC4 ORC6 OSTM1 PAX2 PAX7 PBX1 PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PHOX2B PHYH PIEZO2 PIGA PIK3CD PIP5K1C PKHD1 PLAA PLAGL1 PLCB3 PLEC PLEKHG5 PLOD1 PLOD2 PLP1 PLPBP PMP22 POGLUT1 POLG POLG2 POLR1B POLR1C POLR1D POMK POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRDM13 PRIM1 PRKCSH PRPH PRPS1 PRTN3 PRUNE1 PSAP PTCD3 PTPN22 PURA RALGAPA1 RAPSN REN RFT1 RILPL1 RIPPLY2 RMND1 RMRP RNASEH1 RNASEH2A RNF168 RNU4ATAC RPGR RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RTL1 RUNX2 RYR1 SARS2 SBDS SBF2 SCN4A SCYL2 SEC63 SELENON SEMA3E SEPTIN9 SF3B4 SFTPB SFTPC SH3TC2 SHPK SLC18A3 SLC19A3 SLC25A1 SLC25A20 SLC25A24 SLC25A26 SLC25A3 SLC25A4 SLC25A46 SLC26A2 SLC26A4 SLC27A4 SLC2A10 SLC30A9 SLC34A2 SLC52A2 SLC52A3 SLC5A7 SLC6A5 SLC6A9 SLC7A7 SMAD4 SMN1 SMPD1 SMPD4 SMPX SNAP25 SNRPB SOD1 SON SOX9 SPAG1 SPEF2 SPEG SPG11 SPOP SPTLC1 SQSTM1 SRP54 STAC3 STAT2 STIM1 STK36 STRA6 SUCLA2 SUCLG1 SURF1 SYNE1 SYNE2 SYT2 TAF15 TARDBP TBCD TBCK TBK1 TCOF1 TET2 TFG TICAM1 TIMMDC1 TK2 TLR3 TMEM126B TMEM231 TMEM43 TMEM70 TNNT1 TNPO3 TOR1A TPI1 TPM2 TPM3 TRAF3 TRAF7 TRAPPC11 TREM2 TRIM2 TRIP4 TRMU TRPV4 TSC1 TSC2 TSEN54 TSFM TSPYL1 TTC12 TTC21B TTN TUBA1A TUFM TWNK TXNDC15 UBA1 UBE3B UBQLN2 UFM1 UNC13A UNC93B1 USP18 VAMP1 VAPB VARS2 VCP VMA21 VRK1 WDR19 WDR35 WFS1 WT1 XYLT1 YARS2 ZC4H2 ZMYND10 ZNF148 HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE CCDC65 CFAP298 DNAAF11 DNAAF5 HYDIN ODAD1 ODAD2 ODAD3 SPAG1 ZMYND10 HP_RESPIRATORY_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_PARALYSIS ALAD CACNA1S CPOX GABRA3 HMBS KCNE3 KCNJ18 PPOX SCN4A HP_RESPIRATORY_TRACT_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_TRACT_INFECTION AARS1 AASS ABCA12 ABCA3 ACADVL ACP5 ACTA1 ACTC1 ACTN4 ADA ADA2 ADAMTS3 ADNP AFF4 AGA AGR2 AGRN AICDA AK2 ALB ALDH18A1 ALG12 ALMS1 ALOX12B ALOXE3 ALPL ANKFY1 ANLN AP3B1 AP3D1 APOL1 ARHGAP24 ARHGDIA ARHGEF1 ARID1A ARID1B ARID2 ARPC1B ARSB ARSL ASAH1 ASPRV1 ASXL1 ATM ATP6V0A1 ATP6V0A2 ATP6V1B2 B2M B3GALT6 BACH2 BAZ1B BCL10 BCL7B BCR BIRC3 BLM BLNK BTK BUD23 C1QB C3 C4B CACNA1B CACNA1C CARD10 CARD11 CARMIL2 CARS1 CASP8 CAVIN1 CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC65 CCNO CD19 CD247 CD27 CD2AP CD3D CD3E CD3G CD4 CD40LG CD55 CD79A CD79B CD81 CD8A CDCA7 CDON CEACAM3 CEACAM6 CFAP221 CFAP298 CFAP300 CFAP410 CFAP74 CFB CFI CFTR CHAMP1 CHAT CHD7 CHRM3 CIITA CITED2 CLCA4 CLCN7 CLEC7A CLIP2 CLPB COG4 COG6 COL11A2 COL13A1 COL4A3 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COQ8B CORO1A CPLX1 CR2 CRB2 CREBBP CRKL CRLF1 CSF2RA CSF2RB CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNBL1 CTPS1 CTSC CXCR4 CYBA CYBB CYBC1 CYP4F22 DAAM2 DCLRE1C DCTN4 DDR2 DDX59 DIP2B DISP1 DKC1 DLL1 DLL3 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH7 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNMT3B DOCK2 DOCK8 DPF2 DPM2 DPP9 DPYSL5 DRC1 DSG1 DYM DYNC2I2 DZIP1L ECM1 EDA EDARADD EDNRA EFEMP2 EFL1 EGFR EHMT1 EIF4H ELANE ELF4 ELN ELP1 EMP2 EP300 EPG5 EPM2A ERCC2 ERCC3 ERCC6 ERF EXOSC9 EXTL3 FANCF FAT4 FBLN5 FBXO28 FBXW7 FCGR2A FCGR3A FCGR3B FCHO1 FCN3 FCSK FGF8 FGFR1 FIG4 FKBP6 FLI1 FLNA FLNC FMO3 FOCAD FOXH1 FOXJ1 FOXN1 FOXP1 FOXP2 FOXP3 FUCA1 FUT8 G6PC3 GAA GALNS GAPVD1 GAS1 GAS2L2 GAS8 GATA2 GATA4 GATA6 GBA1 GCLC GEMIN4 GFI1 GFM2 GIPC1 GLB1 GLI2 GLI3 GLUL GMNN GNPTAB GNS GORAB GRHL3 GRIA1 GSN GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C3 H4C5 HACD1 HCK HELLS HERC2 HFE HGSNAT HK1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMOX1 HPS6 HYDIN HYOU1 ICOS IDH1 IDS IDUA IER3IP1 IFIH1 IFNG IFNGR1 IFT122 IFT140 IGBP1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IL10RB IL12RB1 IL17F IL17RA IL17RC IL21 IL21R IL2RA IL2RB IL2RG IL6R IL6ST IL7R INF2 INPPL1 IRAK4 IRF2BP2 IRF8 ITCH ITGA3 ITGA7 IVNS1ABP JAGN1 JAK3 KANSL1 KAT6A KAT6B KATNIP KCNJ6 KCNN4 KDM5C KDM6A KIAA0586 KIF1A KIF20A KMT2D KNSTRN KPTN KRAS KRT5 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMTOR2 LAT LCK LEP LEPR LETM1 LIG1 LIG4 LIMK1 LIPN LMNB1 LONP1 LRBA LRIF1 LRP12 LRRC56 LRRC8A LTBP1 LTBP3 LTBP4 LYST MAGEL2 MAGI2 MAGT1 MALT1 MAN2B1 MANBA MAP3K20 MAPK1 MARS2 MASP2 MBTPS2 MCIDAS MCM4 MDFIC MDM4 MECP2 MED25 MEGF10 MESP2 METTL27 MGAT2 MGP MID1 MIF MIR140 MKRN3 MLXIPL MPLKIP MS4A1 MSN MTHFD1 MTM1 MYH3 MYH6 MYL2 MYL9 MYO1E MYO1H MYO5A MYO9A MYOD1 MYPN MYSM1 NADK2 NAE1 NAGLU NBN NCF1 NCF2 NCF4 NDN NDUFA6 NDUFC2 NECTIN1 NEK10 NELFA NEPRO NEU1 NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NGLY1 NHLRC1 NHLRC2 NHP2 NIPAL4 NIPBL NKX2-1 NKX2-5 NME5 NME8 NODAL NOP10 NOS1 NOTCH2 NOTCH2NLC NPAP1 NPHS1 NPHS2 NPM1 NRAS NSD2 NTRK1 NUP107 NUP133 NUP160 NUP205 NUP214 NUP37 NUP85 NUP93 NXN OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORC6 OSTM1 P4HA2 P4HTM PAFAH1B1 PAK2 PANK2 PARN PAX2 PCGF2 PCNT PDHA1 PEPD PET117 PEX13 PEX5 PGM3 PHIP PIGA PIGG PIGN PIK3CD PIK3CG PIK3R1 PKHD1 PKP1 PLA2G6 PLCE1 PLCG2 PLCH1 PLEC PLG PLOD1 PLP1 PLVAP PMM2 PNP POLA1 POLE POLR2A POLR3A PPP1R21 PRKCD PRKDC PRPS1 PRTN3 PSAP PSMB8 PTCD3 PTCH1 PTEN PTPN22 PTPRO PURA PWAR1 PWRN1 PYROXD1 RAB3GAP2 RAC1 RAC2 RAG1 RAG2 RANBP2 RAPSN RASGRP1 REEP1 REL RELB RFC2 RFT1 RFX5 RFX7 RFXANK RFXAP RILPL1 RIPK1 RMRP RNF113A RNF125 RNF168 RNU4ATAC ROR2 RPGR RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RUNX2 RYR1 SAMD9 SAMD9L SASH3 SATB1 SBDS SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDCCAG8 SDHD SDR9C7 SELENON SERPINA1 SERPINH1 SETBP1 SFTPB SFTPC SGCG SGSH SH2D1A SH3KBP1 SHH SHROOM4 SIAH1 SIK1 SIM1 SIX3 SLC11A1 SLC12A6 SLC18A3 SLC1A4 SLC25A1 SLC25A22 SLC25A24 SLC26A2 SLC26A9 SLC29A3 SLC34A2 SLC35A1 SLC35C1 SLC37A4 SLC39A7 SLC41A1 SLC46A1 SLC52A3 SLC5A7 SLC6A14 SLC9A3 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMN1 SMPD1 SNAP25 SNAP29 SNORD115-1 SNORD116-1 SNRPN SNX10 SOCS1 SOX11 SOX4 SOX9 SP110 SPAG1 SPEF2 SPI1 SPINK5 SPTBN4 SREBF1 SRP19 SRP54 STAG2 STAT1 STAT3 STIL STING1 STK36 STK4 STX1A STX3 STXBP2 SUCLG1 SULT2B1 SYK SYT2 TAF1 TAFAZZIN TAOK1 TAP1 TAP2 TAPBP TARS1 TASP1 TBC1D23 TBC1D24 TBC1D8B TBCD TBCE TBL2 TBX1 TBX20 TBX6 TCEAL1 TCF3 TCIRG1 TCTN3 TDGF1 TECPR2 TERC TERT TET2 TFG TFRC TGFB1 TGIF1 TGM1 TIMM8A TIMMDC1 TINF2 TK2 TLL1 TMCO1 TMEM270 TMEM94 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF11 TNFSF12 TNNI3 TNNT2 TOM1 TONSL TP73 TPM2 TPM3 TPP2 TRAC TRAF3IP1 TRAF3IP2 TRAIP TREX1 TRIM37 TRIP11 TRIP4 TRPC6 TRPS1 TSC1 TSC2 TTC12 TTC26 TTC7A TYK2 TYMS UBA2 UBB UBE2A UFC1 UGP2 UMPS UNC119 UNG UQCRH USB1 USP26 USP9X VAMP1 VARS1 VPS33A VPS35L VPS37D VPS51 WAC WAS WASHC5 WDR1 WDR19 WDR35 WIPF1 WRAP53 WT1 XIAP ZAP70 ZBTB24 ZBTB7A ZIC2 ZMYND10 ZNF341 ZNF668 ZNF699 ZNFX1 ZNHIT3 HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION ALG14 ALG2 COLQ DPAGT1 GFPT1 GMPPB LAMB2 HP_RESTING_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTING_TREMOR ADCY5 ADH1C ALDH18A1 ATP13A2 ATP1A3 ATP6AP2 ATXN2 ATXN8OS CACNA1G CDKL5 CHCHD2 COQ2 CYP27A1 DNAJC13 DNAJC6 DNMT1 EIF4G1 FMR1 FTL GABBR2 GBA1 GCH1 GIGYF2 GLUD2 KCNN2 LRRK2 MAN1B1 MAPT MECP2 MICU1 MT-TT NR4A2 NTNG1 OPA3 PARK7 PINK1 PLA2G6 PODXL POLG POLG2 PSAP RAB39B RRM2B SLC25A4 SMC1A SNCA SNCAIP SYNJ1 TAF1 TBP TTC19 TWNK UQCRC1 VPS13A VPS13C VPS35 HP_RESTLESSNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESSNESS ABCA7 ABCC8 ACAT1 ADA2 ADCY5 AFF2 ALAD ALDH7A1 AMT ANG ANXA11 APP ATP6V0A1 ATXN2 BRAT1 CACNA1A CCNF CDKL5 CFAP410 CHCHD10 CHMP2B CLCN3 CLN8 COX10 CTNNB1 CYP27A1 DAO DCDC2 DCTN1 DCX DEAF1 DNAJC13 DNAJC6 DNM1L ECE1 EIF2S3 EIF4G1 EPHA4 ERBB4 FGF12 FIG4 FUS GABBR2 GBA1 GIGYF2 GLDC GLE1 GLS GLT8D1 GNAS GNS GRN H4C5 HMBS HNF1A HNF4A HNRNPA1 HPD HSD17B10 HTRA2 HTT IGF1R KCNJ11 KDM5C KIF11 LRRK2 LSS MAPT MATR3 MECP2 MED13L NAGS NAXE NDST1 NEFH NEK1 NGLY1 NTNG1 OPTN PAK3 PARK7 PDE11A PFN1 PINK1 PLPBP PODXL PON1 PON2 PON3 PPARGC1A PRKAR1A PRKN PRNP PRPH PSEN1 PSEN2 PTS RNF13 SATB1 SATB2 SLC19A3 SLC25A13 SLC2A3 SMC1A SNCA SOD1 SORL1 SPAST SPTBN1 SQSTM1 SRCAP SUOX SYNJ1 TAF15 TARDBP TBK1 TMEM106B TMEM67 TOMM40 TRANK1 TREM2 TSEN54 TSHR UBQLN2 UCHL1 UCP2 UNC13A UQCRQ VAPB VCP VPS13C VPS35 WAC ZBTB20 HP_RESTLESS_LEGS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESS_LEGS ATXN7 CHCHD2 DNAJC6 FTL HTRA2 LRRK2 MFN2 NEFL PARK7 PINK1 PODXL PRKN SNCA SYNJ1 UCHL1 VPS13C HP_RESTRICTED_OR_REPETITIVE_BEHAVIORS_OR_INTERESTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTED_OR_REPETITIVE_BEHAVIORS_OR_INTERESTS ADCY5 ADGRL1 ADGRV1 ADNP AFF2 AFF3 AGO1 ALKBH8 ANK3 AP1G1 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 ARID1B ARID2 ARPC4 ASH1L ASXL3 ATG7 ATP9A ATRX AUTS2 BAZ1B BCL11A BCL7B BCORL1 BCR BICRA BRAF BRD4 BUD23 CABP4 CACNA1B CACNA1H CACNA2D1 CAMK2B CAMTA1 CARS1 CASZ1 CCNK CDK19 CDKL5 CELF2 CEP152 CEP85L CERT1 CHAMP1 CHD1 CHD3 CHD5 CHD7 CHD8 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CLCN3 CLCN4 CLIP2 CLN5 CNTNAP2 COASY CPLX1 CRB1 CREBBP CRH CRKL CSNK2A1 CTBP1 CUX2 DDC DDX6 DEAF1 DEPDC5 DHPS DHX30 DLL1 DMPK DNAJC19 DNAJC30 DOCK7 DPAGT1 DPF2 DPYSL5 DRD2 DYRK1A EBF3 EEF1A2 EHMT1 EIF4H ELN ELP2 EMC10 EP300 EXT2 EXTL3 FBXO28 FBXW11 FGFRL1 FKBP6 FLCN FLII FMO3 FMR1 FOXG1 FOXP1 GABBR2 GABRA1 GABRB3 GABRD GABRG2 GATAD2B GCH1 GJA5 GJA8 GLYCTK GNAI1 GNB1 GNB2 GRIA1 GRIA2 GRIK2 GRIN1 GRIN2A GRN GTF2I GTF2IRD1 GTF2IRD2 GUCY2D H4C5 HCN1 HDAC4 HDAC8 HDC HECW2 HERC2 HNRNPH2 HNRNPK HNRNPR HSPG2 HTR2A HTT HUWE1 IFNG IMPDH2 IQSEC2 JARID2 JRK KAT5 KAT6A KCNAB2 KCNB1 KCNN2 KCNT1 KCTD17 KDM4B KIF15 KIF5C KMT2A KMT5B KPTN KYNU LARP7 LETM1 LIMK1 LMNB1 LUZP1 MACF1 MADD MAGEL2 MAP1B MAPK1 MAPK8IP3 MAPT MBD5 MECP2 MED12 MEF2C METTL27 MGAT2 MLXIPL MMP23B NAA10 NAA15 NAA20 NACC1 NAGS NAPB NARS1 NAT8L NCF1 NDN NDP NEXMIF NFIA NIPBL NKX2-1 NLGN1 NLGN3 NLGN4X NMNAT1 NOVA2 NPC2 NR2F1 NR4A2 NSD2 NTNG1 NTNG2 NTRK2 OCA2 OCRL OPHN1 PACS2 PAH PANK2 PCDH19 PDE2A PDGFB PDPN PDZD8 PGAP1 PGAP3 PIGF PITRM1 POGZ POLA1 PPM1D PPP2CA PPP2R5D PRDM16 PRKAR1B PRKCZ PRODH PSEN1 PTCHD1 PUF60 PUS7 RAB11B RAB39B RAC1 RAD21 RAI1 RBL2 RERE RFC2 RFX7 RHOBTB2 RPE65 RTTN SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SEMA3E SETD5 SGCE SH2B1 SHANK3 SHMT2 SIK1 SIN3A SIN3B SKI SLC1A4 SLC2A1 SLC2A3 SLC35C1 SLC45A1 SLC6A4 SLC6A8 SLC9A6 SLITRK1 SLITRK2 SMARCA2 SMC1A SMC3 SNRPN SOX5 SPATA5 SPEN SPTBN1 SQSTM1 SRCAP STX1A STX1B SVBP SYNGAP1 SYT1 TANC2 TAOK1 TARDBP TBC1D23 TBCD TBL2 TBR1 TBX1 TCEAL1 TCF20 TCF4 TFE3 THOC2 TIAM1 TKT TLK2 TMEM106B TMEM222 TMEM270 TMEM67 TOR1A TPR TRANK1 TRAPPC6B TRAPPC9 TREM2 TRIM8 TRIO TRRAP TSC1 TSC2 TTC19 TTI2 TUBB3 TULP1 UBE2A UBE3A UBE4B USP7 USP9X VAMP2 VARS1 VCP VPS13A VPS16 VPS37D WDR26 WDR4 XK YME1L1 YWHAG ZBTB18 ZBTB20 ZEB2 ZMYM2 ZNF526 ZSWIM6 HP_RESTRICTIVE_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_BEHAVIOR CDKL5 CHMP2B GABBR2 GRN MAPT MECP2 NLGN3 NLGN4X NTNG1 PSEN1 SMC1A SNRPN SPTBN1 SQSTM1 TMEM106B TREM2 VCP HP_RESTRICTIVE_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_CARDIOMYOPATHY ABCC6 ACTC1 ANK1 BAG3 CENPE DES ENPP1 EPB42 FLNA KIF20A MCM10 MYL2 MYL3 PDGFRA PIGT SLC4A1 SPTA1 SPTB TNNI3 TNNT2 TTR XYLT1 XYLT2 HP_RESTRICTIVE_VENTILATORY_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_VENTILATORY_DEFECT ACP5 AGRN AK9 ALMS1 ARSB B3GALT6 BAG3 BICD2 BTNL2 CD19 CD81 CFAP410 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COL2A1 COPA CR2 CSF2RA CSF2RB CTLA4 DDR2 DKC1 DLK1 DMD DNAH11 DNASE1L3 DOK7 ENG FAM111B FARSA FGFR3 FKRP FLNB FRG1 GALNS GDAP1 GIPC1 GLB1 GNPTAB HCK HES7 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HPS1 HPS4 ICOS IDS IKZF1 IRF2BP2 LRP12 LRP4 MEG3 MEGF10 MESP2 MS4A1 MT-TL1 MT-TL2 MT-TN MT-TS1 MUSK MYH7 MYO1H NAA10 NFKB1 NFKB2 NKX2-1 NLRP3 NOTCH2NLC PIEZO2 PLOD1 POGLUT1 PRKCD PRTN3 PTPN22 PUS1 PYROXD1 RAPSN RILPL1 RNF168 RNU4ATAC RPA1 RTL1 SCN4A SELENON SFTPA1 SGCG SLC12A6 SLC34A2 STAC3 SYNE1 TNFRSF13B TNFRSF13C TNFSF12 TOR1A TRAPPC11 TSC1 TSC2 TTN WDR19 HP_RETICULAR_HYPERPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULAR_HYPERPIGMENTATION KRT14 NHP2 NOP10 POFUT1 POLA1 PORCN RPA1 TERC TERT TINF2 TP53 USB1 HP_RETICULAR_PATTERN_ON_PULMONARY_HRCT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULAR_PATTERN_ON_PULMONARY_HRCT ABCA3 ATP11A DPP9 DSP FAM13A MUC5B PARN RTEL1 SFTPA1 SFTPA2 SFTPC STN1 TERC TERT HP_RETICULATED_SKIN_PIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULATED_SKIN_PIGMENTATION DKC1 KRT14 KRT5 NHP2 TERT TINF2 HP_RETICULOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOPENIA ADA2 FANCA FANCC FANCD2 FANCE GATA1 HEATR3 IFNG MYSM1 PRF1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS STEAP3 TCN2 TERC TERT TSR2 HP_RETICULOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOSIS ABCB6 ABCG8 ADAMTS13 AMN ANK1 BCL11A CASK CASP10 CDAN1 CDIN1 CFH CFHR1 CFHR3 CLCN7 CPOX CUBN EPB41 EPB42 FAS FASLG G6PD GATA1 GCLC GYPC HBB HBG1 HBG2 HK1 KCNN4 KLF1 MTTP NHLRC2 PFKM PGK1 PIEZO1 PIGA PKLR PRKCD RASGRP1 RHAG RHCE RHD SEC23B SLC2A1 SLC4A1 SPTA1 SPTB UROS HP_RETINAL_ARTERIOLAR_TORTUOSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ARTERIOLAR_TORTUOSITY ANTXR1 ARVCF BAZ1B BCL7B BUD23 CLIP2 COL4A1 COMT DNAJC30 EIF4H ELN FKBP6 FZD4 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA JMJD1C LIMK1 LRP5 METTL27 MLXIPL MT-ATP6 NCF1 NDP RFC2 RREB1 SEC24C STX1A TBL2 TBX1 TMEM270 UFD1 VPS37D HP_RETINAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ATROPHY ABCA4 AIPL1 ALDH3A2 ALMS1 APOE ARL2BP ARSG ASXL1 ATF6 BEST1 C1QTNF5 CA2 CDHR1 CEP78 CFAP418 CFH CFHR1 CFHR3 CFI CNGA3 CNGB3 CNNM4 CRX CTSD CYP4V2 DHX38 DRAM2 EFEMP1 ELOVL4 EPG5 ERCC6 ERCC8 FKRP FKTN GBA1 GNAT2 GUCA1A GUCY2D HGSNAT HK1 HLA-A HMCN1 IDH3A IFT140 IFT43 IMPDH1 IMPG2 INPP5E KCNV2 KIAA1549 LAMA1 LARGE1 LCA5 LRAT LZTFL1 MAPKAPK3 MERTK MFRP MIR204 NMNAT1 NRL OFD1 PCYT1A PDE6C PDE6H PLK4 POMGNT1 POMT1 POMT2 PROM1 PRPF31 PRPF6 PRPH2 RAX2 RBP4 RDH11 RDH5 REEP6 RHO RLBP1 RP9 RPE65 RPGR RS1 SH3BP2 SIX6 SLC24A1 SLC6A6 SLC7A14 SNRNP200 SPATA7 STUB1 TIMP3 TLCD3B TNFRSF11B TOPORS TRNT1 TUB UNC119 VCAN WDR19 YARS1 ZNF408 HP_RETINAL_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_COLOBOMA AHI1 ALDH1A3 B3GLCT C2CD3 CASK CEP120 CEP290 CEP41 CHD7 CLDN19 CRB1 DHX38 FGF3 FIBP HMX1 INPP5E INTS1 KIAA0586 LCA5 LRAT MAN2C1 MKS1 MMACHC NMNAT1 PAX2 PIGL PRPS1 PUF60 RAB18 RAB3GAP1 RAB3GAP2 RPE65 SALL2 SALL4 SPATA7 TBC1D20 TENM3 TFAP2A ZEB2 HP_RETINAL_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DEGENERATION AARS1 ABCA4 ABCC6 ACTL6B AIPL1 ALDH3A2 ALG6 ALMS1 ANO10 AP3B2 APOB APOE ARL2BP ARL6 ARSG ARV1 ASAH1 ASXL1 ATF6 ATP1A2 ATP1A3 ATP6V1A ATXN7 BBS1 BBS2 BBS4 BBS9 BEST1 C1QTNF5 C9 CA2 CACNA1A CACNA1B CACNA2D1 CARS1 CCDC28B CDH3 CDHR1 CDK19 CELF2 CEP164 CEP78 CFAP410 CFAP418 CFH CFHR1 CFHR3 CFI CLCC1 CLN3 CLN5 CLN6 CLTC CNGA3 CNGB1 CNGB3 CNKSR2 CNNM4 COL18A1 COL2A1 CP CRX CST3 CTNNB1 CTSD CWC27 CYFIP2 CYP4V2 DALRD3 DHDDS DHX38 DLAT DNM1 DRAM2 EEF1A2 EFEMP1 ELOVL4 EPG5 ERCC2 ERCC3 ERCC6 ERCC8 FBLN1 FBLN5 FBN2 FBXO28 FGF12 FGF13 FKRP FKTN FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GBA1 GNAT2 GNB5 GNPTAB GRIN2D GRK1 GTF2E2 GTF2H5 GUCA1A GUCA1B GUCY2D HCN1 HGSNAT HK1 HLA-A HMCN1 HSD17B10 HTRA1 IDH3A IDUA IFT140 IFT172 IFT43 IMPDH1 IMPG2 INPP5E KCNA2 KCNB1 KCNJ13 KCNV2 KIAA1549 LAMA1 LARGE1 LCA5 LIG3 LMNA LRAT LZTFL1 MAB21L1 MAN2B1 MAPKAPK3 MCOLN1 MERTK MFRP MIR204 MMACHC MPLKIP MTTP NECAP1 NEK8 NMNAT1 NR2E3 NRL NTRK2 NUS1 OFD1 OPA1 P3H2 PACS2 PAK2 PANK2 PARS2 PAX2 PCYT1A PDE6C PDE6H PEX7 PHYH PISD PITPNM3 PLK4 PNPLA6 POMGNT1 POMK POMT1 POMT2 POU3F4 PPP3CA PPT1 PRCD PROM1 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAX2 RBP4 RDH11 RDH5 REEP6 RHO RLBP1 RNF113A RP1L1 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SCAPER SCN3A SCN8A SDCCAG8 SEMA4A SH3BP2 SIX6 SLC13A5 SLC19A2 SLC1A2 SLC24A1 SLC38A3 SLC6A6 SLC7A14 SNRNP200 SPATA7 SPG11 STUB1 SUMF1 SYNGAP1 SYNJ1 SZT2 TARS1 TIMP3 TLCD3B TMEM67 TNFRSF11B TOPORS TPP1 TRAF3IP1 TRAK1 TRNT1 TTC8 TUB TUBB4B TULP1 UBA5 UNC119 USP45 VCAN WDR19 WRN WWOX XYLT1 XYLT2 YARS1 YWHAG ZFYVE26 ZNF408 ZNF423 ZNF513 HP_RETINAL_DETACHMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DETACHMENT ADAMTSL1 ADAMTSL4 AKT1 ALDH1A3 ALG12 ARL6IP6 ATOH7 B3GALNT2 B4GAT1 BAP1 BCOR BEST1 CACNA1F CAPN5 CBS CCND1 CFH CFI CHRDL1 CHST14 COL11A1 COL11A2 COL18A1 COL2A1 COL4A1 COL9A1 COL9A2 COL9A3 CRPPA CTNNB1 CYP1B1 CYSLTR2 DAG1 DEAF1 DSE DYRK1A EFEMP1 FAS FBN1 FKRP FKTN FLII FRG1 FZD4 GMPPB GNA11 GNAQ GZF1 HLA-A HMX1 IGFBP7 IKBKG IMPG1 IMPG2 IPO8 IQSEC2 KCNJ13 KIF11 LAMB2 LARGE1 LCA5 LOXL3 LRAT LRP2 LRP5 LTBP2 MAF MYOC NDP NHS NRCAM NSMCE2 P3H2 P4HA2 PAK2 PAX2 PAX6 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRDM5 PRPH2 PTEN PTPN22 RAI1 RPE65 RS1 RXYLT1 SETD2 SF3B1 SIX6 SPATA7 TEK TENM3 TRAPPC2 TRPM3 TSPAN12 TUB TUBGCP6 VCAN VHL XRCC4 XYLT2 YAP1 ZNF408 ZNF469 HP_RETINAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSPLASIA B3GALNT2 B4GAT1 COL4A1 COX7B CRPPA DAG1 DNAJC21 FKRP FKTN FLNB FOXE3 HCCS INPP5E KIF11 LARGE1 NDP NDUFB11 PDE6D POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TUBB HP_RETINAL_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSTROPHY ABCA4 ABHD12 ACBD5 ACO2 ACOX1 ADAM9 ADGRV1 AGBL5 AHI1 AHR AIPL1 ALG6 ALMS1 ALPK1 AMACR ANK1 AP3B2 APOB ARL2 ARL2BP ARL3 ARL6 ARMC9 ARV1 ASPA ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATXN2 ATXN7 B3GALNT2 B4GAT1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BEST1 BMP4 CABP4 CACNA1F CACNA2D4 CC2D2A CCDC103 CCDC28B CCDC39 CCDC40 CCDC65 CCNO CCNQ CDH23 CDH3 CDHR1 CEP120 CEP164 CEP290 CEP41 CERKL CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP74 CFH CFI CHST6 CIB2 CLCN3 CLDN19 CLN3 CLRN1 CNGA1 CNGB1 CNNM4 COL4A1 COQ2 COX7B CRB1 CRPPA CRX CRYAB CSPP1 CTNNA1 CTSD CWC27 DAG1 DDR2 DHDDS DHX38 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAJC21 DNAL1 DPAGT1 DRAM2 DRC1 DYNC2I2 EFEMP1 ELOVL4 ERCC6 ERCC8 EXOSC2 EXOSC3 EYS FAM161A FDXR FGFR2 FKRP FKTN FLVCR1 FOXJ1 FSCN2 GAS2L2 GAS8 GATA3 GGCX GNAT1 GNB3 GPR179 GRK1 GRM6 GRN GUCA1A GUCA1B GUCY2D HACE1 HCCS HGSNAT HID1 HK1 HMX1 HSD17B10 HSPD1 HYDIN IDH3B IFT122 IFT140 IFT172 IFT27 IFT74 IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 ITM2B KCNV2 KIAA0586 KIF11 KIF3B KIF5A KIZ KLHL7 LAMA1 LARGE1 LRAT LRIT3 LRP2 LRRC56 LZTFL1 MAK MAPKAPK3 MCIDAS MDH2 MERTK MFSD8 MKKS MKS1 MSRB3 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TK MT-TL1 MT-TV MT-TW MTTP MVK MYO5A MYO6 MYO7A NDUFA1 NDUFA9 NDUFB11 NEK1 NEK10 NEK2 NGLY1 NME5 NME8 NPHP1 NPHP3 NPHP4 NR2E3 NRL NYX ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OTX2 PANK2 PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6G PDE6H PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHYH PIBF1 PITPNM3 PMM2 PNPLA6 POC1B POGZ POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP2R3C PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RAB28 RAX2 RBP3 RBP4 RCBTB1 RDH11 RDH12 RDH5 REEP6 RGR RHO RLBP1 RNF113A RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RXYLT1 SAG SDCCAG8 SEMA4A SH2B1 SIX6 SLC19A2 SLC24A1 SLC35A2 SLC7A14 SNRNP200 SPAG1 SPEF2 SRD5A3 STK36 SYCE1 TELO2 TIMP3 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOPORS TRAF3IP1 TRAPPC9 TRIP13 TRNT1 TRPM1 TTC12 TTC8 TTLL5 TUB TUBGCP6 TULP1 UBE3B UNC119 USH1C USH1G USH2A VPS13B VPS4A WARS2 WDR19 WHRN ZMYND10 ZNF408 ZNF423 ZNF513 ZPR1 HP_RETINAL_EXUDATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_EXUDATE CTC1 FZD4 LRP5 NDP POT1 TINF2 TREX1 TSPAN12 ZNF408 HP_RETINAL_FLECKS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FLECKS BEST1 PLA2G5 PROM1 PRPH2 RDH5 RHO RLBP1 ZFYVE26 HP_RETINAL_FOLD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FOLD ATOH7 CTNNB1 FZD4 KIF11 LRP5 NDP PIEZO2 PRSS56 TSPAN12 TUBGCP6 ZNF408 HP_RETINAL_HAMARTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HAMARTOMA AKT1 CCND1 DLST FH IFNG KIF1B MAX MDH2 NF1 NF2 PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TSC1 TSC2 VHL HP_RETINAL_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HEMORRHAGE ABCC6 APOE ATP6V0A2 ATP6V1A ATP6V1E1 CFH CFHR1 CFHR3 CFI COL4A1 DNM2 DST EFEMP1 ENPP1 ERCC6 ERCC8 GCDH HMCN1 IFNG IKBKG LAMB2 MYD88 PRF1 SBDS TERC TERT TREX1 XYLT1 XYLT2 HP_RETINAL_HOLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HOLE COL2A1 CTNNB1 FZD4 LRP5 NDP ZNF408 HP_RETINAL_NEOVASCULARIZATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NEOVASCULARIZATION BEST1 CAPN5 CTNNB1 FZD4 LRP5 LRRC32 NDP TREX1 TSPAN12 ZNF408 HP_RETINAL_NONATTACHMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NONATTACHMENT AKT1 ATOH7 BEST1 IMPG1 IMPG2 PRPH2 PTEN HP_RETINAL_PERFORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PERFORATION COL2A1 CTNNB1 FZD4 GUCA1A GUCY2D HLA-A LRIT3 LRP5 NDP PRPH2 ZNF408 HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY ABCA4 ALDH3A2 ALMS1 ATF6 BEST1 C1QTNF5 CDHR1 CNGA3 CNGB3 CRX CYP4V2 ELOVL4 GNAT2 IDH3A IFT43 IMPG2 KIAA1549 LCA5 LRAT MFRP OFD1 PDE6C PDE6H PROM1 PRPF6 PRPH2 RDH11 RLBP1 RPE65 RPGR RS1 SNRNP200 SPATA7 TIMP3 TLCD3B TOPORS TRNT1 TUB VCAN ZNF408 HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING ABCA4 ALDH6A1 ATF6 CACNA2D4 CFAP410 CFH CFI CHM CLCN3 CNGA3 CNGB3 CNNM4 CTNS CYP4V2 DHX16 EFEMP1 ELOVL4 ERCC8 GNAT2 GUCA1A GUCY2D IFT52 LCA5 LRAT MT-ATP6 NBN NMNAT1 PDE6C PDE6H PEX1 PISD PITPNM3 POLG PROM1 PRPH2 RDH5 RHO RLBP1 RPE65 RPGR SELENOI SLC6A6 SPATA7 TUBB4B TWNK VPS41 HP_RETINAL_TELANGIECTASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_TELANGIECTASIA ACVRL1 CTC1 CTNNB1 DNAJC30 ENG FRG1 FZD4 GDF2 LRP5 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NDP NDUFS2 PCNA SETD2 SMAD4 STN1 TSPAN12 ZNF408 HP_RETINAL_THINNING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_THINNING ABCA4 ALDH3A2 CABP4 CACNA1F CACNA2D4 CFAP418 CNGA3 CNGB3 COL2A1 CYP4V2 ELOVL4 GNAT1 GNB3 GPR179 GRK1 GRM6 HLA-A KIF3B LAMA1 LRIT3 NYX PCYT1A PDE6B POMGNT1 PROM1 PRPH2 RHO RIMS2 SAG SLC24A1 SLC6A6 TRPM1 HP_RETINAL_VASCULAR_TORTUOSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VASCULAR_TORTUOSITY ANTXR1 ARVCF BAZ1B BCL7B BUD23 CENPF CLIP2 COL4A1 COMT DGCR2 DGCR6 DGCR8 DNAJC30 EIF4H ELN ESS2 ETHE1 FKBP6 FZD4 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIRA IFT172 JMJD1C LAMB2 LIMK1 LRP5 METTL27 MLXIPL MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NCF1 NDP NDUFS2 NEK1 PAX6 RFC2 RREB1 SEC24C SELENOI STX1A TBL2 TBX1 TMEM270 UFD1 VPS37D WT1 HP_RETINAL_VEIN_OCCLUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VEIN_OCCLUSION CYP1B1 EFEMP1 F12 LOXL1 MYOC SERPINC1 HP_RETINOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOPATHY ABCC6 ABCC8 ACD AGXT ALDH3A2 ALG8 AP5Z1 APOE APPL1 ATG7 B9D1 BANK1 BAP1 BCL11A BLK BLM C1QTNF5 C4A C4B CCR1 CDH3 CDK4 CDKN2A CDKN2B CEL CEP41 COL11A1 COX15 CPLX1 CR2 CREBBP CSPP1 CTBP1 CTLA4 CTNS DNASE1 DPM1 ENPP1 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ETS1 FAS FCGR2B FCGR3B FGFR1 GCK GNPTAB HADHA HBB HBG1 HBG2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HNF1A HNF4A IDS IDUA IFNGR1 IGHG1 IL10 IL12A IL12A-AS1 IL12B IL23R INS INSR IRAK1 IRF5 ITGAM JAZF1 KCNJ11 KIAA0319L KIF11 KLF1 KLF11 KLRC4 KRAS LETM1 MAPRE2 MC1R MCOLN1 MECP2 MEFV MFSD8 MGMT MIA3 MITF MLX MT-ATP6 MT-TE MT-TK MT-TL1 MTTP MYO5A NELFA NEU1 NEUROD1 NOD2 NSD2 PANK2 PAX4 PDCD1 PDX1 PEX7 PHYH PIGG PLK4 POT1 PROS1 PRTN3 PRUNE1 PTCH1 PTPN22 PXK SAR1B SPP1 STAT3 STAT4 TERF2IP TERT THSD1 TLR4 TLR7 TMEM107 TMEM231 TNFAIP3 TNFRSF11B TNFSF4 TNIP1 TREX1 TRIM32 TUBB TXN2 UBAC2 UBE2L3 HP_RETINOSCHISIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOSCHISIS ACTB ACTG1 CLCN2 GFPT1 MFRP NR2E3 OAT RS1 HP_RETROBULBAR_OPTIC_NEURITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROBULBAR_OPTIC_NEURITIS C4A CCR1 ERAP1 FAS HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV NLRP3 NOD2 PRORP STAT4 TLR4 UBAC2 HP_RETROCEREBELLAR_CYST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCEREBELLAR_CYST AHDC1 DOCK6 GRIA3 GRM1 OPHN1 PDGFRB SNX14 TMTC3 ZSWIM6 HP_RETROCOLLIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCOLLIS ALS2 FUS KMT2B MAPT PRKRA SIGMAR1 SPG11 SPTLC1 HP_RETROGNATHIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROGNATHIA AARS1 ABAT ACTA1 ACTA2 ACTB ACTG1 ADAMTS2 ADAMTS3 ADAMTSL2 AGRN ALG11 ALG13 ALG9 AMER1 AP3D1 ARCN1 ARID1B ARID2 ARNT2 ASPH ASXL1 ASXL2 ASXL3 ATG7 ATP6V0A2 ATP6V1A ATPAF2 AUTS2 B3GAT3 BANF1 BCL11A BIN1 BLM BMP4 BNC2 BRCC3 C2CD3 CA2 CANT1 CARS1 CBL CCBE1 CCDC88A CDC45 CDC6 CDT1 CENPJ CEP120 CEP135 CEP152 CEP55 CHAT CHST14 CHST3 CNTNAP1 COG5 COG6 COG7 COL13A1 COL1A1 COL1A2 COL2A1 COL3A1 COX7B CREB3L1 CREBBP CRIPT CRLF1 CRPPA CSGALNACT1 CTBP1 CTNND2 CTU2 DDB1 DGCR2 DGCR6 DGCR8 DHCR24 DHCR7 DIS3L2 DLK1 DPYD DSE DSTYK DVL1 DVL3 DYRK1A EBP EDEM3 EDN1 EED EIF4A3 ELN EMC1 EP300 ERCC2 ERCC3 ERF ESS2 EXOC7 EXOSC1 EXOSC5 EYA1 EZH2 FAM20C FANCB FARS2 FAT4 FBN1 FBXL3 FBXO31 FBXW11 FDFT1 FHL1 FOXE1 FOXE3 FOXF1 FOXP1 FRA10AC1 FRMPD4 FTO FUT8 FZD2 GABRA3 GAD1 GBA1 GLDN GLE1 GLI3 GMNN GTF2E2 GTF2H5 H4C3 H4C5 HBA1 HBA2 HCCS HDAC8 HECTD4 HEY2 HNRNPH1 HNRNPK HPDL HS2ST1 HSD17B4 HYLS1 HYMAI IBA57 IDH1 IGBP1 IGF1R IGF2 INTS1 INTU IPO8 ITGA8 JARID2 KAT6A KAT6B KATNB1 KCNK9 KIF15 KIF26A KIF7 KMT2B KPTN LBR LGI4 LMNA LOX LTBP4 MADD MAGEL2 MAMLD1 MAPKAPK5 MAT2A MBD5 MED25 MEG3 MEGF8 MESD MFAP5 MGAT2 MIA3 MOGS MPLKIP MRPS22 MSL3 MTM1 MYH11 MYH7 MYL11 MYLK MYMK MYO9A NAA10 NARS1 NBN NDE1 NDUFB11 NEDD4L NEPRO NFIX NR2F1 NSD1 NSDHL NSMCE2 NUDT2 NUP188 NUP88 OCLN ODC1 OFD1 ORC1 ORC4 ORC6 OTUD5 OTUD6B PAX1 PCNT PDGFRB PIEZO2 PIGN PIK3C2A PLAGL1 PMM2 POLA1 POLR1A POLR1B POLR1C POLR1D POLR3A PPP3CA PRDM13 PREPL PRKG1 PRMT7 PRORP PRR12 PSMD12 PUF60 PUS7 RARB RBBP8 RELN RNF113A RNU4ATAC ROR2 RPL10 RPL5 RPS19 RSPO2 RSRC1 RTL1 RTTN RYR1 SCN4A SCNM1 SEC24D SELENON SEMA5A SETBP1 SETD2 SF3B4 SIM1 SIN3A SIX1 SIX5 SKI SLC10A7 SLC18A3 SLC25A1 SLC25A24 SLC29A3 SLC35A3 SLC35B2 SLC3A1 SLC5A7 SLC6A9 SMAD2 SMAD3 SMAD4 SMC1A SMOC1 SNAP25 SNRPN SPATA5 SPEG SPEN SRCAP SUZ12 SYT2 TAF1 TARS1 TASP1 TBX1 TCOF1 TCTN3 TELO2 TGFB2 TGFB3 TGFBR1 TGFBR2 THOC6 THSD4 TMEM107 TMEM70 TNPO2 TPM2 TRIO TRIP11 TRIP4 TTN TUBA1A TXNDC15 UBA2 UBE3B USB1 VAMP1 WBP11 WDR11 WDR35 WNT5A YARS1 ZBTB24 ZC4H2 ZMPSTE24 ZNF699 ZNHIT3 HP_RHABDOMYOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOLYSIS ACADVL ALDOA AMACR AMPD1 ANO5 ATP5F1D BCS1L CACNA1S CLCNKB CPT2 CTDP1 DGUOK FDX2 GABRA3 HADHA HADHB ISCU KCNJ18 LDHA LPIN1 MLIP MT-CO1 MT-CO3 OBSCN PGAM2 PGK1 PGM1 PHKB POLG PYGM RYR1 SEPSECS SLC12A3 SLC25A20 SLC25A42 SUCLG1 TANGO2 TNNT1 TRAPPC2L TSEN15 TSEN2 TSEN34 TSEN54 TSFM XK HP_RHABDOMYOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOMA IFNG PTCH1 SOX6 TSC1 TSC2 HP_RHEGMATOGENOUS_RETINAL_DETACHMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEGMATOGENOUS_RETINAL_DETACHMENT COL2A1 CTNNB1 FZD4 LCA5 LRAT LRP5 NDP RPE65 SPATA7 TSPAN12 ZNF408 HP_RHEUMATOID_ARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_ARTHRITIS ACP5 ANKRD55 CD244 CD247 CIITA DCLRE1C GCH1 HLA-DRB1 IGHG2 IGKC IL10 IL2RA IL2RB IL6 IMPDH2 LACC1 MIF NFKBIL1 NR4A2 PTPN2 PTPN22 SLC22A4 STAT4 HP_RHEUMATOID_FACTOR_POSITIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_FACTOR_POSITIVE C1QB CARD10 CASP10 CCN6 CD244 CIITA CYBC1 FAS FASLG HLA-B IFNGR1 IL10 NFKBIL1 PGM3 PRKCD PTPN22 RASGRP1 RIPK1 SLC22A4 STING1 HP_RHINITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHINITIS ALG12 BLM CARMIL2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDSN CFAP221 CFAP298 CFAP300 CFAP74 CIITA CLCN7 CLPB COX4I2 CPN1 DBH DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EDA EDARADD ELANE FOXJ1 GAS2L2 GAS8 GFI1 HYDIN IDUA IGHG2 IGKC IL21R IL4R KRT74 LRRC56 MCIDAS MS4A2 NEK10 NLRP1 NME5 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PGM3 PLA2G7 PLCG2 RAG1 RAG2 RFX5 RFXANK RFXAP RPGR RSPH1 RSPH3 RSPH4A RSPH9 SASH3 SIK3 SLC27A4 SLC29A3 SNX10 SPAG1 SPEF2 SPINK5 SRP19 SRP54 STK36 TCIRG1 TNFSF11 TTC12 ZMYND10 ZNF699 HP_RHINORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHINORRHEA CCDC39 CCDC40 DNAH1 LRRC56 ODAD1 SCN9A SDHD SREBF1 HP_RHIZOMELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIA ACAN AGPS ALG12 ALG9 ARCN1 ASXL1 B3GAT3 B3GLCT CEP120 CEP57 CFAP410 CHST3 CLPB COG1 COL11A1 COL2A1 CREB3L1 CRTAP CSPP1 CTSK DHCR24 DHCR7 DVL1 DYM EBP FGFR1 FGFR2 FGFR3 FLNB FZD2 GDF5 GNPAT GPC6 GPX4 GSC HDAC6 IFT122 IFT140 IFT43 IFT52 IFT80 INPPL1 KIAA0586 KMT2A KYNU LBR MAB21L2 MBTPS2 MMP13 MTOR MYSM1 PCYT1A PEX7 PKDCC POC1A PRKG2 PTH1R RMRP SERPINH1 SHOX SIK3 SLC26A2 TBX15 TONSL WDR19 WDR35 WNT5A HP_RHIZOMELIC_ARM_SHORTENING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIC_ARM_SHORTENING COL2A1 CSPP1 DYM FGFR2 FZD2 GPX4 KIAA0586 MYSM1 SLC26A2 HP_RIB_FUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_FUSION ACTB ANKRD11 CASZ1 CHRNG COG1 CPLX1 CTBP1 DLL3 FGFRL1 FOXF1 GABRD GLI3 HES7 HSPG2 KCNAB2 LETM1 LFNG LUZP1 MAP3K7 MESP2 MMP23B MYH3 NELFA NSD2 NXN ODC1 PDPN PIGG PRDM16 PRKCZ RECQL4 RERE RIPPLY2 ROR2 SH2B1 SIX6 SKI SON SOX2 SPEN TBX6 TMCO1 UBE4B HP_RIB_SEGMENTATION_ABNORMALITIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_SEGMENTATION_ABNORMALITIES CPLX1 CTBP1 DLL3 FGFRL1 HES7 LETM1 LFNG MESP2 NELFA NSD2 PIGG RIPPLY2 HP_RICKETS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RICKETS ABCC6 ADAMTS2 ADAMTSL2 AKR1D1 ALPL ATP6V0A4 ATP7A ATP8B1 BAAT CLCN5 CTNS CYP27B1 CYP2R1 DMP1 EHHADH ENPP1 FAH FARSB FGF23 GATM HLA-DQA1 HLA-DQB1 HNF4A HRAS HSD3B7 KRAS NAB2 NDUFAF6 NRAS OCRL PHEX POLRMT RNU4ATAC RRM2B SLC2A2 SLC34A1 SLC34A3 SLC4A1 STAT6 TJP2 VDR HP_RIDGED_FINGERNAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_FINGERNAIL DVL1 DVL3 EFNB1 FZD2 IKBKG MSX1 SLC39A4 TINF2 WNT5A HP_RIDGED_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_NAIL AARS1 ATP2A2 ATR CARS1 CTSK DKC1 EDAR EDARADD EFNB1 ERCC2 ERCC3 FERMT1 FOXN1 GJA1 GTF2E2 GTF2H5 IKBKG KRT14 LMX1B LPAR6 MPLKIP MSX1 PORCN RNF113A SLC39A4 TARS1 TERC TERT TINF2 WNT10A HP_RIEGER_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIEGER_ANOMALY ADAMTSL1 CPLX1 CTBP1 FGFRL1 FOXC1 IGF1R LAMB2 LETM1 NSD2 PAX6 PIK3R1 PITX2 HP_RIGHT_AORTIC_ARCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH ACVR2B CFAP53 CHD7 CIROP CRELD1 DGCR2 DGCR6 DGCR8 DNAH1 DNAH9 ESS2 FLT4 GDF1 MMP21 NKX2-6 PKD1L1 PLXND1 SF3B2 STRA6 TBX1 TMEM260 TTC26 WDR26 WT1 HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING CRELD1 DGCR2 DGCR6 DGCR8 ESS2 STRA6 TBX1 HP_RIGHT_ATRIAL_ENLARGEMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_ATRIAL_ENLARGEMENT ABCC6 ACTC1 AGR2 BANF1 CITED2 FLNA FLNC GATA4 GATA6 KIF20A MCM10 MPDZ MYBPC3 MYH6 MYL2 MYPN NKX2-5 NOTCH1 RPL3L TBX20 TLL1 TNNI3 TNNT2 HP_RIGHT_BUNDLE_BRANCH_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_BUNDLE_BRANCH_BLOCK ABCC9 ACTC1 AKAP9 ATP6V1A ATP6V1E1 BANF1 CACNA1C CACNA2D1 CACNB2 CITED2 CNBP DSG2 DYSF EXOSC5 FHL1 FLNC GNAI2 GPD1L GYG1 HCN4 JUP KCND3 KCNE3 KCNE5 KCNJ8 KCNK3 LEMD2 LMOD2 MT-CYB MYBPC3 MYH6 MYH7 NPPA PIGU PKP2 PLEC POMT2 PPP1CB RANGRF RNASEH1 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TLL1 TNNC1 TNNI3K TNNT2 TRPM4 HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY DSC2 DSG2 DSP JUP PKP2 TGFB3 TMEM43 HP_RIGHT_VENTRICULAR_DILATATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_DILATATION ACTC1 ALG9 CDH2 CITED2 CTNNA3 FNIP1 GATA4 GATA6 IPO8 MYH6 NKX2-5 SCN5A SGCG TBX20 TLL1 TRAPPC11 HP_RIGHT_VENTRICULAR_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_HYPERTROPHY ALPK3 ATP13A3 BMPR2 COLQ DYSF FOXF1 GPC3 GPC4 GTPBP3 IPO8 KMT2D LAMB2 LTBP4 MYH7 NKX2-6 NONO NOTCH1 NPHP3 PIGN PLXND1 SELENON SFTPB SGCG SLC25A12 STAMBP TTN VIPAS39 VPS33B HP_RIGIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGIDITY AARS1 ABCA12 ACTA1 ACTL6B ADAR ADH1C AFG3L2 AP3B2 ARSA ARV1 ARX ASPA ATAD1 ATL1 ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP6V1A ATP7B ATXN2 ATXN3 ATXN8OS BRAT1 CACNA1A CACNA1B CACNA2D1 CASK CDK19 CELF2 CHCHD2 CHKA CHMP2B CLN3 CLTC CNKSR2 COASY COQ2 COX11 CP CRYAB CSF1R CTSD CYFIP2 DAB1 DALRD3 DCTN1 DDHD1 DDHD2 DHCR24 DHDDS DNAJC13 DNAJC6 DNM1 EEF1A2 EIF2AK2 EIF4G1 FBXO28 FBXO7 FGF12 FGF13 FGFR1 FMR1 FOXRED1 FRRS1L FTL FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAMT GBA1 GCDH GCH1 GFAP GIGYF2 GJC2 GLB1 GLRA1 GLRB GLUD2 GPHN GRIN2D HCN1 HLA-DQB1 HTRA1 HTRA2 HTT IFIH1 IMPDH2 INPP5K ITM2B JAM2 JPH3 KCNA2 KCNA4 KCNB1 KCND3 KCNN2 KIF11 KRAS LDHA LNPK LOXL1 LRRK2 LSM11 MAPT MECP2 MECR MICU1 MME MT-ATP6 MT-TT MYO5A NAXE NDUFAF6 NECAP1 NOTCH2NLC NR4A2 NTRK2 NUP54 NUP62 NUS1 OGDH OPA3 PACS2 PANK2 PARK7 PARS2 PCDH19 PDE8B PDGFB PDGFRB PEX16 PINK1 PLA2G6 PLAA PNKD PODXL POLG POLG2 PPP3CA PRKCG PRKN PRNP PRRT2 PSAP PTCD3 PTS RAB39B RANBP2 REEP2 RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RRM2B RYR1 SAMHD1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEMA6B SIL1 SLC13A5 SLC19A3 SLC1A2 SLC1A3 SLC20A2 SLC25A4 SLC2A3 SLC30A10 SLC38A3 SLC6A3 SLC6A5 SMPD1 SNCA SNCAIP SPR STUB1 SYNGAP1 SYNJ1 SZT2 TAF1 TBP TH TK2 TMEM240 TRAK1 TREX1 TSPOAP1 TUBB4A TWNK UBA5 UBTF UCHL1 UQCRC1 VPS13C VPS35 WDR45 WWOX YWHAG HP_RIMMED_VACUOLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIMMED_VACUOLES ACTA1 ACTN2 ADSS1 ANXA11 CHCHD10 COL12A1 COL6A1 COL6A2 COL6A3 DES DNAJB6 DPM3 DYSF EMD FHL1 GGPS1 GIPC1 GNE HNRNPA1 HNRNPA2B1 HNRNPDL LMNA LRP12 MAP3K20 MATR3 MEGF10 MYH7 NEB NEFH NOTCH2NLC PABPN1 PLIN4 PNPLA2 RILPL1 SIL1 SMN1 SMPX SQSTM1 SYNE1 SYNE2 TCAP TIA1 TMEM43 TNPO3 TTN VCP HP_RING_SCOTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RING_SCOTOMA ARSG FLVCR1 HGSNAT RLBP1 RP2 RPGR TRNT1 HP_ROD_CONE_DYSTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROD_CONE_DYSTROPHY ABCA4 ABHD12 ACBD5 ACOX1 ADGRV1 AGBL5 AHR AIPL1 ALG6 AMACR AP3B2 APOB ARL2 ARL2BP ARL3 ARL6 ASPA ATP2B2 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 ATXN2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BEST1 CC2D2A CCDC103 CCDC28B CCDC39 CCDC40 CCDC65 CCNO CDH23 CDHR1 CEP290 CERKL CFAP221 CFAP298 CFAP300 CFAP410 CFAP418 CFAP74 CIB2 CLDN19 CLN3 CLRN1 CNGA1 CNGB1 COQ2 CRB1 CRX CTSD CWC27 DHDDS DHX38 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DPAGT1 DRC1 DYNC2I2 EXOSC2 EYS FAM161A FDXR FLVCR1 FOXJ1 FSCN2 GAS2L2 GAS8 GATA3 GGCX GNAT1 GRK1 GUCA1B HGSNAT HK1 HMX1 HSD17B10 HSPD1 HYDIN IDH3B IFT140 IFT172 IFT27 IFT74 IMPDH1 IMPG2 IQCB1 KIF3B KIF5A KIZ KLHL7 LRAT LRRC56 LZTFL1 MAK MAPKAPK3 MCIDAS MDH2 MERTK MKKS MKS1 MSRB3 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW MTTP MVK MYO6 MYO7A NDUFA1 NDUFA9 NEK10 NEK2 NME5 NME8 NPHP4 NR2E3 NRL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PANK2 PCARE PCDH15 PDE6A PDE6B PDE6G PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PMM2 POGZ PPP2R3C PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 RBP3 RDH11 REEP6 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPL10 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 SAG SDCCAG8 SEMA4A SH2B1 SLC35A2 SLC7A14 SNRNP200 SPAG1 SPEF2 SRD5A3 STK36 TELO2 TMEM67 TOPORS TRAF3IP1 TRIP13 TRNT1 TTC12 TTC8 TULP1 USH1C USH1G USH2A WARS2 WDR19 WHRN ZMYND10 ZNF408 ZNF513 HP_ROTARY_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROTARY_NYSTAGMUS ACBD5 ALX4 CLN3 ELOVL1 ERLIN2 GFER GJC2 KCNN2 LYST MKS1 MPC1 MPDZ NPHP4 PLP1 PNPO PPP1R21 PPP2R5D RARS1 SLC16A2 SPTBN2 TELO2 TMEM106B TMEM216 HP_ROUND_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_EAR CEP57 MYH3 NALCN PSMC3 TNNI2 TNNT3 TPM2 HP_ROUND_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_FACE ACTG2 ADAMTSL2 ADARB1 AFF4 AGO1 AKT1 ALMS1 ANKRD11 ARMC5 B3GLCT BRPF1 CACNA1C CANT1 CENPE CHSY1 COL11A1 COL11A2 COL2A1 COL6A1 COL6A2 COL6A3 CPE CRTAP CSGALNACT1 CTNND2 DIS3L2 DNMT3A ECEL1 EED EIF2S3 EXOC8 EZH2 FBN1 FBXO31 FGD1 FIBP GJA5 GJA8 GNAI3 GNAS HDAC4 HOXD13 HRAS IARS1 ITGA3 KAT5 KDM4B KDM6B KIF15 KMT2A LMNA LMX1B LTBP3 MAPK8IP3 MED13L MRPL12 MRPS28 NEDD4L NEXMIF NRAS NSD1 P3H1 PAM16 PDE11A PDE4D PEX1 PEX2 PEX6 PGAP2 PGAP3 PHIP PIGL PIGO PIGV PIGW PIGY PLCB4 PPP1R15B PRKAR1A PRKAR1B PTEN RBL2 RECQL RNU4ATAC SEMA5A SEPTIN9 SH3BP2 SLC10A7 SLC37A4 SMC1A SPECC1L STX16 STXBP1 SUZ12 TAFAZZIN TECPR2 TMEM67 TOR1A TRAPPC9 TRMT10A TTC26 XYLT1 ZBTB18 ZBTB24 HP_SACCADIC_OSCILLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_OSCILLATION ATP1A2 ATP1A3 CACNA1A CLCN7 FRMD5 GBA1 KIF1B SLC1A3 SLC35A2 SLC6A3 SNX10 TCIRG1 TMEM240 TNFSF11 VPS13D HP_SACCADIC_SMOOTH_PURSUIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_SMOOTH_PURSUIT ALS2 ANO10 ATN1 ATP2B3 CACNA1A CACNA1G FMR1 GJB1 KCND3 PIK3R5 PMPCA PRDX3 PRKCG RNF170 RUBCN SCYL1 SETX SPG11 STUB1 TMEM106B TMEM240 TPP1 UCHL1 XRCC1 ZFYVE26 HP_SACROCOCCYGEAL_TERATOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACROCOCCYGEAL_TERATOMA APC2 MNX1 NSD1 SETBP1 SETD2 HP_SAGITTAL_CRANIOSYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SAGITTAL_CRANIOSYNOSTOSIS ATP6V1B2 CDC45 DNMT3A DPF2 DPH1 DPH2 ERF FGFR2 GLIS3 HNRNPK IFT122 IFT43 IL11RA KRAS RAB23 RECQL4 RNU12 SON SPECC1L TBC1D24 TCF12 TWIST1 WDR19 HP_SANDAL_GAP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SANDAL_GAP ABL1 ADNP AEBP1 ALG12 ARID1A ARID1B ATR ATRIP B3GAT3 BCOR BCR BMP2 BPTF CANT1 CENPE CENPJ CEP152 CHST11 CHST3 CILK1 COL11A2 COL1A2 COX7B CREBBP CRKL CTCF CUL4B DCPS DDX59 DNA2 DPM1 DSP EED EFNB1 EP300 ESCO2 EZH2 FBXO11 FBXW11 FLNA FLNB GALNT2 GATA1 GMNN H4C9 HEATR3 HERC2 IFT43 IFT52 IFT57 IGF1R KAT6A LIG4 LTBP4 MAN2C1 MAPK1 MBD5 MEIS2 MTX2 NAA10 NBAS NBN NSD1 NSUN2 NUP85 NXN PCNT PIEZO2 PIK3CA PLK4 PRKG2 RAI1 RBBP8 RFX7 RHOA ROR2 SALL4 SATB1 SETBP1 SETD5 SLC26A2 SMARCA2 SMARCD2 SMARCE1 SMOC1 SUZ12 SVIL TBX4 TCF20 TNNT3 TRAIP TRIO TRIP12 VPS13B YY1 HP_SARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SARCOMA ABCA5 ADA2 AKT1 ANAPC1 ANGPT2 ANTXR2 APC ASPSCR1 ATP6V1B2 AURKA AXIN2 BAP1 BAX BMPR1A BMPR1B BRAF BRD4 BUB1 BUB1B BUB3 CASP10 CCND1 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEP57 CHEK2 COL1A1 COL4A5 COL4A6 CTNNB1 DCC DHCR24 DICER1 DLC1 ELMO2 EP300 EPHB4 EWSR1 EXT1 EXT2 FAM20A FAM20C FAS FASLG FGFR3 FH FLCN FLNA FLT4 FOXC2 FOXO1 GATA1 GDF5 GJC2 GNAS GREM1 HEATR3 HRAS IDH1 IDH2 IFNG IL6ST KCNH1 KCNMA1 KCNN3 KEAP1 KIT KLLN KRAS KRT17 LMNA LRP1 MAD1L1 MAP2K1 MC1R MCC MDM2 MEN1 MLH1 MLH3 MSH2 MSH6 MTAP MUTYH NBN NF1 NF2 NOTCH3 NR4A3 NRAS NUTM1 PAX3 PAX7 PDE11A PDGFB PDGFRA PDGFRB PDGFRL PIEZO1 PIK3CA PLA2G2A PLCD1 PRKAR1A PRKCD PRLR PTCH1 PTEN PTH1R PTPN11 PTPN12 PTPRJ RAD54B RASGRP1 RB1 RECQL4 REST RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPRY1 SDHA SDHB SDHC SDHD SEC23B SLC22A18 SMARCB1 SMARCE1 SMO SOS1 SPRED1 SPTBN1 SQSTM1 SRC SSX2 SUFU TAF15 TERT TLR2 TP53 TRAF7 TRIP13 TSC1 TSC2 TSR2 USF3 WRN WT1 HP_SCALING_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCALING_SKIN ADAM17 CARD14 CARMIL2 CASP14 CAST CDSN CHST8 CSTA CYP4F22 DCAF17 DSP EBP EGFR ELOVL4 FLG2 GJA1 GJB2 GJB6 GNB2 IL2RA IL7R KIF11 KIT KRT1 KRT10 KRT74 LDHA LMNA LORICRIN LRBA MBTPS2 MPDU1 NIPAL4 OSMR PKP1 PPP2R3C RASA1 RECQL RIGI RNF168 SAMHD1 SASH1 SERPINB8 SULT2B1 TGM1 TGM5 ZMPSTE24 HP_SCANNING_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCANNING_SPEECH ATXN1 ATXN10 CCDC88C COQ2 CP DAB1 GOSR2 ITPR1 PAX6 PLP1 PNPLA6 SACS SLC25A15 TMEM240 TPP1 HP_SCAPHOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPHOCEPHALY AGO2 ALG14 ARCN1 ASXL3 ATP6V0A2 CNTN1 COL25A1 DPH1 DPH2 ERGIC1 FBN1 FBN2 GLI3 HSD17B4 IDS IFT122 IFT140 IFT43 IL11RA IL6ST KCNJ2 KCNJ5 KIF15 KPTN KRAS NFIX OGDHL PEX19 PRIM1 RFX7 RYR1 SCARF2 SCN4A SCYL2 SOX6 TBC1D7 THUMPD1 TRAIP TWIST1 HP_SCAPULAR_WINGING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPULAR_WINGING ACTA1 ALG14 ALG2 ANO5 ANXA11 ASH1L ATP6V0A2 BAG3 BICD2 BIN1 BRAF C19orf12 CAPN3 CCDC8 COL12A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA CSGALNACT1 CUL7 DNM1L DPAGT1 DSTYK DYSF EMD EMILIN1 EYA1 FBN1 FHL1 FLNA FLNB FLNC FRG1 GDF11 GFPT1 GMPPB GNE GYG1 KBTBD13 KCNJ2 KLHL41 LAMB2 LGI4 LMNA LRIF1 MYBPC1 MYH2 MYH7 MYPN NEB NEFL OBSL1 OPA1 PAX1 PAX3 PLIN4 POGLUT1 POLG POMT2 PRR12 PTPN11 PUS1 PYROXD1 RAF1 RYR1 RYR3 SCN4A SEPTIN9 SGCA SGCB SGCD SGCG SMCHD1 SMPX SPEG SPRED2 SPTLC1 SQSTM1 SYNE1 SYNE2 TGFB3 TK2 TMEM43 TNNT1 TNPO3 TPM2 TPM3 TRIO TRPS1 TRPV4 TTN TWNK VCP VWA1 HP_SCAPULOPERONEAL_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPULOPERONEAL_AMYOTROPHY LMNA MYH7 PLEKHG5 POMT2 TRPV4 HP_SCARRING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING ABCA4 ADA2 ADAMTS2 ADAMTSL2 AEBP1 AGBL5 AHI1 AHR APC ARHGEF18 ARL2BP ARL3 ARL6 ATP7A B3GALT6 B4GALT7 BBS1 BBS2 BEST1 BTNL2 C1R C1S CA4 CARMIL2 CC2D2A CDHR1 CERKL CFAP418 CFI CHST14 CLDN1 CLRN1 CNGA1 CNGB1 COL12A1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 CPOX CRB1 CREBBP CRX CTSC CYP26C1 DHDDS DHX38 DSE DST EBP ECM1 EFEMP2 EP300 EPHB4 ERCC1 ERCC4 ERCC6 ERCC8 EYS FAM161A FERMT1 FKBP14 FLNA FSCN2 GATA1 GJB2 GJB6 GUCA1B HGSNAT HLA-A HLA-DRB1 IDH3A IDH3B IFT140 IFT172 IFT88 IKBKG IMPDH1 IMPG1 IMPG2 IPO8 ITGB4 KDF1 KIAA1549 KIZ KLHL7 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LEMD3 LRAT LRP1 LSS MAK MAP3K7 MBTPS2 MERTK MMP1 MPV17 NCAPG2 NCSTN NEK2 NGLY1 NLRP1 NMNAT1 NOTCH3 NPPA NR2E3 NRL NTRK1 OCRL OFD1 PCARE PDE6A PDE6B PDE6G PDGFRB PKP1 PLEC PLOD1 POLA1 POMGNT1 PPOX PRCD PRDM12 PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RDH12 REEP6 RGR RHO RHOA RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SH3BP2 SIX6 SLC35C1 SLC39A13 SLC7A14 SMAD3 SNRNP200 SPATA7 TFAP2A TGFBI TGFBR1 TGFBR2 TNFRSF11B TNXB TOPORS TTC8 TUB TULP1 UROD UROS USH2A ZFHX2 ZNF408 ZNF469 ZNF513 HP_SCARRING_ALOPECIA_OF_SCALP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING_ALOPECIA_OF_SCALP CLDN1 COL17A1 EBP GATA1 GJB2 GJB6 ITGB4 KDF1 LAMA3 LAMB3 LAMC2 MBTPS2 PLEC RHOA UROD UROS HP_SCHISTOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHISTOCYTOSIS ADAMTS13 CAD CDAN1 CFH CFHR1 CFHR3 KCNN4 KLF1 PIEZO1 SC5D SLC19A1 SLC4A1 TRNT1 HP_SCHIZENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZENCEPHALY COL4A1 COL4A2 EMX2 EPG5 KIF26A SHH SIX3 TUBB2B WDR62 WNT1 HP_SCHIZOPHRENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZOPHRENIA ADGRV1 AMACR APOL2 APOL4 ARSA ARSG ARVCF ATG7 ATP2A2 CAT CDH23 CEP78 CHI3L1 CHRNA7 CIB2 CLRN1 COMT DAOA DNAJC13 DNMT3A DRD3 DSG4 EIF4G1 ESPN FLI1 FTSJ1 GBA1 GIGYF2 GJA5 GJA8 GP1BB HARS1 HIRA HTR2A JMJD1C KRT81 KRT83 KRT86 LRRK2 MED12 MSTO1 MT-TE MT-TS2 MTHFR MYO7A NIPA1 NIPA2 NKX2-1 PCDH15 PDZD7 PRODH PSAP RBM12 RREB1 RTN4R SEC24C SETD1A SHANK3 SLC12A2 SNCA SYN2 TBX1 TUBG1 UFD1 UPF3B USH1C USH1G USH2A VPS35 WFS1 WHRN ZBTB20 ZDHHC9 HP_SCHWANNOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHWANNOMA COQ6 HRAS KARS1 LZTR1 MBD4 NF1 NF2 PDE11A PRKAR1A RNF43 SMARCB1 SPRED1 HP_SCLERAL_STAPHYLOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERAL_STAPHYLOMA ARL2 BEST1 CFAP410 HADHA IMPG2 MC1R OCA2 PAX2 PIGT VPS4A HP_SCLEROCORNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROCORNEA B3GALT6 B9D1 B9D2 BMP4 CC2D2A CENPF CEP290 COX7B CPLX1 CSPP1 CTBP1 DHCR7 FGFR1 FIG4 FOXE3 HCCS HMX1 KERA LETM1 MAB21L2 MAPKAPK5 MKS1 NDP NDUFB11 NELFA NSD2 PAX6 PIGG PRDM5 PXDN RAX RPGRIP1 RPGRIP1L SCARF2 SIX6 SLC25A24 SOX2 TBX1 TCTN1 TCTN2 TCTN3 TENM3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 VAC14 HP_SCLERODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERODACTYLY GJA1 LBR LMNA RSPO1 SMARCAD1 HP_SCLERODERMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERODERMA CLCNKB CRYAB IGHG2 IGKC LBR LEMD3 LMNA PAH SLC12A3 SLC29A3 UROD UROS WRN HP_SCLEROSING_CHOLANGITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSING_CHOLANGITIS ABCB4 CD40LG CIITA CLDN1 DCDC2 KIF12 REL RFX5 RFXANK RFXAP HP_SCLEROSIS_OF_FINGER_PHALANX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_FINGER_PHALANX EIF2AK3 ERCC6 ERCC8 GJA1 NGLY1 SRCAP TONSL TRPS1 HP_SCLEROSIS_OF_HAND_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_HAND_BONE EBP EIF2AK3 ERCC6 ERCC8 GJA1 LEMD3 LMNA NGLY1 SLC34A2 SRCAP TONSL TRPS1 HP_SCLEROSIS_OF_SKULL_BASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_SKULL_BASE ACP5 AMER1 ANKH DLK1 FLNA LBR MAP3K7 MEG3 NOTCH3 PTDSS1 RTL1 SETBP1 SIK3 TGFB1 TMEM53 TNFRSF11A HP_SCLEROTIC_VERTEBRAL_ENDPLATES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROTIC_VERTEBRAL_ENDPLATES CCN6 CLCN7 DMP1 ENPP1 LRRK1 SOST HP_SCOTOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCOTOMA ABCA4 ACO2 ADGRV1 ARSG ATF6 ATP1A2 BTD C1QTNF5 CACNA1A CACNA1F CDH23 CEP78 CFAP410 CFH CFI CIB2 CLRN1 CNGA3 CNGB3 CNNM4 CRX CYP1B1 CYP4V2 DNAJC30 DNM1L EFEMP1 ELOVL4 ESPN FDXR FLVCR1 GNAT2 HARS1 HGSNAT HKDC1 HLA-A IMPG2 ITM2B KCNV2 MFN2 MFSD8 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TS2 MTRFR MTTP MYO7A MYOC NDUFS2 OPA1 OPA3 PCDH15 PDE6C PDE6H PDZD7 PITPNM3 POC1B PROM1 PRPF3 PRPH2 PRRT2 RAB28 RBP3 RDH5 RHO RLBP1 RP1 RP2 RPGR RTN4IP1 SCN1A SLC25A46 TIMM8A TMEM126A TRNT1 UNC119 USH1C USH1G USH2A WHRN HP_SEA_BLUE_HISTIOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEA_BLUE_HISTIOCYTOSIS APOE GLB1 NPC1 NPC2 SMPD1 HP_SEBORRHEIC_DERMATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEBORRHEIC_DERMATITIS ARVCF BTD C5 CARMIL2 CIB1 COMT GP1BB HIRA HPGD IL7 JMJD1C MCCC2 PIGA PIK3CA RBM8A RREB1 SEC24C SLC39A7 SLCO2A1 TBX1 TKT TMC6 TMC8 TRAF3IP2 UFD1 ZNF750 HP_SECONDARY_AMENORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_AMENORRHEA ATRX BMP15 BNC1 BPTF BRAF C14orf39 CDH23 CHD7 DIAPH2 DUSP6 EIF2B1 EIF2B2 EIF2B3 EIF2B4 ERAL1 ERCC6 FANCM FGF17 FGF8 FGFR1 FIGLA FOXL2 FSHR GALT GNRH1 GNRHR HAMP HS6ST1 HSF2BP KISS1 KISS1R LARS2 LHB LMNA MRPS22 MSH4 NHLH2 NOBOX NR3C1 NR5A1 NSMF NUP107 PAPSS2 POLG POLR3H PPARG PRKAR1A PROK2 PROKR2 PSMC3IP PSMD12 RCBTB1 RNF216 SPIDR SPRY4 TAC3 TACR3 TBL1X TKT TP53 TP63 USP48 USP8 WDR11 WRN ZSWIM7 HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY AIP AKT1 BAP1 CDH23 GLI3 MEN1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_SECONDARY_MICROCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_MICROCEPHALY ACBD5 ACO2 ACTG1 ADAM22 AGTPBP1 ALG1 ALG12 ALG9 AMPD2 ARFGEF2 ARNT2 ASNS ATP10A ATP1A2 ATP5PO ATP6V0A2 ATP6V1A ATP6V1E1 ATP9A BRAT1 C2orf69 CACNA1B CARS2 CASK CC2D1A CCDC88A CDC42 CDC45 CDKL5 CERT1 CHMP1A CLP1 CLPB CLTC CNP COG1 COG2 COG6 COG7 COG8 COQ9 CREBBP CRLS1 CTNNA2 DCX DEGS1 DHFR DIAPH1 DNM1 DOLK DPM1 DPM2 EEF1A2 EFTUD2 EIF2B1 EMC1 EP300 ERCC6 ERCC8 EXOC2 EXOSC3 EXOSC8 EXOSC9 EXTL3 FAR1 FGF12 FOXG1 FOXRED1 FRA10AC1 FTO GABBR2 GABRA5 GABRB2 GLS GLYCTK GOLGA2 GON7 GOT2 GPT2 GRIA2 GRIN2A HIKESHI HNRNPH2 HNRNPR HSPD1 HTRA2 IARS1 IQSEC2 JAM3 KIF5C LAMB2 LGI3 MBD5 MDH1 MECP2 MED17 MFF MFSD2A MGAT2 MICOS13 MPC1 NACC1 NAPB NAT8L NDUFA11 NDUFS1 NEXMIF NGLY1 NTNG1 NTRK2 OCA2 PAFAH1B1 PARS2 PCDH12 PCLO PIGA PLAA PLEKHG2 PLPBP PMPCB PNKP PNPO POMK PPP1R12A PPT1 PRORP PSAT1 PTRH2 PUF60 PUS3 PYCR2 QARS1 RAB18 RAB3GAP2 RARS2 RNASEH2A RNASEH2C RNF113A RUSC2 SATB1 SCN1A SCN8A SDHD SEPSECS SLC12A5 SLC18A2 SLC1A4 SLC25A12 SLC25A22 SLC25A46 SLC2A1 SLC39A14 SMC1A SMC3 SMPD4 SNAP29 SNRPN SPTAN1 STAMBP TAF2 TBC1D20 TBC1D24 TBCD TCF4 TMEM165 TOE1 TRAPPC12 TRAPPC2L TRAPPC6B TRAPPC9 TREX1 TRIO TSEN15 TSEN2 TSEN34 TSEN54 TUBGCP2 UBA5 UBE3A UBTF UFC1 VARS1 VPS11 VPS50 VPS53 VRK1 WARS1 WDR37 WDR73 WWOX YRDC ZEB2 ZNHIT3 ZSWIM6 HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK BVES CACNA1D CACNA1S CALM1 CALM2 CALM3 CDC45 GABRA3 KCNJ18 LAMP2 LARS2 LMNA NPPA SCN5A VEZF1 HP_SECOND_TRIMESTER_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_TRIMESTER_ONSET ACTA1 ADGRG6 ALPK3 B4GAT1 BICD2 BMPER CCDC88C COASY COL2A1 CREB3L1 ERCC5 FGFR3 FH GFRA1 GRIP1 IARS1 KIF14 KMT2D L1CAM MDFIC MKS1 MYRF NDUFB7 NEK8 NUP88 PLXND1 RECQL4 RMRP ROBO1 SCN4A SCN5A SIN3A SLC25A19 STRA6 TBXT TCTN3 THSD1 TRIP11 TXNDC15 WT1 HP_SECRETORY_DIARRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECRETORY_DIARRHEA ACSL5 DEF6 EGFR EPCAM FOXP3 NLRC4 PERCC1 PLVAP SLC26A3 SLC9A3 SLCO2A1 SPINT2 STX3 UNC45A HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT ACTC1 ADK ATIC ATP2B1 ATP9A BUB1 CHD7 COG7 DOHH G6PC3 GATA6 GDF1 GET3 H4C3 H4C9 HEATR3 IDH1 KAT6A KDM5B MEIS2 METTL5 MYH6 NAA10 NF1 NKX2-5 NR2F2 PGAP1 POLR3A PRDM13 PRRX1 PTF1A RPL11 SH3PXD2B SHMT2 STK4 TBX5 TRIP4 TTC26 USP18 ZNF668 HP_SEESAW_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEESAW_NYSTAGMUS ATP1A2 CACNA1A CLTCL1 PRRT2 SCN1A TMEM231 HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION DNM2 EGR2 GBF1 LITAF MPZ MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TV MT-TW NDRG1 NEFL PMP22 PRPS1 PRX SBF2 HP_SEIZURE_PRECIPITATED_BY_FEBRILE_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEIZURE_PRECIPITATED_BY_FEBRILE_INFECTION AASS ABHD16A ACADM ADGRV1 ADORA2A AGO1 ALDH4A1 AMFR AP2M1 AP4S1 APP ARX ASXL2 ATP1A2 ATP6V1A AUH CACNA1A CACNA1H CACNB4 CAMK2A CASK CDKL5 CEP85L CHD2 CILK1 CLCN2 CNKSR2 COG4 CPA6 CPLX1 DEPDC5 DMXL2 DNMT3A DPP9 DPYD DTYMK DYRK1A EFHC1 EMC10 ERLIN2 FAR1 FBXO28 GABRA1 GABRA3 GABRB3 GABRD GABRG2 GALC GAMT GLS GNAO1 GNB1 GPT2 GRIA2 GRIN1 GRIN2A GRM7 HCN1 HCN2 HERC2 HNRNPR HS6ST2 JRK KCNA1 KCNA2 KCNJ6 KCNQ2 KCNQ3 KCTD7 KMT5B LMNB1 MAF MBD5 MBOAT7 MT-TK MVK NEUROD2 NEXMIF NFIX NPRL2 NPRL3 PCDH19 PDE2A PEPD PGAP2 PIGP PIGQ PNKP POGZ PRRT2 PTH1R RFX7 RNU12 RPL10 RSRC1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHB SEPSECS SETBP1 SETD5 SIK1 SLC12A5 SLC13A3 SLC25A12 SLC25A22 SLC2A1 SLC32A1 SLC35C1 SLC44A1 SLC6A1 SPTBN1 SRPX2 STX1B SYNGAP1 TBC1D24 TBCD THUMPD1 TRIM8 TRIT1 TSEN15 TSEN2 TSEN34 TSEN54 VPS11 WAC WDR11 WDR26 HP_SELECTIVE_TOOTH_AGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELECTIVE_TOOTH_AGENESIS ARHGAP29 ARHGEF38 ATP6V1B2 ATR AXIN2 B3GLCT BCOR BLM BMP4 CDC42BPB CDH1 CDH11 CDH3 CEP152 COBLL1 DDX59 DLG1 DLX3 DLX4 EDA EDARADD EIF4A3 ERCC3 FGF3 FGFR1 FLNA GJA1 GLI2 GREM2 IRF6 LRP6 MSX1 NAA10 NECTIN1 NEK1 PAX9 PDGFRA RIC1 RIPK4 SUMO1 TCF12 TGFA TP63 WNT10A WNT10B HP_SELF_BITING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_BITING ATP1A1 CEP104 DNM1L FMR1 NEXMIF NTRK1 PIDD1 RFX7 SYT1 HP_SELF_INJURIOUS_BEHAVIOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_INJURIOUS_BEHAVIOR ABCA12 ADSL ALDH5A1 ALG13 ALG14 AP1G1 AP1S2 ARX ASXL3 ATG7 ATP1A1 ATP6V0A1 ATRX AUH BCL11A BCOR C12orf57 CAMK2G CASK CASZ1 CDC42BPB CDH2 CDKL5 CEP104 CEP152 CHD5 CHD7 CHKA CLCN3 CLCN4 CLTCL1 CNTNAP2 CRB1 CRBN CREBBP CTNNB1 DCHS1 DEAF1 DHCR7 DMXL2 DNM1 DNM1L DPAGT1 DPYD EEF1A2 EHMT1 ELP2 EP300 FAT4 FBXW11 FLII FMR1 FOXP1 GABBR2 GABRD GAMT GATAD2B GJA5 GJA8 GJB2 GLS GNAO1 GRIA1 GRIA2 GRIA3 GRIN1 GRM7 GUCY2D H4C5 HDAC4 HDC HECW2 HERC2 HNRNPH2 HPRT1 HSPG2 HTR2A IFNG INPP5E IQSEC2 KARS1 KAT5 KCNA1 KCNAB2 KIF15 KIF5C KMT2C KMT2E KPTN LARP7 LUZP1 MADD MAGEL2 MAOA MAPK1 MBD5 MGAT2 MKRN3 MMP23B MYT1L NAA10 NALCN NAT8L NDE1 NDN NDP NDST1 NEUROD2 NEXMIF NFIX NIPA1 NIPA2 NIPBL NMNAT1 NPAP1 NRCAM NTNG2 NTRK1 OCA2 OCRL ODC1 OPHN1 PAH PDPN PIDD1 PIGF PIGP PIGQ PNKP POGZ PPP2CA PRDM16 PRKCZ PWAR1 PWRN1 RAI1 RBL2 RERE RFX7 RHOBTB2 RLIM RNU7-1 RPE65 RPL10 RPS6KA3 RTTN SATB2 SCN1B SCN2A SETBP1 SHANK3 SHQ1 SIK1 SIM1 SKI SLC1A4 SLC25A22 SLC32A1 SLC6A17 SLC6A4 SLC6A8 SLITRK1 SMARCC2 SMG8 SNORD115-1 SNORD116-1 SNRPN SOX5 SPATA5 SPEN SPOP SVBP SYT1 TAOK1 TBC1D23 TCF4 THOC2 TKT TMCO1 TMEM147 TMEM231 TREX1 TRIM8 TRIO TSC1 TSC2 TUBG1 TULP1 UBE2A UBE4B UNC80 USP7 VAMP2 VPS13A WAC WASF1 WASHC4 WDR62 ZBTB20 HP_SELF_MUTILATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_MUTILATION ADSL ALG13 ATG7 AUH BCOR C12orf57 CAMK2G CHD7 CLTCL1 CNTNAP2 CREBBP CTNNB1 DHCR7 DPYD EP300 GATAD2B GRIA3 GRM7 H4C5 HDC HERC2 HPRT1 INPP5E LARP7 MADD MGAT2 MYT1L NAA10 NAT8L NDE1 NTRK1 OPHN1 PAH RAI1 RNU7-1 SATB2 SLC6A17 SLC6A8 SLITRK1 SMG8 SYT1 THOC2 TMCO1 TMEM231 TREX1 TRIO VPS13A WDR62 HP_SEMILOBAR_HOLOPROSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEMILOBAR_HOLOPROSENCEPHALY CNOT1 FGFR1 PTCH1 SEC31A SIX3 SMC1A STAG2 TGIF1 ZIC2 HP_SENILE_PLAQUES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENILE_PLAQUES ABCA7 APOE CHMP2B GRN MAPT PRNP PSEN1 PSEN2 TMEM106B TREM2 VCP HP_SENSORIMOTOR_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORIMOTOR_NEUROPATHY ABCD1 ABHD12 AFG3L2 AHCY AIFM1 AMACR ATP1A1 B2M B4GALNT1 CLCF1 CLP1 COA3 COA8 DHH DNAJC3 DNM1L EMILIN1 FDX2 GALC GBA2 GDAP1 GET4 GJB1 HADHA HADHB HSD17B4 IARS2 IFRD1 IGHMBP2 KIF1A KIF5A LAMA2 LIG3 LITAF MCM3AP MME MPV17 MPZ MRE11 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NEFH NEFL NGLY1 OPA1 PDK3 PDYN PEX6 PEX7 PHYH PIGB PIK3R5 PLA2G6 PMP22 PNKP POLG PPP2R2B PSAP RAB7A RFC1 RNASEH1 RPIA RRM2B SACS SCO2 SCYL1 SETX SH3TC2 SLC25A46 SLC30A10 SLC52A2 SPG11 SPTLC2 TDP1 TFG TYMP UCHL1 VCP VPS13D VPS41 VRK1 XRCC1 HP_SENSORY_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_ATAXIA AARS1 DNAJC3 EGR2 FLVCR1 GPI KPNA3 MPZ NAGLU PIEZO2 PMP22 POLG PRX RNF170 SH3TC2 TWNK UCHL1 HP_SENSORY_AXONAL_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_AXONAL_NEUROPATHY ACOX1 AIFM1 ATL3 ATP13A2 CAPN1 CCT5 COX20 CTSD DGUOK DHX16 FGF14 FXN GAN GJC2 HEXB HINT1 HNRNPA1 HNRNPA2B1 KLC2 LMNA MFN2 MORC2 NEFH OPA1 PIEZO2 PLD3 PLEKHG4 POLG PRICKLE1 SAMD9L SHMT2 SYNE1 TK2 TWNK VCP XRCC4 HP_SENSORY_BEHAVIORAL_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_BEHAVIORAL_ABNORMALITY AARS1 ABCA4 ADAM9 AFG3L2 AGBL5 AHI1 AHR AHSG AIPL1 AIRE ALDH3A2 ALMS1 ANTXR1 AP1B1 AP3B1 AP3D1 ARHGEF18 ARL2BP ARL3 ARL6 ATF6 ATP10A ATXN7 AUTS2 BAZ1B BBS1 BBS2 BCL7B BEST1 BLOC1S5 BUD23 C1QTNF5 C4A CA4 CABP4 CACNA1F CACNA2D4 CARS1 CC2D2A CCR1 CDHR1 CEP250 CEP78 CERKL CFAP410 CFAP418 CFH CFI CHMP2B CHST6 CLCC1 CLIP2 CLRN1 CLTRN CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL17A1 COL4A1 COL8A2 CRB1 CREBBP CRLS1 CRX CRYGC CST6 CTNS DCN DCT DCTN1 DDB2 DEAF1 DHDDS DHX38 DKK1 DNAJC30 DRAM2 EDNRA EFEMP1 EIF4H ELN ELOVL1 ELOVL4 EP300 EPCAM ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 EYS FAM161A FAS FKBP6 FLII FOXC2 FSCN2 GALC GAN GJA1 GJB2 GJB6 GM2A GNAT2 GNB3 GPR143 GRHL2 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUCA1A GUCA1B GUCY2D GUSB HADHA HARS1 HEXB HGSNAT HK1 HLA-A HLA-B HLA-DRB1 HPS1 HPS6 IDH3A IDH3B IFNGR1 IFT140 IFT172 IFT88 IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 INPP5E IQSEC2 ITGB6 ITM2B KCNJ13 KCNV2 KIAA1549 KIZ KLHL7 KLRC4 KRT12 KRT14 KRT3 KRT5 LCA5 LIMK1 LRAT LRMDA LSS LTBP2 LYST MAK MAPT MBTPS2 MC1R MCOLN1 MEFV MERTK METTL27 MFF MFRP MLXIPL MPLKIP NCF1 NEK2 NLRP1 NLRP3 NMNAT1 NOD2 NOTCH2NLC NR2E3 NRL OCA2 OFD1 OPN1LW OPN1MW OPN1SW OVOL2 PCARE PCNA PDE6A PDE6B PDE6C PDE6G PDE6H PERCC1 PIKFYVE PITPNM3 PLCD1 PNPLA6 POC1B POLA1 POLH POMGNT1 PPM1D PRCD PRKAR1B PRNP PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP PSEN1 RAB28 RAI1 RAX2 RBP3 RDH12 RDH5 REEP6 RFC2 RFX7 RGR RGS9 RGS9BP RHO RIMS1 RIMS2 RLBP1 RNF113A ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SCAPER SCN1A SEMA4A SHANK3 SLC1A3 SLC24A5 SLC39A4 SLC45A2 SLC6A19 SLC7A14 SNRNP200 SNRPN SPATA7 SQSTM1 SREBF1 ST14 STAT4 STX1A TACSTD2 TARS1 TAT TBL2 TGFBI TIMM8A TLCD3B TLR4 TMEM106B TMEM270 TNF TOPORS TP63 TRANK1 TREM2 TRIO TTC8 TTLL5 TUB TUBB4B TULP1 TYR UBAC2 UBE3A UNC119 USH2A VCP VPS37D VSX1 WDR45 WNT10A XPA XPC ZEB1 ZNF408 ZNF513 HP_SENSORY_NEUROPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_NEUROPATHY ACOX1 AIFM1 ALAD ALS2 AMACR AR ARL6IP1 ATL1 ATL3 ATP13A2 ATXN8OS CACNA1A CAPN1 CCT5 CLCN6 COMP COX20 CRAT CTDP1 CTLA4 CTSD DGUOK DHH DHX16 DKK1 DMD DNASE1L3 DNMT1 DST ERLIN2 FGF14 FXN GAN GJB1 GJC2 GSN HADHA HADHB HEXB HINT1 HK1 HLA-DPA1 HLA-DPB1 HNRNPA1 HNRNPA2B1 IARS2 IBA57 KLC2 LMNA LYST MFN2 MORC2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NAGA NEFH NF2 OPA1 PEX1 PEX6 PIEZO2 PLD3 PLEKHG4 PLP1 PNPT1 POLG PRICKLE1 PRPS1 PRTN3 PTPN22 RAB7A RAI1 REPS1 RNF170 RNU7-1 SAMD9L SHMT2 SLC12A6 SPG11 SPTLC1 SPTLC2 SYNE1 TDP1 TFG TGFB1 TIMM8A TK2 TNXB TOP3A TRPV4 TTPA TWNK VCP VPS13A XRCC4 HP_SENSORY_SEEKING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_SEEKING ATP10A CHMP2B CRB1 CRLS1 DCTN1 GRN GUCY2D MAPT NMNAT1 PRKAR1B PRNP PSEN1 RAI1 RFX7 RPE65 SHANK3 SNRPN SQSTM1 TMEM106B TREM2 TULP1 UBE3A VCP HP_SEPSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPSIS ABCA12 ABCA3 ABCD1 ACTG2 ADA AK2 ALG1 ALG12 ALOX12B ALOXE3 AP1S3 APC ASPRV1 ATP7A BLNK BTK C1QB CD27 CD40LG CD79A CD79B CHD7 COG4 COX8A CTCF CTLA4 CTNNB1 CXCR4 CYBA CYBB CYBC1 CYP4F22 DCLRE1C DEF6 DNAJC21 ECE1 EDN3 EDNRB EFL1 ELANE ERBB2 ERBB3 FCGR3B FERMT3 FOCAD FOXP3 G6PC3 GALM GALT GDNF GJB2 GJB6 HLA-B HMOX1 HYOU1 IDH1 IGHG2 IGHM IGKC IGLL1 IKZF1 IL2RG IL36RN IL7R KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIG4 LIPN LMOD1 LRBA LRRC8A MMUT MNX1 MRTFA MYD88 MYH11 MYLK NCF1 NCF2 NCF4 NFKB2 NIPAL4 NRTN PEX19 PGM3 PIK3R1 PKP1 RAC2 RAG1 RAG2 RET RMRP RNF13 SAMD9 SASH3 SBDS SDR9C7 SEMA3C SEMA3D SERAC1 SFTPB SFTPC SLC39A7 SMARCD2 SMO SPI1 SPINK5 SREBF1 SRP54 STK4 SULT2B1 TCF3 TFRC TGM1 TREX1 VPS33A WAS WIPF1 YARS1 HP_SEPTATE_VAGINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTATE_VAGINA BCOR CCNQ DHCR7 GATA3 HOXA13 INTU MKKS MNX1 TP63 UBR1 WT1 ZEB2 HP_SEPTIC_ARTHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTIC_ARTHRITIS BTK C2orf69 CFI MTHFD1 MYD88 NGF NTRK1 HP_SEPTO_OPTIC_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTO_OPTIC_DYSPLASIA ARNT2 CDC42BPB CDON FGFR1 FOXA2 GLI2 GPR161 HESX1 LHX4 OTX2 POU1F1 PROKR2 PROP1 ROBO1 RSPO2 SOX2 SOX3 STAG2 WDR11 WNT3 HP_SEROSITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEROSITIS ACTN4 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA BANK1 BLK BRCA1 C4A C4B CALR CCR1 CD2AP CDC45 CFB COL4A3 COQ8B CR2 CRB2 CTLA4 DAAM2 DNASE1 ELANE EMP2 ERAP1 ETS1 F5 FAS FCGR2A FCGR2B FCGR3B FOCAD GAPVD1 HBA1 HBA2 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IFNGR1 IGHG1 IL10 IL12A IL12A-AS1 IL23R IL6 INF2 IRAK1 IRF4 IRF5 ITGAM JAK2 JAZF1 KIAA0319L KLRC4 LACC1 LCK MAF MAGI2 MECP2 MEFV MIF MVK MYH11 MYO1E NOD2 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 P4HA2 PAX2 PDCD1 PLCE1 PMM2 PRG4 PRTN3 PTPN22 PTPRO PXK RNU7-1 SPP1 STAT4 TBC1D8B TLR4 TLR7 TNFAIP3 TNFRSF1A TNFSF4 TNIP1 TREX1 TRPC6 UBAC2 UBE2L3 WT1 HP_SERTOLI_CELL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SERTOLI_CELL_NEOPLASM DICER1 KEAP1 PDE11A PRKAR1A STK11 HP_SEVERELY_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION BAG5 DSG2 GTPBP3 LAMP2 LMOD2 MYH6 PSEN1 TNNI3 TTN HP_SEVERELY_REDUCED_VISUAL_ACUITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_VISUAL_ACUITY AIPL1 ALG3 C1QTNF5 CACNA1F CEP290 CHST6 CNGB3 CRB1 CRX CTNNB1 CYP4V2 FZD4 GDF6 GUCY2D HPS1 IFT140 IMPDH1 IQCB1 KCNJ13 LCA5 LRAT LRP5 NDP NHS NMNAT1 NPHP4 OFD1 OSTM1 PCYT1A PROM1 RD3 RDH12 RPE65 RPGRIP1 SPATA7 STX3 TIMP3 TSPAN12 TUBB4B TULP1 USP45 WFS1 ZNF408 ZNF513 HP_SEVERE_B_LYMPHOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_B_LYMPHOCYTOPENIA ADA DCLRE1C NFKB2 PRIM1 RAG1 RAG2 HP_SEVERE_COMBINED_IMMUNODEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_COMBINED_IMMUNODEFICIENCY ADA AK2 BCL11B CD3D CHD7 DCLRE1C EXTL3 IL2RG IL7R JAK3 LIG4 MTHFD1 PGM3 PI4KA PNP PRKDC RAG1 RAG2 RMRP TTC7A XRCC4 HP_SEVERE_CYTOMEGALOVIRUS_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_CYTOMEGALOVIRUS_INFECTION CARD11 DEF6 IKBKG IL2RB LAT MAGT1 MCM10 PIK3CD PIK3R1 PTEN REL TPP2 HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER L2HGDH MMACHC PIGG PPP1R15B PRPS1 PYCR2 TRMT10A HP_SEVERE_EPSTEIN_BARR_VIRUS_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_EPSTEIN_BARR_VIRUS_INFECTION DNASE2 PIK3CD PIK3R1 PTEN SH2D1A XIAP HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY ARID1B ASXL1 DPYD EHMT1 GRIA3 HERC1 KMT2C POGZ RSPRY1 SH2B1 SPATA5 TAF1 HP_SEVERE_FAILURE_TO_THRIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_FAILURE_TO_THRIVE ASXL1 BSND CENPJ CLCNKA CLCNKB ERCC6 FIG4 HYMAI INSR LMNA NALCN PEX7 PRPS1 RTTN UNC80 VAC14 ZFP57 ZMPSTE24 HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY ABCC6 ACO2 ACOX1 ACTL6B ADAR ADK ADNP ADSL ALG1 ALG12 ALG2 AP3D1 ARNT2 ARX ASNS ASXL3 ATPAF2 BUB1B C18orf32 CACNA1I CASK CCDC47 CDKL5 CHKA CLTCL1 COG8 COPB2 CTNNA2 CTNND2 CYB5A CYB5R3 DAG1 DALRD3 DEAF1 DEGS1 DENND5A DLK1 DNM1 DOCK6 DPM1 DPYD DPYSL5 DYM DYNC1I2 DYRK1A ECHS1 EIF2S3 EMG1 ENPP1 ERCC1 ERCC2 ERCC5 ERCC6 EXOC2 EXOC8 EXTL3 FBXL4 FGF13 FGFR3 FIG4 FOXA2 FOXP2 FTO FUT8 FZR1 GABBR2 GABRA2 GABRG2 GAMT GEMIN4 GFM2 GLI2 GLUL GLYCTK GNPTAB GPHN GRIN1 GRM1 GRM7 GSX2 GTPBP2 H4C5 HESX1 INSR INTS1 JAG1 KARS1 KATNB1 KCNC2 KCNH1 KCNJ6 KDM5B KIF15 KMT2B LAMB1 LHX4 LSM11 MADD MAPKAPK5 MECP2 MED25 MEG3 MEIS2 MGAT2 MN1 MPDU1 MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1 MT-TT MT-TV MT-TW MTRR NAA10 NDE1 NDUFA8 NEXMIF NIN NKX6-2 NTNG1 NTRK2 OGDHL OTX2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHGDH PIGG PIGN PIGS PIGU PIGW PLCB3 POLRMT POMGNT1 POMK POU1F1 PPP1R21 PRIM1 PRMT7 PROP1 PRORP PSMC3 PURA PYCR2 RAB3GAP2 RALGAPA1 RBL2 RELN RNASEH2A RNASEH2C RNASET2 RNF2 RPS6KA3 RTL1 RTTN SATB2 SCN2A SEMA5A SEPSECS SLC16A2 SLC25A19 SLC25A46 SLC30A9 SLC33A1 SLC9A6 SMC1A SNIP1 SNX14 ST3GAL3 STAMBP STRADA STXBP1 SUCLA2 SYT1 TAF8 TANGO2 TBC1D2B TBCK TBL1XR1 TBR1 TELO2 TRAPPC12 TRAPPC2L TRIM8 TSEN15 TSEN2 TSEN34 TSEN54 TTC26 TUBA8 TUBB2A TUBB3 TXN2 UGDH UGP2 UNC80 VPS11 VPS35L VPS4A VPS50 VPS51 VPS53 WDR26 WDR62 YY1 ZNF335 ZPR1 HP_SEVERE_HEARING_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_HEARING_IMPAIRMENT ALMS1 ATP6V1B2 BRAF CHSY1 COL1A2 GJB2 GJB6 GPSM2 KMT2D PTPN11 RAF1 TK2 TRIOBP VSX1 HP_SEVERE_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INFECTION ADORA2A BCL11A BLM CARD11 CD247 CD27 CD3D CD3E CD40LG CD70 CTPS1 CXCR2 DBR1 DEF6 DNASE2 DOCK2 ELANE FCGR3A FCGR3B FOXP3 HBB HBG1 HBG2 HYOU1 IGHG2 IGKC IKBKG IKZF3 IL2RA IL2RB IL7 IL7R IRF3 IRF7 ISG15 ITK KLF1 LAT MAGT1 MCM10 MECP2 NCKAP1L NFKBIA PGM3 PIK3CD PIK3R1 PRKCD PRPS1 PTEN RAC2 RAG1 RAG2 REL SASH3 SH2D1A SNORA31 STAT1 STAT2 STK4 TBK1 TET2 TGFB1 TICAM1 TLR3 TLR7 TMC8 TNFRSF9 TOM1 TPP2 TRAC TRAF3 UNC93B1 XIAP ZNFX1 HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION CEP57 EMG1 ESCO2 GRB10 H19 IGF1 IGF2 INSR NIN POLR3A PTF1A RECQL4 TBCE UBR1 HP_SEVERE_LACTIC_ACIDOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_LACTIC_ACIDOSIS BCS1L COX16 LRPPRC MT-TE MT-TT NDUFS2 NDUFS4 PDHA1 RRM2B SLC25A26 SLC25A4 TRMU TSFM UQCC3 HP_SEVERE_MUSCULAR_HYPOTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_MUSCULAR_HYPOTONIA ACTA1 AIFM1 ALG14 ASCC1 B3GALNT2 B4GAT1 BICD2 BMP4 CARS2 CCDC174 DMXL2 DOLK DPM2 FKBP14 FKRP FKTN GCDH GCH1 GPT2 GRIN1 IBA57 ITPA KIF1A KLHL40 KLHL41 LARGE1 LMOD3 MPLKIP MPZ MTM1 MYMK NDUFS6 NEB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PIGG PIGN PNPT1 POMGNT1 POMT1 POMT2 PURA RMND1 SLC25A1 SLC25A12 SLC39A8 SNRPN SPTBN4 STRADA TBC1D24 TBCK TPM3 TRIP4 UBA1 VAMP1 ZNHIT3 HP_SEVERE_PHOTOSENSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PHOTOSENSITIVITY DHCR7 EPM2A GATA1 NHLRC1 UROD UROS HP_SEVERE_PLATYSPONDYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PLATYSPONDYLY COL2A1 EXTL3 FGFR3 INPPL1 LRP5 PAM16 PCYT1A HP_SEVERE_POSTNATAL_GROWTH_RETARDATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION ANKRD55 BLM BRD4 CD247 CPLX1 CTBP1 EBP EMG1 ERCC8 FGFRL1 GATA3 GNPTAB HDAC8 IGF1 IL2RA IL2RB INSR LETM1 LHX4 NIN NIPBL NSD2 POU1F1 PPP1R15B PRIM1 PTPN2 PTPN22 RAD21 RNU4ATAC RPL10 RYR1 SHPK SMC1A SMC3 STAT4 TBC1D20 TRMT10A TSHB WFS1 HP_SEVERE_SHORT_LIMB_DWARFISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_LIMB_DWARFISM FLNB GDF5 LBR NSMCE2 XRCC4 HP_SEVERE_SHORT_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_STATURE ADAMTS2 ADAMTSL2 AMER1 ANTXR2 ATP11A B3GALT6 BRF1 CANT1 CDC45 CDC6 CDT1 CENPJ CENPT CKAP2L COL1A1 COL1A2 COL2A1 COMP COX7B CRIPT CSGALNACT1 CTSA DDRGK1 DHCR24 DLL3 DLX5 DNMT3A DVL1 DVL3 DYM EFEMP2 EPRS1 ERCC4 ERCC6 ESCO2 FAM111A FBLN5 FBN1 FGFR1 FGFR3 FLNB FZD2 GH1 GHR GHRHR GLB1 GMNN GORAB GUSB HCCS HHAT HSPA9 HSPG2 IDS IGF1R INPP5K INPPL1 KAT6B KIF11 LARP7 LTBP1 LTBP3 LYSET MAP3K7 MBTPS2 MESP2 NDUFB11 NEPRO NIN NSMCE2 OBSL1 ORC1 ORC4 ORC6 PCYT1A PEX7 PIEZO2 PIK3R1 PNPLA6 POLE PTCD3 PTDSS1 PTH1R PYCR1 RECQL4 RMRP RNU4ATAC RPL13 RTTN SALL4 SDHA SDHAF1 SDHB SDHD SGMS2 SHOX SIL1 SLC26A2 SMAD4 SMARCA2 STAT5B STRA6 TBX6 TCTN3 TRIP11 TRPV4 WNT5A XYLT1 HP_SEVERE_TEMPER_TANTRUMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_TEMPER_TANTRUMS DPF2 GNAI1 RSRC1 SCN8A TACO1 WARS2 HP_SEVERE_VARICELLA_ZOSTER_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VARICELLA_ZOSTER_INFECTION BLM CD27 CD70 CTPS1 DOCK2 FCGR3A IL2RA MAGT1 PGM3 PIK3CD PIK3R1 PTEN RAC2 SASH3 TGFB1 TRAC HP_SEVERE_VIRAL_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VIRAL_INFECTION ADORA2A BLM CARD11 CD27 CD3D CD70 CTPS1 DEF6 DNASE2 DOCK2 FCGR3A IKBKG IL2RA IL2RB IRF7 ISG15 LAT MAGT1 MCM10 NFKBIA PGM3 PIK3CD PIK3R1 PTEN RAC2 REL SASH3 SH2D1A STAT2 TGFB1 TLR7 TPP2 TRAC XIAP ZNFX1 HP_SEX_REVERSAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEX_REVERSAL AKR1C2 AKR1C4 CBX2 CILK1 CYP11A1 DHH MAP3K1 NR0B1 NR5A1 RSPO1 SOX9 SRY WNT4 ZFPM2 HP_SHAGREEN_PATCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAGREEN_PATCH IFNG PTEN SLC25A24 TSC1 TSC2 HP_SHALLOW_ACETABULAR_FOSSAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ACETABULAR_FOSSAE COG1 GATA1 GNPTAB HOXA11 IFIH1 RAB23 RNU4ATAC SMARCAL1 TBX4 TONSL UFSP2 HP_SHALLOW_ANTERIOR_CHAMBER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ANTERIOR_CHAMBER ADAMTS10 ADAMTS17 ANTXR1 ASPH ATOH7 FBN1 FZD4 LTBP2 NDP PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY RAB18 TSPAN12 HP_SHAWL_SCROTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAWL_SCROTUM ATRX CREBBP DYRK1A EFNB1 EP300 FGD1 HNF1B LAMA5 LHX1 MED12 MEGF8 METTL23 MID1 NEXMIF ORC1 PSMD12 PTRH2 SAMD9 SPECC1L TBX3 TBX4 TMCO1 TWIST2 HP_SHIELD_CHEST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHIELD_CHEST BRAF CHST3 DYM FUCA1 IDH1 KRAS LZTR1 MAP2K1 POP1 PTPN11 RAB5IF SRCAP TRAPPC2 TRPV4 WNT4 XYLT2 HP_SHOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOCK ABCC6 ATRX DAXX DSP JUP LMOD2 MYL2 NAA10 RPL3L SCNN1A SCNN1B SCNN1G SDHA TRDN HP_SHORTENED_PR_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_PR_INTERVAL CACNA1S DOHH GAA GABRA3 KCNJ18 MT-CYB MTFMT PRKAG2 TRPM4 HP_SHORTENED_QT_INTERVAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_QT_INTERVAL CACNA1C CACNA2D1 CACNB2 CDC73 CDKN1A CDKN1B CDKN2B CDKN2C KCNH2 KCNJ2 KCNQ1 MEN1 SLC4A3 HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS ALG6 BRF1 MGP PGAP2 PGAP3 PHF6 PIGL PIGO PIGV PIGW PIGY POR VPS35L HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS COL2A1 EIF2AK3 FGFR1 FGFR2 GDF5 HOXA13 PHF6 HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES ARSL FIG4 KCNH1 NOG PIGF SOX9 TRPV4 VAC14 HP_SHORT_1ST_METACARPAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_1ST_METACARPAL ACVR1 BMPR1B BRD4 CANT1 DLK1 FANCI FZD2 GDF5 HDAC8 HOXA13 LAMA5 MEG3 NIPBL NOG PCNT RAD21 ROBO1 RTL1 SALL4 SETBP1 SMC1A SMC3 SOX9 SRCAP VPS35L HP_SHORT_4TH_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_4TH_TOE ADNP COX4I1 SVBP TBX3 WASF1 HP_SHORT_5TH_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_5TH_TOE COX4I1 DYRK1A EP300 RBPJ TBX3 HP_SHORT_CHIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CHIN ABL1 ADNP ALDH1A2 ALG13 AP1S2 ARID1B ASXL3 BMPR1A CAMK2B CDK10 COA6 COL9A2 COX7B CYP26C1 DDR2 DST EBF3 EDA ERCC1 ERCC4 ERCC6 ERCC8 FBXO31 FIG4 FLNA GRB10 H19 IGF2 ITCH LMNA MAN1B1 MAP3K7 MBD5 MED12 MEF2C MTOR MYOD1 NDUFS4 NFIA NRCAM NSD2 NSUN2 PAPPA2 PARS2 PIGS PIK3R1 PPP1R21 PRKDC PTEN PTF1A RECQL4 RNF13 RNU4ATAC SCUBE3 SET SHANK3 SLC26A2 SLF2 SOX11 TRIO VAC14 XRCC4 ZBTB24 ZMPSTE24 ZNF292 HP_SHORT_CLAVICLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CLAVICLES ALX4 ATP7A B4GALT7 BCOR BGN BMPR1A CBFB CDC42BPB CHD4 DCHS1 DYNC2LI1 FAT4 FBXL3 FGFR2 FIG4 FLNA HOXD13 IDUA LEMD2 LMNA MSX2 NAA10 NSDHL PORCN PTEN RNU12 RSPO2 RUNX2 SALL4 SCARF2 SRCAP TBX3 TBX5 TRIP11 TWIST1 XYLT1 ZMPSTE24 HP_SHORT_COLUMELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_COLUMELLA ACTB ACTG1 ALX3 ARSL ASXL3 B3GLCT CENPF CHST14 CREBBP CTCF DNMT3A EP300 ERF KCNH1 KCTD1 KDM6A KMT2A KMT2D LMBR1 MAN2C1 MBD5 NAA10 NALCN SCNM1 SHH THUMPD1 TWIST1 HP_SHORT_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CORPUS_CALLOSUM AHSG ITGB6 LSS PDHB SLC35A2 TAF8 HP_SHORT_DIGIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DIGIT ABCA12 ABCC9 ACAN ACP5 ACTL6B ACVR1 ADA ADA2 ADAMTS10 ADAMTS17 ADAMTS2 ADNP AFF4 AHSG AIFM1 AKT1 ALG6 ALG8 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ANTXR2 AP1G1 APC APC2 ARHGAP31 ARID1A ARID1B ARID2 ARL6 ARSL ARX ASAH1 ASPH ASXL1 ATP6V1B2 ATP7A ATRX B3GLCT BAP1 BBIP1 BBS1 BBS4 BBS5 BBS9 BCOR BCR BGN BHLHA9 BICRA BMP2 BMP4 BMPR1B BPNT2 BRAF BRCA2 BRD4 BRF1 BRIP1 C12orf57 CAMK2G CANT1 CASK CASZ1 CBFB CBL CCDC22 CCDC28B CCDC32 CDC42BPB CDH11 CDKL5 CDKN1C CEP120 CEP152 CEP55 CHD7 CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST11 CHST3 CHSY1 CILK1 CITED2 CLCN7 CNOT2 COG4 COL10A1 COL11A1 COL11A2 COL2A1 COMP COX4I1 CPLANE1 CPLX1 CREBBP CRIPT CRKL CSGALNACT1 CSNK2A1 CSPP1 CTBP1 CTSK CUL4B CUL7 CWC27 DBH DCLRE1C DCPS DDR2 DDX3X DEAF1 DHCR7 DHODH DLK1 DLL4 DMXL2 DNMT3A DOCK6 DONSON DPF2 DPH2 DPYSL5 DVL1 DVL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B DYRK1A EDA EDA2R EFNB1 EHMT1 EIF2AK3 EIF4A3 EOGT EP300 EPB41L1 ERF ESCO2 EVC EVC2 EXOSC2 EXT1 EXTL3 FAM111A FAM149B1 FAM20C FANCA FANCC FANCD2 FANCE FANCF FANCI FBN1 FBXO28 FBXW11 FGD1 FGF10 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLII FLNA FLNB FLT4 FN1 FTO FTSJ1 FZD2 GABRD GATA1 GATA4 GATA5 GATA6 GDF1 GDF5 GDF6 GGCX GHR GJA1 GJA5 GJA8 GJB3 GJB4 GLI1 GLI3 GMNN GNAO1 GNAS GNAS-AS1 GNB2 GPC3 GPC4 GPX4 GRB10 GRIN1 GRIP1 GRM7 HBA1 HBA2 HDAC4 HDAC8 HEATR3 HESX1 HHAT HMGA2 HNRNPR HOXA13 HOXD13 HRAS HS2ST1 HSPG2 HUWE1 IARS2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT80 IFT81 IGF1R IGF2 IHH IL2RG IL7R INPP5K INPPL1 INTU IQSEC2 IRX5 ITGB6 JAG1 KAT6A KAT6B KCNA1 KCNAB2 KCNH1 KCNJ2 KCNJ8 KCNK4 KCNN3 KDM1A KDM5C KDM6A KDR KDSR KIAA0586 KIAA0753 KIF15 KIF26A KIF7 KLF13 KLLN KMT2A KMT2D KNSTRN KRAS LAMA5 LBR LETM1 LHX3 LHX4 LIFR LIG4 LMNA LMNB2 LONP1 LRP4 LSS LTBP1 LTBP2 LTBP3 LUZP1 LZTFL1 LZTR1 MACROH2A1 MAF MAFB MAGEL2 MAP2K1 MAP3K7 MAPK1 MAPK8IP3 MARS1 MASP1 MBD5 MBTPS1 MCTP2 MECOM MED12 MEG3 MEGF8 MEIS2 MGAT2 MGP MIA3 MIR140 MIR17HG MKKS MMP23B MRAS MRPS16 MSX2 MTOR MYCN MYMK MYMX MYSM1 NBAS NEK1 NELFA NEPRO NEUROD2 NEXMIF NFIX NIN NIPBL NKX2-5 NKX2-6 NLRP3 NOG NOTCH1 NOTCH2 NPR2 NRAS NSD2 NSUN2 NXN OBSL1 OFD1 PAH PALB2 PAPSS2 PAX3 PCNT PCYT1A PDE3A PDE4D PDE6D PDGFRB PDPN PGAP2 PGAP3 PGM3 PHF6 PIGB PIGF PIGG PIGK PIGL PIGN PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3C2A PIK3CA PIK3CD PIK3R1 PITX1 PKDCC PLAG1 PLCB3 PLXND1 PNKP PNPLA6 POC1A POGZ POLA1 POMP POP1 POR PORCN POU1F1 PPM1D PPP1CB PPP3CA PRDM16 PRKACA PRKACB PRKAR1A PRKAR1B PRKCZ PRKG2 PRMT7 PROP1 PSMD12 PTCH1 PTCH2 PTDSS1 PTEN PTH1R PTHLH PTPN11 PUF60 RAB23 RAB3GAP2 RAC1 RAD21 RAD51C RAF1 RAG1 RAG2 RAI1 RASA2 RB1 RBBP8 RBM8A RBPJ RDH11 RECQL4 RERE REV3L RHOA RIN2 RIPK4 RIT1 RLIM RMRP RNU4ATAC ROBO1 ROR2 RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RSPRY1 RTL1 RUNX2 RYR3 SALL4 SCN1B SCN2A SCNM1 SCUBE3 SDHB SDHC SDHD SEC23B SEMA3E SETBP1 SF3B4 SH3PXD2B SHOC2 SHOX SIK1 SIK3 SIL1 SIN3A SKI SLC25A22 SLC25A24 SLC26A2 SLC2A1 SLC32A1 SLC35C1 SLC35D1 SLURP1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SMC3 SMG9 SNRPN SNX14 SOS1 SOS2 SOX11 SOX4 SOX9 SPART SPECC1L SPEN SPRED2 SRCAP STAMBP STX16 SUFU SVBP TAF1 TASP1 TBC1D24 TBL1XR1 TBX1 TBX15 TBX22 TBX3 TBX5 TCF12 TCTN3 TELO2 TFAP2A TFAP2B TGDS TGFBR2 TLK2 TMEM216 TMEM67 TNNT3 TONSL TOPORS TPR TRIM8 TRIO TRIP11 TRPM3 TRPS1 TRPV4 TSR2 TTC21B TWIST1 TWIST2 UBE2T UBE4B UPF3B USF3 VAC14 VPS35L WAC WASF1 WASHC5 WDR11 WDR19 WDR35 WIPI2 WNT4 WNT5A YY1AP1 ZBTB20 ZDHHC9 ZFPM2 ZIC1 ZMIZ1 ZMPSTE24 ZMYM2 ZNF699 HP_SHORT_DISTAL_PHALANX_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DISTAL_PHALANX_OF_THE_5TH_FINGER ARID1B COL2A1 HNRNPR IGF2 SMARCB1 HP_SHORT_DISTAL_PHALANX_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DISTAL_PHALANX_OF_THE_THUMB BMPR1B FLNA GNAS KNSTRN MAP3K7 PIK3CD PTCH1 SALL4 HP_SHORT_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FACE AXIN2 EDA EDARADD FGFR1 GRHL3 IRF6 LRP6 MSX1 PAX9 POLR1B POLR1C POLR1D RUNX2 SUMO1 TCOF1 TGFA UBB WNT10A WNT10B HP_SHORT_FEMUR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FEMUR AGPS ALG12 AMMECR1 BHLHA9 CAMK2A COL11A1 COL2A1 CPLANE1 FGFR3 FLNB GDF5 IHH MTHFS POLR3A PUF60 RNU4ATAC SALL4 SERPINH1 SLC26A2 SLC31A1 SUCLG1 TAPT1 TBX15 TBX4 TGDS TNFRSF11A TRPV6 HP_SHORT_FIRST_METATARSAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FIRST_METATARSAL EP300 FGFR1 FGFR2 HOXA13 VPS35L HP_SHORT_FOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FOOT ADAMTSL2 ARL6 B3GLCT BBS1 BGN BMP2 BMPR1B BPNT2 BRD4 CAMK2G CASZ1 CCBE1 CCDC28B CCDC47 CDKL5 CENPE CEP120 CERT1 CHSY1 COG1 COL11A1 COL2A1 COL3A1 CTSK CUL4B DLK1 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A FAM50A FBN1 FBXL4 FBXO11 FGD1 FGFR1 FGFR2 FGFR3 FMR1 GABBR2 GABRD GALNT2 GDF5 GJA1 GPC3 GPC4 H4C3 HDAC4 HDAC6 HDAC8 HERC2 HNRNPR HSPG2 HTT HUWE1 IFT140 IFT172 IFT80 IGF1R IHH INPPL1 KCNAB2 KCNJ2 KCNJ5 KDM4B KDM5C KIAA0753 KIF5C LAS1L LIG4 LMBR1 LTBP3 LUZP1 MAGEL2 MAP3K7 MAPK8IP3 MASP1 MBD5 MECP2 MEG3 MKRN3 MMP23B MSL3 NDN NGLY1 NIPBL NOG NPAP1 NSUN2 NTNG1 OCA2 PDGFRB PDPN PIGL PIGN POC1A PPM1D PRDM16 PRKCZ PTH1R PWAR1 PWRN1 RAD21 RECQL4 RERE RMRP RNF2 RNU4ATAC RTL1 SATB1 SATB2 SHOX SIM1 SIN3A SKI SLC26A2 SLC35C1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON SPART SPEN TBCE TBL1XR1 TELO2 TONSL TRIP11 TRPS1 TRRAP TTC21B TUBB3 UBE2A UBE4B USP7 USP9X WDR19 WDR35 WDR81 WNT7A ZMYM2 HP_SHORT_GREATER_SCIATIC_NOTCH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_GREATER_SCIATIC_NOTCH FGFR3 GPC3 GPC4 SLC26A2 TRPV4 HP_SHORT_LINGUAL_FRENULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LINGUAL_FRENULUM ATP6V1B2 B3GLCT CDK13 DVL1 FREM1 KIAA0753 LMNA SMARCA2 TBC1D24 WDR35 WNT5A ZMPSTE24 HP_SHORT_LONG_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LONG_BONE ACVR1 ADAMTSL2 AFF3 AFF4 AGPS ALG12 ALG9 AMER1 AMMECR1 ANAPC1 APC ASXL2 ATP7A ATR B2M B3GALT6 B3GLCT BGN BHLHA9 BMP2 BMPR1B BPNT2 BRCA1 BRCA2 BRD4 BRIP1 CAMK2A CANT1 CCDC8 CCNQ CD96 CDC42BPB CEP120 CHD7 CHN1 CHST3 CHSY1 COG1 COG4 COL10A1 COL11A1 COL11A2 COL2A1 COL9A3 COMP CPLANE1 CREB3L1 CUL7 CWC27 DCHS1 DDR2 DDRGK1 DHODH DLK1 DNMT3A DONSON DVL1 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EIF4A3 EP300 ERCC4 ESCO2 EVC EVC2 EXOC6B EXT1 EXT2 EXTL3 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBN1 FBXL3 FERMT1 FGF10 FGF16 FGFR1 FGFR2 FGFR3 FIG4 FLNA FLNB FN1 FZD2 GDF5 GHR GLB1 GLI3 GNAS GNAS-AS1 GNPAT GNPTAB GPC6 GPX4 GSC HDAC4 HDAC8 HEPHL1 HHAT HINT1 HOXA13 HOXD13 HSPG2 HYLS1 IARS2 IFT122 IFT140 IFT172 IFT52 IFT80 IFT81 IHH IL6ST INPPL1 INTU IQCE JAG1 KCNJ2 KIAA0753 KNSTRN LAMA5 LBR LIFR LMBR1 LONP1 LRP4 LTBP3 LZTFL1 MAD2L2 MAFB MAP3K7 MATN3 MEG3 MET MTHFS MYSM1 NADSYN1 NEK1 NEK9 NEPRO NHS NIPBL NOG NPR2 OBSL1 P3H1 PALB2 PAM16 PCNT PCYT1A PDE3A PDE4D PEX5 PEX7 PHYH PIGS PIGT PIK3CD PLCB3 POC1A POLR3A POR PORCN PRKAR1A PRKG2 PRMT7 PTCH1 PTH1R PTHLH PUF60 RAB33B RAB3GAP2 RAD21 RAD51 RAD51C RBM10 RBM8A RBPJ RECQL4 RFWD3 RIPK4 RMRP RNU4ATAC ROBO1 ROR2 RPL13 RPL26 RPS19 RPS6KA3 RSPRY1 RTL1 RUNX2 SALL1 SALL4 SCARF2 SCUBE3 SERPINH1 SETBP1 SF3B4 SH3PXD2B SHH SHOX SIL1 SLC10A7 SLC26A2 SLC31A1 SLC35A2 SLC35B2 SLC35D1 SLC39A13 SLX4 SMAD4 SMARCA2 SMC1A SMC3 SMOC1 SNRPB SOX9 SRCAP SRY STX16 SUCLG1 SVBP TAPT1 TBX15 TBX3 TBX4 TBX5 TCF4 TCTN3 TGDS TMEM67 TNFRSF11A TNFRSF11B TONSL TRIP11 TRPS1 TRPV4 TRPV6 TTC21B TWIST2 UBE2T VPS13B VPS35L WDR35 WNT5A WNT7A XRCC2 XYLT1 ZIC3 ZNF407 ZSWIM6 HP_SHORT_LOWER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LOWER_LIMBS ADNP ALPL ARL6IP6 COL2A1 EXT1 EXT2 FN1 GNA11 LAMA5 MMP13 NOG PPIB SLC26A2 HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER GDF5 HOXD13 INTU MYCN RUNX2 SRCAP HP_SHORT_MIDDLE_PHALANX_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_THE_5TH_FINGER BMP2 BMPR1B DVL1 GATA1 GDF5 GJA1 GNB2 HOXD13 IGF2 MYCN NIN NOG PUF60 RBBP8 ROR2 RUNX2 SRCAP TFAP2B WNT5A HP_SHORT_MIDDLE_PHALANX_OF_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_TOE FGFR1 FGFR2 FGFR3 HOXD13 TRPV4 HP_SHORT_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NAIL ATP6V0A2 B3GALT6 DPYD FLNB GPC3 GPC4 IFT122 IFT43 IHH LMNA NOTCH2 NPR2 SOX9 WNT10A ZMPSTE24 HP_SHORT_NASAL_BRIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NASAL_BRIDGE FGFR3 NOTCH3 NR2F1 POMGNT1 TRPV6 HP_SHORT_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NOSE ABCC8 ABCD1 ABL1 ACTB ADAMTSL2 ADAT3 ADNP ADSL AFF4 AGA AGO1 ALDH6A1 ALG9 ANTXR1 APC ARID1A ARID1B ARID2 ARSL ASXL3 ATAD3A ATP6V0A2 ATP6V1A ATP6V1E1 ATRX AVP B3GALT6 B3GLCT BAZ1B BCAP31 BCL7B BLTP1 BMP2 BMPER BPNT2 BRAF BRD4 BUB1B BUD23 CACNA1G CANT1 CASK CAV1 CCDC22 CCDC88A CD96 CDCA7 CDH11 CDKN1C CDON CEP57 CHST14 CHSY1 CLIP2 CLP1 COG7 COL11A1 COL11A2 COL2A1 COX7B CREBBP CTCF DCPS DDB1 DDR2 DDX3X DEAF1 DHCR24 DIS3L2 DISP1 DLL1 DNAJC30 DNMT3B DPF2 DPM2 DPYD DPYSL5 DSE DVL1 DVL3 DYRK1A ECE1 EDA EFTUD2 EHMT1 EIF4H ELN ERCC2 EXTL3 FAM20C FAR1 FBN1 FGD1 FGF8 FGFR1 FGFR2 FKBP6 FLI1 FLII FLNA FLNB FOXG1 FOXH1 FOXP1 FUT8 FZD2 GAS1 GATA4 GBA1 GGCX GJA1 GLI2 GLI3 GLUL GMNN GNAI1 GNB2 GPC3 GPC4 GPC6 GRIN2A GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 HDAC6 HDAC8 HECTD4 HEPACAM HIC1 HNRNPK HOXB1 HRAS HSPA9 HUWE1 IARS2 IL1RAPL1 INPPL1 INTS1 IQSEC2 KCNJ11 KIF1A KIF7 KMT2A KRAS LIFR LIMK1 LMNB1 LONP1 LRP2 LRP4 LTBP3 MADD MAF MAP2K1 MAP2K2 MARS2 MBD5 MED13L MEF2C METTL27 MIR140 MLXIPL MN1 MOCS1 MOCS2 MPLKIP MTOR MYH3 MYMK MYMX NAA10 NALCN NARS2 NCAPG2 NCF1 NEDD4L NEXMIF NFIA NFIX NIPBL NODAL NPR2 NRAS NRCAM NXN PAFAH1B1 PAICS PAK3 PAM16 PARS2 PAX3 PDE4D PDGFRB PEPD PEX6 PGAP2 PGAP3 PHIP PIGF PIGN PIGO PIGT PIGU PIGV PLA2G6 PLAA PLCB3 PLOD3 POLA1 POLR1A POR POU1F1 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R5D PRKAR1A PRMT7 PRPS1 PTCH1 PTEN PTH1R PUF60 PURA PUS1 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAI1 RECQL4 RFC2 RFX7 RIPK4 RNF13 ROR2 RPS6KA3 RPS7 RSPRY1 SATB2 SC5D SCN4A SETBP1 SHH SHOC2 SIN3A SIX3 SLC12A6 SLC25A24 SLC26A2 SLC2A10 SLC35D1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMO SMOC1 SNRPN SON SOX11 SOX4 SPECC1L SPOP SPTBN1 STAMBP STX1A SUFU SYT1 TAPT1 TBC1D20 TBL1XR1 TBL2 TCF20 TCTN2 TCTN3 TDGF1 TGIF1 TMCO1 TMEM270 TMEM94 TONSL TRIO TRIP11 TRIP12 TRMT10A TRRAP TXNL4A UBE3B UBR1 USB1 VARS1 VPS33A VPS35L VPS37D VPS53 WAC WASHC5 WNT5A WNT7A YARS2 YWHAE ZBTB24 ZIC2 ZMPSTE24 ZMYM2 ZNF462 ZNF699 ZNHIT3 ZPR1 ZSWIM6 HP_SHORT_PALM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALM ADAMTSL2 ANKRD11 ANTXR2 ATP7A B3GLCT BCR BGN BHLHA9 CAMK2G CAMTA1 CCBE1 CHSY1 COG4 COL11A1 COL11A2 COL2A1 COL9A2 CRKL CRLF1 CUL4B DDR2 DPM1 DVL1 DVL3 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EVC EVC2 FBN1 FGD1 FGF9 FGFR1 FGFR2 FGFR3 FLNA FZD2 GATA1 GDF5 GPC3 GPC4 GPX4 HDAC4 HDAC6 HERC2 HNRNPR IFT80 IGF1R IHH INPP5K INPPL1 KAT6B KCNJ2 KDM4B KDM5C KLHL15 KRAS LMNA LTBP3 MAGEL2 MAP3K7 MAPK1 MAPRE2 MBD5 MKRN3 MRPS28 MSL3 NOG NPAP1 ORC1 PDGFRB PIGL PIK3R1 PPP2R3C PRKAR1A PTDSS1 PTH1R PUF60 PWAR1 PWRN1 RAB3GAP2 RAI1 RBPJ RECQL4 RMRP RNU4ATAC ROR2 RSPRY1 SCUBE3 SH3PXD2B SIL1 SIN3A SMAD4 SMARCA2 SNIP1 SNORD115-1 SNORD116-1 TBCE TBL1XR1 TCF4 TMEM53 TONSL TRIO TRIP11 TRPS1 WAC WDR35 WDR81 WNT5A YY1AP1 HP_SHORT_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALPEBRAL_FISSURE ADNP AFF3 ALDH1A3 ALX4 AUTS2 B3GLCT BCL11B BPTF BRCA1 BRCA2 BRIP1 CDK13 CEP57 CHD4 CHN1 CLTCL1 COG7 CREBBP DCHS1 DDB1 DDX3X DLK1 DONSON EP300 ERCC4 ERMARD EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO28 FOXP2 GJA1 GJA5 GJA8 H4C5 HNRNPH2 HNRNPR HUWE1 KANSL1 KAT6B KCNJ2 KCNJ5 KIF15 KMT2A KRAS LARP7 LIFR LMNA MAD2L2 MADD MAFB MAGEL2 MAPRE2 MEG3 MOGS MUSK MYCN NUAK2 ORC1 PALB2 PIEZO2 POLA1 POLR1A PPP1R12A PRKAR1B PRMT7 PUF60 RAD51 RAD51C RBM10 RBPJ RFWD3 RTL1 SALL4 SETBP1 SETD2 SIN3A SLC25A24 SLC2A10 SLX4 SMAD4 SMARCA2 SMC5 SMOC1 SMPD4 SNX14 SOX11 SOX6 SOX9 STAC3 STT3A TBX1 TBX15 THOC6 TMEM107 TUBB TXNL4A UBE2T UBE3B UGDH USP9X WAC XRCC2 ZBTB18 ZMPSTE24 ZNF148 HP_SHORT_PHALANX_OF_THE_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHALANX_OF_THE_THUMB ACVR1 BMPR1B BRD4 CANT1 DLK1 FANCI FLNA FZD2 GDF5 GNAS HDAC8 HOXA13 IHH KCNH1 KNSTRN LAMA5 MAP3K7 MEG3 NIPBL NOG PCNT PIK3CD PTCH1 RAD21 ROBO1 RTL1 SALL4 SETBP1 SMC1A SMC3 SOX9 SRCAP VPS35L HP_SHORT_PHILTRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHILTRUM ADAMTS3 ADAMTSL1 AFF3 ALDH6A1 ALG12 ALX4 ANKRD17 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 APC ARID1A ARID1B ARID2 ARVCF ASH1L AUTS2 BCAS3 BCL11B BPTF BRPF1 CCBE1 CCDC22 CDC42 CDC42BPB CDH11 CDH2 CDK13 CDON CHAMP1 CHD5 CKAP2L CLCN3 CNOT3 COL3A1 COMT CPLX1 CREBBP CTBP1 CTCF CUL4B DEAF1 DENND5A DHX37 DISP1 DLK1 DLL1 DOCK7 DPF2 DPYSL5 DVL1 DVL3 EDEM3 EMC1 EPB41L1 ERCC1 ERLIN2 EXT2 FAT4 FGF8 FGFR1 FGFRL1 FIG4 FLII FOXH1 FOXL2 FREM1 FZD2 GALNT2 GAS1 GATAD2B GLI2 GMPPA GNB1 GP1BB GRIA3 GRIA4 H4C11 H4C5 H4C9 HDAC6 HECTD4 HIRA HIVEP2 HNRNPH2 HOXB1 HUWE1 IFT57 IQSEC2 IREB2 ITCH JARID2 JMJD1C KAT6A KCNH1 KCNJ6 KCNK4 KCNK9 KDF1 KDM4B KIDINS220 KIF26A KIF7 KIFBP LARP7 LETM1 LRP4 LRRC32 MADD MAN1B1 MAP3K7 MAPK8IP3 MCTP2 MED12 MED12L MED25 MEF2C MEG3 MEIS2 MID2 MTX2 NAA10 NALCN NELFA NEXMIF NFIX NKAP NODAL NOG NONO NSD2 NSRP1 NSUN2 NXN OPHN1 PARS2 PCDHGC4 PDE4D PGAP2 PGAP3 PHF21A PHIP PIGG PIGL PIGO PIGV PIGW PIGY PITX2 POGZ POLR3A PPP1R15B PPP2CA PPP3CA PQBP1 PRKACA PRKACB PSMC3 PSMD12 PTCH1 PTH1R PUS7 RAB18 RAB3GAP1 RAB3GAP2 RAI1 RALA RNF2 RNU4ATAC ROR2 RREB1 RTL1 RUNX2 SATB2 SCN4A SEC24C SETBP1 SH3PXD2B SHH SHMT2 SIN3A SIX3 SLC35A1 SLC35A2 SMAD4 SMARCA2 SMARCA4 SMARCE1 SMC1A SMPD4 SMS SON SOX11 SPEN SPTBN1 SRCAP STAG2 STIM1 SUFU TAB2 TALDO1 TAOK1 TBC1D20 TBR1 TBX1 TCF3 TCF4 TCTN3 TDGF1 TFAP2B TGIF1 TMEM237 TMEM70 TMEM94 TMLHE TNPO2 TRAPPC9 TRIO TRIP12 TRMT10A TRPM3 TRRAP TSPAN7 TTC5 TWIST1 TWIST2 TXNL4A UBE3B UFD1 UNC80 UPF3B VAC14 VPS13B VPS51 WDR4 WLS WNT4 WNT5A ZBTB18 ZDHHC9 ZEB2 ZIC2 ZNF292 HP_SHORT_PROXIMAL_PHALANX_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER BMPR1B COL2A1 FGFR3 GDF5 IHH KIF15 MTOR HP_SHORT_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_RIBS ALG12 ALPL C2CD3 CEP120 COL11A1 COL11A2 COL2A1 CSPP1 CUL7 DDR2 DDRGK1 DLK1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EZH2 FGFR3 FIG4 FLNA GNPTAB GPC3 GPC4 GPX4 HSPG2 IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 INTU KIAA0586 LAMA5 LBR LMX1B MEG3 MYF5 NEK1 NKX3-2 NSDHL ORC1 ORC6 PAM16 PLCB3 PORCN PTCH1 PTH1R RNU12 RTL1 RUNX2 SCARF2 SETBP1 SF3B4 SLC26A2 SLC35D1 SMO TAPT1 TRIP11 TRPV4 TRPV6 UBA1 VAC14 WDR35 HP_SHORT_SPERM_FLAGELLA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_SPERM_FLAGELLA AK7 AKAP3 CATIP CCDC34 CFAP251 CFAP43 CFAP44 CFAP47 CFAP58 CFAP65 CFAP69 CFAP70 CFAP74 CFAP91 DNAH1 DNAH10 DNAH17 DNAH2 DNAH7 DNAH8 DNHD1 DRC1 DZIP1 FSIP2 IFT74 QRICH2 SSX1 TTC21A TTC29 USP26 WDR19 HP_SHORT_STEPPED_SHUFFLING_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STEPPED_SHUFFLING_GAIT ADH1C ATXN2 ATXN8OS COL2A1 DCTN1 DNAJC6 GBA1 GLUD2 MAPT MT-TT NR4A2 PODXL PRKAR1B SNCAIP SYNJ1 TBP TRPV4 HP_SHORT_STERNUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STERNUM ARID1B BUB1B FRA10AC1 GPC3 GPC4 LAMA5 LRP2 NFIX NIPBL NOG PCGF2 RBM10 SETBP1 TMEM231 HP_SHORT_TELOMERE_LENGTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TELOMERE_LENGTH ACD DNAJC21 MDM4 PARN POT1 RPA1 RTEL1 TERT TINF2 TP53 TYMS WRAP53 ZCCHC8 HP_SHORT_TERM_MEMORY_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TERM_MEMORY_IMPAIRMENT GSN MAPT PRNP RNASEH1 RRM2B TTPA HP_SHORT_THORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THORAX ACAN BMPER CCDC8 CEP120 COL2A1 CUL7 DLL3 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2 FGFR3 FLNA FREM2 GLI1 HES7 IARS2 IFT122 IFT140 IFT172 IFT52 IFT80 IHH KIAA0753 LFNG LTBP1 MBD5 MESP2 NADSYN1 NEU1 OBSL1 ORC6 PRKACA PRKACB PTH1R RIPPLY2 RMRP RNU12 SLC10A7 SLC26A2 SLC2A1 TBX6 TRIP11 TRPV4 TTC21B WDR19 WDR35 HP_SHORT_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THUMB ACAN ACVR1 ADA2 ADAMTS10 APC ATP6V1B2 BCOR BHLHA9 BICRA BMPR1B BRCA2 BRD4 BRIP1 CANT1 CHD7 CHST11 COL2A1 CPLX1 CREBBP CTBP1 DHCR7 DHODH DLK1 EIF4A3 EP300 ESCO2 FANCA FANCC FANCD2 FANCE FANCF FANCI FBN1 FGF10 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FZD2 GATA1 GDF5 GNAS HDAC8 HEATR3 HOXA13 IHH KCNH1 KDM1A KNSTRN LAMA5 LETM1 LMNB2 LRP4 LTBP2 MAP3K7 MED12 MEG3 MGP MIR17HG MYCN NELFA NIPBL NOG NSD2 PALB2 PCNT PIGG PIK3CD PKDCC PSMD12 PTCH1 RAD21 RAD51C RBM8A RECQL4 RIPK4 RNU4ATAC ROBO1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTL1 SALL4 SETBP1 SIN3A SLC26A2 SLX4 SMC1A SMC3 SOX9 SRCAP SVBP TFAP2A TRPM3 TSR2 UBE2T VPS35L WIPI2 ZMYM2 ZNF699 HP_SHORT_TIBIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TIBIA ALG12 BMPR1B CEP120 DLK1 DONSON EIF4A3 FLNB GDF5 GLI3 GPC6 HYLS1 IHH INTU LAMA5 LIFR LMBR1 MEG3 NEK1 RTL1 SHH SHOX SLC31A1 SLC35A2 SMOC1 TCTN3 ZSWIM6 HP_SHORT_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TOE ABCC9 ACVR1 ADA ADAMTS2 ADNP ALMS1 ALOX12B ALOXE3 ARSL ASAH1 ASXL1 B3GLCT BHLHA9 BMP2 BMPR1B BPNT2 C12orf57 CHD7 CHST11 CHSY1 COL2A1 COX4I1 CPLX1 CTBP1 DCLRE1C DHCR7 DNMT3A DYRK1A EIF4A3 EOGT EP300 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FLI1 FLNA GDF5 GHR GJA1 GNAS GPC3 GPC4 GPX4 GRIP1 HBA1 HBA2 HDAC4 HEATR3 HOXA13 HOXD13 IFT122 IFT140 IHH IL2RG IL7R KAT6A KCNH1 KCNJ8 KMT2A LETM1 LIG4 MGP MIA3 MYCN NELFA NOG NOTCH2 NPR2 NSD2 OFD1 PDE4D PHF6 PIGF PIGG PIGV PRKAR1A PRKG2 PTH1R PUF60 RAB3GAP2 RAG1 RAG2 RBPJ RMRP RNU4ATAC ROBO1 SALL4 SF3B4 SHOX SLC26A2 SMAD4 SOX9 SPECC1L SVBP TBL1XR1 TBX22 TBX3 TGDS TNNT3 TPR TRPV4 VAC14 WASF1 ZMIZ1 HP_SHORT_UMBILICAL_CORD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UMBILICAL_CORD ADGRG6 LMNA MTHFS MUSK PHGDH ZMPSTE24 HP_SHORT_UPPER_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UPPER_LIP AMPD2 ATRX CPLX1 CTBP1 EMC1 FGFRL1 FIG4 GRIA3 LETM1 NSD2 TWIST2 VAC14 HP_SHOULDER_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_DISLOCATION AEBP1 ARF1 ARFGEF2 B3GAT3 CHST3 COL1A1 COL1A2 COL5A1 COL5A2 ERMARD FLNA LMNA MAP1B NEDD4L NGLY1 SALL4 TMTC3 HP_SHOULDER_FLEXION_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_FLEXION_CONTRACTURE COL12A1 HSPG2 JAG2 KY MYH3 MYL11 RNU4ATAC SCN4A TNNT1 HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY ACTB DES FKRP FRG1 GNE LMNA MYH7 SGCB SMN1 SMN2 TPM3 TRIM32 TRPV4 UNC45B VCP HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS ABHD5 ACTA1 AGRN AK9 ANO5 BICD2 CFL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 CRYAB DNA2 DNAJB6 DOK7 DYSF FKRP FRG1 GALC GDAP1 GNE GYG1 HACD1 HNRNPDL ITGA7 LRIF1 LRP4 MAP3K20 MATR3 MT-TE MUSK MYH7 MYL2 MYOT PLIN4 PNPLA2 POLG POLG2 PSAP RAPSN RRM2B RYR1 SCN4A SELENON SLC25A4 SMN1 SMN2 TNNT1 TNPO3 TPM2 TPM3 TRIM32 TTN TWNK VCP HP_SHOULDER_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_PAIN B2M CD46 CFH CFI HELLPAR PMP22 TONSL HP_SHUFFLING_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHUFFLING_GAIT ADH1C ATXN2 ATXN8OS CLN3 COL2A1 CSF1R DCTN1 DNAJC13 DNAJC6 EIF4G1 FBXO7 GBA1 GIGYF2 GLUD2 KDM5C L1CAM LMNA LRRK2 MAPT MECP2 MT-TT NAA10 NR4A2 PODXL POLG PRKAR1B RAB39B SGCD SLC18A2 SNCA SNCAIP SYNJ1 TAF1 TBP TIMM8A TK2 TMEM106B TRPV4 VAPB VPS35 ZMPSTE24 HP_SHYNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHYNESS AP4B1 AP4E1 AP4M1 AP4S1 C12orf4 DPYD FMR1 NONO POLA1 RLIM SETD2 HP_SICK_SINUS_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SICK_SINUS_SYNDROME ABCC9 AKAP9 CACNA1C CACNA2D1 CACNB2 CASQ2 GNB5 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNJ8 MYH6 NPPA PKP2 RANGRF RYR2 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SGO1 SLMAP TRDN TRPM4 HP_SIDEROBLASTIC_ANEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIDEROBLASTIC_ANEMIA ABCB7 ALAS2 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HSPA9 ISCU LARS2 MAD2L2 PALB2 PNPO PUS1 RAD51 RAD51C RFWD3 SLC19A2 SLC25A38 SLX4 TRNT1 UBE2T WFS1 XRCC2 YARS2 HP_SILVER_GRAY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SILVER_GRAY_HAIR BLOC1S3 DSTYK LYST MLPH MYO5A RAB27A HP_SIMPLE_EAR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_EAR ASNS BICRA CAPN15 CCDC47 CREBBP DDB1 DHX16 EP300 EXOC2 GJA5 GJA8 GRIP1 GSC MED12 NANS NSRP1 POR SH3PXD2B SMARCD2 WDR35 YY1 HP_SIMPLE_FEBRILE_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_FEBRILE_SEIZURE AASS AP2M1 CHD2 CPLX1 DEPDC5 DYRK1A KCNQ2 KCNQ3 NEXMIF NPRL2 NPRL3 PRRT2 SCN1A SCN2A SCN3A SCN8A SEPSECS SLC2A1 SLC6A1 SYNGAP1 TBC1D24 TSEN15 TSEN2 TSEN34 TSEN54 WAC HP_SIMPLIFIED_GYRAL_PATTERN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLIFIED_GYRAL_PATTERN AHDC1 ANKLE2 ARID1A ARID1B ARID2 ASNS ASPM C2CD3 CASK CDC40 CDK5RAP2 CDK6 CENPE CEP152 CIT CLP1 COPB2 CSNK2A1 CUL4B DCHS1 DONSON DPF2 DYNC1I2 ERCC1 EXOC7 FKRP FOXG1 GFM2 GLS GMNN IER3IP1 KATNB1 KIF11 KIF14 LIPT2 LMNB1 LMNB2 LRPPRC MAST1 MED27 MPDZ NDE1 NDUFA6 NSRP1 OSGEP PDCD6IP PLK4 PNKP PPIL1 PRKDC PSAT1 QARS1 RNU12 RTTN SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMPD4 SON SOX11 SOX4 SPOP STAMBP STIL TMEM222 TRAIP TRAPPC12 TSEN2 TTC5 TUBB2A TUBB3 TUBGCP6 VLDLR WDR62 WWOX XRCC4 YRDC ZNF335 ZNF526 HP_SINGLE_LINEAGE_MYELODYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_LINEAGE_MYELODYSPLASIA ERBB3 HSCB HSPA9 SF3B1 TET2 HP_SINGLE_NARIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_NARIS CDON CSPP1 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL PLCH1 PTCH1 SHH SIX3 SMC1A SMCHD1 STAG2 STIL TDGF1 TGIF1 WNT3 ZIC2 HP_SINGLE_TRANSVERSE_PALMAR_CREASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_TRANSVERSE_PALMAR_CREASE ADNP AFF3 ALDH6A1 ANKRD11 APC ARID1B ARL3 ATR B3GLCT B4GALT7 BHLHA9 BICD2 BMP4 BMPR1B BRD4 BRF1 CCBE1 CCNQ CD96 CDC42BPB CDK19 CEP55 CEP57 CHST3 CILK1 CKAP2L CLCN7 COG1 COX14 COX7B CPLX1 CREBBP CSGALNACT1 CSNK2A1 CTBP1 CTCF DDX11 DHX30 DIS3L2 DLK1 DLX4 DOCK6 DPAGT1 DPH1 DPH2 EHMT1 EP300 ESCO2 EXT1 EXTL3 EZH2 FBXO28 FGD1 FGF9 FGFR2 FGFR3 FGFRL1 FIG4 FLNA FOXP1 G6PC3 GATA1 GDF5 GJA5 GJA8 GLE1 GLYCTK GNB2 GRIN1 H3-3A H4C9 HCCS HDAC4 HDAC8 IFT122 IFT43 IFT57 IGF1 ITCH JARID2 KAT6B KATNB1 KCNK9 KDM4B KMT2D LETM1 LIFR LMX1B LONP1 LTBP4 MAP1B MAP3K7 MCTP2 MED12 MED25 MEF2C MEG3 MEGF8 MSL3 MTFMT MYH3 NAA20 NALCN NBAS NDUFB11 NECTIN1 NEXMIF NGLY1 NIPBL NOG NSD2 NSDHL NUP107 NUP188 NXN PACS1 PDHA1 PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGS PKDCC PLAA PNPLA6 POLRMT PPP2CA PPP2R3C PPP3CA PTPRF PUF60 RAB11B RAD21 RBM10 RIN2 RNU4ATAC ROR2 RPL10 RPS23 RPS6KA3 RTL1 SEPSECS SET SETBP1 SLC25A12 SMAD2 SMARCA2 SMARCAD1 SMC1A SMC3 SMC5 SMOC1 SMPD4 SMS SPRTN SPTBN1 STAG1 STXBP1 TAF6 TASP1 TBX4 TCF12 TCF4 TELO2 TFAP2A TGDS THOC2 TMEM147 TNNI2 TNNT3 TOE1 TPM2 TRIM37 TRIM8 TRIO TRPS1 TSEN15 TSEN2 TSEN34 TSEN54 TWIST1 UBE3B UBR1 UBR7 UFC1 VAC14 VPS13B VPS51 WAC XYLT1 ZMYM2 ZNF292 ZNF462 HP_SINGLE_VENTRICLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_VENTRICLE CIROP GDF1 MAPKAPK5 NODAL NSDHL PLD1 PLXND1 SIX3 STRA6 TXNDC15 ZIC3 HP_SINUS_BRADYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_BRADYCARDIA AKAP9 ANK2 BVES CACNA1C CALM1 CALM2 CALM3 CAV3 GFM2 GNB2 HCN4 HEPHL1 KCNA5 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 LMNA MYO1H NOS1AP PRKAG2 SCN10A SCN4B SCN5A SNTA1 TBX5 TNNI3K TNNT2 TRDN HP_SINUS_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_TACHYCARDIA ABCC6 ARSB BANF1 DLST DNMT3A EPAS1 FH GAA KIF1B MAX MDH2 MYH7 MYPN NF1 PEX5 RET RYR1 SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TPM2 TPM3 VHL HP_SIRENOMELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIRENOMELIA AKT1 ATP6V1B2 DACT1 FGF20 GFRA1 GREB1L ITGA8 PTEN RET TBC1D24 WNT9B HP_SKELETAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_DYSPLASIA ABCC9 ACAN ACP5 ACTB ACTG1 AIFM1 AKT1 ALDH3A2 ALG3 ALG6 ALG9 ANAPC1 ANKH ANOS1 ARSB B3GALT6 B4GALT7 BGN BMPR1B CANT1 CCDC141 CCN6 CDH3 CDKN1C CEP120 CFAP410 CHD7 CHST3 COL10A1 COL11A1 COL11A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMP CRTAP CTSA CWC27 DCC DCHS1 DDR2 DDRGK1 DMP1 DNAJC21 DPYD DUSP6 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFL1 EIF2AK3 ENPP1 EPCAM EXOC6B EXTL3 FAT4 FEZF1 FGF17 FGF8 FGFR1 FGFR3 FLNA FLNB FLRT3 FN1 GDF5 GEMIN4 GJA1 GLB1 GLI3 GNAS GNS GPX4 HDAC6 HESX1 HS6ST1 HSPA9 HSPG2 IARS2 IDH1 IDUA IFT140 IFT172 IFT80 IHH IL17RD IL6ST KANSL1 KCNJ8 KIAA0753 KIF22 KIF7 KRAS LBR LIFR LONP1 LRRK1 LTBP3 MAP3K7 MATN3 MBTPS1 MMP13 NANS NDNF NEU1 NF1 NKX3-2 NLRP3 NMNAT1 NOTCH2 NPR2 P4HB PAM16 PAPSS2 PCYT1A PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PIK3C2A POLE POLR1B POLR1C POLR1D POP1 PROK2 PROKR2 PTEN PTH1R RECQL4 RMRP RNU4ATAC RPL10 RSPRY1 RUNX2 SBDS SEC23A SEC24D SEMA3A SF3B4 SFRP4 SLC26A2 SLC39A13 SMARCAL1 SMO SOX10 SPRED1 SPRY4 SRP54 STAC3 TACR3 TBXAS1 TCOF1 TGFB1 TMEM165 TMEM53 TMEM67 TONSL TRAPPC2 TREM2 TRIP11 TRPV4 TTC21B TYROBP UFSP2 VPS33A WDR11 WDR19 WDR35 XYLT1 HP_SKELETAL_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_ATROPHY AARS1 ABCA1 ABHD12 ACADM ACADSB ACTA1 ACTB ACTN2 ADARB1 ADCY6 ADK ADSL ADSS1 AFG3L2 AGL AGRN AGTPBP1 AIFM1 AIMP1 AIP AK9 ALDH18A1 ALS2 AMPD1 AMPD2 ANG ANO5 ANTXR2 ANXA11 AP1S2 APTX AR ARL6 ARMC5 ARSI ASAH1 ASCC1 ATAD3A ATL1 ATL3 ATM ATP13A2 ATP1A1 ATP7A ATP8A2 ATRX ATXN1 ATXN2 ATXN3 B3GALNT2 B4GALNT1 B4GALT7 B4GAT1 BAG3 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BICD2 BIN1 BMP1 BRAF BSCL2 BVES C19orf12 C2orf69 C9orf72 CA8 CADM3 CAPN1 CAPN3 CARS1 CAV3 CCDC115 CCNF CCT5 CD28 CD59 CDH23 CEP126 CEP19 CEP290 CFAP410 CFAP418 CHAT CHCHD10 CHMP2B CHN1 CHP1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CNBP CNTNAP1 COA7 COASY COG7 COG8 COL12A1 COL13A1 COL25A1 COL2A1 COL4A1 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COMP COQ2 CPLANE1 CPT1A CPT1C CRPPA CTLA4 CTNS CUL4B CYP27A1 CYP7B1 DAG1 DALRD3 DAO DARS2 DCAF8 DCTN1 DES DGUOK DHH DHTKD1 DIAPH1 DMD DNA2 DNAJB2 DNAJC19 DNM1L DNM2 DNMT3B DOK7 DPM3 DUX4 DUX4L1 DYNC1H1 DYSF EGR2 EMD ENTPD1 EPHA4 ERBB3 ERBB4 ERCC6 ERCC8 ERGIC1 ERLIN1 ERLIN2 EXOSC3 EXOSC8 EXOSC9 FAM111B FARS2 FBLN5 FBXL4 FBXO38 FGD4 FHL1 FIG4 FITM2 FKBP14 FKRP FKTN FLNA FLNC FLRT1 FLVCR1 FOXP2 FRG1 FUS FXN GAN GARS1 GBA2 GBE1 GBF1 GDAP1 GFPT1 GIPC1 GJB1 GLB1 GLE1 GLT8D1 GMPPB GNAS GNB4 GNE GPR35 GYG1 H4C11 HARS1 HEXB HINT1 HK1 HMGA2 HNRNPA1 HNRNPA2B1 HNRNPDL HSPB1 HSPB3 HSPB8 HSPG2 HUWE1 HYCC1 IBA57 IDUA IFRD1 IFT172 IFT27 IFT74 IGHMBP2 INF2 INPP5K INSR ISCU ITGA7 ITPR3 JAG1 JAG2 JPH1 KANSL1 KAT6A KBTBD13 KCNK9 KDM5C KIF1A KIF1B KIF1C KIF21A KIF5A KLC2 KLHL40 KLHL41 KLHL9 KRT14 KRT5 KY LAMB2 LAMP2 LARGE1 LDB3 LEMD3 LETM1 LIMS2 LIPE LITAF LMNA LMNB2 LMOD3 LRP12 LRP4 LRSAM1 LTBP4 LZTFL1 MAFB MAG MAP3K20 MARS1 MATR3 MB MCCC2 MDH2 MECP2 MED25 MEGF10 MFN2 MGME1 MINPP1 MKKS MKS1 MLIP MME MORC2 MPV17 MPZ MRE11 MST1 MSTO1 MT-ATP8 MT-TE MT-TL1 MTAP MTMR14 MTMR2 MTRFR MUSK MYBPC1 MYH14 MYH3 MYH7 MYMK MYMX MYO9A MYOD1 MYOT MYPN NAGA NALCN NARS2 NBN NDE1 NDRG1 NDUFA12 NDUFA8 NDUFA9 NDUFAF6 NDUFB8 NDUFS2 NDUFS4 NEB NEFH NEFL NEK1 NEMF NEU1 NEXMIF NGLY1 NIPA1 NOP56 NOTCH2NLC NPHP1 NPPA NR3C1 NT5C2 NUP88 OGDH OPA1 OPTN PAX7 PDK3 PDXK PEX10 PEX5 PEX6 PEX7 PFKM PFN1 PGAP1 PHF6 PHKA1 PHKA2 PHKB PHKG2 PHYH PIEZO2 PIGA PIK3R2 PIK3R5 PIP5K1C PLEC PLEKHG5 PLOD3 PLP1 PLXND1 PMP2 PMP22 PNKP PNPLA2 PNPLA6 PNPT1 POGLUT1 POLG POLR2A POLR3A POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 PON1 PON2 PON3 PPARGC1A PRPH PRPS1 PRUNE1 PRX PSMB8 PSMG2 PTEN PTRH2 PUS1 PYCR2 PYGM PYROXD1 RAB7A RAI1 RAPSN RBCK1 RBM28 RECQL REEP1 RETREG1 REV3L RILPL1 RNASEH1 RNF170 RPS6KA3 RRM2B RTN2 RXYLT1 RYR1 RYR3 SACS SALL4 SBF1 SBF2 SCAPER SCLT1 SCN4A SCN5A SCN9A SCO2 SCYL1 SCYL2 SDCCAG8 SDHA SDHAF1 SDHB SDHD SELENON SEMA4D SEPTIN9 SETX SFXN4 SGCA SGCB SGCD SGCG SH3TC2 SIGMAR1 SIL1 SLC12A6 SLC16A2 SLC18A3 SLC25A1 SLC25A19 SLC25A21 SLC25A4 SLC25A46 SLC33A1 SLC39A13 SLC46A1 SLC52A2 SLC52A3 SLC5A6 SLC5A7 SLC7A7 SLC9A6 SMCHD1 SMN1 SMN2 SMPD1 SNAP25 SOD1 SOX10 SPART SPAST SPEG SPG11 SPRTN SPTBN4 SPTLC1 SPTLC2 SQSTM1 STAC3 STAT1 STIM1 STING1 STUB1 SUCLA2 SUCLG1 SURF1 SVBP SYNE1 SYNE2 SYT2 TAF15 TARDBP TBC1D23 TBCD TBCE TBCK TBK1 TCAP TCF4 TDP1 TFG TGFB1 TIA1 TIMM8A TIMMDC1 TK2 TMEM43 TMTC3 TNFRSF1B TNNT1 TNR TNXB TOE1 TOR1AIP1 TP53 TPI1 TPM2 TPM3 TRAPPC11 TREM2 TRIM2 TRIM32 TRIP4 TRPV4 TTC19 TTC8 TTN TTPA TUBA1A TUBB2B TWNK TYMP UBA1 UBAP1 UBQLN2 UNC13A UNC45B USP48 USP8 VAMP1 VAPB VCP VLDLR VMA21 VPS13A VPS13D VRK1 VWA1 WARS1 WARS2 WASHC5 WDPCP WDR81 WNK1 WRN YARS1 YARS2 YY1 ZBTB20 ZC4H2 ZFYVE26 HP_SKELETAL_MUSCLE_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_HYPERTROPHY ABCC8 ACTB AFF4 AGA AGPAT2 AIP AKT1 ALG3 ALG6 ALG8 AMPD2 ANO5 AR ARCN1 ARID1A ARSB ATP2A1 ATP6V1B2 ATRX BAZ1B BCL7B BIN1 BSCL2 BUD23 CAPN3 CAV1 CAV3 CAVIN1 CCDC47 CDCA7 CDKN1C CHCHD10 CIDEC CIZ1 CLCN1 CLIP2 CPSF3 CRPPA CUL4B DAG1 DHX16 DLK1 DMD DNAJC30 DNM2 DNMT3B DPM3 DUOX2 DUOXA2 DVL1 DYSF EHMT1 EIF4H ELN ERLIN2 FDX2 FHL1 FIBP FKBP6 FKRP FKTN FOS FOXE1 FOXG1 FRG1 FUCA1 GAA GATA1 GLB1 GMPPB GNE GNPTAB GNS GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUSB HELLS HESX1 HEXB HNRNPK HRAS HS2ST1 HSPG2 HYMAI IDS IDUA IFT140 IGF2 IL6ST INPP5E INSR IPO8 IYD JAG2 KCNA1 KCNH1 KCNJ11 KCNMA1 KCNN3 KCNQ1 KCNQ1OT1 KLLN LAMA2 LARGE1 LHX3 LHX4 LIMK1 LIMS2 LIPE LMNA LTBP4 MAN2B1 MAN2C1 MAP3K20 MBD5 MED13L MEG3 METTL27 MICU1 MLXIPL MPZ MSTN MT-TE MTMR14 MYF6 MYH7 NCF1 NEK9 NKX2-1 NKX2-5 PAX8 PEX1 PIGS PIGW PIK3C2A PIK3CA PLAGL1 PLEC PLIN1 PMP22 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POP1 POPDC3 POU1F1 PPARG PQBP1 PRKAG2 PROP1 PRPS1 PSMB8 PTEN RASA1 RFC2 RMRP RNF125 ROR2 RTL1 RYR1 SCN4A SDHB SDHC SDHD SEC23B SETBP1 SGCA SGCB SGCD SGCG SHOX SLC25A1 SLC26A4 SLC5A5 SMAD4 SMARCA4 SMARCB1 SMN1 SNIP1 SNRPN SNX14 SPG11 SRY STT3A STX1A TBCK TBL2 TCAP TG THRA TMEM270 TPO TRAF3IP2 TRMU TSHB TSHR TTN UBE3A UNC45B USF3 VAPB VPS33A VPS37D WNT5A ZBTB24 ZEB2 ZFP57 HP_SKELETAL_MYOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MYOPATHY ALDOA COMP HADHA HADHB MT-TE PNPLA2 SDHA SDHAF1 SDHB SDHD TAFAZZIN HP_SKEWFOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKEWFOOT ATP1A2 ATP1A3 CACNA1A NDRG1 SLC1A3 SLC26A2 HP_SKIN_APPENDAGE_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_APPENDAGE_NEOPLASM APC CREBBP CTNNB1 DICER1 EP300 FLCN GJB2 GJB6 KEAP1 KLLN MAD1L1 MLH1 MSH2 PTEN SEC23B WNT10A HP_SKIN_DIMPLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_DIMPLE AEBP1 AFF3 ALPL ANK1 ARID1B ASXL1 ATIC B3GLCT B9D2 BAP1 BAZ1B BCL7B BICD2 BUD23 CAMK2G CAPN15 CCL2 CD96 CDK10 CLIP2 COL25A1 COLEC10 COX7B CPLX1 CTBP1 CTCF DCHS1 DEAF1 DHCR7 DHPS DICER1 DNAJC30 DPAGT1 DVL1 DVL3 DYRK1A EBP EIF4H ELN EPHB4 ERGIC1 EXTL3 FANCB FANCF FAT4 FGFRL1 FKBP6 FUZ FZD2 GNB2 GRB10 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCCS HIC1 HNRNPK HOXA13 IL6ST KANSL1 KCNK9 KIF15 KMT2A LETM1 LIFR LIG4 LIMK1 MAN2C1 MASP1 MED12 METTL27 MLXIPL NADSYN1 NCAPG2 NCF1 NDUFB11 NELFA NSD2 NSUN2 NXN ODC1 OTUD6B PAFAH1B1 PIGG POLA1 PRMT7 PRR12 PSMD12 RAB23 RFC2 RMRP ROR2 RPL10 SCARF2 SCYL2 SETD5 SHANK3 SMC5 SMG9 SMOC1 SOX9 SPOP STX1A SUGCT TAF1 TBL2 TBX4 TBXT TCF4 TMCO1 TMEM270 USP9X VANGL1 VANGL2 VPS37D WLS WNT5A YWHAE ZIC3 ZNF699 HP_SKIN_EROSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_EROSION ARL6IP6 ATP2C1 COL2A1 COL7A1 CSTA DSP ECM1 EPHB4 GATA1 GNA11 ITGB4 KIT KRT1 KRT10 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMNA NAXE PLEC PPOX RIPK4 TGM5 UROD UROS ZMPSTE24 HP_SKIN_NODULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_NODULE ABCA1 ABCC6 ABCG8 ACVR1 AKT1 ANTXR2 APC APOA1 APOA2 APOB APOE ASAH1 ATP2A2 B2M BCL2 BCL6 BRAF BTNL2 C4A CCR1 CDK4 COL1A1 COL3A1 COL5A1 COL5A2 COL7A1 CTNNB1 CYLD CYP27A1 DACT1 DDIT3 ECM1 ENPP1 EPHX2 ERAP1 FAS FBN1 FERMT3 FGFR1 FGFR2 FUS G6PC1 GHR GJB2 GJB6 GLA GLMN GLS GNAS HLA-B HLA-DRB1 HMGA2 IARS2 IDH1 IDH2 IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R INSR KIF11 KIF1B KIT KLLN KLRC4 KRAS LDLR LEMD3 LPL LSS LTV1 MC1R MDM2 MEFV MLX MMP14 MMP2 MYSM1 NAGA NOTCH3 NRAS OCRL PCSK9 PDE11A PDGFB PDGFRB PIK3CA POMP PORCN PPP1R17 PRKAR1A PTEN PTH1R PTPN11 RAF1 SALL1 SDHB SDHC SDHD SEC23B SLC37A4 SPRED1 STAT4 TEK TLR4 TNFRSF11A TNFRSF11B TSC1 TSC2 TTPA UBAC2 USF3 HP_SKIN_PICKING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PICKING CHD5 CNTNAP2 HDAC4 HTR2A KMT2E MAGEL2 NDN OCA2 SIM1 SLC6A4 SNRPN USP7 HP_SKIN_PIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PIT ANK1 ATP2A2 AUTS2 B3GLCT CIB1 CITED2 CPLX1 CTBP1 DICER1 EDN1 EDNRA EIF2AK3 EYA1 FGFR2 FGFRL1 FLNA FLT4 GATA4 GATA5 GATA6 GDF1 GJA5 GNAI3 GPC3 GPC4 GRHL3 GSC H4C9 HK1 HNRNPK IRF6 JAG1 KAT6A KCNJ2 KDM6A KDR KMT2D KRT5 LETM1 LRP1 MED12 MID1 MITF MSX1 NECTIN1 NKX2-5 NKX2-6 NPHP3 NSD2 OFD1 PAX1 PLCB4 POFUT1 POGLUT1 POLR1D PPP1CB PSENEN PTCH1 PTCH2 RAB23 RIPK4 SALL1 SIX1 SMO SPECC1L STAG2 SUFU SYK TBX1 TFAP2A TP63 TRPM3 UBE2A WBP11 XYLT2 ZFPM2 ZNF462 HP_SKIN_PLAQUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PLAQUE ADA2 AP1S3 ATP2A2 BTNL2 CARD14 CD28 CFTR CIB1 COL2A1 COL7A1 CTLA4 EBP ECM1 GJB2 GJB4 GJB6 GLMN HAVCR2 HLA-DRB1 IDH1 IFNG IL36RN IL7 KDSR KIT KRT10 KRT14 KRT5 KRT83 LAMA3 LAMB3 LAMC2 LDHA LORICRIN MEFV MPDU1 PSMB8 RASA1 SDHD TMC6 TMC8 TNFRSF1B TRPM4 TSC1 TSC2 UBA1 HP_SKIN_RASH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_RASH ABCB11 ABCB4 ABCC6 ACP5 ADA ADA2 AK2 ANK1 APOA1 ARHGEF2 ARPC1B ASXL1 ATP8B1 B2M BANK1 BLK BLM BLNK BTD BTK BTNL2 C1QB C1QC C4A C4B CASP10 CBL CD28 CD79A CD79B CDK10 CIC CIITA CLEC7A CLTRN COX4I2 CR2 CTLA4 CYBA CYBB DCLRE1C DNAJC21 DNASE1 DNASE1L3 EFL1 ELF4 ENPP1 EPB42 ERCC2 ERCC3 ERCC4 ERCC5 ETS1 FCGR2A FCGR2B FCGR3B FGA GJA1 GJB3 GJB4 HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS IFIH1 IFNG IGHG1 IGHG2 IGHM IGKC IGLL1 IKBKG IL10 IL17F IL17RA IL17RC IL1RN IL2RG IL6 IL6ST IRAK1 IRF5 ITGAM JAK3 JAZF1 KDSR KIAA0319L KIT LACC1 LBR LCP2 LEMD3 LMBRD1 LPIN2 LRRC8A LYST LYZ MALT1 MECP2 MEFV MIF MVK NAXD NCF1 NCF2 NLRC4 NLRP12 NLRP3 NOD2 NR1H4 OTULIN PDCD1 PDGFRA PIK3R1 POMP PRF1 PRTN3 PSMB10 PSMB4 PSMB9 PTPN22 PTPRC PXK RAG1 RAG2 RELB RFX5 RFXANK RFXAP RIPK1 RUNX1 SAT1 SBDS SDHA SDHB SDHC SLC39A7 SLC4A1 SLC6A19 SMARCAD1 SPI1 SPINK5 SPP1 SPTA1 SPTB SRP54 SRSF2 STAT3 STAT4 STING1 STX11 STXBP2 SYK TCF3 TEK TET2 TLR7 TNFAIP3 TNFRSF1A TNFRSF1B TNFSF4 TNIP1 TOP3A TRAF3IP2 TREX1 UBE2L3 UNC13D USB1 ZAP70 ZNFX1 HP_SKIN_TAGS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_TAGS AKT1 ALX1 ALX3 ANKRD11 ANTXR1 ARID1B B3GLCT BCOR BRF1 CCDC22 CHD7 CHN1 COL2A1 CPLX1 CTBP1 CTNND2 DACT1 DPYSL5 EDN1 EDNRA EFTUD2 EXT2 EYA1 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FLCN FLNB FN1 GNAI3 GPC3 GPC4 H4C3 H4C5 H4C9 HNRNPU IRX5 KDM6A KIF7 KMT2D KRAS LETM1 LRP5 MAFB MED12 MED13L MSL3 NAA10 NSD2 NSMCE2 ODC1 PIGS PIK3CA PLCB4 POLR1B POLR1C POLR1D PRMT7 PTCH1 PTEN PUF60 RIPK4 SALL1 SALL4 SEMA3E SEMA5A SF3B2 SF3B4 SIX1 SIX5 SMARCA2 SNRPN STAG2 SVBP TASP1 TCOF1 TMEM260 TXNL4A UBE3B VPS13B VPS35L WASHC5 WBP11 WLS ZNF668 HP_SKIN_ULCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_ULCER ADA2 AK2 ANK1 ANTXR2 AQP5 ATL1 ATL3 ATRX BMS1 BRAF BTK CAV1 CCN2 CCR6 CCT5 CD28 CDH23 CLEC7A CLPB COL1A1 COL3A1 CTC1 CTLA4 CYBA CYBB CYBC1 DKC1 DLL4 DOCK8 ELANE EPB42 EPHB4 F12 GBA1 GBE1 GFI1 GNAQ HAVCR2 HBB HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 IDH1 IDH2 IKBKG IL12B IL17F IL17RA IL17RC IL6ST IRF5 ITGB2 ITGB4 KIAA0319L KIF11 KIF1A KRT1 KRT10 LAMA3 LBR LMNA LYST MBTPS2 MEFV MLX MPV17 NCF1 NCF2 NCF4 NFKB1 NGF NHP2 NOD2 NOP10 NOTCH2 NOTCH3 NPM1 NR3C1 NTRK1 OCRL OTULIN P4HA2 PARN PDGFB PDGFRB PEPD PERP PGM3 PIGL PLEC PROS1 PRTN3 PSTPIP1 PTH1R PTPN22 RASA1 RETREG1 RTEL1 SBF2 SCN9A SLC39A4 SLC4A1 SPTA1 SPTB SPTLC1 SPTLC2 SRP19 SRP54 STAT3 TAP1 TAP2 TAPBP TCIRG1 TERC TERT TINF2 TNFRSF1B TP53 TP63 TRAF3IP2 TREX1 TRPV3 TYMS UBA2 USB1 USP48 USP8 WAS WDR1 WIPF1 WNK1 WRAP53 WRN HP_SKIN_VESICLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_VESICLE ATP2A2 ATP2C1 COL7A1 CTC1 DKC1 DSC3 IL6ST KRT5 MEFV NHP2 NOP10 NPM1 PARN PLEC POFUT1 POGLUT1 PPOX PSENEN RTEL1 SLC35C1 STAT3 TERC TERT TINF2 TYMS USB1 WRAP53 HP_SKULL_ASYMMETRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKULL_ASYMMETRY COLEC11 FGFR2 FTO MASP1 RAD21 RSPRY1 TWIST1 HP_SLANTING_OF_THE_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLANTING_OF_THE_PALPEBRAL_FISSURE AARS1 ABAT ABCA5 ABL1 ACSL4 ACTB ACTG1 ACTL6B ADAMTS2 ADAMTS3 ADAMTSL2 ADARB1 ADAT3 ADNP AFF4 AGO1 AGO2 AGR2 AHDC1 AKT1 ALDH1A2 ALDH6A1 ALG2 ALX4 AMMECR1 AMPD2 ANK1 ANKLE2 ANKRD11 ANKRD17 AP1S1 AP3B1 AP3B2 AP4E1 APC APC2 ARCN1 ARHGEF2 ARID1B ARID2 ARL6 ARV1 ARVCF ASPH ASPM ASXL1 ASXL3 ATAD3A ATP1A2 ATP1A3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATR ATRIP ATRX AUTS2 B3GAT3 B3GLCT BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCL11B BCORL1 BGN BICRA BLTP1 BMP2 BMPR1A BPTF BRAF BRCA1 BRCA2 BRIP1 BRPF1 BUB1 BUB1B BUB3 C12orf57 C2CD3 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2A CAMTA1 CASK CBL CCDC115 CCDC22 CCDC32 CD96 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK19 CDK5RAP2 CDK6 CELF2 CENPE CENPJ CENPT CEP135 CEP152 CEP19 CEP290 CEP57 CEP63 CERT1 CFAP418 CHAMP1 CHD1 CHD4 CHD5 CHD7 CHD8 CHRNA7 CHRNG CHST14 CHST3 CIT CKAP2L CLCN3 CLCN4 CLTC CNKSR2 CNOT2 CNOT3 CNTNAP2 COG1 COG7 COL11A1 COL11A2 COL3A1 COL5A1 COL9A3 COLEC10 COLEC11 COMT COPB1 COPB2 CPLX1 CREBBP CRTAP CSGALNACT1 CTBP1 CTNND2 CTU2 CUL4B CWC27 CYFIP2 DALRD3 DDB1 DDX59 DEAF1 DHCR24 DHCR7 DHDDS DHODH DHX30 DLG3 DLX4 DMXL2 DNA2 DNAJC21 DNM1 DOCK3 DOK7 DONSON DPF2 DPH1 DPH2 DPH5 DPM1 DPP9 DPYD DPYSL5 DSE DVL1 DVL3 DYNC1H1 DYNC1I2 DYNC2LI1 DYRK1A EBF3 EBP EDEM3 EED EEF1A2 EFEMP2 EFNB1 EFTUD2 EHMT1 EIF2AK3 EIF5A EP300 ERCC4 ESCO2 EXOC2 EXOSC2 EZH2 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBXL4 FBXO11 FBXO28 FBXO31 FGD1 FGF12 FGF13 FGF3 FGFR1 FGFR2 FGFR3 FHL1 FIBP FIG4 FLCN FLI1 FLII FLNA FOXG1 FOXP1 FREM1 FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAD1 GALNT2 GATA1 GATA4 GATAD2B GJA1 GJA5 GJA8 GLE1 GLI3 GMNN GNB2 GORAB GP1BB GPC3 GPC4 GRIN2D GSC H3-3A H4C11 H4C3 H4C5 H4C9 HBA1 HBA2 HBB HCN1 HDAC4 HEATR3 HECTD4 HERC1 HERC2 HHAT HIRA HIVEP2 HNRNPH1 HNRNPK HNRNPR HNRNPU HRAS HS2ST1 HS6ST2 HSD17B4 HUWE1 IDH1 IFT140 IFT172 IFT27 IFT57 IFT74 IGBP1 IGF1R IL11RA IL1RAPL1 IL6ST IQSEC2 JAG1 JARID2 JMJD1C KANSL1 KAT5 KAT6B KAT8 KCNA2 KCNB1 KCNE5 KCNH1 KCNMA1 KCNN3 KDM1A KDM4B KDM5B KDM5C KIF11 KIF14 KIF15 KIF7 KIFBP KMT2A KMT2D KMT2E KNL1 KPTN KRAS KREMEN1 LDHD LETM1 LIG4 LMBRD2 LMNA LMNB1 LRP2 LRP4 LTBP1 LZTFL1 LZTR1 MAD2L2 MAF MAGEL2 MAN1B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MASP1 MCM7 MCPH1 MCTP2 MECP2 MED12 MED12L MED13L MED25 MEF2C MEGF8 MEIS2 METTL5 MFSD2A MGAT2 MID1 MINPP1 MKKS MKRN3 MKS1 MN1 MPDZ MRAS MRPS2 MSL3 MTOR MTSS2 MVK MYCN MYH3 MYMK MYMX MYOD1 NAA10 NAA20 NALCN NARS1 NBN NCAPD3 NDUFS4 NECAP1 NECTIN1 NEK9 NELFA NEXMIF NF1 NFIA NFIB NFIX NOG NONO NOTCH2 NOTCH3 NOVA2 NPAP1 NPHP1 NR2F1 NRAS NRCAM NSD1 NSD2 NSDHL NSRP1 NTRK2 NUP37 NUP85 NUS1 NXN OCRL ODC1 OFD1 OGDHL ORC6 OSGEP OTUD5 OTUD6B P4HB PACS1 PACS2 PAFAH1B1 PAK3 PALB2 PARS2 PAX3 PCDHGC4 PCGF2 PCNT PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PGM2L1 PHC1 PHF8 PHIP PHOX2B PIGA PIGB PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3CA PITX1 PKDCC PLK4 PLOD1 PLPBP PMM2 POGZ POLA1 POLR1A POLR1B POLR1C POLR1D POLR3A POLR3GL PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R1A PPP2R5D PPP3CA PQBP1 PRDM13 PRKAR1B PRPS1 PRR12 PRRX1 PSMD12 PTCH1 PTEN PTPN11 PUF60 PURA PUS7 PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB11B RAB3GAP2 RAD21 RAD51 RAD51C RAF1 RAI1 RAPSN RASA2 RBBP8 RDH11 RECQL4 RERE RFWD3 RFX7 RIN2 RIPK4 RIT1 RLIM RNF135 RNU4ATAC ROR2 RPS19 RPS28 RPS6KA3 RRAS RRAS2 RREB1 RTTN RYR1 SARS1 SASS6 SATB1 SATB2 SC5D SCAPER SCLT1 SCN3A SCN4A SCN8A SCNM1 SDCCAG8 SEC24C SEC24D SEMA5A SEPTIN9 SET SETBP1 SETD1A SETD1B SETD2 SETD5 SF3B4 SH3PXD2B SHOC2 SIAH1 SIM1 SIN3A SKI SKIC3 SLC13A5 SLC19A3 SLC1A2 SLC25A24 SLC29A3 SLC2A10 SLC30A9 SLC38A3 SLC39A13 SLC45A1 SLC9A7 SLF2 SLX4 SMARCA2 SMC1A SMOC1 SMPD4 SMS SNAP29 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOS1 SOS2 SOX5 SPART SPATA5L1 SPECC1L SPEN SPOP SPRED1 SPRED2 SPTBN1 STAC3 STEEP1 STIL SUPT16H SUZ12 SYNGAP1 SYNJ1 SZT2 TAF1 TAF13 TASP1 TBCD TBCK TBR1 TBX1 TBX6 TCF4 TCOF1 TELO2 TFAP2A TFAP2B TFE3 TGDS TGFB2 TGFB3 THOC6 THUMPD1 TLK2 TMCO1 TMEM147 TMEM237 TNNI2 TNRC6B TOE1 TOR1A TRAIP TRAK1 TRAPPC10 TRAPPC14 TRIM32 TRIO TRIP12 TRIP13 TRMT10A TRPM3 TRRAP TSPEAR TSR2 TTC26 TTC8 TUBB TUBB3 TUBGCP2 TWIST1 TWIST2 UBA5 UBE2A UBE2T UBE3A UBE3B UBR1 UBR7 UFD1 UMPS UNC80 UQCC2 USP9X VAC14 VPS13B VPS35L WAC WARS1 WASF1 WASHC5 WDPCP WDR35 WDR62 WNT5A WWOX XRCC2 XRCC4 YWHAE YWHAG YY1 ZBTB20 ZC4H2 ZEB2 ZIC1 ZIC2 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND11 ZNF148 ZNF292 ZNF462 ZNF526 ZSWIM6 HP_SLEEP_APNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_APNEA ABCC9 AFF4 AGRN AHDC1 AIP ARCN1 ARL3 ARSB ASCL1 ASNS ASXL1 ATN1 ATP1A2 BICD2 BMP2 BRAF C2CD3 CA2 CACNA1C CACNA1I CACNA2D1 CCDC47 CDC42BPB CDK13 CEP57 CHAMP1 CHAT COL13A1 COL3A1 COLQ COQ2 CREBBP CTNNB1 CTSK DCTN1 DDB1 DKK1 DMD DNA2 DPH1 DPH2 DPH5 EDN1 EP300 EXOC2 EXT2 FBXO28 FGFR2 FGFR3 FLCN FXR1 GABRG2 GNAI3 GNE GNPTAB GPR101 GRB10 GRIN1 GRIN2A GSN GUSB H4C5 HERC2 HRAS IDS IDUA LAMB2 LARP7 LRPPRC LRRC32 LTBP3 MAGEL2 MCM3AP MED27 MKRN3 MOG MRPS34 MYO9A NACC1 NADK2 NALCN NCAPG2 NDN NDUFAF2 NDUFS2 NEFH NFIX NGLY1 NONO NOTCH3 NPAP1 OCA2 P4HTM PCGF2 PHOX2B PIGT PLCB4 POGZ PRKAR1B PRMT7 PRPH PRPS1 PRR12 PWAR1 PWRN1 RAB11B RAI1 RECQL4 RERE RET RPS6KA3 RUNX2 SATB2 SH3BP2 SIM1 SIN3A SKI SLC18A3 SLC25A1 SLC5A7 SNAP25 SNORD115-1 SNORD116-1 SNRPN SOD1 SPOP SRPX2 SYT1 SYT2 TCF4 TERT TNNT1 TRPV4 TSPYL1 TWIST1 UNC80 USP7 VAMP1 VPS51 ZBTB7A ZMYM2 HP_SLEEP_DISTURBANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_DISTURBANCE ABCB11 ABCB4 ABCC9 ACAT1 ACTA1 ADGRL1 ADH1C ADNP ADRB1 AFF4 AGA AGO1 AGRN AHDC1 AIFM1 AIP AKT1 ALDH4A1 ALG13 ALMS1 ANK3 AP3B2 APOE ARCN1 ARL3 ARNT2 ARSB ARX ASCL1 ASH1L ASNS ASPA ASXL1 ASXL3 ATAD1 ATAD3A ATN1 ATP10A ATP1A2 ATP7B ATP8B1 ATP9A ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS BAP1 BAZ1B BCL11A BCL7B BICD2 BICRA BMP2 BRAF BRD4 BSCL2 BUD23 C2CD3 CA2 CABP4 CACNA1C CACNA1I CACNA2D1 CAMK2A CAMK2B CARS1 CASK CCDC47 CDC42BPB CDK13 CDKL5 CDON CEP57 CHAMP1 CHAT CHCHD2 CHD8 CHKA CHRNA2 CHRNA4 CHRNB2 CIC CISD2 CLCNKB CLIP2 CLN3 CLN5 CNOT1 COA8 COL13A1 COL3A1 COLQ COQ2 CORIN CPOX CREBBP CRH CRY1 CSNK1D CSNK2A1 CTCF CTNNB1 CTSH CTSK DBH DCTN1 DDB1 DDC DEAF1 DEPDC5 DHCR7 DHX30 DISP1 DKK1 DLL1 DMD DMPK DMXL2 DNA2 DNAJC13 DNAJC30 DNAJC6 DNMT1 DOK7 DPH1 DPH2 DPH5 DPYS DUOX2 DYRK1A EDN1 EEF1A2 EHMT1 EIF3F EIF4G1 EIF4H ELN EMC10 EML1 EP300 EPG5 EPM2A ERCC4 ERCC6 ERCC8 EXOC2 EXT2 FARS2 FBP1 FBXL3 FBXO11 FBXO28 FBXO7 FGF8 FGFR1 FGFR2 FGFR3 FKBP6 FKRP FKTN FLCN FLII FLT1 FMR1 FOXE1 FOXG1 FOXH1 FRA10AC1 FTL FXR1 GABBR2 GABRB3 GABRG2 GALNT2 GAS1 GATAD2B GBA1 GCH1 GFAP GIGYF2 GJB1 GLI2 GLRA1 GLRB GLUD2 GNAI3 GNAO1 GNE GNPTAB GNS GPHN GPR101 GRB10 GRIA1 GRIA3 GRIN1 GRIN2A GRM7 GSN GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C5 HACD1 HCRT HDAC4 HDAC8 HDC HEPHL1 HERC2 HESX1 HEXB HGSNAT HIBCH HLA-DQB1 HLA-DRB1 HMBS HMGCL HRAS HTRA2 HTT HUWE1 IDS IDUA IFNG IL12A IL12RB1 IMPDH2 IQSEC2 IRF4 IRF5 ITGA7 KAT5 KAT6A KCNA1 KCNT1 KDM6B KIF11 KIF15 KIF21A KMT2A KMT5B LAMB2 LARGE1 LARP7 LIAS LIMK1 LRPPRC LRRC32 LRRK2 LTBP3 MAGEL2 MAP3K20 MAPT MBD5 MCM3AP MECP2 MED12L MED23 MED27 MEN1 METTL27 MFN2 MFSD8 MKRN3 MLXIPL MMEL1 MOG MRPS34 MT-TT MTFMT MTRR MUSK MYL2 MYO9A MYOD1 NAA10 NACC1 NADK2 NAGLU NAGS NALCN NCAPG2 NCF1 NDN NDP NDST1 NDUFAF2 NDUFS2 NEFH NEFL NEUROD2 NF1 NF2 NFIX NGLY1 NHLRC1 NIPBL NKX2-1 NKX2-5 NODAL NOL3 NONO NOTCH3 NPAP1 NR1H4 NR4A2 NSDHL NTNG1 NUP88 OCA2 OTX2 P2RY11 P4HTM PARK7 PAX8 PCGF2 PDE2A PDGFB PER2 PER3 PHIP PHKA2 PHKG2 PHOX2B PIDD1 PIGP PIGQ PIGT PIK3CA PINK1 PLCB4 PLCH1 PNKP PODXL POGZ POLR2A POMT1 POMT2 POU2AF1 POU3F3 PPT1 PRKAR1B PRKN PRMT7 PRNP PROKR2 PRPH PRPS1 PRR12 PSEN2 PTCH1 PTS PUF60 PWAR1 PWRN1 PYGL RAB11B RAC1 RAD21 RAI1 RAPSN RECQL4 RERE RET RFC1 RFC2 RFX7 RIC1 RNU7-1 RPS6KA3 RTTN RUNX2 SARDH SATB1 SATB2 SCN1B SCN2A SELENON SEPSECS SEPTIN9 SETBP1 SETD1A SETD5 SGSH SH3BP2 SHANK3 SHH SIK1 SIM1 SIN3A SIX3 SKI SLC12A3 SLC18A2 SLC18A3 SLC22A5 SLC25A1 SLC25A13 SLC25A22 SLC26A4 SLC2A1 SLC2A3 SLC32A1 SLC35C1 SLC5A7 SLC6A5 SLC9A6 SLITRK1 SMARCB1 SMARCC2 SMARCE1 SMC1A SMC3 SMO SNAP25 SNCA SNCAIP SNORD115-1 SNORD116-1 SNRPN SOD1 SOX2 SOX3 SPART SPIB SPOP SPR SPTBN1 SRPX2 STAG2 STIL STOX1 STUB1 STX1A SUCLG1 SUFU SUPT16H SYNGAP1 SYNJ1 SYT1 SYT2 TAF1 TANC2 TBC1D20 TBC1D24 TBK1 TBL2 TBP TCF20 TCF4 TDGF1 TDP2 TELO2 TERT TFAP2B TFE3 TGIF1 TICAM1 TIMELESS TLR3 TMEM270 TNFSF15 TNFSF4 TNNT1 TNPO3 TNRC6B TPM2 TPM3 TRAF3 TRAF7 TRANK1 TRIM8 TRIO TRPV4 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSHR TSPYL1 TTC5 TTI2 TUBA1A TUBB3 TWIST1 TWNK UBE3A UBE3C UCHL1 UNC80 UNC93B1 UQCC3 USP7 VAMP1 VPS13A VPS13C VPS35 VPS37D VPS4A VPS51 VRK1 WAC WDR4 WDR45 WDR73 WFS1 YY1 ZBTB20 ZBTB7A ZEB2 ZIC2 ZMYM2 ZNF365 HP_SLEEP_WAKE_CYCLE_DISTURBANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_WAKE_CYCLE_DISTURBANCE APOE ATP10A CAMK2A CDKL5 CDON CHD8 CSNK1D DHCR7 DISP1 DLL1 FBXL3 FGF8 FGFR1 FOXH1 GABBR2 GAS1 GLI2 GNS GRIA3 KIF15 NODAL PER2 PER3 PLCH1 PSEN2 PTCH1 RAI1 SHH SIX3 SMC1A SNRPN STAG2 STIL TAF1 TDGF1 TELO2 TGIF1 TIMELESS UBE3A ZIC2 HP_SLENDER_BUILD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_BUILD ACTA1 CIC COL6A1 COL6A2 COL6A3 DNA2 FARSB FBN2 GRIA3 HERC1 KANSL1 KBTBD13 KLHL41 MED12 MYPN NEB NONO NSDHL POLG POLR3A SARS1 STRADA TGFB1 TIMM50 TNNT1 TPM2 TPM3 TUBB4A TYMP UPF3B WRN HP_SLENDER_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_FINGER ABL1 ACTA2 ACTG2 AEBP1 ALG14 AMER1 ARVCF ASPH ASXL3 ATP2B1 ATRX B3GALT6 B4GALT7 BCR BGN BICRA BMP1 BMP15 BNC1 BPTF C1R CBS CDC42BPB CHRNG CHST14 CIC CNTN1 COL11A1 COL12A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COMT CPLX1 CRKL CTBP1 CTSC CYP26B1 DLG4 DPAGT1 DSE EFEMP2 EFTUD2 ELN FARSA FBLN5 FBN1 FBN2 FGFR2 FGFR3 FLNA FOXE3 FSHR GNB2 GP1BB H3-3B HERC1 HEY2 HIRA HNRNPH1 HNRNPH2 HYOU1 IPO8 JMJD1C KANSL1 KIF22 LAGE3 LETM1 LFNG LOX MAPK1 MAPK8IP3 MAT2A MED12 MFAP5 MRPS22 MSH4 MTM1 MYH11 MYLK NALCN NARS1 NELFA NFIX NKAP NPR2 NPR3 NR5A1 NSD2 NUP107 OSGEP OTUD6B PACS1 PAPPA2 PEPD PHF8 PIEZO2 PIGG PLOD1 POLR3H POR PPP1R15B PQBP1 PRDM5 PRKG1 PSMC3IP PTCH1 PTCH2 PYCR2 RECQL RREB1 SATB2 SCARF2 SEC24C SH2B1 SIN3A SKI SLC2A10 SLC9A6 SMAD2 SMAD3 SMAD4 SMARCE1 SMS SON SOX6 SPIDR STUB1 SUFU TBX1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TPR TRAPPC9 TRMT10A UBE3B UFD1 UNC80 UPF3B USP9X VPS13B WDR73 XYLT2 YRDC ZDHHC9 ZEB2 ZNF469 ZSWIM7 HP_SLENDER_LONG_BONE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONE ATP6V0A2 B3GALT6 BRF1 CCDC134 CCDC8 CDC45 CDC6 CDT1 COL1A1 COL1A2 CUL7 ERCC1 FAM111A FDFT1 FIG4 GLE1 GMNN HARS1 HNRNPH1 ITCH KCNJ2 LARP7 MAFB MGAT2 MUSK NFIX NSMCE2 OBSL1 ORC1 ORC4 ORC6 P3H1 PCNT PDGFRB PIGT PIGU PIK3R1 POLR3A PPP3CA RAB3GAP2 RSPRY1 SCARF2 SCN4A SON TBCE VAC14 HP_SLENDER_LONG_BONES_WITH_NARROW_DIAPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONES_WITH_NARROW_DIAPHYSES ATP6V0A2 B3GALT6 FIG4 HNRNPH1 VAC14 HP_SLENDER_TOE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_TOE B4GALT7 MTM1 PPP1R15B SMS TRMT10A VPS13B HP_SLOPING_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOPING_FOREHEAD ACER3 ADAT3 ANKLE2 ARX ASNS ASPM ASXL3 ATR B9D1 B9D2 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C2CD3 CAMK2B CASK CC2D2A CCDC88A CDK5RAP2 CDK6 CDKL5 CENPE CENPJ CEP135 CEP152 CEP290 CEP57 CEP63 CIT CNOT1 COASY COG4 COPB2 CPT2 CSPP1 CTSD DDX11 DMXL2 DYNC1I2 EIF2S3 EMG1 ERCC4 ERCC6 EXOC2 EXOSC5 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FKBP14 FKRP FKTN GLI3 GNAO1 GPKOW GRIN1 GRM7 IL11RA KAT6B KATNB1 KCNA1 KIF11 KIF14 KIF7 KIFBP KNL1 LARGE1 LIG4 LTBP4 MAD2L2 MCM7 MCPH1 METTL5 MFSD2A MGP MKS1 NBN NCAPD2 NCAPD3 NCAPH NDE1 NEUROD2 NFIX NHEJ1 NSUN2 NUP107 NUP37 OCLN OSGEP PAH PAK3 PALB2 PARS2 PCDHGC4 PCNT PHC1 PHF8 PHGDH PIGP PIGQ PLK4 PNKP POMT1 POMT2 PRUNE1 PSAT1 PYCR2 QARS1 RAD51 RAD51C RBBP8 RBM10 RELN RFWD3 RNU4ATAC RPGRIP1 RPGRIP1L RRP7A RTTN RUNX2 SARS1 SASS6 SC5D SCN1B SCN2A SEPSECS SETBP1 SIK1 SLC25A19 SLC25A22 SLC32A1 SLX4 SMPD4 STAG2 STAMBP STIL TAF13 TBCK TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRAPPC10 TRAPPC14 TRIM8 TRIP12 TRIP13 TSEN15 TSEN2 TSEN34 TSEN54 TTI2 TUBGCP2 TUBGCP4 TUBGCP6 TXNDC15 UBE2T UFC1 UGP2 VARS1 VIPAS39 VPS33B WARS1 WDR62 WDR73 WLS XRCC2 XRCC4 ZIC2 ZNF335 ZNF526 HP_SLOWED_SLURRED_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWED_SLURRED_SPEECH DNAJC6 MAPT PIDD1 PODXL SPG7 SYNJ1 HP_SLOWLY_PROGRESSIVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWLY_PROGRESSIVE ABHD12 ACTA1 ACTN4 ADSS1 AFG3L2 AIFM1 ALDH18A1 ALG14 ALG2 ALS2 AP4B1 AR ATP1A1 ATP6AP2 ATP7A BSCL2 C19orf12 CACNA1G CCDC88C CFL2 CHCHD10 CHKB CLCN5 CLN8 COA7 COL6A1 COL6A2 COL6A3 COX6A1 CPT1C CRPPA CRYAB CWF19L1 DAB1 DARS2 DCTN1 DDHD1 DNA2 DNAJB2 DNAJB6 DNAJC6 DNM1L DNM2 DPAGT1 DYNC1H1 DYSF DZIP1L EEF2 ELOVL5 EMD ERLIN2 FARS2 FAT2 FBXO38 FBXO7 FLNC FLVCR1 FN1 FRG1 FZD4 FZD6 GAN GARS1 GBE1 GDAP2 GJB1 GNB4 GRM1 GYG1 HEPACAM HNRNPA1 HNRNPDL HPCA HSPB1 HSPB3 IBA57 IGHMBP2 ITPR1 KBTBD13 KCNC3 KCND3 KIF1A KIF1B KY LAMA2 LMNA LRP12 LRP5 LRRK2 LRSAM1 MAG MAP3K20 MARS1 MCM2 MCM3AP MECP2 MFN2 MME MORC2 MPZ MTMR14 MTPAP MYH7 MYMK MYOT MYPN NDUFA13 NEFL NLRP3 NOL3 ORAI1 PANK2 PARK7 PDE8B PDK3 PDYN PEX10 PEX2 PINK1 PLD3 PLP1 PMP2 PMP22 PNPLA2 POGLUT1 POMT1 PRKCG PRX PYROXD1 REEP2 RETREG1 RFC1 RNASET2 RYR1 SCN9A SETX SIGMAR1 SLC25A4 SLC34A2 SLC5A7 SMN1 SPG11 SPG21 SPTBN2 STIM1 SURF1 SYNE1 SYT14 TBC1D24 TEAD1 TENM4 TFG TGM6 TIA1 TMEM240 TMEM43 TOR1AIP1 TPP1 TRIM32 TTN VMA21 VWA3B WARS1 WNK1 HP_SLOW_DECREASE_IN_VISUAL_ACUITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_DECREASE_IN_VISUAL_ACUITY AKT1 BAP1 BRAF CTNNB1 DNAJC30 DNM1L FA2H GUCA1A GUCY2D MFN2 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NDUFS2 NF2 PDGFB PIK3CA PRPH2 RAX2 RP1L1 SMARCB1 SMARCE1 SMO SUFU TERT TGFBI TRAF7 HP_SLOW_PUPILLARY_LIGHT_RESPONSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_PUPILLARY_LIGHT_RESPONSE AIMP1 CHRM3 CHRNA3 COL18A1 COL25A1 COLQ GALC KIF21A LAMB2 MPZ PHOX2A PMP22 PRPS1 PSAP TUBA1A TUBB2B TUBB3 TULP1 HP_SLOW_SACCADIC_EYE_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_SACCADIC_EYE_MOVEMENTS AFG3L2 AGTPBP1 ALS2 ANO10 ATP13A2 ATP2B3 ATXN1 ATXN2 ATXN7 ATXN8OS CHP1 COQ5 DARS2 DHX16 ELOVL5 FBXO7 GBA1 GJC2 MAPT MECR MRE11 NDUFA13 NOP56 PDYN PEX2 PIK3R5 PLD3 PRNP SCP2 SHMT2 SLC44A1 SNCA SYT2 TGM6 TMEM240 TNR VAMP1 VPS13A HP_SLURRED_SPEECH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLURRED_SPEECH ABCD1 ACOX2 ANO10 ATM ATP6AP2 ATP6V0A2 ATXN1 CA8 CACNA1A CHD8 CTSH CWF19L1 DARS2 DNAJC6 DPP9 EZH2 FASTKD2 FOXG1 GALC GLB1 GRIN2A HCRT HLA-DQB1 HLA-DRB1 ITPR1 KCNA1 KCND3 KCNQ2 LINGO1 MAPT MOG MT-TK MYORG NEU1 P2RY11 PDE8B PIDD1 PODXL POLG PRNP SCN2A SETD2 SLC1A3 SPART SPG7 SPTBN2 SUPT16H SYNJ1 TBC1D2B TNFSF4 TRANK1 VPS13A ZNF365 HP_SMALL_ANTERIOR_FONTANELLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_ANTERIOR_FONTANELLE ATR EBP HYMAI MYCN NFASC ORC1 PLAGL1 RNU4ATAC SLC25A19 VARS1 HP_SMALL_BASAL_GANGLIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BASAL_GANGLIA ADAR CNTNAP1 CYB5A CYB5R3 FDXR HIBCH MT-ATP6 NANS NUP54 NUP62 SLC19A3 TBCK TUBB3 VPS13A HP_SMALL_BOWEL_DIVERTICULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BOWEL_DIVERTICULA ALDH18A1 EFEMP2 ELN FBLN5 LTBP1 HP_SMALL_CEREBRAL_CORTEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_CEREBRAL_CORTEX ASPM CDK13 CDK5RAP2 CENPJ KIF14 MCPH1 TCF4 ZNF335 HP_SMALL_EARLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EARLOBE ABHD5 AHDC1 ARVCF CDC6 COL2A1 COMT EBF3 FIG4 FN1 GP1BB HIRA HNRNPH1 JMJD1C KAT6A KCTD1 POLR3A PTPRF RBM10 RREB1 SCARF2 SEC24C SLC35C1 SMS TBX1 UFD1 ZMYM2 HP_SMALL_EPIPHYSES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EPIPHYSES AIFM1 CHST3 COL11A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP DLK1 EIF2AK3 KIF22 MATN3 MEG3 MMP13 NANS RMRP RNU4ATAC RSPRY1 RTL1 SLC10A7 SLC35B2 TMEM67 TONSL TRIP11 HP_SMALL_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FACE ACTA1 ANTXR2 AP4E1 APC2 ATP7A ATR ATRIP AXIN2 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BLM BUD23 CENPE CENPJ CENPT CEP152 CFL2 CHD7 CHRNB1 CHST3 CLIP2 COG1 COL18A1 DDX11 DHX30 DNA2 DNAJC30 DSTYK EDA EDARADD EIF4H ELN ERCC4 EYA1 FBN1 FBXL4 FGFR1 FGFR3 FKBP6 FLNA FMR1 GHR GRHL3 GTF2I GTF2IRD1 GTF2IRD2 HECTD4 HYOU1 INSR IRF6 KBTBD13 KLHL41 KMT2D LIG4 LIMK1 LMNA LMOD3 LRP6 MAP2K2 MED12 METTL27 MICU1 MLXIPL MSX1 MTM1 MYH3 MYPN NALCN NCF1 NEB NFIX NGLY1 NHS NOG NOTCH3 NSD1 NSDHL NSUN2 NUP85 PAX3 PAX9 PBX1 PCNT PLK4 POLR1B POLR1C POLR1D PPP1R15B PQBP1 RBBP8 RECQL4 RFC2 RFX7 RLIM RUNX2 RYR1 RYR3 SATB2 SCN3A SEMA3E SETD2 SIN3A SIX1 SLC16A2 SLC37A4 SLC6A8 SLC9A6 SMS SOX9 STEEP1 STRADA STX1A SUMO1 TBL2 TBR1 TBX1 TCOF1 TGFA TMEM270 TNNI2 TNNT3 TPM2 TPM3 TRAIP TRIP11 TRMT10A TSPAN7 TUBB4A UBB UBE3B UPF3B VPS37D WNT10A WNT10B WRN ZDHHC9 HP_SMALL_FORAMEN_MAGNUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FORAMEN_MAGNUM ALDH18A1 CHD4 ELN FBLN5 FGFR3 FLNB HNRNPH1 IARS2 INPPL1 LBR RSPRY1 HP_SMALL_FOREHEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOREHEAD CDK5 DMXL2 IFT57 KATNB1 KDM5C NAA20 NDE1 NGLY1 PIGN RELN SNX14 TFAP2A HP_SMALL_FOR_GESTATIONAL_AGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOR_GESTATIONAL_AGE ABCB11 ABCB4 ABCC8 ACADVL ACTB ADA2 ALB ALG12 ALG8 ANAPC1 AR ASCL1 ASH1L ATP8B1 AUTS2 B4GALT1 BLM BSND BUB1B CAMK2B CARS1 CAV1 CCDC8 CCNQ CDAN1 CDKN1C CENPE CEP57 CLCNKA CLCNKB CLTCL1 CNOT1 CNTN1 COG7 COL1A1 COL1A2 COQ7 CORIN COX20 CPLX1 CREB3L1 CREBBP CRIPT CRLS1 CTBP1 CTCF CTNNB1 CUL7 CYB5A CYB5R3 DALRD3 DEF6 DLK1 DNAJC21 DNM2 DTYMK DYRK1A EIF2S3 EMG1 EP300 EPCAM ERCC2 ERCC5 ERCC6 FAM111A FANCA FANCC FANCD2 FANCE FARSB FBN1 FBXL4 FGFRL1 FIG4 FLCN FLT1 FZD4 GALK1 GATA1 GATA6 GCK GK GMNN GRB10 GRIN2A GTF2E2 GUF1 H19 HADHA HEATR3 HMGA2 HNF1A HSD11B2 HUWE1 HYMAI IARS1 IGF1 IGF2 IGHMBP2 INS INSR IRF6 KANSL1 KARS1 KCNJ1 KCNJ11 KIF22 LARS2 LETM1 LIG4 LMBRD1 LONP1 LRP5 LRPPRC MAGEL2 MAMLD1 MAPKAPK5 MBTPS1 MCTP2 MEG3 MRPS16 MSX1 MTO1 MUSK MYH3 NCAPD2 NCAPD3 NCAPH NDN NDP NDUFA6 NDUFB7 NDUFB8 NECTIN1 NGLY1 NKX3-2 NPHS1 NR1H4 NSD2 NSF NSMCE3 NSUN2 NUDT2 NUP188 OBSL1 OCA2 ORC1 OTUD5 PAM16 PAX2 PBX1 PDHA1 PET100 PEX2 PHOX2B PIK3C2A PIK3R1 PLAG1 PLAGL1 PNPLA6 POC1A POLR3A POR PPFIBP1 PPP1R15B PPP2R3C PQBP1 PRKAR1A PRPS1 PTCD3 PTF1A PTS PUF60 RBBP8 RECQL4 RET RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RTL1 SALL1 SBDS SHROOM4 SIN3A SIX2 SKIC2 SKIC3 SLC12A1 SLC16A2 SLC25A24 SLC26A2 SLC35C1 SMAD4 SMARCAL1 SNIP1 SNRPN SPR SRCAP SRP54 STAG1 STAMBP STOX1 SUCLA2 SYNE1 TAF13 TALDO1 TAPT1 TBL1XR1 TBR1 THOC2 THRB TIMM22 TMEM70 TONSL TP63 TRAIP TRMT1 TRMT10A TSHR TSR2 UBR1 UQCRC2 UQCRFS1 VARS2 VPS13B VPS33B WDR4 WDR73 YIPF5 YY1 ZFP57 ZNF335 ZNF668 ZNF699 HP_SMALL_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_HAND ADNP AFF4 ALG13 BPTF BRD4 CACNA2D1 CANT1 CCBE1 CDK10 CDKL5 CENPE CHUK CNOT3 COG1 COG4 COL11A1 COL3A1 CSGALNACT1 CTNND2 CTSK CUL4B DLK1 DPH1 DPH2 DPM1 DVL1 EVC EVC2 FAM50A FBN1 FBXO11 FBXO28 FGD1 FGFR2 FMR1 GABBR2 GALNT2 GJA1 HDAC4 HDAC8 HERC2 HPGD HTT HUWE1 IGF1R IGF2 KCNJ2 KCNJ5 KDM6A KIF5C KIFBP KMT2A KMT2D LAS1L LIG4 LTBP3 MAGEL2 MAPK8IP3 MCTP2 MECP2 MEG3 MIR140 MKRN3 MTFMT NALCN NDN NGLY1 NIPBL NPAP1 NSUN2 NTNG1 OCA2 ORC1 PCGF2 PIGN POC1A PPM1D PRIM1 PUM1 PWAR1 PWRN1 RAD21 RECQL4 RMRP RNF2 ROR2 RTL1 SATB1 SATB2 SEMA5A SIM1 SIN3A SLC6A17 SLCO2A1 SMARCD1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON SPECC1L TBCE TCF4 TELO2 TRPV4 TUBB3 UNC80 USP7 USP9X WDR81 WNT5A WRN XYLT1 HP_SMALL_INTESTINAL_DYSMOTILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_INTESTINAL_DYSMOTILITY CPOX LIG3 MYO1H POLG RRM2B TYMP HP_SMALL_INTESTINAL_POLYPOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_INTESTINAL_POLYPOSIS APC BMPR1A ENG MSH3 SMAD4 HP_SMALL_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_NAIL ACTL6B ADAMTSL2 AFF4 ALG12 ALG3 ALOX12B ALOXE3 APC2 ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BCL7B BHLHA9 BICRA BMPER BUD23 CCDC22 CDH1 CDIN1 CDKN1C CENPT CKAP2L CLIP2 COL11A1 COL11A2 COL7A1 CPT2 CWC27 DHX37 DLK1 DLL4 DNAJC21 DNAJC30 DOCK6 DPF2 DPH1 DPH2 DPYSL5 DYNC2LI1 EED EIF4H EIF5A ELN EOGT ERCC2 EVC EVC2 EZH2 FBXO28 FGFR1 FGFR2 FKBP6 FRAS1 FTO GDF5 GJB6 GLI1 GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HEPHL1 HMGA2 HOXA13 HRAS HUWE1 HYMAI IGF2 IHH IKBKG INPPL1 KCNH1 KCNMA1 KCNN3 KDM1A KIF15 KMT2D KRT5 LIG4 LIMK1 MBTPS2 MCTP2 MEG3 METTL27 MLXIPL MPLKIP MSX1 NCF1 NECTIN4 NEPRO NHP2 NOP10 NOTCH1 NSD1 NSDHL NSUN2 ODC1 OTUD5 PEX2 PGAP2 PGAP3 PIGA PIGB PIGF PIGL PIGN PIGO PIGV PIGW PIGY PLAG1 PLAGL1 PLEC POC1A POLR3A POP1 PPM1D PPP1CB PPP2R5D PRKACA PRKACB PRR12 PTDSS1 RAF1 RBPJ RERE RFC2 RIPK4 RLIM ROR2 RPS6KA3 RSPO1 RTL1 SCO2 SET SETD2 SHANK3 SHOC2 SHOX SIAH1 SLC25A24 SLC35D1 SMARCA4 SMARCAD1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SPEN STAMBP STX1A SUZ12 TBC1D24 TBL2 TBX3 TBX4 TCTN3 TELO2 TFAP2A TMEM222 TMEM270 TP63 TRRAP TSPAN7 TWIST1 TWIST2 VPS35L VPS37D WASHC5 WDR73 WLS WNT10A ZIC3 ZMYM2 ZNF462 HP_SMALL_PITUITARY_GLAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PITUITARY_GLAND COG2 FGF8 GHSR GNB2 HS6ST1 KIAA0753 MAGEL2 MAST3 MED12 NDE1 RBM28 SIM1 VSX1 HP_SMALL_PLACENTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PLACENTA CDKN1C HMGA2 IGF1 IGF2 LMNA MUSK PHGDH PLAG1 ZMPSTE24 HP_SMALL_SCROTUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_SCROTUM ALG12 ALX4 ANOS1 ARCN1 ATRX BLTP1 BMP4 CHRNG CILK1 DHCR7 ERCC2 FARSB FRAS1 FREM2 GLI3 GRIP1 HERC2 IER3IP1 IRF6 KAT6B LMX1B MAGEL2 MAPRE2 MED12 MKRN3 MYH3 NDN NECTIN1 NPAP1 NR5A1 OCA2 OPHN1 ORC6 PHF6 PNPLA6 POLR1B POLR1C POLR1D POR PWAR1 PWRN1 RAB18 RAB3GAP2 RFX7 RYR1 SETBP1 SIM1 SLC25A24 SNORD115-1 SNORD116-1 SNRPN SOX9 SRD5A2 SRY STT3A STT3B STXBP1 TBC1D20 TBX3 TCOF1 TRRAP TSPYL1 TUBB WNT7A HP_SMALL_THENAR_EMINENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_THENAR_EMINENCE EIF4A3 EMILIN1 FBXW11 FGD4 FGFR2 HOXA13 RAD51C RPS19 SALL4 TBX5 HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY CASP10 CD247 COL4A5 COL4A6 FAS FASLG ITCH HP_SMOOTH_PHILTRUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_PHILTRUM AASS ABL1 ACER3 ADAMTSL2 ADNP ADSL AFF3 ALG9 ANKRD11 ANKRD17 AP3B1 AP3D1 ASH1L ATG7 ATP6V0A2 ATP6V1A ATP6V1E1 ATP9A BCR CANT1 CASK CCBE1 CD96 CDC42 CDC42BPB CDH2 CDK10 CDK13 CERT1 CLIC2 COG1 COG7 COL3A1 CREBBP CRKL CSNK2B CTNNB1 DDX6 DHPS DHX30 DIS3L2 DPM1 DYRK1A EBF3 EBP EP300 EXOC2 EXOSC1 FAR1 FBN1 FLCN FLI1 FLNA FOXG1 FRA10AC1 GAD1 GJA5 GJA8 GNE GOLGA2 H3-3A H4C5 HNRNPU HOXB1 IFIH1 IFT140 IGF1R IRX5 JARID2 KDM5B KDM5C KIF15 KIF26A KIF7 LEMD2 MAB21L1 MAF MAN1B1 MAPK1 MARS2 MED12 MED13 MEIS2 MID1 MKS1 MMACHC MSL3 MTOR MYOD1 NALCN NOTCH3 NSUN2 NUP107 ORC4 PACS1 PAX3 PGM2L1 PIGB PIGN PIGQ PIGU PIK3CA PKDCC PLAA POLR3A POLR3GL PPP1CB PPP2R3C PRDX1 PRIM1 PTPRF PUF60 PUS7 PYCR2 QRICH1 RAD21 RAI1 RECQL RERE RHOBTB2 RPL10 RTTN SATB1 SATB2 SEC23A SETD5 SIN3A SLC25A24 SLC45A1 SMARCA2 SMC1A SMC3 SMG8 SMPD4 SMS SON SPOP SPTBN1 STAG2 STEEP1 SUMF1 SYT1 TASP1 TBL1XR1 TBX1 TGFB3 THOC6 THSD1 THUMPD1 TMEM147 TMEM94 TPR TRAPPC9 TRIM8 TRIP12 TRPS1 TRRAP TUBGCP2 UBE3B UGDH UNC80 USP9X WDR19 WDR35 WDR37 ZBTB18 ZC4H2 ZMIZ1 ZNF148 ZNF292 ZNF699 ZPR1 HP_SMOOTH_TONGUE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_TONGUE IL6ST KRT14 KRT5 LIFR WNT10A HP_SNORING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SNORING AHDC1 EDN1 GNAI3 GPR101 GUSB HEPHL1 PLCB4 HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION APOL2 APOL4 CHI3L1 COMT CREBBP DAOA DRD3 EP300 GRIN2A HTR2A MAPT MTHFR RTN4R SYN2 HP_SOCIAL_DISINHIBITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOCIAL_DISINHIBITION BAZ1B BCL7B BUD23 CHAMP1 CLIP2 DDX59 DNAJC30 EIF4H ELN FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KANSL1 LIMK1 MED13L METTL27 MLXIPL NCF1 PIGH POGZ RFC2 SMARCA2 STX1A TBL2 TMEM270 VPS37D HP_SOFT_DOUGHY_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_DOUGHY_SKIN ADAMTS2 B3GALT6 COL1A1 COL1A2 COL5A1 COL5A2 IARS1 INPPL1 MGP MICU1 SLC2A10 SON XYLT1 HP_SOFT_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_SKIN ABL1 ADAMTS2 ATP6V1B2 ATP7A B3GALT6 C1R COL12A1 COL1A1 COL1A2 COL5A1 COL5A2 EDA EFEMP2 ELN FKBP14 IARS1 INPPL1 KCNH1 KCNMA1 KCNN3 KIF22 MAN2B1 MAP3K7 MGP MICU1 MLXIPL MTAP PAX2 PIGQ PLOD1 PRDM5 PRMT7 RIN2 SLC2A10 SMAD3 SON SPARC TGFBR1 TGFBR2 TNXB XYLT1 ZNF469 HP_SOFT_TISSUE_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_NEOPLASM APC COL4A5 COL4A6 NAB2 NOTCH3 PDGFRB STAT6 HP_SOFT_TISSUE_SARCOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_SARCOMA ABCA5 AKT1 ANGPT2 ANTXR2 APC ASPSCR1 ATP6V1B2 AURKA AXIN2 BAP1 BAX BMPR1A BRAF BUB1 BUB1B BUB3 CASP10 CCND1 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEP57 CHEK2 COL1A1 COL4A5 COL4A6 CTNNB1 DCC DHCR24 DICER1 DLC1 ELMO2 EP300 EPHB4 FAM20A FAM20C FAS FASLG FGFR3 FH FLCN FLNA FLT4 FOXC2 FOXO1 GJC2 GREM1 HRAS IFNG IL6ST KCNH1 KCNMA1 KCNN3 KEAP1 KIT KLLN KRAS KRT17 LRP1 MAD1L1 MAP2K1 MC1R MCC MDM2 MEN1 MLH1 MLH3 MSH2 MSH6 MTAP MUTYH NBN NF1 NF2 NOTCH3 NRAS PAX3 PAX7 PDE11A PDGFB PDGFRB PDGFRL PIEZO1 PIK3CA PLA2G2A PLCD1 PRKAR1A PRKCD PRLR PTCH1 PTEN PTPN11 PTPN12 PTPRJ RAD54B RASGRP1 REST RSPRY1 SDHB SDHC SDHD SEC23B SLC22A18 SMARCB1 SMARCE1 SMO SOS1 SPRED1 SPTBN1 SRC SSX2 SUFU TERT TLR2 TP53 TRAF7 TRIP13 TSC1 TSC2 USF3 HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR ANKRD11 BCOR CDON CNOT1 DISP1 DLL1 EVC EVC2 FGF8 FGFR1 FOXH1 GAS1 GLI2 MID1 NODAL PLCH1 PTCH1 SHH SIX3 SMAD2 SMC1A STAG2 STIL SUFU TDGF1 TGIF1 ZIC2 HP_SOMATIC_SENSORY_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_SENSORY_DYSFUNCTION AARS1 AASS ABCA1 ABCD1 ABHD12 ADA2 ADCY6 ADSS1 AEBP1 AFG3L2 AIFM1 AIP ALAD ALDH18A1 ALDH4A1 ALMS1 ALS2 AMPD2 APP APTX ARSI ATL1 ATL3 ATN1 ATP13A2 ATP1A1 ATP1A2 ATP2A1 ATP7A ATP7B ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS B4GALNT1 BAG3 BEAN1 BMPR1A BSCL2 C19orf12 C4A CACNA1A CACNA1G CACNA2D1 CADM3 CALR CAMTA1 CAPN1 CASR CAV1 CAV3 CBLIF CCND1 CCR1 CCT5 CDKL5 CHAMP1 CHCHD10 CHP1 CHST14 CLCNKB CLTCL1 COA7 COL1A1 COMP COQ6 COX6A1 CPT1C CSF1R CTDP1 CUBN CYP27A1 CYP7B1 DAB1 DARS2 DCAF8 DDHD1 DEAF1 DEPDC5 DHH DHTKD1 DKK1 DNAJB2 DNAJC3 DNM1L DNM2 DSE DYNC1H1 DYSF EBF3 EEF2 EGR2 ELOVL5 ELP1 EPCAM ERAP1 ERBB3 ERLIN2 EXT1 EXT2 FAN1 FAR1 FAS FBLN5 FBN1 FGD4 FGF14 FIG4 FLI1 FLII FLNC FLRT1 FLVCR1 FMR1 FXN GABBR2 GABRG2 GALC GAN GARS1 GATA1 GBA2 GBE1 GBF1 GCH1 GDAP1 GJB1 GJC2 GLA GMPPA GNA11 GNA14 GNAS GNB4 GPI GPR101 GRIA3 GRIN2A H19 HARS1 HAX1 HDAC4 HERC2 HEXB HINT1 HK1 HLA-B HLA-DQB1 HLA-DRB1 HMBS HNRNPK HPDL HPGD HRAS HSPB1 HSPB8 HSPD1 HTRA1 IARS2 IBA57 IFNGR1 IFRD1 IGF2 IGHMBP2 IL10 IL12A IL12A-AS1 IL23R IL6ST IMPDH2 INF2 IQSEC2 IRF2BPL ITPR3 JAG1 JAK2 JPH1 KARS1 KCNC3 KCND3 KCNJ1 KCNQ1OT1 KDM5C KIF1A KIF1B KIF5A KLC2 KLHL9 KLRC4 KNSTRN KPNA3 KRAS KRT1 KRT14 KRT16 KRT5 KRT9 LIFR LIG3 LITAF LMNA LMNB1 LMX1B LRSAM1 LYST LZTR1 MADD MAG MAGEL2 MAPT MARS1 MATR3 MCM3AP MECP2 MED25 MEFV MEN1 MFN2 MKRN3 MLH1 MLH3 MME MORC2 MPL MPV17 MPZ MSH2 MSH6 MSTO1 MT-ATP6 MT-TE MTHFR MTMR2 MTRFR MTTP MYH14 MYORG NAGA NAGLU NALCN NARS1 NDN NDRG1 NEFH NEFL NF2 NGF NGLY1 NIPA1 NKX6-2 NLRP3 NOP56 NOTCH2NLC NPAP1 NPRL2 NPRL3 NR4A2 NTNG1 NTRK1 OCA2 OPA3 P4HA2 PDCD1 PDK3 PDXK PDYN PEX10 PEX16 PEX6 PEX7 PGM3 PHYH PI4KA PIEZO2 PIK3CA PIK3CD PIK3R5 PLD3 PLEKHG4 PLEKHG5 PLOD1 PMP2 PMP22 PMS1 PMS2 PNKP PNPT1 POLG POLR3A POLR3B POU4F1 PPOX PRDM12 PRDX3 PRKCG PRNP PRORP PRPS1 PRRT2 PRX PSAP PTPN22 PWAR1 PWRN1 RAB7A RAI1 RASA1 REEP1 REEP2 RELA RETREG1 RFC1 RFX7 RIPOR2 RNASEH1 RNF170 RPS20 RRM2B RTN2 SACS SAMD9L SAR1B SBF1 SBF2 SCN10A SCN11A SCN1A SCN4A SCN9A SCO2 SCP2 SCYL1 SDHA SEMA4A SEPTIN9 SERPING1 SERPINI1 SETX SH2B3 SH3TC2 SHANK3 SIM1 SLC12A1 SLC12A3 SLC12A6 SLC19A2 SLC25A15 SLC25A19 SLC25A46 SLC26A2 SLC2A1 SLC33A1 SLCO2A1 SMARCB1 SMC1A SNORD115-1 SNORD116-1 SNRPN SORD SOX10 SPART SPAST SPG11 SPG7 SPTBN2 SPTLC1 SPTLC2 SRPX2 STAT4 STUB1 STX16 SYNE1 SYNGAP1 SYT2 TBP TDP1 TET2 TFG TGFBR2 TGM1 TGM6 THPO TK2 TLR4 TMEM218 TNFRSF1A TP53 TPP1 TRAPPC2 TRIM32 TRIO TRPM3 TRPV4 TTPA TTR TWNK TYMP UBAC2 UBAP1 UBTF UCHL1 UNC80 UROD UROS VAMP1 VCP VPS13A VPS13D VPS37A VPS41 VWA1 WASHC5 WDR48 WNK1 XK XPA XRCC1 YARS1 YY1 ZEB2 ZFHX2 ZFTA ZFYVE26 HP_SPARSE_AXILLARY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_AXILLARY_HAIR ADAMTS3 APCDD1 AR AXIN2 AXL CCBE1 CCDC141 COL17A1 CYB5A CYP17A1 DHX37 DMRT3 DSC3 DUSP6 FAT4 FEZF1 FGF17 FSHB GATA4 GJB6 GNRH1 GNRHR HLA-DRA ITGB4 KCTD1 LHB LIPH LPAR6 MAP3K1 NR0B1 NR5A1 ORC6 PSMB8 RPL21 SEMA3E SOX9 SPRY4 SRA1 SRY TBX3 TP63 VAMP7 WDR11 WT1 WWOX ZFPM2 HP_SPARSE_BODY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BODY_HAIR AHSG APCDD1 AXIN2 CDH3 CHD7 CLDN1 COL17A1 CST6 CTSC CYB5A CYP17A1 DSC3 DSG4 DUSP6 EDA EDA2R EDAR EDARADD FGF17 FGF8 FGFR1 FMR1 GNRH1 GNRHR HRURF HS6ST1 ITGB4 ITGB6 JUP KANK2 KDF1 KISS1 KISS1R KLHL24 KRT25 KRT71 KRT74 KRT85 LAMA3 LAMB3 LAMC2 LIPH LMNA LPAR6 LSS NHLH2 NSMF PROK2 PROKR2 RPL21 SNRPE SOX18 SPRY4 ST14 TAC3 TACR3 TP63 TRAF6 WDR11 WNT10A ZBTB20 HP_SPARSE_BONE_TRABECULAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BONE_TRABECULAE CLCN5 CYP27B1 CYP2R1 SLC34A3 VDR HP_SPARSE_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYEBROW AARS1 ALX1 ALX4 ANTXR1 APCDD1 ATAD3A ATR B4GALT7 BANF1 BRF1 CDC42 CDC42BPB CDH3 CEP120 CHST3 CLDN1 COG6 COL11A1 CRIPT CWC27 DDX3X DLX4 DOLK DPH1 DPH2 DPH5 DSC3 DSG4 DSP EBP EDA EDAR EDARADD FAM111B FIG4 GAD1 GJA1 GJB2 GJB6 GNPTAB GTPBP2 H3-3A H4C5 HDAC4 HECW2 HEPHL1 HERC1 HNRNPK HRURF IRX5 ITGA3 JARID2 JUP KANK2 KAT5 KAT6A KDF1 KDM1A KDM6A KIFBP KMT2D KMT5B KRT17 KRT25 KRT71 KRT74 LARP7 LIG4 LIPH LMBRD2 LMNA LPAR6 LRP1 LSS LTV1 LZTR1 MAN1B1 MAPKAPK5 MARS1 MBTPS2 MED12 MED12L MED25 MEGF8 MEIS2 MESD MTX2 NAA10 NECTIN1 NF1 NFIB NSD1 NSUN2 NUP188 ODC1 PIGK PIGL PLXNA1 POLR3A PPP1CB PPP2R3C PQBP1 PURA RAF1 RECQL4 RHOBTB2 RIN2 RMRP RNF113A RNU12 RNU4ATAC RPL21 RPS28 SIAH1 SMARCA2 SMS SNRPE SON SOS1 SOS2 SPINK5 SPOP SPRED2 ST14 STAG2 TBCD TBX3 TCF4 THUMPD1 TMEM147 TP63 TRPS1 TWIST2 UBE3B USB1 VAC14 WDR26 WDR35 WLS WNT10A WNT10B YY1 ZMPSTE24 HP_SPARSE_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYELASHES ALX1 ALX4 ANTXR1 APCDD1 B4GALT7 BANF1 BLM CDH3 CLDN1 COL11A1 CST6 CWC27 DKC1 DLX4 DOLK DPH1 DPH5 DSC3 DSG4 DSP EBP EDA EDAR EDARADD EDNRA EPS8L3 FAM111B FIG4 GJA1 GJB2 GJB6 GTPBP2 HRURF IRX5 ITGA3 KANK2 KREMEN1 KRT25 KRT71 KRT74 LIPH LPAR6 LSS LTV1 MAP2K2 MBTPS2 MPLKIP NECTIN1 NECTIN4 NF1 NHP2 NOP10 ODC1 POLR3A RECQL4 RMRP RNU12 RNU4ATAC RPL21 SF3B4 SMARCA2 SNRPE SOX18 SPINK5 ST14 TCOF1 TP63 TRPS1 TSR2 TWIST2 TYMS VAC14 WDR35 ZMPSTE24 HP_SPARSE_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_HAIR AARS1 ABCA12 ACD ADAMTS3 ADNP AHSG ALDH18A1 ALDH6A1 ALOX12B ALOXE3 ALX1 ALX4 ANAPC1 ANOS1 ANTXR1 AP1B1 APC2 APCDD1 AR ARHGAP31 ARID1A ARID1B ARID2 ASPRV1 ASXL3 ATP2B1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP ATRX AXIN2 AXL B3GALT6 B4GALT7 BANF1 BCORL1 BICRA BLM BMP15 BNC1 BRAF BRCA1 BRF1 C18orf32 C3orf52 CACNA1C CACNA1G CAMK2B CANT1 CARS1 CAV1 CBL CBS CCBE1 CCDC141 CDC42BPB CDH1 CDH23 CDH3 CDSN CENPE CENPJ CEP152 CEP57 CHD7 CKAP2L CLDN1 CLMP COL11A1 COL17A1 CREBBP CRIPT CSGALNACT1 CST6 CTC1 CTSC CWC27 CYB5A CYP17A1 CYP4F22 DCAF17 DCLRE1B DHX37 DKC1 DLL4 DLX4 DMRT3 DNA2 DNAJC21 DNMT3A DOCK6 DOLK DPF2 DPH1 DPH2 DPH5 DSC3 DSG1 DSG4 DSP DUSP6 EBP EDA EDA2R EDAR EDARADD EDNRA EIF5A EOGT EPS8L3 ERCC2 ERCC3 ERCC6 ERCC8 ESCO2 EXOSC2 EXT1 EXT2 EZH2 FAM111B FAS FAT4 FEZF1 FGF17 FGF8 FGFR1 FIG4 FLNA FMR1 FOXL2 FRMD4A FSHB FSHR GATA4 GATAD2B GJA1 GJB2 GJB6 GNB2 GNPTAB GNRH1 GNRHR GSN GTF2E2 GTF2H5 GTPBP2 H3-3B HDAC4 HLA-DRA HOXC13 HPD HR HRAS HRURF HS6ST1 HSPA9 IFT122 IFT140 IFT43 IFT52 IGF1R IKBKG IPO8 IRX5 ITGA3 ITGB4 ITGB6 JUP KANK2 KAT6B KCTD1 KDF1 KDM1A KDM4B KIFBP KISS1 KISS1R KLHL24 KMT2B KMT2D KRAS KREMEN1 KRT17 KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LAMA3 LAMB3 LAMC2 LHB LIFR LIG4 LIPH LIPN LMNA LPAR6 LSS LTV1 MAF MAP2K1 MAP2K2 MAP3K1 MAPKAPK5 MARS1 MBTPS2 MDM2 MED12 MED25 MESD MGAT2 MPLKIP MRPS22 MSH4 MSX1 MTX2 NDUFA6 NECTIN1 NECTIN4 NEPRO NF1 NFIX NFKBIA NHLH2 NHP2 NIPAL4 NOP10 NOTCH1 NPM1 NR0B1 NR3C1 NR5A1 NRAS NSD1 NSMF NSRP1 NSUN2 NTRK1 NUP107 NUP85 OCRL ODC1 OFD1 ORC6 PARN PCGF2 PCNT PDGFRB PERP PHF6 PI4KA PIGL PIK3R1 PKP1 PLK4 PNPLA6 POC1A POGZ POLR3A POLR3H POP1 PORCN PPP1CB PPP1R15B PPP2R3C PQBP1 PRIM1 PRKD1 PRMT7 PROK2 PROKR2 PRPS1 PSMB8 PSMC3IP PTDSS1 PTPN22 PYCR1 RAD21 RBBP8 RBPJ RECQL4 RIN2 RIPK4 RMRP RNF113A RNU12 RNU4ATAC RPL21 RTEL1 SATB2 SDR9C7 SEC23A SEMA3E SETD2 SF3B4 SHOC2 SKIC2 SKIC3 SLC25A24 SLC7A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNRPE SOX11 SOX18 SOX4 SOX9 SPIDR SPINK5 SPRED2 SPRTN SPRY4 SRA1 SREBF1 SRY ST14 STING1 SULT2B1 TAC3 TACR3 TAF1 TARS1 TBX3 TCOF1 TERC TERT TFAP2A TGM1 THUMPD1 TINF2 TMEM147 TOGARAM1 TP53 TP63 TRAF6 TRAIP TRMT10A TRPS1 TRPV3 TSPEAR TSR2 TTC7A TWIST2 TYMS UBA2 UBE3B UBR1 USB1 USP48 USP8 VAC14 VAMP7 WDR11 WDR19 WDR35 WLS WNT10A WNT10B WRAP53 WRN WT1 WWOX XRCC4 XYLT1 ZBTB20 ZFPM2 ZMPSTE24 ZSWIM7 HP_SPARSE_LATERAL_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_LATERAL_EYEBROW ATR CDC42BPB COG6 EDARADD H4C5 HEPHL1 HNRNPK IRX5 KAT5 KDF1 KDM6A KMT2D KMT5B KRT25 KRT71 KRT74 LIG4 LIPH LMBRD2 LPAR6 MAN1B1 MESD NECTIN1 NSUN2 PIGK PIGL PLXNA1 PPP1CB PQBP1 PURA TBX3 TRPS1 TWIST2 USB1 WDR26 WLS HP_SPARSE_MEDIAL_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_MEDIAL_EYEBROW KAT6A NUP188 SIAH1 SMARCA2 TCF4 HP_SPARSE_OR_ABSENT_EYELASHES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_OR_ABSENT_EYELASHES ALX1 ALX4 ANAPC1 ANTXR1 APCDD1 B4GALT7 BANF1 BLM BRAF CDH3 CLDN1 COL11A1 CST6 CWC27 DKC1 DLX4 DOLK DPH1 DPH5 DSC3 DSG4 DSP EBP EDA EDAR EDARADD EDNRA EPS8L3 FAM111B FGF10 FIG4 FRAS1 GJA1 GJB2 GJB6 GTPBP2 HOXC13 HR HRURF IRX5 ITGA3 JUP KANK2 KRAS KREMEN1 KRT25 KRT71 KRT74 KRT85 LIPH LMNA LPAR6 LRP1 LSS LTV1 MAP2K1 MAP2K2 MBTPS2 MPLKIP NECTIN1 NECTIN4 NF1 NHP2 NOP10 ODC1 PHGDH PKP1 POLR1B POLR1C POLR1D POLR3A RECQL RECQL4 RIPK4 RMRP RNU12 RNU4ATAC RPL21 SF3B4 SMARCA2 SNRPE SOX18 SPINK5 ST14 TCOF1 TP63 TRPS1 TSR2 TWIST2 TYMS VAC14 WDR35 ZMPSTE24 HP_SPARSE_SCALP_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_SCALP_HAIR AARS1 ACD ADNP AHSG APC2 APCDD1 ARID1A ARID1B ARID2 ATR ATRIP ATRX AXIN2 B3GALT6 B4GALT7 BANF1 BICRA BRAF C3orf52 CACNA1C CARS1 CAV1 CBS CDC42BPB CDH23 CDH3 CDSN CENPE CENPJ CEP152 CLDN1 CRIPT CST6 DCLRE1B DKC1 DNA2 DPF2 DPH1 DPH2 DSC3 DSG4 EDARADD EIF5A EPS8L3 ERCC2 ERCC3 EXT1 FAS FIG4 GJA1 GJB2 GJB6 GNB2 GTF2E2 GTF2H5 HDAC4 HLA-DRA HR HRURF IFT140 IGF1R IPO8 ITGA3 ITGB6 JUP KANK2 KAT6B KDM1A KIFBP KRT17 KRT25 KRT74 LIG4 LIPH LMNA LPAR6 LSS LTV1 MAF MBTPS2 MED25 MPLKIP NECTIN4 NEPRO NFKBIA NHP2 NOP10 NR3C1 NSD1 NSUN2 NTRK1 NUP85 OCRL ODC1 PARN PCGF2 PCNT PLK4 POLR3A PPP1CB PRKD1 PTPN22 RAD21 RBBP8 RECQL4 RIN2 RIPK4 RNF113A RNU12 RNU4ATAC RPL21 RTEL1 SETD2 SHOC2 SLC25A24 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNRPE SOX11 SOX18 SOX4 SPINK5 TARS1 TERT TINF2 TP53 TP63 TRAIP TRPS1 TSPEAR UBA2 UBR1 USP48 USP8 VAC14 WLS WNT10A WRN ZBTB20 HP_SPASTICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTICITY AARS1 AARS2 AASS ABCA12 ABCC8 ABCD1 ABHD12 ABHD16A ACAT1 ACER3 ACP5 ACTL6B ADAM22 ADAR ADARB1 ADAT3 ADD3 ADGRG1 ADSL AFF3 AFG3L2 AGA AGTPBP1 AIFM1 AIMP1 ALDH18A1 ALDH3A2 ALG11 ALG3 ALG9 ALS2 AMACR AMFR AMPD2 ANG ANK3 ANKLE2 ANXA11 AP1G1 AP1S2 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APOE ARF1 ARG1 ARL6IP1 ARNT2 ARSA ARSI ARV1 ARX ASAH1 ASNS ASPA ATAD1 ATAD3A ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATPAF1 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AUTS2 B4GALNT1 B4GAT1 BAZ1B BCAS3 BCL11B BCL7B BCOR BCS1L BEAN1 BICD2 BOLA3 BSCL2 BTD BUD23 C19orf12 C2orf69 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA2D1 CAMK2A CAMK2B CAMLG CAPN1 CARS1 CARS2 CASK CCDC88C CCNF CCT5 CDC40 CDK19 CDKL5 CDON CELF2 CEP85L CFAP410 CHCHD10 CHMP1A CHMP2B CHP1 CIT CKAP2L CLCN3 CLCN4 CLIC2 CLIP2 CLN5 CLN8 CLP1 CLPB CLTC CNKSR2 CNOT1 CNP CNPY3 CNTNAP1 CNTNAP2 COA8 COASY COG2 COL4A1 COL4A2 COLGALT1 COPB1 COPB2 COQ5 COX15 COX8A CPSF3 CPT1C CRLF1 CSF1R CTC1 CTNNA2 CTNNB1 CTSD CYB5A CYB5R3 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DALRD3 DAO DARS1 DARS2 DCTN1 DCX DDB2 DDHD1 DDHD2 DDX3X DEGS1 DENND5A DHCR24 DHDDS DHPS DISP1 DLD DLL1 DMXL2 DNAJC19 DNAJC30 DNAJC6 DNM1 DNM1L DNMT1 DPH5 DPM1 DSTYK DTYMK DYM DYNC1H1 DYNC1I2 EARS2 ECHS1 EDNRB EED EEF1A2 EIF2AK1 EIF2AK2 EIF2B1 EIF2B2 EIF2B4 EIF2S3 EIF4H ELN ELOVL1 ELOVL4 ELP2 EML1 ENTPD1 EPHA4 EPM2A EPRS1 ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN1 ERLIN2 EXOC2 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EZH2 FA2H FAR1 FARS2 FBLN1 FBXO28 FBXO7 FCSK FDX2 FDXR FGF12 FGF13 FGF8 FGFR1 FIG4 FKBP6 FLNA FLRT1 FOXG1 FOXH1 FOXP1 FRMD5 FRMPD4 FRRS1L FTL FUCA1 FUS FXN FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAD1 GALC GAMT GAN GAS1 GATAD2B GBA1 GBA2 GBE1 GCDH GCH1 GDAP2 GEMIN4 GFAP GFM1 GFM2 GJA1 GJB1 GJC2 GLB1 GLE1 GLI2 GLRA1 GLRB GLRX5 GLT8D1 GLYCTK GM2A GMPPA GNAO1 GOT2 GPAA1 GPHN GPT2 GRIA2 GRIA3 GRIA4 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GRM7 GSS GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUF1 H3-3A H4C5 HACE1 HCN1 HECTD4 HEPACAM HEXB HID1 HIKESHI HLA-DQB1 HLA-DRB1 HMGCL HNRNPA1 HPDL HPRT1 HSD17B10 HSD17B4 HSPD1 HTRA1 HTRA2 HTT HUWE1 IARS1 IBA57 IDUA IFIH1 IKBKG INPP5E INPP5K INTS8 IREB2 IRF2BPL ISCA1 ISCA2 ITM2B JAM3 KANK1 KARS1 KATNB1 KCNA1 KCNA2 KCNA4 KCNB1 KCNC2 KCNC3 KCNJ6 KCNQ2 KCNT1 KDM5C KIDINS220 KIF11 KIF1A KIF1C KIF2A KIF5A KIF5C KLC2 KMT2B KPNA3 KRAS KY L1CAM L2HGDH LAGE3 LAMB1 LETM1 LIAS LIMK1 LINGO1 LIPT1 LIPT2 LMBRD2 LMNB1 LMX1B LRPPRC LRRK2 LSM11 LYRM7 LYST MACF1 MAG MAN2B1 MAPK8IP3 MAPT MARS1 MARS2 MATR3 MCCC1 MCCC2 MCEE MCOLN1 MECP2 MECR MED12 MED13L MED17 MED23 MED25 MED27 METTL27 METTL5 MFF MFN2 MFSD2A MICOS13 MINPP1 MLC1 MLXIPL MOCS1 MOCS2 MORC2 MPLKIP MRE11 MRM2 MRPS22 MRPS34 MSL3 MT-ATP6 MT-ATP8 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TI MT-TK MT-TL1 MT-TP MT-TV MT-TW MTFMT MTHFR MTHFS MTO1 MTPAP MTRFR MYO5A NAA10 NACC1 NADK2 NAGA NALCN NARS2 NAXD NCF1 NDE1 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFAF4 NDUFAF5 NDUFC2 NDUFS4 NDUFV1 NDUFV2 NECAP1 NEFH NEFL NEK1 NEU1 NEUROD2 NEXMIF NFU1 NHLRC1 NIPA1 NKX6-2 NODAL NOTCH3 NOVA2 NPC1 NPC2 NR2F1 NSD1 NSRP1 NSUN2 NT5C2 NTNG1 NTNG2 NTRK2 NUBPL NUP214 NUP54 NUP62 NUS1 OCLN ODC1 OGDHL OPA1 OPA3 OPHN1 OPTN OSGEP OSTM1 OTUD6B PACS2 PAFAH1B1 PANK2 PARK7 PARS2 PAX3 PCDH12 PCLO PCYT2 PDCD1 PDHX PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PHACTR1 PHGDH PI4KA PIGA PIGN PIGP PIGQ PIGU PINK1 PLA2G6 PLAA PLCB1 PLCH1 PLP1 PMPCA PMPCB PNKP PNP PNPLA6 PNPLA8 PNPT1 PODXL POLA1 POLG POLR1C POLR3A POLR3B POLR3GL POMGNT1 PON1 PON2 PON3 POU3F3 PPARGC1A PPFIBP1 PPIL1 PPP1R15B PPP3CA PPT1 PQBP1 PRDM13 PRDM8 PRKN PRNP PRPH PRPS1 PRRT2 PRUNE1 PSAP PSAT1 PSEN1 PSMC1 PTCH1 PTPN23 PTS PUM1 PYCR2 RAB11B RAB18 RAB27A RAB3GAP1 RAB3GAP2 RAD50 RALGAPA1 RANBP2 RARS1 RARS2 REEP1 REEP2 REPS1 RERE RETREG1 RFC2 RFT1 RLIM RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF170 RNF220 RNU4ATAC RNU7-1 ROGDI RPIA RPS6KA3 RTN2 RTTN RUSC2 SACS SAMHD1 SATB1 SATB2 SCN1B SCN2A SCN3A SCN4A SCN8A SCYL1 SCYL2 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEPSECS SERAC1 SETBP1 SETX SHH SHMT2 SHQ1 SIGMAR1 SIK1 SIL1 SIX3 SIX6 SLC12A2 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A4 SLC25A10 SLC25A12 SLC25A15 SLC25A22 SLC25A46 SLC2A1 SLC30A10 SLC32A1 SLC33A1 SLC35A2 SLC38A3 SLC39A14 SLC5A6 SLC6A5 SLC6A8 SLITRK2 SMC1A SMPD1 SNCA SNORD118 SNX14 SOD1 SON SOX10 SOX2 SOX4 SPART SPAST SPATA5 SPATA5L1 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN1 SPTBN2 SPTLC1 SQSTM1 SRD5A3 SRPX2 STAG2 STAMBP STIL STN1 STUB1 STX1A STXBP1 SUCLA2 SUMF1 SUZ12 SVBP SYNE1 SYNGAP1 SYNJ1 SZT2 TACO1 TAF1 TAF15 TAF2 TAF8 TANGO2 TARDBP TARS1 TBC1D20 TBC1D23 TBCD TBCE TBK1 TBL2 TBP TCEAL1 TCF20 TCTN2 TDGF1 TDP1 TECPR2 TELO2 TFG TGFB1 TGIF1 THOC2 TIMM50 TIMM8A TMEM222 TMEM231 TMEM270 TMEM63C TMEM67 TMTC3 TMX2 TNR TOE1 TP53RK TPI1 TPK1 TPRKB TRAK1 TRAPPC12 TRAPPC4 TREM2 TREX1 TRIM8 TRIT1 TRMT10A TRMT5 TSEN15 TSEN2 TSEN34 TSEN54 TTC19 TTC26 TTR TUBA1A TUBB3 TUBB4A TUBG1 TUBGCP2 TUFM TXN2 TYROBP UBA5 UBAP1 UBE4A UBQLN2 UBTF UCHL1 UFC1 UFM1 UGDH UGP2 UNC13A UNC80 USP8 VAMP1 VAPB VCP VPS11 VPS13C VPS13D VPS37A VPS37D VPS41 VPS4A VPS50 VPS53 VRK1 VWA3B WARS1 WARS2 WASHC4 WASHC5 WDR26 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WLS WWOX XPA XPC YIF1B YWHAG ZBTB11 ZC4H2 ZEB2 ZFR ZFYVE26 ZFYVE27 ZIC2 ZNF335 ZNF592 ZNF668 ZSWIM6 HP_SPASTIC_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_ATAXIA AFG3L2 ATP5F1A CACNA1G DARS2 GDAP2 GLRX5 HTRA1 KIF1C LRP4 MARS2 MMADHC MTPAP PRDM8 SACS SPG7 TANC2 TBCE TUBB3 VAMP1 HP_SPASTIC_DIPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DIPLEGIA AARS1 AASS ACP5 ADD3 ALDH3A2 ALS2 AP1S2 BCOR CTNNB1 DARS1 ELP2 FLNA FUS GALC GCDH GLRX5 H4C5 HSD17B10 HSD17B4 HUWE1 NAA10 NDE1 NDUFA4 NTRK2 PDHX PNP PQBP1 PSAP RAB3GAP1 RAB3GAP2 RNU7-1 SIGMAR1 SIX6 SLC25A15 SOX2 SPG11 SPTBN1 SPTLC1 TAF1 TANGO2 TUBB3 HP_SPASTIC_DYSARTHRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DYSARTHRIA AFG3L2 ALDH18A1 ALS2 AP4B1 AP4E1 AP4M1 AP4S1 ATP2B3 ATXN8OS ERLIN2 FAR1 GBA2 GJB1 GLRX5 MAG MAPT MARS2 PEX6 PNPT1 POLR3A PRNP RAB3GAP2 SPART SPG7 TDP1 VAMP1 HP_SPASTIC_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_GAIT ABCD1 ALDH18A1 ALS2 AMPD2 AP5Z1 APC ARG1 ARL6IP1 ARSI ATAD3A ATL1 ATP6AP2 B4GALNT1 BSCL2 CACNA1G CCT5 CPT1C CYP2U1 CYP7B1 DDHD1 DDHD2 DSTYK ERCC6 ERLIN1 ERLIN2 FAR1 FARS2 FBXO7 FUCA1 GBA2 GJC2 HSPD1 KCNA1 KCNA4 KIDINS220 KIF1A KIF5A KPNA3 LMNB1 MAG MECP2 MFSD2A NIPA1 NT5C2 PGAP1 PLP1 POLR3B REEP1 REEP2 RTN2 SACS SHMT2 SLC25A15 SLC33A1 SLC39A14 SPART SPAST SPG11 SPG7 TACO1 TECPR2 TMEM63C UBA5 UBAP1 USP8 VAMP1 VCP WASHC5 WDR26 WDR48 WLS ZFR ZFYVE26 ZFYVE27 HP_SPASTIC_HYPERACTIVE_BLADDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_HYPERACTIVE_BLADDER DARS2 DNAJC13 EIF4G1 GBA1 GIGYF2 KIF5A LRIG2 LRRK2 PLP1 SNCA VPS35 HP_SPASTIC_PARAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARESIS ABCD1 ADAR AFG3L2 AIMP1 ALDH3A2 AP5Z1 ARG1 ATP6AP2 BCOR BTD CCDC88C COASY CPT1C CYP27A1 EDNRB FA2H FAR1 GALC GBA1 GFAP GJA1 GJC2 GOT2 IDUA IFIH1 LSM11 MAG MED13L MICOS13 MTHFR MTPAP MTRFR OPA3 PEX16 PLP1 PNP POLG POLR3GL PPP1R15B PRUNE1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHA SDHAF1 SDHB SDHD SELENOI SLC25A15 SLC30A10 SOX10 SPART SPG21 SPG7 TBCE TREX1 TRMT10A TTC19 TTR WDR45 HP_SPASTIC_PARAPARETIC_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARETIC_GAIT AMPD2 ARL6IP1 ATP6AP2 ERCC6 FARS2 FBXO7 KIF1A KIF5A SHMT2 SLC39A14 HP_SPASTIC_PARAPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPLEGIA ABCA12 ABCD1 ABHD16A AIFM1 ALDH18A1 ALS2 AMFR AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARL6IP1 ARSI ATL1 ATP13A2 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATPAF1 ATPAF2 ATRX B4GALNT1 BSCL2 C19orf12 CACNA1D CAPN1 CCT5 CPT1C CYP2U1 CYP7B1 DDHD1 DDHD2 DNM1L DSTYK ELOVL1 ENTPD1 ERLIN2 FA2H FARS2 FLRT1 GAN GBA1 GBA2 GBE1 GJC2 GPT2 HACE1 HPDL HSPD1 IBA57 INTS8 KDM5C KIDINS220 KIF1A KIF5A KLC2 KPNA3 KY L1CAM LAMB1 LYST MAG MAN2B1 MARS1 MECP2 MT-ATP6 MT-ATP8 MTRFR NIPA1 NT5C2 OPA1 PAX3 PDHX PEX3 PGAP1 PI4KA PLP1 PNPLA6 RAB3GAP2 REEP1 REEP2 RNASEH2B RNF170 RNF220 RTN2 SELENOI SETX SLC16A2 SLC25A15 SLC2A1 SLC33A1 SPART SPAST SPG11 SPG21 SPG7 STXBP1 TECPR2 TFG TOE1 UBAP1 UCHL1 USP8 VAMP1 VCP VPS37A WASHC5 WDR45B WDR48 ZFR ZFYVE26 ZFYVE27 HP_SPASTIC_TETRAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPARESIS AASS ABCD1 ADAR AFF3 ALG3 ALS2 APOE ARX ATP5F1A ATP6V1A AUH COA8 DYM EARS2 EIF2S3 ERLIN2 EXOSC8 FA2H FAR1 FBLN1 GM2A GSS GUF1 HSD17B10 IFIH1 KCNJ6 KCNQ2 L2HGDH LIPT1 LIPT2 LMNB1 LMX1B LYRM7 MFSD2A MOCS1 MRM2 MT-ATP6 NFU1 NUP54 NUP62 PAFAH1B1 PHACTR1 PLA2G6 PLP1 PRDM8 PRPS1 PRUNE1 PSAP PSAT1 PSEN1 REEP1 RERE RNU7-1 SDHA SDHAF1 SDHB SDHD SLC18A2 SLC35A2 SMC1A SOD1 SOX4 STAMBP STXBP1 TACO1 TBCE TMEM222 TNR TRAPPC4 WDR62 HP_SPASTIC_TETRAPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPLEGIA ADAR ADD3 ADGRG1 ALS2 ANKLE2 AP4E1 AP4M1 APC2 ARSA ARX ASNS ATP13A2 ATP6V0A1 AUH BCL11B CACNA1D CACNA1E CDC40 CLIC2 CLN8 CNP CNPY3 COASY COG2 COL4A2 COLGALT1 CSF1R CTNNA2 CYB5A CYB5R3 DEGS1 DENND5A DPH5 DTYMK DYNC1H1 ELOVL4 EXOC2 FUCA1 GLB1 GLYCTK GOT2 GRIA4 GRIN1 GSX2 H4C5 HSD17B10 IBA57 IFIH1 KANK1 KARS1 KCNC2 KIF2A KIF5C LIAS LSM11 MCOLN1 MECP2 MINPP1 MOCS1 MOCS2 MRPS22 MTFMT NALCN NAXD NDE1 NDUFAF4 NDUFAF5 OSTM1 OTUD6B PCDH12 PDHX PET100 PHGDH PI4KA PLA2G6 PPFIBP1 PPIL1 PRDM13 PRDM8 PSMC1 RAB18 RANBP2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SCN2A SCN3A SDHAF1 SEC31A SEPSECS SHMT2 SHQ1 SIX6 SLC16A2 SLC19A3 SLC1A4 SOX10 SOX2 SPATA5L1 SPTAN1 SPTBN1 SRPX2 STXBP1 SYNJ1 TANGO2 TBC1D20 TBCE TMX2 TREX1 TUBA1A TUBB3 TUBG1 UNC80 VPS53 WARS2 WDR45B WDR73 YIF1B HP_SPECIFIC_LEARNING_DISABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPECIFIC_LEARNING_DISABILITY ABCD1 ACTB ACTG1 ADGRG1 AFF2 ALDH18A1 ALDOA ALMS1 AMACR AMER1 ANGPT2 APC APC2 ARL6 ARVCF ARX ASPA ATP7A AUTS2 B3GALNT2 B4GAT1 BBS1 BLM BPTF C9orf72 CA2 CACNA1A CACNA1H CCDC28B CDC45 CDC6 CDON CDT1 CHCHD10 CHMP2B CHRNA7 CHSY1 CKAP2L CLTCL1 CNKSR2 COL4A1 COMT COQ2 COX7B CRPPA CYLD CYP27A1 DAG1 DARS2 DCC DGCR2 DGCR6 DGCR8 DIS3L2 DISP1 DLL1 DMD DNAAF4 DNAJC21 DNAL4 DPP9 DPYD DVL1 DVL3 EHMT1 ELN ESS2 EXTL3 FANCF FARSB FBXW7 FGF8 FGFR1 FIBP FKRP FKTN FLT4 FMR1 FOXH1 FOXP2 FRMD5 FUS FZD2 GABRA1 GABRB3 GABRG2 GALT GAS1 GCLC GDI1 GJC2 GLI2 GLUD1 GMNN GNPTAB GP1BB GRB10 GRIA3 GRIN2A GRN H19 HAL HCCS HDAC8 HERC2 HINT1 HIRA HMGA2 HNRNPA1 HNRNPA2B1 HTT IFNG IGF2 INPP5K IRF6 JAG1 JMJD1C JRK KAT6B KCNA1 KCNC3 KCNJ2 KCNJ5 KIF11 KIFBP KLF13 LARGE1 LAS1L LEMD3 LTBP1 LTBP4 LYST MAGEL2 MAN2B1 MAP1B MAP2K2 MAPT MBTPS2 MED13L MICU1 MID1 MKRN3 MLXIPL MORC2 MSX1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTHFR MTOR MYCN MYO5A NDN NDUFB11 NECTIN1 NF1 NIPA1 NIPA2 NODAL NOTCH3 NPAP1 NSD1 NTN1 NTRK1 OCA2 OPA3 ORC1 ORC4 ORC6 PAPPA2 PCGF2 PI4KA PIEZO1 PIEZO2 PIGH PIK3C2A PLA2G6 PLCH1 PMPCA PNKP POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAR1B PRKD1 PRMT7 PRNP PRRT2 PSEN1 PSMD12 PTCH1 PTDSS1 PWAR1 PWRN1 RAD51 RDH11 RNF168 RNU4ATAC RPS23 RREB1 RXYLT1 SARDH SBDS SBF2 SC5D SEC24C SETD2 SH2B1 SHH SIL1 SIM1 SIX3 SIX6 SLC25A15 SLC2A1 SLC2A10 SLC2A3 SMAD4 SMARCA2 SMC1A SMPD1 SNORD115-1 SNORD116-1 SNRPN SOX2 SPART SPG11 SPG7 SPRED1 SPTBN1 SQSTM1 SRP54 SRPX2 SRY STAG2 STIL STIM1 SUGCT SYN1 TARDBP TBK1 TBX1 TCF12 TCF4 TCTN3 TDGF1 TERC TERT TGIF1 THOC6 TINF2 TMEM106B TMEM63A TMEM94 TP63 TREM2 TRIO TSC1 TSC2 TUBB2B TUBB3 TUBB4A TUBG1 TWNK UBE3B UFD1 VCP VPS13D VPS41 WAS WDR1 WIPF1 WNT5A YY1AP1 ZFYVE26 ZIC2 HP_SPEECH_APRAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_APRAXIA CHD1 CHD3 DLAT DMPK EBF3 FOXP1 FOXP2 FRRS1L GALK1 GALT GRIN2A KANSL1 KDM6B MAPT MED13 NONO PACS1 POU4F1 PRKAR1B PTEN PURA RAI1 RNF135 SH2B1 SLC25A15 SLC6A8 SPART SRCAP SRPX2 STUB1 TRAPPC11 USP7 HP_SPEECH_ARTICULATION_DIFFICULTIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_ARTICULATION_DIFFICULTIES ALDH4A1 ARHGAP29 ARHGEF38 BMP4 CDH1 COBLL1 DLG1 DLX4 FOXP1 FRRS1L GABRG2 GALT GNAI3 GRHL3 GRIN2A HTT IRF6 MAGEL2 MAPT MSX1 NDN NECTIN1 NF1 OCA2 PDGFRA PLCB4 RIC1 SH2B1 SLC2A3 SNRPN SRPX2 STAG2 TP63 UBB HP_SPERMATOGENESIS_MATURATION_ARREST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPERMATOGENESIS_MATURATION_ARREST M1AP MOV10L1 MSH5 PNLDC1 SYCE1 TDRD9 TERB1 TERB2 TEX11 XRCC2 HP_SPHEROCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPHEROCYTOSIS ANK1 EPB42 RHAG RHCE RHD SLC4A1 SPTA1 SPTB HP_SPIDER_HEMANGIOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPIDER_HEMANGIOMA GPR35 MST1 SEMA4D SLC37A4 TCF4 HP_SPINAL_CANAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CANAL_STENOSIS ADAMTS10 AIP AKT1 ARSL CASZ1 CSPP1 DMP1 ENPP1 EXTL3 FBN1 FGFR3 GABRD GPR101 HSPG2 IARS2 IDS IDUA KANSL1 KCNAB2 KIAA0586 LUZP1 MMP23B MYH3 NFATC2 NOG PDE4D PDPN PHEX PHF6 PRDM16 PRKAR1A PRKCZ RERE RIPPLY2 RRAS2 SKI SPEN TBCE TRPM3 TTR UBE4B ZNF341 HP_SPINAL_CORD_COMPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_COMPRESSION AKT1 APC ARSL B2M B3GALT6 CCND1 COG4 COL2A1 COMP CREBBP DDR2 DNA2 EP300 EXT1 EXT2 EXTL3 FLNB FOXE1 GNAS HABP2 HBB IDS IDUA KIF1B MINPP1 NEPRO NFIX PHEX RMRP SLC26A2 TRPV4 HP_SPINAL_CORD_LESION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_LESION ABCA1 ACY1 B4GAT1 CCM2 CCNQ CLP1 COG4 CREBBP CTNNB1 DDHD2 DDR2 DKK1 EP300 EXT1 EXT2 FBLN1 FOXF1 GLRX5 HMGA2 HNRNPK IL11RA KDM1A KPNA3 KRIT1 LEMD3 MBTPS2 NFIA NOTCH2 NOTCH3 NRAS PDCD10 PIK3CA RAI1 RBM8A RTN2 RUNX2 SETD2 SH2B1 SLC33A1 SPARC TBX6 UBAP1 VANGL1 WASHC5 HP_SPINAL_CORD_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_TUMOR CCND1 COQ6 CREBBP FLI1 LZTR1 NF2 RELA SMARCB1 VHL ZFTA HP_SPINAL_DYSRAPHISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_DYSRAPHISM ACTB AMER1 ARID1B ARVCF ATP6V1B2 B3GLCT BAZ1B BCL7B BICD2 BMP2 BMS1 BRAF BRCA1 BRCA2 BRIP1 BUD23 CCBE1 CCL2 CCNQ CDK13 CHN1 CHRNG CLIP2 COL18A1 COLEC10 COLEC11 COMT CREBBP CUL7 DACT1 DARS1 DLK1 DLL3 DLL4 DNAJC30 EIF4H ELN EP300 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FIBP FKBP6 FLI1 FLNA FLNB FUZ GDF3 GDF6 GP1BB GTF2I GTF2IRD1 GTF2IRD2 HAAO HES7 HIRA HMX1 HRAS IKBKG IRF6 ITGB4 JMJD1C KANSL1 KCNH1 KIF22 LFNG LIG4 LIMK1 LMX1B MAD2L2 MAFB MAP3K7 MASP1 MEG3 MEOX1 MESP2 METTL27 MLXIPL MTHFD1 MTHFR MTR MTRR MYH3 NCF1 NEK9 NF1 NOTCH2NLC NSUN2 PALB2 PAX3 PHGDH PIK3CA PLEC POLA1 PORCN PSAT1 PTCH1 PTDSS1 PTPN11 PUF60 RAB23 RAD51 RAD51C RAF1 RBM8A RECQL4 RFC2 RFWD3 RIPPLY2 RMRP RORA RPS19 RREB1 RTL1 RUNX2 SALL4 SEC24C SLC25A19 SLX4 SNRPB SOX9 STX1A SUPT16H TBC1D24 TBL2 TBX1 TBX6 TBXT TMEM270 TNXB TRIM36 UBA2 UBE2T UFD1 VANGL1 VANGL2 VPS37D WBP11 XRCC2 ZIC1 HP_SPINAL_MUSCULAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_MUSCULAR_ATROPHY ASAH1 ASCC1 ATP7A BICD2 CHCHD10 DNAJB2 DYNC1H1 EXOSC8 FBXO38 IGHMBP2 KCNK9 MORC2 PLEKHG5 SIGMAR1 SMN1 SMN2 TBCE TK2 TRIP4 TRPV4 UBA1 VAPB VRK1 HP_SPINAL_RIGIDITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_RIGIDITY ACTA1 ACVR1 AGRN BAG3 CAPN3 CAVIN1 CFL2 CHAT COL12A1 COL13A1 COL2A1 COL6A1 COL6A2 COL6A3 DES DNAJB4 DYSF EMD ERLIN2 FHL1 FKTN HSPG2 INPP5K JAG2 KBTBD13 KLHL41 KY LMNA LMOD3 MGME1 MYBPC1 MYH7 MYMK MYO9A MYPN NEB ORAI1 POMT1 POMT2 PYROXD1 SCN4A SELENON SLC18A3 SLC25A1 SLC5A7 SNAP25 SYNE1 SYNE2 SYT2 TMEM43 TNNT1 TNPO3 TOR1AIP1 TPM2 TPM3 TRIP4 TTN VAMP1 HP_SPINA_BIFIDA_OCCULTA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINA_BIFIDA_OCCULTA ACTB AMER1 ARID1B ATP6V1B2 B3GLCT BAZ1B BCL7B BICD2 BMP2 BRAF BUD23 CCBE1 CCL2 CCNQ CDK13 CHN1 CHRNG CLIP2 COL18A1 COLEC10 COLEC11 CREBBP CUL7 DACT1 DARS1 DLL3 DNAJC30 EIF4H ELN EP300 FIBP FKBP6 FLNA FLNB FUZ GTF2I GTF2IRD1 GTF2IRD2 HES7 HMX1 IKBKG IRF6 KCNH1 LFNG LIG4 LIMK1 MAFB MAP3K7 MASP1 MESP2 METTL27 MLXIPL MYH3 NCF1 NEK9 NOTCH2NLC NSUN2 POLA1 PORCN PTDSS1 PTPN11 PUF60 RAB23 RAF1 RECQL4 RFC2 RIPPLY2 RORA RPS19 RUNX2 SALL4 STX1A TBC1D24 TBL2 TBX6 TBXT TMEM270 TNXB VANGL1 VANGL2 VPS37D WBP11 ZIC1 HP_SPINOCEREBELLAR_TRACT_DEGENERATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINOCEREBELLAR_TRACT_DEGENERATION ATXN1 ATXN2 ATXN3 GCLC GJB1 MAN2B1 PLP1 PRKAR1B REPS1 TDP1 HP_SPLANCHNIC_VEIN_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLANCHNIC_VEIN_THROMBOSIS CASR CD55 CFTR CPA1 CTNNB1 CTRC EPAS1 JAK2 KCNN4 MET MPL NOTCH1 PIEZO1 PIGA PIGM PRSS1 PRSS2 SERPINC1 SLC4A1 SPINK1 TET2 HP_SPLENOMEGALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLENOMEGALY ABCA1 ABCA12 ABCB11 ABCB4 ABCD3 ABCG8 ABL1 ADA ADA2 ADAMTS3 ADAR AFF4 AGA AGPAT2 AKR1D1 AKT1 ALAS2 ALDOA ALG1 ALG9 ALMS1 ALPK1 ANK1 ANKRD55 AP3B1 AP3D1 APOA1 APOC2 APOE ARSB ARVCF ASAH1 ASXL1 ATM ATP6AP1 ATP6V1B2 ATP7B ATP8B1 ATRX B2M B4GALT1 BACH2 BCL11A BCL2 BCL6 BCR BMP2 BMP6 BPGM BRAF BRCA1 BRCA2 BSCL2 BTD BTNL2 C4A CA2 CALR CARD11 CASK CASP10 CASP8 CASR CAV1 CAVIN1 CBL CC2D2A CCBE1 CCDC115 CCDC47 CCND1 CCR1 CD19 CD247 CD27 CD28 CD3D CD3E CD40LG CD70 CD81 CDAN1 CDIN1 CDKN2A CFAP410 CFTR CHD7 CLCN7 CLDN1 CLPB COG1 COG4 COG5 COG6 COG7 COMT COX10 COX4I2 CPOX CR2 CSF3R CSPP1 CTC1 CTLA4 CTNS CTSA CTSK CYBA CYBB CYBC1 CYP7B1 DCDC2 DCLRE1C DDRGK1 DGUOK DHCR24 DHCR7 DKC1 DLK1 DLL4 DNASE1L3 DNASE2 DPM1 DYNC2LI1 DZIP1L EPB41 EPB42 EPOR ERAP1 ERBB3 ERCC6 ERCC8 F5 FAH FARSA FAS FASLG FAT4 FCGR2A FCHO1 FERMT3 FGA FGFR2 FMO3 FOCAD FOXP3 FUCA1 G6PC3 G6PD GAA GALE GALK1 GATA1 GATA2 GBA1 GBE1 GCLC GEMIN4 GIMAP5 GLB1 GLIS3 GLRX5 GNB2 GNE GNPTAB GNS GP1BA GP1BB GPC3 GPC4 GPD1 GPI GPIHBP1 GPR35 GUSB GYPC HAMP HAVCR2 HBA1 HBA2 HBB HBG1 HBG2 HCK HEXB HFE HGSNAT HIRA HJV HK1 HLA-B HLA-DRB1 HPGD HSD17B4 HSD3B7 IARS1 ICOS IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IFT172 IKBKG IKZF3 IL10 IL12A IL12A-AS1 IL1RN IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R INPP5E INPPL1 IRF2BP2 IRF4 IRF8 ITCH ITK JAK1 JAK2 JAK3 JMJD1C KCNH1 KCNMA1 KCNN3 KCNN4 KIF3B KIT KLF1 KLRC4 KPTN KRAS LACC1 LAT LBR LCAT LIG4 LIPA LMNA LPIN2 LPL LRBA LSM11 LYST LYZ MAGT1 MAN2B1 MCM4 MECOM MED12 MEFV MEG3 MICU1 MIF MKS1 MMUT MOGS MPIG6B MPL MS4A1 MST1 MVK MYD88 MYO5B NAE1 NAGLU NBEAL2 NCF1 NCF2 NCF4 NCKAP1L NDUFS4 NEU1 NFKB1 NFKB2 NFKBIA NGLY1 NHLRC2 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NOTCH1 NOTCH2 NPC1 NPC2 NPHP3 NPM1 NRAS OAS1 OCLN OSTM1 OTC PALB2 PALLD PARN PDGFRA PEPD PEX13 PEX2 PEX7 PHKA2 PHKB PHKG2 PHYH PIBF1 PIEZO1 PIGA PIGM PIK3C2A PIK3CA PIK3CD PIK3CG PIK3R1 PKHD1 PKLR PLEKHM1 PNP PNPLA2 PPARG PRF1 PRKCD PSAP PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPN2 PTPN22 PTPRC RAB27A RABL3 RAC2 RAG1 RAG2 RASGRP1 RBCK1 RBM8A RHAG RHCE RHD RINT1 RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RORC RPGRIP1L RREB1 RTEL1 RTL1 RUNX1 SAMD9L SAMHD1 SC5D SCARB2 SCYL1 SEC23B SEC24C SEMA4D SERPINA1 SF3B1 SGSH SH2B3 SH2D1A SKIC2 SKIC3 SLC17A5 SLC25A13 SLC29A3 SLC2A1 SLC30A10 SLC37A4 SLC39A4 SLC4A1 SLC7A7 SLCO2A1 SMAD4 SMPD1 SNX10 SNX14 SOCS1 SOX10 SP110 SPTA1 SPTB SRSF2 STAT1 STAT3 STAT4 STEAP3 STX11 STXBP2 SUMF1 SYK TALDO1 TBX1 TBXAS1 TCF3 TCF4 TCIRG1 TERC TERT TET2 TFE3 TGFB1 THPO TINF2 TLR4 TLR8 TMEM67 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFRSF4 TNFRSF9 TNFSF11 TNFSF12 TOM1 TP53 TPI1 TPP2 TRAC TREX1 TRNT1 TRPV6 TTC26 TULP3 TYMS UBAC2 UBR1 UFD1 UMPS UNC13D UROD UROS USB1 USP53 VPS11 VPS13A VPS33A VPS33B VPS45 WDR1 WDR35 WRAP53 XIAP XK YARS1 YME1L1 ZAP70 ZFYVE19 ZNF699 ZNFX1 HP_SPLIT_FOOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_FOOT DLX5 FGFR2 GLI3 MAP3K20 PORCN TP63 UBA2 WNT10B HP_SPLIT_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_NAIL AARS1 CARS1 DKC1 EFNB1 ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A TARS1 HP_SPOKEN_WORD_RECOGNITION_DEFICIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOKEN_WORD_RECOGNITION_DEFICIT CHMP2B GRIN2A GRN HSD17B10 MAPT PSEN1 TMEM106B TREM2 VCP HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA ACAN AIFM1 B3GALT6 BGN COL2A1 DDR2 DDRGK1 DYM EXOC6B IARS2 KIF22 MATN3 MMP13 NANS PAPSS2 RSPRY1 TONSL HP_SPONDYLOEPIPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA ACAN CCN6 CHST3 COL11A1 COL2A1 IARS2 MBTPS1 NMNAT1 RNU4ATAC RPL10 SMARCAL1 TRAPPC2 TRPV4 HP_SPONDYLOLISTHESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLISTHESIS AGA BMP2 COL2A1 CTSK FBN1 IDUA KANSL1 LMX1B MAN2B1 MYH3 PABPN1 RUNX2 SMAD3 TGFB2 TGFB3 TGFBR2 ZNF469 HP_SPONDYLOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLYSIS AGA CTSK FLNA FLNB LMX1B RUNX2 HP_SPONDYLOMETAPHYSEAL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA ACP5 CFAP410 COL2A1 FN1 GPX4 PAM16 PCYT1A TRIP11 TRPV4 HP_SPONTANEOUS_HEMATOMAS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMATOMAS ACVRL1 ATP7A CD109 COG8 ENG F10 F13A1 F13B F5 F8 GDF2 GP1BA GP1BB GP9 ITGA2 ITGA2B ITGB3 PRKACG SERPINE1 SMAD4 WAS WIPF1 HP_SPONTANEOUS_HEMOLYTIC_CRISES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMOLYTIC_CRISES ANK1 EPB42 GPI SLC2A1 SLC4A1 SPTA1 SPTB HP_SPONTANEOUS_PAIN_SENSATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PAIN_SENSATION ATP1A2 CACNA1A PMP22 PRRT2 SCN1A HP_SPONTANEOUS_PNEUMOTHORAX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PNEUMOTHORAX ADAMTS2 ADAMTS3 CAV1 COL3A1 DZIP1L FLCN PKHD1 SFTPB SFTPC TGFBR2 THSD4 HP_SPONTANEOUS_RECURRENT_EPISTAXIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_RECURRENT_EPISTAXIS ACVRL1 ENG GBA1 GDF2 GP1BA GP1BB GP9 HPS3 ITGA2B ITGB3 LYST MYH9 SRC HP_SPORADIC https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPORADIC ACAT2 ADA2 ADH1C AKT1 ALDH18A1 ALX3 ATXN2 ATXN8OS BCL10 CACNA1S CDON CHD7 COQ2 CPLX1 CREBBP CTBP1 DRD5 EHMT1 EP300 FGFR1 FGFR3 FGFRL1 FLCN FLNB FOXG1 GATA1 GBA1 GJA5 GJA8 GLI2 GLUD2 GNAQ GNAS GNAS-AS1 HERC2 HLA-DRB1 HNF1A HNF1B HRAS IGF2 IRF6 JAK2 KIF1B KIT KRAS LETM1 LMNB2 MAGEL2 MAP2K1 MAPT MEF2C MKRN3 MT-TT MTOR MYC NFIA NFIX NIPBL NLGN4X NPAP1 NR4A2 NRAS NSD2 OGG1 PAFAH1B1 PBRM1 PDGFRA PIK3CA PSEN1 PTDSS1 PWAR1 PWRN1 RAI1 RB1 RNF139 RPS14 RPS6KA3 SDHB SDHC SHANK3 SIN3A SIX3 SKI SNCAIP SNORD115-1 SNORD116-1 SNRPN SPECC1L STK11 STX16 SUMO1 TBP TINF2 TSC1 TSC2 TSHR TUBB4A UBE3A VHL ZBTB20 HP_SPOTTY_HYPERPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPERPIGMENTATION BANF1 CRIPT FERMT1 KRT14 KRT5 LYST PDE11A PRKAR1A SRD5A3 HP_SPOTTY_HYPOPIGMENTATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPOPIGMENTATION ABCB6 ABCC9 BLM CRIPT EBP FERMT1 KRT14 KRT5 UBE2A HP_SPRENGEL_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPRENGEL_ANOMALY ADA2 BRAF CDH2 COL3A1 EFNB1 EMD FHL1 FLNA GATA1 GDF3 GDF6 HEATR3 HSPG2 LMNA MAP3K7 MEOX1 NPR2 PAX3 PTCH1 PTPN11 RAF1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEPTIN9 SF3B4 SYNE1 SYNE2 TBX2 TBX3 TBX5 TMCO1 TMEM43 TSR2 WBP11 HP_SQUAMOUS_CELL_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA AAGAB AARS1 ANAPC1 ATR BLM BRD4 CARS1 CDKN2A CIB1 COL14A1 COL17A1 COL7A1 CTSC DDB2 DKC1 DOCK8 ERCC2 ERCC3 ERCC4 ERCC5 FDPS FERMT1 GATA1 GJB2 GJB6 GTF2E2 GTF2H5 IL7 ING1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 LMNA MC1R MMP1 MPLKIP MVD MVK NAF1 NLRP1 NTHL1 NUTM1 OCA2 POLH PSENEN RECQL4 RNF113A RSPO1 SASH1 SLC17A9 SLX4 SMARCAD1 STAT1 TARS1 TERC TERT TINF2 TMC6 TMC8 TNFRSF10B TOM1 TYMS TYR UROS WNT10A WRN XPA XPC HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN DDB2 ERCC2 ERCC3 ERCC4 ERCC5 IL7 KRT14 KRT5 LMNA MC1R NAF1 OCA2 RSPO1 SMARCAD1 TERC TERT TINF2 TMC8 TYMS TYR XPA XPC HP_SQUARED_ILIAC_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARED_ILIAC_BONES AEBP1 CEP120 COG1 HSPG2 INPPL1 LONP1 MATN3 NEPRO PAM16 PLCB3 PTH1R RNU4ATAC TRPV4 HP_SQUARE_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARE_FACE ADAMTSL1 CHD7 CREBBP EP300 IFT57 KDM5B LIFR OSTM1 PUF60 SETD1B WAC HP_STAGE_5_CHRONIC_KIDNEY_DISEASE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE ACTN4 AGXT AHI1 ALG5 ALG9 ALMS1 ANKFY1 ANKS6 ANLN APOL1 APRT ARHGAP24 ARHGDIA AVIL BBIP1 BICC1 BNC2 BSND C3 CC2D2A CD151 CD2AP CD81 CEP164 CEP290 CEP83 CFHR5 CLCN5 CLCNKA CLCNKB CLDN19 COL4A3 COL4A4 COL4A5 COL4A6 COQ6 COQ8B CPT2 CRB2 CTNS DAAM2 DCDC2 DGKE DNAJB11 DSTYK DZIP1L EHHADH EMP2 FAN1 FN1 GANAB GAPVD1 GATM GLIS2 GON7 GSN HNF1B IFNG IFT122 IFT140 IFT43 INF2 INVS IQCB1 JAG1 LAGE3 LAMA5 LAMB2 LMX1B LZTFL1 MAFB MAGI2 MAPKBP1 MEFV MMUT MUC1 MYO1E MYOCD NDUFAF6 NEK8 NOD2 NOS1AP NPHP1 NPHP3 NPHP4 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCRL OSGEP PAX2 PKD1 PKD2 PKHD1 PLCE1 PRKCD PTPRO RAD51C RNU7-1 ROBO1 RPGRIP1L RRM2B SDCCAG8 SGPL1 SLC34A1 SLC37A4 SLC41A1 SLC7A7 SMARCAL1 SPRY2 SRCAP TBC1D8B TMEM126B TMEM231 TMEM67 TP53RK TPRKB TRAF3IP1 TRPC6 TSC1 TSC2 TTC21B TTC26 WDR19 WT1 XPNPEP3 YRDC ZMPSTE24 HP_STAPES_ANKYLOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAPES_ANKYLOSIS ABCC6 ENPP1 GJB2 GJB6 IL11RA NOG POU3F4 RAD21 HP_STARING_GAZE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STARING_GAZE AARS2 AGRN ATXN1 CHAT COL13A1 HTT KCNQ2 KCNT2 MYO9A NEXMIF NGLY1 PNKD PRRT2 SCN2A SLC18A3 SLC25A1 SLC2A3 SLC5A7 SNAP25 SYNJ1 SYT2 VAMP1 HP_STATUS_EPILEPTICUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS AARS1 ABCC8 ACTL6B ADGRV1 ADORA2A AGO1 AKT3 ALDH4A1 ALDH5A1 ALDH7A1 AMACR AP3B2 ARV1 ARX ASAH1 ATP1A1 ATP1A2 ATP1A3 ATP5PO ATP6V0A2 ATP6V1A ATXN10 BCL10 BRAT1 BSCL2 CACNA1A CACNA1B CACNA1E CACNA2D1 CACNB4 CAD CARS1 CARS2 CCDC88A CDK19 CDKN1A CDKN1B CDKN2B CDKN2C CELF2 CHD2 CILK1 CLCN2 CLN6 CLTC CNKSR2 CNTNAP2 COG8 COQ2 COQ8A COX10 COX7B CTSD CYFIP2 DALRD3 DEAF1 DHCR24 DHDDS DIS3L2 DNM1 DNM1L DTYMK ECE1 EEF1A2 EFHC1 EHMT1 EPM2A FBXO28 FGF12 FGF13 FH FIG4 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GET4 GLYCTK GNB1 GOSR2 GPAA1 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GRM7 HCCS HCN1 HNRNPU IFNG IQSEC1 ITPA JRK KCNA2 KCNB1 KCNC2 KCNJ11 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD7 KIF11 LMNB2 MAST3 MECP2 MEN1 MICU1 MRM2 MTOR NARS2 NDUFA6 NDUFA8 NDUFB11 NECAP1 NEXMIF NHLRC1 NTRK2 NUS1 ODC1 OGDHL PACS2 PARS2 PCDH19 PDE2A PDSS2 PET100 PEX5 PGM2L1 PIGA PIGS PIK3CA PLPBP PNPO POLG PPP3CA PRODH PRRT2 PSAP QARS1 RHOBTB2 RNU4ATAC RRM2B SATB1 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SLC12A5 SLC13A5 SLC19A3 SLC1A2 SLC1A3 SLC25A12 SLC2A1 SLC38A3 SMARCA2 SMARCAL1 SON ST3GAL5 STRADA STX1B STXBP1 SVBP SYNGAP1 SYNJ1 SZT2 TBC1D20 TBC1D24 TBK1 TICAM1 TIMM50 TLR3 TRAF3 TRAK1 TRAPPC2L TSC1 TSC2 TWNK UBA5 UCP2 UNC93B1 UPB1 UQCC2 VAMP2 VARS1 VPS51 WDR4 WWOX YWHAG HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS ADGRV1 ADORA2A CDKN1A CDKN1B CDKN2B CDKN2C CHD2 CLN6 DNM1 GABRA1 GABRD GABRG2 GRIN2A HCN1 HNRNPU MEN1 ODC1 PCDH19 POLG SCN1A SCN1B SCN2A SCN9A SLC1A2 STX1B HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS ASAH1 BRAT1 CACNA1A COQ8A FBXO28 GABRA1 GABRG2 GOSR2 KCNC2 KCTD7 MAST3 MRM2 PCDH19 PDE2A PDSS2 PEX5 POLG SCN1A SCN1B SCN2A SCN9A SLC1A2 SLC2A1 SLC38A3 SYNJ1 TWNK VAMP2 HP_STEATORRHEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEATORRHEA ACOX2 AKR1D1 ANTXR2 APOB CCDC47 CEACAM3 CEACAM6 CFTR CLCA4 CLMP COX4I2 CTRC CYP7B1 DCTN4 DNAJC21 EDNRA EFL1 EPCAM FCGR2A GCLC GSTM3 HFE HLA-DQA1 HLA-DQB1 HMOX1 HSD3B7 KCNN4 LBR LIPA MIF MPI MTTP PERCC1 PEX12 PMM2 PNLIP PRSS1 PRSS2 PTF1A PTRH2 SAR1B SBDS SERPINA1 SHPK SLC10A2 SLC11A1 SLC26A9 SLC51B SLC6A14 SLC7A7 SLC9A3 SPINK1 SRP54 STX1A TGFB1 TJP2 HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL ANAPC7 B3GLCT CHN1 COG1 COL2A1 COL7A1 CPLX1 CTBP1 EDN1 EDNRA EYA1 FAT4 FGFR2 FGFRL1 GMNN GNAI3 GPRASP2 HMX1 HOXA2 LETM1 MAF MAFB MED12 NSD2 PLCB4 POR PORCN RPL26 RPS28 SALL4 SIX1 SIX5 SLC12A2 SOST SP7 TBX15 TP63 TWIST2 HP_STEPPAGE_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEPPAGE_GAIT ADSS1 ATL1 ATL3 ATP1A1 BICD2 CLIC2 COA7 COX6A1 DCAF8 DHH EGR2 FHL1 GAN GBF1 GDAP1 GNB4 GNE GRIN2A HARS1 HINT1 HNRNPA1 HSPB1 HSPB3 IGHMBP2 INF2 KARS1 KIF1B KLHL9 LMNA LRSAM1 MARS1 MFN2 MPZ MTRFR MTTP NEB NEFL PDK3 PLEKHG5 PMP2 PMP22 POLG PRX RAB7A SBF2 SCO2 SLC25A46 SLC30A10 SPTLC1 SPTLC2 SQSTM1 TDP1 TIA1 TTN VAC14 VCP HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME AVIL COQ6 COQ8B CRB2 DAAM2 EMP2 KIRREL1 LAMA5 MAGI2 NUP133 NUP160 NUP205 NUP85 NUP93 SGPL1 TBC1D8B TPRKB HP_STIFF_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_NECK COL2A1 DKK1 NDE1 NDUFS3 NEK9 HP_STIFF_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_SKIN ADA2 FBN1 LMNA PSMB8 SLC29A3 SMAD4 ZMPSTE24 HP_STILLBIRTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STILLBIRTH ALPL CALCRL CENPF CEP120 CEP55 COL11A1 COL2A1 ESCO2 FLNA FLNB GBA1 GDF5 GRIP1 HYLS1 IL6ST LBR LGI4 MUSK NEK8 NSDHL OSTM1 PHGDH PITX1 POR PTH1R RMND1 RNU4ATAC SLC26A2 SLC35D1 TRIP11 WT1 ZMPSTE24 HP_STOMACH_CANCER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMACH_CANCER AAGAB APC BLM BMPR1A BUB1 BUB1B BUB3 CASP10 CDH1 CDKN2A CEP57 CHEK2 COL14A1 ERBB2 FGFR2 IL1B IL1RN IRF1 KLF6 KRAS MDM2 MSH3 MUTYH PIK3CA RPS20 SEMA4A STK11 TP53 TRIP13 HP_STOMATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATITIS BCOR C4A CARMIL2 CASP10 CCR1 CD40LG CEBPE CLPB DCLRE1C ELANE ERAP1 FAS FASLG FIP1L1 GCGR GFI1 HLA-B HLA-DQA1 HLA-DQB1 HYOU1 IFNGR1 IL10 IL12A IL12A-AS1 IL17RC IL1RN IL23R IL6 IRF2BP2 IRF9 ITK KLRC4 KYNU LMBRD1 MALT1 MEFV MMACHC MVK NABP1 NCF4 NLRP12 NLRP3 NOD2 NPM1 NUMA1 ORAI1 PML PRKAR1A PRKCD PRKDC RARA RASGRP1 RHOH RIN2 RNF125 RORC SLC37A4 SRP19 SRP54 STAT3 STAT4 STAT5B STK4 TBL1XR1 TCIRG1 TICAM1 TLR4 TLR8 UBAC2 WDR1 ZAP70 ZBTB16 HP_STOMATOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATOCYTOSIS ABCB6 ABCG8 EPB41 GATA1 GP1BA GYPC RHAG RHCE RHD SLC2A1 SLC4A1 SPTA1 SPTB HP_STOOPED_POSTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOOPED_POSTURE ATP13A2 COL12A1 MECP2 POLG SLC18A2 SYNJ1 TK2 TMEM106B WARS2 HP_STREAK_OVARY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STREAK_OVARY BMP15 BNC1 CLPP DCAF17 DHH DHX37 DMRT3 ERAL1 FIGLA FOXL2 FSHR GATA4 HARS2 MAP3K1 MRPS22 MSH4 NOBOX NR0B1 NR5A1 NUP107 PAX6 POLR3H PPP1R12A PSMC3IP SETBP1 SOX9 SPIDR SRY STAG3 TP63 VAMP7 WT1 WWOX ZFPM2 ZSWIM7 HP_STRIAE_DISTENSAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIAE_DISTENSAE ABCC6 AIP ARMC5 ATRX BGN BRAF CDH23 CDKN2A COL1A1 COL5A1 COL5A2 COPB1 CTNNB1 CUL4B DLG4 ENPP1 FBN1 GNAS IPO8 LOX NR3C1 PDE11A PRKAR1A SMAD2 SMAD3 SPEN TERT TGFB2 TGFBR1 TGFBR2 TNXB TP53 USP48 USP8 ZNRF3 HP_STRIDOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIDOR AGRN AGTPBP1 CACNA1C CHAT COL13A1 COQ2 CTSK D2HGDH DST EXOSC3 EXOSC8 EXOSC9 FLNA GBA1 GNB1 GNPTAB GTPBP3 IGHMBP2 JAG1 KIF22 LAMA3 LAMB3 LAMC2 LYRM4 MAP3K7 MID1 MIR140 MYO9A NFASC NFIX PAX8 PLP1 SCARF2 SCN4A SCO2 SERPING1 SLC18A2 SLC18A3 SLC25A1 SLC25A46 SLC52A3 SLC5A7 SNAP25 SOX9 SYT2 TRPV4 TSPYL1 VAMP1 VPS33A VRK1 HP_STROKE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE ABCC6 ACAD9 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 AGXT ALOX5AP AMACR ANGPTL6 APP ASS1 ATRX B3GALT6 BAZ1B BCL7B BRAF BRCC3 BUD23 CALR CBS CCM2 CCND1 CDH23 CHMP2B CITED2 CLIP2 COL3A1 COL4A1 COLGALT1 CPS1 CST3 DNAJC30 DPAGT1 DPM3 DYRK1B EIF4H ELN ENG ENPP1 ERCC6 ERCC8 F2 F5 FBN1 FHOD3 FKBP6 FLNA FLNC FOXE3 GATA4 GATA6 GDF2 GLA GNAQ GNB2 GRN GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 GYS1 HBB HEY2 HSD11B2 HTRA1 JAG1 JAK2 KIF20A KRAS LIG3 LIMK1 LMNA LOX LRPPRC MAPT MAT2A MECP2 METTL27 MFAP5 MLXIPL MMACHC MMUT MPL MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MYBPC3 MYD88 MYH11 MYH6 MYLK MYPN NAGA NAGS NCF1 NDUFA8 NF1 NKX2-5 NOS3 NOTCH3 NPPA NR3C1 OTC PCNT PDE11A PIGA PIK3C2A PLIN1 PMM2 PNP PRKAR1A PRKCH PRKG1 PRNP PSEN1 RFC2 RFT1 RNF213 SCN5A SH2B3 SLC19A2 SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SNAP29 SNORD118 SON STIM1 STX1A TANGO2 TBL2 TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 THSD4 TLL1 TMEM106B TMEM270 TNNI3 TNNT2 TNXB TP53 TPP2 TREM2 TREX1 TRPV6 TTR USP48 USP8 VCP VHL VPS37D WFS1 XYLT1 XYLT2 ZAP70 ZMPSTE24 HP_STROKE_LIKE_EPISODE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE_LIKE_EPISODE AMACR DPAGT1 DPM3 HTRA1 LIG3 LRPPRC MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NDUFA8 PMM2 PRNP RFT1 STIM1 TTR WFS1 HP_STUTTERING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STUTTERING AP4E1 CHD3 HEXB KANSL1 LAS1L MAPT MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NEXMIF NSD1 SCYL1 TDO2 HP_ST_SEGMENT_DEPRESSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_DEPRESSION ACTC1 CITED2 CLCNKB GATA4 GATA6 MYH6 NKX2-5 PRKAG2 RYR1 SLC12A3 TBX20 TLL1 TNNC1 HP_ST_SEGMENT_ELEVATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_ELEVATION ABCC9 AKAP9 CACNA1C CACNA2D1 CACNB2 GPD1L GYG1 HCN4 KCND3 KCNE3 KCNE5 KCNJ8 PKP2 POLG PRKAG2 RANGRF SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TRPM4 HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS APC AXIN1 CASP8 CTNNB1 IGF2R MET PDGFRL PIK3CA TP53 HP_SUBARACHNOID_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBARACHNOID_HEMORRHAGE ACTA2 ACVRL1 ANGPTL6 APP CD109 COL3A1 DOCK8 ELN ENG F10 FBN1 FOXE3 GAA GDF2 GP1BA GP1BB HEY2 ITGA2 ITGA2B ITGB3 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 RASA1 SMAD2 SMAD3 SMAD4 STIM1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 HP_SUBCAPSULAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCAPSULAR_CATARACT ABHD12 ABHD5 ADAMTS18 ALMS1 ARL2BP ARL3 CFAP410 CHMP4B CNBP CYP1B1 EYS FOXC1 FOXE3 FZD4 GJA8 IDH3B IMPDH1 IMPG2 LCA5 LRAT LRP5 NF2 NR2E3 OAT OFD1 OPA3 PAX6 PDE6A PITX2 POLR3GL PRPF6 PRPF8 RBP3 REEP6 RPE65 SCAPER SPATA7 SPRTN TONSL TULP1 UNC45B WT1 XYLT2 ZNF408 HP_SUBCORTICAL_BAND_HETEROTOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_BAND_HETEROTOPIA CEP85L DCHS1 EML1 FAT4 KIF2A LAMB1 PAFAH1B1 TUBB TUBG1 TUBGCP2 HP_SUBCORTICAL_CEREBRAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_CEREBRAL_ATROPHY ACTB ACTG1 ADGRV1 ALG3 CDH23 CIB2 COG7 EHMT1 ESPN FGFR1 GCDH HNF1B KRAS LHX1 MAN2B1 MBTPS2 MYO5A MYO7A PANK2 PCDH15 PDZD7 POGZ SHPK TCTN3 USH1C USH1G USH2A WHRN HP_SUBCORTICAL_HETEROTOPIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_HETEROTOPIA CEP85L COL4A2 CRPPA DCHS1 EML1 FAT4 KIF2A LAMB1 PAFAH1B1 TUBB TUBG1 TUBGCP2 HP_SUBCORTICAL_WHITE_MATTER_CALCIFICATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_WHITE_MATTER_CALCIFICATIONS ERCC1 ERCC6 ERCC8 KARS1 SNORD118 HP_SUBCUTANEOUS_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_HEMORRHAGE ABCC6 ACP5 ACTA2 ACVRL1 ADA2 ADAMTS2 AEBP1 AIP ANKRD26 APOE ARL6IP6 ARMC5 ARVCF ATP7A ATP7B ATRX B3GALT6 BCOR BGN BLOC1S3 BLOC1S5 BRAF C1R C1S C2 C4A CALR CASP10 CBS CD109 CD19 CD81 CDH23 CFH CFHR1 CFHR3 CHST14 CLCN7 COG8 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COMT CR2 CREB3L1 CTLA4 DCLRE1B DPP9 DSE DTNBP1 ELN EMILIN1 ENG ENPP1 EPHB2 ETHE1 ETV6 F10 F13A1 F13B F2 F5 F7 F8 FANCA FANCC FANCD2 FANCE FAS FASLG FBN1 FCGR2C FERMT3 FGA FGB FGG FIP1L1 FKBP10 FKBP14 FLNA FOXE3 FUCA1 FYB1 GATA1 GATA2 GBA1 GDF2 GFI1B GGCX GIMAP5 GNA11 GNA14 GNAS GP1BA GP1BB GP6 GP9 GSN HBA1 HBA2 HCK HEY2 HIRA HLA-DPA1 HLA-DPB1 HOXA11 HPS1 HPS3 HPS4 HPS5 HPS6 ICOS IFNG IPO8 IRF2BP2 ITGA2 ITGA2B ITGB3 JAK2 JAM2 JMJD1C KRAS LCP2 LMAN1 LOX LYST MAP2K1 MAPK1 MAT2A MCFD2 MFAP5 MPL MS4A1 MTAP MVK MYD88 MYH11 MYH9 MYLK MYORG NABP1 NAGA NBEAL2 NEU1 NFIX NFKB1 NFKB2 NLRP3 NPM1 NR3C1 NTRK1 NUMA1 OCLN ORAI1 P2RY12 PDE11A PDGFB PDGFRB PEPD PLAU PLEC PLOD1 PLOD3 PML PRDM5 PRF1 PRKACA PRKACG PRKAR1A PRKCD PRKG1 PROC PROS1 PRTN3 PTEN PTPN11 PTPN22 PYCR1 RAB27A RARA RASGRP1 RASGRP2 RIN2 RREB1 RUNX1 SAMD9 SBDS SCARB2 SEC24C SERPINE1 SERPINF2 SH2B3 SIK3 SLC20A2 SLC2A10 SLC35A1 SLC37A4 SLC39A13 SLC51A SLFN14 SMAD2 SMAD3 SMAD4 SNX10 SOS1 SPRED2 STAT3 STAT5B STIM1 STX11 STXBP2 TBL1XR1 TBX1 TBXA2R TCIRG1 TERC TERT TET2 TFR2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF11 TNFSF12 TNXB TP53 TREX1 UFD1 UNC13D USP18 USP48 USP8 VWF WAS WIPF1 XPR1 ZBTB16 ZNF469 HP_SUBCUTANEOUS_LIPOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_LIPOMA AKT1 BMPR1A CDKN1B FGFR1 MEN1 PIK3CA PTEN HP_SUBCUTANEOUS_NODULE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_NODULE ABCC6 ACVR1 AKT1 ANTXR2 APC APOE ASAH1 B2M BRAF BTNL2 C4A CCR1 CDK4 COL1A1 COL3A1 COL5A1 COL5A2 COL7A1 CTNNB1 CYLD DACT1 DDIT3 ECM1 ENPP1 ERAP1 FAS FBN1 FERMT3 FGFR1 FGFR2 FUS GLA GLS GNAS HLA-B HLA-DRB1 HMGA2 IARS2 IDH1 IDH2 IFNG IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL23R INSR KIF11 KLLN KLRC4 KRAS LEMD3 LSS MC1R MDM2 MEFV MLX MMP14 MMP2 MYSM1 NAGA NOTCH3 NRAS OCRL PDGFB PDGFRB PIK3CA POMP PORCN PTEN PTH1R PTPN11 RAF1 SALL1 SDHB SDHC SDHD SEC23B STAT4 TEK TLR4 TNFRSF11A TNFRSF11B TSC1 TSC2 UBAC2 USF3 HP_SUBDURAL_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBDURAL_HEMORRHAGE ACTA1 BICD2 DNM2 ERCC6 ERCC8 F8 FGA FGB FGG GCDH ITGA2B MMACHC RBM10 STT3A HP_SUBEPENDYMAL_CYSTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBEPENDYMAL_CYSTS D2HGDH GLUL PDHX PEX1 PLCH1 TUBGCP2 TXN2 HP_SUBGLOTTIC_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBGLOTTIC_STENOSIS AFF4 CENPE EFL1 FLNA FRAS1 FREM2 GRIP1 LTBP3 MAP3K7 NIN ROBO1 SF3B4 SMAD2 SNIP1 TBX3 TONSL HP_SUBMUCOUS_CLEFT_HARD_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_HARD_PALATE AMER1 AMMECR1 B3GALNT2 B4GAT1 BCOR BICRA BRAF CARS1 CDC45 CDC6 CDH11 CDT1 COL2A1 COL4A1 CRPPA CUL3 DAG1 DGCR2 DGCR6 DGCR8 DHCR24 ESS2 FKRP FKTN FOXP2 GDF11 GMNN GNPAT HAAO HS2ST1 HYAL1 HYLS1 KAT5 KAT6B KIF7 KRAS LARGE1 LIG4 LMNA MAP2K1 MAP2K2 NSUN2 ORC1 ORC4 ORC6 PIEZO2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPP2R5D PRKAR1B PRR12 PTDSS1 RAD21 RNU4ATAC RPS23 RXYLT1 SET SIAH1 SIX3 SMAD4 SMCHD1 SON SOX6 SOX9 STAG2 TBX1 TCTN3 WBP11 ZEB2 ZMPSTE24 HP_SUBMUCOUS_CLEFT_SOFT_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_SOFT_PALATE GRHL3 IPO8 KCNK9 NEK1 NONO POLR3A SON STAC3 TP63 UBB HP_SUBRETINAL_DEPOSITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_DEPOSITS C1QTNF5 CSPP1 CYP4V2 KIAA0586 TIMP3 HP_SUBRETINAL_FLUID https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_FLUID BEST1 CFH CFI CTNNB1 EFEMP1 FZD4 LRP5 NDP TSPAN12 ZNF408 HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA ISCU PNPT1 POLG SLC25A4 TWNK TYMP HP_SUBSTANTIA_NIGRA_GLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSTANTIA_NIGRA_GLIOSIS ADH1C ATXN2 ATXN3 ATXN8OS FBXO7 GBA1 GLUD2 LRRK2 MAPT MT-TT NR4A2 PRKN SNCA SNCAIP TBP HP_SUBUNGUAL_HYPERKERATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBUNGUAL_HYPERKERATOSIS CARD14 JUP KDF1 KRT14 KRT17 MBTPS2 TRPV3 HP_SUBVALVULAR_AORTIC_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBVALVULAR_AORTIC_STENOSIS ADAMTS19 BUB1 BUB1B BUB3 CAV3 CEP57 FGFR1 FOCAD GNB2 HDAC4 IFIH1 MYH6 MYH7 MYLK2 NKX2-5 PIGL PTPN11 SYT2 TAB2 TRIP13 WDPCP ZIC3 HP_SUDDEN_DEATH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_DEATH ABCA12 ABCC6 ABCG5 ABCG8 ACAD9 ACADVL AGK AKAP9 AKT1 ALG10B ANK2 APOB BAZ1B BCL7B BUD23 CACNA1C CACNA2D1 CALM1 CALM2 CALM3 CASQ2 CAV3 CLCF1 CLIP2 CPLX1 CPT1A CRLF1 CSRP3 DES DNAJC19 DNAJC30 DPP6 DSC2 DSG2 DSP DTNA EIF4H ELN EMD ENPP1 EYA4 FHL1 FHOD3 FIG4 FKBP6 FLNC GNAI2 GNB2 GPD1L GTF2I GTF2IRD1 GTF2IRD2 GUF1 HADHA HCN4 HLA-B HLA-DRB1 HRAS IKZF1 JUP KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 KLHL24 LDB3 LDLR LDLRAP1 LEMD2 LIMK1 LMNA LRP6 METTL27 MLXIPL MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK MYLK2 MYOZ2 NCF1 NOS1AP NUP155 P4HA2 PCSK9 PGM1 PKP2 PPA2 PRKAG2 PTEN PTPN22 RBM20 RFC2 RYR2 SCN10A SCN1A SCN4B SCN5A SCN8A SGCD SHQ1 SLC4A3 SMAD3 SNTA1 SOST STX1A SYNE1 SYNE2 TAB2 TBC1D24 TBL2 TBX5 TECRL TGFB3 TMEM270 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TRDN TSPYL1 TTN UBR7 VPS37D WAS WIPF1 HP_SUDDEN_EPISODIC_APNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_EPISODIC_APNEA AGRN CDKL5 CHAT CHRNE COL13A1 FARS2 GABBR2 MECP2 MYO9A NTNG1 SLC18A3 SLC25A1 SLC25A20 SLC39A8 SLC5A7 SMC1A SNAP25 SYT2 VAMP1 HP_SUDDEN_LOSS_OF_VISUAL_ACUITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY AIP BRAF CDH23 CTNNB1 MEN1 HP_SUDDEN_UNEXPECTED_DEATH_IN_EPILEPSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_UNEXPECTED_DEATH_IN_EPILEPSY CPLX1 FIG4 GUF1 SCN1A SCN8A SHQ1 TBC1D24 UBR7 HP_SUICIDAL_IDEATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUICIDAL_IDEATION ATRX BRAF CABP4 CDH23 CEP85L CHRNA2 CHRNA4 CHRNB2 CRH CYP27A1 DCDC2 DCTN1 DEPDC5 FIG4 HTT KCNT1 NR3C1 SLC2A3 SPTBN1 TMEM67 TP53 USP48 USP8 HP_SUNKEN_CHEEKS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUNKEN_CHEEKS AEBP1 CAV1 LRP1 NGLY1 PSMC3 TUBB4A HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON ACTB AFF3 ANK1 ANKRD11 DHODH GATA6 GDF11 GPC3 GPC4 IFT57 IKBKG MAF MTX2 NIPBL PAX3 PDGFRB PTCH1 PUF60 RBM8A RPS26 RUNX2 SF3B2 SIX6 SKI SON SOX2 TBX6 HP_SUPERNUMERARY_CUSP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_CUSP CHSY1 CREBBP EP300 NEK1 NHS HP_SUPERNUMERARY_MAXILLARY_INCISOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_MAXILLARY_INCISOR IRF6 MSX1 NECTIN1 NHS TP63 HP_SUPERNUMERARY_NIPPLE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_NIPPLE ACTB ARHGAP31 ASXL1 ASXL3 CDH2 CHAMP1 CKAP2L COLEC10 COLEC11 CSPP1 DDX6 DHODH GDF11 GPC3 GPC4 H4C9 HDAC4 HNRNPK HS2ST1 IKBKG JARID2 KDM1A KDM5B KIAA0586 KRAS MASP1 MDH2 MEGF8 NONO PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PNPLA6 PORCN PPP2R5D RNF216 STAG1 TCF4 TFAP2A TFAP2B TMCO1 TNRC6B TP63 TRRAP UBA2 WDR19 ZEB2 ZMYND11 HP_SUPERNUMERARY_SPLEENS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_SPLEENS ACVR2B ATP6AP1 B9D1 B9D2 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDON CENPF CEP290 CFAP221 CFAP298 CFAP300 CFAP45 CFAP74 CFC1 CPLX1 CREBBP CSPP1 CTBP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EP300 ESCO2 EXOC2 FGFRL1 FOXJ1 GAS2L2 GAS8 GDF1 GPC3 GPC4 HYDIN HYLS1 LETM1 LRRC56 LTBP4 MCIDAS MEGF8 MKS1 MMP21 MYCN MYRF NEK10 NME5 NME8 NPHP3 NSD2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PPP2R3C PRIM1 RAB23 RFWD3 RPGR RPGRIP1 RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC12 TXNDC15 WDR35 WT1 YARS1 ZIC3 ZMYND10 HP_SUPERNUMERARY_TOOTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_TOOTH ACSL4 ADAMTS3 AMMECR1 APC ATP6V1B2 BCOR C2CD3 CAMTA1 CBFB CCBE1 CDH11 CREBBP DDX59 DHCR7 DVL1 DVL3 DYNC2LI1 DYRK1A EP300 EXT1 FAT4 FGF3 FZD2 HSPG2 IL11RA IL6ST IRF6 KCNE5 KCNH1 KCNMA1 KCNN3 KRT14 MSX1 MSX2 NECTIN1 NHS NXN OFD1 PIGL POU4F1 PUF60 RAD21 RECQL4 ROR2 RPS23 RUNX2 SLC37A4 TCF12 TP63 TRPS1 WNT5A HP_SUPERNUMERARY_VERTEBRAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_VERTEBRAE DHODH GDF11 GPC3 GPC4 PAX3 HP_SUPRANUCLEAR_GAZE_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_GAZE_PALSY AASS ACOX2 ADD3 AGTPBP1 ALDH4A1 ALS2 ATP13A2 ATXN1 C9orf72 CCDC88C CHCHD10 DCC DCTN1 DLAT EIF2AK2 ELOVL4 FA2H FTL FUS GBA1 HLA-DQB1 HOXA1 KCNC3 MAPT MTFMT NAXE NEK9 NOP56 NPC1 NPC2 PIGT PLA2G6 PLP1 POLG POLR3A POLR3B PRNP PSAP ROBO3 SIGMAR1 SPG11 SPG7 SPTLC1 SQSTM1 SYNJ1 TANGO2 TARDBP TBK1 TWNK UBAP1 VAMP1 VCP VPS13A HP_SUPRANUCLEAR_OPHTHALMOPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA ATXN1 ATXN2 ATXN3 ATXN7 GBA1 HP_SUPRAVALVULAR_AORTIC_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVALVULAR_AORTIC_STENOSIS ABCG5 ABCG8 APOB BAZ1B BCL7B BUD23 CLIP2 DNAJC30 DOCK7 EFEMP2 EIF4H ELN FBLN5 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LDLR LDLRAP1 LIMK1 LTBP1 METTL27 MLXIPL NCF1 PCSK9 RFC2 RRAS2 STX1A TBL2 TMEM270 VPS37D HP_SUPRAVENTRICULAR_ARRHYTHMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_ARRHYTHMIA ABCC9 ACTC1 ACTN2 AKAP9 ANK2 APRT BMP2 CACNA1C CACNA1S CACNA2D1 CACNB2 CASQ2 CAVIN1 CDH23 CITED2 CIZ1 CLIC2 COL4A1 COX7B CSRP3 DBH DES DMPK DNMT3A DTNA EMD FHL1 FHOD3 FLAD1 FLNC GATA4 GATA5 GATA6 GATAD1 GJA5 GNB2 GPD1L HCCS HCN4 JPH2 KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ2 KCNJ3 KCNJ5 KCNJ8 KCNK3 KCNQ1 KCTD1 KIF20A LAMP2 LMNA LMOD2 LRP12 MFAP5 MT-ATP6 MT-CYB MYH6 MYH7 MYL2 MYL4 MYOZ2 MYPN NAA10 NDUFB11 NEXN NKX2-5 NKX2-6 NODAL NPPA NUP155 PITX2 PKP2 PLN POLG POLG2 PRKAG2 PSEN2 RANGRF RRM2B RYR1 RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SEMA3A SGO1 SLC19A2 SLC25A4 SLC4A3 SLMAP SMAD3 SPRED1 SYNE1 SYNE2 TAB2 TBX20 TBX5 TLL1 TMEM43 TNNC1 TNNI3 TNNI3K TNNT2 TPM1 TRDN TRPM4 TTN TTR TWNK XK HP_SUPRAVENTRICULAR_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_TACHYCARDIA ABCC9 ACTC1 ACTN2 AKAP9 BMP2 CACNA1C CACNA1S CACNA2D1 CACNB2 CITED2 COX7B DNMT3A FLAD1 GATA4 GATA6 GPD1L HCCS HCN4 KCND3 KCNE3 KCNE5 KCNJ8 KCTD1 LMNA MT-CYB MYH6 MYL2 NAA10 NDUFB11 NKX2-5 NUP155 PKP2 RANGRF RYR1 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLC19A2 SLMAP SPRED1 TBX20 TLL1 TNNI3K TRPM4 TTN HP_SUTURAL_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUTURAL_CATARACT ACADS CRYBA1 CRYBB2 CRYGS GJA5 GJA8 NHS SEC23A HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS CD244 CIITA IL10 NFKBIL1 PCDHGC4 PEX5 PTPN22 SACS SLC22A4 HP_SWOLLEN_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWOLLEN_LIP ANGPT1 HS3ST6 KNG1 MYOF PHGDH PLG XPNPEP2 HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND BHLHA9 BMPR1B CHRNG CHSY1 FGF9 FGFR2 GDF5 HOXD13 IHH MYH3 MYH8 NOG NONO PQBP1 PTDSS1 ROR2 SLC26A2 TFAP2B HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER BHLHA9 GDF5 NOG NONO PQBP1 ROR2 TFAP2B HP_SYMPHALANGISM_OF_THE_5TH_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_THE_5TH_FINGER BHLHA9 GDF5 NOG ROR2 TFAP2B HP_SYMPTOMATIC_SEIZURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPTOMATIC_SEIZURES ABCC8 AKT2 CYP27B1 CYP2R1 FAM111A GATA3 GCK GCM2 GLUD1 GNAS HADH HNF1A INSR KCNJ11 MC2R MRAP NNT PCSK1 POGZ POMC PROP1 PTH SLC16A1 SLC25A36 SLC37A4 STAR STX16 TANGO2 TBCE TBX19 TNFRSF11A TXNRD2 UCP2 VDR HP_SYNCOPE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNCOPE ABCC8 ABCC9 ACTC1 AKAP9 AKT1 ALG10B ANK2 ASXL1 ATP13A3 BAP1 BVES CACNA1C CACNA1D CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CITED2 CLCNKB COQ2 CTSH DBH DSC2 DSP FLNC GATA4 GATA5 GATA6 GJA5 GNB2 GPD1L HCN4 HCRT HLA-DQB1 HLA-DRB1 HNF1A JAK2 JUP KCNA5 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ11 KCNJ2 KCNJ3 KCNJ5 KCNJ8 KCNQ1 KIF20A KIT LAMP2 LMNA MGAT2 MOG MPL MYBPC3 MYH6 MYL4 MYOZ2 MYPN NF2 NKX2-5 NKX2-6 NOS1AP NOTCH2NLC NPPA NTRK1 NUP155 P2RY11 PDGFB PIK3CA PITX2 PKP2 PRKAG2 PSEN1 PSEN2 RANGRF RNF125 RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCNN1A SEMA3A SLC12A3 SLC4A3 SLC6A5 SLMAP SMARCB1 SMARCE1 SMO SNTA1 SRSF2 SUFU TBX20 TBX5 TECRL TERT TET2 THPO TLL1 TNFSF4 TNNC1 TNNI3 TNNT2 TRAF7 TRDN TRPM4 TTN UCP2 ZNF365 HP_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNDACTYLY ABCC9 ADAMTS3 ADNP AKT1 ALDH1A2 ANKRD11 AP1G1 AP2M1 APC APC2 ARCN1 ARHGAP31 ARL6 ARL6IP6 ASXL1 ATP6V1B2 ATP9A B3GLCT BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BCR BHLHA9 BICRA BLM BLTP1 BMP2 BMP4 BMPR1B BMS1 BRCA1 BRCA2 BRD4 BRIP1 BTRC CACNA1C CACNA1G CAMTA1 CCBE1 CCDC22 CCDC28B CCND2 CCNQ CD96 CDAN1 CDC45 CDH1 CDH11 CDH3 CDIN1 CDKN1C CEP120 CEP19 CEP290 CEP55 CERT1 CFAP418 CHD2 CHRNG CHSY1 CHUK CILK1 CKAP2L CLCF1 CNOT2 CNTNAP1 CPLANE1 CREBBP CRIPT CRKL CSGALNACT1 CTCF CTNND1 CTNND2 CUL4B DACT1 DCHS1 DDX11 DDX6 DEAF1 DHCR7 DHODH DLL3 DLL4 DLX5 DLX6 DOCK6 DPYSL5 DSP DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP EED EFNB1 EN1 EOGT EP300 EPS15L1 ERCC4 ESCO2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBXW11 FBXW4 FDFT1 FERMT1 FGD1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FLI1 FLII FLNA FLNB FRAS1 FREM2 FZD2 GABRA3 GDF5 GJA1 GLI3 GNA11 GNE GPC3 GPC4 GRB10 GRIP1 H3-3A H4C9 HDAC4 HDAC8 HEPHL1 HERC2 HES7 HMGA2 HOXA11 HOXD13 IFT122 IFT140 IFT172 IFT27 IFT43 IFT52 IFT74 IFT80 IFT81 IGF2 IKBKG IL11RA IQCE IQSEC2 IRF6 IRX5 ITGB4 JARID2 JUP KAT6A KCNJ2 KCNJ5 KCNJ8 KCTD1 KDM6B KIAA0753 KIF7 KIFBP KMT2A KMT2B LAMA3 LAMB3 LAMC2 LEMD3 LFNG LIG4 LMBR1 LMNA LRP4 LTBP1 LZTFL1 MAB21L2 MAD2L2 MAGEL2 MAN1B1 MAP3K20 MAPK1 MAPKAPK5 MAPRE2 MARS2 MCTP2 MECOM MECP2 MED12 MED13L MED25 MEF2C MEGF8 MEIS2 MESP2 MIR17HG MKKS MKRN3 MKS1 MRPS28 MTRR MYCN MYH3 MYH8 MYRF NAA10 NARS1 NBAS NBN NECTIN1 NECTIN4 NEDD4L NEK1 NEK9 NEXMIF NIPBL NOG NOTCH1 NPAP1 NPHP1 NSD1 NSDHL NSUN2 NXN OFD1 ORC1 OTUD6B PALB2 PAX3 PDE6D PHF21A PHGDH PHIP PIBF1 PIEZO2 PIGY PIK3CA PITX1 PLAG1 PLEC PLXND1 PNPLA6 POLR3A POLR3GL PORCN PPP1R12A PPP2R3C PRKD1 PSAT1 PSMD12 PTDSS1 PTEN PUF60 PWAR1 PWRN1 RAB23 RAD21 RAD51 RAD51C RAI1 RALA RB1 RBBP8 RBM10 RBM8A RBPJ RERE REV3L RFWD3 RFX7 RHOA RIPK4 RIPPLY2 ROR2 RPL10 RTTN SALL1 SALL4 SATB1 SBF1 SC5D SCAPER SCARF2 SCLT1 SCN1A SCNM1 SDCCAG8 SEM1 SEMA5A SETBP1 SETD2 SETD5 SF3B4 SHANK3 SHH SHMT2 SIK3 SIN3A SLC12A2 SLC12A6 SLC25A24 SLC2A1 SLC39A8 SLC6A1 SLX4 SMAD2 SMAD4 SMARCAD1 SMC1A SMC3 SMO SMOC1 SNORD115-1 SNORD116-1 SOST SOX5 SPECC1L STAG1 SUZ12 SVBP SYNGAP1 SYT1 TBC1D24 TBCK TBR1 TBX15 TBX22 TBX5 TCTN3 TELO2 TFAP2B TGFBR2 TMEM216 TMEM231 TMEM53 TMEM94 TOPORS TP63 TRIM32 TRIO TRMT5 TRRAP TTC21B TTC26 TTC8 TTI2 TWIST1 TWIST2 TXNDC15 TXNL4A UBA2 UBE2A UBE2T UBE3A VAC14 VPS13B VPS35L WASHC5 WDPCP WDR19 WDR35 WLS WNT10B WNT5A WNT7A XRCC2 XYLT1 YY1AP1 ZEB2 ZMIZ1 ZNF699 ZSWIM6 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_FEET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_FEET ATP7A BHLHA9 BMPR1B CHSY1 FBLN1 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB GDF5 GDF6 GLI3 HOXD13 LMBR1 MAP3K20 MAP3K7 MKKS MYH3 NALCN NOG OFD1 POR RNU12 SALL1 SLC26A2 SMOC1 TBX4 TNNI2 TNNT3 TPM2 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND ANAPC1 APC ATP7A B3GALT6 BHLHA9 BMPR1B BPNT2 CHSY1 COL27A1 DYNC2LI1 EIF4A3 ESCO2 EVC EVC2 FBLN1 FGF16 FGF9 FGFR2 FGFR3 FLNA FLNB GDF5 GLI1 HOXA13 HOXD13 IHH LMBR1 LRP4 MACROH2A1 MAP3K7 MYH3 NOG NONO NXN PAX3 PITX1 POR PQBP1 PRKACA PRKACB PTDSS1 RBM8A RECQL4 ROR2 SALL4 SHH SMOC1 TCF12 TFAP2B TWIST1 ZIC1 HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS ANAPC1 APC ATP7A B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BHLHA9 BICRA BMPR1B BPNT2 BRD4 BUD23 CANT1 CBL CHST3 CHSY1 CLIP2 COL27A1 COLEC10 COLEC11 CPLX1 CSGALNACT1 CTBP1 CYP26B1 DHODH DNAJC30 DONSON DYNC2LI1 EIF4A3 EIF4H ELN ESCO2 EVC EVC2 FBLN1 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FKBP6 FLNA FLNB GDF5 GLI1 GSC GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HOXA11 HOXA13 HOXD13 IHH KAT6B KRAS LETM1 LIMK1 LMBR1 LRP4 LZTR1 MACROH2A1 MAF MAP3K7 MASP1 MECOM METTL27 MLXIPL MRAS MYH3 NCF1 NIPBL NOG NONO NRAS NSD2 NXN PAX3 PIEZO2 PITX1 POR PQBP1 PRKACA PRKACB PTDSS1 PTPN11 RAD21 RAF1 RASA2 RBM8A RECQL4 RFC2 RIT1 ROR2 RPL26 RRAS RRAS2 SALL4 SETBP1 SF3B4 SHH SMAD6 SMC1A SMC3 SMOC1 SOS1 SOS2 SPRED2 STX1A TBL2 TBX15 TBX22 TBX5 TCF12 TFAP2B TMEM270 TWIST1 VPS37D WNT7A XYLT1 ZIC1 HP_SYNOSTOSIS_INVOLVING_DIGITS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_DIGITS ANAPC1 BHLHA9 BMPR1B CHSY1 GDF5 IHH MAP3K20 NOG NONO PCNT PQBP1 PTDSS1 RECQL4 ROR2 TFAP2B HP_SYNOSTOSIS_INVOLVING_THE_ELBOW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_THE_ELBOW CYP26B1 DONSON FGF9 FGFR1 FGFR2 GDF5 NOG POR PTDSS1 TBX15 WNT7A HP_SYNOSTOSIS_OF_CARPALS_TARSALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPALS_TARSALS APC ATP7A B3GALT6 BHLHA9 BMPR1B BPNT2 CHSY1 COL27A1 DYNC2LI1 ESCO2 EVC EVC2 FBLN1 FGFR1 FGFR2 FGFR3 FLNA FLNB GDF5 GDF6 GLI1 GLI3 HOXA13 HOXD13 LMBR1 LRP4 MACROH2A1 MAP3K7 MKKS MYH3 NALCN NOG NXN OFD1 PAX3 PITX1 POR PRKACA PRKACB RBM8A RECQL4 RNU12 ROR2 SALL4 SHH SMOC1 TBX4 TNNI2 TNNT3 TPM2 HP_SYNOSTOSIS_OF_CARPAL_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPAL_BONES APC BHLHA9 BMPR1B DYNC2LI1 ESCO2 EVC EVC2 FGFR2 FLNA GDF5 GLI1 HOXA13 LMBR1 LRP4 MACROH2A1 MAP3K7 NOG NXN PAX3 PITX1 PRKACA PRKACB ROR2 SALL4 SHH SMOC1 HP_SYNOSTOSIS_OF_JOINTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_JOINTS ABCC6 ACVR1 AEBP1 AFF4 ANAPC1 ANKRD11 APC ASH1L ASXL2 ATP7A B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BHLHA9 BICRA BMPER BMPR1B BPNT2 BRD4 BRPF1 BUD23 CANT1 CBL CDH11 CHD4 CHN1 CHRNA1 CHRND CHRNG CHST3 CHSY1 CLIP2 COL27A1 COL2A1 COLEC10 COLEC11 CPLX1 CSGALNACT1 CTBP1 CYP26B1 DCC DHODH DKK1 DLL3 DNAJC30 DNAL4 DONSON DYNC2LI1 EIF4A3 EIF4H ELN ENPP1 ESCO2 EVC EVC2 FANCI FBLN1 FGD1 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FKBP6 FKRP FLNA FLNB FN1 FUZ GDF3 GDF5 GDF6 GLI1 GLI3 GPC3 GPC4 GSC GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HES7 HGD HOXA11 HOXA13 HOXD13 IHH IL1RN KANSL1 KAT6B KRAS LETM1 LIMK1 LMBR1 LRP4 LZTR1 MACROH2A1 MAF MAFB MAP3K20 MAP3K7 MASP1 MECOM MEOX1 MESP2 METTL27 MKKS MLXIPL MRAS MYH3 MYO18B NADSYN1 NALCN NCF1 NIPBL NOG NONO NOTCH3 NRAS NSD2 NTN1 NXN OFD1 PAX3 PCNT PIEZO2 PITX1 POLR1D POR PQBP1 PRKACA PRKACB PTCH1 PTCH2 PTDSS1 PTH1R PTPN11 PUF60 RAD21 RAD51 RAF1 RASA2 RBM8A RECQL4 RFC2 RIPK4 RIT1 RNU12 ROR2 RPL26 RRAS RRAS2 SALL1 SALL4 SETBP1 SF3B2 SF3B4 SHH SIX6 SLC26A2 SMAD4 SMAD6 SMC1A SMC3 SMOC1 SOS1 SOS2 SOX2 SOX5 SPRED2 STX1A SUFU TBL2 TBX15 TBX22 TBX4 TBX5 TBX6 TCF12 TFAP2A TFAP2B TMCO1 TMEM270 TNNI2 TNNT3 TPM2 TWIST1 VANGL1 VPS37D WBP11 WNT7A XYLT1 ZIC1 ZIC3 HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS BHLHA9 EIF4A3 FBLN1 FGF16 FGF9 FGFR3 GDF5 HOXD13 LRP4 MAP3K20 NOG NONO POR PQBP1 SALL1 SLC26A2 SMOC1 TCF12 TWIST1 ZIC1 HP_SYNOVIAL_LINING_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOVIAL_LINING_HYPERPLASIA ANKRD55 CD247 IL2RA IL2RB PRG4 PTPN2 PTPN22 STAT4 HP_SYRINGOMYELIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYRINGOMYELIA ABCA1 ACY1 CCNQ CLP1 COG4 CREBBP CTNNB1 DDHD2 DDR2 DKK1 EP300 EXT1 EXT2 FBLN1 FOXF1 HMGA2 HNRNPK IL11RA KDM1A LEMD3 NFIA NOTCH2 NOTCH3 NRAS RAI1 RBM8A RUNX2 SETD2 SH2B1 SPARC TBX6 HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS ACP5 C1QA C1S C2 C3 C4A C8A CASP10 CFTR CTLA4 DDX41 DNASE1 DNASE1L3 FAS FASLG FCGR2A FCGR2B IGHG2 IGKC IRAK1 MASP2 PEPD PNP PRKCD PTPN22 RASGRP1 SAT1 SEMA6B SERPING1 SMPD1 SOCS1 SPP1 STAT4 TLR7 TPP2 TREX1 HP_SYSTOLIC_HEART_MURMUR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTOLIC_HEART_MURMUR ACTC1 ADAMTS19 CITED2 FOCAD GATA4 GATA6 MYH6 NKX2-5 TBX20 TLL1 TMEM260 TWIST1 HP_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYCARDIA ABCA3 ABCC8 ABCC9 ACADVL ACTC1 ACTN2 AKAP9 AMN ASXL1 BAG5 BMP2 BTNL2 CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAVIN1 CDH2 CITED2 CNBP COX7B CPOX CPT2 CRYAB CSF2RA CSF2RB CSRP3 CTNNA3 CUBN DNMT3A DSG2 DSP DST ECE1 ELP1 FBP1 FLAD1 FMO3 GATA4 GATA6 GNAI2 GPD1L GYG1 HCCS HCN4 HLA-DRB1 HMBS HNF1A HNF4A JPH2 JUP KCND3 KCNE3 KCNE5 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCTD1 KIT KYNU LAMP2 LMNA LMOD2 MAX MT-CYB MYH6 MYH7 MYL2 MYOZ2 MYRF NAA10 NAXD NDUFB11 NKX2-5 NKX2-6 NPPA NUP155 PGM1 PKP2 PLXND1 PPOX PRORP PYGM RANGRF RET RHAG RHCE RHD RYR1 RYR2 SCN10A SCN1B SCN2B SCN3B SCN5A SCN9A SCNN1A SDHB SDHC SDHD SEMA3A SFTPB SFTPC SLC12A3 SLC19A2 SLC25A20 SLMAP SPRED1 SRSF2 SRY TANGO2 TBX20 TECRL TET2 TLL1 TMEM127 TMEM43 TNNI3K TPM1 TRDN TRPM4 TSHR TTN UCP2 VHL VPS33A ZNF699 HP_TACHYPNEA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYPNEA ABCA3 ABCD4 ACADVL ACAT1 ACTA2 AHI1 ARL13B ARL3 ARMC9 ARSL ATP5F1B B9D1 B9D2 BOLA3 BTD CA5A CACNA1S CASR CBY1 CC2D2A CDKL5 CEP104 CEP120 CEP290 CEP41 COA6 COPA CPLANE1 CSF2RA CSF2RB CSPP1 FAM149B1 FARSB FBP1 GABBR2 GET3 HLCS HMGCL HYLS1 IFT74 IGHMBP2 INPP5E KATNIP KIAA0586 KIAA0753 KIF7 LRPPRC LYRM7 MECP2 MKS1 MT-CYB NEK1 NHLRC2 NKX2-1 NKX2-6 NTNG1 OFD1 OXCT1 PAM16 PCCA PCCB PDE6D PIBF1 PLXND1 RHAG RHCE RHD RPGRIP1L RYR1 SFTPB SFTPC SLC25A15 SLC34A2 SMC1A STING1 SUFU TCTN1 TCTN2 TCTN3 TLL1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS UQCRC2 ZNF423 HP_TALIPES_CALCANEOVALGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_CALCANEOVALGUS ALDH18A1 ATRX CHRNG DHCR7 ELN ERMARD FBLN5 LMX1B NEFL PLA2G6 PMP22 SPECC1L VIPAS39 VPS33B HP_TALIPES_EQUINOVALGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVALGUS ABHD16A ATAD3A B3GAT3 B4GALT7 CHST3 CLTCL1 ESCO2 FLNB GDF5 LMX1B OTUD5 PTRH2 TNNT3 HP_TALIPES_EQUINOVARUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVARUS ABHD16A ACTA1 ADAT3 ADGRG6 ALDH18A1 ALDH1A2 ALG12 ALG14 ALG3 ALG8 ALG9 AMER1 AMMECR1 ANK1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARHGAP31 ARSI ARVCF ATAD1 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 B3GAT3 B4GALT7 B9D1 BAP1 BCOR BICD2 BIN1 BLTP1 BMPER BMPR1B BRPF1 C12orf57 CACNA1C CANT1 CC2D2A CCBE1 CCDC47 CCNQ CEP55 CHD7 CHMP1A CHN1 CHRM3 CHRNG CHST14 CHST3 CILK1 CLCN3 CNTNAP1 COASY COG1 COG4 COG8 COL12A1 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ COMT COQ8A CPLX1 CREBBP CRIPT CRLF1 CTBP1 CTDP1 CTH CTNNA2 CTU2 DCHS1 DES DHCR24 DHX16 DONSON DPYS DSE DST DYM DYNC2H1 EBP ECEL1 EDEM3 EED EEF1A2 EHMT1 EIF2S3 EIF4A3 ELN ENTPD1 EP300 ERBB2 ERCC5 ERGIC1 EVC EVC2 EZH2 FANCL FAT4 FBLN5 FBN2 FBXO7 FGD4 FGFRL1 FHL1 FIBP FKBP10 FKBP14 FKTN FLNA FLNB FOXG1 FUZ GAD1 GAN GCH1 GDAP1 GDF5 GLB1 GLDN GLE1 GLI3 GNPTAB GP1BB GPC3 GPC4 GPX4 GRIA2 GSC GTPBP2 GUSB GZF1 H1-4 HACD1 HACE1 HBA1 HBA2 HIRA HK1 HNRNPK HRAS HSD17B4 HSPB1 HSPG2 HYLS1 IFIH1 IGHMBP2 IHH IL6ST IMPDH2 IPO8 IRF6 ITGA7 ITGA8 JMJD1C JPH1 KAT6B KDM5C KIDINS220 KIF1A KMT5B KY L1CAM LAMA5 LAMB2 LETM1 LGI4 LIFR LIMS2 LMBRD1 LMX1B MAFB MAN2B1 MAN2C1 MAP3K20 MAP3K7 MAPK1 MCTP2 MED13L MEGF10 MEGF8 MET MFN2 MFSD2A MPZ MSX1 MTMR2 MTRFR MTTP MUSK MYBPC1 MYH3 MYH7 MYH8 MYL11 MYL2 MYMK MYMX MYO9A MYPN MYT1L NADSYN1 NALCN NDE1 NDRG1 NECTIN1 NEDD4L NEK8 NEK9 NELFA NKAP NKX3-2 NR4A2 NSD1 NSD2 NT5C2 ORC1 ORC6 OTUD5 OTUD6B PAICS PEX1 PEX2 PEX26 PEX5 PI4KA PIEZO2 PIGB PIGG PIGL PITX1 PLEKHG5 PLK4 PLOD1 PLOD2 PLOD3 PLXND1 PMP22 POLR3A POLR3GL POLRMT POR PPP3CA PRUNE1 PSAT1 PTRH2 RAB11B RAB23 RAB3GAP2 RAI1 RBM10 RBM8A RECQL4 REEP1 REV3L RINT1 RIPK4 ROBO1 RREB1 RSPO2 RUSC2 RYR1 RYR3 SALL4 SAMD9 SATB2 SBF2 SC5D SCARF2 SCYL1 SEC24C SEC31A SELENON SETBP1 SETD2 SF3B4 SH3PXD2B SH3TC2 SHROOM4 SKI SLC25A19 SLC26A2 SLC31A1 SLC35A2 SLC35D1 SLC6A9 SMAD3 SMARCA2 SMARCAL1 SMOC1 SMS SNCA SNIP1 SNRPN SNX14 SOX9 SPEG SPTBN1 STAC3 STXBP1 SUZ12 SYNE1 SYT1 TAF1 TAF8 TAFAZZIN TBC1D23 TBX1 TBX15 TBX4 TCTN2 TCTN3 TFE3 TGDS TGFB2 TGFB3 TGFBR1 TGFBR2 TH TMCO1 TMTC3 TNNI2 TNNT3 TOR1A TP63 TPM2 TPM3 TRAIP TRIM2 TRIP11 TRPM3 TRPV4 TSPOAP1 TTN TWIST1 TWIST2 UBE2A UFD1 UNC80 USP8 VANGL1 VPS33B VRK1 VWA1 WDR73 WNT7A YME1L1 ZC4H2 ZFYVE27 ZIC3 ZNF148 ZNF699 ZSWIM6 HP_TALIPES_VALGUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_VALGUS ADGRV1 CARS1 CHMP1A DNMT3A EXT1 EXT2 GABRD GABRG2 HCN1 HNRNPH1 LIFR MAN2B1 NONO RAB3GAP2 SCN1A SCN1B SCN2A SCN9A STX1B HP_TALL_CHIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_CHIN APC2 EIF2S3 MYH8 NSD1 OPHN1 SETD2 TLK2 HP_TALL_STATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_STATURE ABAT ACTA1 ACTA2 AGGF1 AGPAT2 AIP AKT1 APC2 AR ARHGEF9 ASXL3 ATP6V1A ATP6V1E1 BSCL2 C1R CAMK2A CAV1 CAVIN1 CBS CCND1 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CHD8 CHST14 CIC CNOT1 COL1A2 COL2A1 COL6A1 COL6A2 COL6A3 CPLX1 CTBP1 CYP19A1 DICER1 DIS3L2 DLG4 DLK1 DNA2 DNMT3A DSE EED EFEMP2 EHMT1 ELN ESR1 EZH2 FAM20A FARSB FBLN5 FBN1 FBN2 FBXO11 FGF3 FGFR3 FIBP FKBP14 FOS FOXE3 GLI3 GPC3 GPC4 GPR101 GRIA3 H3-3B HECTD4 HERC1 HEY2 HNRNPK HPGD HRAS HSPG2 IGF2 IPO8 KANSL1 KBTBD13 KCNQ1 KCNQ1OT1 KIF7 KLHL41 KMT2C KRAS LARS2 LETM1 LHCGR LOX LRP4 MAN2B1 MAT2A MC2R MC4R MED12 MEG3 MEN1 MFAP5 MRAP MTM1 MYH11 MYLK MYPN NEB NELFA NF1 NFIX NKAP NNT NONO NPR2 NPR3 NRAS NSD1 NSD2 NSDHL PAFAH1B1 PDE11A PDGFRB PIGA PIGG PIGL PIK3CA PIK3R2 PLOD1 POLG POLR3A POR PPARG PRKAR1A PRKG1 PTCH1 PTEN PYROXD1 RERE RET RNF135 RTL1 SARS1 SETD2 SHANK3 SLC6A8 SMAD2 SMAD3 SMAD4 SMS SOST SRY STAR STRADA SUFU SUZ12 TCF20 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TIMM50 TNNT1 TPM2 TPM3 TRIM32 TUBB4A TXNRD2 TYMP UPF3B WRN YWHAE ZDHHC9 ZNF469 HP_TAPERED_DISTAL_PHALANGES_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_DISTAL_PHALANGES_OF_FINGER CTSC DSP NALCN SPTBN1 UNC80 HP_TAPERED_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_FINGER ACSL4 ADAMTSL1 ADNP AIP AMMECR1 ARX ASXL1 ATRX BCORL1 BRF1 CCDC88A CCNK CDC42 CDC42BPB CDKL5 CHD4 CHST14 CLP1 CNOT1 CNOT3 COL12A1 COPB1 CPT2 CRLF1 DDX6 DHX30 DLX5 DOCK3 DPH5 DPYSL5 DSE DYRK1A EBF3 ECE1 EHMT1 EIF2S3 EXOC6B EXOSC5 FBXO11 FIG4 GATA2 GATA4 GJA1 GJB3 GJB4 GNAI1 GNB1 GNB2 GPR101 H3-3A H3-3B H4C5 HDAC8 HEATR3 HECTD4 HIVEP2 HUWE1 IARS2 INPPL1 IRX5 KATNB1 KCNE5 KDM1A KDM5C KDSR KIF1A KIF7 KIFBP KMT2A KMT2C KMT2E LAS1L LMNB2 MAF MAGEL2 MAP1B MAPK1 MAPRE2 MTHFS MYMK MYOD1 NR2F1 ODC1 OTUD6B PAX1 PCGF2 PHF21A PHF6 PHIP PIGA PIGB PIGN PIGV PRIM1 PRKAR1B PRR12 PUM1 RAB11B RETREG1 RNF13 RPL10 RPS6KA3 RUNX2 RUSC2 SCARF2 SCN9A SETD1B SIM1 SLC12A6 SLC25A12 SLC25A46 SLC39A13 SMARCA2 SMARCAD1 SMC1A SNIP1 SPEN SPOP SUPT16H SVBP TCF20 TCF4 TELO2 TFE3 TNNT3 TP53RK TRAPPC9 TRIO TRPM3 UNC80 USP9X VAC14 VPS13B WASF1 WNK1 ZMIZ1 ZMYM2 ZNHIT3 HP_TAPERED_SPERM_HEAD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_SPERM_HEAD ACTL9 ARMC2 CATIP CFAP69 CFAP70 DNAH17 IQCN TTC29 HP_TARSAL_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TARSAL_SYNOSTOSIS ATP7A BMPR1B CHSY1 FBLN1 FGFR1 FGFR2 FGFR3 FLNA FLNB GDF5 GDF6 GLI3 LMBR1 MAP3K7 MKKS MYH3 NALCN NOG OFD1 POR RNU12 SMOC1 TBX4 TNNI2 TNNT3 TPM2 HP_TELANGIECTASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA ABCC6 ACTA2 ACVRL1 AKT1 ANAPC1 ANTXR2 ARL6IP6 ARPC4 ARX ATM ATR ATRX BLM BMP2 BMPR2 CAST CASZ1 CAV1 CCM2 CCN2 CCR6 CIB1 COL3A1 COL7A1 CTC1 CTNNB1 CTSA CYLD DAXX DDB2 DIAPH1 DKC1 DNAJC30 DPM1 ELMO2 ENG ENPP1 EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FERMT1 FRG1 FZD4 GABRD GDF2 GLA GNA11 GNAQ GNPTAB GPR35 HFE HLA-DRB1 HSPG2 IARS2 IKBKG IL7 IRF5 KCNAB2 KIAA0319L KIT KLLN LBR LIG1 LIG4 LMNA LMX1B LRP5 LUZP1 MASP1 MMP23B MRE11 MST1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NAGA NBN NDP NDUFS2 NEU1 NF1 NHP2 NOP10 NPM1 PARN PCNA PDPN PEPD PEX6 PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PNKP POLD1 POLE POLH PORCN PRDM16 PRKCZ PTEN RASA1 RECQL4 RERE RNF168 RNF213 RTEL1 SASH1 SDHB SDHC SDHD SEC23B SEMA4D SETD2 SETX SKI SLC29A3 SLC2A10 SLC37A4 SMAD4 SOX18 SPEN STING1 STN1 STXBP1 TALDO1 TCF4 TERC TERT TINF2 TMC6 TMC8 TREX1 TSPAN12 TYMS UBE4B USB1 USF3 UVSSA VPS53 WNT10A WRAP53 WRN XPA XPC XRCC4 ZNF408 HP_TELANGIECTASIA_OF_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA_OF_THE_SKIN ABCC6 ACVRL1 ANTXR2 ARL6IP6 ARPC4 ARX ATM ATR ATRX BLM CAST CAV1 CCN2 CCR6 CIB1 COL3A1 CTC1 CYLD DAXX DDB2 DKC1 ELMO2 ENG ENPP1 ERCC2 ERCC3 ERCC4 ERCC5 FERMT1 GDF2 GLA GNA11 GNPTAB GPR35 HLA-DRB1 IARS2 IKBKG IL7 IRF5 KIAA0319L KIT LBR LIG4 LMNA MST1 NAGA NF1 NHP2 NOP10 NPM1 PARN PCNA PIK3CA POLD1 POLE PORCN RTEL1 SDHD SEMA4D SLC29A3 SLC2A10 SLC37A4 SMAD4 SOX18 TCF4 TERC TERT TINF2 TMC6 TMC8 TYMS USB1 VPS53 WNT10A WRAP53 WRN XPA XPC XRCC4 HP_TELECANTHUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELECANTHUS ACTB ACTG1 ADAMTS18 ADAMTS2 ADAT3 ADH5 AGO1 AKT3 ALG9 ALX4 ANKH ANKLE2 ANKRD11 ARL3 ARVCF ATP6V1B2 ATRX B4GALT7 C2CD3 CCND2 CCNQ CDH11 CDH2 CDK10 CDK13 CHRNG CHST14 COL18A1 COL25A1 COL3A1 COLEC10 COLEC11 COMT CREBBP CRIPT DDB1 DDHD2 DDX3X DOCK7 DSE DVL3 EBP EDN3 EDNRB EFNB1 EFTUD2 ETFA ETFB ETFDH EXOSC1 FBN1 FGFR1 FGFR2 FLNA FLNB FOXC1 FOXL2 FOXP2 GJA1 GLI3 GNB2 GP1BB GPRASP2 GRIA1 H1-4 HDAC8 HECW2 HHAT HIRA HNRNPR HNRNPU HRAS IDH1 IFT122 IFT43 IFT52 IRX5 JMJD1C KAT8 KCNH1 KCNMA1 KCNN3 KCTD1 KDM6B KIFBP KITLG KMT2A KRAS LIG4 LMNA LMX1B MAFB MAP2K2 MAP3K7 MASP1 MID1 MITF MSL3 MUSK MYH3 MYOD1 NEK1 NFIX NOTCH2 NOTCH3 NRAS NSD2 NSUN2 OFD1 OTUD5 PAX3 PIGL PIGQ PIGU PIK3R1 PIK3R2 PITX2 PPP1R21 PQBP1 PTCH1 PTCH2 PTH1R PURA RAB23 RFX7 RNF125 RPS6KA3 RREB1 SEC24C SKI SLC26A2 SNAI2 SNX14 SOX10 SPATA5L1 SPOP STAC3 STXBP1 SUFU TAPT1 TBC1D2B TBL1XR1 TBX1 TFAP2A TLK2 TRPM3 TWIST2 TYR UBE3B UBR7 UFD1 USP9X VPS33A WDR35 XRCC4 YY1 ZBTB18 ZEB2 ZFHX4 ZMPSTE24 ZMYM2 ZNF148 ZSWIM6 HP_TEMPERATURE_INSTABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPERATURE_INSTABILITY ALG11 CDON DDC DISP1 DLL1 FCGR3B FGF8 FGFR1 FOXH1 GALC GAS1 GLI2 HERC2 LMNB1 MAGEL2 MKRN3 MYO1H NODAL NPAP1 PLA2G6 PLCH1 PSAP PTCH1 PWAR1 PWRN1 SHH SHQ1 SIX3 SLC18A2 SLC25A19 SLC31A1 SMC1A SNORD115-1 SNORD116-1 SPR STAG2 STIL TDGF1 TGIF1 VPS11 ZIC2 HP_TEMPORAL_CORTICAL_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_CORTICAL_ATROPHY ABCA7 ADARB1 BICRA CAMTA1 CHMP2B COG1 CPA6 CYB5A CYB5R3 GRM7 GRN MAPT NEK1 OPHN1 PDE6D PSEN1 RNU4ATAC SLITRK2 TMEM106B TREM2 VCP HP_TEMPORAL_OPTIC_DISC_PALLOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_OPTIC_DISC_PALLOR CYP1B1 DNM1L EFEMP1 MAG MYOC OPA1 HP_TEMPORAL_PATTERN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_PATTERN ADH1C ADORA2A ATL1 ATXN2 ATXN8OS BCKDHA BCKDHB CACNA1A DBT EIF4G1 GBA1 GLUD2 MAPT MPZ MT-TT NIPA1 NR4A2 OPA1 PMP22 PTH SMC1A SNCA SNCAIP SPAST TBP WASHC5 HP_TEMPOROMANDIBULAR_JOINT_ANKYLOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPOROMANDIBULAR_JOINT_ANKYLOSIS IDS LMNA PLCB4 SF3B4 ZMPSTE24 HP_TENDON_RUPTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_RUPTURE COL1A2 EMILIN1 HGD IFIH1 TTR HP_TENDON_XANTHOMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_XANTHOMATOSIS ABCG5 ABCG8 APOA1 APOA2 APOB APOE CETP CYP27A1 EPHX2 GHR LDLR LDLRAP1 PCSK9 PPP1R17 TTPA HP_TENTED_UPPER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENTED_UPPER_LIP_VERMILION ADAMTSL1 ALDH6A1 ANKRD11 ATRX BAP1 BRAT1 CACNA2D1 CDC42 CDON CHAMP1 CHMP1A CLCN3 CSF1R CYFIP2 DCHS1 DDB1 DEAF1 DENND5A DIS3L2 DISP1 DLK1 DLL1 DMPK DPM1 EEF1A2 FAT4 FBXO28 FGF8 FGFR1 FLII FOXG1 FOXH1 FZD2 GALNT2 GAS1 GLI2 GNAI1 GOLGA2 GPC4 H3-3A HOXB1 IER3IP1 IL1RAPL1 IQSEC2 KCNH1 KCNJ6 KCNK9 KDM4B MBD5 MECP2 MED25 MEG3 MEIS2 MESD MICU1 MSL3 MYL2 MYOD1 NALCN NCAPG2 NEXMIF NODAL NRCAM NSRP1 NXN PAX3 PGAP2 PGAP3 PIGB PIGL PIGN PIGO PIGT PIGV PIGW PIGY PLAA PPP1R21 PPP2R1A PREPL PRKACB PTCH1 PURA RAB11B RAI1 RAPSN ROR2 RSPRY1 RTL1 RYR1 SCN4A SHH SIX3 SLC25A46 SMPD4 STRADA SUFU TAF8 TBCK TCF20 TDGF1 TGFB3 TGIF1 TMEM147 TMEM237 TTC5 UFC1 UNC80 WDR4 ZIC2 ZNHIT3 HP_TERATOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TERATOMA APC2 BCL10 FGFR3 KIT MNX1 MSH3 NSD1 PDE11A PRKAR1A SETBP1 SETD2 STK11 HP_TESTICULAR_ADRENAL_REST_TUMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ADRENAL_REST_TUMOR CYP11B1 MC2R MRAP NNT PDE11A PRKAR1A STAR TXNRD2 HP_TESTICULAR_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ATROPHY ANOS1 AR BMP2 BMP6 DMPK FGD1 FSHB HFE HPRT1 NHP2 POLG SMS TEX11 TP53 WFS1 HP_TESTICULAR_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_DYSGENESIS ARX CBX2 DHH DHX37 DMRT1 GATA4 MAP3K1 NR0B1 NR5A1 SOX9 SRY TSPYL1 WT1 HP_TETANY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETANY ARVCF CASR CLDN16 COMT CYP27B1 CYP2R1 GATA3 GP1BB HIRA JMJD1C KCNJ1 PTH RRAGD RREB1 SEC24C SLC12A1 SLC12A3 TBCE TBX1 TCIRG1 TRPM6 UFD1 HP_TETRALOGY_OF_FALLOT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRALOGY_OF_FALLOT ALX1 ALX3 ARHGAP31 ARID1A ARID1B ARID2 ARVCF BAZ1B BCL7B BICRA BRAF BRCA1 BRCA2 BRIP1 BUD23 CACNA1C CASZ1 CCDC22 CDK8 CDON CHD4 CHD7 CHRM3 CHUK CITED2 CLIP2 COMT COX7B CXCR2 CXCR4 DACT1 DDX11 DDX3X DDX59 DGCR2 DGCR6 DGCR8 DISP1 DLL1 DLL4 DNAJC30 DOCK6 DPF2 DPYSL5 EHMT1 EIF4H ELN EOGT ERCC4 ESS2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF8 FGFR1 FIG4 FKBP6 FLT4 FOXC2 FOXF1 FOXH1 GABRD GAS1 GATA1 GATA4 GATA5 GATA6 GDF1 GJA5 GLI2 GNPAT GP1BB GTF2I GTF2IRD1 GTF2IRD2 HIBCH HIRA HSPG2 INTU JAG1 JMJD1C KCNAB2 KDR LIMK1 LUZP1 MAD2L2 MAPKAPK5 METTL27 MKKS MLXIPL MMP23B MYRF NCF1 NIPA1 NIPA2 NKX2-5 NKX2-6 NODAL NOTCH1 NOTCH2 NR2F2 NXN PAH PALB2 PDPN PIGL PIGN PLXND1 PQBP1 PRDM16 PRKCZ PTCH1 PUF60 RAB23 RAD21 RAD51 RAD51C RBM10 RBM8A RBPJ RERE RFC2 RFWD3 RNU4ATAC ROBO1 ROR2 RPL11 RPL5 RRAS2 RREB1 SALL1 SALL4 SEC24C SEMA3E SF3B2 SF3B4 SHH SIX3 SKI SKIC2 SKIC3 SLC35A2 SLC37A4 SLX4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SPECC1L SPEN SRCAP STRA6 STX1A SUFU TAB2 TBL2 TBX1 TDGF1 TGIF1 TMEM260 TMEM270 TMEM94 TUBG1 UBE2A UBE2T UBE4B UFD1 VAC14 VPS35L VPS37D WASHC5 WT1 XRCC2 ZEB2 ZFPM2 ZIC2 HP_TETRAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPARESIS AASS ABCD1 ADAR AFF3 AGTPBP1 AIFM1 ALG3 ALS2 APOE ARFGEF2 ARX ATP1A2 ATP1A3 ATP5F1A ATP6V1A AUH BSCL2 C9orf72 CA2 CACNA1A CARS2 CHCHD10 COA8 COL4A1 DYM EARS2 EIF2S3 ERLIN2 EXOSC8 FA2H FAR1 FBLN1 FUS GAD1 GALC GBE1 GJA1 GM2A GSS GUF1 HINT1 HSD17B10 IFIH1 KCNJ6 KCNQ2 L2HGDH LIMS2 LIPT1 LIPT2 LMNB1 LMX1B LRP4 LYRM7 MFSD2A MOCS1 MRM2 MT-ATP6 NAXE NDUFS3 NEK1 NEXMIF NFU1 NMNAT1 NUP54 NUP62 PAFAH1B1 PDHX PHACTR1 PLA2G6 PLP1 PNP POLG POLR3K PPOX PRDM8 PRPS1 PRUNE1 PSAP PSAT1 PSEN1 REEP1 RERE RNU7-1 SARDH SDHA SDHAF1 SDHB SDHD SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC25A10 SLC35A2 SMC1A SOD1 SOX4 SQSTM1 STAMBP STXBP1 TACO1 TARDBP TBCE TBK1 TMEM222 TNFRSF11A TNR TRAPPC4 TUBB2B UCHL1 UGP2 VCP WDR62 HP_TETRAPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA AIFM1 ALDH18A1 ALS2 ARSA ARX ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATPAF1 ATPAF2 BCAP31 BCAS3 BUB1B CACNA1S DOLK DPYD FGFR1 GABRA3 GALC IFIH1 KCNJ18 KCNT1 KRAS MC2R MRAP MT-ATP6 MT-ATP8 NADK2 NDUFA8 NHLRC2 NNT PAFAH1B1 PNKP PRF1 PRPS1 RANBP2 STAR TBCD TFG TRAPPC2L TXNRD2 HP_TETRAPLEGIA_TETRAPARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA_TETRAPARESIS AASS ABCD1 ADAR AFF3 AGTPBP1 AIFM1 ALDH18A1 ALG3 ALS2 APOE ARFGEF2 ARSA ARX ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V1A ATPAF1 ATPAF2 AUH BCAP31 BCAS3 BSCL2 BUB1B C9orf72 CA2 CACNA1A CACNA1S CARS2 CHCHD10 COA8 COL4A1 DOLK DPYD DYM EARS2 EIF2S3 ERLIN2 EXOSC8 FA2H FAR1 FBLN1 FGFR1 FUS GABRA3 GAD1 GALC GBE1 GJA1 GM2A GSS GUF1 HINT1 HSD17B10 IFIH1 KCNJ18 KCNJ6 KCNQ2 KCNT1 KRAS L2HGDH LIMS2 LIPT1 LIPT2 LMNB1 LMX1B LRP4 LYRM7 MC2R MFSD2A MOCS1 MRAP MRM2 MT-ATP6 MT-ATP8 NADK2 NAXE NDUFA8 NDUFS3 NEK1 NEXMIF NFU1 NHLRC2 NMNAT1 NNT NUP54 NUP62 PAFAH1B1 PDHX PHACTR1 PLA2G6 PLP1 PNKP PNP POLG POLR3K PPOX PRDM8 PRF1 PRPS1 PRUNE1 PSAP PSAT1 PSEN1 RANBP2 REEP1 RERE RNU7-1 SARDH SDHA SDHAF1 SDHB SDHD SELENOI SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC25A10 SLC35A2 SMC1A SOD1 SOX4 SQSTM1 STAMBP STAR STXBP1 TACO1 TARDBP TBCD TBCE TBK1 TFG TMEM222 TNFRSF11A TNR TRAPPC2L TRAPPC4 TUBB2B TXNRD2 UCHL1 UGP2 VCP WDR62 HP_THENAR_MUSCLE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THENAR_MUSCLE_ATROPHY BSCL2 COMP GARS1 GBF1 IDUA ITPR3 NEB PDK3 PLOD3 PMP22 REEP1 SLC39A13 SLC5A6 SPG11 HP_THENAR_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THENAR_MUSCLE_WEAKNESS BSCL2 FLNC GARS1 PMP22 REEP1 HP_THICKENED_CALVARIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CALVARIA AGA AMER1 AP1S2 CA2 CDH11 COL11A1 DVL1 DYM ERCC6 ERCC8 FLNA GLB1 GNAS GNPTAB HPGD IFIH1 LRP4 LRP5 MAN2B1 NONO NOTCH3 PDE4D PHF6 PLEKHM1 POLR3A PTDSS1 PTH1R RPS6KA3 RUNX2 SFRP4 SGMS2 SLC17A5 SMAD4 SMS SNX14 TMEM53 TMEM67 TNFRSF11B HP_THICKENED_CORTEX_OF_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CORTEX_OF_BONES ANO5 COL1A1 FAM111A IL6ST LIFR LRP5 MAN2B1 NF1 SETBP1 SOST TBCE TGFB1 TRIM37 HP_THICKENED_EARS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_EARS ABCC8 AFF4 ALMS1 ATP6V1B2 KCNH1 KCNJ11 KCNMA1 KCNN3 NARS2 PIGY PTCH1 TAF1 HP_THICKENED_GLOMERULAR_BASEMENT_MEMBRANE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_GLOMERULAR_BASEMENT_MEMBRANE CD151 CEP83 CFH COL4A3 COL4A4 COL4A5 DGKE GATA3 LMX1B NOS1AP RNU7-1 HP_THICKENED_HELICES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_HELICES ADAMTSL2 AFF4 BMP2 BRAF CBL CDH2 DDX3X DIS3L2 DYRK1A EDEM3 FBN1 FGFR2 GDF11 H4C5 KRAS LZTR1 MAP2K1 MAP2K2 MRAS NRAS PBX1 PGAP2 PGAP3 PIGL PIGO PIGS PIGV PIGW PIGY PPP1CB PTPN11 RAF1 RASA2 RB1 RIT1 RRAS RRAS2 SIN3A SMS SOS1 SOS2 SPOP SPRED2 SUPT16H TAF1 TCF4 XYLT2 HP_THICKENED_NUCHAL_SKIN_FOLD https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_NUCHAL_SKIN_FOLD ABCC6 ALG9 ATP6V1B2 CBL CHMP2B EBP EFNB1 ENPP1 FOXF1 GATA1 GRN HNRNPK HRAS KRAS LAMA5 LRPPRC LZTR1 MAPT MRAS NRAS PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGN PSAT1 PSEN1 PTPN11 RAF1 RASA2 RIT1 RNU4ATAC RRAS RRAS2 SLC26A2 SLC31A1 SLC35A2 SOS1 SOS2 SPRED2 SQSTM1 TBC1D24 TMEM106B TRAF7 TREM2 TRIP11 VCP HP_THICKENED_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_RIBS GLB1 GNS HGSNAT IDS MAN2B1 NAGLU SGSH SOST HP_THICKENED_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_SKIN AAAS AAGAB AARS1 ABCA12 ABCC8 ABCC9 ABHD5 ACTC1 ACTN2 ADA ADAM10 ADAMTS10 ADAMTS2 ADAMTSL2 AFF4 AGPAT2 AHSG AIP AKT1 AKT2 ALDH3A2 ALMS1 ALOX12B ALOXE3 ANAPC1 ANGPT2 ANKRD1 ANOS1 ANTXR2 AP1B1 AP1S1 APPL1 AQP5 ARSB ARSL ASPRV1 ATL1 ATL3 ATP2A2 ATP2C1 ATP7A BAG3 BAG5 BLK BRAF BSCL2 BUB1 CAP2 CARD14 CARMIL2 CARS1 CAST CAV1 CAVIN1 CCDC141 CD28 CDH3 CDSN CEL CERS3 CFTR CHD7 CHD8 CHKB CIDEC CLCNKB CLDN1 CLEC7A COG6 COL12A1 COL14A1 COL17A1 COL1A1 COL4A5 COL6A1 COL6A2 COL6A3 COL7A1 COPB1 CRYAB CSRP3 CST6 CSTA CTC1 CTLA4 CTSC CUL4B CWC27 CYP19A1 CYP4F22 DCC DCLRE1C DDB2 DDR2 DES DIP2B DKC1 DMD DNAJC21 DOLK DPAGT1 DPP9 DSC2 DSC3 DSG1 DSG2 DSG4 DSP DST DUSP6 EBP ECM1 EFL1 ELMO2 ELOVL1 ELOVL4 EMD ENPP1 EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERF ERMARD ESR1 EXPH5 FBN1 FDPS FERMT1 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FHL1 FHL2 FIG4 FITM2 FKBP14 FKTN FLG FLG2 FLRT3 FLT4 FOS FOXG1 FUCA1 GATA1 GATAD1 GBA1 GCK GINS1 GJA1 GJB2 GJB3 GJB4 GJB6 GJC2 GLA GLB1 GLS GMPPA GNB2 GNPTAB GPR101 GRHL2 GTF2E2 GTF2H5 HAND2 HDAC6 HESX1 HLA-B HLA-DRA HNF1A HNF4A HPGD HRAS HS6ST1 HSD11B1 IDUA IGHG2 IGKC IKBKG IL17F IL17RA IL17RC IL17RD IL1RN IL2RB IL2RG IL36RN IL7R INS INSR ITGB4 ITGB6 JARID2 JPH2 JUP KANK2 KANSL1 KCNJ11 KCTD1 KDF1 KDSR KIF11 KIT KITLG KLF11 KLHL24 KLLN KRAS KRT1 KRT10 KRT13 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT74 KRT81 KRT83 KRT86 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LARP7 LBR LDB3 LDHA LEMD3 LIG4 LIPE LIPN LMNA LMOD2 LORICRIN LRP1 LSS LTBP2 LTBP3 LTV1 LZTR1 MAD1L1 MAP2K1 MAP2K2 MAPRE2 MARS1 MBTPS2 MC4R MCOLN1 MDFIC MMP1 MMP2 MPDU1 MPLKIP MSMO1 MT-TS1 MTX2 MVD MVK MYBPC3 MYH6 MYH7 MYPN NAGA NDNF NECTIN1 NECTIN4 NEK9 NEU1 NEUROD1 NEXN NF1 NHP2 NIPAL4 NLRP1 NLRP3 NOD2 NOP10 NOTCH2 NPM1 NRAS NSDHL NSMCE2 ORAI1 PAH PARN PAX4 PCSK1 PDGFB PDGFRB PDX1 PEPD PERP PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHGDH PHYH PI4KA PIEZO1 PIGA PIGL PIK3CA PKDCC PKP1 PLEC PLIN1 PLN PLOD1 PMVK PNPLA1 PNPLA2 POFUT1 POGLUT1 POLA1 POLR3A POMC POMP PPARG PPCS PPOX PRDM16 PROK2 PROKR2 PSAT1 PSEN1 PSEN2 PSENEN PSMB4 PSMB8 PSMB9 PTEN RAF1 RAG1 RAG2 RBM20 RBP4 RECQL4 RHBDF2 RIGI RIN2 RIT1 RMRP RNF113A RNU12 RNU4ATAC RPL3L RSPO1 RTEL1 RYR1 SASH1 SBDS SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEMA3A SERPINA12 SERPINB7 SERPINB8 SGCD SGPL1 SH3PXD2B SHOC2 SLC12A3 SLC17A9 SLC27A4 SLC29A3 SLC45A2 SLCO2A1 SLURP1 SMAD4 SMARCA2 SMARCAD1 SMARCD2 SNAP29 SOX10 SOX18 SPINK5 SPRY4 SPTLC1 SPTLC2 SRD5A3 SREBF1 SRP54 ST14 STIM1 STS SULT2B1 SUMF1 SUPT16H SYNE1 SYNE2 TACR3 TAF1A TAFAZZIN TARS1 TAT TCAP TERC TERT TFE3 TGM1 TGM5 TINF2 TMEM43 TMPO TMPRSS6 TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAF3IP2 TRAPPC11 TRIP4 TRPM4 TRPV3 TTC7A TTN TUBB TXNRD2 TYMS TYR UROD UROS USB1 USF3 VCL VEGFC VEZF1 VIPAS39 VPS33A VPS33B WDR11 WNT10A WRAP53 WRN XPA XPC XRCC4 ZC4H2 ZMPSTE24 ZNF750 HP_THICK_CEREBRAL_CORTEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CEREBRAL_CORTEX APC2 ATP6V0A2 ATP6V1A ATP6V1E1 CPLX1 NIPA1 NIPA2 PAFAH1B1 RELN TBC1D24 TUBG1 HP_THICK_CORPUS_CALLOSUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CORPUS_CALLOSUM ATP1A2 ATP1A3 C12orf57 CAMK2A CCND2 CNOT3 HERC1 KDM3B MAST1 NONO ODC1 PIK3R2 PRMT7 SZT2 TBC1D7 TUBG1 VPS13B HP_THICK_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_EYEBROW ABCA5 ABCC9 ACER3 AFF4 AIFM1 ANKRD11 ARID1A ARID1B ARID2 ASXL3 ATP6V1B2 AUTS2 B3GAT3 BCAS3 BCOR BICRA BPTF BRD4 CCDC8 CDH11 CDK13 CDON CHD1 CHMP1A CHST3 CLCN3 CNOT2 COL1A2 CPLX1 CREBBP CTCF CUL7 CWF19L1 DDB1 DENND5A DNMT3A DOCK7 DPF2 EBF3 EP300 ERLIN2 EXT1 FBXL4 FBXO31 FHL1 FOXL2 FREM1 FRMD4A FUCA1 GNB2 GNS GPRASP2 GUSB H4C5 HDAC8 HECW2 HMGA2 IARS2 IDUA IGF1R JARID2 KCNH1 KCNJ8 KCNK4 KCNMA1 KCNN3 KDM5C KIFBP KMT2A KMT2C KNL1 LAS1L LEMD3 MAGEL2 MAN2B1 MAP3K7 MAPK8IP3 MBD5 MEF2C MGAT2 MN1 MTHFS NBAS NFIX NIPBL NOTCH2 NRCAM NSUN2 OBSL1 PAX3 PDCD6IP PHF6 PHIP PPP1R21 PRKG2 PRR12 PSMC1 PSMD12 PUF60 RAD21 RALGAPA1 RBM10 RET RHOBTB2 RNF125 RPS23 RPS6KA3 RUSC2 SATB1 SETD1B SHANK3 SIM1 SLC25A24 SLC35A2 SLC6A17 SLC9A6 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SOX11 SOX4 SOX6 SPECC1L SPEN SPTBN1 SUMF1 TAF1 TAF6 TASP1 TBCK TBL1XR1 TFAP2B TMCO1 TP63 TRIO TRPS1 TUBGCP2 UBR7 VPS13B WAC WNT4 ZSWIM6 HP_THICK_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_HAIR AFF4 ASXL1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A CLDN1 COG4 INSR KCNH1 KCNK4 KCNN3 KMT2A MSTO1 NDUFAF6 NEK1 RUSC2 SMC3 VPS13B VPS33A HP_THICK_LOWER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_LOWER_LIP_VERMILION ABCC9 ACER3 ADNP AFF3 AGA AIP AMER1 ANTXR1 AP2M1 ARID1A ARID1B ARID2 ATP6V1B2 ATRX B9D1 BAZ1B BCL7B BUD23 CA2 CAMTA1 CBL CDH11 CDKL5 CDT1 CHD2 CLIP2 COL11A1 CUL4B CUL7 DEAF1 DNAJC30 DPF2 DYRK1A EBF3 ECM1 EHMT1 EIF4H ELN FBN1 FKBP6 FLNA FRMD4A FTSJ1 FUCA1 GJA5 GJA8 GLA GNAI1 GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HECW2 HRAS HUWE1 IDS INSR KAT5 KCNN3 KIF11 KIF15 KMT2C KRAS LIMK1 LTBP1 LTBP3 LZTR1 MED12 METTL27 MLXIPL MRAS NAGA NANS NCF1 NEU1 NEXMIF NRAS PHGDH PIGL POU4F1 PPP1CB PSMB8 PTH1R PTPN11 PUS7 RAF1 RASA2 RBMX RET RFC2 RHOBTB2 RIT1 RNF135 RPS23 RPS6KA3 RRAS RRAS2 SCN1A SETD1B SHOC2 SIN3A SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC5 SMG9 SMS SOS1 SOS2 SOX11 SOX4 SPRED2 STRADA STX1A SYNGAP1 TASP1 TBC1D24 TBL2 TMEM147 TMEM270 TMEM53 UGDH VPS37D YY1 ZBTB20 ZEB2 HP_THICK_NASAL_ALAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_NASAL_ALAE ABCA5 AKT1 ANKRD17 ANTXR1 AP2M1 ARID1A ARID1B ARID2 ARSL CCNK CHD2 DPF2 EXT1 H4C5 KANSL1 KCNH1 MED12 NEXMIF NF1 PIK3C2A PTEN RAD21 RHOA RPS6KA3 SCN1A SCNM1 SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SYNGAP1 TRPS1 ZSWIM6 HP_THICK_UPPER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_UPPER_LIP_VERMILION ABCC9 APC BRCA1 CDK13 CILK1 COL11A1 DENND5A EBF3 GPC4 KDM4B MINPP1 NAA10 NAA20 NOG NSUN2 PAK3 RPS7 SC5D SPATA5L1 STRADA THOC6 TMEM53 TOE1 TWIST2 VPS51 WDR26 HP_THICK_VERMILION_BORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_VERMILION_BORDER ABCC9 ACER3 ACSL4 ADAM22 ADAMTS2 ADAT3 ADNP AFF2 AFF3 AGA AIMP2 AIP AMER1 AMMECR1 ANKRD11 ANTXR1 AP1S2 AP2M1 AP4S1 APC ARID1A ARID1B ARID2 ATP6V1B2 ATRX AUTS2 B9D1 BAZ1B BCAS3 BCL7B BRAF BRCA1 BUD23 CA2 CACNA1I CAMTA1 CBL CCDC47 CCDC8 CDC45 CDC6 CDH11 CDK13 CDKL5 CDT1 CHD2 CILK1 CIT CLIP2 CNTNAP1 COG6 COG7 COL11A1 CUL4B CUL7 CWC27 DEAF1 DENND5A DLK1 DNAJC30 DOCK7 DPF2 DPYSL5 DYRK1A EBF3 ECM1 EDA EDAR EDARADD EDEM3 EHMT1 EIF2S3 EIF4H ELN EPG5 ERF ERMARD EXOSC1 EXOSC5 FBN1 FBXO31 FHL1 FIBP FKBP6 FLNA FOXP1 FRA10AC1 FRMD4A FTSJ1 FUCA1 GALNT2 GJA5 GJA8 GLA GMNN GNAI1 GNS GPC3 GPC4 GPR101 GRIA1 GRIA3 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HDAC4 HECTD4 HECW2 HNRNPH2 HRAS HUWE1 IDS IDUA IFT52 INSR JARID2 KAT5 KAT8 KCNE5 KCNH1 KCNJ8 KCNK9 KCNN3 KDF1 KDM4B KDM6B KIF11 KIF15 KIF7 KIFBP KMT2C KRAS KREMEN1 LARP7 LIMK1 LTBP1 LTBP3 LZTR1 MADD MAN1B1 MCM5 MED12 MEG3 METTL27 MINPP1 MLXIPL MOCS1 MOCS2 MRAS MYCN NAA10 NAA20 NAGA NANS NCF1 NEU1 NEXMIF NF1 NFIX NOG NONO NRAS NSUN2 OBSL1 OFD1 OGT ORC1 ORC4 ORC6 P4HTM PAK3 PCDHGC4 PHGDH PIDD1 PIGL POU4F1 PPP1CB PPP1R21 PPP3CA PRIM1 PSMB8 PTDSS1 PTH1R PTPN11 PUS7 RAF1 RASA2 RBL2 RBMX RET RFC2 RHOBTB2 RIN2 RIT1 RNF135 RNF2 RNU12 RNU4ATAC RPS23 RPS6KA3 RPS7 RRAS RRAS2 RSPRY1 RTL1 SC5D SCN1A SCUBE3 SEC31A SET SETBP1 SETD1B SH3PXD2B SHOC2 SIN3A SLC2A1 SLC35A2 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC5 SMG8 SMG9 SMS SNX14 SOS1 SOS2 SOX11 SOX18 SOX4 SPATA5L1 SPEN SPRED2 SPTBN1 SRD5A3 STAG2 STRADA STX1A SUPT16H SYNGAP1 TASP1 TBC1D24 TBCK TBL2 TCF4 TFAP2B TFE3 THOC6 TMEM147 TMEM270 TMEM53 TOE1 TRAF6 TRIO TSPEAR TWIST2 UGDH USP9X VPS33A VPS37D VPS51 WDR26 XYLT1 YY1 ZBTB20 ZEB2 ZMYM2 ZNF699 HP_THINNING_OF_DESCEMET_MEMBRANE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THINNING_OF_DESCEMET_MEMBRANE CYP1B1 FOXC1 FOXE3 OVOL2 PAX6 PITX2 HP_THIN_BONY_CORTEX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_BONY_CORTEX ADAMTS10 AKT1 CCDC134 CLCN5 CYP27B1 CYP2R1 FARSB FBN1 GLB1 MMP2 PRKG2 PTH1R SERPINH1 SFRP4 SLC34A3 SMS TENT5A TMEM53 TNFRSF11A VDR XYLT2 HP_THIN_CLAVICLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_CLAVICLES COL11A1 HHAT LMNA PCNT TBCE ZMPSTE24 HP_THIN_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_EYEBROW AASS AEBP1 ASXL3 ATP1A2 ATP1A3 BCL11B CACNA1A CCNK CDC45 DHX30 EPS8L3 KAT6A KDM4B KREMEN1 MBTPS2 PEX1 PEX6 RBL2 RNU4ATAC SLC1A3 STAG1 TGDS TRPS1 UBE3B HP_THIN_LOWER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_LOWER_LIP_VERMILION HS2ST1 KNSTRN PIGN PIK3CD THOC6 HP_THIN_NAIL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_NAIL ALOX12B ALOXE3 ANAPC1 CAMK2B EED EZH2 HRAS IFT122 MBTPS2 MSX1 NSD1 RNU12 SUZ12 TRPS1 WNT10A HP_THIN_RIBS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_RIBS ACTA1 AIFM1 BANF1 BIN1 CCDC8 CHRNA1 CHRND CHRNG COL11A1 COL1A1 COL1A2 COL2A1 CUL7 DNM2 EXOC6B FAM111A HDAC6 KLHL40 KLHL41 LAMA5 LIFR LMNA LMOD3 MAMLD1 MTM1 MTMR14 MTX2 MUSK MYF6 NEB OBSL1 ORC1 P3H1 PDGFRB PLOD1 POLR3A PPP3CA RTTN RYR1 SCARF2 SCN4A SEC24D SERPINH1 SKI SOX9 TBCE TENT5A TRPV6 USP18 WNT1 ZMPSTE24 HP_THIN_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_SKIN ABL1 ADAMTS2 ADAMTSL2 ADNP AIP ALDH18A1 ARF1 ARFGEF2 ATRX B3GALT6 B4GALT7 BRAF C1R CAV1 CDH23 CHUK COL1A1 COL1A2 COL3A1 COL7A1 CTC1 DDB2 DDR2 DHX30 EDA EDAR EDARADD ERCC2 ERCC3 ERCC4 ERCC5 ERMARD FLNA FMR1 GNAS GORAB IFT140 IPO8 KDF1 KRT2 LIFR LMNA MAP1B MTAP NEDD4L NFIX NR3C1 ORC1 PDE11A PDGFRB PEPD PIK3R1 PLOD1 POLR3A PORCN PPARG PPP1CB PRKAR1A PRKD1 PROC PROS1 PTDSS1 PYCR1 RBCK1 RECQL SATB2 SLC2A10 SLC39A13 SMARCAD1 SOX18 TGFBR1 TGFBR2 TMTC3 TNXB TP53 TP63 TRAF6 TWIST2 UBE3B USP48 USP8 WNT10A XPA XPC ZMPSTE24 HP_THIN_UPPER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_UPPER_LIP_VERMILION AARS1 ABCC9 ACTB ACTG1 ADARB1 ADGRG6 ADNP ADSL AFF3 AFF4 AGL AGO1 AGO2 AGR2 ALG12 ALG9 AMMECR1 ANKLE2 ANKRD11 ANKRD17 AP2M1 AP3B1 ARHGEF2 ARID1A ARID1B ARID2 ARX ASPM ASXL2 ASXL3 ATIC ATN1 ATP6V1B2 ATP9A ATRX B3GLCT B4GALT1 BCL11A BCL11B BCR BMP2 BPTF BUB1 CACNA1C CCNK CCNQ CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CHAMP1 CHD2 CHST14 CIT CLCN3 CLCN6 CLP1 CLTC CNOT2 COG1 COPB2 CPLX1 CREBBP CRKL CSNK2A1 CTCF CTNNB1 CUX1 DCPS DDB1 DDX59 DHPS DPF2 DPM2 DSE DVL1 DYRK1A EBF3 EDEM3 EIF5A EP300 EXOC2 EXOSC2 EXT1 FAR1 FBN1 FIG4 FOXG1 GAD1 GATAD2B GJA5 GJA8 GLIS3 GNAI1 GNB2 GNE H4C5 HDAC8 HERC2 HIVEP2 HK1 HS2ST1 HUWE1 IFIH1 IFT43 IGF1R IRF6 IRX5 KAT6A KAT6B KATNB1 KCNJ2 KCNJ5 KCNK4 KCNMA1 KDM1A KDM3B KDM5C KIF11 KIF14 KIF15 KMT2A KMT2D KNL1 LAS1L LMBRD1 MAF MAGEL2 MAN1B1 MAPK1 MAPK8IP3 MAPRE2 MBD5 MCM7 MCPH1 MCTP2 MED12 MED12L MED13 MEF2C MEIS2 METTL5 MFSD2A MID1 MKRN3 MKS1 MPC1 MTOR MYMX MYO18B NAA10 NALCN NCAPD3 NDN NEXMIF NFIA NIPBL NOG NONO NPAP1 NUP37 OCA2 OCRL ODC1 OGT OPHN1 OTUD6B PACS1 PACS2 PAK3 PBX1 PCGF2 PDE4D PDGFRB PGAP3 PGM2L1 PHC1 PIEZO2 PIGG PIGK PIGN PIGQ PIGU PIGV PITX2 PLPBP PMM2 POGZ POLR3A PPM1D PPP1CB PPP1R15B PPP2R5D PQBP1 PRKAR1B PRKDC PSMD12 PTRH2 PUF60 PURA PWAR1 PWRN1 PYCR2 QRICH1 RAD21 RAI1 RALA RFX7 RHOBTB2 RNF135 RNU4ATAC ROR2 RPL10 SARS1 SASS6 SATB2 SCN1A SEC23A SETBP1 SETD5 SH3PXD2B SHMT2 SIM1 SIN3A SLC25A24 SLC26A2 SLC2A1 SLC6A1 SLC9A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SNORD115-1 SNORD116-1 SNRPN SOX11 SOX4 SPECC1L SPEN SPTBN1 SRCAP STAG2 STEEP1 STIL STT3A SYNGAP1 SYT1 TAF1 TAF13 TAF6 TASP1 TBC1D24 TBCE TBL1XR1 TCF20 THUMPD1 TLK2 TMEM147 TMEM94 TNRC6B TPR TRAPPC10 TRAPPC14 TRAPPC9 TRIO TRIP12 TRMT10A TRPS1 TRRAP TTC5 TUBGCP2 UBE3B UNC80 USP9X VPS35L VPS51 WAC WARS1 WARS2 WASHC4 WDR19 WDR62 WNT5A ZBTB18 ZNF292 ZNF407 ZNF526 HP_THIN_VERMILION_BORDER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_VERMILION_BORDER AARS1 ABCC9 ABL1 ACSL4 ACTB ACTG1 ADARB1 ADGRG6 ADNP ADSL AFF3 AFF4 AGL AGO1 AGO2 AGR2 ALG1 ALG12 ALG9 AMMECR1 ANKLE2 ANKRD11 ANKRD17 AP2M1 AP3B1 ARHGEF2 ARID1A ARID1B ARID2 ARX ASPM ASXL2 ASXL3 ATIC ATN1 ATP6V1B2 ATP9A ATRX B3GLCT B4GALT1 BANF1 BCL11A BCL11B BCR BMP1 BMP2 BPTF BRAT1 BRD4 BUB1 CACNA1C CAMTA1 CCNK CCNQ CD96 CDC42 CDC42BPB CDH11 CDH2 CDK10 CDK13 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CHAMP1 CHD2 CHST14 CIT CITED2 CKAP2L CLCN3 CLCN6 CLP1 CLTC CNOT2 COG1 COL3A1 COPB2 CPLX1 CREBBP CRKL CSNK2A1 CTCF CTNNB1 CUX1 DCPS DDB1 DDRGK1 DDX59 DHPS DNMT3A DPF2 DPM2 DSE DVL1 DYNC2LI1 DYRK1A EBF3 EDEM3 EIF5A EP300 ERCC6 EVC EVC2 EXOC2 EXOSC2 EXT1 FAR1 FBN1 FIG4 FLT4 FMR1 FOXG1 FTO GAD1 GATA4 GATA5 GATA6 GATAD2B GDF1 GJA1 GJA5 GJA8 GLI1 GLIS3 GLUL GNAI1 GNB2 GNE GRB10 H4C5 HDAC4 HDAC8 HERC2 HIVEP2 HK1 HMGA2 HNRNPU HS2ST1 HS6ST2 HUWE1 IARS2 IDH1 IFIH1 IFT43 IGF1R IRF6 IRX5 JAG1 KAT6A KAT6B KATNB1 KCNE5 KCNJ2 KCNJ5 KCNK4 KCNMA1 KDM1A KDM3B KDM5B KDM5C KDR KIF11 KIF14 KIF15 KIF7 KMT2A KMT2D KNL1 KNSTRN LAS1L LEMD3 LIFR LIG4 LMBRD1 LMNA LMX1B MAF MAGEL2 MAN1B1 MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MBD5 MCM7 MCPH1 MCTP2 MED12 MED12L MED13 MEF2C MEIS2 METTL23 METTL5 MFSD2A MGAT2 MID1 MKRN3 MKS1 MPC1 MPDU1 MTOR MYL11 MYMK MYMX MYO18B NAA10 NALCN NBAS NCAPD3 NDN NDP NEXMIF NF1 NFIA NIPBL NKX2-5 NKX2-6 NOG NONO NOTCH2 NPAP1 NSD2 NUP37 OCA2 OCRL ODC1 OGT OPHN1 OTUD6B PACS1 PACS2 PAK3 PBX1 PCGF2 PDE4D PDGFRB PGAP3 PGM2L1 PHC1 PHIP PIEZO2 PIGG PIGK PIGN PIGQ PIGU PIGV PIK3CD PITX2 PLPBP PMM2 POGZ POLR3A PPM1D PPP1CB PPP1R15B PPP2R3C PPP2R5D PQBP1 PRKACA PRKACB PRKAR1B PRKDC PRMT7 PRORP PSMD12 PTRH2 PUF60 PURA PWAR1 PWRN1 PYCR1 PYCR2 QRICH1 RAB3GAP1 RAD21 RAI1 RALA RECQL RECQL4 RFX7 RHOBTB2 RNF135 RNU4ATAC ROR2 RPL10 RPS23 RUNX2 SARS1 SASS6 SATB2 SC5D SCN1A SCYL2 SEC23A SETBP1 SETD5 SH3PXD2B SHMT2 SHOC2 SIM1 SIN3A SLC25A24 SLC26A2 SLC2A1 SLC45A1 SLC6A1 SLC9A7 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SMPD4 SNORD115-1 SNORD116-1 SNRPN SON SOX11 SOX4 SPECC1L SPEN SPOP SPTBN1 SRCAP STAG2 STEEP1 STIL STT3A STXBP1 SYNGAP1 SYT1 TAF1 TAF13 TAF6 TALDO1 TASP1 TBC1D24 TBCE TBL1XR1 TBX1 TCF20 THOC6 THUMPD1 TLK2 TMEM147 TMEM94 TNRC6B TPR TRAPPC10 TRAPPC14 TRAPPC9 TRIO TRIP12 TRMT10A TRPS1 TRRAP TTC5 TTI2 TUBGCP2 TWIST2 TXNL4A UBE2A UBE3B UNC80 USP9X VAC14 VPS35L VPS51 WAC WARS1 WARS2 WASHC4 WDR19 WDR62 WNT5A XRCC4 XYLT2 ZBTB18 ZFPM2 ZMPSTE24 ZNF292 ZNF407 ZNF526 HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK DEF6 DES GRIN1 LMNA MT-ATP8 MT-TL1 MYL4 PRKG2 PTPN11 RRM2B SCN5A HP_THIRD_TRIMESTER_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_TRIMESTER_ONSET ADCY6 ADGRG6 ALG1 ALPK3 ASNS BICD2 CNTNAP1 COASY CRLS1 FANCB FZR1 GINS1 GLDN KMT2B KMT2D MDFIC MPDZ MRPS22 NADK2 NDUFB11 NUP155 PLG POMK PPP3CA PRKAG2 PYCR1 RECQL4 RPL26 SCN4A SDHA SERPINH1 SHQ1 SNAP25 SOX18 TNFRSF11A TRPV6 UBR1 ZIC3 ZMPSTE24 HP_THORACIC_AORTA_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTA_CALCIFICATION GATA5 IFIH1 NKX2-5 NOTCH1 SMAD6 HP_THORACIC_AORTIC_ANEURYSM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTIC_ANEURYSM ABL1 ACTA2 ADAMTS19 AEBP1 AFF4 ALDH1A2 ALG5 ALG9 ANGPTL6 ATP2B1 ATP6V1A B3GALT6 B3GAT3 BAZ1B BCL7B BGN BICC1 BRF1 BUD23 CARS1 CASZ1 CHD7 CHST3 CLIP2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DNAJB11 DNAJC30 DNMT3A EFEMP2 EIF4H ELN ENG ERCC6 ERCC8 FBLN5 FBN1 FBN2 FKBP6 FLNA FMR1 FOXE3 GABRD GANAB GATA5 GJA5 GJA8 GTF2I GTF2IRD1 GTF2IRD2 HEY2 HLA-B HNRNPK HSPG2 IFT140 IL12B IPO8 KANSL1 KCNAB2 KCNH1 LIMK1 LMNA LOX LUZP1 MAT2A MED12 METTL27 MFAP5 MID1 MLX MLXIPL MMP23B MYH11 MYLK MYPN NCF1 NKAP NKX2-5 NODAL NOTCH1 NPR3 PDPN PGM3 PIGN PKD1 PKD2 PPP1CB PRDM16 PRKCZ PRKG1 RERE RFC2 ROBO4 SEMA3E SKI SLC2A10 SMAD2 SMAD3 SMAD4 SMAD6 SPECC1L SPEN STX1A TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TMEM270 TPM2 TPM3 UBE4B VPS37D ZMPSTE24 HP_THORACIC_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_DYSPLASIA DYNC2I1 DYNC2I2 IFT172 NEK1 WDR19 WDR35 HP_THORACIC_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_HYPOPLASIA ABCC9 ACTA1 ACTG2 ADAMTS3 AGRN ATP7A B3GAT3 B4GALT7 BCOR BMPER CANT1 CASR CCBE1 CCDC47 CEP120 CFAP410 CFL2 CHST3 CILK1 CLCN7 COL11A1 COL11A2 COL1A1 COL1A2 COL2A1 CREB3L1 CRTAP CSPP1 CTSK DCHS1 DDR2 DDRGK1 DDX3X DLG3 DLK1 DNAJC21 DONSON DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 FAM20C FAT4 FBN1 FGFR2 FGFR3 FLNA FLNB GAD1 GBA1 GLI1 GNE GNPTAB GPX4 HHAT HSD17B4 HSPG2 IFT122 IFT140 IFT172 IFT43 IFT52 IFT80 IFT81 IHH IL6ST INPPL1 INTU ITGA3 KAT6A KBTBD13 KCNJ8 KIAA0586 KIAA0753 KLHL41 KYNU LBR LMNA LMOD3 MATN3 MBTPS2 MED12 MEG3 MESD MTOR MUSK MYOD1 MYPN NAA10 NEB NEK1 NEK9 NEPRO ORC6 PAM16 PCGF2 PCNT PIGA PIGN PIK3C2A PLCB3 POLR3A POR PRKACA PRKACB PTH1R PUF60 RMRP RPS19 RTL1 RUNX2 SBDS SCN4A SEC23A SERPINH1 SKI SLC10A7 SLC26A2 SLC35D1 SLC37A4 SLC9A6 SNRPB SNX10 SOX9 SRP54 TAPT1 TCIRG1 TCTN2 TMCO1 TNFSF11 TPM2 TPM3 TRIP11 TRPV4 TRPV6 TTC21B TWIST1 UPF3B WDR11 WDR19 WDR35 XYLT1 ZBTB20 ZC4H2 HP_THORACIC_KYPHOSCOLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSCOLIOSIS ADGRG6 AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DES DOK7 IARS2 ITCH LMNA LRP4 MUSK NKX3-2 PCGF2 PLOD1 PYCR2 RAPSN SCN4A SOX5 SPRTN ZMPSTE24 HP_THORACIC_KYPHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSIS AARS1 AIFM1 ALDH3A2 AMER1 ANKRD11 AP1G1 CARS1 CCN6 CDH11 COL2A1 CYP27A1 DMD DYM ERCC2 ERCC3 EXTL3 FBXO28 FGFR3 FLNB GBA1 GLB1 GNPTAB GTF2E2 GTF2H5 GUSB HECTD4 KIF22 KY LBR LHX3 MAN2B1 MED12L MGAT2 MPLKIP NARS1 NEPRO NFIX NPR2 PHF8 PIK3C2A POP1 PRKG2 PUF60 RMRP RNF113A RYR1 SLC26A2 SMARCAL1 SRD5A3 TARS1 TMEM231 TONSL TRAPPC2 TRPV4 VPS33A WDR81 XYLT2 HP_THORACIC_PLATYSPONDYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_PLATYSPONDYLY COL2A1 FLNB LBR PLCB3 PRKG2 RSPRY1 HP_THORACIC_SCOLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_SCOLIOSIS ACTA1 ADGRG6 AEBP1 AGRN AK9 ALMS1 BAG3 CHRNA1 CHRNB1 CHRND CHRNE COG1 COL13A1 COL2A1 DES DMD DOK7 ERLIN1 GDF3 GNS HINT1 IARS2 ITCH KMT2D LMNA LRP4 MOGS MTRFR MUSK MYH7 MYPN NEK9 NFIX NKX3-2 PCGF2 PEX5 PIK3R2 PLK4 PLOD1 PRKG2 PUF60 PYCR2 RAB3GAP2 RAB5IF RAPSN RBBP8 SCN4A SERPINH1 SGCA SOX5 SOX9 SPRTN TBX5 TPM2 TPM3 TUBB3 VPS13B WDR81 ZMPSTE24 HP_THORACOLUMBAR_KYPHOSCOLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSCOLIOSIS CCN6 CDH11 GNPTAB LHX3 MGAT2 NEPRO POP1 SLC26A2 HP_THORACOLUMBAR_KYPHOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSIS AMER1 CCN6 CDH11 COL2A1 EXTL3 FBXO28 FGFR3 FLNB GBA1 GLB1 GNPTAB GUSB KIF22 LBR LHX3 MAN2B1 MED12L MGAT2 NEPRO NPR2 POP1 SLC26A2 HP_THORACOLUMBAR_SCOLIOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_SCOLIOSIS ALMS1 AP1G1 ASH1L ATG7 ATP6V1B2 CCN6 CDH11 CHRNG CLCF1 COL1A2 COL2A1 COL6A2 GLIS3 GNB2 GNPTAB HNRNPK HYAL1 IDH1 IGBP1 IL6ST LBR LHX3 LONP1 MAPK8IP3 MED12 MGAT2 MYO18B NEPRO NIN PAPSS2 PDGFRB PIEZO2 PLK4 POP1 ROBO3 ROR2 RPL10 RSPRY1 SLC26A2 SLC35B2 TBC1D24 USP9X HP_THROMBOCYTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOCYTOSIS ABL1 ACAT1 ADA2 ATP6V1B2 BCR CALR CD55 ELANE ELF4 GATA1 HBB HEATR3 HLA-DQA1 HLA-DQB1 HMGCL HMOX1 IFNG IFNGR1 JAK2 KCNN4 LACC1 MARS1 MPL MTHFD1 PIK3CD PMM2 PSTPIP1 REL RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RPSA RUNX1 SF3B1 SH2B3 SKIC2 SKIC3 STING1 TBC1D24 TET2 TGFB1 THPO TSR2 TTC7A HP_THROMBOEMBOLIC_STROKE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOEMBOLIC_STROKE ABCC9 ADA2 GATA4 GATA5 GATA6 GJA5 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNQ1 MTHFR MYL4 NKX2-5 NKX2-6 NPPA NUP155 PITX2 SCN1B SCN2B SCN3B SCN4B SCN5A TTN HP_THROMBOEMBOLISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOEMBOLISM ABCC9 ADA2 CBS CITED2 EPOR F12 F13A1 F2 FCGR2C FLNC GATA4 GATA5 GATA6 GJA5 HABP2 HRG JAK2 KCNA5 KCNE1 KCNE2 KCNJ2 KCNJ3 KCNJ5 KCNK3 KCNN4 KCNQ1 KIF20A MMACHC MT-CYB MTHFR MTRR MYH7 MYL4 MYPN NKX2-5 NKX2-6 NPPA NUP155 PDE11A PIEZO1 PIGA PITX2 PRDX1 PRKAR1A SCN1B SCN2B SCN3B SCN4B SCN5A SERPINC1 SLC4A1 TLL1 TNNI3 TNNT2 TTN TTR UBA1 HP_THROMBOPHLEBITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOPHLEBITIS AKT1 F13A1 F2 HABP2 MTHFR PROC PRORP PROS1 PTEN SERPINC1 TGFB2 HP_THUMB_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THUMB_CONTRACTURE BMP4 DLK1 ECE1 L1CAM MEG3 RTL1 HP_THYMUS_HYPERPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYMUS_HYPERPLASIA AKT1 ALG14 MTHFR NUAK2 PTEN VANGL2 HP_THYROIDITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROIDITIS ADA ADA2 AKT1 C1S CASP10 CDKN1B CHD7 CLCNKB CTLA4 DCLRE1C FAS FASLG FOXD3 FOXP3 GPR35 HLA-DQA1 HLA-DQB1 IL18BP IL2RA IL2RG IL7R ITCH LIG4 LRBA MST1 NFKB2 NLRP1 PI4KA PIK3CA PLCG2 POLG PRKCD PTEN RAG1 RAG2 RASGRP1 RMRP SEC23B SEMA4D SLC12A3 SLC37A4 SOCS1 STAT1 STAT5B TBX2 TCF4 TG TOM1 TTC7A ZFAT HP_THYROID_ADENOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_ADENOMA AKT1 CASP10 CDC73 CDKN1B FAS FASLG HEPACAM MEN1 MSH3 PIK3CA PRKCD PTEN RASGRP1 HP_THYROID_AGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_AGENESIS FOXE1 KAT6B NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR HP_THYROID_CARCINOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_CARCINOMA AKT1 APC ARID1A ARID1B ARID2 BMPR1A CASP10 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 DICER1 DPF2 FAS FASLG FLCN FOXE1 FOXI1 GREM1 HABP2 HEPACAM HRAS JAG1 KCNJ10 KEAP1 KLLN MDM2 MEN1 MINPP1 NKX2-1 NRAS PDE11A PIK3CA PRKAR1A PRKCD PTEN RASGRP1 RET SDHB SDHC SDHD SEC23B SLC26A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SRGAP1 TG TP53 USF3 WRN HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE DUOX2 DUOXA2 IYD SLC5A5 TG TPO HP_THYROID_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DYSGENESIS GLI3 IL6ST KAT6B LIFR NKX2-1 NKX2-5 PAX8 HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER CACNA1S CLCNKB GABRA3 KCNJ18 SLC12A3 TSHR HP_TIBIALIS_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIALIS_MUSCLE_WEAKNESS DYSF GIPC1 GNE LRP12 MTRFR NOTCH2NLC RILPL1 TTN HP_TIBIAL_BOWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_BOWING CHST3 CILK1 CLCN5 CLTCL1 COL10A1 COL11A2 COL1A1 COL1A2 COL2A1 CPLANE1 CYP27B1 CYP2R1 DLK1 DMP1 DYM ENPP1 FGFR3 FIBP FLNA FLNB FN1 GORAB LIFR LRP5 MEG3 MMP13 P3H1 PCNT PCYT1A PDGFRB PHEX RMRP RTL1 SATB2 SERPINH1 SETBP1 SHOX SLC34A3 SMOC1 SOX9 VDR HP_TIBIAL_TORSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_TORSION ADGRV1 COL2A1 COL9A2 COL9A3 DDX6 FIBP GABRA1 GABRD GABRG2 HCN1 PCDH19 PRR12 RBM8A SCN1A SCN1B SCN2A SCN9A SLC26A2 SLC29A3 STX1B HP_TICS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TICS ARID2 BCR CEP152 COASY CRKL EMC10 GATAD2B GNB1 GRIA1 HDC KCNN2 KMT5B MAPK1 PANK2 PDGFB POGZ PTCHD1 PUF60 SLITRK1 SLITRK2 SPTBN1 VPS13A ZBTB20 ZSWIM6 HP_TIGER_TAIL_BANDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIGER_TAIL_BANDING AARS1 CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 MARS1 MPLKIP RNF113A TARS1 HP_TINNITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TINNITUS ABCC1 AIFM1 AKT1 ATP1A2 ATP2B2 BAP1 CACNA1A CACNA1D CAV1 CCDC50 CCND1 CLCN2 CLCNKB COCH COQ6 CYP11B1 CYP11B2 DIABLO DKK1 DLST DNMT3A DSPP EPAS1 FH GRM1 JAK2 KCNJ5 KCNQ4 KIF1B LOXHD1 LZTR1 MAX MDH2 MFN2 MIR96 MPL NAGA NF1 NF2 OSBPL2 P2RX2 PDGFB PIK3CA PMP22 PRRT2 RET SCN1A SDHA SDHAF2 SDHB SDHC SDHD SLC12A3 SLC25A11 SLC39A14 SLC44A4 SMARCB1 SMARCE1 SMO SUFU TERT TET2 THOC1 TMC1 TMEM127 TRAF7 VHL HP_TIP_TOE_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIP_TOE_GAIT AASS ADSS1 AGRN AIFM1 ALDH18A1 ALS2 AP5Z1 ARSA ATL1 B4GALNT1 BAG3 BICD2 CAPN3 CHAT COASY COL12A1 COL13A1 CRPPA CYP2U1 DDHD2 DEAF1 DMD DYNC1H1 DYSF EMD ERLIN1 FBN1 FHL1 FKRP FKTN FUS GFM2 GJB1 GNB2 GNPTAB H4C5 HADHA HADHB HARS1 INPP5K KCNA1 KIDINS220 KIF1C KMT2B KY LMNA LMX1B LRSAM1 MORC2 MT-TE MYH7 MYO9A MYPN PANK2 PEX16 PI4KA PNPLA8 POMT1 PSAP REEP2 SBF2 SGCA SGCG SIGMAR1 SLC18A3 SLC25A1 SLC39A14 SLC5A7 SMG8 SNAP25 SPG11 SPTBN1 SPTLC1 SYNE1 SYNE2 SYT2 TLK2 TMEM43 TNNT1 TPM2 TPM3 VAMP1 VCP YY1 HP_TITUBATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TITUBATION AARS1 ACBD5 ALS2 BRAT1 EIF2AK2 FLVCR1 FUS GJC2 HIBCH HSPD1 HYCC1 IFRD1 ITPR1 KARS1 KCNC3 KIF1C LAMA1 LMNB1 MAG NKX6-2 PI4KA PITRM1 PLP1 RNU12 SIGMAR1 SLC19A3 SPG11 SPTBN1 SPTLC1 THG1L TMEM63A TPP1 UCHL1 VPS13A HP_TOENAIL_DYSPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOENAIL_DYSPLASIA ANGPT2 ATP6V1B2 BHLHA9 BMP2 EOGT EVC EVC2 FLT4 GJC2 LMX1B PIEZO1 SHANK3 TAF1 TBC1D24 TP63 VEGFC HP_TOE_CLINODACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_CLINODACTYLY ALG3 ATP2B1 CKAP2L COG8 DACT1 DLEC1 EZH2 FLI1 FLNA FRA10AC1 HEPHL1 HNRNPR KCNJ2 KCNJ5 NOG PIGH RAB3GAP2 RFX7 RNF6 RSPRY1 SALL1 SATB2 TGFBR2 WWOX XYLT1 HP_TOE_DEFORMITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_DEFORMITY AARS1 ADCY6 AEBP1 ARX ASXL1 ATN1 ATP6V1E1 BCOR BLTP1 BMPER BPTF BSCL2 CCDC22 CCDC47 CDC42 CHCHD10 CHP1 CHST11 COA7 CPLX1 CPT1C CREBBP CTU2 DCAF8 DDX6 DHCR7 DLK1 EBP EGR2 EP300 ESCO2 EXT2 EZH2 FBN1 FGFR2 GARS1 GBF1 GDAP1 GDF6 GJA5 GJA8 GLI3 GNB4 HARS1 HNRNPK HSD17B4 HUWE1 INF2 INTS1 INTS8 ITPR3 KAT6A KAT8 KIF1B LMNA LRSAM1 MAD1L1 MAPK1 MED12 MED25 MEG3 MFN2 MORC2 MPV17 MPZ MYH8 MYOD1 NDRG1 NEFL NEK9 NRCAM OTUD6B PCGF2 PDXK PDZD8 PEX7 PHYH PIEZO2 PLEKHG5 PMP2 PMP22 PPP1R21 PRX PUF60 RAB11B RAB3GAP1 RAB3GAP2 RAB7A REEP1 RSPRY1 RTL1 SACS SBF2 SETBP1 SF3B4 SH3TC2 SIGMAR1 SIN3A SLC35A3 SLC35C1 SLC6A9 SMAD4 SNRPN SOD1 SOX5 SPART SYT2 TCF4 TELO2 THOC6 TMCO1 TMEM260 TMEM94 TOR1A TPM2 TRPV4 UBE2A USP9X VCP WIPI2 XYLT2 ZNF407 HP_TOE_JOINT_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_JOINT_CONTRACTURE AMER1 BCOR CHRNG DSP EIF5A ERCC1 ERLIN2 FBN1 FGFR3 FHL1 FLNA GLI3 HSPG2 IPO8 JUP LIFR MMP2 MYH3 MYL11 NOD2 NT5C2 PHF6 PIEZO2 PIGN PPP2R5D PRG4 PSMB8 RYR3 SCARF2 SLC29A3 TBC1D2B TGFB3 HP_TOE_SYNDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_SYNDACTYLY ADNP ALDH1A2 AP1G1 APC APC2 ARCN1 ARHGAP31 ARL6IP6 ATP6V1B2 ATP9A B3GLCT BBS7 BCOR BCR BHLHA9 BMP2 BMP4 BMPR1B BMS1 BRCA1 BRCA2 BRD4 BRIP1 CACNA1C CAMTA1 CCNQ CD96 CDC45 CDH3 CEP120 CEP55 CERT1 CKAP2L CLCF1 CNOT2 CNTNAP1 CPLANE1 CREBBP CRKL CSGALNACT1 CTCF CUL4B DACT1 DDX11 DDX6 DEAF1 DHCR7 DLL4 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP EFNB1 EN1 EP300 ERCC4 ESCO2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBLN1 FBXW11 FDFT1 FGF10 FGF16 FGF9 FGFR1 FGFR2 FGFR3 FIG4 FLI1 FLII FLNA FRAS1 FREM2 GABRA3 GDF5 GJA1 GLI3 GNA11 GNE GPC3 GPC4 GRIP1 H3-3A H4C9 HDAC4 HDAC8 HEPHL1 HOXD13 IFT140 IFT172 IFT43 IFT80 IL11RA IQCE IQSEC2 IRF6 ITGB4 JARID2 KCNJ2 KCNJ5 KCTD1 KIAA0753 KIF7 KMT2A KMT2B LIG4 LMBR1 LRP4 MAB21L2 MAD2L2 MAN1B1 MAP3K20 MAPK1 MAPRE2 MCTP2 MECP2 MED25 MEF2C MEGF8 MEIS2 MIR17HG MRPS28 MYCN MYH8 MYRF NBN NECTIN1 NECTIN4 NEDD4L NEK9 NIPBL NOG NSD1 NSDHL NSUN2 NXN OTUD6B PALB2 PDE6D PHGDH PHIP PIGY PIK3CA PLEC POLR3A POLR3GL PORCN PRKD1 PSAT1 PSMD12 PUF60 RAB23 RAD21 RAD51 RAD51C RAI1 RALA RBBP8 RBPJ RFWD3 RHOA RIPK4 ROR2 RPL10 SALL1 SALL4 SATB1 SC5D SCARF2 SCNM1 SETD2 SETD5 SF3B4 SHANK3 SHH SHMT2 SIK3 SIN3A SLC12A2 SLC12A6 SLC39A8 SLX4 SMAD2 SMAD4 SMARCAD1 SMC1A SMC3 SMO SMOC1 SOX5 STAG1 SVBP SYT1 TBCK TBR1 TBX15 TBX22 TCTN3 TELO2 TFAP2B TMEM231 TP63 TRIO TRMT5 TRRAP TTC21B TTI2 TWIST1 TWIST2 TXNL4A UBA2 UBE2A UBE2T WDPCP WDR19 WLS WNT10B WNT7A XRCC2 ZMIZ1 ZNF699 HP_TONGUE_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_ATROPHY DOK7 ECEL1 EXOSC3 FRG1 GSN IGHMBP2 KY MORC2 NEFL NOP56 OPTN PANK2 SBF2 SH3TC2 SLC52A3 SPTLC1 HP_TONGUE_FASCICULATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_FASCICULATIONS ADPRS AGTPBP1 AIFM1 ASAH1 ATP11A ATP1A2 CACNA1A CHCHD10 EGR2 EXOSC3 EXOSC8 EXOSC9 FXR1 KCNK9 LGI3 MEGF10 MPZ NDUFS4 NOP56 OPTN PMP22 PRRT2 PRUNE1 PRX RMND1 SCN1A SH3TC2 SLC25A21 SLC25A46 SLC52A2 SLC52A3 SMN1 SMN2 SPTLC1 SYT2 TBCD TOE1 TSPYL1 UBA1 VCP VRK1 VWA1 HP_TONGUE_NODULES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_NODULES CPLANE1 ECM1 FAM149B1 KIAA0753 KIF7 NEK1 OFD1 PDE11A PDE6D PRKAR1A RBM10 SCNM1 TCTN3 TMEM216 TOPORS HP_TONGUE_THRUSTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_THRUSTING BRAF CDKL5 DDC FOXG1 GABBR2 GLYCTK GRIK2 KIF15 MECP2 NTNG1 OCA2 SHANK3 SMC1A TPR UBE3A ZSWIM6 HP_TONIC_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONIC_SEIZURE ADGRV1 ADNP AKT3 ALG13 ARFGEF1 ARHGEF9 ARX ATP1A3 ATP6V0A1 ATP6V1A CACNA1A CACNA1B CACNA1C CACNB4 CASK CDKL5 CENPE CEP85L CHD2 CLCN3 CLCN4 CNPY3 COG2 COQ8A CPLX1 CUL3 CUX2 D2HGDH DENND5A DMXL2 DNM1 DOCK7 DPM1 EEF1A2 EN1 FBXO28 FGF12 FZR1 GABBR2 GABRA1 GABRA3 GABRA5 GABRB3 GABRG2 GNAO1 GNB1 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRM7 HCN2 HID1 HNRNPU KARS1 KCNA1 KCNC2 KCNQ2 KCNQ3 KCNQ5 KCNT1 KCNT2 KDM5C LNPK MAPK10 MAST3 MDH2 MECP2 MTHFS MTOR NACC1 NAPB NECAP1 NEUROD2 NEXMIF NGLY1 NSF PACS2 PAFAH1B1 PCDH12 PCDH19 PHACTR1 PIGP PIGQ PIGT PIGW PIK3CA PLCB1 PLPBP PNKP POMK PPFIBP1 PPP3CA PRRT2 PSAP PTPN23 PURA RPL10 RUSC2 SATB1 SCN1A SCN1B SCN2A SCN8A SCN9A SIK1 SLC1A2 SLC25A12 SLC25A22 SLC32A1 SLC38A3 SLC6A19 SQOR ST3GAL3 STX1B STXBP1 SYNJ1 SZT2 TANGO2 TBCD TBL1XR1 TMEM147 TRIM8 TSEN2 TUBA1A UFSP2 VPS50 VPS53 WDR45B HP_TOOTH_ABSCESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_ABSCESS DLX3 DMP1 ELANE ENPP1 FGF23 NTRK1 PHEX HP_TOOTH_MALPOSITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_MALPOSITION ABCC9 ABL1 ACP4 ACP5 ACTA1 ACTL6B ACVR1 ADAMTS10 ADAMTS2 ADNP AEBP1 AFF3 AGO2 AIMP2 AIP ALKBH8 ALX3 ALX4 AMELX AMER1 AMMECR1 ANKH ANKRD11 ARHGAP29 ARHGEF38 ARL6 ARSK ASPH ASXL3 ATP6V1B2 ATP6V1E1 ATR ATRX AXIN2 B3GLCT BANF1 BAP1 BAZ1B BBS1 BCAS3 BCL7B BCOR BMP2 BMP4 BPTF BRAF BRCA1 BRD4 BRF1 BUD23 C12orf57 CA2 CAMK2B CBS CCDC28B CCDC47 CDC42 CDC42BPB CDH1 CDH11 CDH3 CDK19 CDK5RAP2 CERT1 CHD3 CHRNE CHRNG CHST3 CHSY1 CLCN7 CLIP2 CLP1 CNOT2 COBLL1 COL1A2 COL3A1 COL5A1 CREBBP CTSK CUL4B DCHS1 DDR2 DHCR7 DLG1 DLX3 DLX4 DNAJC30 DNMT3A DOCK3 DOCK7 DPH1 DPH2 DPM2 DSE DSPP DVL1 DVL3 DYRK1A EDA EDARADD EDN1 EDNRA EIF2S3 EIF4H ELN EMC10 ENAM EP300 ERCC1 ERCC4 ERCC6 ERCC8 EXOSC5 EYA1 FAM83H FAT4 FBN1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FKBP6 FLCN FLNA FRAS1 FREM1 FREM2 FZD2 GALNS GATAD2B GFPT1 GJA1 GJA5 GJA8 GLB1 GLI2 GNAI3 GNAS GNB2 GPC3 GPC4 GPR101 GPR68 GRB10 GRHL3 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19 H4C5 HACD1 HDAC4 HDAC8 HIVEP2 HK1 HMGB3 HNRNPH1 HNRNPK HRAS HSPG2 IDS IFT122 IFT140 IFT43 IFT52 IFT57 IGF2 IL11RA IL1RAPL1 IL6ST INSR IRF6 IRX5 ITGA7 ITGB6 KANSL1 KATNB1 KCNH1 KCNJ2 KCNJ5 KCNMA1 KCNN3 KDM1A KDM5C KDM6A KIAA0753 KIDINS220 KIF15 KLK4 KMT2D LARP7 LGI4 LIMK1 LMBRD2 LMNA LOX LRP5 LRP6 LTBP3 MADD MAN2B1 MAP2K1 MAP3K20 MAP3K7 MAPK1 MARS1 MASP1 MBD5 MECP2 MED12 MED13L MED27 MEGF8 METTL27 MGAT2 MLXIPL MMP20 MSX1 MTM1 MYH3 MYL2 MYMX MYOD1 NAA10 NAA20 NARS1 NCF1 NDST1 NECTIN1 NECTIN4 NEDD4L NHS NIPBL NONO NOTCH2 NOTCH3 NSDHL NXN OBSL1 OCA2 OCRL OFD1 PACS1 PACS2 PAX1 PAX9 PCGF2 PCYT1A PDE4D PDGFRA PEX6 PIGA PIGK PIGL PIGS PIK3R1 PLCB4 PLEKHM1 PLOD1 POLD1 POLR1B POLR1C POLR1D POLR2A PORCN PPP1CB PRKACA PRKAR1A PRKD1 PRMT7 PRR12 PSMD12 PTEN PTH1R PTPN11 PTPRF PUS7 PYROXD1 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RDH11 RECQL RELT RFC2 RHOA RHOBTB2 RIC1 RLIM RNF113A RNF2 ROR2 RPL10 RPS6KA3 RUNX2 SATB1 SATB2 SCARF2 SCN4A SCUBE3 SELENON SET SETBP1 SETD1A SETD5 SH3BP2 SH3PXD2B SHANK3 SIX1 SKI SLC39A13 SMAD3 SMARCA2 SMARCD2 SMC1A SMC3 SMC5 SMCHD1 SMS SNRPN SNX14 SOBP SOS1 SOST SOX5 SPART SPECC1L SPEN SSR4 STAG1 STX1A SUMO1 TAB2 TAF6 TANC2 TBC1D24 TBC1D2B TBCD TBL1XR1 TBL2 TBX4 TCF12 TCF4 TCIRG1 TCOF1 TECPR2 TGFA THOC6 TMEM270 TP63 TPM2 TPM3 TRIM37 TRIO TRPS1 TSPAN7 TTI2 TUBGCP2 TWIST1 TWIST2 UBE3A UBE3B UPF3B USP9X VPS37D WDR26 WDR35 WNT10A WNT10B WNT5A XRCC4 XYLT1 ZBTB7A ZDHHC9 ZEB2 ZMPSTE24 ZNF526 ZSWIM6 HP_TORSADE_DE_POINTES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSADE_DE_POINTES AKAP9 ALG10B ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 HCN4 KCNE1 KCNE2 KCNH2 KCNJ2 KCNJ5 KCNQ1 NAA10 NOS1AP RYR2 SCN10A SCN4B SCN5A SNTA1 TANGO2 TBX5 TRDN HP_TORSION_DYSTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSION_DYSTONIA ADAR HPCA PRRT2 SLC2A1 TAF1 THAP1 TOR1A TUBB4A HP_TORTUOUS_CEREBRAL_ARTERIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORTUOUS_CEREBRAL_ARTERIES ALDH18A1 APP COL5A1 IPO8 SMAD3 HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN ACVR2B CDC42 CFAP53 DHCR24 GDF1 GPC3 GPC4 MMP21 NIPA1 NIPA2 NODAL RPS15A TUBG1 WT1 ZIC3 HP_TOTAL_OPHTHALMOPLEGIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOTAL_OPHTHALMOPLEGIA CDKL5 GABBR2 GRIN1 MECP2 NTNG1 POLG SMC1A TMEM67 HP_TRACHEAL_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEAL_CALCIFICATION ARSL DDR2 EBP LBR MGP HP_TRACHEAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEAL_STENOSIS ADAMTSL2 ARSL BUB1 DDRGK1 DHCR7 EBP EXTL3 FLNB FOXI1 FRAS1 FREM2 GRIP1 HOXD13 HYLS1 IDUA KCNJ10 KIF7 LTBP3 MAP3K7 MGP PCNT RMRP RSPO2 SLC26A2 SLC26A4 SMAD4 WNT3 ZEB2 HP_TRACHEOBRONCHOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOBRONCHOMALACIA EHMT1 GMNN IDS RAC1 SCUBE3 SLC26A2 SOX9 HP_TRACHEOESOPHAGEAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOESOPHAGEAL_FISTULA ARNT2 BAZ1B BCL7B BRCA1 BRCA2 BRIP1 BUD23 CHD7 CLIP2 CTC1 CYBA CYBB CYBC1 DKC1 DNAJC30 EIF4H ELN ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN2 FGF20 FGFR1 FKBP6 FOXF1 GFRA1 GREB1L GTF2I GTF2IRD1 GTF2IRD2 HESX1 HOXD13 ITGA8 LIMK1 LMBRD1 MAD2L2 METTL27 MID1 MLXIPL MYCN NCF1 NCF2 NCF4 NHP2 NOP10 NOTCH3 NPM1 OTX2 PAICS PALB2 PARN PDGFRB POLA1 POLR1B POLR1C POLR1D PROKR2 RAD51 RAD51C RET RFC2 RFWD3 RTEL1 SALL1 SEMA3E SLC12A2 SLX4 SOX2 SOX3 STX1A TBL2 TCOF1 TERC TERT TINF2 TMEM270 TYMS UBA2 UBE2T USB1 VPS37D WBP11 WNT7A WNT9B WRAP53 XRCC2 ZIC3 HP_TRACHEOMALACIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOMALACIA AFF4 AHDC1 AMER1 B3GALT6 BMPER COL2A1 DCHS1 EHMT1 EMC1 ERF FAT4 FGFR2 FLNB GMNN HDAC4 HK1 HRAS IDS KANSL1 KIF22 KMT2C LTBP4 MID1 MYRF ORC4 ORC6 PAX3 POLG PRRX1 RAB3GAP2 RAC1 RALGAPA1 RPL5 SCUBE3 SETD2 SLC26A2 SNRPB SOX9 TONSL TRIM2 TRRAP USP9X WDR26 ZNF699 HP_TRACTIONAL_RETINAL_DETACHMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACTIONAL_RETINAL_DETACHMENT ATOH7 CTNNB1 FZD4 LRP5 NDP TSPAN12 VCAN ZNF408 HP_TRANSIENT_GLOBAL_AMNESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_GLOBAL_AMNESIA AKT1 BAP1 CTSH HCRT HLA-DQB1 HLA-DRB1 MEN1 MOG NF2 P2RY11 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TNFSF4 TRAF7 TRANK1 YY1 ZNF365 HP_TRANSIENT_HYPERPHENYLALANINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_HYPERPHENYLALANINEMIA GCH1 IMPDH2 NR4A2 PCBD1 SPR HP_TRANSIENT_ISCHEMIC_ATTACK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_ISCHEMIC_ATTACK ABCC6 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADAMTS13 ANGPTL6 CALR CITED2 COL3A1 ELN ENG ENPP1 FBN1 FOXE3 GATA4 GATA6 GDF2 GLA HEY2 HTRA1 JAK2 KRAS LMNA LOX MAT2A MFAP5 MPL MYBPC3 MYH11 MYH6 MYLK NKX2-5 NOTCH3 PRKG1 RNF213 SH2B3 SMAD2 SMAD3 SMAD4 SMARCAL1 SON TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 THSD4 TLL1 TP53 ZMPSTE24 HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS ABCC8 APPL1 BLK CEL GCK HNF1A HNF4A HYMAI INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PLAGL1 ZFP57 HP_TRANSIENT_NEUTROPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEUTROPENIA CLPB DNAJC21 EFL1 FIBP IRAK4 SBDS SPI1 SRP54 HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES ACVR2B ATP2B1 BMP2 CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP53 CFAP74 CFC1 CIROP DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FANCB FKTN FOXJ1 GAS2L2 GAS8 GATA4 GATA6 GDF1 GJA5 GJA8 GNB2 GPC3 GPC4 HYDIN LMNA LRRC56 MCIDAS MED13L MEGF8 MMP21 NEK10 NKX2-5 NKX2-6 NME5 NME8 NODAL ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PHGDH PIGL PLXND1 QRICH1 RAB23 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SMAD2 SMG9 SPAG1 SPEF2 STK36 TBX1 TTC12 WT1 ZIC3 ZMPSTE24 ZMYND10 ZNF462 HP_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR AARS1 AARS2 AASS ABCB11 ABCB4 ABCB6 ABCB7 ABHD12 ACBD5 ACTL6B ADA2 ADAMTS13 ADAR ADCY5 ADGRV1 ADH1C ADPRS ADRA2B AFG3L2 AHI1 AIFM1 AKT1 ALDH18A1 ALS2 AMACR ANO10 ANO3 ANOS1 AP2M1 AP3B2 APC2 APTX AR ARL13B ARL3 ARMC9 ARSA ARV1 ARX ASAH1 ASNS ATCAY ATG7 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP6AP2 ATP6V1A ATP7B ATP8B1 ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS B9D1 B9D2 BAZ1B BCL7B BEAN1 BRAT1 BSCL2 BUD23 C19orf12 CA8 CACNA1A CACNA1B CACNA1C CACNA1G CACNA1S CACNA2D1 CAMTA1 CARS1 CARS2 CASK CBY1 CC2D2A CCDC141 CCDC88C CD28 CDC42BPB CDH23 CDK19 CDKL5 CELF2 CEP104 CEP120 CEP126 CEP41 CHCHD10 CHCHD2 CHD2 CHD7 CIZ1 CLCN2 CLCN7 CLIP2 CLN5 CLPB CLTC CNKSR2 CNTN2 COA7 COL6A3 COQ2 COQ5 COQ8A CP CPLANE1 CRAT CSPP1 CSTB CTC1 CTDP1 CTH CTLA4 CTNND2 CTSF CUL4B CWF19L1 CYFIP2 CYP27A1 CYP7B1 DAB1 DALRD3 DARS2 DCC DCTN1 DDC DDOST DHDDS DLST DMXL2 DNAJC13 DNAJC19 DNAJC30 DNAJC6 DNM1 DNM1L DNMT1 DNMT3A DPAGT1 DPM1 DRD3 DUSP6 EEF1A2 EIF2AK2 EIF4G1 EIF4H ELN ELOVL1 ELOVL4 ELOVL5 EPAS1 EPRS1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN2 FAM149B1 FAR1 FARS2 FBXO28 FBXO7 FEZF1 FGF12 FGF13 FGF14 FGF17 FGF8 FGFR1 FH FKBP6 FLRT3 FLVCR1 FMR1 FRMPD4 FTL FUS FXN FZR1 GABBR2 GABRA1 GABRA2 GABRA3 GABRA5 GABRB2 GABRD GABRG2 GALC GALT GAMT GBA1 GBA2 GCDH GCH1 GCK GGT1 GIGYF2 GJA5 GJA8 GJB1 GJC2 GLUD2 GNAO1 GOSR2 GPAA1 GPT2 GRIA3 GRIK2 GRIN1 GRIN2D GRM1 GRM7 GSS GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 HCN1 HESX1 HEXB HIBCH HMBS HMGA2 HNF4A HPCA HS6ST1 HSD17B4 HSPD1 HTRA2 HTT HYCC1 HYLS1 IFIH1 IFRD1 IFT74 IL17RD IMPDH2 INPP5E ITM2B ITPA ITPR1 JAG1 JPH3 KARS1 KATNIP KCNA1 KCNA2 KCNB1 KCNC1 KCNC3 KCND3 KCNJ10 KCNJ18 KCNK4 KCNN2 KIAA0586 KIAA0753 KIF1B KIF1C KIF7 KMT2B KNSTRN LAMA1 LEMD2 LEMD3 LIMK1 LMAN2L LMNB1 LNPK LRP12 LRPPRC LRRK2 LSM11 LYST MAG MAN1B1 MAOA MAPT MARCHF6 MARS1 MAX MDH2 MECP2 MED11 MEN1 METTL27 MFN2 MICU1 MKS1 MLXIPL MMAA MMACHC MME MORC2 MPLKIP MPZ MRE11 MRPL12 MRPS34 MSTO1 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TT MTFMT MYBPC1 MYH14 MYL2 MYO5A NARS1 NAXE NCF1 NDNF NDRG1 NDUFS2 NECAP1 NEFL NEMF NEU1 NEUROD2 NEXMIF NF1 NFASC NFE2L2 NGF NGLY1 NIPA1 NKX2-1 NKX6-2 NOL3 NONO NOP56 NOTCH2NLC NPHP1 NPTX1 NR1H4 NR4A2 NSD1 NTNG1 NTNG2 NTRK2 NUS1 NUTM2B-AS1 OCA2 OFD1 OPA1 OPA3 OPHN1 OXR1 PACS2 PAH PANK2 PARK7 PARS2 PCBD1 PCDH19 PDE10A PDE6D PDE8B PDGFB PDGFRB PDHA1 PDK3 PDYN PEX10 PEX16 PEX2 PEX6 PGAP1 PGK1 PHIP PI4KA PIBF1 PIGA PIGN PIGP PIGQ PIK3CA PIK3CD PIK3R5 PINK1 PITRM1 PLA2G6 PLP1 PMM2 PMP2 PMP22 PMPCA PNKP PNP PNPLA6 PODXL POLG POLG2 POLR1C POLR3A POLR3B POU4F1 PPP1R15B PPP2R2B PPP3CA PRDX1 PRDX3 PRICKLE1 PRKAR1B PRKCG PRKN PRKRA PRNP PROK2 PROKR2 PRORP PRPS1 PSAP PTEN PTS PUS7 QDPR QRICH1 RAB39B RAB3GAP2 RARS1 REEP2 REPS1 RET RFC1 RFC2 RILPL1 RLIM RNASEH2A RNASEH2B RNASEH2C RNF113A RNU12 RNU7-1 RORA RPGRIP1L RPL10 RRM2B SACS SAMD12 SAMHD1 SATB1 SBF2 SCARB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCP2 SCYL1 SDHA SDHAF2 SDHB SDHC SDHD SEMA3A SEMA6B SETD2 SETX SFXN4 SGCE SH3TC2 SIGMAR1 SIK1 SLC12A6 SLC13A5 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC20A2 SLC25A11 SLC25A13 SLC25A22 SLC25A4 SLC25A46 SLC2A1 SLC30A10 SLC32A1 SLC38A3 SLC39A14 SLC39A4 SLC5A7 SLC6A1 SLC6A17 SLC6A3 SLC9A1 SMC1A SMG9 SMN1 SMN2 SNCA SNCAIP SNORD118 SNRPN SNX10 SOX10 SPEN SPG11 SPR SPRY4 SPTBN1 SPTBN2 SPTLC1 SQSTM1 STARD7 STUB1 STX1A STX1B STXBP1 SUFU SYNGAP1 SYNJ1 SZT2 TACR3 TAF1 TARS1 TAT TBC1D24 TBL2 TBP TCIRG1 TCTN1 TCTN2 TCTN3 TECR TENM4 TFG TGM6 TH THG1L THOC2 TIMM8A TK2 TMCO1 TMEM106B TMEM127 TMEM216 TMEM218 TMEM222 TMEM237 TMEM240 TMEM270 TMEM63A TMEM67 TMEM70 TNFRSF1B TNFSF11 TNNT1 TNPO2 TOGARAM1 TOPORS TOR1A TPI1 TPK1 TPP1 TPR TRAK1 TRAPPC11 TRAPPC6B TREX1 TRIM8 TRIO TRMT5 TSFM TSHR TSPOAP1 TTC19 TTPA TTR TUBB4A TWNK UBA5 UBE3A UBE3C UCHL1 UFC1 UGT1A1 UQCRC1 UROC1 VAMP1 VAPB VCP VHL VLDLR VPS13A VPS13C VPS13D VPS35 VPS37D VRK1 VWA3B WARS2 WDR11 WDR45 WDR81 WFS1 WWOX XPNPEP3 YEATS2 YWHAG YY1 ZFR ZFYVE26 ZNF142 HP_TREMOR_BY_ANATOMICAL_SITE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR_BY_ANATOMICAL_SITE AARS1 AARS2 ABCB6 ADRA2B AFG3L2 ALS2 ANO3 ATP7B CACNA1G CAMTA1 CARS2 CDC42BPB CEP104 CIZ1 CLN5 CNTN2 COL6A3 CTNND2 DDC DNMT1 DRD3 EIF2AK2 ERLIN2 FGF14 FUS GBA2 GCK GJB1 GJC2 GRIA3 HIBCH HSPD1 IFRD1 ITPA ITPR1 KARS1 KCNN2 KIF1C LAMA1 LMNB1 MARCHF6 MARS1 MFN2 MORC2 MPZ MYBPC1 NEFL NGF NKX6-2 NOP56 NOTCH2NLC NPTX1 PDGFB PDK3 PEX16 PEX6 PGAP1 PHIP PI4KA PIK3R5 PLA2G6 PLP1 PMP2 PMP22 POLG PPP2R2B RAB3GAP2 RNU12 SAMD12 SCP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC6A17 SMN1 SMN2 SNRPN SPG11 SPTBN1 SPTLC1 STUB1 TAF1 TBC1D24 TENM4 TFG TMEM63A TOR1A TRAPPC6B TRIM8 TSHR TUBB4A UBE3A UCHL1 VPS13A VRK1 YEATS2 ZFR ZFYVE26 HP_TRIANGULAR_FACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_FACE ADGRG6 AGPAT2 ALDH18A1 ALG12 ANKRD11 ANKRD17 AP1S2 ARX ATP6V1A ATP6V1E1 B9D1 BMP1 BPTF BRAF BSCL2 BSND BUB1 BUB1B BUB3 CAV1 CBL CCDC8 CDC6 CDK10 CDKN1C CEP57 CLCNKA CLCNKB COL1A1 COL1A2 CUL7 DCAF17 EBF3 ELN EMC10 EPG5 ERCC6 FANCC FANCI FBLN5 FBN1 FKBP10 FLCN FOCAD FRA10AC1 GBA1 GJA5 GJA8 GMPPA GRB10 H19 H4C5 HERC1 HMGA2 HS6ST2 HUWE1 IFITM5 IGF1R IGF2 JAG1 JARID2 KAT6A KCNJ1 KCNJ2 KCNJ5 KRAS LARP7 LEMD2 LEMD3 LZTR1 MAFB MAP2K1 MCTP2 MED12 MED12L MED13L MRAS MTX2 MVK MYCN MYH3 MYOD1 NALCN NECTIN1 NFIX NONO NOTCH2 NRAS NSD1 OBSL1 ORC6 PAPPA2 PAX7 PEX13 PEX14 PEX19 PIEZO2 PIK3R1 PLAG1 PLOD2 POC1A POLR3A PPP2R5D PQBP1 PRKG2 PRPS1 PSMD12 PTF1A PTPN11 PUS7 PYCR1 PYCR2 RAF1 RAI1 RASA2 RERE RIT1 RRAS RRAS2 SCUBE3 SEC24D SEC31A SERPINH1 SIN3A SLC25A24 SLC45A1 SMARCA2 SMARCAL1 SMC1A SMC5 SOS1 SOS2 SOX6 SPOP SPRED1 SPRED2 SPRTN SRCAP STAG2 SYNGAP1 TALDO1 TAOK1 TBX2 TMEM94 TNNI2 TNNT3 TNRC6B TRIM37 TRIP13 TRMT5 TRPS1 UNC80 XRCC4 ZMYM2 ZNF148 ZNF699 HP_TRIANGULAR_MOUTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_MOUTH BAP1 BUB1B CHRNG COLQ DVL1 DVL3 ERCC2 GTPBP2 INPP5E KIF7 LAMB2 NCAPG2 NXN PIGA PPP1CB ROR2 SCN4A SNRPN TFAP2B WNT5A HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND BMP2 BMPR1B CANT1 CHST11 DDR2 GDF5 KCNH1 HP_TRICEPS_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICEPS_WEAKNESS ADSS1 AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 DYSF FBXO38 JAG1 LRP4 MFN2 MUSK POMT1 RAPSN SCN4A HP_TRICHILEMMOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICHILEMMOMA GJB2 GJB6 KLLN PTEN SEC23B HP_TRICHORRHEXIS_NODOSA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICHORRHEXIS_NODOSA AARS1 ASL CLCN6 ERCC2 GJA1 GTF2H5 HEPHL1 KDF1 KRT25 MPLKIP SKIC2 SKIC3 SPINK5 HP_TRICUSPID_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_ATRESIA ARVCF COMT GP1BB HIRA JMJD1C MYCN PLD1 RREB1 SEC24C TBX1 TMEM260 UFD1 HP_TRICUSPID_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_STENOSIS ADAMTSL2 CHST3 FBN1 MYCN PLD1 RPS19 HP_TRICUSPID_VALVE_PROLAPSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_VALVE_PROLAPSE CHST14 COL1A1 COL5A1 COL5A2 COX7B FBN1 FGFR1 FLNA HCCS KRAS NDUFB11 PCGF2 PLD1 HP_TRIGONOCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIGONOCEPHALY ACTB ACTG1 ADNP ARHGEF9 ASXL1 ASXL3 C2CD3 CD96 CHD4 DPF2 DPH1 DPH2 DPM1 DPM2 EFTUD2 FGFR1 FGFR2 FLCN FLI1 FREM1 FRMPD4 GLI3 GNPTAB GPC3 GPC4 GTF2H5 HUWE1 IFT140 IL11RA LMNB1 LMNB2 MEGF8 MSX2 MYSM1 NUP188 PDHX PLOD1 PPP3CA PTCH1 RB1 SLC6A9 SOX4 USP7 ZIC2 HP_TRIPHALANGEAL_THUMB https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIPHALANGEAL_THUMB ADA2 ATP6V1B2 BRCA1 BRCA2 BRIP1 CHN1 DACT1 DLX5 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGFR2 FGFR3 GATA1 GLI3 HEATR3 KCNN3 KIF7 LMBR1 MAD2L2 MAFB MSX2 PALB2 PIGB PIGF RAD51 RAD51C RFWD3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL1 SALL4 SF3B4 SHH SLX4 TBC1D24 TBX5 TP63 TSR2 TWIST1 UBE2T XRCC2 HP_TRISMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRISMUS CLPB COL2A1 CRLF1 EDNRA GBA1 HSPG2 IL6ST KCNC2 LIFR MYH8 MYMK PNKD PRRT2 SF3B4 TPM2 HP_TRITANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRITANOMALY C1QTNF5 DNM1L GUCY2D NR2E3 OPA1 OPA3 OPN1SW POC1B RBP4 HP_TROPHIC_CHANGES_RELATED_TO_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TROPHIC_CHANGES_RELATED_TO_PAIN ATL1 ATL3 NTRK1 SPTLC1 SPTLC2 HP_TRUE_HERMAPHRODITISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUE_HERMAPHRODITISM B9D1 B9D2 CC2D2A CEP290 CSPP1 MKS1 NR5A1 RPGRIP1 RPGRIP1L SOX9 SRY TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WT1 HP_TRUNCAL_ATAXIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_ATAXIA ABCD1 ADGRG1 ANO10 AP2M1 APTX ATCAY ATG5 ATN1 ATP1A3 ATP2B3 ATP8A2 ATXN1 ATXN3 BCL11A CACNA1A CACNB4 CEP120 CERS1 CLN5 COG5 COX6B1 CWF19L1 CYP7B1 DAB1 DARS2 DOHH EBF3 EEF2 EIF2AK2 FGF14 GBA2 GRID2 HARS1 HIBCH ITPR1 KCND3 KCTD7 LRPPRC MAST1 MECP2 MSTO1 MT-TN MT-TS1 NAT8L NDUFA13 NKX6-2 NOP56 OPA1 PEX10 PIGA POLG POLR3A PPP1R15B PRNP RNU12 SACS SDHA SHMT2 SLC1A3 SLC25A15 SLC30A10 SLC52A3 SLC9A6 SPTBN2 STUB1 SURF1 SYT14 TPK1 TRAPPC11 TTBK2 TTR UROC1 VLDLR VPS13D VPS41 VWA3B WDR81 HP_TRUNCAL_OBESITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_OBESITY ADNP AKT2 ALMS1 ARL6 ATRX BBS1 BBS9 BPTF BRAF BRD4 CCDC28B CDH23 CFAP410 CREBBP DLK1 DYRK1B EP300 FMR1 GHR GJA5 GJA8 GNAS HDAC8 IGF1 IGF1R IGFALS INPP5E LAS1L MAN1B1 MC4R MEG3 NIPBL NR3C1 PCNT PCSK1 PDE11A PHF6 PIGA POMC PRKAR1A PSMD12 RAD21 RNPC3 RTL1 SLC10A7 SLC7A7 SMC1A SMC3 THOC2 TP53 TRAPPC9 USP48 USP8 VPS13B WAC XRCC4 XYLT1 ZBTB20 HP_TRUNCAL_TITUBATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_TITUBATION ACBD5 BRAT1 FLVCR1 HYCC1 ITPR1 SLC19A3 THG1L TPP1 HP_TRUNCUS_ARTERIOSUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCUS_ARTERIOSUS ARVCF BCR COMT CRKL DLL4 GATA6 GJA5 GJA8 GP1BB HIRA ITPR1 JMJD1C MAPK1 NEK8 NKX2-5 NKX2-6 PLXND1 PSMD12 PUF60 RREB1 SEC24C STRA6 TBX1 TMEM260 UFD1 HP_TUBE_FEEDING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBE_FEEDING AASS ABCD1 ACSF3 ACTA1 ADNP AFF4 ALG12 ALG2 ALS2 ANAPC1 ASPA ASXL3 B3GALT6 BLM BRAF BSND C2CD3 CAMLG CARS2 CDC42BPB CDON CLCN6 CLCNKA CLCNKB CLN8 CLPB CLTCL1 COG5 COL2A1 COL4A5 COL4A6 COL7A1 COX8A CREBBP CTCF DALRD3 DCHS1 DEGS1 DISP1 DLK1 DLL1 DNM1 DNM1L DPM1 DPM2 DTYMK DYRK1A EDEM3 EN1 EP300 EPM2A EPRS1 FAT4 FBP2 FDFT1 FGF8 FGFR1 FOXH1 FOXP2 FOXP3 FUS GALC GAS1 GFM2 GLI2 GNB2 GNPTAB GNS GPT2 GRIN1 GRM7 HACD1 HECW2 HERC2 HNRNPK IDH1 ITCH ITGA7 KANSL1 KCNK9 KCNQ5 KIAA0753 KLHL40 KNSTRN KRT14 KRT5 LAMB2 LONP1 LRPPRC MAGEL2 MAP3K20 MECP2 MEG3 MFF MGAT2 MKRN3 MOGS MPDU1 MT-TE MTM1 MTRFR MYL1 MYL2 MYO1H NAA10 NACC1 NALCN NHLRC1 NODAL NONO NPAP1 NRCAM PACS1 PDE10A PDHA1 PGAP1 PGAP2 PGAP3 PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3CD PLCH1 PLP1 PNPT1 PPP2R1A PRPS1 PSAP PSAT1 PSMC1 PTCD3 PTCH1 PTPN23 PUF60 PWAR1 PWRN1 RALGAPA1 RAPSN RECQL4 RNF13 RTL1 SATB2 SCN1A SCN3A SCN4A SELENON SEPSECS SETBP1 SHH SIGMAR1 SIM1 SIX3 SLC1A4 SLC35A2 SLC5A6 SMC1A SNORD115-1 SNORD116-1 SNRPN SON SPATA5 SPG11 SPOP SPTBN4 SPTLC1 SRCAP STAG2 STIL SYNE1 TBCK TCEAL1 TDGF1 TFG TGIF1 TOM1 TOR1A TP63 TPM2 TPM3 TRAPPC12 TRIO TRIP4 TRMU TSEN15 TSEN2 TSEN34 TSEN54 TXN2 UBTF UGDH UNC80 VPS50 WAC WDR26 YARS1 YY1 ZIC2 ZNF699 HP_TUBULOINTERSTITIAL_NEPHRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBULOINTERSTITIAL_NEPHRITIS ALMS1 BCS1L BTNL2 CEP83 CLCNKB CPT2 DPH1 DPH2 FAN1 FOXC2 FOXP3 HLA-DRB1 IFT122 INVS MMUT MRPL3 MUC1 PUS3 SLC12A3 SLC30A9 SLC7A7 TRAF3IP1 WDR19 HP_TURRICEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TURRICEPHALY ACP5 ALG14 AP1G1 ARVCF COMT CRTAP ERF FAM20C FERMT1 FGFR1 FGFR2 FGFR3 FHL1 GJA5 GJA8 GP1BB GPX4 HIRA IL11RA JMJD1C KDM4B MEGF8 MN1 MSX2 P4HB PEX1 PEX5 POR RAB23 RECQL4 RREB1 SEC24C SEC24D SKI SLC12A6 SLC25A24 SOX6 SP7 SYT1 TBX1 TRIP11 TRPM3 TWIST1 UFD1 ZIC1 HP_TYPE_1_MUSCLE_FIBER_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_ATROPHY ACTA1 ALG14 EMD FHL1 HACD1 HNRNPK ITGA7 LMNA MAP3K20 MYL2 RYR1 SELENON SPTBN4 SYNE1 SYNE2 TMEM43 TPM2 TPM3 HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE ACTA1 ACTN2 AGRN AGTPBP1 AK9 ALG14 ALG2 BIN1 CAV3 CCDC78 CFL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COL6A1 COL6A2 COL6A3 COLQ DNM2 DOK7 DPAGT1 FKBP14 FXR1 GARS1 GDAP1 GFPT1 GMPPB GYG1 KBTBD13 KCNA1 KLHL40 KLHL41 LAMB2 LMOD3 LRP4 MAP3K20 MB MTMR14 MUSK MYF6 MYH2 MYH7 MYL1 MYPN NEB PNPT1 POMT1 RAPSN RYR1 RYR3 SCN4A SELENON SGCG SLC25A12 SMN1 SPEG STIM1 TNNC2 TNNT1 TPM2 TPM3 TTN UNC45B VCP HP_TYPE_2_MUSCLE_FIBER_ATROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_ATROPHY ALG14 CASQ1 CHAT CHRNA1 CHRNE CNBP COLQ GFPT1 LAMB2 LPIN1 MT-CO1 MT-CO3 OBSCN ORAI1 PNPT1 SARS2 SPTBN4 STIM1 HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE ALG14 CLCN6 COQ5 DYNC1H1 FBXL4 KY OBSCN POLRMT HP_TYPE_E_BRACHYDACTYLY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_E_BRACHYDACTYLY COL2A1 HDAC4 HOXD13 PDE3A PTHLH HP_TYPE_II_DIABETES_MELLITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_DIABETES_MELLITUS ABCA4 ABCC8 AGBL5 AHI1 AHR AIP AKT2 ALMS1 AMACR AR ARHGEF18 ARL2BP ARL3 ARL6 ATM BAZ1B BBS1 BBS2 BCL7B BEST1 BLM BMP6 BRAF BSCL2 BUD23 CA4 CARS1 CAT CC2D2A CDHR1 CELA2A CEP19 CERKL CFAP418 CLCNKB CLIP2 CLRN1 CNBP CNGA1 CNGB1 CPE CRB1 CRX CTNNB1 CTRC CYP19A1 DHDDS DHX38 DMXL2 DNAJC30 DNMT1 DYRK1B EIF4H ELN ENPP1 EYS FAM161A FBN1 FKBP6 FSCN2 GCGR GCK GLRX5 GPD2 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B HERC2 HGSNAT HMGA1 HNF1A HNF1B HNF4A IDH3A IDH3B IFT140 IFT172 IFT88 IGF2BP2 IL6 IMPDH1 IMPG1 IMPG2 INSR IRS1 IRS2 KCNJ11 KIAA1549 KIZ KLF11 KLHL7 LIG4 LIMK1 LIPC LMF1 LMNA LRAT LRP6 MAFA MAGEL2 MAK MAPK8IP1 MC4R MEN1 MERTK METTL27 MKRN3 MLXIPL MOG MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTNR1B NCF1 NEK2 NEUROD1 NPAP1 NR2E3 NRL OFD1 PAX4 PCARE PCNT PDE6A PDE6B PDE6G PDX1 PEX10 PLCD1 PNPLA6 POLA1 POLR3A POMGNT1 PPARG PPP1R3A PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTPN1 PWAR1 PWRN1 RBP3 RDH12 REEP6 RETN RFC2 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SIM1 SIN3A SLC12A3 SLC2A2 SLC30A8 SLC7A14 SNORD115-1 SNORD116-1 SNRNP200 SPATA7 SPINK1 STUB1 STX1A TBL2 TCF7L2 THRB TMEM270 TOPORS TTC8 TUB TULP1 USH2A VPS37D WFS1 WRN XRCC4 ZNF408 ZNF513 HP_TYPE_II_LISSENCEPHALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_LISSENCEPHALY B3GALNT2 B4GAT1 CRPPA FKRP FKTN GMPPB LAMB1 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TMTC3 TUBB3 HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE ATP6AP1 ATP6AP2 B4GALT1 CAMLG COG1 COG4 COG5 COG6 COG7 COG8 GET4 MAN1B1 MGAT2 SLC37A4 SLC39A8 HP_TYPE_I_DIABETES_MELLITUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_DIABETES_MELLITUS ABCC8 ADA2 AIRE CAT CAV1 CLCNKB CNOT1 CORIN CTLA4 DMXL2 DNAJC3 DNASE2 DUT EDA EDA2R EIF2AK3 FLT1 FOXP3 GCK GFM2 GOSR2 GPR35 HLA-DQA1 HLA-DQB1 HNF1A IL18BP IL2RA INS ITCH KCNJ11 KCTD1 LRBA MIA3 MMP14 MMP2 MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TE MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NAF1 NEUROG3 PI4KA PSTPIP1 SEMA4D SLC12A3 SLC29A3 SLC37A4 SPI1 STAT1 STAT3 STOX1 STUB1 TCF4 TKT TLR8 TOM1 TTC7A HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAGT1 MPDU1 MPI PMM2 RFT1 SRD5A3 SSR4 HP_TYPICALLY_DE_NOVO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICALLY_DE_NOVO ATN1 ATP11A CHD8 EIF2AK1 GNB2 KMT2C MAPK1 PIK3CA PIK3R2 POLR2A SEMA6B ZBTB7A HP_TYPICAL_ABSENCE_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICAL_ABSENCE_SEIZURE ADGRG1 ADNP ALDH4A1 ALDH7A1 ALMS1 ASAH1 CACNA1H CACNB4 COL3A1 DPM1 DYRK1A EEF1A2 FBXO28 FRRS1L FZR1 GABRA1 GABRB3 GABRG2 GRIN1 GRIN2A HNRNPK JRK PLPBP PRMT7 PTEN SATB2 SLC2A1 WAC HP_TYPIFIED_BY_INCOMPLETE_PENETRANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPIFIED_BY_INCOMPLETE_PENETRANCE ACTN4 ANO3 ATL1 ATP1A2 ATP1A3 ATXN10 BMPR2 BRCA2 CACNA1A CACNA1S CACNB4 CAV1 CDH23 CFC1 CHRNA2 CHRNA4 CHRNA7 CILK1 CLCN2 COL4A1 COL4A2 CPOX CRELD1 CTLA4 CTNNB1 DCC DCX DDX41 DEPDC5 DLST DLX5 DSTYK ELOVL4 ELP1 EPHB4 ERBB3 EYA1 FGF23 FGFR1 FH FLCN FMR1 FOXE3 GABRB3 GABRG2 GATA5 GJA5 GJA8 GJB1 GJC2 GLI2 GPR161 GREB1L GRIN2A HCN1 HNRNPDL IFIH1 IKZF1 INAVA JAG1 KIF11 KIF1B KIF5A KLF13 KMT2B KRIT1 LRP5 LRRK2 LRSAM1 LZTR1 MET MFN2 MN1 MNX1 MSH6 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NF2 NLRP12 NPRL2 NPRL3 NR5A1 NRIP1 NRL OPA1 OTULIN PARN PAX2 PDGFB PITX1 PKD2 POT1 PRCC PRKCG PROK2 PROKR2 PRPF31 PRPF8 PRRT2 PTCH1 PTCH2 PTEN PUM1 RAD51 RANBP2 RBM12 RELN RORB RPS29 RTEL1 SCN1B SCN4A SDHB SGCE SHH SIX1 SIX3 SLC12A5 SLC2A1 SMAD6 SMAD9 SMARCB1 SMARCC1 SMARCE1 STAT1 SUFU TBK1 TENM4 TERC TERT THAP1 TICAM1 TLR3 TM4SF20 TMEM151A TOR1A TRPV4 TTN UCHL1 USP48 VMA21 VWF WNT10B HP_TYPIFIED_BY_SOMATIC_MOSAICISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPIFIED_BY_SOMATIC_MOSAICISM ABL1 ACVR1B ADA AIP AKT1 APC AR ARHGAP26 ARMC5 ASCC1 ASPSCR1 ASXL1 ATM AURKA AXIN1 AXIN2 BARD1 BAX BCL10 BCR BRAF BRCA1 BRCA2 BRIP1 BUB1 BUB1B C1GALT1C1 CALR CASP10 CASP8 CBL CCND1 CDC73 CDH1 CEBPA CHEK2 CHIC2 CREB1 CTHRC1 CTNNB1 CYP2A6 DCC DICER1 DLC1 DNMT3A EGFR ELP1 EP300 ERBB2 ERCC6 ESR1 ETV6 EWSR1 EXT1 FASLG FGFR1 FGFR2 FGFR3 FLCN FLT3 FOXO1 GATA2 GNAI2 GNAS GNB1 GPC3 GPC4 GPR161 H19 HDAC4 HMMR HRAS IDH1 IGF2 IGF2R IL1B IL1RN IL6 IL6ST IRF1 JAK2 KIF1B KIT KLF6 KRAS LIG4 LPP LZTS1 MAD1L1 MAP3K8 MCC MET MINPP1 MLH3 MLLT10 MPL MSH3 MSH6 MSR1 MTOR MUTYH MXI1 MYC MYD88 NBN NEK9 NF1 NPM1 NQO2 NR4A3 NRAS NUMA1 NUP214 OPCML PAX3 PAX6 PAX7 PDGFRA PDGFRL PHB1 PICALM PIGA PIGT PIK3CA PLA2G2A PLAG1 POU6F2 PPM1D PPP2R1B PRCC PRKN PTCH2 PTEN PTPN11 PTPN12 PTPRJ RAD51 RAD54B RAD54L RARA RB1 RB1CC1 RHOA RNF6 RPS14 RUNX1 SF3B1 SH2B3 SH3GL1 SLC22A18 SLC35A2 SMAD4 SMARCB1 SMO SRC SRGAP1 SSX2 STK11 SUFU TAF15 TAL1 TAL2 TERT TET2 TFE3 TGFBR2 TLR2 TP53 TSC1 TSC2 UBA1 WT1 WWOX XRCC3 ZFHX3 HP_T_CELL_LYMPHOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_CELL_LYMPHOMA CASP10 CD28 CTLA4 FAS FASLG HAVCR2 MLH1 MSH6 NBN POLE PRKCD RASGRP1 TNFRSF1B TTC7A HP_T_LYMPHOCYTOPENIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_LYMPHOCYTOPENIA ACP5 ADA ATM BCL11B BTK CASP10 CD247 CD3D CD3G CD8A CIITA DNMT3B DOCK2 DOCK8 EPG5 EXTL3 FAS FASLG FCHO1 FOXN1 IKBKB IL2RA IL2RG IL7 IL7R ITK IVNS1ABP JAK3 KNSTRN LCK LEP LEPR MAGT1 MCM10 MYC MYD88 NBN NHEJ1 NSMCE3 PGM3 PIK3CD PIK3CG PRKCD PRKDC PTPRC RAC2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RIPK1 SASH3 SP110 STAT1 SYK TBX2 TOM1 UNC119 WAS WIPF1 ZAP70 HP_T_WAVE_INVERSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_WAVE_INVERSION CLN3 GYG1 JUP MYL2 MYL3 PRKAG2 HP_ULCERATIVE_COLITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULCERATIVE_COLITIS BACH2 CARD11 CYBC1 GPR35 IL37 IL6 INAVA MAP3K7 MASP2 MST1 NOD2 PLCG2 SEMA4D SLC37A4 TCF4 WAS HP_ULNAR_BOWING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_BOWING CHST3 COL11A1 FGFR2 FGFR3 FLNA HOXA11 IFT43 LAMA5 MMP13 PCNT POR PRKG2 RBM8A RECQL4 RIPK4 SCARF2 SHOX SLC26A2 VPS35L HP_ULNAR_CLAW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_CLAW EGR2 GDAP1 HSPB1 MPV17 MPZ NEFL PMP22 PRX SBF2 HP_ULNAR_DEVIATION_OF_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_FINGER ANKRD11 BCR BMP2 BMPR1B CD96 CHRNG COG1 CRKL DACT1 DHCR7 FBN2 GDF5 HOXA13 HOXD13 HRAS LIFR MAPK1 MYBPC1 MYH3 MYMK MYMX NALCN PAX3 PTRH2 RAB3GAP1 RAB3GAP2 SALL1 SHOX SLC26A2 TBX22 TGDS TNNI2 TNNT3 TPM2 WNT7A HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER ANKRD11 BMP2 BMPR1B GDF5 HOXA13 PTRH2 TGDS HP_ULNAR_DEVIATION_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND ADGRG6 ALG9 ASXL3 B9D2 BICD2 CILK1 COL9A1 COL9A2 COL9A3 COMP DPYSL5 FAT4 FLNA FRA10AC1 LAMA5 LBR MAFB MAN2C1 MAP3K7 MED12 MUSK MYH3 PAX3 PCDHGC4 PEX1 RBM28 RBM8A RYR3 SLC26A2 SPART ZEB2 HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND ADGRG6 ALG9 ANKRD11 ASXL3 B9D2 BCR BICD2 BMP2 BMPR1B CD96 CHRNG CILK1 COG1 COL9A1 COL9A2 COL9A3 COMP CRKL DACT1 DHCR7 DPYSL5 FAT4 FBN2 FLNA FRA10AC1 GDF5 HOXA13 HOXD13 HRAS LAMA5 LBR LIFR MAFB MAN2C1 MAP3K7 MAPK1 MED12 MUSK MYBPC1 MYH3 MYMK MYMX NALCN PAX3 PCDHGC4 PEX1 PIEZO2 PTRH2 RAB3GAP1 RAB3GAP2 RBM28 RBM8A RYR3 SALL1 SHOX SLC26A2 SPART TBX22 TGDS TNNI2 TNNT3 TPM2 WNT7A ZEB2 HP_ULNAR_DEVIATION_OF_THE_WRIST https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_WRIST ALG12 ASAH1 ASXL1 COMP DLK1 FLNB GALNS GLB1 KIDINS220 MEG3 MYH3 NALCN PAX3 POR RAC3 RTL1 SIK3 TNNI2 TNNT3 TPM2 HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT CFAP53 DNAH9 PKD1L1 PLXND1 SMAD2 TTC26 HP_UNCOMBABLE_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCOMBABLE_HAIR HRURF PADI3 SKIC2 SKIC3 TCHH TGM3 TP63 HP_UNCONJUGATED_HYPERBILIRUBINEMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONJUGATED_HYPERBILIRUBINEMIA CASK FARSB G6PD GATA1 HBB KLF1 KMT2D NHLRC2 PIGA PKLR RHAG SLC10A1 SLC30A10 UGT1A1 UROS HP_UNCONTROLLED_EYE_MOVEMENTS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONTROLLED_EYE_MOVEMENTS ADORA2A CACNA1H GABRA1 GABRB3 GABRG2 JRK POMGNT1 SLC2A1 HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES ANTXR1 BRAF CITED2 ESCO2 FGFR2 FGFR3 FLT4 GATA4 GATA5 GATA6 GDF1 GHR GJA5 HBA1 HBA2 JAG1 KDR KIF11 KNSTRN KRAS LIG4 LZTR1 MAP2K1 MAP2K2 MASP1 MEGF8 MYOD1 NEU1 NKX2-5 NKX2-6 NSUN2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CD PPP1R21 PRMT7 PTCH1 RAB23 RBM10 SIK3 SKIC3 SLC25A24 SOX11 SPOP TBX1 TCF12 TRAPPC9 TWIST1 ZFPM2 ZIC1 HP_UNDERFOLDED_HELIX https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERFOLDED_HELIX COL2A1 FN1 RECQL4 SCNM1 SLC16A2 SLC6A8 TMEM94 HP_UNDETECTABLE_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_ELECTRORETINOGRAM CC2D2A CLCC1 CLN3 CLN8 CRB1 CRX EYS FLVCR1 HSD17B4 IFT140 KIZ LCA5 LRAT MYO7A NMNAT1 NR2E3 NRL PDE6D POMGNT1 PPT1 PRCD PROM1 RPE65 RPGRIP1 SPATA7 TPP1 TULP1 USH1C HP_UNDETECTABLE_LIGHT_ADAPTED_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_ADAPTED_ELECTRORETINOGRAM ATF6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM ADAR AIPL1 CERKL CLRN1 IMPDH1 MT-ATP6 NR2E3 NUP54 NUP62 PCYT1A RP1 RP9 RPE65 RPGRIP1 HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS ATP1A3 COX6B1 MPDU1 NDUFS4 OSTM1 PRPS1 RAB3GAP2 RDH11 ZNHIT3 HP_UNEXPLAINED_FEVERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNEXPLAINED_FEVERS ADAR AQP2 AVPR2 CRLS1 GALC IFIH1 LAMA3 LAMB3 LAMC2 LSM11 NKX2-1 NTRK1 PSAP RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TMEM165 TREX1 HP_UNICORONAL_SYNOSTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNICORONAL_SYNOSTOSIS CEP120 MSX2 PIGO SMO TCF12 TWIST1 ZEB2 HP_UNILATERAL_CLEFT_LIP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_LIP GDF11 HYLS1 KAT5 KIF7 MED12 MID1 PTCH1 SMAD4 SUMO1 TAPT1 HP_UNILATERAL_CLEFT_PALATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_PALATE ARHGAP29 ARHGEF38 ASXL1 BMP4 CDH1 CDH11 COBLL1 DLG1 DLX4 GDF11 IRF6 KAT5 MED12 MSX1 NECTIN1 PDGFRA PTCH1 RIC1 SUMO1 TP63 HP_UNILATERAL_CRYPTORCHIDISM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CRYPTORCHIDISM ADARB1 DDX59 IGF2 INSL3 KMT5B MYRF NFIB NFIX RNF135 SIN3A SMOC1 SRY TSR2 XYLT2 HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE COL25A1 RHOA SMARCA2 TBL1XR1 ZFHX4 HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS DGCR2 DGCR6 DGCR8 ESS2 TBX1 HP_UNILATERAL_PTOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PTOSIS ANAPC7 CAPN15 COL25A1 DDX59 GPC4 HEATR3 HOXB1 MED12L MID2 PUF60 SMC1A SMS WDR35 ZFHX4 HP_UNILATERAL_RENAL_AGENESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_RENAL_AGENESIS ALDH18A1 ALKBH8 ANKLE2 ANKRD17 ANOS1 ASPM ASXL2 ATN1 CDC42 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CIT COG6 COPB2 CTU2 DHCR7 DSTYK DYRK1A ELN ERCC6 ERCC8 EYA1 FANCL FBLN5 FREM1 FREM2 GATA3 GDF6 GLI3 GNB2 H4C9 HNF1B HS2ST1 IDH1 KCTD1 KIF14 KNL1 KNSTRN KYNU LMBRD1 MBTPS2 MCM7 MCPH1 METTL5 MFSD2A NADSYN1 NCAPD3 NSDHL NUP37 PBX1 PHC1 PIK3CD POR PPFIBP1 PPP2R1A PPP2R3C PRKAR1A PROKR2 PTPN11 PUF60 PYCR2 ROBO1 RPL26 RTTN SARS1 SASS6 SF3B4 SIX1 SON STIL STS TAF13 TBX1 TBXT THOC6 TMCO1 TMEM67 TNXB TRAPPC10 TRAPPC14 TRPV6 TXNL4A WARS1 WBP11 WDR62 WNT4 XRCC4 HP_UNILATERAL_RENAL_HYPOPLASIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_RENAL_HYPOPLASIA C2CD3 H4C5 HRAS MCM5 PLXNA1 HP_UNSTEADY_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNSTEADY_GAIT AARS1 ACTL6B ADSS1 AIFM1 ALDH4A1 AP2M1 AP3B2 ARV1 ATP1A2 ATP1A3 ATP2B3 ATP6AP2 ATP6V1A ATP7A ATXN10 ATXN2 ATXN8OS BCL11B BSCL2 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2A CAMTA1 CCDC88C CDK19 CELF2 CEP104 CHD2 CHD3 CIZ1 CLCN4 CLN5 CLN8 CLTC CNKSR2 CRAT CREBBP CWF19L1 CYFIP2 CYP2U1 DAB1 DAG1 DALRD3 DARS2 DCC DDHD1 DEAF1 DHDDS DHPS DHX16 DNM1 DOCK3 DPM3 EEF1A2 EIF2B1 EIF2B2 EIF2B4 EP300 ERCC6 ERCC8 EXT2 FBXO28 FGD4 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAN GARS1 GDAP1 GJB1 GLRX5 GRIN2D HACE1 HCN1 HERC2 HPDL HTT KCNA2 KCNB1 KCNQ5 KDM5B KIF1A KIF1C KPNA3 LCA5 LRAT MAPK8IP3 MAPT MAST1 MATR3 MCM3AP MGAT2 MME MPZ MRE11 MTFMT NAT8L NDRG1 NDUFA1 NECAP1 NEFL NEXMIF NF2 NTRK2 NUDT2 NUS1 OGDH OPA1 OPA3 P4HTM PACS1 PACS2 PAK1 PARS2 PCNA PDE10A PDHX PEX1 PEX10 PEX16 PEX2 PITRM1 PLA2G6 PMP22 PMPCA PNPO POU4F1 PPP2R2B PPP2R5D PPP3CA PRKRA PRNP QRICH1 REEP1 RNASEH1 RNF170 RPE65 RUBCN RUSC2 SACS SAMD9L SCARB2 SCN1A SCN3A SCN8A SDHA SGCA SHANK3 SLC13A5 SLC1A2 SLC2A1 SLC38A3 SLC6A1 SLITRK2 SMS SPATA7 SPTBN2 STAG2 STUB1 SUCLG1 SYNGAP1 SYNJ1 SYT14 SZT2 TPI1 TPP1 TRAK1 TRPC3 UBA5 VAC14 VPS13D VPS41 VWA3B WARS1 WLS WWOX XRCC1 XYLT2 YWHAG ZSWIM6 HP_UNUSUAL_FUNGAL_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_FUNGAL_INFECTION ADA AIRE AP3B1 ATR ATRX BRAF BTD C1QB CARD11 CARD9 CARMIL2 CD247 CD3D CD3E CD3G CD40LG CDH23 CEACAM3 CEACAM6 CFTR CIITA CLCA4 CLEC7A CORO1A CTLA4 CYBA CYBB CYBC1 DCLRE1C DCTN4 DEF6 DOCK2 DOCK8 EDNRA EPG5 GATA2 GCLC GJB2 GJB6 GSTM3 HFE HMOX1 HPGD IKBKB IKBKG IKZF1 IL12A IL12RB1 IL17F IL17RA IL17RC IL21R IL2RA IL2RG IL6ST IL7R IRF5 ITGB2 JAK3 KCNN4 KNSTRN KRT1 LCK MIF MMEL1 MVK NCF1 NCF2 NFKB2 NFKBIA NR3C1 PGM3 PIK3CD PLCG2 POU2AF1 RAG1 RAG2 RFX5 RFXANK RFXAP RORC SDR9C7 SERPINA1 SLC11A1 SLC26A9 SLC39A4 SLC6A14 SLC9A3 SP110 SPIB SREBF1 STAT1 STAT3 STK4 STX1A TFRC TGFB1 TLR8 TNFSF15 TNPO3 TOM1 TP53 TRAC TRAF3IP2 TYK2 USP48 USP8 WDR1 ZAP70 ZBTB24 ZNF341 HP_UNUSUAL_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION A2ML1 AARS1 AASS ABCA12 ACP5 ACTA1 ACTC1 ACVRL1 ADA ADA2 ADAM17 ADAMTS3 ADAT3 ADNP ADORA2A AGA AGR2 AGRN AGXT AICDA AIRE AK2 AKT1 ALB ALDH18A1 ALDH1A2 ALG1 ALG12 ALG13 ALG3 ALG5 ALG9 ALMS1 ALOX12B ALOXE3 ALPL ANAPC1 ANKRD17 ANTXR2 AP3B1 AP3D1 APRT ARHGAP29 ARHGEF1 ARHGEF38 ARID1A ARID1B ARID2 ARL2BP ARL3 ARPC1B ARSB ARSL ASAH1 ASPRV1 ASXL1 ASXL3 ATM ATN1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP7A ATR ATRX B2M B3GALT6 BACH2 BAP1 BAZ1B BCHE BCL10 BCL11A BCL11B BCL2 BCL6 BCL7B BCOR BCR BICC1 BIRC3 BLM BLNK BMP4 BNC2 BPTF BRAF BRCA1 BRCA2 BRIP1 BTD BTK BUD23 C1QA C1QB C1QC C1R C3 C4A C4B C5 C6 C7 C8A C8B CACNA1B CACNA1C CARD10 CARD11 CARD9 CARMIL2 CARS1 CASP8 CAVIN1 CCBE1 CCDC103 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCNO CCR1 CD19 CD247 CD27 CD3D CD3E CD3G CD4 CD40 CD40LG CD55 CD70 CD79A CD79B CD81 CD8A CDC42 CDC42BPB CDCA7 CDH1 CDH23 CEACAM3 CEACAM6 CEBPE CFAP221 CFAP298 CFAP300 CFAP410 CFAP52 CFAP74 CFB CFD CFH CFI CFTR CHAMP1 CHAT CHRM3 CHRNA3 CIITA CISD2 CITED2 CLCA4 CLCN7 CLDN16 CLDN19 CLEC7A CLIP2 CLPB CLTRN COBLL1 COG1 COG4 COG6 COG7 COL11A1 COL11A2 COL13A1 COL2A1 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLQ CORIN CORO1A CPLX1 CPSF3 CR2 CREBBP CRIPT CRKL CSF3R CSPP1 CTBP1 CTC1 CTCF CTLA4 CTNNB1 CTNNBL1 CTPS1 CTSC CXCR2 CXCR4 CYBA CYBB CYBC1 CYP4F22 DBR1 DCLRE1C DCTN4 DDB1 DDOST DDR2 DDX59 DDX6 DEAF1 DEF6 DGCR2 DGCR6 DGCR8 DHCR7 DIAPH1 DIP2B DISC1 DKC1 DLG1 DLK1 DLL3 DLX4 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC21 DNAJC30 DNAL1 DNASE1L3 DNASE2 DNMT3B DOCK2 DOCK8 DOHH DPF2 DPM2 DPP9 DPYSL5 DRC1 DSG1 DYM DYNC2I2 DYRK1A DZIP1L ECM1 EDARADD EDNRA EFEMP2 EFL1 EGFR EHMT1 EIF2AK3 EIF4H ELANE ELF4 ELN ELP1 EN1 ENG EOMES EP300 EPG5 EPHB4 ERAP1 ERCC2 ERCC3 ERCC4 ERCC6 ERF ESS2 EXOSC9 EXT1 EXTL3 EYA4 FADD FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FAS FAT4 FBLN5 FBXL4 FBXO11 FBXO28 FBXW7 FCGR2A FCGR3A FCGR3B FCHO1 FCN3 FCSK FERMT3 FGFR3 FHL1 FIP1L1 FKBP6 FLI1 FLNA FLNC FLT1 FLVCR1 FMO3 FMR1 FOCAD FOXC2 FOXJ1 FOXN1 FOXP1 FOXP2 FOXP3 FUCA1 FUT8 FZD2 G6PC3 GAA GALC GALNS GANAB GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA6 GBA1 GCLC GEMIN4 GFI1 GFM2 GIMAP5 GINS1 GJB2 GJB6 GLB1 GLI3 GLIS3 GLRA2 GLUL GMNN GNB2 GNPTAB GNS GORAB GOT2 GPR35 GRHL3 GRHPR GRIA1 GRIA3 GRM7 GSTM3 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H4C3 H4C5 HACD1 HAX1 HBB HBG1 HBG2 HCK HELLS HEPHL1 HERC2 HFE HGSNAT HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMOX1 HOXA13 HPGD HPS6 HPSE2 HSPA9 HYAL1 HYDIN HYOU1 IARS1 ICOS IDH1 IDS IDUA IER3IP1 IFIH1 IFNAR1 IFNAR2 IFNG IFNGR1 IFNGR2 IFT122 IFT140 IGBP1 IGHG2 IGHM IGKC IGLL1 IKBKB IKBKG IKZF1 IKZF3 IL10 IL10RA IL10RB IL12A IL12A-AS1 IL12B IL12RB1 IL17F IL17RA IL17RC IL21 IL21R IL23R IL2RA IL2RB IL2RG IL6R IL6ST IL7 IL7R INPPL1 INSR IRAK4 IRF2BP2 IRF3 IRF4 IRF5 IRF6 IRF7 IRF8 IRF9 ISG15 ISL1 ITCH ITGA3 ITGA7 ITGB2 ITK IVNS1ABP JAGN1 JAK1 JAK3 KANSL1 KAT5 KAT6A KAT6B KATNIP KCNJ6 KCNN4 KCTD1 KDM5C KDM6A KIAA0586 KIF15 KIF1A KIF20A KLF1 KLRC4 KMT2A KMT2B KMT2C KMT2D KMT5B KNSTRN KPTN KRAS KRT1 KRT14 KRT5 L2HGDH LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMTOR2 LAT LBR LCK LCP2 LEP LEPR LETM1 LIFR LIG1 LIG3 LIG4 LIMK1 LIPN LMBRD1 LMNB1 LMNB2 LONP1 LRBA LRIG2 LRRC56 LRRC8A LTBP1 LTBP4 LYST MAD2L2 MAGEL2 MAGT1 MALT1 MAN2B1 MANBA MAP3K20 MAP3K7 MAPK1 MASP2 MBD5 MBL2 MBTPS2 MC2R MCIDAS MCM10 MCM4 MDFIC MDM4 MECP2 MED12 MED13L MED25 MEFV MEG3 MEGF10 MESP2 METTL27 MGAT2 MGME1 MGP MIF MINPP1 MIR140 MKRN3 MLXIPL MMEL1 MNS1 MNX1 MPEG1 MPLKIP MRAP MRTFA MS4A1 MSN MST1 MSX1 MTHFD1 MTM1 MVK MYD88 MYH11 MYH3 MYH6 MYL2 MYL9 MYO5A MYO9A MYPN MYSM1 NAA10 NABP1 NAE1 NAGLU NBEA NBN NCF1 NCF2 NCF4 NCKAP1L NDE1 NDN NDUFC2 NECTIN1 NEK10 NELFA NEPRO NFASC NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NGLY1 NHEJ1 NHLRC2 NHP2 NIPAL4 NKX2-1 NKX2-5 NLRC4 NLRP3 NME5 NME8 NNT NOP10 NOTCH2 NPAP1 NPHS1 NPM1 NR3C1 NRAS NSD2 NSUN2 NTRK1 NUMA1 NUP214 NXN OAS1 OCA2 OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 ORAI1 ORC6 OTULIN P4HA2 P4HTM PAK2 PALB2 PARN PCGF2 PCNT PCYT1A PDGFRA PDHA1 PEPD PET117 PEX5 PGM1 PGM3 PHIP PHKA2 PHKB PHKG2 PI4KA PIGG PIGU PIK3CD PIK3CG PIK3R1 PKD1 PKD2 PKHD1 PKP1 PLCG2 PLEC PLEKHM1 PLG PLOD1 PLP1 PLVAP PML PNP POGZ POLA1 POLE POLR2A POLR3A POLR3F POLR3GL POMP POU2AF1 PPM1D PPP1R21 PRF1 PRIM1 PRKAR1A PRKAR1B PRKCD PRKDC PRMT7 PRPS1 PRTN3 PSAP PSEN1 PSENEN PSMB4 PSMB8 PSMB9 PSMD12 PTEN PTPN22 PURA PWAR1 PWRN1 PYROXD1 RAB27A RAB3GAP2 RAC1 RAC2 RAD21 RAD51 RAD51C RAG1 RAG2 RALGAPA1 RARA RASGRP1 RBCK1 RECQL REEP1 REL RELA RELB RFC2 RFT1 RFWD3 RFX5 RFX7 RFXANK RFXAP RIC1 RIPK1 RMRP RNF113A RNF125 RNF168 RNF2 RNU4ATAC RNU7-1 ROR2 RORC RPGR RPL10 RPL11 RPS14 RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTL1 RUNX2 RYR1 SAMD9 SAMD9L SASH3 SATB1 SBDS SCN10A SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDCCAG8 SDR9C7 SEC61A1 SELENON SEMA4D SEPSECS SERAC1 SERPINA1 SERPINH1 SETBP1 SETD1A SETD2 SF3B1 SFTPC SGSH SH2D1A SH3KBP1 SHANK3 SHROOM4 SIAH1 SIK1 SIM1 SIN3A SKIC2 SKIC3 SLC11A1 SLC18A3 SLC1A4 SLC25A1 SLC25A22 SLC26A2 SLC26A9 SLC29A3 SLC2A1 SLC35A1 SLC35A2 SLC35C1 SLC37A4 SLC39A4 SLC39A7 SLC39A8 SLC3A1 SLC41A1 SLC46A1 SLC52A3 SLC5A2 SLC5A7 SLC6A14 SLC6A19 SLC7A7 SLC7A9 SLC9A3 SLF2 SLX4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMG9 SMN1 SMPD1 SNAP25 SNORA31 SNORD115-1 SNORD116-1 SNRPN SNX10 SOCS1 SON SOX11 SOX17 SOX4 SOX9 SP110 SPAG1 SPEF2 SPI1 SPIB SPINK5 SPPL2A SPTBN1 SPTBN4 SRCAP SREBF1 SRP19 SRP54 SRY STAR STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STING1 STK36 STK4 STOX1 STX11 STX1A STX3 STXBP2 SUCLG1 SULT2B1 SYK SYT2 TAFAZZIN TAOK1 TAP1 TAP2 TAPBP TARS1 TASP1 TBC1D23 TBC1D24 TBCD TBCE TBK1 TBL1XR1 TBL2 TBX1 TBX20 TBX21 TBX6 TCEAL1 TCF3 TCF4 TCIRG1 TCTN3 TECPR2 TERC TERT TET2 TF TFE3 TFRC TGFB1 TGM1 THOC6 TICAM1 TIMMDC1 TINF2 TK2 TLL1 TLR3 TLR4 TLR7 TLR8 TMC8 TMCO1 TMEM270 TMEM70 TMEM94 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF9 TNFSF11 TNFSF12 TNFSF15 TNNI3 TNNT2 TNPO3 TNRC6B TNXB TOM1 TONSL TOP3A TP53 TP63 TP73 TPM2 TPM3 TPP2 TRAC TRAF3 TRAF3IP2 TRAIP TRIM37 TRIO TRIP11 TRIP4 TRPS1 TRRAP TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TTC12 TTC26 TTC7A TXNRD2 TYK2 TYMS UBA2 UBAC2 UBB UBE2A UBE2T UBE3B UFC1 UGP2 UMPS UNC119 UNC13D UNC93B1 UNG UQCRH UROC1 UROD UROS USB1 USP26 USP48 USP8 USP9X VAMP1 VANGL1 VARS1 VPS33A VPS35L VPS37D VPS45 VPS4A VPS51 WAC WAS WASF1 WASHC5 WDR1 WDR19 WDR26 WDR35 WFS1 WIPF1 WRAP53 XIAP XRCC2 YY1 ZAP70 ZBTB16 ZBTB24 ZBTB7A ZEB2 ZMYND10 ZNF341 ZNF668 ZNF699 ZNFX1 ZNHIT3 HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE ACVRL1 ARPC1B ATRX BCL10 BCL2 BCL6 BLNK BTK C1QC C4A C4B C8A C8B CARD11 CARD9 CARMIL2 CCR1 CD19 CD27 CD40LG CD79A CD79B CFB CFI CIITA CLTRN CR2 CTLA4 CXCR4 CYBA CYBB CYBC1 DBR1 DNASE1L3 DOCK8 ENG ERAP1 FAS FCGR3B FGFR3 FOXP3 HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HYOU1 ICOS IFNGR1 IGHM IGLL1 IKBKG IL10 IL12A IL12A-AS1 IL23R IL2RG IL7 IRF3 IRF4 JAK3 KLRC4 L2HGDH LBR LRRC8A MEFV MRTFA MVK MYD88 NCF1 NCF2 NCF4 NCKAP1L NDE1 NLRC4 NLRP3 P4HA2 PGM3 PIK3R1 PRF1 PRTN3 PTPN22 RAG1 RAG2 RFX5 RFXANK RFXAP SH2D1A SLC35C1 SLC39A7 SLC6A19 SNORA31 SPI1 STAT1 STAT4 STK4 STX11 STXBP2 TBK1 TCF3 TFRC TICAM1 TLR3 TLR4 TMEM70 TNFRSF13B TNFRSF13C TOM1 TRAF3 UBAC2 UNC13D UNC93B1 VANGL1 WAS WIPF1 XIAP HP_UNUSUAL_SKIN_INFECTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_SKIN_INFECTION CARD11 CARD9 CARMIL2 DOCK8 IKBKG MVK NCKAP1L PGM3 STK4 HP_UNUSUAL_VIRUS_REACTIVATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_VIRUS_REACTIVATION ARHGEF1 BLM CASP8 CD247 CD3D CD3E CIITA DPP9 FCGR3A IGHG2 IGKC IL2RG MBL2 NFKB2 POLR3F REL RFX5 RFXANK RFXAP STAT1 TOM1 TPP2 UNC119 UNC93B1 WAS HP_UPGAZE_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPGAZE_PALSY AASS AGTPBP1 ATP13A2 ATXN1 DLAT FTL KCNC3 NEK9 PLA2G6 POLG TWNK VPS13A HP_UPLIFTED_EARLOBE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPLIFTED_EARLOBE AHDC1 BMP4 BUB1 CDC42BPB EHMT1 GRIA3 HDAC8 IL1RAPL1 KMT2C LAS1L MAPRE2 MED25 NR2F1 PIGB PIGL PIGQ SIN3A SMARCD1 TBL1XR1 TWIST1 ZEB2 HP_UPPER_AIRWAY_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_AIRWAY_OBSTRUCTION AHDC1 BTNL2 COL11A1 DDRGK1 F12 FGFR2 FGFR3 GNE HLA-DRB1 IDS KCNJ6 LMNA POR SH3BP2 SOX9 XPNPEP2 ZMPSTE24 ZSWIM6 HP_UPPER_EXTREMITY_JOINT_DISLOCATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EXTREMITY_JOINT_DISLOCATION AEBP1 AFF3 APC ARF1 ARFGEF2 ARID1B ASXL1 ATR B3GALT6 B3GAT3 B4GALT7 BMP1 BRD4 CANT1 CD96 CDC45 CDC6 CDT1 CHRNG CHST3 CLCN3 COL1A1 COL1A2 COL27A1 COL5A1 COL5A2 CREBBP CSGALNACT1 DONSON DVL1 DVL3 EP300 ERCC1 ERMARD EXOC6B EXTL3 FBN1 FLNA FLNB FZD2 GDF5 GMNN GPC6 GSC HDAC8 HNRNPH1 HSPG2 IFITM5 KIF22 L1CAM LMNA LMX1B LRP4 MACROH2A1 MAFB MAP1B MAP3K7 NEDD4L NGLY1 NIPBL NOG NOTCH2 NXN ORC1 ORC4 ORC6 PITX1 PRKAR1A RAD21 RNU4ATAC ROR2 SALL4 SCARF2 SHOX SKI SLC26A2 SLC35B2 SLC39A13 SMC1A SMC3 SMOC1 SOX9 SRCAP TBX15 TMTC3 WNT5A XYLT1 HP_UPPER_EYELID_COLOBOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_COLOBOMA ALX1 CDH11 FRAS1 FREM1 POLR1A SF3B2 SLC25A24 TCOF1 TWIST1 HP_UPPER_EYELID_EDEMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_EDEMA DHX30 FRMD4A KAT6A MED12L RIN2 SLC29A3 HP_UPPER_LIMB_AMYOTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_AMYOTROPHY ACTA1 ADSS1 ALS2 ANO5 BSCL2 CADM3 CAV3 CEP126 CHCHD10 CHRNA1 COMP CPLANE1 CYP7B1 DCTN1 DYSF FBLN5 FLNC FXN GARS1 GBF1 GDAP1 GIPC1 GJB1 GNB4 HARS1 HINT1 HK1 HSPB1 HSPB3 IDUA INF2 ITPR3 JAG1 KANSL1 KAT6A KIF1A KIF5A KLHL9 KY LDB3 LMNA LRP12 MARS1 MATR3 MFN2 MORC2 MPZ NDRG1 NEB NEFH NEFL NGLY1 NOTCH2NLC PDK3 PLOD3 PMP22 PRX REEP1 RILPL1 RYR1 SLC12A6 SLC25A21 SLC39A13 SLC52A3 SLC5A6 SPG11 SPTLC1 SQSTM1 SVBP TFG TIA1 TIMM8A TNR TRIM2 TRPV4 VCP WARS1 HP_UPPER_LIMB_ASYMMETRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_ASYMMETRY ACTB AGGF1 AKT1 EBP H19 HOXD13 IGF2 MAPRE2 PORCN PTEN PTHLH TUBB HP_UPPER_LIMB_HYPERTONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_HYPERTONIA CLDN11 MTPAP SEPSECS SPG7 TSEN15 TSEN2 TSEN34 TSEN54 VPS37A HP_UPPER_LIMB_JOINT_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_JOINT_CONTRACTURE ACTA1 ACTG2 ADAMTS3 ADAMTSL2 ADAT3 ADGRG6 ALDH18A1 ALG3 ALS2 ALX1 ALX3 AMER1 ANO5 ANTXR2 APC2 ARID1B ARPC4 ASXL1 ASXL3 ATR AUTS2 B3GALT6 B3GAT3 BCOR BCR CADM3 CANT1 CAPN3 CASZ1 CAV1 CCBE1 CCDC22 CCN2 CCN6 CCR6 CDC45 CDC6 CDH3 CDT1 CHRNG CHST3 CLCF1 CNTN1 COG5 COL11A1 COL11A2 COL12A1 COL1A1 COL25A1 COL2A1 COL6A1 COL6A2 COL6A3 COX11 CPT2 CRKL CRLF1 CSGALNACT1 CTCF CTDP1 CUL4B DDR2 DHCR24 DHODH DHX16 DLK1 DLL3 DMD DOK7 DVL1 DVL3 DYRK1A ECE1 ECEL1 EED EFNB1 EMD EMG1 ERCC1 ERCC2 ERCC5 ERCC6 ERGIC1 ERLIN2 ESCO2 EXTL3 EZH2 FAT4 FBN1 FBN2 FBXO28 FBXW11 FDFT1 FERMT1 FGD1 FGFR1 FGFR3 FHL1 FKBP10 FKRP FKTN FLNA FLVCR1 FUS FZD2 GABRD GDAP1 GDF5 GJA1 GJB2 GLDN GLI3 GMNN GNB2 GNS GON7 GPC3 GPC4 GPKOW H4C9 HACD1 HES7 HINT1 HK1 HLA-DRB1 HNRNPA1 HOXD13 HS2ST1 HSPB1 HSPG2 IDS IDUA IGF2 IGHMBP2 IKBKG IL6ST INF2 IPO8 IRF5 ITGA7 JAG2 JARID2 KAT6B KCNAB2 KCNK9 KDM5B KDM5C KIAA0319L KIF21A KIF22 KIF5A KMT2A KMT2B KRT1 KRT14 KRT16 KRT9 KY L1CAM LAGE3 LAMA2 LAMB3 LARGE1 LFNG LGI4 LIFR LMBR1 LMNA LMX1B LUZP1 MAFB MAP3K20 MAP3K7 MAPK1 MBTPS2 MECP2 MED12 MED25 MEG3 MEGF10 MESP2 MKS1 MMP2 MMP23B MORC2 MUSK MYBPC1 MYH3 MYL1 MYL11 MYL2 MYOD1 NAA10 NALCN NDRG1 NEDD4L NEFL NIPBL NLRP3 NOD2 NOG NSD1 NUP107 NUP133 NUP88 NXN OCRL ORC1 ORC4 ORC6 OSGEP P4HTM PAX3 PDGFRB PDPN PDXK PEX1 PEX5 PEX6 PHGDH PI4KA PIEZO2 PIGA PIGL PIGY PIK3C2A PITX1 PLEKHG5 PLOD1 PLOD2 PLOD3 PMP22 POLR3A POLR3GL POR PORCN PQBP1 PRDM16 PRG4 PRKCZ PSMB8 PSTPIP1 PTDSS1 PTRH2 PYCR1 PYROXD1 RAB23 RAB3GAP1 RAPSN RARS2 RERE RIPPLY2 RMRP RNU4ATAC ROR2 RPL10 RSPO2 RTL1 RTTN RYR3 SCARF2 SCN4A SCYL2 SELENON SETD2 SH3PXD2B SHH SIGMAR1 SIK3 SIN3A SKI SLC18A3 SLC25A46 SLC26A2 SLC29A3 SLC35A2 SLC35A3 SLC39A13 SLC39A8 SLC6A9 SMAD3 SMARCAD1 SMC1A SMG9 SMOC1 SNRPB SOX9 SPEN SPG11 SPRTN SPTLC1 SRD5A3 SUZ12 SVIL SYNE1 SYNE2 SYT2 TBC1D2B TBR1 TBX15 TBX2 TBX3 TCTN3 TDO2 TFAP2A TGDS TGFB3 TGFBR1 TGFBR2 TLK2 TMEM218 TMEM222 TMEM43 TMEM70 TNNI2 TNNT1 TNNT3 TOR1A TOR1AIP1 TP53RK TP63 TPM2 TPM3 TPRKB TRPS1 TRPV4 TUBA1A TUBB3 TWIST2 UBA1 UBE4B UNC80 UPF3B UROS WDR4 WDR73 WNT5A WNT7A XYLT1 YRDC ZDHHC9 ZMPSTE24 ZNF407 HP_UPPER_LIMB_MUSCLE_WEAKNESS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_MUSCLE_WEAKNESS ACTA1 ADAR ADSS1 AGRN AK9 AKT1 ANO5 ANXA11 B4GALNT1 BAP1 BIN1 BSCL2 CADM3 CCND1 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COL25A1 CPOX CRPPA CYP7B1 DNM2 DNMT3B DOK7 DYSF EGR2 EMD ERGIC1 FARS2 FBXO38 FGD4 FHL1 GALC GARS1 GDAP1 GIPC1 GMPPB GYG1 HEXB HMBS IGHMBP2 JAG1 JAG2 KIF5A KY LAMA2 LDB3 LIPE LMNA LPIN1 LRP12 LRP4 MFN2 MORC2 MPZ MT-ATP6 MT-CO1 MT-CO3 MTMR14 MTRFR MUSK MYF6 NEFH NEFL NF2 NOTCH2NLC NUP54 NUP62 OBSCN PDGFB PDXK PIEZO2 PIK3CA PLOD1 POMT1 POU3F4 PPOX RAPSN REEP1 RILPL1 RYR1 SBF1 SBF2 SCN4A SCYL2 SGCG SH3TC2 SLC12A6 SMARCB1 SMARCE1 SMO SMPX SPART SPG11 SPG7 SUFU SYNE1 SYNE2 TCAP TERT TFG TMEM43 TRAF7 TRPV4 VAPB VCP VHL VWA1 YARS1 ZFYVE26 HP_UPPER_LIMB_PAIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_PAIN B2M COMP FLI1 IDUA KRT14 KRT5 MAFB MFN2 HP_UPPER_LIMB_POSTURAL_TREMOR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_POSTURAL_TREMOR ANO3 CACNA1G CARS2 COL6A3 ITPR1 LMNB1 MPZ PLA2G6 PMP22 TUBB4A HP_UPPER_LIMB_SPASTICITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_SPASTICITY ACTL6B ALS2 B4GALNT1 CLCN4 CYP7B1 DDHD2 ERLIN2 FUS GBA2 GJC2 HEPACAM KIF5A PIGA RARS2 RNF170 SATB1 SELENOI SIGMAR1 SPART SPG11 SPTLC1 TBCD THOC2 TMEM63C UBAP1 WASHC5 ZFYVE26 HP_UPPER_LIMB_UNDERGROWTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_UNDERGROWTH AFF4 ALG12 APC ATR B2M BMPR1B BPTF BRCA1 BRCA2 BRIP1 CCDC8 CCNQ CHD7 CHN1 CHST3 CHUK COL2A1 CUL7 DHODH DLK1 DONSON DPM1 DYNC2H1 EIF4A3 ERCC4 ESCO2 EXOC6B EXT1 EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF10 FGFR2 FGFR3 FN1 GDF5 GSC HYLS1 IFT81 IHH JAG1 LBR LRP4 MAD2L2 MAFB MEG3 NIPBL NOG NPR2 OBSL1 PALB2 PDE4D PIGT PRKAR1A PSMD12 RAD51 RAD51C RBM10 RBM8A RECQL4 RFWD3 ROR2 RPL26 RPS19 RTL1 SALL4 SCARF2 SF3B4 SHOX SLC26A2 SLX4 TBX3 TBX5 TRIP11 UBE2T VPS35L WNT7A XRCC2 HP_UPPER_MOTOR_NEURON_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_MOTOR_NEURON_DYSFUNCTION AAAS AARS1 AARS2 AASS ABCA12 ABCB7 ABCC6 ABCC8 ABCD1 ABHD12 ABHD16A ACADS ACAT1 ACER3 ACOX1 ACP5 ACTL6B ADA2 ADAM22 ADAR ADARB1 ADAT3 ADD3 ADGRG1 ADPRS ADSL AFF3 AFG3L2 AGA AGR2 AGTPBP1 AIFM1 AIMP1 AIPL1 AKT1 AKT3 ALDH18A1 ALDH3A2 ALG11 ALG13 ALG3 ALG9 ALS2 AMACR AMFR AMPD2 ANG ANGPTL6 ANK3 ANKLE2 ANO10 ANOS1 ANXA11 AP1G1 AP1S2 AP2M1 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC APC2 APOE ARF1 ARFGEF2 ARG1 ARHGAP31 ARL6IP1 ARNT2 ARSA ARSI ARV1 ARX ASAH1 ASNS ASPA ATAD1 ATAD3A ATG5 ATL1 ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATP6V0A1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATPAF1 ATPAF2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8OS AUH AUTS2 B3GALNT2 B3GALT6 B4GALNT1 B4GAT1 BAP1 BAZ1B BCAP31 BCAS3 BCAT2 BCL11B BCL7B BCOR BCS1L BDNF BEAN1 BICD2 BMPR1A BOLA3 BRAT1 BSCL2 BTD BUB1B BUD23 C19orf12 C2orf69 C4A C9orf72 CA2 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1G CACNA1S CACNA2D1 CAMK2A CAMK2B CAMLG CAMSAP1 CAMTA1 CAPN1 CARS1 CARS2 CASK CASZ1 CAV1 CBS CCDC141 CCDC88C CCNF CCR1 CCT5 CDC40 CDK19 CDKL5 CDON CELF2 CEP290 CEP85L CFAP410 CFH CFHR1 CFHR3 CHCHD10 CHD2 CHD7 CHMP1A CHMP2B CHP1 CIT CKAP2L CLCN3 CLCN4 CLDN11 CLIC2 CLIP2 CLN5 CLN8 CLP1 CLPB CLTC CNKSR2 CNOT1 CNP CNPY3 CNTNAP1 CNTNAP2 COA8 COASY COG2 COL3A1 COL4A1 COL4A2 COLGALT1 COPB1 COPB2 COQ2 COQ5 COQ8A COX15 COX20 COX8A CPSF3 CPT1A CPT1C CRB1 CRLF1 CRPPA CRX CSF1R CTC1 CTDP1 CTLA4 CTNNA2 CTNNB1 CTSD CTSF CTSK CWF19L1 CYB5A CYB5R3 CYFIP2 CYP26C1 CYP27A1 CYP2U1 CYP7B1 DALRD3 DAO DARS1 DARS2 DCC DCTN1 DCX DDB2 DDC DDHD1 DDHD2 DDX3X DEGS1 DENND5A DHCR24 DHDDS DHPS DISP1 DKK1 DLAT DLD DLL1 DLL4 DMXL2 DNAJC19 DNAJC3 DNAJC30 DNAJC6 DNASE1L3 DNM1 DNM1L DNMT1 DOCK6 DOCK8 DOLK DPH5 DPM1 DPM3 DPYD DPYS DSTYK DTYMK DUSP6 DYM DYNC1H1 DYNC1I2 EARS2 ECHS1 EDNRB EED EEF1A2 EEF2 EIF2AK1 EIF2AK2 EIF2B1 EIF2B2 EIF2B4 EIF2S3 EIF4H ELN ELOVL1 ELOVL4 ELP2 EML1 ENG ENPP1 ENTPD1 EOGT EPCAM EPHA4 EPM2A EPRS1 ERAP1 ERBB4 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERLIN1 ERLIN2 ETHE1 EXOC2 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EZH2 FA2H FAN1 FAR1 FARS2 FAS FBLN1 FBXO28 FBXO7 FCSK FDX2 FDXR FEZF1 FGF12 FGF13 FGF17 FGF8 FGFR1 FIG4 FKBP6 FKRP FKTN FLNA FLRT1 FLRT3 FOXG1 FOXH1 FOXP1 FRMD5 FRMPD4 FRRS1L FTL FUCA1 FUS FXN FZR1 GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRD GABRG2 GAD1 GALC GAMT GAN GAS1 GATAD2B GBA1 GBA2 GBE1 GCDH GCH1 GDAP2 GDF3 GDF6 GEMIN4 GFAP GFM1 GFM2 GIPC1 GJA1 GJB1 GJC2 GLB1 GLE1 GLI2 GLRA1 GLRB GLRX5 GLT8D1 GLYCTK GM2A GMPPA GMPPB GNAO1 GNAQ GNB1 GON7 GOT2 GPAA1 GPHN GPT2 GRIA2 GRIA3 GRIA4 GRID2 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GRM7 GRN GSS GSX2 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCY1A1 GUCY2D GUF1 H3-3A H4C5 HACE1 HADHA HADHB HCN1 HECTD4 HEPACAM HESX1 HEXB HID1 HIKESHI HINT1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMGCL HNRNPA1 HNRNPA2B1 HPDL HPRT1 HRAS HS6ST1 HSD17B10 HSD17B4 HSPD1 HSPG2 HTRA1 HTRA2 HTT HUWE1 HYCC1 IARS1 IBA57 IDUA IFIH1 IFNGR1 IFT140 IKBKG IL10 IL12A IL12A-AS1 IL17RD IL23R IMPDH1 IMPDH2 INPP5E INPP5K INTS8 IQCB1 IRAK1 IREB2 IRF2BPL IRF4 ISCA1 ISCA2 ITM2B JAM2 JAM3 KANK1 KARS1 KATNB1 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNC2 KCNC3 KCNJ13 KCNJ18 KCNJ6 KCNQ2 KCNT1 KDM5C KIDINS220 KIF11 KIF1A KIF1C KIF2A KIF5A KIF5C KLC2 KLRC4 KMT2B KPNA3 KRAS KY L1CAM L2HGDH LAGE3 LAMB1 LARGE1 LCA5 LETM1 LIAS LIG3 LIMK1 LIMS2 LINGO1 LIPT1 LIPT2 LMBRD2 LMNB1 LMX1B LRAT LRP12 LRP4 LRPPRC LRRK2 LSM11 LUZP1 LYRM7 LYST MACF1 MAG MAN2B1 MAPK8IP3 MAPT MARS1 MARS2 MATR3 MC2R MCCC1 MCCC2 MCEE MCOLN1 MDH2 MECP2 MECR MED12 MED13L MED17 MED23 MED25 MED27 MEFV MEOX1 METTL27 METTL5 MFF MFN2 MFSD2A MICOS13 MINPP1 MLC1 MLH1 MLH3 MLXIPL MMP23B MMUT MOCS1 MOCS2 MORC2 MPLKIP MPZ MRAP MRE11 MRM2 MRPS22 MRPS34 MSH2 MSH6 MSL3 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TI MT-TK MT-TL1 MT-TP MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFR MTHFS MTO1 MTOR MTPAP MTRFR MTTP MYO5A MYORG NAA10 NACC1 NADK2 NAGA NAGS NALCN NARS2 NAXD NAXE NCF1 NDE1 NDNF NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFAF4 NDUFAF5 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFV1 NDUFV2 NECAP1 NEFH NEFL NEK1 NEU1 NEUROD2 NEXMIF NF1 NF2 NFASC NFU1 NHLRC1 NHLRC2 NIPA1 NKX6-2 NMNAT1 NNT NODAL NOP56 NOTCH1 NOTCH2NLC NOTCH3 NOVA2 NPC1 NPC2 NPPA NR2F1 NR4A2 NSD1 NSRP1 NSUN2 NT5C2 NTNG1 NTNG2 NTRK2 NUBPL NUP107 NUP133 NUP214 NUP54 NUP62 NUS1 OCLN ODC1 OGDHL OPA1 OPA3 OPHN1 OPTN OSGEP OSTM1 OTUD6B OTX2 PACS2 PAFAH1B1 PAH PANK2 PARK7 PARS2 PAX3 PAX6 PCDH12 PCLO PCYT1A PCYT2 PDCD1 PDGFB PDGFRB PDHX PDPN PDYN PET100 PET117 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFN1 PGAP1 PHACTR1 PHGDH PHYH PI4KA PIGA PIGN PIGP PIGQ PIGT PIGU PIK3CA PIK3R5 PINK1 PLA2G6 PLAA PLCB1 PLCH1 PLP1 PMP2 PMP22 PMPCA PMPCB PMS1 PMS2 PNKP PNP PNPLA6 PNPLA8 PNPT1 PODXL POLA1 POLG POLR1C POLR3A POLR3B POLR3GL POLR3K POMGNT1 POMK POMT1 POMT2 PON1 PON2 PON3 POU3F3 POU4F1 PPARGC1A PPFIBP1 PPIL1 PPOX PPP1R15B PPP2R2B PPP3CA PPT1 PQBP1 PRDM13 PRDM16 PRDM8 PRF1 PRICKLE1 PRKCZ PRKN PRKRA PRNP PROK2 PROKR2 PRORP PRPH PRPS1 PRRT2 PRSS12 PRTN3 PRUNE1 PSAP PSAT1 PSEN1 PSMC1 PTCH1 PTEN PTPN22 PTPN23 PTS PUM1 PYCR2 RAB11B RAB18 RAB27A RAB3GAP1 RAB3GAP2 RAD50 RALGAPA1 RANBP2 RARS1 RARS2 RASA1 RBM28 RBPJ RD3 RDH12 REEP1 REEP2 REPS1 RERE RETREG1 RFC1 RFC2 RFT1 RHOBTB2 RILPL1 RLIM RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF170 RNF216 RNF220 RNU4ATAC RNU7-1 ROGDI RORA RPE65 RPGRIP1 RPIA RPS20 RPS6KA3 RRM2B RTN2 RTTN RUSC2 SACS SAMD9 SAMD9L SAMHD1 SARDH SAT1 SATB1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN4A SCN5A SCN8A SCYL1 SCYL2 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEMA3A SEMA4A SEPSECS SERAC1 SETBP1 SETX SHH SHMT2 SHQ1 SIGMAR1 SIK1 SIL1 SIX3 SIX6 SKI SLC12A2 SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A10 SLC25A12 SLC25A15 SLC25A22 SLC25A46 SLC2A1 SLC2A3 SLC30A10 SLC32A1 SLC33A1 SLC35A2 SLC38A3 SLC39A14 SLC44A1 SLC5A6 SLC6A1 SLC6A3 SLC6A5 SLC6A8 SLC9A7 SLITRK2 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMO SMPD1 SNCA SNORD118 SNX14 SOD1 SON SOX10 SOX2 SOX3 SOX4 SP110 SPART SPAST SPATA5 SPATA5L1 SPATA7 SPEN SPG11 SPG21 SPG7 SPOP SPP1 SPR SPRY4 SPTAN1 SPTBN1 SPTBN2 SPTLC1 SQSTM1 SRD5A3 SRPX2 STAG2 STAMBP STAR STAT4 STIL STN1 STUB1 STX1A STXBP1 SUCLA2 SUFU SUMF1 SUOX SUZ12 SVBP SYNE1 SYNGAP1 SYNJ1 SZT2 TACO1 TACR3 TAF1 TAF15 TAF2 TAF8 TANGO2 TARDBP TARS1 TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBK1 TBL2 TBP TBX1 TCEAL1 TCF20 TCTN2 TDGF1 TDP1 TECPR2 TELO2 TERT TFG TGFB1 TGFBR2 TGFBR3 TGIF1 TGM6 TH THG1L THOC2 THSD1 TIMM50 TIMM8A TLR3 TLR4 TMEM106B TMEM222 TMEM231 TMEM270 TMEM63A TMEM63C TMEM67 TMTC3 TMX2 TNFRSF11A TNR TOE1 TOR1A TP53 TP53RK TPI1 TPK1 TPP1 TPP2 TPRKB TRAF7 TRAK1 TRAPPC12 TRAPPC2L TRAPPC4 TREM2 TREX1 TRIM8 TRIT1 TRMT10A TRMT5 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TSPOAP1 TTBK2 TTC19 TTC26 TTPA TTR TUBA1A TUBB2B TUBB3 TUBB4A TUBB4B TUBG1 TUBGCP2 TUFM TULP1 TWNK TXN2 TXNRD2 TYROBP UBA5 UBAC2 UBAP1 UBE4A UBE4B UBQLN2 UBTF UCHL1 UFC1 UFM1 UGDH UGP2 UNC13A UNC80 USP45 USP8 VAMP1 VAPB VCP VPS11 VPS13C VPS13D VPS37A VPS37D VPS41 VPS4A VPS50 VPS53 VRK1 VWA3B WARS1 WARS2 WASHC4 WASHC5 WDR11 WDR26 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 WLS WT1 WWOX XPA XPC YIF1B YRDC YWHAG ZBTB11 ZC4H2 ZEB2 ZFR ZFYVE26 ZFYVE27 ZIC2 ZNF335 ZNF592 ZNF668 ZSWIM6 HP_UPSLANTED_PALPEBRAL_FISSURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPSLANTED_PALPEBRAL_FISSURE ABL1 ADAMTS3 ADAMTSL2 ADARB1 ADAT3 ADNP AGO2 AGR2 AHDC1 ALG2 ALX4 ANK1 ANKLE2 ANKRD11 ANKRD17 AP1S1 AP3B1 ARID1B ARVCF ASPM ASXL1 ASXL3 ATAD3A ATRX AUTS2 B3GLCT BCL11B BICRA BLTP1 BPTF BRCA1 BRCA2 BRIP1 BUB1B C2CD3 CACNA1G CCDC22 CCDC32 CD96 CDC42 CDC42BPB CDK13 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152 CEP63 CERT1 CHAMP1 CHD4 CHD5 CIT CLTC CNOT2 CNOT3 COG1 COG7 COL3A1 COMT COPB1 COPB2 CREBBP CTU2 DDB1 DEAF1 DHCR7 DLG3 DLX4 DONSON DPH5 DPYD DVL1 DVL3 DYNC1I2 DYRK1A EBF3 EBP EFTUD2 EHMT1 EIF2AK3 EP300 ERCC4 EXOC2 EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBXO31 FGFR1 FGFR2 FIG4 FLII FLNA FZD2 GAD1 GATA1 GATA4 GATAD2B GJA1 GJA5 GJA8 GNB2 GP1BB H3-3A H4C11 H4C3 H4C5 HBB HDAC4 HECTD4 HERC1 HERC2 HHAT HIRA HIVEP2 HNRNPR HNRNPU HS2ST1 HSD17B4 HUWE1 IFT140 IFT57 IGF1R IL1RAPL1 IQSEC2 JAG1 JARID2 JMJD1C KANSL1 KAT8 KDM4B KDM5C KIF11 KIF14 KNL1 LIG4 LMBRD2 LMNB1 MAD2L2 MAF MAGEL2 MAP3K7 MAPK8IP3 MAPRE2 MCM7 MCPH1 MCTP2 MECP2 MED13L MEF2C MEGF8 MEIS2 METTL5 MFSD2A MINPP1 MKRN3 MRPS2 MTSS2 MYCN NARS1 NBN NCAPD3 NDUFS4 NFIA NFIX NOG NONO NPAP1 NR2F1 NRCAM NSD2 NSDHL NUP37 NXN OCRL PAK3 PALB2 PARS2 PCDHGC4 PCNT PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHC1 PHF8 PHIP PIGA PIGB PIGL PIGN PIGO PIGT PIGV PIGW PIGY PLPBP PMM2 POGZ POLA1 POLR3A POLR3GL PPP1CB PPP1R12A PPP1R21 PQBP1 PRDM13 PRKAR1B PTCH1 PUF60 PURA PWAR1 PWRN1 PYCR2 QRICH1 RAB11B RAD21 RAD51 RAD51C RAI1 RDH11 RERE RFWD3 RFX7 RIPK4 ROR2 RREB1 RTTN SARS1 SASS6 SCNM1 SEC24C SEPTIN9 SETD2 SETD5 SIM1 SLC30A9 SLX4 SMC1A SMS SNORD115-1 SNORD116-1 SNRPN SPECC1L SPEN SPTBN1 STEEP1 STIL TAF13 TBCD TBCK TBX1 TBX6 TCF4 TELO2 TFAP2A TGDS THOC6 TLK2 TMCO1 TOE1 TOR1A TRAPPC10 TRAPPC14 TRIO TRIP12 TRPM3 TRRAP TTC26 TUBB TUBGCP2 UBE2A UBE2T UBE3B UBR1 UFD1 UQCC2 USP9X VAC14 WARS1 WASF1 WDR35 WDR62 WNT5A XRCC2 XRCC4 ZC4H2 ZIC2 ZMIZ1 ZMYND11 ZNF148 ZNF292 ZNF526 HP_URETERAL_DUPLICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_DUPLICATION APC2 AXIN1 B3GLCT B9D1 B9D2 CC2D2A CEP290 COL18A1 CPT2 CSPP1 FIBP FUZ GATA6 GPC3 GPC4 IFT140 KCTD1 LMNA MKS1 NCAPG2 NODAL NSD1 PAK2 PBX1 PIGN PORCN PSMD12 RBM8A RPGRIP1 RPGRIP1L SETD2 SLC6A17 SOS1 SOX17 SPINT2 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 VANGL1 ZMPSTE24 HP_URETERAL_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_OBSTRUCTION APC2 ATP7A BRF1 CDH11 CTLA4 DHCR7 DSTYK EYA1 FLNA GNB1 GRHPR HLA-DPA1 HLA-DPB1 HNF1B HOXA13 KDM6A KMT2D LAMA3 LAMB3 LAMC2 MAP3K7 MYOD1 NODAL NSD1 PIGL PIGT PRTN3 PTPN22 SETBP1 SETD2 SF3B2 SIX1 SIX5 SLC26A1 SLC35A2 SOX17 TBX18 YY1 ZMYM2 HP_URETERAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_STENOSIS APC2 BRF1 CDH11 CTLA4 DHCR7 DSTYK EYA1 FLNA GNB1 HLA-DPA1 HLA-DPB1 HNF1B HOXA13 KDM6A KMT2D MYOD1 NODAL NSD1 PIGL PIGT PRTN3 PTPN22 SETBP1 SETD2 SF3B2 SIX1 SIX5 SLC26A1 SLC35A2 SOX17 TBX18 YY1 ZMYM2 HP_URETEROCELE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROCELE ARX CASK CDKL5 DMXL2 GNAO1 GRIN1 GRM7 HNF1B ITGA6 ITGB4 KCNA1 LAMA3 LAMB3 LAMC2 LHX1 MAPRE2 NEUROD2 PEX6 PIGP PIGQ PLEC PNKP SCN1B SCN2A SIK1 SLC25A22 SLC32A1 TP63 TRIM8 HP_URETEROPELVIC_JUNCTION_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION APC2 BRF1 DHCR7 DSTYK EYA1 GNB1 HNF1B HOXA13 KDM6A KMT2D MYOD1 NSD1 PIGL SETD2 SF3B2 SIX1 SIX5 SLC26A1 SLC35A2 SOX17 TBX18 YY1 ZMYM2 HP_URETHRAL_ATRESIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_ATRESIA B9D1 B9D2 CC2D2A CEP290 CSPP1 FANCB FRAS1 FREM2 GRIP1 MKS1 RPGRIP1 RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TP63 TXNDC15 WNT3 ZIC3 HP_URETHRAL_DIVERTICULUM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_DIVERTICULUM AR EFEMP2 FBLN5 LTBP1 MAMLD1 PLD1 HP_URETHRAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_FISTULA DYNC2H1 DYNC2I1 DYNC2I2 IFT80 MID1 RNU12 UBR1 WDR35 HP_URETHRAL_OBSTRUCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_OBSTRUCTION APC2 BAZ1B BCL7B BNC2 BUD23 CDC45 CHRM3 CLIP2 COL7A1 CTC1 DACT1 DKC1 DNAJC30 EIF4H ELN FERMT1 FKBP6 FLNA FLT4 GTF2I GTF2IRD1 GTF2IRD2 HNRNPH1 HPSE2 IGF2 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 LIMK1 LRIG2 MAP3K7 MED25 METTL27 MID1 MKKS MLXIPL MMP1 NCF1 NHP2 NOP10 NPM1 NSD1 PARN PKP1 PLEC POLA1 PTPRF RFC2 RIN2 RTEL1 SALL1 SETD2 SIN3A SPRED1 SRCAP STX1A TBL2 TBX1 TERC TERT TINF2 TMEM270 TP63 TYMS USB1 VPS37D WRAP53 ZMYM2 HP_URETHRAL_STENOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STENOSIS BAZ1B BCL7B BNC2 BUD23 CDC45 CLIP2 COL7A1 CTC1 DKC1 DNAJC30 EIF4H ELN FERMT1 FKBP6 FLNA FLT4 GTF2I GTF2IRD1 GTF2IRD2 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 LIMK1 MAP3K7 MED25 METTL27 MKKS MLXIPL MMP1 NCF1 NHP2 NOP10 NPM1 PARN PKP1 PLEC POLA1 PTPRF RFC2 RIN2 RTEL1 SIN3A SPRED1 STX1A TBL2 TBX1 TERC TERT TINF2 TMEM270 TP63 TYMS USB1 VPS37D WRAP53 ZMYM2 HP_URETHRAL_STRICTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STRICTURE CDC45 COL7A1 FERMT1 FLT4 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 MKKS MMP1 PKP1 PLEC POLA1 TERT TINF2 ZMYM2 HP_URETHRAL_VALVE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_VALVE APC2 BNC2 CHRM3 DACT1 HNRNPH1 HPSE2 IGF2 MID1 NSD1 SALL1 SETD2 SRCAP HP_URETHROVAGINAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVAGINAL_FISTULA DYNC2H1 DYNC2I1 DYNC2I2 IFT80 UBR1 WDR35 HP_URETHROVESICAL_OCCLUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVESICAL_OCCLUSION APC2 BNC2 CHRM3 HNRNPH1 IGF2 ITGB4 MID1 NSD1 PLEC SETD2 SRCAP HP_URIC_ACID_NEPHROLITHIASIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URIC_ACID_NEPHROLITHIASIS APRT HPRT1 PRPS1 SLC22A12 SLC2A9 HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION ABCD1 AP5Z1 ATL1 ATXN1 ATXN2 ATXN3 CLN3 COL7A1 FMR1 FXN GBE1 GFAP GJC2 HNRNPA1 HNRNPA2B1 HSPD1 KIF1A KIF5A MMP1 MPZ NIPA1 PIK3R5 PMP22 REEP2 RTN2 SETX SPAST SPG11 SPG7 VCP WASHC5 WWOX ZFYVE26 HP_URINARY_INCONTINENCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_INCONTINENCE ABCD1 ADNP AKT1 ALDH18A1 ALMS1 ALS2 AP5Z1 ARSA ARX ATL1 ATP13A2 ATXN10 ATXN2 ATXN8OS AUH BAP1 BIN1 BNC2 CABP4 CACNA1G CACNA1H CAPN1 CCL2 CFAP43 CHMP2B CHRNA2 CHRNA4 CHRNB2 CLCNKB COG5 COPB1 COQ2 CPT1C CRH CYP7B1 DDHD2 DEPDC5 DKK1 DNM2 DNMT1 DPH5 EIF2AK2 FA2H FAR1 FARS2 FGFR3 FITM2 FLVCR1 FMR1 FRMD5 FUS FUZ GAA GABRA1 GABRB3 GABRG2 GALC GALNT2 GBA2 GBE1 GGT1 GJC2 HACE1 HEXB HLA-DQB1 HLA-DRB1 HMBS HPSE2 HS6ST2 HSPD1 HTRA1 IFT57 IGHMBP2 JRK KCNC3 KCND3 KCNT1 KIF5A KMT2B KY LRIG2 MNX1 MORC2 MTMR14 MYF6 MYO1H NEFL NEXMIF NF2 NGF NIPA1 NOTCH2NLC NOTCH3 PANK2 PDCD1 PDGFB PDGFRB PEX11B PIK3CA POT1 PRDM8 PSAP RETREG1 RNF170 RSRC1 RTN2 RYR1 SACS SBF1 SCN9A SIGMAR1 SLC12A3 SLC1A4 SLC20A2 SLC2A1 SLC44A1 SLC9A6 SMARCB1 SMARCE1 SMO SPAST SPG11 SPG7 SPTLC1 SQSTM1 STUB1 SUFU SYNE1 TBCD TBP TBXT TERT TIMM50 TRAF7 TRIO TRPV4 TTR TYROBP UBAP1 VANGL1 VANGL2 VCP WASHC5 ZC4H2 ZEB2 ZFYVE26 ZMYM2 HP_URINARY_RETENTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_RETENTION ABCD1 ACTG2 ALDH18A1 ALMS1 APRT ASXL1 BNC2 CACNA1S CAMK2B ERCC6 ERCC8 EXT1 EXT2 GABRA3 HMBS KCNJ18 LAMA3 LAMB3 LAMC2 LMNB1 NAB2 PRNP RASA1 SP110 STAT6 TGFB1 VANGL1 HP_URINARY_TRACT_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_TRACT_NEOPLASM AAGAB AKT1 ALX4 APC ARMC5 ASXL1 ATP7A AURKA AXIN2 B3GALT6 BAP1 BAX BLM BMPER BMPR1A BRAF BRCA2 BUB1 BUB1B BUB3 C1S CCND1 CDC73 CDKN1B CDKN1C CDKN2A CEP57 CHEK2 COL14A1 CTNNB1 DCC DHX37 DICER1 DIS3L2 DLC1 DLST DMRT3 EP300 EPCAM EXT2 FAN1 FERMT1 FGFR3 FH FIBP FLCN FOXE1 GATA4 GNAS GPC3 GPC4 H19 HABP2 HDAC4 HNF1A HNF1B HRAS IFNG IGF2 KCNQ1 KCNQ1OT1 KEAP1 KIF1B KLLN KRAS LMNA MAP3K1 MAX MCC MDH2 MDM2 MET MINPP1 MLH1 MLH3 MSH2 MSH6 MVK NF1 NOD2 NR0B1 NR5A1 NRAS NTHL1 OGG1 PALB2 PAX6 PBRM1 PDGFRL PHF21A PIK3CA PLA2G2A PMS1 PMS2 POT1 POU6F2 PRCC PTCH1 PTEN PTPN12 PTPRJ RAD54B RB1 REST RET RNF139 RNF43 RPS20 SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA4A SETBP1 SLC25A11 SMARCA4 SOX9 SPRED1 SRC SRY STK11 TFE3 TGFBR2 TLR2 TMEM127 TP53 TRIM28 TRIM37 TRIP13 TSC1 TSC2 USF3 VAMP7 VHL WRN WT1 WWOX ZFPM2 HP_URINARY_URGENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_URGENCY ABCD1 ADH1C ALDH18A1 ALMS1 ATL1 ATP13A2 ATP1A3 ATXN10 ATXN2 ATXN8OS B4GALNT1 CACNA1G COQ2 CPT1C EIF2AK1 FA2H FAR1 GBA1 GLUD2 GNB2 HPDL HSPD1 KCNC3 KIF5A KPNA3 LMNB1 LRIG2 MAPT MARS2 MED27 MT-TT NIPA1 NR4A2 PI4KA PINK1 PLP1 PNPT1 REEP1 RTN2 SACS SNCA SNCAIP SPART SPAST SPG11 SPG7 TBP TPP1 TRPV4 UBAP1 WASHC5 ZFYVE26 HP_UROGENITAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_FISTULA CAPN15 CCNQ CD3G CDK8 DACT1 DDB1 DLL3 DOCK2 DYNC2H1 DYNC2I1 DYNC2I2 ELF4 FGF20 FREM1 GFRA1 GREB1L HES7 IFT80 IL10RB ITGA8 JAK3 KDM6A KIF7 KMT2D LFNG LONP1 MESP2 MID1 MKKS MNX1 NCF4 OCRL PI4KA PIGN PKP1 POLR1B POLR1C POLR1D POR RECQL4 RET RIPPLY2 RNU12 SALL1 SALL4 SLC35A2 SPINT2 SYK TCOF1 TCTN3 TGFB1 UBR1 WDR35 WNT9B HP_UROGENITAL_SINUS_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_SINUS_ANOMALY AR CHRM3 CYP11A1 DHX37 DMRT3 GATA4 MAP3K1 MKKS NR0B1 NR2F2 NR5A1 PPP1R12A SOX9 SRD5A2 SRY VAMP7 WT1 WWOX ZFPM2 HP_URTICARIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URTICARIA ADGRE2 ALDH3A2 ALPK1 ANTXR2 ASXL1 CARMIL2 CASP10 CBL CBS CPN1 ELOVL4 ERCC2 ERCC3 ERCC4 ERCC5 FAS FASLG FOXP3 GNB2 HLA-DQB1 HLA-DRB1 IFIH1 IL12A IL12RB1 IRF5 KIT MBTPS2 MMEL1 MVK MYD88 NLRC4 NLRP12 NLRP3 PLCG2 POU2AF1 PRKCD RAC2 RASGRP1 RUNX1 SDHB SDHC SERPING1 SF3B4 SLC27A4 SPIB SPINK5 SRSF2 SUPT16H TET2 TNFSF15 TNPO3 WAS WIPF1 XPNPEP2 HP_USUAL_INTERSTITIAL_PNEUMONIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_USUAL_INTERSTITIAL_PNEUMONIA ABCA3 MUC5B RTEL1 SFTPA1 SFTPA2 SFTPC TERT HP_UTERINE_LEIOMYOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_LEIOMYOMA CDC73 COQ6 FGFR3 FH LZTR1 MSH3 NF2 SMARCB1 HP_UTERINE_PROLAPSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_PROLAPSE COL1A1 COL3A1 COL5A1 COL5A2 ELN RPS6KA3 SMAD3 HP_UTERINE_RUPTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_RUPTURE COL3A1 IPO8 NDP TGFBR1 TGFBR2 HP_UTERUS_DIDELPHYS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERUS_DIDELPHYS AXIN1 DYNC2H1 DYNC2I1 DYNC2I2 FZD2 GATA3 HOXA13 IFT80 INTU PPP1R12A WDR35 WT1 HP_UVEAL_ECTROPION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_ECTROPION COL8A2 CPAMD8 GRHL2 LAMB2 OVOL2 VSX1 ZEB1 HP_UVEAL_MELANOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_MELANOMA BAP1 BRAF CYSLTR2 GNA11 GNAQ MBD4 SF3B1 STK11 HP_UVEITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEITIS AIRE ANKRD55 AP1S3 ATOH7 BCL10 BIRC3 BLM BTNL2 CAPN5 CASP10 CD247 CD27 DNASE1L3 ERCC1 ERCC4 ERCC6 ERCC8 FAS FASLG FOXP1 GJA1 GPR35 HLA-B HLA-DRB1 IKBKG IL2RA IL2RB IL36RN IL6 IRF4 LACC1 LRBA MALT1 MBTPS2 MIF MST1 NLRP1 NLRP3 NOD2 PRKCD PTPN2 PTPN22 RASGRP1 SEMA4D STAT4 STUB1 TCF4 TKT TNFAIP3 TNFRSF1A HP_U_SHAPED_UPPER_LIP_VERMILION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_U_SHAPED_UPPER_LIP_VERMILION ATRX CDK19 DPM1 EHMT1 MAPK1 ZC4H2 ZSWIM6 HP_VACUOLATED_LYMPHOCYTES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VACUOLATED_LYMPHOCYTES AGA CLN3 CLN5 FUCA1 GLB1 LYST MAN2B1 NEU1 PNPLA2 PPT1 SLC17A5 HP_VAGINAL_FISTULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_FISTULA CAPN15 CCNQ DACT1 DDB1 DYNC2H1 DYNC2I1 DYNC2I2 FREM1 IFT80 IL10RB JAK3 KIF7 LONP1 MKKS MNX1 PI4KA POLR1B POLR1C POLR1D POR RECQL4 RNU12 SALL1 SALL4 SLC35A2 SPINT2 TCOF1 TCTN3 UBR1 WDR35 HP_VAGINAL_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_NEOPLASM BUB1 BUB1B BUB3 CEP57 COL4A5 COL4A6 FH NAB2 STAT6 TRIP13 HP_VARIABLE_EXPRESSIVITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARIABLE_EXPRESSIVITY ADD3 ATL1 CANT1 CD3E CDON CHRNE COL6A1 COL6A2 COL6A3 DARS2 DEGS1 DHDDS DLX5 DPM1 EIF2S3 EYA1 F2 FBXO38 FGFR2 FIG4 FKRP GABRB2 GATA1 GFPT1 GJB6 GLE1 GLI2 GLI3 HARS1 HDAC8 KCNA1 KIF11 KRT81 KRT83 KRT86 LAMA1 MCM2 MFN2 MPC1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW NAA10 NEFH NIPA1 NUP107 PAX3 PDHX PEX2 PIGH PIGN PITX2 PLAA PLIN4 PMP22 PNPLA2 PRDM8 PRPS1 QDPR RNASEH2B RTEL1 SAMD9L SCN1A SETX SHH SLC25A26 SLC25A46 SLC2A1 SLC52A2 SLC5A2 SPAST SPR STIM1 SURF1 TBCK TENM4 TH TMEM126A TNFRSF11B TPM3 TWIST1 VWF HP_VARICOSE_VEINS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARICOSE_VEINS AEBP1 ANGPT2 ARVCF CLCNKB COL3A1 COMT ENG EPHB4 FIBP FLT4 FOXC2 G6PC3 GBA1 GJC2 GP1BB HIRA JMJD1C KIF5A NOTCH3 PIEZO1 PIK3CA RASA1 RREB1 SEC24C SLC12A3 SLC29A3 SMAD2 SMAD3 TBX1 UFD1 VHL HP_VASCULAR_CALCIFICATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_CALCIFICATION ABCC6 ABCG5 ABCG8 ADAR APOB ENPP1 ERCC6 ERCC8 GALNT3 GATA5 GBA1 HGD IFIH1 LDLR LDLRAP1 LSM11 NKX2-5 NOTCH1 NT5E PCSK9 PDGFB PDGFRB RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SLC20A2 SLC34A2 SMAD6 STAT1 TOM1 TREX1 HP_VASCULAR_DILATATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_DILATATION ABCC6 ABL1 ACTA2 ADAMTS19 ADAR AEBP1 AFF4 ALDH18A1 ALDH1A2 ALG5 ALG9 ANGPTL6 APC2 ARF1 ARFGEF2 ATP2B1 ATP6V1A ATP7A B3GALT6 B3GAT3 BAZ1B BCL7B BCR BGN BICC1 BRAF BRF1 BUD23 C12orf57 CARS1 CASZ1 CAVIN1 CHD7 CHRNG CHST3 CLIP2 COL1A1 COL1A2 COL3A1 COL4A1 COL5A1 COL5A2 CRB2 CRKL DNAJB11 DNAJC30 DNMT3A DPH5 EFEMP2 EIF4H ELN ENG ENPP1 EPHB4 ERCC6 ERCC8 ERMARD EXT1 EXT2 FARSB FBLN5 FBN1 FBN2 FKBP6 FLNA FLNB FMR1 FOCAD FOXE3 GAA GABRD GANAB GATA5 GGCX GJA5 GJA8 GMPPB GTF2I GTF2IRD1 GTF2IRD2 HEY2 HGD HLA-B HLA-DRB1 HNRNPK HSPG2 IFIH1 IFNG IFT140 IL12B IL6ST IPO8 KANSL1 KCNAB2 KCNH1 LIMK1 LMNA LOX LRP5 LSM11 LTBP1 LTBP4 LUZP1 MAP1B MAPK1 MAT2A MED12 METTL27 MFAP5 MID1 MKS1 MLX MLXIPL MMP23B MNX1 MYH11 MYH3 MYLK MYPN NCF1 NDE1 NEDD4L NF1 NKAP NKX2-5 NOD2 NODAL NOTCH1 NOTCH3 NPPA NPR3 NSD1 NSMCE2 OFD1 P4HA2 PAM16 PBX1 PCNT PDE11A PDPN PEX12 PGM3 PIGN PKD1 PKD2 PKP2 PLOD1 PLOD3 PPP1CB PRDM16 PRKAR1A PRKCSH PRKCZ PRKG1 PTEN PTPN11 PTPN22 RAF1 RAI1 RASA1 RERE RFC2 RIN2 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROBO4 RPL10 SALL4 SAMHD1 SEC61A1 SEC63 SEMA3E SETD2 SKI SLC25A24 SLC2A10 SMAD2 SMAD3 SMAD4 SMAD6 SOX10 SPECC1L SPEN SPTBN1 STAT1 STAT3 STX1A TAB2 TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TMEM270 TMEM67 TMTC3 TNNT2 TOM1 TONSL TPM2 TPM3 TREX1 TSC1 TSC2 UBE4B UBR1 VPS37D WDR19 ZMPSTE24 HP_VASCULAR_GRANULAR_OSMIOPHILIC_MATERIAL_DEPOSITION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_GRANULAR_OSMIOPHILIC_MATERIAL_DEPOSITION CLN6 CLN8 CTSD DNAJC5 HTRA1 NOTCH3 PPT1 HP_VASCULAR_NEOPLASM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_NEOPLASM ACVRL1 AGGF1 AKT1 ANTXR1 APC2 ARID1B ARL6IP6 ASXL1 ATP2B1 ATP6V1B2 BIN1 BMPR1A BRAF CALR CCDC22 CCM2 CCND1 CD96 CDON CLPB COQ6 CPLX1 CREBBP CTBP1 CTSA CYP26C1 DHCR7 DIS3L2 DISP1 DLL1 DLST DNM2 DPM1 DPYSL5 DVL1 DVL3 EIF2AK4 ELANE ENG EP300 EPHB4 ESCO2 EXTL3 FBXO28 FGF8 FGFR1 FGFR2 FGFRL1 FH FLT4 FOXH1 FZD2 GAS1 GDF2 GFI1 GLI2 GLI3 GNA11 GNA14 GNAQ GNPTAB GPC6 H4C5 HOXD13 HRAS HS2ST1 IDH1 IDH2 IFNG JAK2 KANSL1 KDM6B KDR KIF1B KLLN KRAS KRIT1 LETM1 LZTR1 MAP2K1 MAP2K2 MAX MDH2 MGAT2 MPL MSL3 MTMR14 MTOR MYF6 NDP NELFA NF1 NF2 NODAL NOTCH1 NRAS NSD1 NSD2 PDCD10 PIGG PIK3CA POR PPP1CB PTCH1 PTEN PTH1R PUF60 RASA1 RBM8A RECQL4 RET RRAS2 RYR1 SDHA SDHAF2 SDHB SDHC SDHD SEC23A SEC23B SETBP1 SETD2 SHH SHOC2 SIX3 SLC25A11 SLC26A2 SMAD4 SMARCB1 SPEN SRD5A3 SRP19 SRP54 STAC3 SUFU TBC1D24 TBX2 TCIRG1 TDGF1 TEK TET2 TFAP2A TGIF1 THSD1 TMEM127 TRPM3 TSC1 TSC2 USF3 VHL VPS35L WASHC5 WNT5A ZIC2 HP_VASCULAR_SKIN_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_SKIN_ABNORMALITY ABCC6 ABCC9 ABL1 ACP5 ACTA2 ACVRL1 ADA2 ADAM17 ADAMTS2 ADAR ADGRE2 AEBP1 AGA AGPAT2 AGXT AIP AKT1 AKT3 ALDH18A1 ALDH3A2 ALOX12B ALOXE3 ALPK1 ANAPC1 ANGPT1 ANKRD26 ANTXR1 ANTXR2 AP1S1 APOE AQP5 ARHGAP31 ARID1B ARL6IP6 ARMC5 ARPC1B ARPC4 ARVCF ARX ASXL1 ATM ATP2C1 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP7B ATR ATRX B3GALT6 BANF1 BCOR BGN BLM BLOC1S3 BLOC1S5 BMP2 BMPR2 BRAF BRD4 BSCL2 C1QB C1R C1S C2 C4A CALR CARMIL2 CASP10 CAST CASZ1 CAV1 CAVIN1 CBL CBS CCM2 CCN2 CCR6 CD109 CD19 CD28 CD81 CDH23 CDKN1B CFH CFHR1 CFHR3 CHST14 CHST8 CIB1 CLCN7 CLEC7A COG4 COG8 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COL7A1 COMT COX7B CPN1 CR2 CREB3L1 CSTA CTC1 CTLA4 CTNNB1 CTSA CTSB CYLD DAXX DCLRE1B DDB2 DDR2 DDX11 DHCR7 DIAPH1 DKC1 DLL4 DNAJC30 DNASE1L3 DOCK6 DPM1 DPP9 DSE DSG4 DSP DST DTNBP1 EGFR ELMO2 ELN ELOVL4 EMILIN1 ENG ENPP1 EOGT EPHB2 EPHB4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ETHE1 ETV6 F10 F12 F13A1 F13B F2 F5 F7 F8 FANCA FANCC FANCD2 FANCE FAS FASLG FBN1 FCGR2C FECH FERMT1 FERMT3 FGA FGB FGG FIP1L1 FKBP10 FKBP14 FLNA FLT4 FOS FOXE3 FOXP3 FRG1 FTO FUCA1 FYB1 FZD4 G6PC3 GABRD GATA1 GATA2 GBA1 GCGR GDF2 GFI1B GGCX GIMAP5 GJA1 GJA5 GJA8 GJB3 GJB4 GLA GLB1 GLUL GNA11 GNA14 GNAQ GNAS GNB2 GNPTAB GP1BA GP1BB GP6 GP9 GPR35 GSN GUCY1A1 H4C3 HBA1 HBA2 HCCS HCK HDAC8 HEATR3 HEY2 HFE HIRA HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HOXA11 HPGD HPS1 HPS3 HPS4 HPS5 HPS6 HS3ST6 HSPG2 IARS2 ICOS IFIH1 IFNG IKBKG IKZF1 IL12A IL12RB1 IL17F IL17RA IL17RC IL36RN IL7 IPO8 IRF2BP2 IRF5 ITGA2 ITGA2B ITGA3 ITGB3 JAK2 JAM2 JMJD1C KCNAB2 KCNQ2 KDSR KIAA0319L KIT KLLN KNG1 KRAS KRIT1 KRT1 KRT10 KRT14 KRT2 KRT5 KRT83 LARP7 LBR LCP2 LEMD2 LIG1 LIG4 LIPN LMAN1 LMNA LMX1B LORICRIN LOX LRP1 LRP5 LSM11 LUZP1 LYST MANBA MAP2K1 MAPK1 MASP1 MAT2A MBTPS2 MCFD2 MEFV MFAP5 MMEL1 MMP23B MPL MRE11 MS4A1 MST1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTAP MVK MYD88 MYH11 MYH9 MYLK MYOF MYORG NABP1 NAGA NAXD NBEAL2 NBN NDP NDUFB11 NDUFS2 NEU1 NF1 NFIA NFIX NFKB1 NFKB2 NHP2 NIPBL NLRC4 NLRP12 NLRP3 NOD2 NOP10 NOTCH1 NPM1 NR3C1 NSDHL NSUN2 NTRK1 NUMA1 OCLN ODC1 ORAI1 P2RY12 PARN PCNA PDCD10 PDE11A PDGFB PDGFRB PDPN PDSS1 PEPD PERP PEX6 PGAP2 PGAP3 PGM3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3R1 PLAU PLCG2 PLEC PLG PLOD1 PLOD3 PML PNKP POLA1 POLD1 POLE POLH POLR3A PORCN POU2AF1 PPARG PPP1R15B PRDM16 PRDM5 PRF1 PRKACA PRKACG PRKAR1A PRKCD PRKCZ PRKG1 PROC PROS1 PRTN3 PSMB8 PSMG2 PTDSS1 PTEN PTPN11 PTPN22 PYCR1 RAB27A RAC2 RAD21 RARA RASA1 RASGRP1 RASGRP2 RBPJ RECQL RECQL4 RERE RHOH RIN2 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF213 RNU7-1 RPS6KA3 RREB1 RTEL1 RUNX1 SAMD9 SAMHD1 SASH1 SBDS SCARB2 SCN10A SCN11A SCN9A SDHB SDHC SDHD SEC23B SEC24C SEMA4D SERPINE1 SERPINF2 SERPING1 SETD2 SETX SF3B4 SH2B3 SIK3 SKI SLC20A2 SLC25A24 SLC27A4 SLC29A3 SLC2A10 SLC35A1 SLC37A4 SLC39A13 SLC39A4 SLC51A SLFN14 SLURP1 SMAD2 SMAD3 SMAD4 SMC1A SMC3 SNX10 SOS1 SOX18 SPEN SPIB SPINK5 SPRED2 SREBF1 SRSF2 STAG1 STAT3 STAT5B STIM1 STING1 STN1 STX11 STXBP1 STXBP2 SULT2B1 SUPT16H SYK TALDO1 TBL1XR1 TBX1 TBXA2R TCF4 TCIRG1 TERC TERT TET2 TFR2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGM1 TGM5 THSD4 TINF2 TMC6 TMC8 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TNFSF15 TNPO3 TNXB TP53 TRAF3IP2 TREX1 TRPM4 TRPV3 TSPAN12 TYMS UBE4B UFD1 UNC13D USB1 USF3 USP18 USP48 USP8 UVSSA VEGFC VPS53 VWF WAS WIPF1 WNT10A WRAP53 WRN XPA XPC XPNPEP2 XPR1 XRCC4 ZBTB16 ZMPSTE24 ZNF408 ZNF469 HP_VASCULAR_TORTUOSITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_TORTUOSITY ALDH18A1 APP ATP7A COL5A1 DNAJC30 EFEMP2 FBLN5 IDH1 IPO8 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 NEK1 NT5E PCGF2 PYCR1 RASA1 SELENOI SLC2A10 SMAD3 TGFB2 TGFBR1 TGFBR2 HP_VASCULITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS ACP5 ADA2 ARPC1B C1QB C4A CASP10 CCR1 CD19 CD244 CD81 CFI CIITA CR2 CTLA4 DNASE1L3 DOCK8 ERAP1 FAS FASLG HCK HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 ICOS IFIH1 IFNGR1 IL10 IL12A IL12A-AS1 IL12B IL12RB1 IL23R IRF2BP2 KLRC4 MEFV MLX MS4A1 MVK MYD88 NFKB1 NFKB2 NFKBIL1 NLRP3 NOD2 OTULIN P4HA2 PGM3 PNP POLR3F PRKCD PRTN3 PTPN22 RASGRP1 SCN10A SCN11A SCN9A SH2D1A SLC22A4 STAT4 SYK TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TNFSF12 TREX1 UBAC2 WAS WIPF1 XIAP HP_VASCULITIS_BY_ANATOMICAL_SITE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS_BY_ANATOMICAL_SITE ARPC1B C1QB DNASE1L3 DOCK8 HCK IL12RB1 MEFV NOD2 PGM3 PNP POLR3F SYK TREX1 WAS HP_VASCULITIS_IN_THE_SKIN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS_IN_THE_SKIN ARPC1B C1QB HCK IL12RB1 PGM3 SYK TREX1 HP_VEGETATIVE_STATE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEGETATIVE_STATE AARS1 ABCD1 ARSA EPM2A ISCA2 LNPK NHLRC1 PEX2 PIGA PLA2G6 POLG PSAP SHQ1 TTC26 HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION EDN1 EPHB4 GNAI3 PLCB4 RASA1 HP_VELOPHARYNGEAL_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VELOPHARYNGEAL_INSUFFICIENCY ARHGAP29 ARHGEF38 BICRA BMP4 CDH1 COBLL1 DGCR2 DGCR6 DGCR8 DLG1 DLX4 ESS2 GRHL3 IRF6 MSX1 MYMX NECTIN1 NEK1 PDGFRA RAD21 RAI1 RIC1 RLIM SF3B4 SIAH1 TBX1 THOC6 TP63 TUBB6 TWIST1 TWIST2 UBB HP_VENOUS_INSUFFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_INSUFFICIENCY AEBP1 AGGF1 ANGPT2 ARVCF ATP7A CLCNKB COL3A1 COMT ENG EPHB4 FIBP FLT4 FOXC2 G6PC3 GBA1 GJC2 GNAQ GP1BB HIRA JMJD1C KIF5A NDP NOTCH3 PIEZO1 PIK3CA PROC PROS1 PTEN RASA1 RREB1 SEC24C SLC12A3 SLC29A3 SMAD2 SMAD3 SMOC1 TBX1 UFD1 VHL HP_VENOUS_MALFORMATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_MALFORMATION AKT1 ALX4 CCM2 GLMN KRIT1 MSX2 PDCD10 PIK3CA RASA1 TEK HP_VENOUS_THROMBOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_THROMBOSIS ACVRL1 AGGF1 AKT1 ALG6 C4A CALR CASR CBS CCR1 CD55 CFTR CPA1 CTLA4 CTNNB1 CTRC ENG EPAS1 EPOR ERAP1 F13A1 F2 F5 F8 F9 FAS FGA FGB FGG GDF2 GNAQ HABP2 HBB HLA-B HLA-DPA1 HLA-DPB1 IDH1 IDH2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KCNN4 KIF11 KLRC4 MEFV MET MMACHC MPL MTHFR MTRR NOTCH1 PDGFRA PGM1 PIEZO1 PIGA PIGM PMM2 PROC PRORP PROS1 PRSS1 PRSS2 PRTN3 PTEN PTH1R PTPN22 SAA1 SERPINC1 SERPIND1 SH2B3 SLC4A1 SMAD4 SPINK1 STAT4 TET2 TGFB2 THBD THPO TLR4 TP53 UBA1 UBAC2 HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN ALAD IGHMBP2 MT-TE TK2 TRMU HP_VENTRICULAR_ARRHYTHMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ARRHYTHMIA ABCA3 ABCC8 ABCC9 ACADVL ACTC1 ACTN2 AKAP9 ALG10B AMN ANK2 ASXL1 ATP1A3 BAG5 BMP2 BTNL2 CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CAVIN1 CDH2 CDH23 CITED2 CLCNKB CNBP COX7B CPOX CPT2 CRYAB CSF2RA CSF2RB CSRP3 CTNNA3 CUBN DHCR7 DNAJC30 DNMT3A DOHH DPP6 DSC2 DSG2 DSP DST DTNA ECE1 ELP1 EMD FBP1 FHL1 FLAD1 FMO3 FNIP1 GAA GABRA3 GATA4 GATA6 GJA5 GNAI2 GNB5 GPD1L GTPBP3 GYG1 HCCS HCN4 HLA-DRB1 HMBS HNF1A HNF4A IFNG JAG2 JPH2 JUP KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KCTD1 KIT KYNU LAMP2 LDB3 LMNA LMOD2 MAX MRPS14 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MYBPC3 MYH6 MYH7 MYL2 MYL3 MYOZ2 MYRF NAA10 NAXD NDUFAF1 NDUFB11 NDUFS2 NFIX NKX2-5 NKX2-6 NOS1AP NPPA NUP155 PGM1 PKP2 PLN PLXND1 POLG POLG2 PPOX PRKAG2 PRORP PYGM RAF1 RANGRF RET RHAG RHCE RHD RRM2B RYR1 RYR2 SCN10A SCN1B SCN2B SCN3B SCN4B SCN5A SCN9A SCNN1A SDHB SDHC SDHD SEMA3A SFTPB SFTPC SGO1 SLC12A3 SLC19A2 SLC25A20 SLC25A4 SLC4A3 SLMAP SNTA1 SPRED1 SRSF2 SRY SYNE1 SYNE2 TANGO2 TBX20 TBX5 TCAP TECRL TET2 TGFB3 TLL1 TMEM127 TMEM43 TNNC1 TNNI3 TNNI3K TOR1AIP1 TPM1 TRDN TRPM4 TSC1 TSC2 TSHR TTN TWNK UCP2 VEZF1 VHL VPS33A ZNF699 HP_VENTRICULAR_ESCAPE_RHYTHM https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ESCAPE_RHYTHM EMD FHL1 GJA5 GNB5 LMNA NPPA SCN5A SGO1 SYNE1 SYNE2 TMEM43 HP_VENTRICULAR_FIBRILLATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_FIBRILLATION ABCC9 ACADVL ACTC1 AKAP9 ALG10B BAG5 CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CLCNKB DHCR7 DPP6 DSP GABRA3 GPD1L GYG1 HCN4 KCND3 KCNE1 KCNE2 KCNE3 KCNE5 KCNH2 KCNJ18 KCNJ2 KCNJ8 KCNQ1 MYBPC3 MYL2 MYL3 NDUFB11 PKP2 PRKAG2 RANGRF RYR2 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLC12A3 SLC4A3 SLMAP SNTA1 TANGO2 TECRL TNNC1 TRPM4 HP_VENTRICULAR_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_HYPERTROPHY ABCA1 ABCC6 ABCC9 ACTC1 ACTN2 ADAM17 AGL AIP ALG12 ALPK3 ARL6 ARSK ATP13A3 ATP6AP2 ATP6V1E1 B3GAT3 BBS1 BIN1 BMPR2 C1QBP CACNA1D CCDC28B CHST3 CLN3 COG1 COL1A2 COLQ COQ7 COQ9 COX16 COX6B1 COX7B CPT2 DEF6 DMD DTNA DYSF EGFR ENPP1 EPG5 ESPN FHL1 FKRP FLNC FOXF1 FZR1 GAA GLA GLRX5 GNPTAB GPC3 GPC4 GPR101 GTPBP3 GYG1 GYS1 HADHA HADHB HCN4 HSD11B2 IPO8 JPH2 KCNJ5 KMT2D LAMB2 LDB3 LMNA LOX LRPPRC LTBP4 LZTR1 MEN1 MOGS MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTX2 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYOZ2 MYPN MYRF NAXD NDUFA11 NDUFS2 NEXN NHLRC2 NKX2-5 NKX2-6 NOD2 NONO NOTCH1 NPHP3 NPPA NSMCE2 PIGN PLN PLXND1 POLG POLG2 POMT1 POMT2 PRKAG2 PSEN1 PSEN2 RIT1 RNU7-1 RPL5 RRM2B RYR1 SCN5A SCO1 SDHA SDHAF1 SDHB SDHD SELENON SFTPB SGCD SGCG SLC25A12 SLC25A20 SLC25A24 SLC25A4 SLC2A10 SMAD2 SMAD3 SPEG STAMBP SVIL TALDO1 TCAP TLL1 TNNC1 TNNI3 TNNT2 TPK1 TRMT10C TTN TTR TWNK VIPAS39 VPS33B WAC WDR35 ZMPSTE24 ZNF462 ZNF687 HP_VENTRICULAR_PREEXCITATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_PREEXCITATION ATP1A3 BMP2 DNAJC30 FNIP1 GAA GTPBP3 IFNG JAG2 LAMP2 MRPS14 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT NDUFAF1 NDUFS2 PRKAG2 TCAP TNNI3 TSC1 TSC2 HP_VENTRICULAR_SEPTAL_HYPERTROPHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_SEPTAL_HYPERTROPHY ALPK3 BSCL2 CSRP3 GLA GYG1 LEMD2 MAP2K2 MTFMT MYBPC3 MYL2 MYPN SYNE1 TNNT2 HP_VENTRICULAR_TACHYCARDIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_TACHYCARDIA ABCC9 ACADVL ACTC1 AKAP9 BAG5 BTNL2 CACNA1C CACNA1S CACNA2D1 CACNB2 CALM1 CALM2 CALM3 CASQ2 CDH2 CPT2 CRYAB CSRP3 CTNNA3 DSG2 DSP GNAI2 GPD1L GYG1 HCN4 HLA-DRB1 JPH2 JUP KCND3 KCNE3 KCNE5 KCNJ2 KCNJ5 KCNJ8 LAMP2 LMOD2 MT-CYB MYH6 MYH7 MYL2 MYOZ2 NAA10 NDUFB11 NPPA PKP2 RANGRF RYR1 RYR2 SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLC12A3 SLC25A20 SLMAP TANGO2 TECRL TMEM43 TPM1 TRDN TRPM4 TTN HP_VENTRICULOMEGALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULOMEGALY AARS1 AARS2 ABCD1 ACD ACP5 ACTA2 ACTB ACTG1 ADAR ADAT3 ADGRG1 ADNP AFF3 AHCY AHI1 AKT3 ALDH6A1 ALDH7A1 ALG12 ALG2 ALG3 ALG8 ALPK3 AMPD2 ANKLE2 ANKRD11 ANTXR1 AP1S2 AP4B1 AP4E1 AP4M1 APC2 ARHGAP31 ARID1A ARID1B ARID2 ARMC9 ARX ASNS ASPM ASXL1 ASXL2 ASXL3 ATP11A ATP1A1 ATP1A3 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATXN1 ATXN2 ATXN3 B3GALNT2 B3GLCT B4GALT1 B4GAT1 B9D1 B9D2 BCAP31 BCOR BGN BICD2 BLTP1 BMP2 BMP4 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BUB1 BUB1B BUB3 C12orf57 C2CD3 CARS1 CASK CASZ1 CC2D2A CCDC103 CCDC174 CCDC22 CCDC39 CCDC40 CCDC65 CCDC88A CCDC88C CCND2 CCNO CDC42 CDC42BPB CDK5RAP2 CDK6 CDKN1C CELF2 CENPE CENPJ CEP120 CEP135 CEP152 CEP290 CEP57 CEP63 CFAP221 CFAP298 CFAP300 CFAP74 CHD3 CHD4 CHD7 CHST14 CILK1 CIT CLCN3 CLCN4 CLP1 CLTC COASY COG1 COG4 COG5 COG6 COG8 COL18A1 COL3A1 COL4A1 COL4A2 COPB2 COX16 COX20 COX6B1 COX8A CPLX1 CPT2 CRB2 CRPPA CSF1R CSGALNACT1 CSPP1 CTBP1 CTCF CTDP1 CTNNB1 CTSF CUL4B CUX1 CYFIP2 D2HGDH DAG1 DCHS1 DCX DDX3X DEAF1 DENND5A DHCR24 DHCR7 DHX30 DIAPH1 DISC1 DKC1 DLL1 DMPK DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DNM1 DNMT1 DNMT3A DOCK6 DOHH DOK7 DPF2 DPH1 DPH2 DPM1 DPYSL5 DRC1 DSE DTYMK DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EBP EHMT1 EIF2B4 EIF2B5 EIF2S3 EMG1 EML1 EOMES ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 EVC EVC2 EXOC2 EXT1 EXTL3 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBN1 FBP1 FBXL4 FBXO28 FBXW11 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLI1 FLII FLVCR2 FOXF1 FOXJ1 FOXP3 FOXRED1 FTO GABBR2 GABRD GAN GAS2L2 GAS8 GBA1 GCDH GET4 GFM2 GJB2 GJB6 GLB1 GLI3 GLUL GMPPB GNAO1 GNB2 GON7 GOSR2 GPC3 GPC4 GPSM2 GRIA3 GRIK2 GRIN1 GRM1 GRN GTF2E2 GTF2H5 GTPBP2 H1-4 H3-3A HDAC4 HDAC8 HECW2 HEPACAM HERC1 HERC2 HIBCH HK1 HNRNPK HNRNPU HRAS HS6ST2 HSD17B4 HSPG2 HTRA2 HTT HUWE1 HYDIN HYLS1 IBA57 IDH1 IFIH1 IFT140 IFT172 IFT43 IFT80 IGF2 INPP5E INTU IQSEC2 ISCA1 ITPR1 JAM2 JAM3 KANK1 KANSL1 KAT8 KATNB1 KCNAB2 KCNJ6 KCNK4 KCNN2 KCNQ1 KCNQ1OT1 KCTD1 KDM6A KIAA0586 KIAA0753 KIDINS220 KIF14 KIF1A KIF21A KIF26A KIF5A KIF7 KIFBP KLHL15 KMT2C KMT2D KMT5B KNL1 KNSTRN KPNA3 KPTN KRAS KRT14 KRT5 L1CAM LAMA1 LARGE1 LETM1 LIPT1 LIPT2 LMNB1 LMNB2 LONP1 LRRC32 LRRC56 LSM11 LUZP1 MAB21L1 MAD2L2 MAF MAG MAGEL2 MAN2C1 MAPKAPK5 MAPRE2 MARS2 MAST1 MBTPS2 MCIDAS MCM7 MCPH1 MED12 MED25 MEF2C METTL5 MFSD2A MID1 MINPP1 MKRN3 MKS1 MMP23B MOCS1 MOCS2 MPDU1 MPDZ MPLKIP MRE11 MRPS16 MSL3 MT-ATP6 MTHFR MTHFS MTM1 MTOR MTRR MUSK MYMK MYMX MYOD1 MYORG NAA10 NADK2 NAE1 NANS NAXD NAXE NCAPD3 NCAPG2 NDE1 NDN NDST1 NDUFA6 NDUFA8 NDUFB11 NDUFS2 NDUFS8 NEK1 NEK10 NEXMIF NFIA NFIB NFIX NGLY1 NHLRC2 NIPA1 NIPA2 NIPBL NME5 NME8 NOTCH2NLC NPAP1 NPHP3 NRAS NRCAM NSD1 NSD2 NUP188 NUP37 NUP88 OCA2 OCLN OCRL ODAD1 ODAD2 ODAD3 ODAD4 ODC1 OFD1 OGDH OGDHL OPHN1 OSGEP OSTM1 OTUD5 OTUD6B PAFAH1B1 PALB2 PARN PAX6 PCDH19 PCNT PDE2A PDGFB PDGFRB PDHA1 PDHB PDHX PDPN PGAP1 PGAP2 PGAP3 PHACTR1 PHC1 PHGDH PI4KA PIEZO2 PIGA PIGB PIGN PIGO PIGQ PIK3CA PIK3CD PIK3R2 PLAA PLCH1 PLG PLOD3 PLPBP PMM2 PMPCA PNKP POLR2A POLR3A POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1CB PPP1R21 PPP2CA PPP2R1A PPP2R5D PRDM16 PRKCZ PRNP PSAP PSAT1 PTCH1 PTDSS1 PTEN PTPN23 PUF60 PUS3 PUS7 PWAR1 PWRN1 PYCR2 QARS1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAI1 RAPSN RERE RFWD3 RHOBTB2 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF213 RNU12 RNU4ATAC RNU7-1 ROBO1 ROGDI RPGR RPGRIP1 RPGRIP1L RPS6KA3 RRAS2 RSPH1 RSPH3 RSPH4A RSPH9 RTEL1 RTTN RXYLT1 SAMHD1 SARS1 SASS6 SATB1 SCO2 SEC31A SEMA3E SEPSECS SETBP1 SETD2 SH2B1 SHANK3 SHH SHMT2 SHPK SHQ1 SIM1 SIN3A SIN3B SKI SLC12A6 SLC18A3 SLC20A2 SLC25A1 SLC25A19 SLC31A1 SLC35A2 SLC39A8 SLC6A9 SLC9A6 SLITRK2 SLX4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SNIP1 SNORD115-1 SNORD116-1 SNRPN SON SOX11 SOX4 SOX9 SPAG1 SPATA5L1 SPEF2 SPEN SPG11 SPRED2 SPTBN1 STAC3 STIL STK36 STRADA SUCLA2 SUMF1 TAF1 TAF13 TAF8 TAOK1 TAPT1 TARS1 TBC1D24 TBC1D2B TBCD TBCE TBCK TBL1XR1 TCF4 TCTN1 TCTN2 TCTN3 TERT TET3 TGDS THOC2 THOC6 TIMMDC1 TINF2 TMCO1 TMEM107 TMEM138 TMEM147 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TMX2 TNFRSF11A TNNI3 TNPO2 TOE1 TPRKB TRAF7 TRAIP TRAPPC10 TRAPPC12 TRAPPC14 TRAPPC6B TREM2 TREX1 TRIM37 TRIM71 TRIP13 TRPM3 TRPS1 TRPV6 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSFM TTC12 TTC26 TTC5 TUBA1A TUBB TUBB2A TUBB2B TUBB3 TUBG1 TXNDC15 TYROBP UBE2T UBE3B UBE4B UBTF UGDH USP18 USP7 USP9X VPS11 VPS13A VPS35L VPS37A VPS51 VPS53 VRK1 VSX1 WAC WARS1 WARS2 WASF1 WASHC5 WDR26 WDR35 WDR45B WDR62 WDR73 WDR81 WLS XPR1 XRCC2 XRCC4 YARS1 YIPF5 YME1L1 YWHAE YY1 ZBTB11 ZBTB20 ZC4H2 ZEB2 ZIC1 ZIC2 ZMIZ1 ZMYND10 ZNF148 ZNF292 ZNF335 ZNF462 ZNF699 ZNHIT3 ZSWIM6 HP_VERRUCAE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERRUCAE ATP2A2 BLNK CARMIL2 CD4 CD79A CD79B CIB1 CXCR4 DCLRE1C DOCK8 ECM1 FCN3 GATA2 IGHM IGLL1 IKBKG IL7 IVNS1ABP LRRC8A PIK3R1 RHOH SASH3 SLC39A7 SPI1 STK4 TCF3 TMC6 TMC8 HP_VERTEBRAL_ARCH_ANOMALY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_ARCH_ANOMALY ANKRD11 CHST3 DDRGK1 EXOC6B FGFR3 GNPTAB HNRNPR JAG1 KIF22 LTBP3 NPR2 PDE4D PRKAR1A RMRP RNU4ATAC SLC35D1 SMAD4 TONSL HP_VERTEBRAL_CLEFTING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_CLEFTING ALDH1A2 ALG12 ALPL ARSL CHRNG CHST3 COG1 COL11A2 COL2A1 CSGALNACT1 FLNB FOXF1 GNPAT HAAO HSPA9 HSPG2 IARS2 IPO8 KDM6A KMT2D LAMA5 LONP1 MBTPS2 MESP2 NKX3-2 OTUD5 PEX7 RAD21 RIPPLY2 SC5D SIX6 SLC10A7 SLC26A2 SOX2 SOX5 STAG2 TBX6 TBXT TRIP11 TRPV4 WBP11 HP_VERTEBRAL_COMPRESSION_FRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_COMPRESSION_FRACTURE AIP ATRX BRAF CCND1 CDH23 CREB3L1 CRTAP DDRGK1 DKK1 DNAJC21 EFL1 FKBP10 GBA1 GORAB LRP5 MESD MMP2 NFATC2 NOTCH2 NR3C1 P3H1 P4HB PYCR1 SBDS SCARB2 SERPINF1 SERPINH1 SMS SPARC SRP54 TENT5A TNFRSF11A TP53 UROS USP48 USP8 WNT1 WNT3A XYLT2 HP_VERTEBRAL_FUSION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_FUSION ABCC6 ACVR1 AEBP1 AFF4 ANKRD11 ASH1L ASXL2 BMPER BRPF1 CDH11 CHD4 CHN1 CHRNA1 CHRND CHRNG COL2A1 CPLX1 CTBP1 DCC DKK1 DLL3 DNAL4 ENPP1 FANCI FGD1 FGFR2 FGFRL1 FKRP FLNA FLNB FN1 FUZ GDF3 GDF5 GDF6 GPC3 GPC4 HES7 HGD IL1RN KANSL1 LETM1 MAFB MAP3K7 MEOX1 MESP2 MYH3 MYO18B NADSYN1 NOG NOTCH3 NSD2 NTN1 PTCH1 PTCH2 PUF60 RAD51 RBM8A ROR2 SALL4 SF3B2 SIX6 SMAD4 SOX2 SOX5 SUFU TBX6 TMCO1 VANGL1 WBP11 ZIC3 HP_VERTEBRAL_SEGMENTATION_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_SEGMENTATION_DEFECT ABCC6 ACTB ACVR1 AEBP1 AFF4 ANKRD11 ASH1L ASXL2 ATP6V1B2 ATRX B3GLCT BAZ1B BCL7B BMPER BRPF1 BUD23 CAPN15 CCDC22 CDC45 CDH11 CDK10 CHD4 CHD7 CHN1 CHRM3 CHRNA1 CHRND CHRNG CLIP2 COG1 COL2A1 CPLX1 CTBP1 DCC DKK1 DLK1 DLL3 DNAJC30 DNAL4 DPP9 DPYSL5 DVL1 DVL3 EBP EIF4H EIF5A ELN ENPP1 FANCB FANCI FGD1 FGFR1 FGFR2 FGFRL1 FKBP6 FKRP FLNA FLNB FN1 FRAS1 FREM2 FUZ FZD2 GDF3 GDF5 GDF6 GLI3 GPC3 GPC4 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 H3-3B HES7 HGD HNF1B HNRNPK HOXD13 HRAS IKBKG IL1RN JAG1 KANSL1 KDM6A KMT2D KRAS KYNU LETM1 LFNG LIMK1 LRP4 LYSET MADD MAFB MAP3K7 MBD5 MBTPS2 MEG3 MEOX1 MESP2 METTL27 MID1 MLXIPL MNX1 MYH3 MYO18B NADSYN1 NALCN NCF1 NOG NOTCH3 NRAS NSD2 NTN1 NXN ORC1 PAICS POR PTCH1 PTCH2 PTDSS1 PUF60 RAD21 RAD51 RBM8A RFC2 RIPPLY2 ROR2 RTL1 SALL4 SEMA3E SF3B2 SIX6 SMAD4 SON SOX2 SOX5 STAG2 STX1A SUFU TAF1 TBC1D24 TBL2 TBX2 TBX6 TMCO1 TMEM270 TNNI2 TNNT3 TPM2 VANGL1 VPS35L VPS37D WASHC5 WBP11 WNT4 WNT5A WNT7A ZIC3 HP_VERTEBRAL_WEDGING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_WEDGING ARSB BGN CANT1 CCN6 COL2A1 FANCC FKBP10 FN1 FZD2 IFITM5 IFT43 MBTPS2 NPR2 POP1 PTCH1 PTCH2 SEC23A SUFU TRPV4 HP_VERTICAL_NYSTAGMUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_NYSTAGMUS AHDC1 ALX4 ANO10 ATP1A2 CACNA1A COQ2 ECHS1 FAT2 FGF14 MRE11 NDUFS8 PET100 PEX5 PIGN PIGQ PLA2G6 PRRT2 RFC1 SCN1A TMEM106B TTBK2 TTR HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY AASS ACOX2 AGTPBP1 ALDH4A1 ATP13A2 ATXN1 CCDC88C DCTN1 DLAT EIF2AK2 FTL KCNC3 MAPT MTFMT NAXE NEK9 NOP56 NPC1 NPC2 PIGT PLA2G6 PLP1 POLG POLR3A POLR3B SPG7 SQSTM1 TWNK VPS13A HP_VERTIGO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTIGO ABCC9 ADA2 AIFM1 AIP ATP1A2 BCOR BRAF C4A CACNA1A CACNA1G CACNB4 CALM1 CALM2 CALM3 CASQ2 CCND1 CCR1 CDH23 CLCNKB CNNM2 COCH COL3A1 CTNNB1 DBH DKK1 DLST DNMT3A EPAS1 EPOR ERAP1 FAS FGF14 FH FIP1L1 FLI1 FOXI1 GATA2 GATA4 GATA5 GATA6 GCDH GCGR GJA5 GLA GYG1 HLA-B HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R IRF2BP2 JAK2 JUP KCNA1 KCNA5 KCNE1 KCNE2 KCNJ10 KCNJ2 KCNJ3 KCNJ5 KCNQ1 KCNQ2 KIF1B KLRC4 LRP4 MAX MDH2 MED12 MEFV MEN1 MPL MVK MYD88 MYL2 MYL4 MYO7A NABP1 NAGA NF1 NF2 NKX2-5 NKX2-6 NOP56 NPM1 NPPA NUMA1 NUP155 P4HA2 PDGFB PITX2 PML PRKAR1A PRRT2 PTPN22 RARA RET RYR1 RYR2 SCN1A SCN1B SCN2A SCN2B SCN3B SCN4B SCN5A SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SLC12A3 SLC1A3 SLC25A11 SLC26A4 STAT3 STAT4 STAT5B SUFU TBL1XR1 TECRL TET2 THPO TLR4 TMEM127 TNFRSF1A TPK1 TRDN TRPM4 TTN UBAC2 VHL VSX1 ZBTB16 HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION ABCD1 ACBD5 ACOX1 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPLA2 HP_VERY_LOW_VISUAL_ACUITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LOW_VISUAL_ACUITY COL8A2 GRHL2 OVOL2 VSX1 ZEB1 HP_VESTIBULAR_HYPOFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_HYPOFUNCTION ARSG CDH23 CEP78 CIB2 CLRN1 ESPN ESRP1 HARS1 KARS1 MT-TS2 MYO7A OTOG OTOGL PCDH15 SLC9A1 USH1C USH1G WHRN HP_VESTIBULAR_SCHWANNOMA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_SCHWANNOMA COQ6 HRAS KARS1 LZTR1 NF2 SMARCB1 SPRED1 HP_VIRAL_ENCEPHALITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_ENCEPHALITIS CD27 CD40LG DBR1 HYOU1 IRF3 NCKAP1L SNORA31 STAT1 TBK1 TICAM1 TLR3 TRAF3 UNC93B1 HP_VIRAL_HEPATITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_HEPATITIS APC AXIN1 BTK CASP8 CIITA CTNNB1 IGF2R IGHG2 IGKC MET PDGFRL PIK3CA RFX5 RFXANK RFXAP TP53 HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS ALDOA DGUOK LPIN1 MT-CO1 MT-CO3 OBSCN SEPSECS TSEN15 TSEN2 TSEN34 TSEN54 HP_VISCERAL_ANGIOMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISCERAL_ANGIOMATOSIS ACVRL1 AKT1 ENG FGFR1 FGFR2 GDF2 GNAQ IDH1 IDH2 KRAS PIK3CA PTEN PTH1R SLC26A2 SMAD4 TEK HP_VISUALLY_INDUCED_SEIZURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUALLY_INDUCED_SEIZURE CACNB4 CHD2 CILK1 CLCN2 CPA6 EFHC1 GABRA1 GABRD GABRG2 JRK KCNQ3 KCTD7 PCDH19 SCN1A SCN1B SCN2A SCN9A SLC9A6 HP_VISUAL_ACUITY_TEST_ABNORMALITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_ACUITY_TEST_ABNORMALITY AKT1 APC BAP1 C1QTNF5 COL25A1 DHX38 KIF21A LRP5 NF2 PDGFB PHOX2A PIK3CA POU3F4 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TUBA1A TUBB2B TUBB3 HP_VISUAL_AGNOSIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_AGNOSIA ABCD1 CEP85L CHMP2B GRN MAPT PSEN1 TMEM106B TREM2 HP_VISUAL_FIELD_DEFECT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIELD_DEFECT AARS1 ABCA4 ACO2 ADA2 ADGRV1 AGBL5 AIP AIPL1 AIRE AKT1 AKT3 ALMS1 AMACR ANGPTL6 ARHGEF18 ARL3 ARL6 ARSG ASB10 ATF6 ATP1A2 ATRX BAP1 BBS1 BBS2 BEST1 BMPR1A BRAF BTD C1QTNF5 CACNA1A CACNA1F CACNA2D4 CC2D2A CCDC28B CDH23 CDHR1 CEP78 CERKL CFAP410 CFAP418 CFH CFI CHM CIB2 CLCN2 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 COL18A1 COL25A1 COL3A1 COL4A1 CRX CTNNB1 CWC27 CYP1B1 CYP4V2 DHDDS DLAT DNAJC30 DNM1L EFEMP1 EIF2B3 ELOVL1 ELOVL4 ENG EPCAM ESPN EYS FA2H FAM161A FAN1 FDXR FLVCR1 FXN GNAQ GNAT1 GNAT2 GPR101 GRK1 GUCY2D HARS1 HGSNAT HK1 HKDC1 HLA-A HLA-B HLA-DRB1 IBA57 IDH3A IDH3B IDS IFT140 IFT172 IMPDH1 IMPG1 IMPG2 ITM2B JAK2 KCNJ13 KCNV2 KIF21A KIF3B KIZ KRAS LCA5 LRAT MAK MEN1 MERTK MFN2 MFSD8 MLH1 MLH3 MMP19 MPL MSH2 MSH6 MSX2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTOR MTRFR MTTP MYO7A MYOC NDUFS2 NF2 NR2E3 NR2F1 NR3C1 NRL OAT OFD1 OPA1 OPA3 P4HA2 PCDH15 PDE6A PDE6C PDE6G PDE6H PDGFB PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHOX2A PIK3CA PITPNM3 PMS1 PMS2 POC1B POLG POMGNT1 POU3F4 PROM1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRT2 PTPN22 RAB28 RAX2 RBP3 RDH11 RDH5 REEP6 RGR RHO RLBP1 RNU4ATAC ROM1 RP1 RP2 RP9 RPE65 RPGR RPS20 RRM2B RTN4IP1 SAG SCN1A SDHA SEMA4A SETD5 SH3BP2 SH3TC2 SLC25A46 SLC6A6 SLC7A14 SMARCB1 SMARCE1 SMO SOST SPATA7 SUFU TERT TGFBR2 TGFBR3 THPO THSD1 TIMM8A TIMP3 TMEM126A TOPORS TP53 TRAF7 TREX1 TRNT1 TUBA1A TUBB2B TUBB3 TULP1 UNC119 USH1C USH1G USH2A USP48 USP8 VCAN WFS1 WHRN YARS1 ZNF408 ZNF513 HP_VISUAL_FIXATION_INSTABILITY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIXATION_INSTABILITY AMPD2 ASAH1 ASPA CCDC88A CLCN3 CLP1 ITPR1 PET100 RNF13 SLC39A8 VPS4A HP_VISUAL_HALLUCINATIONS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_HALLUCINATIONS ATP13A2 CACNA1A CLN3 CLN6 DEPDC5 DNAJC13 DNAJC5 EIF4G1 EPM2A FBXO7 FIG4 GBA1 GIGYF2 LGI1 LRRK2 NHLRC1 NPRL2 NPRL3 PUS3 RELN SNCA SNCB VPS35 HP_VISUAL_IMPAIRMENT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_IMPAIRMENT AAAS AARS1 ABCA1 ABCA4 ABCC6 ABCD1 ACO2 ACTB ACVRL1 ADA2 ADAM9 ADAMTS10 ADAMTSL4 ADARB1 ADGRV1 ADNP AFF3 AFF4 AFG3L2 AGBL1 AGBL5 AGO2 AGTPBP1 AHDC1 AHI1 AHR AIFM1 AIMP1 AIP AIPL1 AIRE AKT1 AKT3 ALDH3A2 ALG2 ALG3 ALMS1 ALPK1 AMACR AMPD2 ANGPTL6 ANKH ANKRD11 ANKRD55 ANOS1 ANTXR1 AP1G1 AP1S2 AP3B1 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC APOE ARHGDIA ARHGEF18 ARHGEF2 ARID1A ARID1B ARID2 ARL2 ARL2BP ARL3 ARL6 ARMC9 ARNT2 ARPC4 ARSA ARSG ARX ASB10 ASNS ASPA ASPH ATF6 ATIC ATN1 ATOH7 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MK ATP6V0A1 ATPAF1 ATPAF2 ATRX ATXN7 B3GALNT2 B3GAT3 B3GLCT B4GAT1 BAP1 BAZ1B BBS1 BBS2 BBS5 BCL10 BCL7B BCOR BDNF BEST1 BIRC3 BLOC1S3 BLOC1S5 BMP4 BMPR1A BOLA3 BRAF BRAT1 BRCA1 BRCA2 BRIP1 BTD BTNL2 BUD23 C19orf12 C1QBP C1QTNF5 C4A CA2 CA4 CABP4 CACNA1A CACNA1B CACNA1D CACNA1E CACNA1F CACNA1I CACNA2D1 CACNA2D4 CAMK2A CAMK2B CAMSAP1 CAPN5 CARS2 CASK CASZ1 CBS CC2D2A CCDC141 CCDC28B CCDC47 CCND1 CCR1 CD109 CD247 CDC42 CDC42BPB CDH23 CDH3 CDHR1 CDK8 CDKL5 CDON CEACAM16 CEP120 CEP164 CEP250 CEP290 CEP41 CEP78 CEP85L CERKL CERT1 CFAP410 CFAP418 CFH CFHR1 CFHR3 CFI CHD3 CHD7 CHKA CHM CHMP1A CHN1 CHP1 CHRDL1 CHST3 CHST6 CIB2 CKAP2L CLCC1 CLCN2 CLCN4 CLCN6 CLCN7 CLEC3B CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLRN1 CLTC CNGA1 CNGA3 CNGB1 CNGB3 CNNM4 CNTNAP1 COG5 COL11A1 COL17A1 COL18A1 COL25A1 COL2A1 COL3A1 COL4A1 COL7A1 COL8A2 COL9A1 COL9A2 COL9A3 COPB2 COQ2 COQ7 COX11 COX6B1 COX7B CPSF3 CRB1 CREBBP CRLS1 CRPPA CRX CRYAA CRYBB1 CRYGC CSF1R CSPP1 CTC1 CTLA4 CTNNA1 CTNNB1 CTNS CTSD CWC27 CYP1B1 CYP27A1 CYP4V2 CYSLTR2 D2HGDH DCC DCN DCT DDR2 DDX3X DHDDS DHX37 DHX38 DIAPH1 DISP1 DLAT DLD DLL1 DNAJC30 DNM1L DNMBP DOCK6 DOCK7 DOHH DOLK DPF2 DPM1 DPP6 DRAM2 DTNBP1 DTYMK DUSP6 DYRK1A EARS2 EBP EFEMP1 EIF2B1 EIF2B3 EIF4H ELMO2 ELN ELOVL1 ELOVL4 ELP4 EMC1 ENG ENPP1 EPCAM EPM2A EPRS1 ERAP1 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERF ESPN EXOSC3 EXOSC8 EXOSC9 EYS FA2H FAM161A FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FBN1 FBN2 FBXW7 FCSK FDFT1 FDX2 FDXR FEZF1 FGF12 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FKBP6 FKRP FKTN FLNA FLRT3 FLVCR1 FN1 FOXC1 FOXE3 FOXH1 FOXL2 FOXP1 FOXRED1 FRAS1 FREM2 FRMD7 FSCN2 FXN FZD4 GABRA2 GABRB1 GABRB2 GABRD GALC GAS1 GATA1 GATA2 GDF2 GDF3 GDF6 GIPC3 GJA1 GJB2 GJB6 GLB1 GLI2 GLRX5 GLYCTK GM2A GMPPA GMPPB GNA11 GNAQ GNAS GNAT1 GNAT2 GNB1 GNB3 GNS GP1BA GP1BB GPAA1 GPR101 GPR143 GPR179 GRHL2 GRIK2 GRIN1 GRIN2D GRIP1 GRK1 GRM6 GRM7 GRN GRXCR2 GSN GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GTPBP3 GUCA1A GUCA1B GUCY2D GUSB H1-4 H3-3A H4C3 H4C9 HADHA HARS1 HCCS HDAC4 HECW2 HESX1 HEXA HEXB HGSNAT HIKESHI HK1 HKDC1 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HLA-DRB1 HMCN1 HMX1 HPDL HPS1 HPS3 HPS4 HPS5 HPS6 HS6ST1 HSD17B10 HSD17B4 HSPG2 IBA57 IDH3A IDH3B IDS IFNGR1 IFT140 IFT172 IFT43 IFT74 IFT88 IGBP1 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL17RD IL23R IL2RA IL2RB IMPDH1 IMPG1 IMPG2 INPP5E INVS IQCB1 IQSEC1 ISCA2 ITGA2 ITGA2B ITGB3 ITM2B ITPR1 JAK2 KANSL1 KARS1 KAT6A KCNAB2 KCNJ13 KCNN2 KCNQ2 KCNT1 KCNV2 KCTD7 KERA KIAA0586 KIAA1549 KIDINS220 KIF11 KIF14 KIF1A KIF1C KIF21A KIF3B KIF5A KIZ KLHL7 KLRC4 KMT2B KMT2D KRAS KRT12 LAMA1 LAMB2 LAMC3 LAMP2 LARGE1 LCA5 LCAT LETM1 LIM2 LIMK1 LMBRD2 LMNB1 LONP1 LRAT LRIT3 LRMDA LRP2 LRP5 LRPAP1 LSS LTBP2 LUZP1 LYRM7 LYST LZTFL1 MAB21L1 MACF1 MAD2L2 MAF MAFB MAG MAK MALT1 MAP3K7 MAPK8IP3 MAPKAPK3 MARK3 MBD5 MC1R MCOLN1 MECR MED12 MED25 MEFV MEN1 MERTK METTL27 MFF MFN2 MFRP MFSD8 MICOS13 MICU1 MIR140 MIR184 MIR204 MKS1 MLH1 MLH3 MLXIPL MMACHC MMP1 MMP19 MMP23B MPDZ MPL MSH2 MSH6 MSX2 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TC MT-TE MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT MTHFS MTOR MTR MTRFR MTRR MTTP MYO7A MYOC NAA10 NADK2 NAGA NAPB NARS2 NBAS NCAPG2 NCF1 NDE1 NDNF NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEDD4L NEK2 NEU1 NEUROD2 NF1 NF2 NFIX NHLRC1 NHLRC2 NHS NLRP1 NLRP3 NMNAT1 NOD2 NODAL NOG NOTCH3 NPHP1 NPHP3 NPHP4 NR2E3 NR2F1 NR3C1 NRL NSMCE2 NTRK2 NUBPL NUS1 NYX OAT OCA2 OCRL OFD1 OGDHL OGT OPA1 OPA3 OPN1LW OPN1MW OPN1SW OSGEP OSTM1 OTX2 OVOL2 P3H2 P4HA2 P4HTM PAK2 PALB2 PANK2 PANK4 PARS2 PAX2 PAX6 PCARE PCDH12 PCDH15 PCYT1A PCYT2 PDE4D PDE6A PDE6B PDE6C PDE6G PDE6H PDGFB PDHA1 PDPN PDSS2 PDXK PDZD7 PDZD8 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGK1 PHF6 PHGDH PHOX2A PHYH PI4KA PIEZO2 PIGA PIGB PIGN PIGP PIGQ PIGS PIGT PIGU PIGY PIK3CA PIK3R2 PITPNM3 PITX2 PITX3 PLA2G5 PLA2G6 PLCB1 PLCH1 PLEKHM1 PLG PLK4 PLOD1 PLXND1 PMPCB PMS1 PMS2 PNPLA6 PNPT1 POC1B POGZ POLA1 POLG POLG2 POLR1B POLR1C POLR1D POLR2A POLR3GL POMGNT1 POMK POMT1 POMT2 PORCN POU3F4 PPP1R12A PPP2CA PPP2R1A PPP3CA PPT1 PQBP1 PRCD PRDM16 PRDM5 PRDX1 PRIMPOL PRKCZ PRKDC PRNP PROK2 PROKR2 PROM1 PRORP PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRR12 PRRT2 PRSS56 PRTN3 PRUNE1 PSAP PSMD12 PTCH1 PTPN2 PTPN22 PUF60 PUS3 PXDN PYCR2 RAB11B RAB18 RAB28 RAB3GAP1 RAB3GAP2 RAC1 RAD51 RAD51C RALGAPA1 RAX2 RBP3 RBP4 RCBTB1 RD3 RDH11 RDH12 RDH5 REEP6 RERE REV3L RFC2 RFT1 RFWD3 RGR RGS9 RGS9BP RHO RHOA RIC1 RIMS1 RIMS2 RLBP1 RMRP RNASEH1 RNF13 RNU12 RNU4ATAC ROM1 RORA RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPS20 RRAS2 RRM2B RS1 RTN4IP1 SAG SALL2 SALL4 SAR1B SARDH SCAPER SCN1A SCN2A SCN3A SCN8A SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHD SELENOI SEMA3A SEMA4A SEPSECS SETBP1 SETD1A SETD5 SF3B1 SF3B2 SFXN4 SH3BP2 SH3TC2 SHANK3 SHH SIX3 SKI SLC12A5 SLC19A2 SLC1A3 SLC24A1 SLC24A5 SLC25A1 SLC25A19 SLC25A22 SLC25A4 SLC25A46 SLC31A1 SLC35A2 SLC38A3 SLC38A8 SLC39A14 SLC39A4 SLC45A2 SLC4A11 SLC4A2 SLC52A2 SLC6A6 SLC7A14 SLX4 SMAD4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMCHD1 SMG9 SMO SNRNP200 SNRPN SNX10 SOBP SON SOST SOX10 SOX11 SOX2 SOX3 SOX4 SPATA5 SPATA5L1 SPATA7 SPEN SPG11 SPRY4 SPTBN1 SPTBN4 SRD5A3 SREBF1 SRY SSBP1 ST3GAL5 STAG2 STAT4 STIL STX1A STX3 SUCLA2 SUFU SUMF1 SUOX SYNJ1 SYT1 TACR3 TACSTD2 TANGO2 TAOK1 TASP1 TAT TBC1D20 TBC1D24 TBC1D2B TBCK TBL2 TBX1 TCF4 TCIRG1 TCOF1 TDGF1 TDO2 TEK TELO2 TENM3 TERT TFE3 TFG TGFBI TGFBR2 TGFBR3 TGIF1 THOC2 THPO THSD1 TIMM8A TIMMDC1 TIMP3 TK2 TLCD3B TLR4 TMEM126A TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM270 TMEM53 TMEM67 TMEM98 TNFRSF11A TNFSF11 TOPORS TP53 TP53RK TPP1 TRAF3IP1 TRAF7 TRAPPC11 TRAPPC12 TRAPPC2L TREX1 TRIM44 TRIO TRNT1 TRPM1 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSPAN12 TTC8 TTLL5 TTPA TTR TUB TUBA1A TUBA3D TUBB2B TUBB3 TUBB4A TUBB4B TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TWNK TYR UBAC2 UBE2T UBE4B UCHL1 UFC1 UFM1 UNC119 UROD UROS USH1C USH1G USH2A USP45 USP48 USP8 VAMP2 VCAN VHL VPS11 VPS13B VPS37D VPS4A VPS51 VRK1 VSX1 WAC WARS2 WASF1 WDR11 WDR19 WDR26 WDR45 WDR45B WFS1 WHRN WT1 XRCC2 XRCC4 XYLT1 XYLT2 YAP1 YARS1 YIF1B YME1L1 ZEB1 ZEB2 ZFHX4 ZFYVE26 ZIC2 ZMIZ1 ZNF408 ZNF423 ZNF469 ZNF513 ZNHIT3 HP_VISUAL_LOSS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_LOSS ABCA4 ABCD1 ADAMTS10 ADGRV1 AGBL1 AGTPBP1 AHI1 AIP AKT1 ALMS1 ALPK1 ANKRD55 APOE ARL3 ARSG ATP1A3 ATXN7 BAP1 BCOR BRAF BTD C19orf12 C1QTNF5 CA2 CARS2 CCND1 CD247 CDH23 CDHR1 CEP120 CEP164 CEP290 CEP41 CEP78 CFAP418 CFH CFHR1 CFHR3 CFI CHM CIB2 CLCN7 CLN3 CLN5 CLN6 CLN8 CLRN1 COL17A1 COL18A1 COL2A1 COL4A1 COL7A1 COL8A2 COQ2 COX6B1 COX7B CSPP1 CTNNB1 CTSD CYP1B1 CYP4V2 CYSLTR2 DCN DNAJC30 DNM1L EFEMP1 ELMO2 EPM2A EPRS1 ESPN EXOSC3 EXOSC8 EXOSC9 FA2H FBN1 FGFR2 FLVCR1 FOXC1 GALC GATA2 GJB2 GJB6 GNA11 GNAQ GNAS GUCA1A GUCY2D HADHA HARS1 HCCS HLA-A HLA-B HLA-DRB1 HMCN1 HSD17B10 HSD17B4 IFT140 IL2RA IL2RB INPP5E INVS IQCB1 KARS1 KCTD7 KIAA0586 KIAA1549 KIF11 KIF1A LAMC3 LCA5 LRP2 LSS LTBP2 MEN1 MERTK MFN2 MFSD8 MKS1 MMP1 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTTP MYO7A MYOC NBAS NDUFB11 NDUFS2 NEU1 NF1 NF2 NHLRC1 NHS NOD2 NOTCH3 NPHP1 NPHP3 NPHP4 OAT OPA1 P4HA2 PAK2 PAX6 PCDH15 PCYT1A PDGFB PDZD7 PEX13 PEX7 PGK1 PHYH PIK3CA PLA2G6 PMPCB PNPLA6 POLA1 POLG POLG2 PPT1 PRDM5 PRPH2 PRPS1 PSAP PTPN2 PTPN22 RAX2 RDH11 RDH5 RHO RLBP1 RP1L1 RS1 SDCCAG8 SEMA4A SF3B1 SH3BP2 SLC19A2 SLC25A46 SLC4A11 SLC52A2 SMARCB1 SMARCE1 SMCHD1 SMO SNX10 SON SOST SOX2 SPATA7 SPTBN1 SRD5A3 ST3GAL5 STAT4 SUFU TAT TBC1D24 TCF4 TCOF1 TEK TERT TFG TGFBI TIMM8A TIMP3 TNFRSF11A TPP1 TRAF3IP1 TRAF7 TREX1 TRIM44 TUBB3 UCHL1 USH1C USH1G USH2A VCAN VHL VRK1 WAC WDR19 WHRN XYLT2 ZEB1 ZNF408 ZNF469 ZNHIT3 HP_VITAMIN_B12_DEFICIENCY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITAMIN_B12_DEFICIENCY ABCD1 AMN CBLIF CUBN GRM7 GUCY2C HLA-DQA1 HLA-DQB1 LMBRD1 SLC19A1 HP_VITILIGO https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITILIGO ACP5 AIRE CAT CTNNBL1 CXCR4 DCLRE1C DSTYK EMC1 FAS FOXD3 KANSL1 KITLG LRBA MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NBN NFKB2 NLRP1 PLCG2 POGZ PTPN22 SLX4 TRAC HP_VITREORETINOPATHY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREORETINOPATHY BAP1 CAPN5 COL11A1 COL11A2 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 CRB1 CTNNB1 ERBB3 FZD4 KCNJ13 LRP5 NDP NR2E3 P3H2 PAK2 TSPAN12 VCAN ZNF408 HP_VITREOUS_FLOATERS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_FLOATERS ARL3 ARSK CTNNB1 FZD4 HLA-A LRP5 NDP P3H2 PAK2 TSPAN12 TTR ZNF408 HP_VITREOUS_HEMORRHAGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_HEMORRHAGE BAP1 BEST1 CAPN5 CTNNB1 CYSLTR2 FZD4 GNA11 GNAQ LRP5 NDP PROC RB1 RS1 SF3B1 SMC5 TSPAN12 ZNF408 HP_VITRITIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITRITIS COX7B HCCS HLA-A NDUFB11 RB1 HP_VOCAL_CORD_PARALYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARALYSIS ADCY6 ATXN3 CAMK2B DCTN1 DKK1 DLST DNMT3A DST ELN EMD EPAS1 FH FHL1 GDAP1 GIPC1 HAAO JAG1 KIF1B LMNA LONP1 LRP12 MATR3 MAX MDH2 MFN2 MLXIPL MYCN MYH14 NF1 NOTCH2NLC PMP22 POLA1 PRX RET RILPL1 SBF2 SDHA SDHAF2 SDHB SDHC SDHD SETBP1 SH3TC2 SLC25A11 SLC52A3 SLC5A7 SYNE1 SYNE2 TMEM127 TMEM43 TNNC2 TRAPPC12 TRIM2 TRPV4 VHL ZNF699 HP_VOCAL_CORD_PARESIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARESIS DST GDAP1 GIPC1 HAAO JAG1 LONP1 LRP12 MATR3 MFN2 NOTCH2NLC PRX RILPL1 SH3TC2 SLC5A7 TRPV4 HP_VOLVULUS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOLVULUS AP1S1 ATRX BRD4 CHRM3 DIS3L2 EXT2 FOXF1 HDAC8 MYH11 NIPBL PACS1 RAD21 SMC1A SMC3 TEK VARS1 VPS51 HP_VOMITING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOMITING AASS ABCC6 ABCC8 ACAD8 ACADM ACADVL ACAT1 ACSF3 ACSL5 ACTG2 ACY1 ADNP AGR2 AIMP1 AIP ALAD ALDH18A1 ALDOB ALG11 ALG3 ALG8 ALG9 ALPL ALX4 AMN ANAPC1 ANO1 APC AQP2 ARG1 ASL ASPA ASS1 ASXL1 ASXL3 ATP1A2 ATP1A3 ATP6V0A4 ATP7B ATRX AVP AVPR2 BCKDHA BCKDHB BOLA3 BRAF BSND BTD CA5A CACNA1A CARD8 CAV1 CCM2 CD46 CD55 CDC42BPB CDH23 CDK13 CDK8 CDKN1A CDKN1B CDKN2B CDKN2C CDON CFH CFI CLCNKA CLCNKB CLMP COA8 COL1A1 COL25A1 COL4A5 COL4A6 COL5A1 COL5A2 COQ2 CPOX CPS1 CPT2 CTNNB1 CTNS CTRC CUBN CYC1 CYP11A1 CYP11B2 CYP24A1 D2HGDH DBH DBT DGAT1 DGUOK DHCR7 DISP1 DLD DLL1 DOLK DYRK1A EDNRA EGFR ELN ELP1 ENPP1 EPCAM ERBB3 ESR1 ETFA ETFB ETFDH F12 FAH FARSB FBLN5 FBP1 FGF13 FGF8 FGFR1 FLNA FOCAD FOXH1 FOXP3 FOXRED1 GALC GALE GALT GAMT GAN GAS1 GFAP GFM2 GHSR GK GLA GLI2 GPD1 GRB10 HADH HELLPAR HIBCH HIKESHI HLA-DQA1 HLA-DQB1 HLCS HMBS HMGCL HMGCS2 HNF4A HNRNPK HPRT1 HS3ST6 HSD3B2 IRAK1 ITGB4 IVD KARS1 KCNJ1 KCNJ11 KIF21A KIT KMT2E KRIT1 KYNU LAMA3 LAMB3 LAMC2 LBX1 LIG3 LIPA LPL LRPPRC MARS1 MC2R MCCC1 MCCC2 MED12 MEFV MEN1 MET MLYCD MMAA MMAB MMUT MPI MPV17 MRAP MRPS7 MSX2 MT-ATP6 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFD1 MTRR MTTP MVK NAA10 NAGS NARS2 NAXD NBAS NDUFA1 NDUFA11 NDUFA2 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROG3 NEXMIF NFIX NLRC4 NNT NODAL NOTCH2NLC NR3C2 NSD1 NUBPL NUP214 OPLAH OTC OXCT1 PCCA PCCB PDCD10 PERCC1 PGM1 PHGDH PHKA2 PHKB PHKG2 PHOX2A PIGY PIK3CA PKHD1 PLCH1 PLEC PMM2 PNPT1 POLG PPM1D PPOX PSAP PTCH1 PYCR2 RANBP2 RARS1 RECQL4 RELA RET RRM2B RYR1 SAA1 SAR1B SAT1 SCN2A SCNN1A SCNN1B SCNN1G SERPING1 SHANK3 SHH SI SIX3 SLC12A1 SLC12A3 SLC19A3 SLC1A3 SLC22A12 SLC22A5 SLC25A13 SLC25A15 SLC2A9 SLC37A4 SLC5A1 SLC5A6 SLC6A8 SLC7A7 SMC1A SMPD1 SPINK1 SPP1 SPTBN1 SSR4 ST3GAL5 STAG2 STAR STAT4 STIL STK11 STX3 SUCLG1 SUGCT SUOX SYK SYT1 TCN2 TDGF1 TGIF1 TIMM22 TIMMDC1 TMEM126B TNF TNFRSF1A TOM1 TP53 TREH TRMU TTR TUBA1A TUBB2B TUBB3 TWNK TXNRD2 TYMP UFC1 UNC45A UQCC2 UQCRC2 UQCRH YARS1 ZEB2 ZFTA ZIC2 HP_WADDLING_GAIT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WADDLING_GAIT ACAN ACBD5 ACTA1 AGRN ALG14 ALG2 ALPL ANO5 AP4B1 AP4E1 AP4M1 AP4S1 ASAH1 BGN BICD2 BIN1 CANT1 CCN6 CFL2 CHAT CHKB CHST3 COL10A1 COL12A1 COL13A1 COL2A1 COL6A1 COL6A2 COL6A3 COL9A1 COL9A2 COL9A3 COLQ COMP DAG1 DEAF1 DMD DNAJB6 DOK7 DPAGT1 DPM3 DSTYK DYM DYNC1H1 EMD FDX2 FGD4 FHL1 FKBP14 FKRP FLNC FN1 GALNS GFPT1 GMPPB HACD1 HACE1 HNRNPA1 HNRNPA2B1 HSPG2 IDH1 IFIH1 KBTBD13 KLHL41 LAMA2 LAMB2 LMNA LMOD3 LRP5 LTBP4 MAP3K20 MATN3 MBTPS1 MMP13 MORC2 MYH2 MYH7 MYO9A MYPN NEB NEFH NEFL NOG PLEKHG5 POC1A POGZ POMT1 PREPL PTH1R RYR1 SCN4A SELENON SGCA SGCB SGCG SLC18A3 SLC25A1 SLC26A2 SLC34A1 SLC34A3 SLC39A13 SLC5A7 SLC6A17 SMARCAL1 SMN1 SNAP25 SPEG SPG7 SYNE1 SYNE2 SYT2 TGFB1 TMEM43 TNNC2 TNNT1 TPM2 TPM3 TRAPPC10 TRAPPC11 TRIM32 TRPV4 TTN UFSP2 VAMP1 VAPB VCP YY1 HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION AARS1 AASS ABCA12 ABCC6 ABCD1 ABHD16A ADA2 ADAR ADGRG1 ADSL AFF3 AFG3L2 AGR2 AGTPBP1 AIFM1 AIMP1 AIPL1 AKT1 AKT3 ALDH18A1 ALDH3A2 ALG3 ALS2 AMACR AMFR AMPD2 ANGPTL6 ANOS1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APOE ARFGEF2 ARG1 ARHGAP31 ARL6IP1 ARNT2 ARSA ARSI ARX ASAH1 ATL1 ATP13A2 ATP1A2 ATP1A3 ATP5F1A ATP5F1D ATP5F1E ATP5MC3 ATP5MK ATP6AP2 ATP6V1A ATPAF1 ATPAF2 ATRX AUH B3GALNT2 B3GALT6 B4GALNT1 BAP1 BCAP31 BCAS3 BCOR BMPR1A BSCL2 BTD BUB1B C19orf12 C4A C9orf72 CA2 CACNA1A CACNA1D CACNA1S CAPN1 CARS1 CARS2 CASZ1 CBS CCDC141 CCDC88C CCR1 CCT5 CEP290 CFH CFHR1 CFHR3 CHCHD10 CHD7 CKAP2L CLTC COA8 COASY COL3A1 COL4A1 COL4A2 COQ2 CPT1A CPT1C CRB1 CRPPA CRX CTC1 CTLA4 CYP26C1 CYP27A1 CYP2U1 CYP7B1 DCC DDHD1 DDHD2 DLL4 DNASE1L3 DNM1L DOCK6 DOCK8 DOLK DPYD DSTYK DUSP6 DYM EARS2 EDNRB EIF2S3 ELOVL1 ENG ENPP1 ENTPD1 EOGT EPCAM ERAP1 ERCC2 ERCC3 ERLIN2 EXOSC8 FA2H FAN1 FAR1 FARS2 FAS FBLN1 FEZF1 FGF17 FGF8 FGFR1 FKRP FKTN FLRT1 FLRT3 FUCA1 FUS GABRA3 GABRD GAD1 GALC GAMT GAN GBA1 GBA2 GBE1 GDF3 GDF6 GFAP GIPC1 GJA1 GJB1 GJC2 GM2A GMPPB GNAQ GNB1 GON7 GOT2 GPT2 GSS GTF2E2 GTF2H5 GUCY1A1 GUCY2D GUF1 HACE1 HESX1 HINT1 HLA-B HLA-DPA1 HLA-DPB1 HLA-DQB1 HMGCL HPDL HPRT1 HRAS HS6ST1 HSD17B10 HSPD1 HSPG2 HTRA1 IBA57 IDUA IFIH1 IFNGR1 IFT140 IKBKG IL10 IL12A IL12A-AS1 IL17RD IL23R IMPDH1 INTS8 IQCB1 IRAK1 KCNAB2 KCNJ13 KCNJ18 KCNJ6 KCNQ2 KCNT1 KDM5C KIDINS220 KIF1A KIF5A KLC2 KLRC4 KPNA3 KRAS KY L1CAM L2HGDH LAGE3 LAMB1 LARGE1 LCA5 LIMS2 LIPT1 LIPT2 LMNB1 LMX1B LRAT LRP12 LRP4 LSM11 LUZP1 LYRM7 LYST MAG MAN2B1 MARS1 MC2R MECP2 MED13L MEFV MEOX1 MFSD2A MICOS13 MLH1 MLH3 MMP23B MMUT MOCS1 MPLKIP MRAP MRM2 MSH2 MSH6 MT-ATP6 MT-ATP8 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TC MT-TF MT-TH MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTHFR MTOR MTPAP MTRFR NADK2 NAGA NAGS NAXE NDNF NDUFA8 NDUFS3 NEK1 NEXMIF NF1 NF2 NFU1 NHLRC2 NIPA1 NMNAT1 NNT NOTCH1 NOTCH2NLC NOTCH3 NPPA NT5C2 NUP107 NUP133 NUP54 NUP62 OPA1 OPA3 OSGEP OTX2 PAFAH1B1 PAH PAX3 PCYT1A PDGFB PDGFRB PDHX PDPN PEX16 PEX3 PEX7 PGAP1 PHACTR1 PHYH PI4KA PIK3CA PLA2G6 PLP1 PMS1 PMS2 PNKP PNP PNPLA6 POLG POLR3GL POLR3K POMGNT1 POMT1 POMT2 PPOX PPP1R15B PRDM16 PRDM8 PRF1 PRKCZ PRNP PROK2 PROKR2 PRORP PRPS1 PRRT2 PRTN3 PRUNE1 PSAP PSAT1 PSEN1 PTEN PTPN22 RAB3GAP2 RANBP2 RASA1 RBPJ RD3 RDH12 REEP1 REEP2 RERE RHOBTB2 RILPL1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF170 RNF216 RNF220 RNU7-1 RPE65 RPGRIP1 RPS20 RRM2B RTN2 SAMD9 SAMHD1 SARDH SAT1 SCN1A SCN5A SDHA SDHAF1 SDHB SDHD SELENOI SEMA3A SEMA4A SETX SKI SLC12A6 SLC16A2 SLC18A2 SLC19A3 SLC1A2 SLC1A3 SLC25A10 SLC25A15 SLC2A1 SLC30A10 SLC33A1 SLC35A2 SMARCAL1 SMARCB1 SMARCE1 SMC1A SMO SNORD118 SOD1 SOX10 SOX2 SOX3 SOX4 SP110 SPART SPAST SPATA5L1 SPATA7 SPEN SPG11 SPG21 SPG7 SPOP SPP1 SPRY4 SQSTM1 SRPX2 STAMBP STAR STAT4 STXBP1 SUFU SUOX TACO1 TACR3 TARDBP TARS1 TBC1D24 TBCD TBCE TBK1 TBX1 TECPR2 TERT TFG TGFBR2 TGFBR3 THSD1 TLR3 TLR4 TMEM222 TNFRSF11A TNR TOE1 TP53 TP53RK TPP2 TPRKB TRAF7 TRAPPC2L TRAPPC4 TREX1 TRMT10A TSC1 TSC2 TTC19 TTPA TTR TUBB2B TUBB4B TULP1 TXNRD2 UBAC2 UBAP1 UBE4B UCHL1 UGP2 USP45 USP8 VAMP1 VCP VPS37A WASHC5 WDR11 WDR4 WDR45 WDR45B WDR48 WDR62 WDR73 YRDC ZFR ZFYVE26 ZFYVE27 HP_WEAKNESS_OF_FACIAL_MUSCULATURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_FACIAL_MUSCULATURE ABCA1 ACADS ACTA1 ACTN2 ADA2 ADCY6 ADGRG1 ADNP ADSS1 AGRN AK9 AKT1 ALG14 ALG2 AMER1 ANKH ANO5 ANTXR1 ANXA11 ASAH1 ATP1A2 BAG3 BAP1 BICRA BIN1 BMS1 BTNL2 CACNA1A CADM3 CAPN3 CFL2 CHAT CHCHD10 CHD7 CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCF1 CLCN7 CNBP CNTNAP1 COL12A1 COL13A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COLQ COX6A2 CRLF1 CRPPA CRYAB DBH DCTN1 DES DLL4 DMPK DNAJB6 DNM1L DNM2 DNMT3B DOK7 DPAGT1 EBF3 EYA1 FKRP FKTN FLNC FRG1 GAN GDAP1 GFPT1 GIPC1 GJA1 GJC2 GLE1 GMPPB GNE GSN HACD1 HK1 HLA-DRB1 HOXB1 IRF2BPL ITGA7 ITGB4 JAG2 KBTBD13 KIF1B KLHL40 KLHL41 KMT2D KY LAMA2 LAMB2 LARGE1 LMOD3 LRIF1 LRP12 LRP4 LRP5 MAP3K20 MB MEGF10 MGME1 MPZ MSTO1 MT-TE MT-TN MT-TS1 MTM1 MTMR14 MTMR2 MTRFR MUSK MYH7 MYL1 MYL2 MYMK MYMX MYO9A MYPN NARS2 NEB NEFL NF2 NFU1 NOD2 NOTCH2NLC NUTM2B-AS1 OPA1 OSTM1 PABPN1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIK3CA PLEC PLXND1 POLG POLG2 POMT1 POMT2 PRRT2 PTDSS1 PTRH2 PUF60 RAPSN REV3L RILPL1 RNASEH1 RRM2B RYR1 RYR3 SALL4 SBF2 SCN1A SCN4A SCO2 SELENON SEMA3E SGCD SH3TC2 SHMT2 SIX1 SIX5 SLC12A6 SLC18A3 SLC19A3 SLC25A1 SLC25A21 SLC25A4 SLC25A42 SLC39A14 SLC52A2 SLC52A3 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMO SNAP25 SNX10 SOST SPEG SPTBN4 SQSTM1 SRPX2 STAC3 STAG2 SUCLA2 SUFU SUPT16H SURF1 SYNE1 SYT2 TCIRG1 TERT TFAP2A TGFB1 TK2 TNFSF11 TNNC2 TNNT1 TOR1A TPM2 TPM3 TRAF7 TREX1 TRIM32 TRPV4 TTN TUBB3 TUBB6 TWNK UBA1 UBA2 UBE2T VAMP1 VCP XRCC2 YARS1 YME1L1 ZC4H2 ZFHX4 HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES AGRN AK9 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 GNE HINT1 LDB3 LRP4 MUSK MYH7 NEB RAPSN SCN4A SQSTM1 TIA1 TTN HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION ACOX1 ACTA1 AGRN AGTPBP1 AIFM1 ALAD ASAH1 BICD2 BIN1 CACNA1S CCDC174 CFL2 CHAT CHRNA1 CHRNE CNTN1 COA8 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ CPOX CRYAB DES DMD DNM2 DOK7 DYM DYSF EMD ERBB4 ERGIC1 FHL1 FLNC GAA GABRA3 GFPT1 GIPC1 GLE1 HACD1 HMBS HNRNPA1 HNRNPA2B1 ITGA7 KBTBD13 KCNE3 KCNJ18 KLHL41 LAMA2 LMNA LMOD3 LRP12 MAP3K20 MATR3 MB MFN2 MGME1 MORC2 MPZ MT-TL1 MT-TL2 MT-TN MT-TS1 MTMR14 MYF6 MYH7 MYL1 MYL2 MYO9A MYOT MYPN NEB NOTCH2NLC ORAI1 PAX7 PLEKHG5 POLG POMK PPOX RILPL1 RNASEH1 RRM2B RYR1 SCN4A SCYL2 SELENON SLC18A3 SLC25A1 SLC25A4 SLC5A7 SMPX SNAP25 SPG11 SUCLA2 SURF1 SYNE1 SYNE2 SYT2 TARDBP TK2 TMEM43 TNNT1 TNPO3 TPI1 TPM2 TPM3 TRIP4 TTN UBA1 VAMP1 VCP YARS2 HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES AGRN AK9 CADM3 CAV3 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 DYSF FBXO38 HINT1 KLHL9 LDB3 LRP4 MB MUSK NEB RAPSN SCN4A SIGMAR1 STIM1 VCP HP_WEAK_CRY https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_CRY AGRN ASAH1 ASPA ATRX CHAT CHRNA1 CHRND CHRNE COL13A1 COLQ COQ9 CRYAB EXOSC9 FKTN FTO GFPT1 GGPS1 HACD1 IGHMBP2 KDM6A KMT2D LAMA2 LAMA3 LAMB2 LYRM4 MAGEL2 MYO9A NDUFS8 NIPBL OPA1 PEX19 PPP1R21 RAPSN RYR1 SCN4A SIM1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPN SYT2 TPM3 TRIP4 TTC26 UBA1 VAMP1 VARS1 VPS13B HP_WEAK_EXTRAOCULAR_MUSCLES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_EXTRAOCULAR_MUSCLES ACTN2 AKT1 BAP1 NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 HP_WEAK_VOICE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_VOICE ADH1C AOPEP ATP6AP2 ATXN2 ATXN8OS COQ6 DCTN1 DNAJC6 FHL1 FTL GARS1 GBA1 GLUD2 HSPG2 LZTR1 MAPT MATR3 MT-TT NF2 NR4A2 PODXL POLG SLC52A3 SMARCB1 SNCAIP SYNJ1 SYT2 TBP TK2 TONSL TRIM37 HP_WEBBED_NECK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEBBED_NECK ACTB ACTG1 ADA2 AEBP1 ALDH1A2 AMER1 ANKRD11 B3GAT3 B3GLCT BCOR BLTP1 BMPER BRAF C2CD3 CBL CDC42 CHD7 CHN1 CHRNG CHST3 CPLX1 CTBP1 DVL3 EFNB1 FANCL FBXW11 FGFRL1 FLI1 FOXC2 GATA1 GATA2 GDF3 GDF6 GLE1 GPC3 GPC4 HEATR3 HRAS IGF1R KAT6A KMT2A KRAS LAMA5 LETM1 LMNA LMX1B LZTR1 MAFB MAP2K1 MAP2K2 MAP3K7 MAPK1 MEGF8 MEOX1 MKS1 MRAS MYH3 MYO18B NAA10 NALCN NF1 NKX2-1 NRAS NSD2 PIEZO1 PIGL PIK3CA PPP1CB PTPN11 RAF1 RASA2 RB1 RIT1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RYR1 SALL4 SHOC2 SLC35A1 SLC39A13 SMS SNRPB SOS1 SOS2 SPRED2 SRY STXBP1 TAPT1 TASP1 TBX2 TMEM260 TMEM94 TNNI2 TNNT3 TPM2 TSR2 WBP11 XYLT2 ZMPSTE24 HP_WEIGHT_LOSS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEIGHT_LOSS ABCC8 ABCD1 ACADM ACAT1 ACTA1 AK2 AKT1 ALS2 AMN ANKRD55 ANO1 ASXL1 ATM ATP7A ATP7B ATR ATRIP ATRX AVP BAP1 BCL10 BCL2 BCL6 BCOR BIRC3 BMP6 BMPR1A BRCA1 BRCA2 BRIP1 BTK BTNL2 C4A CACNA1S CALR CBL CCND1 CCR1 CD244 CD247 CDC73 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CENPE CENPJ CEP152 CFTR CHEK2 CIITA CNTNAP1 COL4A5 COL4A6 CRLF1 CTLA4 CTNNB1 CTNS CTRC CUBN CUL4B CYP24A1 DAXX DCTN1 DIS3L2 DLST DNA2 DNAJC13 DNMT3A ECE1 EDN3 EDNRB EHHADH EIF4G1 ELF4 EPAS1 EPCAM ERAP1 ERBB2 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 EWSR1 F5 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FH FIP1L1 FLI1 FOXP1 FOXP3 FUS GABRA3 GALC GATA2 GATA4 GATM GBA1 GCK GDNF GFAP GIGYF2 GIPC1 GJA1 GJB3 GJB4 GNPTAB GPC3 GPR35 H19 HACD1 HAVCR2 HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMGCL HSPG2 HTT IFIH1 IFNGR1 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IL6 INS IRF2BP2 IRF4 ITGA7 JAK2 JPH3 KCNJ11 KCNJ18 KDSR KIF1B KIT KLF1 KLRC4 KRAS KRT1 KRT10 LIG3 LIPA LMNA LPIN2 LRP12 LRRK2 MAD2L2 MAFB MALT1 MAP3K20 MAX MC2R MDH2 MECP2 MEFV MEN1 MLH1 MLH3 MLX MPL MRAP MSH2 MSH6 MST1 MYL2 NAB2 NABP1 NALCN NBN NDP NDUFAF6 NF1 NFKBIL1 NNT NOD2 NOS1 NOTCH2NLC NPM1 NRTN NUMA1 NUP85 P4HA2 PALB2 PALLD PANK2 PCNT PDX1 PERCC1 PIK3CA PIK3R1 PKHD1 PLK4 PML PMS1 PMS2 POLG POU6F2 PRKAR1A PRNP PRTN3 PSAP PTEN PTPN2 PTPN22 RABL3 RAD51 RAD51C RARA RB1 RBBP8 REST RET RFWD3 RHBDF2 RILPL1 RNF168 RNU7-1 RPS20 RRM2B RUNX1 SCNN1A SCNN1B SCNN1G SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SELENON SEMA3C SEMA3D SEMA4A SEMA4D SIGMAR1 SLC11A1 SLC22A4 SLC25A11 SLC2A3 SLC34A1 SLC34A2 SLC39A4 SLC5A1 SLC6A8 SLC9A6 SLX4 SMAD4 SMO SNCA SPG11 SPINK1 SPTLC1 SREBF1 SRSF2 STAR STAT1 STAT3 STAT4 STAT5B STAT6 STUB1 SUCLA2 SYK TBL1XR1 TCF4 TERT TET2 TGFB1 TGFBR2 THPO TLR4 TMEM127 TP53 TPM2 TPM3 TRAIP TRIM28 TRIM37 TRIP13 TRPV4 TSHR TTR TWNK TXNRD2 TYMP UBAC2 UBE2T UNC45A UNC80 VHL VPS13A VPS35 WT1 XRCC2 ZBTB16 ZMPSTE24 ZNRF3 HP_WHEEZING https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHEEZING AGR2 ATP8B1 BTK CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CFAP74 CFTR CRLF1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FCGR3A FOXJ1 GAS2L2 GAS8 HLA-DQA1 HLA-DQB1 HYDIN LRRC56 MCIDAS NEK10 NKX2-1 NME5 NME8 NOS1 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PRIM1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SCNN1A SCNN1B SCNN1G SERPINA1 SPAG1 SPEF2 STK36 TTC12 ZMYND10 HP_WHITE_EYEBROW https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_EYEBROW EDN3 EDNRB KIT MC1R MITF MYO5A OCA2 PAX3 SNAI2 SOX10 TYRP1 HP_WHITE_FORELOCK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_FORELOCK EDN3 EDNRB KIT KITLG LMNA MITF PAX3 PEPD SNAI2 SOX10 TERT TFAP2A TYR WRN HP_WHITE_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_HAIR CTC1 DKC1 GNPTAB KITLG MC1R MYO5A NHP2 NOP10 NPM1 OCA2 PADI3 PARN PAX3 RTEL1 SLC45A2 TERC TERT TGM3 TINF2 TYMS TYR USB1 WRAP53 HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES ACE AGT AGTR1 ALPL CYP27B1 CYP2R1 LMNA MED12 MSX2 PEX1 POLR3A RBM10 REN SETBP1 SLC34A3 VDR ZMPSTE24 HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS ABCC9 ALX3 ANKRD11 ATRX CHSY1 DNMT3A FREM1 GATAD2B RNF2 STAG1 HP_WIDELY_SPACED_PRIMARY_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_PRIMARY_TEETH ERCC1 ERCC4 ERCC6 ERCC8 RNF113A WNT10A HP_WIDELY_SPACED_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_TEETH ACP4 ACVR1 ADNP AFF3 AIMP2 AIP ALX4 ARSK ATP6V1B2 AXIN2 B3GLCT BAP1 BCAS3 BRD4 CAMK2B CCDC47 CDC42 CDC42BPB CDH3 CDK19 CDK5RAP2 CERT1 CHD3 CHST3 CLP1 DLX3 DPH1 DPH2 DYRK1A EDA EDARADD EIF2S3 ERCC1 ERCC4 ERCC6 ERCC8 FGF10 FGF3 FGFR1 GALNS GJA5 GJA8 GLB1 GPR101 GUSB H4C5 HDAC4 HDAC8 HK1 IDS IFT122 IFT140 IFT43 IFT52 IRF6 KANSL1 KATNB1 KDM1A KDM6A KIAA0753 KMT2D LARP7 LMBRD2 LRP6 LTBP3 MAN2B1 MAPK1 MBD5 MECP2 MED12 MED13L MED27 MSX1 NAA20 NARS1 NDST1 NECTIN4 NIPBL NONO OCA2 PACS2 PAX9 PCGF2 PIGA PIGL PIGS PPP1CB PRKD1 PRR12 PTPRF RAD21 RDH11 RHOBTB2 RLIM RNF113A RPS6KA3 SATB1 SETD1A SHANK3 SMARCA2 SMC1A SMC3 SNRPN SSR4 SUMO1 TANC2 TBC1D24 TBCD TBL1XR1 TBX4 TCF4 TGFA TP63 TWIST2 UBE3A WDR26 WDR35 WNT10A WNT10B ZEB2 ZNF526 ZSWIM6 HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE NMNAT1 SEPSECS TSEN15 TSEN2 TSEN34 TSEN54 HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE ALG12 CHD3 IDH1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW NARS1 TTC26 HP_WIDENED_SUBARACHNOID_SPACE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_SUBARACHNOID_SPACE AHCY AIFM1 ALDH7A1 ALG11 ALG12 ALG2 ALG9 ATP11A CHD3 COX16 CUX1 DNM1 DTYMK GCDH GRIN1 IDH1 KIFBP MPDU1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MTRR NARS1 NMNAT1 PIGW PLPBP SEPSECS SLC33A1 SNRPN TSEN15 TSEN2 TSEN34 TSEN54 TTC26 WAC WARS2 HP_WIDE_ANTERIOR_FONTANEL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_ANTERIOR_FONTANEL ADAMTS2 ALG9 ANTXR1 ARX ATP6V0A2 B3GLCT CBFB CCDC22 CDC45 CDH11 CHUK COG4 COL11A1 COL11A2 COL1A1 COL1A2 COX5A CREBBP CRTAP DCHS1 DDR2 DDX3X DICER1 DLK1 DVL1 EBP EFEMP2 EP300 ETFA ETFB ETFDH FAT4 FBLN5 FGFR2 FGFR3 FLNA GLI3 GLIS3 HRAS IFT140 INTU KIF7 KLF1 LIG4 LRP2 LTBP1 MASP1 MED12 MEG3 MID1 MPDU1 MTOR NAA10 NDUFAF3 NEPRO NSMCE3 NSUN2 P3H1 PCGF2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIEZO2 PIGQ POR PPP2R5D RECQL4 RNU12 ROR2 RTL1 SEC23A SETBP1 SH3PXD2B SIX2 SKI SLC25A24 SMG9 SOX9 TALDO1 TSHB TWIST1 VPS35L WNT5A WT1 ZMPSTE24 HP_WIDE_CRANIAL_SUTURES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_CRANIAL_SUTURES ACE AGO2 AGT AGTR1 ALDH18A1 ALPL BANF1 CRTAP CYP27B1 CYP2R1 DCHS1 FAT4 FIG4 GJA1 LMNA MED12 MMP2 MSX2 PEX1 POLR3A RBM10 REN SEC24D SETBP1 SLC34A3 TRPV6 VAC14 VDR ZMPSTE24 HP_WIDE_MOUTH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_MOUTH ABCC9 ACTB ACTG1 ACTL6B ADAMTSL2 ADAT3 ADNP ADSL AFF3 AGA ALG9 ANKRD11 AP1S2 AP2M1 AP4B1 AP4E1 AP4M1 AP4S1 ARID1A ARID1B ARID2 ASXL3 ATIC ATP10A ATP6V1B2 ATPAF2 ATRX AUTS2 B3GLCT BAZ1B BCL7B BRPF1 BUD23 CAMK2A CCDC47 CD96 CDC42 CDC42BPB CDK19 CENPF CHD2 CLIP2 CUL4B DACT1 DDB1 DDX11 DHCR7 DNAJC30 DPF2 DPYD DPYSL5 DVL1 EIF4H ELN ERLIN2 EXOSC5 FAM20C FKBP6 FLCN FOXP2 GALNS GATAD2B GLB1 GNB2 GNPTAB GNS GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C11 H4C3 H4C5 HDAC6 HECTD4 HECW2 HNRNPH2 HS2ST1 HUWE1 IDUA IFT140 INSR IRX5 KAT5 KAT6A KATNB1 KCNH1 KCNJ8 KCNK4 KCNMA1 KCNN3 KDM3B KDM6B KIF15 KIF7 KLHL15 KMT2B LARP7 LIG4 LIMK1 MAP2K1 MAP3K7 MAPK1 MBD5 MED12 MED13 MED13L METTL27 MGAT2 MIPEP MKS1 MLXIPL MTOR MYT1L NALCN NCF1 NEXMIF NMNAT1 NONO NR2F1 NRXN1 NSUN2 NXN OCA2 PACS1 PACS2 PGAP1 PGAP2 PIGB PIGL PIGN PIGU PIK3CA PMM2 POLA1 POLR1B POLR1C POLR1D PPM1D PRPS1 PSPH PTDSS1 QRICH1 RAF1 RAI1 RALGAPA1 RFC2 RNF113A RNF125 RNF2 RNU12 ROR2 RPS6KA3 SALL1 SCN1A SEC23A SET SETBP1 SETD1A SF3B2 SF3B4 SH3PXD2B SKIC3 SLC12A2 SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNIP1 SNRPN SOS1 SOX11 SOX4 SPEN SPRED2 SRCAP SSR4 STAG1 STRADA STX1A SYNGAP1 TALDO1 TASP1 TBL2 TCF4 TCOF1 THUMPD1 TMCO1 TMEM147 TMEM270 TMEM67 TMEM70 TRIO TRIP12 TRPM3 TRRAP TWIST2 UBE2A UBE3A UBE3B VPS37D WAC WDR4 WDR73 WLS ZMIZ1 ZMYND11 ZNF148 ZNF526 ZNF699 ZSWIM6 HP_WIDE_NASAL_BRIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_BRIDGE ABCA4 ABCC9 ACOX1 ACTB ACTG1 ACY1 ADA2 ADAMTS3 ADAMTSL1 ADNP AGA AGBL5 AGO1 AGO2 AHI1 AHR ALG2 ALG3 ALX1 ALX3 ALX4 AMER1 ANKH AP2M1 AP3B1 AP4B1 AP4E1 AP4S1 APC2 ARHGEF18 ARID1B ARL2BP ARL3 ARL6 ARSK ARVCF ARX ASXL1 ASXL3 ATAD3A ATP6V0A2 ATP6V1A ATP6V1B2 ATRX AUTS2 B4GALT1 B4GALT7 BAZ1B BBS1 BBS2 BCAS3 BCL7B BEST1 BMP2 BPNT2 BPTF BRAF BRF1 BRPF1 BUD23 CA4 CAMSAP1 CASK CASZ1 CC2D2A CCBE1 CCDC22 CCNK CCNQ CD96 CDC42 CDH11 CDHR1 CDK10 CDK13 CENPF CERKL CFAP418 CHD2 CHD3 CHD8 CHN1 CILK1 CKAP2L CLIP2 CLP1 CLRN1 CNGA1 CNGB1 COG1 COG5 COL11A1 COL27A1 COLEC11 COMT COX7B CPLX1 CRB1 CREBBP CRX CSNK2A1 CTBP1 CTNND2 CTSD DCHS1 DDX3X DEAF1 DHCR7 DHDDS DHX38 DIS3L2 DLK1 DNAJC30 DPH5 DPYSL5 DVL1 DVL3 EDEM3 EDN3 EDNRA EDNRB EED EFNB1 EIF4H ELN EP300 ERCC1 ERCC2 ERCC5 ERCC6 ESCO2 EXOC2 EXT1 EYS FAM161A FANCL FAT4 FBN1 FBXL3 FBXO31 FGD1 FGF3 FGFR1 FGFRL1 FKBP6 FLI1 FLII FLNA FLNB FOXC1 FOXG1 FOXL2 FRAS1 FREM1 FREM2 FRMPD4 FSCN2 FUT8 FZD2 G6PC3 GABRD GAD1 GATA1 GATA4 GATAD2B GJA1 GLI3 GLUL GNE GNPAT GP1BB GPC3 GPC4 GPC6 GPRASP2 GRIP1 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B H4C5 HBA1 HBA2 HCCS HEATR3 HECTD4 HGSNAT HIRA HIVEP2 HNRNPK HNRNPR HS2ST1 HSPG2 HYOU1 IDH3A IDH3B IDS IDUA IFT122 IFT140 IFT172 IFT52 IFT57 IFT88 IGF1R IL6ST IMPDH1 IMPG1 IMPG2 INTS1 IQSEC2 IRX5 JARID2 JMJD1C KANSL1 KAT6B KATNB1 KCNAB2 KCNH1 KCNJ2 KCNJ5 KCNJ8 KCNMA1 KCNN3 KDM1A KDM4B KDM6A KIAA0753 KIAA1549 KIF11 KIF14 KIF7 KIFBP KIT KIZ KLHL7 KMT2A KMT2D KMT5B KNSTRN KPTN KRAS KREMEN1 LARP7 LETM1 LIG4 LIMK1 LMNA LMNB1 LRAT LRPPRC LTBP1 LTBP3 LTBP4 LUZP1 MAF MAFB MAK MAN1B1 MAP3K7 MAPK1 MAPRE2 MARS2 MECP2 MED12 MED13 MED13L MEG3 MEGF8 MERTK METTL27 MGP MID1 MINPP1 MITF MKS1 MLXIPL MMP23B MYCN MYH3 MYRF MYT1L NAA10 NALCN NCF1 NDE1 NDUFB11 NECTIN1 NEK1 NEK2 NELFA NEU1 NEXMIF NFASC NOG NOTCH2 NR2E3 NRAS NRL NSD2 NSUN2 NUDT2 NUP188 NUP88 NXN OFD1 OPHN1 OTUD6B PACS2 PAH PARS2 PAX1 PAX3 PBX1 PCARE PCNT PDE4D PDE6A PDE6B PDE6G PDGFRB PDHA1 PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP2 PGAP3 PIEZO2 PIGB PIGG PIGL PIGN PIGO PIGT PIGV PIGW PIGY PIK3C2A PIK3CD PIK3R1 PITX2 PKDCC PLK4 POLR1A POLR1B POLR1C POLR1D POMGNT1 PPP1R21 PQBP1 PRCD PRDM16 PRKAR1A PRKCZ PRKDC PRKG2 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMD12 PTCH1 PTCH2 PTPN11 PUF60 PUM1 PURA PUS7 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAC3 RAD21 RAF1 RAI1 RALA RAPSN RARB RB1 RBL2 RBM10 RBP3 RDH12 REEP6 RELN RERE RFC2 RFX7 RGR RHO RHOA RIN2 RLBP1 RLIM RMRP ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPL8 RPL9 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSRC1 RTL1 RTTN RUNX2 RYR1 SAG SALL4 SC5D SCAPER SCN1A SCN4A SCNM1 SEC23A SEC24C SEMA4A SEMA5A SET SETD2 SETD5 SH3PXD2B SHANK3 SHOX SIN3A SKI SKIC2 SKIC3 SLC12A6 SLC1A4 SLC2A1 SLC35A2 SLC35C1 SLC6A1 SLC7A14 SMARCA2 SMARCA4 SMARCAL1 SMG9 SNAI2 SNAP29 SNRNP200 SNX14 SON SOST SOX10 SOX18 SOX5 SOX6 SP7 SPATA7 SPECC1L SPEN SPTBN1 SRCAP SRD5A3 STAG2 STAT3 STRA6 STRADA STT3A STX1A SUFU SUPT16H SVBP SYNGAP1 TAPT1 TASP1 TBC1D20 TBC1D24 TBCK TBL2 TBX1 TBX6 TCF4 TCOF1 TENT5A TFAP2A TMCO1 TMEM270 TMEM53 TMEM70 TMEM94 TNNI2 TNNT3 TNPO2 TOE1 TOGARAM1 TOPORS TOR1A TP63 TPM2 TPR TRAPPC9 TRIM37 TRIO TRMT1 TRPS1 TRPV6 TRRAP TSR2 TTC8 TUB TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNL4A UBE4B UFD1 UMPS UNC80 USH2A USP9X VDR VPS33A VPS35L VPS37D WAC WARS2 WASHC5 WDR19 WDR35 WLS WNT5A WNT7A XRCC4 YARS1 ZBTB20 ZEB2 ZMIZ1 ZMYM2 ZNF408 ZNF513 ZSWIM6 HP_WIDE_NASAL_RIDGE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_RIDGE ALX4 AP4M1 FOXP2 HNRNPK METTL5 MSL3 POLR3A RPL10 SUZ12 TBL1XR1 HP_WIDE_NOSE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NOSE ACTB ACTG1 ACY1 ADAMTS18 AIP ALG12 ARID1A ASPH ATP6V1B2 AVP BRCC3 BUB1 BUB1B BUB3 CAMTA1 CCNQ CDH11 CEP57 CHD8 CKAP2L CLCF1 COG7 COX7B CRLF1 DLK1 DONSON DPF2 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EPG5 ESCO2 FGFR1 FHL1 FRAS1 FREM2 FUCA1 FZD2 GDF5 GPC4 GPR101 GRIP1 HCCS HDAC4 HMGA2 IDS IDUA IFT80 IL11RA INSR KAT6B KATNB1 KCNH1 KCNMA1 KCNN3 KIF11 KMT2A LARP7 LEMD3 LMBRD2 LMX1B MAN1B1 MEG3 MGP MOGS NANS NDE1 NDUFB11 NOTCH2 OTUD6B PAFAH1B1 PAM16 PHGDH PIGG POR POU4F1 PPP1CB PPP1R15B PRRX1 PTEN QRICH1 RAI1 RELN RNF125 RNF2 RPS6KA3 RTL1 SATB2 SEC23A SETBP1 SETD1A SIN3A SKIC3 SLC37A4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMG9 STAMBP STAT3 STXBP1 TBL1XR1 TBX1 TCTN3 TMCO1 TOGARAM1 TONSL TRIM37 TRIP13 TRMT10A TWIST2 VPS33A VPS53 WBP11 WDR35 WLS WNT5A YWHAE ZNF341 HP_WIDE_PUBIC_SYMPHYSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_PUBIC_SYMPHYSIS BMP1 DYM FRAS1 FREM2 GRIP1 HNRNPR RUNX2 HP_WIDOW_S_PEAK https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDOW_S_PEAK ALX1 ALX3 ATP6V1B2 DEAF1 DHX30 EFNB1 FGD1 FLNA GDF11 HEATR3 LRP2 MID1 RERE SATB1 SLC35C1 SPECC1L SYT1 TWIST1 HP_WOOLLY_HAIR https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WOOLLY_HAIR AARS1 ATP7A BRAF CCDC47 DSC2 DSG2 DSP EFNB1 GAN HRAS JUP KANK2 KRT25 KRT71 KRT74 LIPH LPAR6 MAP2K1 MPLKIP PADI3 PERP PTPN11 SKIC2 SKIC3 TGM3 TTC5 HP_WORMIAN_BONES https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WORMIAN_BONES AFF4 AIFM1 ALDH18A1 ARID2 ATP6V0A2 ATP7A BCL11B BMP1 CCDC134 CHD4 COL1A1 COL1A2 CREB3L1 CRTAP CTSK DLK1 ELN FBLN5 FKBP10 FLNA GORAB HPGD HSPG2 IFITM5 KDELR2 KIF1A LEMD2 LMNA LRP5 MEG3 MESD MSX2 NFIX NOTCH2 NOTCH3 P3H1 P4HB PAM16 PDGFRB PLOD2 POGZ PPIB PRKG2 PYCR1 RETREG1 RTL1 RUNX2 SCN9A SEC24D SETBP1 SH3PXD2B SMO SP7 TAPT1 TENT5A THRA WNK1 ZMPSTE24 HP_WRIST_DROP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_DROP ACTA1 CADM3 LDB3 MORC2 NF2 PLOD1 REEP1 HP_WRIST_FLEXION_CONTRACTURE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_FLEXION_CONTRACTURE ADAMTSL2 ADGRG6 ANO5 ASXL1 B3GALT6 CADM3 CAPN3 COL12A1 COL25A1 COL6A1 COL6A2 COL6A3 DDR2 DHX16 DLK1 ERCC1 ERGIC1 ERLIN2 ESCO2 FBN2 FLNA HSPG2 MAP3K7 MECP2 MEG3 MMP2 MUSK MYH3 MYL11 PI4KA PRG4 RTL1 SCYL2 SPG11 TBX15 TNNT1 TUBB3 HP_WRITER_S_CRAMP https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRITER_S_CRAMP AOPEP CASR CIZ1 COL6A3 DRD2 FTL GCH1 GNA11 HINT1 KCNA1 KCNN2 KCTD17 PLP1 PRRT2 SGCE TBC1D24 TBP THAP1 TOR1A VPS16 HP_XANTHOMATOSIS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XANTHOMATOSIS ABCA1 ABCG5 ABCG8 APOA1 APOA2 APOA5 APOB APOC2 APOE CETP CYP27A1 EPHX2 FGFR1 G6PC1 GHR GPIHBP1 KRAS LDLR LDLRAP1 LIPC LMF1 LMNA LPL PCSK9 PDGFRB PPARG PPP1R17 SLC37A4 SMPD1 SPRED1 TTPA HP_XEROSTOMIA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XEROSTOMIA ANG ANXA11 ATXN2 CAV1 CCN2 CCNF CCR6 CFAP410 CHCHD10 CHMP2B CHRM3 CLDN10 DAO DCTN1 EDARADD ELOVL1 EPHA4 ERBB4 FGF10 FGFR2 FGFR3 FIG4 FUS GLE1 GLT8D1 GSN HLA-DRB1 HNRNPA1 IRF5 LBR MAGEL2 MATR3 NEFH NEK1 NOD2 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH SCN9A SIM1 SLC12A2 SOD1 SQSTM1 TAF15 TARDBP TBK1 TP63 TREM2 UBQLN2 UNC13A VAPB VCP HP_X_LINKED_DOMINANT_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_DOMINANT_INHERITANCE ACSL4 ALAS2 AMELX AMER1 ATRX BCOR CASK CCNQ CDKL5 CLCN4 COL4A5 COX7B DDX3X DIAPH2 EBP EDA EFNB1 F8 FHL1 FLNA FMR1 G6PD GDI1 GJB1 GPR101 HCCS HDAC6 HDAC8 HNRNPH2 HSD17B10 IKBKG IQSEC2 KDM6A LAMP2 MECP2 MED12 MSL3 NAA10 NDUFB11 NEXMIF NHS NSDHL OFD1 PDHA1 PDK3 PHEX PORCN RNF113A RPS6KA3 SLC35A2 SMC1A SMPX SRY SYN1 TCEAL1 TLR7 UBQLN2 USP9X WDR45 ZC4H2 HP_X_LINKED_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_INHERITANCE ABCB7 ABCD1 ACSL4 ADGRG2 AFF2 AIFM1 AIPL1 ALAS2 ALG13 AMELX AMER1 AMMECR1 ANOS1 AP1S2 AR ARHGEF9 ARL6 ARR3 ARSL ARX ATP11C ATP2B3 ATP6AP1 ATP6AP2 ATP7A ATRX AVPR2 BCAP31 BCOR BCORL1 BGN BMP15 BRWD3 BTK CACNA1F CASK CCDC22 CCNQ CD40LG CDKL5 CFAP418 CFAP47 CFP CHM CHRDL1 CLCN4 CLCN5 CLDN2 CLIC2 CLRN1 CNGA1 CNKSR2 COL4A5 COL4A6 COX7B CRB1 CRX CSF2RA CT55 CUL4B CYBB DCX DDX3X DIAPH2 DKC1 DLG3 DMD DNAAF6 EBP EDA EFNB1 EIF2S3 ELF4 EMD F8 F9 FAM50A FANCB FGD1 FGF13 FGF16 FHL1 FLNA FMR1 FOXP3 FRMD7 FRMPD4 FTSJ1 G6PD GABRA3 GATA1 GCNA GDI1 GJB1 GJB2 GJB6 GK GLA GLRA2 GPC3 GPC4 GPR101 GPR143 GPRASP2 GRIA3 HCCS HCFC1 HDAC6 HDAC8 HMGB3 HNRNPH2 HPRT1 HS6ST2 HSD17B10 HUWE1 IDS IGBP1 IGSF1 IKBKG IL1RAPL1 IL2RG IQSEC2 IRS4 KDM5C KDM6A KIF4A KLHL15 L1CAM LAGE3 LAMP2 LAS1L LRAT MAGED2 MAGT1 MAMLD1 MAOA MBTPS2 MECP2 MED12 MID1 MID2 MSL3 MSN MTM1 NAA10 NDP NDUFA1 NDUFB11 NEXMIF NHS NKAP NLGN3 NLGN4X NONO NR0B1 NSDHL NYX OCRL OFD1 OGT OPHN1 OPN1LW OPN1MW OTC OTUD5 PAK3 PCDH19 PDE6G PDHA1 PDK3 PGK1 PHEX PHF6 PHF8 PHKA1 PHKA2 PIGA PLP1 POF1B POLA1 PORCN POU3F4 PQBP1 PRICKLE3 PRPS1 PTCHD1 RAB39B RBM10 RBMX RBP3 RLIM RNF113A ROM1 RP2 RPGR RPL10 RPS6KA3 RS1 SASH3 SH2D1A SH3KBP1 SHOX SLC16A2 SLC35A2 SLC6A8 SLC9A6 SLC9A7 SLITRK2 SMC1A SMPX SMS SOX3 SRY SSR4 SSX1 STAG2 STEEP1 STS SYN1 SYP TAF1 TAFAZZIN TBC1D8B TBL1X TBX22 TCEAL1 TEX11 TFE3 THOC2 TIMM8A TLR7 TLR8 TMLHE TRAPPC2 TSPAN7 TSR2 UBA1 UBE2A UBQLN2 UPF3B USP26 USP27X USP9X VMA21 WAS WDR45 XIAP XK ZC4H2 ZDHHC9 ZIC3 ZNF711 HP_X_LINKED_RECESSIVE_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_RECESSIVE_INHERITANCE ABCB7 ABCD1 AFF2 AIFM1 AIPL1 ALAS2 AMMECR1 ANOS1 AP1S2 AR ARHGEF9 ARL6 ARSL ARX ATP11C ATP2B3 ATP6AP1 ATP6AP2 ATP7A ATRX AVPR2 BCAP31 BCORL1 BGN BRWD3 BTK CACNA1F CCDC22 CD40LG CFAP418 CFAP47 CFP CHRDL1 CLCN5 CLDN2 CLIC2 CLRN1 CNGA1 COL4A6 CRX CUL4B CYBB DDX3X DKC1 DLG3 DMD DNAAF6 EBP EDA EIF2S3 ELF4 EMD F8 F9 FAM50A FANCB FGD1 FGF13 FGF16 FHL1 FLNA FOXP3 FRMPD4 FTSJ1 GATA1 GJB2 GJB6 GK GLA GPC3 GPC4 GPR143 GPRASP2 GRIA3 HCFC1 HPRT1 HS6ST2 IDS IGBP1 IGSF1 IKBKG IL1RAPL1 IL2RG IQSEC2 IRS4 KDM5C KIF4A KLHL15 L1CAM LAGE3 LAS1L LRAT MAGED2 MAGT1 MAMLD1 MAOA MBTPS2 MECP2 MED12 MID1 MID2 MSN MTM1 NAA10 NDP NDUFA1 NKAP NONO NR0B1 NSDHL NYX OCRL OFD1 OGT OPHN1 OPN1LW OPN1MW OTC OTUD5 PAK3 PDE6G PGK1 PHF6 PHF8 PHKA1 PHKA2 PIGA PLP1 POF1B POLA1 POU3F4 PQBP1 PRPS1 PTCHD1 RAB39B RBM10 RBMX RBP3 RLIM ROM1 RPGR RPL10 RS1 SASH3 SH2D1A SH3KBP1 SLC16A2 SLC6A8 SLC9A6 SLC9A7 SMC1A SMPX SMS SSR4 STAG2 STS SYN1 SYP TAF1 TAFAZZIN TEX11 THOC2 TIMM8A TLR7 TMLHE TRAPPC2 TSPAN7 TSR2 UBA1 UBE2A UPF3B USP27X USP9X VMA21 WAS XIAP ZC4H2 ZIC3 HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH CNNM4 DLX3 DSPP ENAM FAM20A ITGB6 KLK4 KRT14 MMP20 RELT ROGDI SATB1 SLC13A5 SLC24A4 HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA ABCA4 ALDH3A2 APOE BEST1 CFH CFHR1 CFHR3 CFI CNGB3 EFEMP1 ELOVL4 HGSNAT HMCN1 IMPG1 IMPG2 PROM1 PRPH2 TIMP3 UNC119 HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA ABCA4 ABCC6 AGXT ALDH3A2 ALMS1 APOE BEST1 C1QTNF5 CC2D2A CFH CFHR1 CFHR3 CFI CNGB3 CTC1 CTNNA1 EFEMP1 ELOVL4 ESPN FAM111A FBLN5 FZD4 GUCA1A GUCY2D HGSNAT HMCN1 IFT172 IMPG1 IMPG2 KCNJ13 LCA5 LRAT LRP5 MFRP NDP NEU1 NMNAT1 PLA2G5 POT1 PROM1 PRPF8 PRPH2 RB1 RDH5 RHO RLBP1 RPE65 SPATA7 TIMP3 TINF2 TMEM98 TREX1 TSPAN12 TUB UNC119 XYLT1 XYLT2 ZFYVE26 ZNF408 HP_YOUNG_ADULT_ONSET https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YOUNG_ADULT_ONSET AAAS AARS1 AARS2 ABCA4 ABHD12 ACTA1 ACTC1 ACTG1 ACTN2 ADGRG2 AFG3L2 AIP AK7 AKAP3 ALDH18A1 ALDH5A1 ALG10B AMACR ANLN ANO10 ANO3 ANO5 ANXA11 ANXA5 AOPEP APC APOA1 APPL1 ARHGEF18 ARL2BP ASTL ATL1 ATL3 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP6AP2 ATP6V0A1 ATP7B ATXN10 ATXN2 ATXN3 AURKC B2M B4GALNT1 BAG3 BAG5 BAP1 BBS2 BLK BMPR2 BPY2 BRCA2 BRDT BVES C14orf39 C19orf12 C2CD6 CACNA1A CACNB4 CAPN3 CARD9 CASK CASQ2 CASR CATIP CATSPER1 CATSPER2 CAV1 CAV3 CBFB CC2D2A CCDC34 CCDC39 CCDC62 CCND1 CD164 CDC20 CDH2 CDY1 CDY2A CEBPE CEL CEP78 CFAP251 CFAP43 CFAP44 CFH CFI CHCHD10 CHRNA1 CHRNA2 CIB1 CLCN1 CLCN2 CLN6 CNNM2 COCH COL2A1 COL4A1 COL6A3 COQ8B CPOX CPT2 CRYBA2 CSF1R CT55 CTNNA1 CTNS CTSF CYLD CYP27A1 CYP7B1 DAB1 DAZ1 DAZ2 DAZ3 DDX3Y DES DGKE DGUOK DHTKD1 DIABLO DIAPH2 DIAPH3 DNA2 DNAH1 DNAH17 DNAJB2 DNAJB4 DNAJB6 DNAJC3 DNAJC30 DNAJC5 DNALI1 DNHD1 DNM1L DNMT1 DPY19L2 DRAM2 DRC1 DSC2 DSG2 DSP DTNA DYRK1B DYSF EIF2AK2 EIF2AK4 EIF2B3 ELMOD3 ELOVL4 ELOVL5 ENG EPAS1 EPCAM EPHA10 ERCC6 ERCC6L2 ESR2 F2 F5 FANCM FARS2 FBLN5 FBN1 FBXO43 FDPS FHL1 FIG4 FKBP6 FKTN FLNC FN1 FOXC1 FSHB FSIP2 G6PD GAA GABRA3 GALC GANAB GARS1 GATA2 GBF1 GCK GCNA GDAP2 GDF9 GFAP GGCX GGN GIPC1 GJC2 GNB4 GPIHBP1 GRN GYG1 H6PD HAMP HAVCR2 HCN4 HFM1 HGSNAT HINT1 HJV HK1 HKDC1 HNRNPA1 HPRT1 HSFY1 HSPB1 HSPB3 HSPB8 HTRA1 ICOS IDS IFIH1 IFT140 IFT74 IKZF1 IL36RN IMPG2 INF2 INS INSR IQCN ITM2B ITPR3 JAG2 JAK2 JPH2 KCNA5 KCNC3 KCND3 KCNE1 KCNH2 KCNJ11 KCNJ18 KCNJ2 KCNJ5 KCNK3 KCNQ1 KCNU1 KCTD17 KDM5D KIF5A KLHL24 KLHL3 KLHL7 KNG1 KPNA7 LAMA4 LBR LGI1 LHB LIG3 LIPE LMF1 LMNA LMX1B LOX LRP12 LYST MAFA MAFB MAGT1 MAK MAP1B MAPKAPK3 MAPKBP1 MAPT MARCHF6 MARS2 MATR3 MBD4 MCM6 MEFV MEI1 MEIOB MFRP MFSD8 MGME1 MICAL1 MME MOG MORC2 MOS MOV10L1 MSH3 MSH4 MSH5 MYBPC3 MYH6 MYH7 MYL4 MYPN NAF1 NAGA NAGLU NEFL NEXN NF1 NF2 NLRP2 NLRP3 NLRP5 NLRP7 NOL3 NOTCH2NLC NOTCH3 NPC1 NPHP1 NPPA NPTX1 NR0B1 NR2E3 NR3C1 NRCAM NRL NT5C2 OBSCN OPTN OXGR1 P2RX2 PATL2 PDE11A PDGFB PDGFRB PDHA2 PIK3R5 PKD2 PKHD1 PKP2 PLA2G6 PLCZ1 PLG PLIN1 PLN PMP2 PMP22 PMVK PNLDC1 POF1B POGLUT1 POLG POLG2 POLRMT PPARG PPOX PPP2R3C PRDM16 PRDX3 PRKAG2 PRKAR1A PRKN PRKRA PRLR PRNP PRPF4 PRPF6 PRPF8 PRPH2 PRRT2 PRY PRY2 PSAP PSEN1 PSEN2 PTEN PTF1A PUM1 QRICH2 RAB39B RAF1 RAX2 RBM12 RBM20 RBMY1A1 REEP1 REEP6 RELN RIGI RILPL1 RIPOR2 RNASEH1 RNF216 RP1 RP2 RPGR RPL10L RPS19 RPS4Y2 RRAGD RRM2B RYR2 SAMD9L SCARB2 SCN1A SCN3B SCN4A SCN5A SCNN1G SDHD SEC23B SEC61A1 SELENBP1 SEMA3A SEPTIN12 SERPINA1 SERPING1 SERPINH1 SETX SFTPA1 SGCD SGO1 SH3BP2 SHANK3 SHOC1 SLC12A5 SLC17A9 SLC19A2 SLC19A3 SLC22A12 SLC25A4 SLC26A1 SLC26A8 SLC2A10 SLC34A2 SLC37A4 SLC39A14 SLC44A4 SLC4A1 SLC4A11 SLC4A3 SLC4A4 SLC7A6OS SLCO2A1 SMN1 SMN2 SMPD1 SMPX SNCA SNORD118 SNTA1 SOCS1 SOHLH1 SOST SPAG17 SPG11 SPINK2 SPRY2 SPTLC1 SPTLC2 SSBP1 SSX1 STAG3 STAT1 STOX1 STRC STT3A SUFU SUN5 SYCE1 SYCP2 SYCP3 SYNJ1 TAF4B TBC1D24 TBP TBX18 TBX3 TDRD9 TECRL TERB1 TERB2 TERT TEX11 TEX14 TEX15 TGFBI THAP1 THSD4 TIA1 TIE1 TIMP3 TINF2 TLCD3B TLR7 TLR8 TMEM126B TMEM43 TNC TNFAIP3 TNNC1 TNNI3 TNNT1 TNNT2 TOR1AIP1 TP53 TP63 TPM1 TPP1 TRDN TRIM32 TRMT5 TRPC6 TRPM3 TRPV4 TSGA10 TTBK2 TTC21A TTLL5 TTN TUBB4A TULP3 TWNK TYROBP UBQLN2 UNC13D USP26 USP48 USP9Y VAMP1 VAPB VCL VCP VCY VEZF1 VHL VPS11 VPS13D VPS16 VSX1 WASHC5 WDR19 WEE2 WNT4 XKRY XRCC1 XRCC2 YARS1 YEATS2 ZFP36L2 ZMYND15 ZNF408 ZP1 ZP3 ZPBP ZSWIM7 HP_Y_LINKED_INHERITANCE https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_LINKED_INHERITANCE BPY2 CDY1 CDY2A DAZ1 DAZ2 DAZ3 DDX3Y HSFY1 KDM5D PRY PRY2 RBMY1A1 RPS4Y2 SRY TBL1Y USP9Y VCY XKRY HP_Y_SHAPED_METACARPALS https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_SHAPED_METACARPALS CPLANE1 FAM149B1 GLI3 HOXD13 IFT27 INTU KIAA0753 KIF7 NEK1 OFD1 PDE6D TCTN3 TMEM216 TOPORS HP_ZOLLINGER_ELLISON_SYNDROME https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZOLLINGER_ELLISON_SYNDROME ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX GCGR MEN1 PIEZO2 YY1 HP_ZONULAR_CATARACT https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZONULAR_CATARACT ACADS BAP1 BEST1 BFSP1 CFAP410 CHMP4B CLPB COL18A1 CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGS CYSLTR2 FTL FYCO1 GALK1 GJA1 GJA3 GJA5 GJA8 GNA11 GNAQ GNPAT HSF4 IMPG2 KIAA1549 LIM2 MAF MIP MVK NF2 NHS NR2E3 OCRL OPA3 PAK2 PANK4 PRG4 RECQL4 RTN4IP1 SEC23A SF3B1 SLC2A1 VIM WFS1 ZNF408